Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
VIT	5212	broad.mit.edu	37	2	37035650	37035650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37035650C>T	ENST00000379242.3	+	15	1727	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	VIT_ENST00000379241.3_Silent_p.H438H|VIT_ENST00000497382.1_Silent_p.H129H|VIT_ENST00000389975.3_Silent_p.H460H|VIT_ENST00000404084.1_Silent_p.H412H|VIT_ENST00000401530.1_Silent_p.H439H	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	460	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACTCGCTCCACGTGCAGAGCT	0.607000													8	23					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120818592	120818592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120818592C>T	ENST00000378164.2	-	4	647	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	117					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAGGGTCCACAGCACTAACT	0.398000													10	152					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689222	74689222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689222C>T	ENST00000233616.4	-	4	1856	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	MOGS_ENST00000452063.2_Missense_Mutation_p.R459Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	565					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCAGGGTCCCGTCCCCGCCA	0.627000													49	67					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66855883	66855883	+	Missense_Mutation	SNP	C	C	T	rs142935775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66855883C>T	ENST00000341509.5	-	4	582	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	LCTL_ENST00000537670.1_De_novo_Start_InFrame	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	151					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCAAGGTCACGATGGGAGTG	0.527000													12	22					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201821264	201821264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201821264C>T	ENST00000361565.4	+	5	616	c.547C>T	c.(547-549)Cca>Tca	p.P183S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	183					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACACAGATGCCACTTGTTGC	0.363000													10	48					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158366903	158366903	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158366903G>T	ENST00000486715.1	+	5	1003	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	GFM1_ENST00000478576.1_Missense_Mutation_p.D216Y|GFM1_ENST00000264263.5_Missense_Mutation_p.D216Y	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	216					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGTATTGTAGATCTTATTGA	0.294000													41	68					9.84934e-19	1.28642e-18	1	1	0
MTCH1	23787	broad.mit.edu	37	6	36945015	36945015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945015G>A	ENST00000373627.5	-	6	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	MTCH1_ENST00000373616.5_Missense_Mutation_p.R221C|MTCH1_ENST00000538808.1_Missense_Mutation_p.R65C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	221					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACCATGCAGCGCATTGAGATG	0.562000											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	75					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079512	10079512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10079512C>T	ENST00000382452.2	-	13	1716	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.T478T|WDR1_ENST00000502702.1_Silent_p.T338T|WDR1_ENST00000382451.2_Silent_p.T338T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	478					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCCTTCAGCGTGGTGCCCA	0.642000													3	6					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900587	35900587	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900587A>G	ENST00000339208.6	-	16	3401	c.3261T>C	c.(3259-3261)tcT>tcC	p.S1087S	SYNRG_ENST00000345615.4_Silent_p.S1009S|SYNRG_ENST00000585472.1_Silent_p.S1008S|SYNRG_ENST00000502449.2_Silent_p.S964S|SYNRG_ENST00000394378.2_Silent_p.S1009S|SYNRG_ENST00000591288.1_Silent_p.S881S|SYNRG_ENST00000346661.4_Silent_p.S1087S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1087					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAAAGCTGGAGAAGGAGAAG	0.498000													46	65					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32760977	32760977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32760977G>T	ENST00000427716.2	+	8	1504	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	FGD4_ENST00000534526.2_Missense_Mutation_p.K497N|FGD4_ENST00000546442.1_Missense_Mutation_p.K267N|FGD4_ENST00000381025.3_Missense_Mutation_p.K112N|FGD4_ENST00000266482.3_Missense_Mutation_p.K112N|FGD4_ENST00000531134.1_Missense_Mutation_p.K445N|FGD4_ENST00000525053.1_Missense_Mutation_p.K472N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	360	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGCTCCTTAAGGACTATCTAA	0.403000													8	162					1.06961e-07	1.26574e-07	1	1	0
GUF1	60558	broad.mit.edu	37	4	44682469	44682469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:44682469C>T	ENST00000281543.5	+	2	371	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	59					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAAACTTGACATGTCTAGGT	0.338000													4	13					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103354859	103354859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103354859C>T	ENST00000520539.1	-	9	1546	c.940G>A	c.(940-942)Gtt>Att	p.V314I	UBR5_ENST00000220959.4_Missense_Mutation_p.V314I|UBR5_ENST00000521922.1_Missense_Mutation_p.V308I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	314					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAACGTAAAACGGATTCACGT	0.458000													29	64					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370053	35370053	+	Missense_Mutation	SNP	C	C	T	rs141061512	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35370053C>T	ENST00000373347.1	-	3	1200	c.932G>A	c.(931-933)cGc>cAc	p.R311H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R311H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	311					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCAAGGCAGCGGCCTTCCGA	0.647000													28	37					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136665137	136665137	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136665137G>A	ENST00000469404.1	+	2	838	c.747_splice	c.e2+1	p.S249_splice	IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000288986.2_Splice_Site_p.S313_splice|NCK1_ENST00000481752.1_Splice_Site_p.S313_splice	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	313	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGTAAGTTGAT	0.388000													29	75					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052140	34052140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052140A>G	ENST00000373381.4	-	46	7191	c.7015T>C	c.(7015-7017)Tac>Cac	p.Y2339H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2341	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTGCAGGTAGGTTCCAAGT	0.478000													24	33					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22143097	22143097	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22143097C>T	ENST00000215832.6	-	5	798	c.609_splice	c.e5-1	p.G204_splice	MAPK1_ENST00000398822.3_Splice_Site_p.G204_splice|MAPK1_ENST00000544786.1_Splice_Site_p.G204_splice	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	204	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TTGGTGTAGCCCTGCAGGAGA	0.453000													18	16					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	122990173	122990173	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122990173A>C	ENST00000331738.7	-	10	1351	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.N354K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	402										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCATCTAAATTTCGAAATA	0.393000													36	67					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34285617	34285617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34285617G>A	ENST00000374092.4	-	3	383	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C|NFS1_ENST00000540053.1_De_novo_Start_InFrame|NFS1_ENST00000306750.3_Missense_Mutation_p.R105C|NFS1_ENST00000397425.1_Missense_Mutation_p.R45C	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	105					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACGAGCACGTTCCATGGCT	0.542000													18	28					0	0	1	0	0
TRBV19	0	broad.mit.edu	37	7	142326544	142326544	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142326544G>A	ENST00000390393.3	+	0	182																											CAAGTGCTTGGAGCTCCAAGA	0.532000													20	50					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498535	59498535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498535C>A	ENST00000038176.3	-	29	2683	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	NSMAF_ENST00000427130.2_Missense_Mutation_p.G855V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	824					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				gccatctgttcctgtgctgag	0.443000													7	83					0.0293803	0.0301098	1	1	0
TNPO3	23534	broad.mit.edu	37	7	128641247	128641247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641247C>T	ENST00000393245.1	-	6	1111	c.738G>A	c.(736-738)tcG>tcA	p.S246S	TNPO3_ENST00000471234.1_Silent_p.S246S|TNPO3_ENST00000471166.1_Silent_p.S246S|TNPO3_ENST00000265388.5_Silent_p.S246S|TNPO3_ENST00000482320.1_Silent_p.S180S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	246					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATACACAGTCCGAAGCAGCTT	0.473000													62	170					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112184890	112184890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112184890A>G	ENST00000455480.2	+	16	2564	c.2387A>G	c.(2386-2388)gAg>gGg	p.E796G	ACAD10_ENST00000313698.4_Missense_Mutation_p.E765G|ACAD10_ENST00000392636.2_Missense_Mutation_p.E367G|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	765							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCAACATGGAGCTGCTGGTG	0.547000													3	50					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8137903	8137903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8137903G>A	ENST00000315684.8	-	10	1695	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	563					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGAGGCCCAGGCCTTACGCTG	0.617000													3	9					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247163244C>T	ENST00000339986.7	-	2	283	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ZNF695_ENST00000487338.2_Missense_Mutation_p.D46N|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418000													15	34					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1722020	1722020	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1722020G>A	ENST00000378609.4	-	9	844	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	171					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCCGGTCTCGATGTCCCACA	0.542000													3	16					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42772013	42772013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42772013G>T	ENST00000310232.6	-	13	1747	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	555										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCTCGGCAGCCTGCCAGAG	0.607000													4	39					0.00024832	0.0002712	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32844694	32844694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844694C>T	ENST00000311921.3	+	2	1150	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.P320S|ZNF507_ENST00000544431.1_Missense_Mutation_p.P320S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCACAATGGGCCATCAGTGCA	0.498000													70	123					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58701094	58701094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58701094G>A	ENST00000305921.3	+	2	917	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	229	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAACGAATCGAAGGACTTGG	0.433000													11	21					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258282	48258282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48258282G>A	ENST00000394747.1	-	4	803	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ABCC11_ENST00000353782.5_Missense_Mutation_p.L152F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L152F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L152F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L152F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	152						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATCACCAGAAGCACTGAAGCT	0.488000													16	51					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67286472	67286472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67286472C>A	ENST00000299798.11	+	2	280	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	72					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAAGTAACATCTCTGGTCCCT	0.517000													20	143					1.9806e-07	2.3338e-07	1	1	0
INO80C	125476	broad.mit.edu	37	18	33060526	33060526	+	Splice_Site	SNP	C	C	T	rs150273392	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33060526C>T	ENST00000592173.1	-	2	216	c.156_splice	c.e2-1	p.G53_splice	INO80C_ENST00000590757.1_Intron|INO80C_ENST00000586489.1_5'UTR|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Splice_Site_p.G89_splice|INO80C_ENST00000334598.7_Splice_Site_p.G53_splice			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	53					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CATGCTGATACCCTTAAAACA	0.448000													27	45					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49004629	49004629	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49004629T>C	ENST00000356401.4	+	6	798	c.459T>C	c.(457-459)tcT>tcC	p.S153S	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.S153S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	153					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACCTACTCTCTCTGGCCTGTC	0.557000													13	115					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52602699	52602699	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52602699A>G	ENST00000521508.1	+	4	1457	c.1452A>G	c.(1450-1452)ctA>ctG	p.L484L	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGACATTCCTATCATCTGTGG	0.308000													4	45					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111352092	111352092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111352092G>A	ENST00000228841.8	-	4	219	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MYL2_ENST00000548438.1_Nonsense_Mutation_p.R44*	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	58	EF-hand 1.		R -> Q (in CMH10; dbSNP:rs28933099).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACGTTCACTCGCCCTAGGGTA	0.453000													8	28					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72241855	72241855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:72241855C>A	ENST00000357731.4	-	3	774	c.535_splice	c.e3+1	p.A179_splice	NEGR1_ENST00000306821.3_Splice_Site_p.A51_splice|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Splice_Site_p.V177_splice	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	179	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTACTTTACCTGATGGGGAG	0.408000													10	16					3.86212e-05	4.30401e-05	1	1	0
ROR1	4919	broad.mit.edu	37	1	64605866	64605866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64605866C>T	ENST00000371079.1	+	6	1060	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.H229Y|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	229	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCCCTGTGCCACTATGCCTT	0.463000													14	29					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698337	150698337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150698337G>A	ENST00000297494.3	+	11	1609	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	NOS3_ENST00000461406.1_Missense_Mutation_p.V212M|NOS3_ENST00000484524.1_Missense_Mutation_p.V418M|NOS3_ENST00000467517.1_Missense_Mutation_p.V418M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	418	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGTCACCATCGTGGACCACCA	0.637000													70	57					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5210574	5210574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5210574C>T	ENST00000372412.4	-	35	5629	c.5396G>A	c.(5395-5397)cGc>cAc	p.R1799H	PTPRS_ENST00000348075.2_Missense_Mutation_p.R1760H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1798H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1351H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1351H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1760H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1798H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1778H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1798	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGCAGAGCGCTCGGCCGG	0.597000													8	39					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078631	78078631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78078631C>T	ENST00000302262.3	+	2	465	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GAA_ENST00000390015.3_Silent_p.C82C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	82	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACACAGTGCGACGTCCCCC	0.677000													6	9					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1006602	1006602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1006602G>A	ENST00000448903.2	+	17	2422	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.D762N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	761					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATCTGTTCAGACGACCTTCA	0.423000													47	42					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702503	23702503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702503G>A	ENST00000256797.4	-	21	2827	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	ERN2_ENST00000457008.2_Missense_Mutation_p.R787W	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	839	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTATAGGACCGGAACTTTCTC	0.627000													8	90					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31217455	31217455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31217455C>A	ENST00000362065.4	+	9	2589	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	766					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCACCTCTTCCAGCAGCTCC	0.547000								Direct reversal of damage					18	20					1.96292e-10	2.41709e-10	1	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98386590	98386590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98386590G>A	ENST00000339364.5	-	10	1663	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T114M|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T337M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCATCCACCGTGTGATAAAC	0.547000													6	68					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781290	128781290	+	Missense_Mutation	SNP	G	G	A	rs139073333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781290G>A	ENST00000529694.1	+	2	498	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41H|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R41H	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	41					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R41H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACCGTACGCGCCTGCTGGCC	0.597000													28	48					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72416129	72416129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72416129C>T	ENST00000395270.1	+	15	3780	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	POM121_ENST00000446813.1_Silent_p.T913T|POM121_ENST00000434423.2_Silent_p.T1178T|POM121_ENST00000358357.3_Silent_p.T913T|POM121_ENST00000257622.4_Silent_p.T913T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1178	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCCAGGCACCGCCACCCCCA	0.652000													18	19					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387813	1387813	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1387813C>T	ENST00000378785.2	+	3	1216	c.222_splice	c.e3+1	p.T74_splice		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGACAGCCACGGTAAACATA	0.602000													26	41					0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33361070	33361070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33361070C>T	ENST00000431156.2	-	6	1754	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	TTI2_ENST00000360742.5_Missense_Mutation_p.R379Q|TTI2_ENST00000520636.1_Missense_Mutation_p.R348Q|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	379							binding										CTTTAAGTGCCGGACAGTTAG	0.468000													34	71					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931795	46931795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46931795G>A	ENST00000262738.3	-	1	1272	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L425F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	425	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCAGGAGCTGGTACTCG	0.682000													6	13					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28899640	28899640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28899640C>T	ENST00000375664.3	+	9	1652	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	WAC_ENST00000347934.4_Missense_Mutation_p.A290V|WAC_ENST00000375646.1_Splice_Site_p.A241_splice|WAC_ENST00000354911.4_Missense_Mutation_p.A393V|WAC_ENST00000428935.1_Missense_Mutation_p.A348V			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	393					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTACAGCAGCTGTGACACAA	0.383000													46	84					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17084512	17084512	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17084512C>T	ENST00000455405.2	-	0	377																											CCGCTGTAGGCCTGGCTCTCC	0.577000													5	67					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548743	47548743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548743G>A	ENST00000273859.3	+	10	1768	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	ATP10D_ENST00000504445.1_Missense_Mutation_p.S485N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	500					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAGCCCCCAGCTGCAGGACA	0.483000													39	53					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190901	6190901	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190901G>T	ENST00000530810.1	-	1	737	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGTAAGACACAGCGAT	0.517000													18	21					6.94344e-10	8.49476e-10	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58831083	58831083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831083A>G	ENST00000355431.3	+	20	2649	c.2276A>G	c.(2275-2277)aAg>aGg	p.K759R	ARID4A_ENST00000431317.2_Missense_Mutation_p.K759R|ARID4A_ENST00000348476.3_Missense_Mutation_p.K759R|ARID4A_ENST00000395168.3_Missense_Mutation_p.K759R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	759					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACCCTGAAGTTAGAAGTT	0.318000													6	65					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67299299G>T	ENST00000371026.3	-	13	2037	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	WDR78_ENST00000431318.1_Missense_Mutation_p.A407D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343000													14	30					1.49906e-05	1.69169e-05	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45131588	45131588	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45131588T>G	ENST00000457685.2	-	6	1599	c.276A>C	c.(274-276)agA>agC	p.R92S	ZNF334_ENST00000593880.1_Missense_Mutation_p.R153S|ZNF334_ENST00000347606.4_Missense_Mutation_p.R130S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGGCATTTTTCTTGAGGGAA	0.343000													24	45					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870847	61870847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61870847G>A	ENST00000217169.3	+	6	1001	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	BIRC7_ENST00000342412.6_Missense_Mutation_p.V245I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V158I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	263					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CGTGTCCATCGTCTTTGTGCC	0.697000													15	32					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912597	101912597	+	Silent	SNP	G	G	A	rs142372042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912597G>A	ENST00000537097.1	+	6	4569	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	GPRASP1_ENST00000415986.1_Silent_p.P1252P|GPRASP1_ENST00000361600.5_Silent_p.P1252P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.P1252P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1252	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGATTCCCCGGAACAGCTGT	0.413000													15	138					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584320	28584320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28584320C>T	ENST00000434452.1	-	13	2055	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	DSC3_ENST00000360428.4_Missense_Mutation_p.R634H	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	634	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATATGAAAGACGGGCAGCTGT	0.343000													27	35					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18347660	18347660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18347660G>A	ENST00000429452.1	-	23	3334	c.2982C>T	c.(2980-2982)agC>agT	p.S994S	MICAL3_ENST00000585038.1_Silent_p.S994S|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000444520.1_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	870	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGAAGTGAGGCTACCTGGGG	0.602000													23	55					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123744139	123744139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123744139C>T	ENST00000223642.1	-	27	3498	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1157					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGGCATATATCGAAAGCCTTT	0.408000													14	20					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680430	114680430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680430G>A	ENST00000393296.1	-	3	835	c.758C>T	c.(757-759)gCt>gTt	p.A253V	SYT6_ENST00000369547.1_Missense_Mutation_p.A168V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	253	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTCAAAAGCCTTCAGGAT	0.547000													31	64					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630268	203630268	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203630268C>A	ENST00000303116.6	+	8	1561	c.819C>A	c.(817-819)atC>atA	p.I273I	FAM117B_ENST00000392238.2_Silent_p.I517I	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498000													8	91					0.000274275	0.000298791	1	1	0
ZAN	7455	broad.mit.edu	37	7	100344289	100344289	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100344289C>T	ENST00000542585.1	+	0	1043				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCCAGTCTCCTGGTGCAGC	0.552000													7	171					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215271	46215271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215271C>T	ENST00000317683.3	-	2	1616	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	495	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACTTGAGGGCGGCCAGCGCG	0.652000													3	9					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257829	41257829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41257829G>T	ENST00000307221.4	-	1	301	c.170C>A	c.(169-171)tCa>tAa	p.S57*	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	57	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCATTTGATAATACCTC	0.373000													83	135					3.2527e-25	4.3222e-25	1	1	0
ZBTB41	360023	broad.mit.edu	37	1	197157461	197157461	+	Missense_Mutation	SNP	G	G	A	rs146939360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197157461G>A	ENST00000367405.4	-	4	1575	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGAGCAAACCGTGATTTAAAA	0.348000													32	63					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30553102	30553102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30553102C>A	ENST00000326195.8	+	15	1569	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	ABCF1_ENST00000376545.3_Missense_Mutation_p.A448D|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	486	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACCTCAACGCTGTCATCTGG	0.557000													7	40					0.0293803	0.0301098	1	1	0
PCYT1B	9468	broad.mit.edu	37	X	24690692	24690692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24690692G>A	ENST00000379145.1	-	1	102	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413000													34	63					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14909123	14909123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14909123G>T	ENST00000378372.3	+	11	1274	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	345					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAAAGCTACAGCAACTGATTA	0.383000													11	120					0.00829132	0.00869385	1	1	0
PTGIS	5740	broad.mit.edu	37	20	48140673	48140673	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48140673G>A	ENST00000244043.4	-	6	806	c.777C>T	c.(775-777)taC>taT	p.Y259Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	259					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGCAGCAGGTAACTCTCCA	0.617000													22	45					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25583001	25583001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25583001G>A	ENST00000269141.3	-	7	1403	c.980C>T	c.(979-981)aCt>aTt	p.T327I	CDH2_ENST00000399380.3_Missense_Mutation_p.T296I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	327	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGTCACCAGTCTCATTGTT	0.438000													47	71					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997102	31997102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31997102C>T	ENST00000435363.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_ENST00000425700.2_Silent_p.A1221A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1221					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCAATGGCCCAGGAGACTG	0.647000													12	17					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16763613	16763613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16763613C>A	ENST00000513610.1	-	14	1925	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	491	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGGCATTCTCCATTGTCT	0.373000													6	65					0.27861	0.279982	1	1	0
LINC00518	0	broad.mit.edu	37	6	10430257	10430257	+	RNA	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10430257T>A	ENST00000496285.1	-	0	778					NR_027793.1																						TTACATAAGGTCCATGTGTCT	0.488000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	112					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6423400	6423400	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6423400T>C	ENST00000389906.2	-	8	1393	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Missense_Mutation_p.K173E|APBB1_ENST00000530885.1_Missense_Mutation_p.K212E|APBB1_ENST00000299402.6_Missense_Mutation_p.K432E|APBB1_ENST00000311051.3_Missense_Mutation_p.K432E	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	432	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTAGCTTTAGTGTCTCA	0.607000													12	16					0	0	1	0	0
KRT19P2	0	broad.mit.edu	37	12	95228373	95228373	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228373G>T	ENST00000405395.2	+	0	144					NR_036685.1																						ACAGATCAAAGGCCTGAAGGA	0.537000													8	13					5.18039e-06	5.91835e-06	1	1	0
FTH1	2495	broad.mit.edu	37	11	61732269	61732269	+	Missense_Mutation	SNP	G	G	A	rs11554842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61732269G>A	ENST00000273550.7	-	4	716	c.482C>T	c.(481-483)gCg>gTg	p.A161V	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.A131V|FTH1_ENST00000532601.1_Missense_Mutation_p.A91V	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGATTCGGGCGCTCCCATCTT	0.502000													7	47					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297591	207297591	+	Missense_Mutation	SNP	G	G	A	rs143323893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207297591G>A	ENST00000367070.3	+	6	780	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	196	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACGCATACGGCTTTTCTGT	0.478000													8	80					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416049	30416049	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416049A>C	ENST00000333027.3	+	17	2729	c.2401A>C	c.(2401-2403)Att>Ctt	p.I801L	MTMR3_ENST00000323630.5_Missense_Mutation_p.I665L|MTMR3_ENST00000406629.1_Missense_Mutation_p.I801L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.I801L|MTMR3_ENST00000401950.2_Missense_Mutation_p.I801L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	801					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AATAGAAGAGATTGCAGAGGG	0.537000													8	58					0	0	1	0	0
KIF25	0	broad.mit.edu	37	6	168445637	168445637	+	Silent	SNP	G	G	A	rs139018818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168445637G>A	ENST00000443060.2	+	10	1507	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	KIF25_ENST00000351261.3_Silent_p.P320P|KIF25_ENST00000354419.2_Silent_p.P372P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	372					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GAAAGAAGCCGCCCAGCTCCC	0.547000													26	40					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140287481	140287481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140287481C>T	ENST00000275884.6	-	3	1512	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	DENND2A_ENST00000492720.1_Silent_p.S365S|DENND2A_ENST00000537639.1_Silent_p.S365S|DENND2A_ENST00000496613.1_Silent_p.S365S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	365										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGTTCTCCTCCGATAAAGTGC	0.527000													25	114					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168054973	168054973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168054973G>A	ENST00000367838.1	-	8	1699	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	GPR161_ENST00000546300.1_Silent_p.Y348Y|GPR161_ENST00000367836.1_Silent_p.Y330Y|GPR161_ENST00000271357.5_Silent_p.Y462Y|GPR161_ENST00000537209.1_Silent_p.Y482Y|GPR161_ENST00000539777.1_Silent_p.Y384Y|GPR161_ENST00000367835.1_Silent_p.Y462Y|GPR161_ENST00000361697.2_Silent_p.Y462Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	462					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCTTGCTGCGTAACTGTCCA	0.512000													16	36					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65481966	65481966	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65481966G>T	ENST00000341318.4	+	7	925	c.690_splice	c.e7-1	p.D231_splice	KAT5_ENST00000377046.3_Splice_Site_p.D198_splice|KAT5_ENST00000352980.4_Splice_Site_p.D146_splice|KAT5_ENST00000530446.1_Splice_Site_p.D179_splice|KAT5_ENST00000534650.1_5'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	198					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CCCTGGGCAGGACTCCCAGGA	0.552000													15	17					2.32078e-09	2.82054e-09	1	1	0
C4orf50	389197	broad.mit.edu	37	4	5977631	5977631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5977631G>T	ENST00000531445.1	-	3	1688	c.1642C>A	c.(1642-1644)Ctg>Atg	p.L548M	C4orf50_ENST00000324058.5_Missense_Mutation_p.L74M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	74										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTACCTTCAGGGGAGTCACT	0.363000													6	57					0.0215528	0.0221649	1	1	0
PDE12	201626	broad.mit.edu	37	3	57542583	57542583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57542583C>T	ENST00000311180.8	+	1	580	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PDE12_ENST00000487257.1_Silent_p.R159R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	159							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGAGCGCAACCCGCCCG	0.622000													11	18					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587330	587330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:587330G>A	ENST00000264555.5	+	4	414	c.286G>A	c.(286-288)Gct>Act	p.A96T	PHRF1_ENST00000416188.2_Missense_Mutation_p.A96T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A92T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A95T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	96							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACTGGAAGCCGCTGGCTCTTT	0.557000													14	31					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66274235	66274235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66274235A>G	ENST00000327268.4	-	3	391	c.227T>C	c.(226-228)tTt>tCt	p.F76S	SLC16A6_ENST00000580666.1_Missense_Mutation_p.F76S|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	76						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTAACCTGAAAATGTTAAGAC	0.373000													16	16					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176061	223176061	+	Missense_Mutation	SNP	C	C	T	rs114523965	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223176061C>T	ENST00000284476.6	+	8	1486	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	441					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCAAAGACGGCTGACTAT	0.458000													25	45					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63866561	63866561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63866561G>A	ENST00000268049.7	+	12	1313	c.989G>A	c.(988-990)cGc>cAc	p.R330H	USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.R308H|USP3_ENST00000380324.3_Missense_Mutation_p.R352H|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.R103H|USP3_ENST00000559711.1_Missense_Mutation_p.R263H|USP3_ENST00000558285.1_Missense_Mutation_p.R335H|USP3_ENST00000536001.1_3'UTR			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	352					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGTAAGCGCTCTAAGAAT	0.308000													16	32					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108120657	108120657	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120657T>C	ENST00000374720.3	+	7	950	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y27H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	235						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GATAATCAGGTATATATCAAG	0.333000													41	59					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041884	47041884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47041884G>A	ENST00000450053.3	+	27	4474	c.4295G>A	c.(4294-4296)aGc>aAc	p.S1432N	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1248N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1432							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGAACACCAGCAACCCACAG	0.627000													4	37					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040979	117040979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117040979G>T	ENST00000355044.3	+	14	2341	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	739	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGACAGCAAGAATGCCAGGC	0.358000													30	44					8.4185e-14	1.07063e-13	1	1	0
DGKH	160851	broad.mit.edu	37	13	42763391	42763391	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42763391C>T	ENST00000379274.2	+	15	1879	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	DGKH_ENST00000536612.1_Missense_Mutation_p.R484W|DGKH_ENST00000337343.4_Missense_Mutation_p.R620W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R620W|DGKH_ENST00000538674.1_Missense_Mutation_p.R375W|DGKH_ENST00000261491.4_Missense_Mutation_p.R620W			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	620					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATCATGTTGCGGGCAAATAG	0.453000													9	50					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5013046	5013046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5013046C>A	ENST00000250076.3	-	3	795	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ZNF232_ENST00000416429.2_Missense_Mutation_p.E20D|ZNF232_ENST00000575898.1_Missense_Mutation_p.E47D|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	20					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCATCATCTTCTCTTGTCCCT	0.512000													28	45					1.68575e-08	2.02034e-08	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146059313	146059313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146059313C>T	ENST00000454497.2	-	21	2556	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	OTUD4_ENST00000447906.2_Missense_Mutation_p.E872K|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	871							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGGATTTTCTATGAATCCC	0.433000													21	27					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43656860	43656860	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43656860G>T	ENST00000264663.5	+	16	2620	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	NNT_ENST00000512996.2_Missense_Mutation_p.S669I|NNT_ENST00000344920.4_Missense_Mutation_p.S800I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	800					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTGGACCCAAGCTTTACTACT	0.493000													34	41					6.05902e-23	8.00884e-23	1	1	0
ELP4	26610	broad.mit.edu	37	11	31805058	31805058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:31805058C>T	ENST00000350638.5	+	10	1296	c.1261C>T	c.(1261-1263)Cac>Tac	p.H421Y	ELP4_ENST00000379163.5_Missense_Mutation_p.A468V|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	421					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGCAAGAAGCACCTGGACTT	0.473000													7	66					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174000	140174000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140174000C>T	ENST00000357503.2	+	2	1055	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	287					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GCAGCCGCAGCGCTCCCACCA	0.697000													3	4					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	3002788	3002788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002788C>T	ENST00000216877.6	+	14	1623	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PTPRA_ENST00000358719.4_Missense_Mutation_p.P273L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P408L|PTPRA_ENST00000380393.3_Missense_Mutation_p.P417L|PTPRA_ENST00000425918.2_Missense_Mutation_p.P428L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P417L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P408L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	417	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTTTTACCCCGATCGGCATG	0.562000													27	42					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775031	77775031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77775031G>A	ENST00000281030.2	+	1	125	c.104G>A	c.(103-105)aGc>aAc	p.S35N	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	35					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			ATGATCCCCAGCCTTCTGCGG	0.612000													51	57					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354669	31354669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31354669A>G	ENST00000460581.2	+	8	1013	c.467A>G	c.(466-468)aAa>aGa	p.K156R	COCH_ENST00000382493.4_Missense_Mutation_p.K119R|COCH_ENST00000396618.3_Missense_Mutation_p.K268R|COCH_ENST00000475087.1_Missense_Mutation_p.K268R|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.K268R			O43405	COCH_HUMAN	cochlin	268					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGATCCCCAAAGTGGTGGTG	0.418000													5	93					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86803975	86803975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86803975G>A	ENST00000394703.5	+	9	1072	c.509G>A	c.(508-510)cGc>cAc	p.R170H	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170H|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82H|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	170	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AATATTGAACGCTATCTTAAG	0.303000													39	42					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49412430	49412430	+	Missense_Mutation	SNP	C	C	T	rs139765234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49412430C>T	ENST00000274813.3	-	9	1725	c.1598G>A	c.(1597-1599)tGt>tAt	p.C533Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	533					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCAAGACAACGTTCAGC	0.438000													64	87					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27105658	27105658	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27105658G>T	ENST00000324856.7	+	20	5640	c.5269G>T	c.(5269-5271)Gct>Tct	p.A1757S	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1540S|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1374S|ARID1A_ENST00000540690.1_Missense_Mutation_p.A85S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1757					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTAGTCCAGCTCCCATGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								42	69					1.96642e-18	2.56383e-18	1	1	0
SMG6	23293	broad.mit.edu	37	17	2203472	2203472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2203472G>A	ENST00000544865.1	-	2	992	c.482C>T	c.(481-483)gCg>gTg	p.A161V	SMG6_ENST00000263073.5_Missense_Mutation_p.A192V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	192	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGTTTATTCGCAACTTCCTC	0.522000													105	232					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609371	19609371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19609371C>T	ENST00000361640.4	-	7	1390	c.850G>A	c.(850-852)Gcg>Acg	p.A284T		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	284					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGACCGCGTCCCCGTGG	0.642000													17	16					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482442	100482442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100482442G>A	ENST00000388793.4	+	8	1244	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRRT_ENST00000432932.1_Missense_Mutation_p.E342K|SRRT_ENST00000347433.4_Missense_Mutation_p.E342K|SRRT_ENST00000457580.2_Missense_Mutation_p.E342K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	342	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGACTCCGAGAAGGAAGC	0.517000													6	88					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68123763	68123763	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68123763C>G	ENST00000262215.3	-	34	5163	c.4774G>C	c.(4774-4776)Gcg>Ccg	p.A1592P	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1046P|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A430P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1592					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAGCAGACGCAGAAACCAGT	0.323000													4	38					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231482	7231482	+	Silent	SNP	G	G	A	rs146203523		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231482G>A	ENST00000379938.2	+	10	3687	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	RREB1_ENST00000349384.6_Silent_p.P1050P|RREB1_ENST00000379933.3_Silent_p.P1050P|RREB1_ENST00000334984.6_Silent_p.P1050P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1050	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGCCCCCGCTGCTTTTGC	0.637000													18	30					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072095	9072095	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9072095A>C	ENST00000397910.4	-	3	15554	c.15351T>G	c.(15349-15351)atT>atG	p.I5117M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAAGGAAAAATTTCCTTTG	0.453000													11	77					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274917	74274917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274917C>T	ENST00000409262.3	+	1	1468	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	490							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACCTGTCCGACAGATTGT	0.627000													7	8					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233780	28233780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28233780T>C	ENST00000305242.5	-	11	1590	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	ARMC4_ENST00000537576.1_Missense_Mutation_p.I192V|ARMC4_ENST00000545014.1_Missense_Mutation_p.I25V|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	500							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCAAATTTATCAGCACTTCC	0.478000													7	50					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541443	73541443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73541443C>T	ENST00000339362.5	+	11	2096	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	NEO1_ENST00000558964.1_Missense_Mutation_p.A550V|NEO1_ENST00000560262.1_Missense_Mutation_p.A550V|NEO1_ENST00000261908.6_Missense_Mutation_p.A550V|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	550	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCATATGCAGCTTCGCCTACC	0.428000													39	66					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7822111	7822111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7822111T>C	ENST00000379562.3	-	4	331	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Y95C			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	95					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTATTCGTTGTAGACAATGTT	0.408000													5	122					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089703	57089703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089703C>A	ENST00000330619.8	+	6	2592	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L636I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCGTAAATCCCTTACTCTGCA	0.428000													4	51					0.150653	0.152692	1	1	0
COPS4	51138	broad.mit.edu	37	4	83984281	83984281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984281G>A	ENST00000509093.1	+	7	1546	c.768G>A	c.(766-768)caG>caA	p.Q256Q	COPS4_ENST00000503682.1_Silent_p.Q256Q|COPS4_ENST00000511653.1_Silent_p.Q256Q|COPS4_ENST00000264389.2_Silent_p.Q256Q	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	256	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AAAGGTGCCAGCAACTTGCTG	0.403000													32	54					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90313593	90313593	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90313593C>T	ENST00000469640.2	+	23	3009	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	DAPK1_ENST00000358077.5_Silent_p.N878N|DAPK1_ENST00000491893.1_Silent_p.N812N|DAPK1_ENST00000408954.3_Silent_p.N878N|DAPK1_ENST00000472284.1_Silent_p.N878N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	878					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGAAGAACCCACTCCAAG	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				12	45					0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189789	62189789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62189789C>A	ENST00000534397.1	+	3	238	c.47C>A	c.(46-48)cCt>cAt	p.P16H	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000278282.2_Missense_Mutation_p.P51H			P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	51					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						CTTTTCAGCCCTGATCAAGAC	0.547000													11	66					2.80697e-09	3.39963e-09	1	1	0
STPG2	285555	broad.mit.edu	37	4	98865063	98865063	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:98865063C>A	ENST00000295268.3	-	8	1118	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CTGGTACTTTCATAGTTCTTT	0.348000													27	68					7.01153e-11	8.6781e-11	1	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907884	12907884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12907884C>T	ENST00000317869.6	-	2	484	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACTTTTGGCTCTGCAGCCAGG	0.478000													17	150					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201670	66201670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:66201670C>T	ENST00000273854.3	-	16	3432	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	EPHA5_ENST00000354839.4_Silent_p.T922T|EPHA5_ENST00000511294.1_Silent_p.T945T|EPHA5_ENST00000432638.2_Silent_p.T781T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	944					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTAACCAGCGTCTTCAGAC	0.413000										TSP Lung(17;0.13)			20	49					0	0	1	0	0
TSC1	0	broad.mit.edu	37	9	135776205	135776205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135776205A>G	ENST00000298552.3	-	20	2743	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	TSC1_ENST00000440111.2_Missense_Mutation_p.V841A|TSC1_ENST00000545250.1_Missense_Mutation_p.V790A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	841					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTGGACCGACTCACT	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				31	41					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50071118	50071118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50071118C>T	ENST00000371564.3	-	6	2035	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	NFATC2_ENST00000414705.1_Missense_Mutation_p.E586K|NFATC2_ENST00000396009.3_Missense_Mutation_p.E606K	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	606					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACTTTGGACTCGGATGTAAAG	0.478000													56	77					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437648	125437648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437648G>T	ENST00000304820.2	+	1	334	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAGTCCCAAAGATGCTCGTGA	0.388000													7	182					2.0095e-06	2.31757e-06	1	1	0
ELMSAN1	91748	broad.mit.edu	37	14	74205452	74205452	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74205452G>A	ENST00000286523.5	-	2	2042	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	ELMSAN1_ENST00000394071.2_Silent_p.G420G	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.Q408fs*65(1)									CTCGCTCCCGGCCATTGGGTG	0.662000													14	19					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831663	58831663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831663C>T	ENST00000355431.3	+	20	3229	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	ARID4A_ENST00000431317.2_Silent_p.I952I|ARID4A_ENST00000348476.3_Silent_p.I952I|ARID4A_ENST00000395168.3_Silent_p.I952I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	952	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I952I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCCTCTGATCGGGCCTGAAA	0.408000													48	64					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361952	45361952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45361952C>T	ENST00000559488.1	+	4	521	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ITGB3_ENST00000571680.1_Nonsense_Mutation_p.R169*|ITGB3_ENST00000560629.1_Missense_Mutation_p.A157V|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R122*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCCAGATGCGAAAGCTCAC	0.527000													40	68					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47193909	47193909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47193909C>T	ENST00000433867.1	-	14	2234	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R586H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	586	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562000													15	41					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100006188	100006188	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100006188G>T	ENST00000398027.2	-	10	1210	c.963C>A	c.(961-963)atC>atA	p.I321I	ZCWPW1_ENST00000490721.1_Silent_p.I201I|ZCWPW1_ENST00000360951.4_Silent_p.I322I|ZCWPW1_ENST00000324725.6_Silent_p.I201I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	321	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTTGGCCCAGATGATGGATC	0.512000													68	59					1.88737e-50	2.55231e-50	1	1	0
IGHV4OR15-8	0	broad.mit.edu	37	15	22472960	22472960	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22472960G>T	ENST00000557788.2	-	0	310																											GGCGGTCACAGAGCTCAGCTT	0.567000													60	19					8.21609e-47	1.11026e-46	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956680	42956680	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956680A>C	ENST00000541208.1	+	5	1484	c.1115A>C	c.(1114-1116)aAg>aCg	p.K372T	ZNF662_ENST00000440367.2_Missense_Mutation_p.K372T|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K398T|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTTTTGCAAGGCACATCTT	0.443000													8	53					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512552	71512552	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512552G>T	ENST00000370924.4	-	1	939	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	PTGER3_ENST00000354608.5_Missense_Mutation_p.L237M|PTGER3_ENST00000356595.4_Missense_Mutation_p.L237M|PTGER3_ENST00000370932.2_Missense_Mutation_p.L237M|PTGER3_ENST00000306666.5_Missense_Mutation_p.L237M|PTGER3_ENST00000351052.5_Missense_Mutation_p.L237M|PTGER3_ENST00000414819.1_Missense_Mutation_p.L237M|PTGER3_ENST00000370931.3_Missense_Mutation_p.L237M|PTGER3_ENST00000460330.1_Missense_Mutation_p.L237M	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	237					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AAGAGCCCCAGGAAGGCAAAG	0.632000													4	72					0.184627	0.186383	1	1	0
FAM160B1	57700	broad.mit.edu	37	10	116590682	116590682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116590682G>A	ENST00000369248.4	+	2	452	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM160B1_ENST00000369250.3_Silent_p.E39E|FAM160B1_ENST00000369246.1_Silent_p.E39E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	39				E -> G (in Ref. 1; CAI45992).				p.E39D(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308000													23	57					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12056244	12056244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12056244G>A	ENST00000235329.5	+	5	665	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MFN2_ENST00000444836.1_Missense_Mutation_p.A115T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	115					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGATCAATGCCATGCTCTG	0.517000													24	30					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815437	130815437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815437T>C	ENST00000509018.1	-	16	2055	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E617G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E332G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E617G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E667G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAAGTAACTCTTTGAACAC	0.328000													8	69					0	0	1	0	0
IGHV3-49	0	broad.mit.edu	37	14	107012998	107012998	+	RNA	SNP	G	G	A	rs113334719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107012998G>A	ENST00000390625.2	-	0	376																											GCAGATAGGCGATGCTTTTGG	0.478000													39	91					0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020051	112020051	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112020051G>A	ENST00000343534.5	+	4	452		c.e4+1		C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TACAGAAAATGTAAGTGGTCT	0.448000													25	35					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498602	4498602	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4498602G>T	ENST00000389313.4	+	5	1036	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SMTNL2_ENST00000338859.4_Missense_Mutation_p.E179D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	323										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAAGTGGGAGCAGGAAACGG	0.692000													4	19					0.014758	0.0152625	1	1	0
MRPL39	54148	broad.mit.edu	37	21	26972178	26972178	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26972178A>G	ENST00000307301.7	-	5	562	c.520_splice	c.e5-1	p.V174_splice	MRPL39_ENST00000352957.4_Splice_Site_p.V174_splice	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	174						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAAATTACTGTAAATCC	0.333000													19	40					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174235157	174235157	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174235157T>C	ENST00000265000.4	+	9	1521	c.1438T>C	c.(1438-1440)Ttc>Ctc	p.F480L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	480					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TAAAGACTACTTCTATGCTAG	0.318000													3	67					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522049	102522049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102522049C>A	ENST00000321521.9	+	27	3771	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	PPIP5K2_ENST00000358359.3_Silent_p.T1066T|PPIP5K2_ENST00000414217.1_Silent_p.T1066T|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1066					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTAGCACCTCGGTGCTCG	0.493000													22	14					3.62473e-10	4.44982e-10	1	1	0
MAP3K1	4214	broad.mit.edu	37	5	56181881	56181881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56181881G>T	ENST00000399503.3	+	17	4105	c.4105G>T	c.(4105-4107)Gat>Tat	p.D1369Y		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1369	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.D1369H(1)|p.D1206H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATTCACAGAGATGTCAAAGG	0.363000													4	78					0.00024832	0.0002712	1	1	0
NPSR1	387129	broad.mit.edu	37	7	34888157	34888157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34888157C>T	ENST00000360581.1	+	8	1035	c.907C>T	c.(907-909)Cca>Tca	p.P303S	NPSR1_ENST00000381542.1_Missense_Mutation_p.P237S|NPSR1_ENST00000531252.1_Missense_Mutation_p.P292S|NPSR1_ENST00000381539.3_Missense_Mutation_p.P303S|NPSR1_ENST00000359791.1_Missense_Mutation_p.P303S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	303						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACCTCCTTCCAGACACCCA	0.493000													101	253					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751405	19751405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19751405G>A	ENST00000269216.3	+	2	577	c.300G>A	c.(298-300)gcG>gcA	p.A100A	GATA6_ENST00000581694.1_Silent_p.A100A	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	100					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTGGGGTCGCGGGCCCCGGGG	0.731000													6	8					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71025246G>A	ENST00000393567.2	-	25	3989	c.3839C>T	c.(3838-3840)aCg>aTg	p.T1280M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280								p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463000													29	42					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165561493	165561493	+	Silent	SNP	C	C	T	rs138711091	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165561493C>T	ENST00000375458.2	-	7	1340	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	COBLL1_ENST00000194871.6_Silent_p.P439P|COBLL1_ENST00000409184.3_Silent_p.P411P|COBLL1_ENST00000342193.4_Silent_p.P373P|COBLL1_ENST00000392717.2_Silent_p.P411P|COBLL1_ENST00000491126.2_5'UTR	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	411										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACTTTGATGCGGGGGTATTT	0.423000													79	145					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186147631	186147631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186147631C>A	ENST00000271588.4	+	104	16256	c.16027C>A	c.(16027-16029)Cca>Aca	p.P5343T	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5343	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCTGTCCACCAGGACAACA	0.478000													24	189					9.57634e-11	1.18454e-10	1	1	0
FOXN4	121643	broad.mit.edu	37	12	109719221	109719221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719221C>T	ENST00000299162.5	-	9	1389	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A249T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	429					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CCCTGCAGAGCGAAGTCCATG	0.612000													17	34					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895487	43895487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43895487C>T	ENST00000562955.1	+	28	4109	c.4109C>T	c.(4108-4110)gCc>gTc	p.A1370V	SZT2_ENST00000372442.1_Missense_Mutation_p.A528V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1427						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAGGAGAGGCCCATGGTGCC	0.582000													23	31					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68939479	68939479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68939479G>A	ENST00000288368.4	+	5	741	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R155Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGGAGGACGGAAGAACACA	0.358000													29	52					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655508	142655508	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142655508C>A	ENST00000355265.2	-	5	882	c.408G>T	c.(406-408)caG>caT	p.Q136H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	136					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCAGGAATTCTGGACCTCTA	0.502000													5	69					0.000602214	0.000649039	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56388803	56388803	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56388803C>T	ENST00000262493.6	+	8	1749	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	301					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGACGCAGCCGCCTACATCC	0.507000													13	33					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101891755	101891755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101891755C>T	ENST00000360264.3	+	24	4004	c.3984C>T	c.(3982-3984)ggC>ggT	p.G1328G	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.G1215G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G1159G|CUX1_ENST00000550008.2_Silent_p.G1261G|CUX1_ENST00000549414.2_Silent_p.G1295G|CUX1_ENST00000292535.7_Silent_p.G1317G|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGGCGGGCGCCAGCGACT	0.711000													5	7					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185183647	185183647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185183647G>A	ENST00000367500.4	+	14	2146	c.1981G>A	c.(1981-1983)Gca>Aca	p.A661T	SWT1_ENST00000367501.3_Missense_Mutation_p.A661T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	661										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGCTAATAAGGCAGTGGATTT	0.303000													25	75					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383000													8	154					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220206995	220206995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220206995A>G	ENST00000366923.3	-	4	506	c.237T>C	c.(235-237)gaT>gaC	p.D79D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	79					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCAACCAGTGATCAATCTGTC	0.318000													29	47					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905180	9905180	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9905180G>C	ENST00000380913.3	+	7	3684	c.3594G>C	c.(3592-3594)gaG>gaC	p.E1198D	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E33D|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1198					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGAATTGAGCGGGTGATGG	0.577000													3	3					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50860015	50860015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50860015G>A	ENST00000395562.2	+	12	1820	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CHAT_ENST00000455728.2_Missense_Mutation_p.A415T|CHAT_ENST00000395559.2_Missense_Mutation_p.A415T|CHAT_ENST00000337653.2_Missense_Mutation_p.A533T|CHAT_ENST00000351556.3_Missense_Mutation_p.A415T|CHAT_ENST00000339797.1_Missense_Mutation_p.A415T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	533					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGCCCTGATGCCTTCATCCA	0.468000													7	28					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437739	125437739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437739G>T	ENST00000304820.2	+	1	425	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGAAACATAGATAGTTATCT	0.433000													52	110					2.24059e-37	3.01833e-37	1	1	0
CYSLTR1	0	broad.mit.edu	37	X	77528397	77528397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528397G>T	ENST00000373304.3	-	3	1139	c.847C>A	c.(847-849)Ctg>Atg	p.L283M		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	283					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GATGCAGCCAGAGACAAGGTT	0.403000													4	66					0.00024832	0.0002712	1	1	0
PROCA1	147011	broad.mit.edu	37	17	27031790	27031790	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27031790C>T	ENST00000301039.2	-	2	356	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592000													21	30					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114154072	114154072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114154072A>G	ENST00000259335.4	-	30	3658	c.3659T>C	c.(3658-3660)gTa>gCa	p.V1220A	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.V1042A	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTTGAAATACCACTGTCTC	0.338000													5	12					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789968	21789968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21789968C>T	ENST00000328843.6	+	55	8978	c.8947C>T	c.(8947-8949)Cga>Tga	p.R2983*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R2976*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCAGGGTGCGACTACAGCT	0.373000									Kartagener syndrome				3	11					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13107046	13107046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13107046C>A	ENST00000319217.7	-	47	6378	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I	MPDZ_ENST00000546205.1_Missense_Mutation_p.S2058I|MPDZ_ENST00000381015.4_Missense_Mutation_p.S2044I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S2015I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S2015I|MPDZ_ENST00000538841.1_Missense_Mutation_p.S903I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1982I|MPDZ_ENST00000541093.1_Missense_Mutation_p.S278I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S2011I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2044	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTCTAGACTCTGCCCATT	0.448000													49	111					3.50607e-19	4.58539e-19	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167865875	167865875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167865875A>G	ENST00000367848.1	-	7	918	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R	ADCY10_ENST00000367851.4_Missense_Mutation_p.C233R|ADCY10_ENST00000545172.1_Missense_Mutation_p.C80R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	233	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGTCGTACACTTTGTGAAA	0.363000													25	311					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5050690	5050690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050690G>A	ENST00000381652.3	+	6	967	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	JAK2_ENST00000539801.1_Missense_Mutation_p.R158Q|JAK2_ENST00000544510.1_Missense_Mutation_p.R9Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	158	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTTAGTGGCGGCATGATTTT	0.328000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				13	34					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424984	5424984	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5424984A>T	ENST00000345221.3	-	13	4197	c.3643T>A	c.(3643-3645)Ttg>Atg	p.L1215M	NLRP1_ENST00000354411.3_Missense_Mutation_p.L1185M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L1215M|NLRP1_ENST00000572272.1_Missense_Mutation_p.L1215M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L1185M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L1219M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1215					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGACTCCCAAGGGGGAGAAG	0.542000													5	61					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119036673	119036673	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119036673G>A	ENST00000298472.5	+	16	1584	c.1440_splice	c.e16-1	p.A481_splice	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	481					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTTTTAGGCTATTCTCAT	0.313000													13	28					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859762	100859762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100859762C>A	ENST00000223127.3	-	3	665	c.267G>T	c.(265-267)aaG>aaT	p.K89N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	89					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCACCGGACCTTCTGTCCTC	0.577000													14	38					6.31663e-08	7.49729e-08	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93786957	93786957	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93786957A>G	ENST00000265990.6	+	37	5614	c.5306A>G	c.(5305-5307)aAa>aGa	p.K1769R	BTAF1_ENST00000544642.1_Missense_Mutation_p.K597R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1769	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGGTTGCAGAAATTCAAGATG	0.378000													18	96					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400981	89400981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89400981C>A	ENST00000439576.2	+	12	5539	c.5165C>A	c.(5164-5166)tCt>tAt	p.S1722Y	ACAN_ENST00000352105.7_Missense_Mutation_p.S1722Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S1722Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1722Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1722					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATCTGGGTCTCCTGATGTC	0.527000													67	111					6.06247e-24	8.03456e-24	1	1	0
ZNF571	51276	broad.mit.edu	37	19	38055937	38055937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38055937G>A	ENST00000328550.2	-	4	1492	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.H465Y|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTTCTCATGTTGAGTAAGA	0.363000													5	85					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121756220	121756220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121756220G>A	ENST00000261819.3	-	15	1874	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ANAPC5_ENST00000541887.1_Silent_p.L572L|ANAPC5_ENST00000535482.1_Silent_p.L251L|ANAPC5_ENST00000441917.2_Silent_p.L473L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Silent_p.L473L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	585					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCACGGACAGTAGGACACTG	0.542000													20	31					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91491397	91491397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91491397G>A	ENST00000394275.2	+	15	2411	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	UNC45A_ENST00000418476.2_Missense_Mutation_p.A541T	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	541					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAGATCGACGCAGGCACTCG	0.602000													30	61					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56397210	56397210	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56397210C>T	ENST00000370754.5	-	64	16946	c.16947G>A	c.(16945-16947)gtG>gtA	p.V5649V	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.V5471V|DST_ENST00000421834.2_Silent_p.V3383V|DST_ENST00000370788.2_Silent_p.V3383V|DST_ENST00000244364.6_Silent_p.V3057V|DST_ENST00000361203.3_Silent_p.V5469V|DST_ENST00000446842.2_Silent_p.V5145V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5469					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAATCTTCACTTTATCTG	0.403000													15	18					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299312	175299312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175299312G>A	ENST00000367674.1	-	21	4399	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1231W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1231	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCCATCCCGCATGTCCACG	0.577000													24	22					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122285375	122285375	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122285375G>A	ENST00000263710.4	-	5	859	c.470_splice	c.e5+1	p.A157_splice	CLASP1_ENST00000397587.3_Splice_Site_p.A157_splice|CLASP1_ENST00000541377.1_Splice_Site_p.A157_splice|CLASP1_ENST00000455322.2_Splice_Site_p.A157_splice|CLASP1_ENST00000409078.3_Splice_Site_p.A157_splice	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	157					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAGACTTACGCATTGAGTGT	0.383000													11	23					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870782	111870782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111870782C>A	ENST00000305815.5	-	28	3698	c.3446G>T	c.(3445-3447)aGg>aTg	p.R1149M	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1101M	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1149					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGGGGACTCCTGGCAGTGGC	0.527000													14	37					1.99824e-07	2.35189e-07	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14775117	14775117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14775117G>T	ENST00000261170.3	-	22	2559	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	808					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCCTTCAGAGACTTTACCAC	0.388000													4	34					0.00909568	0.00947522	1	1	0
ZDHHC17	23390	broad.mit.edu	37	12	77220687	77220687	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77220687G>T	ENST00000426126.2	+	9	1546		c.e9-1		ZDHHC17_ENST00000334822.5_Splice_Site	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17						lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCTATACAGGAATTTCGGC	0.358000													20	55					1.64293e-13	2.0847e-13	1	1	0
LRP2	4036	broad.mit.edu	37	2	170094773	170094773	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170094773T>G	ENST00000263816.3	-	27	4619	c.4334A>C	c.(4333-4335)aAa>aCa	p.K1445T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1445					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCAATAATTTTGTTCTGACT	0.378000													3	44					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269043G>T	ENST00000405948.2	+	7	1832	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471M	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398000													12	143					4.3838e-07	5.12524e-07	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190119	5190119	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5190119C>A	ENST00000274181.7	+	7	1221	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	ADAMTS16_ENST00000511368.1_Silent_p.T361T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	361	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACCACACCTTAAGTAGCT	0.483000													8	68					0.000157383	0.00017284	1	1	0
MTF2	22823	broad.mit.edu	37	1	93594929	93594929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93594929G>T	ENST00000370298.4	+	11	1373	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000370303.4_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	362						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TTTCAAAGCAGAGAAAGAACC	0.378000													6	175					0.00198382	0.00210581	1	1	0
METAP2	10988	broad.mit.edu	37	12	95887833	95887833	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95887833C>T	ENST00000323666.5	+	5	659	c.428_splice	c.e5-1	p.R144_splice	METAP2_ENST00000546753.1_Splice_Site_p.R121_splice|METAP2_ENST00000261220.9_Splice_Site_p.R121_splice|METAP2_ENST00000551840.1_Splice_Site_p.R143_splice|METAP2_ENST00000550777.1_Splice_Site_p.R108_splice	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	144					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ACTCTAAAGGCGAACAGCTGC	0.373000													29	35					0	0	1	0	0
MIR154	0	broad.mit.edu	37	14	101526115	101526115	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101526115C>T	ENST00000385243.1	+	0	24					NR_029704.1																						ATAGGTTATCCGTGTTGCCTT	0.502000													5	96					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	923					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652000													24	30					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1747248	1747248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747248C>T	ENST00000254719.5	+	3	229	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	40					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AATAGTCCGCCGCGTTATCGA	0.458000								Nucleotide excision repair (NER)					27	40					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2411695	2411695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2411695G>T	ENST00000263645.5	+	2	376	c.120G>T	c.(118-120)caG>caT	p.Q40H	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.Q78H|CD81_ENST00000492627.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	40					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGACCCGCAGACCACCAACC	0.617000													10	97					1.58986e-06	1.84011e-06	1	1	0
ELF4	2000	broad.mit.edu	37	X	129208064	129208064	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129208064A>G	ENST00000308167.5	-	4	679	c.300T>C	c.(298-300)aaT>aaC	p.N100N	ELF4_ENST00000335997.7_Silent_p.N100N	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	100	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGACTCCATATTGAGTAAGA	0.478000			T	ERG	AML								8	118					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40133900	40133900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133900C>T	ENST00000181839.4	+	14	4465	c.3860C>T	c.(3859-3861)aCc>aTc	p.T1287I	CDK13_ENST00000340829.5_Missense_Mutation_p.T1227I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1287					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTACCCACCACCAGTTCTTCA	0.542000													29	104					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936083	57936083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57936083G>A	ENST00000358697.4	-	1	984	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	258					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCAGAGCCCAGCAGTCCGCGG	0.721000													5	6					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10302299	10302299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10302299G>A	ENST00000287652.4	+	3	1944	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	TATDN2_ENST00000448281.2_Missense_Mutation_p.C298Y|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	298						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTGACAAATGCTCTCCACCC	0.468000													8	91					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464590	5464590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464590C>T	ENST00000296564.7	+	13	5365	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1715	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCTCCTCTGCAGTTCTGTGC	0.627000													19	34					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197318	12197318	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12197318C>T	ENST00000379051.1	+	7	622	c.471C>T	c.(469-471)caC>caT	p.H157H	SEC61A2_ENST00000298428.9_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000495368.1_Intron			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	0						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGGATCAACACAGCCCTTAGA	0.299000													6	9					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85692981	85692981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85692981C>T	ENST00000526033.1	-	15	1877	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	PICALM_ENST00000528398.1_Missense_Mutation_p.A427T|PICALM_ENST00000393346.3_Missense_Mutation_p.A528T|PICALM_ENST00000356360.5_Missense_Mutation_p.A528T|PICALM_ENST00000532317.1_Missense_Mutation_p.A478T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	528					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGGAGTTTGGCAACAGGAAGG	0.403000			T	"""MLLT10, MLL"""	"""TALL, AML, """								5	75					0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170889156	170889156	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170889156T>C	ENST00000541970.1	-	4	774	c.696A>G	c.(694-696)aaA>aaG	p.K232K	PDCD2_ENST00000542896.1_Silent_p.K232K|PDCD2_ENST00000392090.2_Silent_p.K199K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	232					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TGGATTCATGTTTTGCCATGG	0.393000													5	44					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17573323	17573323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17573323G>T	ENST00000381869.3	-	4	2848	c.2375C>A	c.(2374-2376)cCt>cAt	p.P792H	MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93H|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846H|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792H	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATACCAAAGGCTTCAAATA	0.433000													56	88					1.70205e-38	2.29419e-38	1	1	0
MAP3K2	10746	broad.mit.edu	37	2	128072388	128072388	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128072388C>T	ENST00000409947.1	-	15	1680	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	MAP3K2_ENST00000344908.5_Silent_p.Q466Q			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	466	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CCTCCAGAATCTGACGGGTGT	0.343000													7	15					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898709	49898709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49898709G>A	ENST00000477224.1	-	6	944	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CAMKV_ENST00000466940.1_Missense_Mutation_p.R113W|CAMKV_ENST00000488336.1_Missense_Mutation_p.R156W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R156W|CAMKV_ENST00000467248.1_Missense_Mutation_p.R81W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R156W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	156	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTTCAGCCGGTTGTAGTAA	0.527000													10	29					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868478	58868478	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868478G>A	ENST00000311044.3	-	3	712	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ZNF497_ENST00000425453.3_Missense_Mutation_p.S175L|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GATGAGCTGCGAGTGCGCGCG	0.677000													8	8					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325372	152325372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325372A>C	ENST00000388718.5	-	3	4962	c.4890T>G	c.(4888-4890)caT>caG	p.H1630Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1630							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGTGGGAATGTCCAGTGG	0.507000													11	339					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627882	153627882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627882T>G	ENST00000424325.2	+	4	325	c.137T>G	c.(136-138)tTt>tGt	p.F46C	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.F46C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	46					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGATGAGTTTCCGCTTTGT	0.522000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	113					0	0	1	0	0
C19orf66	55337	broad.mit.edu	37	19	10200023	10200023	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10200023A>G	ENST00000397881.3	+	3	488	c.11A>G	c.(10-12)cAt>cGt	p.H4R	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Intron|C19orf66_ENST00000591813.1_Intron			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	0										large_intestine(3)|skin(1)	4						ATGTCACAACATCAACAAGCA	0.547000													7	17					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589951	156589951	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589951T>G	ENST00000302938.4	-	2	1420	c.1325A>C	c.(1324-1326)aAa>aCa	p.K442T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	442						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGAACTTTTCCTACTGGG	0.502000													5	139					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201292216	201292216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201292216G>A	ENST00000263946.3	+	10	1893	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	PKP1_ENST00000367324.3_Missense_Mutation_p.A527T|PKP1_ENST00000352845.3_Missense_Mutation_p.A548T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	548					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCATTCAGATGCCATCCGCAC	0.582000													43	103					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400565	85400565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85400565A>G	ENST00000258888.5	+	6	3369	c.3202A>G	c.(3202-3204)Acg>Gcg	p.T1068A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1068					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTACCCACGATGCCTTC	0.652000													6	24					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109181	123109181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123109181G>A	ENST00000264501.4	+	9	1132	c.759G>A	c.(757-759)aaG>aaA	p.K253K	KIAA1109_ENST00000455637.1_Silent_p.K253K|KIAA1109_ENST00000388738.3_Silent_p.K253K			Q2LD37	K1109_HUMAN	KIAA1109	253					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAAAGGAAAGCTTGAAAATG	0.323000													4	62					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637000													13	33					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7751261	7751261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7751261G>A	ENST00000254846.5	+	11	2044	c.1655G>A	c.(1654-1656)aGc>aAc	p.S552N	KDM6B_ENST00000448097.2_Missense_Mutation_p.S552N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	552	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAACCACcagcagtagcaac	0.637000													13	25					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422079	81422079	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422079C>A	ENST00000541158.2	+	2	377	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	TSHR_ENST00000342443.6_Missense_Mutation_p.L19M|TSHR_ENST00000298171.2_Missense_Mutation_p.L19M|TSHR_ENST00000554263.1_Missense_Mutation_p.L19M|TSHR_ENST00000554435.1_Missense_Mutation_p.L19M|TSHR_ENST00000557096.1_3'UTR			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	19					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCCAGGGACCTGGGCGGAAT	0.612000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	80					5.18039e-06	5.91835e-06	1	1	0
PTGS1	5742	broad.mit.edu	37	9	125154616	125154616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125154616G>T	ENST00000362012.2	+	11	1598	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PTGS1_ENST00000223423.4_Missense_Mutation_p.K494N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K422N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K469N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	531					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTTCCCTCAAGGGTCTCCTAG	0.512000													11	108					2.27111e-07	2.66951e-07	1	1	0
ANKMY2	57037	broad.mit.edu	37	7	16642112	16642112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642112C>T	ENST00000306999.2	-	9	1277	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	345						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTTTTCTGGCAGGTTTGATC	0.363000													75	83					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074335	8074335	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8074335C>A	ENST00000377482.5	-	4	547	c.324G>T	c.(322-324)gaG>gaT	p.E108D	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	108					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAACTTGATCCTCTTCATGTG	0.473000													12	167					0.00136819	0.00146042	1	1	0
PIGX	54965	broad.mit.edu	37	3	196454886	196454886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196454886G>T	ENST00000314118.4	+	4	570	c.288G>T	c.(286-288)caG>caT	p.Q96H	PIGX_ENST00000421265.1_Missense_Mutation_p.Q96H|PIGX_ENST00000541663.1_Missense_Mutation_p.Q29H	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	137					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAGATTCACAGTGCATTGACT	0.448000													4	112					5.9392e-07	6.91975e-07	1	1	0
CAD	790	broad.mit.edu	37	2	27461971	27461971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27461971G>T	ENST00000264705.4	+	32	5286	c.5124G>T	c.(5122-5124)gaG>gaT	p.E1708D	CAD_ENST00000403525.1_Missense_Mutation_p.E1645D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1708	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGGGTTAGAGACCATGCTGC	0.602000													5	55					0.0215528	0.0221649	1	1	0
BAIAP2L2	80115	broad.mit.edu	37	22	38493048	38493048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38493048G>T	ENST00000381669.3	-	7	747	c.603C>A	c.(601-603)ttC>ttA	p.F201L	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.F201L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	201	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCCGGCCGAAGAACTGCAGGA	0.602000													5	12					0.014758	0.0152625	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141072547	141072547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072547G>A	ENST00000389484.3	-	83	13733	c.12762C>T	c.(12760-12762)agC>agT	p.S4254S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4254	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTAGTTGCTACAGTGGT	0.373000										TSP Lung(27;0.18)			16	33					0	0	1	0	0
UBL5	59286	broad.mit.edu	37	19	9939539	9939539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9939539C>A	ENST00000358666.3	+	4	351	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	UBL5_ENST00000590068.1_Missense_Mutation_p.S56Y|UBL5_ENST00000593087.1_Missense_Mutation_p.L27I|UBL5_ENST00000589960.1_Intron|UBL5_ENST00000586895.1_Missense_Mutation_p.S56Y	NM_024292.3	NP_077268.1	Q9BZL1	UBL5_HUMAN	ubiquitin-like 5	56	Ubiquitin-like.					cytoplasm				kidney(1)|lung(1)	2						GACCACGTGTCTCTGGGGGAC	0.438000													36	99					1.89013e-27	2.52243e-27	1	1	0
IMPDH1	3614	broad.mit.edu	37	7	128040230	128040230	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128040230T>C	ENST00000338791.6	-	9	1143	c.793A>G	c.(793-795)Acg>Gcg	p.T265A	IMPDH1_ENST00000354269.5_Missense_Mutation_p.T255A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.T175A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T229A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T155A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T155A|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T179A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T232A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T196A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	180					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTGGCGTCATCACCTGT	0.572000													57	122					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990716	197990716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197990716T>C	ENST00000328737.2	-	5	308	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	ANKRD44_ENST00000409153.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R95G|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R31G|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R78G|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R78G|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R103G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	103							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCTTGTCCCTTGCATTGACA	0.468000													11	102					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49918607	49918607	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49918607A>C	ENST00000553127.1	+	14	1767	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	SPATS2_ENST00000552918.1_Missense_Mutation_p.K418N|SPATS2_ENST00000321898.6_Missense_Mutation_p.K418N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	418						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTAACAAGAAAAACTTTGCAC	0.532000													30	38					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105352885	105352885	+	Missense_Mutation	SNP	G	G	A	rs60001925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105352885G>A	ENST00000453495.1	+	12	2540	c.2312G>A	c.(2311-2313)cGc>cAc	p.R771H	CEP170B_ENST00000418279.1_Missense_Mutation_p.R700H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R700H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R770H					centrosomal protein 170B																		GACAGCAGACGCAGGAGCCCC	0.692000													4	4					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203472684	203472684	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203472684C>T	ENST00000367222.2	+	7	951	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	279						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGAATAACCTGATAGAGAC	0.562000													13	61					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155210521	155210521	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155210521G>A	ENST00000460012.1	-	18	2571	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	PLCH1_ENST00000334686.6_Silent_p.G738G|PLCH1_ENST00000340059.7_Silent_p.G756G|PLCH1_ENST00000414191.1_Silent_p.G738G|PLCH1_ENST00000447496.2_Silent_p.G756G|PLCH1_ENST00000494598.1_Silent_p.G756G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	756	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTTACCTCGCCTCGATCTC	0.438000													30	28					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539701	111539701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539701G>T	ENST00000354925.2	-	7	2239	c.534C>A	c.(532-534)aaC>aaA	p.N178K	PITX2_ENST00000306732.3_Missense_Mutation_p.N185K|PITX2_ENST00000394598.2_Missense_Mutation_p.N178K|PITX2_ENST00000394595.3_Missense_Mutation_p.L110M|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.N132K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	178					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGGCCCAGTTGTTGTAGG	0.552000													24	20					1.85244e-09	2.25385e-09	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75039105	75039105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039105C>T	ENST00000326665.5	-	14	2507	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGTTTTTTGCACCAATTGCT	0.423000													8	86					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769783	144769783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144769783G>T	ENST00000367545.3	+	16	1950	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	650	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCCTCAGAAGGACCTTTTGG	0.428000													11	102					1.61879e-10	1.99744e-10	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26820593	26820593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820593C>T	ENST00000444914.3	+	7	1450	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	SLC13A2_ENST00000314669.5_Missense_Mutation_p.R295W|SLC13A2_ENST00000545060.1_Missense_Mutation_p.R252W|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R224W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	295						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCAGCTTCCGGAAGAACTT	0.622000													5	9					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057179	72057179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72057179C>A	ENST00000378743.3	-	1	570	c.212G>T	c.(211-213)gGc>gTc	p.G71V	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G71V|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G71V|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	71	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGAAGAGCCACCGCCTCC	0.682000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	50					3.11337e-16	4.01248e-16	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139101	178139101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178139101A>T	ENST00000335815.2	-	5	1975	c.1778T>A	c.(1777-1779)cTt>cAt	p.L593H		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	593					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGATTAGTAAGGGATGACCT	0.368000													6	79					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78437139	78437139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78437139G>T	ENST00000278550.7	-	23	3997	c.3535C>A	c.(3535-3537)Ctc>Atc	p.L1179I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGAATGTTGAGGGCATGATGT	0.453000													23	280					6.21321e-17	8.03594e-17	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137721960	137721960	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721960T>A	ENST00000314358.5	+	7	1230	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAGCCACCGTCTACATTTGT	0.572000													19	160					0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157181872	157181872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157181872G>A	ENST00000286307.5	+	4	739	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	228					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTGATCGGCTGAAACTT	0.368000													25	34					0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99811658	99811658	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99811658T>G	ENST00000410042.1	+	6	566	c.359T>G	c.(358-360)gTt>gGt	p.V120G	MRPL30_ENST00000338148.3_Intron|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Intron			Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATAAGGTTTGTTGTTTCTTCT	0.303000													44	62					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797251	241797251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241797251G>T	ENST00000366553.1	-	1	1981	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	606					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTGGAGGGCAGAATTCTTCAG	0.453000													20	104					1.50039e-11	1.87199e-11	1	1	0
CTF1	1489	broad.mit.edu	37	16	30910766	30910766	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30910766T>G	ENST00000279804.2	+	2	93	c.56T>G	c.(55-57)cTt>cGt	p.L19R	CTF1_ENST00000395019.3_Missense_Mutation_p.L18R	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	19					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCAGTCTCACTTCTTCCCCAC	0.562000													4	53					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126146102	126146102	+	Silent	SNP	G	G	A	rs145330954	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126146102G>A	ENST00000373624.2	-	21	1869	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	DENND1A_ENST00000542603.1_Silent_p.G341G|DENND1A_ENST00000394219.3_Silent_p.G567G|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	556						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGGACAGGGCCTGTGGACT	0.657000													34	66					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22945582	22945582	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22945582C>T	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRAJ59_ENST00000390480.2_RNA																							GGAATGGGGACGCAAGTGAGA	0.413000													5	12					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104742434	104742434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104742434G>A	ENST00000334877.4	+	17	2523	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	KMT2E_ENST00000311117.3_Silent_p.Q663Q|KMT2E_ENST00000257745.4_Silent_p.Q663Q|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ACATTGGACAGCAGCGTCGGA	0.398000													61	52					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819191	205819191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205819191G>A	ENST00000367136.4	-	1	54	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	4						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAACGCACCGCTGAGCCATG	0.592000													20	22					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541148	133541148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133541148G>A	ENST00000409261.1	-	14	3609	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1079M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1079							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGAGGACGTCATTTCCAG	0.507000													90	131					0	0	1	0	0
GPR56	0	broad.mit.edu	37	16	57693391	57693391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57693391C>T	ENST00000562631.1	+	11	1885	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	GPR56_ENST00000379696.3_Silent_p.D457D|GPR56_ENST00000567835.1_Silent_p.D457D|GPR56_ENST00000456916.1_Silent_p.D457D|GPR56_ENST00000379694.4_Silent_p.D287D|GPR56_ENST00000538815.1_Silent_p.D451D|GPR56_ENST00000544297.1_Silent_p.D276D|GPR56_ENST00000388813.5_Silent_p.D451D|GPR56_ENST00000562558.1_Silent_p.D451D|GPR56_ENST00000568908.1_Silent_p.D451D|GPR56_ENST00000568909.1_Silent_p.D457D|GPR56_ENST00000388812.4_Silent_p.D457D|GPR56_ENST00000540164.2_Silent_p.D451D			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	457					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCTGCTGGACACGAGCTTCC	0.637000													11	37					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68468894	68468894	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68468894C>T	ENST00000545237.1	+	12	2130	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PIAS1_ENST00000249636.6_Silent_p.D461D|PIAS1_ENST00000567417.1_3'UTR			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	461	SUMO1-binding (By similarity).				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGTGATTGACCTAACCATAG	0.433000													9	83					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75967619	75967619	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75967619G>A	ENST00000274364.6	+	24	3176	c.2879G>A	c.(2878-2880)gGt>gAt	p.G960D	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G456D|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G456D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G462D	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	960	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGTTACTGGTAACCCTACA	0.433000													25	34					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234201038	234201038	+	Missense_Mutation	SNP	C	C	A	rs144457166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201038C>A	ENST00000392017.4	+	16	1843	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	ATG16L1_ENST00000392018.1_Missense_Mutation_p.P546H|ATG16L1_ENST00000347464.5_Missense_Mutation_p.P366H|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P350H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P510H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	529				P -> T (in Ref. 5; BAB55412).	autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCAGTGCACCTGGGTTCAAG	0.562000													8	21					0.00448238	0.00472561	1	1	0
KIF23	9493	broad.mit.edu	37	15	69733243	69733243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69733243C>T	ENST00000260363.4	+	18	2321	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T735M|KIF23_ENST00000559279.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	735					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAATTCCTACGTACAACACA	0.493000													4	48					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427785	47427785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427785C>T	ENST00000295454.3	+	9	1467	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	GABRB1_ENST00000538619.1_Missense_Mutation_p.A322V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	392					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACCCCAAGGCCACCATGTAC	0.647000													31	28					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20660111	20660111	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20660111T>G	ENST00000382869.3	+	25	4342	c.4091T>G	c.(4090-4092)aTt>aGt	p.I1364S	ZMYM2_ENST00000382870.2_Missense_Mutation_p.I744S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I1364S|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I1364S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTAAAAGATATTTATGATAAA	0.393000													7	42					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142780045	142780045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142780045C>T	ENST00000343796.2	-	2	1353	c.360G>A	c.(358-360)aaG>aaA	p.K120K	NR3C1_ENST00000231509.3_Silent_p.K120K|NR3C1_ENST00000503201.1_Silent_p.K120K|NR3C1_ENST00000424646.2_Silent_p.K120K|NR3C1_ENST00000504572.1_Silent_p.K120K|NR3C1_ENST00000415690.2_Silent_p.K120K|NR3C1_ENST00000394466.2_Silent_p.K120K|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Silent_p.K120K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	120	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTCCAAAAGCTTTAAGTCTG	0.498000													54	83					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926976	112926976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926976G>A	ENST00000351677.2	+	13	1794	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	536					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGAAGAAGAGCAGGTACCAG	0.502000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				8	131					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7044729	7044729	+	Missense_Mutation	SNP	G	G	A	rs147036555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7044729G>A	ENST00000389658.3	-	7	1061	c.968C>T	c.(967-969)aCa>aTa	p.T323I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	323	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTCACATGTATTGCCGGA	0.468000													51	75					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314714	107314714	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107314714C>A	ENST00000265715.3	+	5	745	c.521C>A	c.(520-522)aCt>aAt	p.T174N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	174					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATACTACTATGATAGAC	0.438000									Pendred syndrome				53	59					1.54886e-18	2.02154e-18	1	1	0
PCDHGC4	0	broad.mit.edu	37	5	140864800	140864800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140864800C>T	ENST00000306593.1	+	1	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTCCTCTTTTACCACC	0.552000													18	34					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834640	120834640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120834640C>T	ENST00000263713.5	+	8	813	c.599C>T	c.(598-600)gCt>gTt	p.A200V	EPB41L5_ENST00000331393.4_Missense_Mutation_p.A200V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.A200V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A200V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	200	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGGAACTGGCTATTTTTGAG	0.373000													16	155					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079661	44079661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44079661G>A	ENST00000262726.7	-	12	1470	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A254V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	406	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCAGTGACGCAGAGTGATC	0.363000													47	91					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708695	60708695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60708695C>T	ENST00000227880.3	-	5	1408	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	392					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTCGATCAAGCGGTCCTTCAG	0.577000													12	12					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343000													26	36					9.86323e-18	1.2813e-17	1	1	0
C1R	715	broad.mit.edu	37	12	7188444	7188444	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188444G>T	ENST00000542285.1	-	11	1503	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M				P00736	C1R_HUMAN	complement component 1, r subcomponent	504					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGGGATACAGGGTGTGGGCA	0.597000													5	22					0.0215528	0.0221649	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35792449	35792449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35792449A>G	ENST00000440995.2	+	31	4440	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	SPEF2_ENST00000303129.4_Missense_Mutation_p.I282M|SPEF2_ENST00000356031.3_Missense_Mutation_p.I1485M|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1485					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGCATAATAGGAAATAAAG	0.343000													8	66					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135696617	135696617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135696617A>C	ENST00000264157.5	+	4	445	c.415A>C	c.(415-417)Atg>Ctg	p.M139L	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.M139L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	139					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGAAACCATAATGCTACAAAC	0.284000													9	60					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734904	12734904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734904T>C	ENST00000380682.1	+	15	2832	c.2326T>C	c.(2326-2328)Tca>Cca	p.S776P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	776					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGTCTGGGTCAAGCGATGA	0.572000													17	127					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331358	55331358	+	Silent	SNP	C	C	T	rs116306767	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55331358C>T	ENST00000391728.4	+	4	579	c.546C>T	c.(544-546)atC>atT	p.I182I	KIR3DL1_ENST00000358178.4_Silent_p.I87I|KIR3DL1_ENST00000326542.7_Silent_p.I182I|KIR3DL1_ENST00000402254.2_Silent_p.I182I|KIR3DL1_ENST00000541392.1_Silent_p.I182I|KIR3DL1_ENST00000538269.1_Silent_p.I182I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATTTCTCCATCGGTCCCATGA	0.537000													72	191					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22152906	22152906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22152906C>T	ENST00000389398.5	+	24	2483	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	796						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCTGCGGCCCAGCCA	0.488000													3	10					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1093734	1093734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1093734G>A	ENST00000264930.5	-	3	299	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	86					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCTTGTTGAGCAGCGAGGAC	0.687000													7	17					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850092	20850092	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20850092G>A	ENST00000262715.5	-	30	4444	c.4404C>T	c.(4402-4404)tgC>tgT	p.C1468C	TEP1_ENST00000556935.1_Silent_p.C1360C|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT.		C -> Y (in dbSNP:rs1713456).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.C1468C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTGGACGAGGCAGGCAAACG	0.607000													39	43					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745251	46745251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46745251G>A	ENST00000343304.6	-	8	2341	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCTGGGCGCTTCTCAAAC	0.557000													49	99					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022760	6022760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022760G>T	ENST00000378858.4	-	5	1355	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	377						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGTTGAAGCAAGGTGGGT	0.677000													20	38					8.04996e-18	1.04647e-17	1	1	0
BPTF	2186	broad.mit.edu	37	17	65850685	65850685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65850685G>A	ENST00000321892.4	+	2	1304	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	BPTF_ENST00000335221.5_Missense_Mutation_p.E415K|BPTF_ENST00000306378.6_Missense_Mutation_p.E415K|BPTF_ENST00000424123.3_Missense_Mutation_p.E276K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	415					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACCATTTGGAATGTGTGAA	0.488000													49	93					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8159439	8159439	+	Silent	SNP	C	C	T	rs147423270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8159439C>T	ENST00000600128.1	-	47	6210	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	FBN3_ENST00000270509.2_Silent_p.E1932E|FBN3_ENST00000601739.1_Silent_p.E1932E			Q75N90	FBN3_HUMAN	fibrillin 3	1932	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGAGGCACTCATTGGTGT	0.592000													6	23					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87943143	87943143	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87943143G>A	ENST00000369577.3	+	5	682	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF292_ENST00000339907.4_Silent_p.K208K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTAGCAAAGCTGTGTTCTG	0.358000													35	58					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118634612	118634612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634612G>A	ENST00000336338.5	-	9	1252	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	396						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCTGGTACAGCAGGTTGTGG	0.463000													13	236					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168314887	168314887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168314887G>T	ENST00000366806.2	+	16	2219	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S	MLLT4_ENST00000400822.3_Missense_Mutation_p.A692S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A677S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A693S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A700S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A693S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A693S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	693	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTCTGGATGGCAAATGCATC	0.388000			T	MLL	AL								5	60					0.014758	0.0152625	1	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43808547	43808547	+	Silent	SNP	G	G	A	rs142784113		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43808547G>A	ENST00000291532.3	-	5	1366	c.411C>T	c.(409-411)taC>taT	p.Y137Y	TMPRSS3_ENST00000398397.3_Silent_p.Y137Y|TMPRSS3_ENST00000380399.1_Silent_p.Y221Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.Y137Y|TMPRSS3_ENST00000398405.1_Silent_p.Y135Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	137	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAACATTTGCGTAGTGACCCT	0.512000													47	81					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2921602	2921602	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2921602G>A	ENST00000261596.4	-	18	2609	c.2371C>T	c.(2371-2373)Cta>Tta	p.L791L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	791	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATATCATTTAGACACTCAATT	0.403000													4	71					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84865120	84865120	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865120A>C	ENST00000403245.3	-	22	3005	c.2891T>G	c.(2890-2892)tTt>tGt	p.F964C	KIAA1009_ENST00000257766.4_Missense_Mutation_p.F888C|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	964					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTCTCCATAAATTCCACTGT	0.388000													5	61					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672460	99672460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672460G>A	ENST00000336292.6	+	5	4012	c.3892G>A	c.(3892-3894)Gaa>Aaa	p.E1298K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1299	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGTACACATGGAAGGGTTGCC	0.532000													49	91					0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602000										HNSCC(67;0.2)			20	26					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510432	167510432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167510432C>T	ENST00000295777.5	+	4	967	c.536C>T	c.(535-537)gCc>gTc	p.A179V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.A179V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	179					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACTTATCTGGCCCTCATTAAT	0.368000													36	52					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38796365	38796365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38796365G>A	ENST00000449105.2	-	10	1665	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G	HNRNPLL_ENST00000409328.1_Silent_p.G408G|HNRNPLL_ENST00000409636.1_Silent_p.G437G|HNRNPLL_ENST00000378915.3_Silent_p.G408G	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		TAGATGCTTGGCCAGCACTTG	0.403000													35	44					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54021567	54021567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54021567T>C	ENST00000185150.4	+	2	379	c.248T>C	c.(247-249)cTt>cCt	p.L83P	ERLEC1_ENST00000405123.3_Missense_Mutation_p.L83P|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L83P|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	83					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATACTTCCCCTTGTGACAAGT	0.294000													17	12					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322860	45322860	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45322860C>A	ENST00000391955.1	+	13	1684	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	BCAM_ENST00000270233.6_Missense_Mutation_p.A547D			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	547					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACCTCCCAGGCTGGAGTGGCC	0.687000													13	22					0.00185496	0.00197886	1	1	0
LRP6	4040	broad.mit.edu	37	12	12312848	12312848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12312848G>A	ENST00000261349.4	-	11	2406	c.2330C>T	c.(2329-2331)gCa>gTa	p.A777V	LRP6_ENST00000543091.1_Missense_Mutation_p.A777V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	777	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCATCCATTGCAGCTCTGTC	0.368000													12	94					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40141613	40141613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141613C>A	ENST00000373233.3	-	5	901	c.724G>T	c.(724-726)Gta>Tta	p.V242L	CHD6_ENST00000373222.3_Missense_Mutation_p.V277L|CHD6_ENST00000309279.7_Missense_Mutation_p.V242L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	242					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCGCTTTACTTGCCTTCCC	0.478000													28	289					4.34311e-12	5.44287e-12	1	1	0
USH2A	7399	broad.mit.edu	37	1	216061838	216061838	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216061838G>A	ENST00000366943.2	-	41	8539	c.8153C>T	c.(8152-8154)aCc>aTc	p.T2718I	USH2A_ENST00000307340.3_Missense_Mutation_p.T2718I|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2718	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTCTTGTGGTAACTTCTAC	0.507000										HNSCC(13;0.011)			17	23					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1710039	1710039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1710039G>A	ENST00000397412.3	+	11	2487	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	CRAMP1L_ENST00000262317.4_Silent_p.P174P|CRAMP1L_ENST00000293925.5_Silent_p.P796P|CRAMP1L_ENST00000436138.3_Silent_p.P793P|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	796						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGACCTTCCCGCCCAGCTCTG	0.682000													7	5					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398059	23398059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398059G>A	ENST00000379361.4	+	2	1563	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	235					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGCTTCTGCGACACTGTCAG	0.512000													101	160					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3095607	3095607	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3095607C>T	ENST00000397461.1	+	23	3312	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	CNTN4_ENST00000427331.1_Silent_p.S976S|CNTN4_ENST00000358480.3_Silent_p.S757S|CNTN4_ENST00000418658.1_Silent_p.S976S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.S648S|CNTN4_ENST00000448906.2_Silent_p.S648S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	976	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCCATTCAGCGACGGAGGAG	0.388000													18	35					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896851	896851	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896851A>T	ENST00000381922.3	-	1	109	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.S3T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	3					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTAGCTGGGAGAGCATCTGA	0.607000													6	31					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110456215	110456215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110456215C>T	ENST00000261739.4	+	5	632	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAAACTGCGCGTCGATAT	0.438000													22	33					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822309	171822309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822309C>A	ENST00000234160.4	+	10	1843	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.P355H	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	343	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTCTGCCACCTCTTCCTTCC	0.498000													4	48					5.9392e-07	6.91975e-07	1	1	0
THAP5	168451	broad.mit.edu	37	7	108205181	108205181	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:108205181A>G	ENST00000415914.3	-	3	795	c.642T>C	c.(640-642)agT>agC	p.S214S	THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Silent_p.S172S|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	214					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTGATGAATACTTTCTGAAT	0.328000													43	35					0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36339592	36339592	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36339592A>G	ENST00000216807.7	+	10	1080	c.881A>G	c.(880-882)gAt>gGt	p.D294G	BRMS1L_ENST00000543183.1_Missense_Mutation_p.D246G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	294					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATTAACCATGATGAAGTTTGG	0.279000													13	107					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043273	47043273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47043273G>A	ENST00000450053.3	+	30	4918	c.4739G>A	c.(4738-4740)gGc>gAc	p.G1580D	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.G1396D	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1580							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCAGATTGGCCTACGGCTT	0.607000													45	51					0	0	1	0	0
PCDHGB6	0	broad.mit.edu	37	5	140788094	140788094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788094G>A	ENST00000520790.1	+	1	325	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGAAGCTGTGGTGGAAAA	0.403000													41	67					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39502798	39502798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39502798C>A	ENST00000007735.3	-	6	1043	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	333	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTCTGCCGCTCCAGGTCAC	0.632000													21	35					4.26978e-12	5.35206e-12	1	1	0
FANCM	57697	broad.mit.edu	37	14	45633578	45633578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45633578G>A	ENST00000267430.5	+	10	1683	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	FANCM_ENST00000556036.1_Missense_Mutation_p.R533H|FANCM_ENST00000542564.2_Missense_Mutation_p.R507H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACAGTTTCGTGACGGTGGT	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	33					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216419934	216419934	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216419934A>G	ENST00000366943.2	-	13	3188	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	USH2A_ENST00000366942.3_Silent_p.C934C|USH2A_ENST00000307340.3_Silent_p.C934C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	934	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGGTTGACACTGATTAC	0.433000										HNSCC(13;0.011)			38	40					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16612323	16612323	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16612323C>T	ENST00000221671.3	+	2	876	c.720C>T	c.(718-720)agC>agT	p.S240S	C19orf44_ENST00000594035.1_Silent_p.S240S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	240										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCTTCAGCAGCGCTAACGTCA	0.318000													17	49					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796420	69796420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69796420T>C	ENST00000251566.4	-	5	1178	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.Y94C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	383						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCATGGTAAATAGCTTC	0.398000													11	51					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	232					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393000													14	207					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31239394	31239394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31239394C>T	ENST00000435680.1	-	14	1584	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	MTMR10_ENST00000563714.1_Missense_Mutation_p.R414Q|MTMR10_ENST00000314404.8_Missense_Mutation_p.R248Q|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	496	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAGATCCGGGTGCTGTC	0.502000													39	56					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520200	6520200	+	Missense_Mutation	SNP	G	G	T	rs141783157	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6520200G>T	ENST00000377828.1	+	13	2727	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	ESPN_ENST00000461727.1_Missense_Mutation_p.K287N|ESPN_ENST00000416731.1_Missense_Mutation_p.K287N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	853					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACATCGCTAAGTACTAGAGGC	0.662000													4	31					0.184627	0.186383	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136582540	136582540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136582540C>A	ENST00000531224.1	-	12	2872	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	BCLAF1_ENST00000392348.2_Missense_Mutation_p.G823W|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G92W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G823W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G701W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G872W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G825W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	874					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAAAGCGCCCTCTGCCACGT	0.423000													57	254					9.72345e-25	1.29067e-24	1	1	0
CEP63	80254	broad.mit.edu	37	3	134278117	134278117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134278117G>A	ENST00000337090.3	+	14	1972	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S600N|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.S600N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	600					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCCCCTGAGTCCTCAAATC	0.453000													79	102					0	0	1	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133761112	133761112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133761112G>A	ENST00000422256.2	+	5	703	c.218G>A	c.(217-219)aGt>aAt	p.S73N	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	300					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTAAAATTCAGTCATAGTGGG	0.463000													4	46					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97009208	97009208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97009208G>A	ENST00000216277.8	+	14	1487	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A423T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	423					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCATTTCCAGCACCCAAAGA	0.383000													33	82					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953912	195953912	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195953912G>T	ENST00000296327.5	+	3	419	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TCTTCCTGGAGGATGCCGTCT	0.627000													23	58					7.87624e-14	1.00187e-13	1	1	0
ELMSAN1	91748	broad.mit.edu	37	14	74189447	74189447	+	Missense_Mutation	SNP	G	G	A	rs148804472	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74189447G>A	ENST00000286523.5	-	10	3460	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T893M	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CTCATCGCTCGTATCCACATC	0.542000													89	130					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4033559	4033559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4033559G>A	ENST00000262971.2	+	9	1238	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	375					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTACGACCAGCTCAT	0.677000													4	4					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35507461	35507461	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35507461A>G	ENST00000217320.3	+	3	251	c.207A>G	c.(205-207)ccA>ccG	p.P69P	TLDC2_ENST00000602922.1_Silent_p.P69P	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		TTCACTTCCCACCAAGAGTCA	0.627000													4	77					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921206	35921206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921206C>T	ENST00000397367.2	-	2	143	c.17G>A	c.(16-18)cGc>cAc	p.R6H	CAPSL_ENST00000397366.1_Missense_Mutation_p.R6H|CAPSL_ENST00000514524.1_Missense_Mutation_p.R6H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGGTCATGGCGCGCTGTCCC	0.612000													10	18					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585028	1585028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1585028C>T	ENST00000381297.4	-	2	634	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A142S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682000			T	CRLF2	"""B-ALL, Downs associated ALL"""								8	8					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312884	153312884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153312884C>A	ENST00000368739.3	-	7	1143	c.785G>T	c.(784-786)aGg>aTg	p.R262M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R266M			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	266					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTTGAGCCTGTCTATGTA	0.517000													24	48					4.7796e-09	5.77107e-09	1	1	0
GART	2618	broad.mit.edu	37	21	34911618	34911618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34911618C>T	ENST00000381831.3	-	2	267	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GART_ENST00000381815.4_Missense_Mutation_p.A2T|GART_ENST00000381839.3_Missense_Mutation_p.A2T|GART_ENST00000361093.5_Missense_Mutation_p.A2T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	2					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACTCGGGCTGCCATTGTTCTG	0.443000													4	59					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113699134	113699134	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113699134C>T	ENST00000397021.1	+	1	159	c.96C>T	c.(94-96)agC>agT	p.S32S	MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000423482.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCGTAGCCATGCCACCA	0.557000													10	28					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51875340	51875340	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51875340T>C	ENST00000371733.3	-	14	1238	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	EPS15_ENST00000371730.2_Missense_Mutation_p.N381S|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.N58S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	381					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGATTAGTATTCTCCCTTTG	0.398000			T	MLL	ALL								6	60					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418033	4418033	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4418033T>C	ENST00000301280.5	+	4	1078	c.977T>C	c.(976-978)gTc>gCc	p.V326A		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	326	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAATTCGTCAAAGGCTCT	0.348000								Chromatin Structure					4	65					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291971	6291971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6291971G>A	ENST00000525462.1	+	4	752	c.749G>A	c.(748-750)cGc>cAc	p.R250H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R250H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R166H			P32239	GASR_HUMAN	cholecystokinin B receptor	208					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTAGGGCTTCGCTTTGACGGC	0.602000													5	57					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971038	21971038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21971038C>T	ENST00000304494.5	-	2	590	c.320G>A	c.(319-321)cGc>cAc	p.R107H	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.A162A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000530628.2_Silent_p.A121A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000579755.1_Silent_p.A121A|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R56H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	107			R -> C (in CMM2).|R -> H.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGCATCGCGCACGTCCAG	0.746000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	10					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524044	43524044	+	Missense_Mutation	SNP	G	G	A	rs142481877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524044G>A	ENST00000400427.1	+	9	1546	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	UMODL1_ENST00000408989.2_Missense_Mutation_p.V456M|UMODL1_ENST00000400424.1_Missense_Mutation_p.V384M|C21orf128_ENST00000329015.2_Silent_p.H63H|UMODL1_ENST00000408910.2_Missense_Mutation_p.V456M	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	456	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCAGATCGTGTCTCTCCA	0.592000													40	82					0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125503111C>T	ENST00000534070.1	+	6	733	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358000								Other conserved DNA damage response genes					50	56					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380071	107380071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107380071T>G	ENST00000259362.1	-	1	414	c.415A>C	c.(415-417)Aat>Cat	p.N139H		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACATAGGCATTCTTGCTCATG	0.488000													37	49					0	0	1	0	0
THTPA	0	broad.mit.edu	37	14	24026141	24026141	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026141G>T	ENST00000288014.6	+	1	911	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	THTPA_ENST00000404535.3_Missense_Mutation_p.D59Y|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554970.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554789.1_Missense_Mutation_p.D59Y			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	59					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ACGACGAGAGGATAGTGGATG	0.582000													5	18					5.9392e-07	6.91975e-07	1	1	0
SLC25A25	114789	broad.mit.edu	37	9	130868649	130868649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130868649G>T	ENST00000373066.5	+	9	1427	c.1020G>T	c.(1018-1020)atG>atT	p.M340I	SLC25A25_ENST00000373068.2_Missense_Mutation_p.M342I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.M328I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.M205I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.M354I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.M308I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	308					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGACCCGGATGGCGCTGCGGA	0.657000													6	44					8.12818e-05	8.99451e-05	1	1	0
F10	2159	broad.mit.edu	37	13	113803537	113803537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113803537G>A	ENST00000375559.3	+	8	1211	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	391	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCAAGCTGTCCAGCA	0.647000													19	24					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14713083	14713083	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14713083C>A	ENST00000284268.6	-	11	1596		c.e11-1		ANKH_ENST00000535119.1_Splice_Site	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGTGCACCCTGCAGATGAG	0.577000													7	6					1	1	1	1	0
FBN2	2201	broad.mit.edu	37	5	127744372	127744372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127744372C>T	ENST00000508053.1	-	14	2047	c.1073G>A	c.(1072-1074)tGc>tAc	p.C358Y	FBN2_ENST00000508989.1_Missense_Mutation_p.C325Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C358Y			P35556	FBN2_HUMAN	fibrillin 2	358	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCGATGCATCGAGAGCC	0.418000													24	32					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863210	154863210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863210G>A	ENST00000287907.2	+	1	1177	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCTTCCTACGCCGTGTTCTC	0.612000													9	26					0	0	1	0	0
DOM3Z	0	broad.mit.edu	37	6	31938696	31938696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938696C>T	ENST00000375349.3	-	3	996	c.585G>A	c.(583-585)atG>atA	p.M195I	DOM3Z_ENST00000337523.5_Missense_Mutation_p.M195I|DOM3Z_ENST00000375356.3_Missense_Mutation_p.M195I|DOM3Z_ENST00000478221.1_5'UTR			O77932	DOM3Z_HUMAN		195							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CACCTGCACACATGTACTGCT	0.587000													8	87					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818459	26818459	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26818459T>C	ENST00000444914.3	+	5	1146	c.726T>C	c.(724-726)aaT>aaC	p.N242N	SLC13A2_ENST00000314669.5_Silent_p.N193N|SLC13A2_ENST00000545060.1_Silent_p.N150N|SLC13A2_ENST00000537681.1_Silent_p.N122N	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	193						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCCAGATAATGGGCAGGCCC	0.642000													18	26					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102345968	102345968	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102345968G>A	ENST00000328882.4	+	1	67	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTGTTCCTGGGACTCTCTGA	0.483000													28	69					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47570386	47570386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47570386G>A	ENST00000397748.1	-	6	733	c.690C>T	c.(688-690)aaC>aaT	p.N230N	FTCD_ENST00000397743.1_Silent_p.N230N|FTCD_ENST00000359679.2_Silent_p.N230N|FTCD_ENST00000355384.2_Silent_p.N230N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.N230N|FTCD_ENST00000397746.3_Silent_p.N230N			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	230	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGAGCCAGGTTCTTCTCAT	0.577000													48	51					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112667652	112667652	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667652T>C	ENST00000550722.1	-	41	6326	c.5931A>G	c.(5929-5931)caA>caG	p.Q1977Q	HECTD4_ENST00000430131.2_Silent_p.Q1701Q|HECTD4_ENST00000377560.5_Silent_p.Q1951Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATTTCCCCAATTGTGGAATGT	0.468000													4	33					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142037526	142037526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142037526C>T	ENST00000264951.4	-	39	4643	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D	XRN1_ENST00000392981.2_Missense_Mutation_p.G1510D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAATTCATGCCTAAGGAGCC	0.393000													7	14					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302093	6302093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6302093G>A	ENST00000344683.5	+	8	926	c.850G>A	c.(850-852)Gat>Aat	p.D284N	MCPH1_ENST00000522905.1_Missense_Mutation_p.D236N|MCPH1_ENST00000519480.1_Missense_Mutation_p.D284N	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	284						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CACTCACCTCGATAAATCAAG	0.338000													8	52					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54640973	54640973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54640973G>A	ENST00000230640.5	+	10	1311	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A252T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	353					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCTTCGAGATGCAGGTGATTT	0.353000													15	22					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46684453	46684453	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46684453G>A	ENST00000381031.3	+	11	1126	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	TTC38_ENST00000445282.2_Silent_p.Q292Q	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	350							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACCACACAGGAGCTGCTGA	0.662000													26	43					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632419	3632419	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3632419G>T	ENST00000294008.3	-	15	6069	c.5429C>A	c.(5428-5430)aCt>aAt	p.T1810N	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1810	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGGCGGCAGTGGTGAAGGT	0.667000								Direct reversal of damage					10	133					4.68919e-08	5.58064e-08	1	1	0
MCM4	4173	broad.mit.edu	37	8	48885589	48885589	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48885589C>T	ENST00000262105.2	+	13	2310	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	MCM4_ENST00000523944.1_Missense_Mutation_p.R701W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	701					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCATGCCGCGGCTAAGTGA	0.552000													12	13					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327756	152327756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152327756G>A	ENST00000388718.5	-	3	2578	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	836	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGCTGTCCAAAG	0.512000													142	184					0	0	1	0	0
CNIH4	29097	broad.mit.edu	37	1	224553644	224553644	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224553644T>C	ENST00000465271.1	+	3	277	c.202T>C	c.(202-204)Tgg>Cgg	p.W68R	CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366858.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366857.5_Missense_Mutation_p.W68R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	68					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTCATTGCACTGGTTCATCTT	0.368000													5	149					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734049	31734049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734049C>T	ENST00000375686.3	-	15	2534	c.2297G>A	c.(2296-2298)aGc>aAc	p.S766N	VWA7_ENST00000375688.4_Missense_Mutation_p.S766N	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	766						extracellular region											GAGGGAGAAGCTGGGGTTGAC	0.612000													7	12					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080122	5080122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080122C>T	ENST00000321522.2	-	1	735	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTACACACACATGTGAACCA	0.463000													5	35					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095935	51095935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095935T>C	ENST00000395542.2	-	12	3288	c.3104A>G	c.(3103-3105)gAg>gGg	p.E1035G	COBL_ENST00000265136.7_Missense_Mutation_p.E953G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	953										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCAATGACCTCCCCCCTAGG	0.567000													11	50					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186509558	186509558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186509558C>A	ENST00000392481.2	-	8	1038	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	RFC4_ENST00000296273.2_Missense_Mutation_p.G253C|RFC4_ENST00000433496.1_Missense_Mutation_p.G253C	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	253					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCCTTTCCACCTGTTAATCGA	0.378000													25	76					3.01185e-09	3.6461e-09	1	1	0
INHBE	83729	broad.mit.edu	37	12	57849882	57849882	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849882A>G	ENST00000266646.2	+	2	520	c.304A>G	c.(304-306)Act>Gct	p.T102A	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	102					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGCAGACTCCACTTCAGCCTA	0.582000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	98	160					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35672549	35672549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672549G>A	ENST00000373664.3	-	13	1776	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RBL1_ENST00000344359.3_Silent_p.H570H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	570	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGCAGAATCGTGACTCCATG	0.458000													25	30					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40500461	40500461	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40500461C>A	ENST00000264657.5	-	2	386	c.74G>T	c.(73-75)aGc>aTc	p.S25I	STAT3_ENST00000404395.3_Missense_Mutation_p.S25I|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000585517.1_Missense_Mutation_p.S25I|STAT3_ENST00000588969.1_Missense_Mutation_p.S25I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	25					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498000									Hyperimmunoglobulin E Recurrent Infection Syndrome				6	77					0.0215528	0.0221649	1	1	0
CNOT8	9337	broad.mit.edu	37	5	154250340	154250340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250340G>A	ENST00000517876.1	+	5	907	c.431G>A	c.(430-432)gGa>gAa	p.G144E	CNOT8_ENST00000520671.1_Missense_Mutation_p.G38E|CNOT8_ENST00000403027.2_Missense_Mutation_p.G144E|CNOT8_ENST00000521450.1_Missense_Mutation_p.G38E|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.G144E|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.G38E|CNOT8_ENST00000523698.1_Missense_Mutation_p.G38E			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	144					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGACATCAGGAGTGGTTCTC	0.443000													55	92					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152977162	152977162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152977162C>A	ENST00000263904.4	-	14	1853	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	502					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCGGAAAGCCTGCCAGTTGA	0.448000													34	51					1.90571e-15	2.44502e-15	1	1	0
MUC17	140453	broad.mit.edu	37	7	100678180	100678180	+	Silent	SNP	G	G	A	rs138884548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100678180G>A	ENST00000306151.4	+	3	3547	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1161	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAACCACTCCGTTAGCAAGTA	0.517000													239	175					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71869245	71869245	+	Silent	SNP	C	C	T	rs147675640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71869245C>T	ENST00000377245.4	+	23	3736	c.3528C>T	c.(3526-3528)cgC>cgT	p.R1176R	TJP2_ENST00000453658.2_Silent_p.R1006R|TJP2_ENST00000539225.1_Silent_p.R1207R|TJP2_ENST00000535702.1_Silent_p.R1143R|TJP2_ENST00000348208.4_Silent_p.R1029R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACTCCAAGCGCGGTTACTATG	0.552000													6	71					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152200	45152200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45152200G>A	ENST00000296129.1	-	4	923	c.789C>T	c.(787-789)agC>agT	p.S263S	CDCP1_ENST00000425231.2_Silent_p.S263S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	263						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGAAGGAGACGCTGGCCCGCA	0.572000													47	86					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86124439	86124439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86124439G>A	ENST00000418930.2	+	7	1124	c.928_splice	c.e7+1	p.V310_splice	E2F5_ENST00000521429.1_Splice_Site_p.V138_splice|E2F5_ENST00000416274.2_Splice_Site_p.V311_splice|E2F5_ENST00000256117.5_Splice_Site_p.V312_splice|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Splice_Site_p.V150_splice			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	311	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCTTCTGACGGTAAGTAGGT	0.294000													3	31					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153596036	153596036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153596036C>A	ENST00000422373.1	-	4	941	c.693G>T	c.(691-693)caG>caT	p.Q231H	FLNA_ENST00000344736.4_Missense_Mutation_p.Q231H|FLNA_ENST00000360319.4_Missense_Mutation_p.Q231H|FLNA_ENST00000369850.3_Missense_Mutation_p.Q231H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	231	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTCATCCGCCTGCTGCATGG	0.667000													44	72					6.03219e-31	8.08675e-31	1	1	0
CCL5	6352	broad.mit.edu	37	17	34199458	34199458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34199458G>A	ENST00000293272.3	-	3	401	c.199C>T	c.(199-201)Cga>Tga	p.R67*	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Nonsense_Mutation_p.R67*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	67					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CGGTTCTTTCGGGTGACAAAG	0.507000													9	66					0	0	1	0	0
RSU1P2	0	broad.mit.edu	37	10	45602492	45602492	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45602492T>C	ENST00000423875.1	-	0	944																											TGGCAGGATTTCAAAACCGTT	0.418000													3	26					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955336	21955336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21955336G>A	ENST00000289921.7	+	5	557	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	171										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGAGCTGCTCGCCTACATCCT	0.617000													9	16					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535349	16535349	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535349C>A	ENST00000270747.3	-	2	337	c.201G>T	c.(199-201)ctG>ctT	p.L67L	ARHGEF19_ENST00000421561.1_Silent_p.L67L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	67					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGTCCCCAGGGACCAGC	0.662000													5	21					0.217242	0.218821	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203819731	203819731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819731C>T	ENST00000545588.1	+	15	5855	c.2028C>T	c.(2026-2028)caC>caT	p.H676H	ZC3H11A_ENST00000332127.4_Silent_p.H676H|ZC3H11A_ENST00000367214.1_Silent_p.H676H|ZC3H11A_ENST00000367210.1_Silent_p.H676H|ZC3H11A_ENST00000367212.3_Silent_p.H676H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	676							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGAGATGCACGCTGCTGTCA	0.502000													28	56					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570292	53570292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53570292C>T	ENST00000025008.5	-	15	2620	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.T699T|RB1CC1_ENST00000539297.1_Silent_p.T699T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAAATCAAACGTATGTGCAT	0.398000													6	97					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844865	3844865	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844865C>T	ENST00000309890.7	-	13	1779	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	ATP2A3_ENST00000397043.3_Silent_p.E543E|ATP2A3_ENST00000359983.3_Silent_p.E543E|ATP2A3_ENST00000397035.3_Silent_p.E543E|ATP2A3_ENST00000397041.3_Silent_p.E543E|ATP2A3_ENST00000352011.3_Silent_p.E543E|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	543					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGATCTGCTCCCTGGAGG	0.682000													26	38					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088109	32088109	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32088109T>G	ENST00000438447.1	+	20	4943	c.4555T>G	c.(4555-4557)Ttt>Gtt	p.F1519V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F1519V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1519					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAAAACTTTCTGAGCAA	0.498000													4	45					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969007	106969007	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969007C>A	ENST00000369066.3	+	2	3187	c.2700C>A	c.(2698-2700)tcC>tcA	p.S900S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	900							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCGACAACTCCTTAAAGGTCT	0.463000													6	113					0.0293803	0.0301098	1	1	0
TMEM53	79639	broad.mit.edu	37	1	45120599	45120599	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45120599G>A	ENST00000372237.3	-	3	629	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R126W	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	156						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCAGGGCCCGCAGAGCCCCT	0.677000													8	10					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737379	13737379	+	Missense_Mutation	SNP	G	G	A	rs140948493	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13737379G>A	ENST00000265104.4	-	66	11541	c.11437C>T	c.(11437-11439)Cgg>Tgg	p.R3813W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3813					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTCCCGGGCTGAGTTA	0.423000									Kartagener syndrome				56	79					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197727	67197727	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67197727G>T	ENST00000269081.4	-	11	1998	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_ENST00000416101.2_Silent_p.I363I|ABCA10_ENST00000432313.2_Silent_p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	363					transport	integral to membrane	ATP binding|ATPase activity	p.I363I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338000													26	56					7.92952e-12	9.92272e-12	1	1	0
POFUT1	23509	broad.mit.edu	37	20	30822373	30822373	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30822373C>A	ENST00000375749.3	+	7	1138	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N	POFUT1_ENST00000539210.1_Missense_Mutation_p.T148N	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	359					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCCTTCACTGCCTTTGTG	0.607000													14	102					4.7546e-09	5.74312e-09	1	1	0
EPHB4	2050	broad.mit.edu	37	7	100410454	100410454	+	Missense_Mutation	SNP	C	C	T	rs55692440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100410454C>T	ENST00000358173.3	-	12	2501	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	EPHB4_ENST00000360620.3_Missense_Mutation_p.R678H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	678	Protein kinase.		R -> H (in dbSNP:rs55692440).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCTCCAGGCGGATGATATT	0.612000													31	72					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197584	24197584	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197584G>T	ENST00000379177.1	+	6	770	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.D115Y|ZFX_ENST00000379188.3_Missense_Mutation_p.D115Y|ZFX_ENST00000540034.1_Missense_Mutation_p.D154Y|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D115Y	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGTCCCAGATGATGTTTT	0.443000													8	304					5.68852e-11	7.05143e-11	1	1	0
ZNF189	7743	broad.mit.edu	37	9	104171082	104171082	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104171082T>A	ENST00000374861.3	+	3	1274	c.990T>A	c.(988-990)ttT>ttA	p.F330L	ZNF189_ENST00000339664.2_Missense_Mutation_p.F344L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F302L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	344					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAGCCTTTTCTTTGTATTG	0.418000													10	82					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582000													51	81					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1464847	1464847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1464847C>T	ENST00000308219.9	+	8	1148	c.762C>T	c.(760-762)gaC>gaT	p.D254D	BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000531197.1_Silent_p.D254D|BRSK2_ENST00000526678.1_Silent_p.D254D|BRSK2_ENST00000528841.1_Silent_p.D254D|BRSK2_ENST00000528710.1_Silent_p.D194D|BRSK2_ENST00000382179.1_Silent_p.D300D|BRSK2_ENST00000308230.5_Silent_p.D254D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	254	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCGAGGTGGACGCCGCACGCC	0.711000													6	9					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147242	145147242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147242C>T	ENST00000558170.2	-	10	4605	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1141K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1117K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1141K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1141	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTCTTTCTCGTGCTCCTTC	0.547000													16	121					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65733763	65733763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65733763G>A	ENST00000253247.4	+	12	1473	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	NOL11_ENST00000535137.1_Missense_Mutation_p.R271Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	453						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTATCCCCGGAACTGTCTG	0.433000													41	88					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151806759	151806759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151806759G>A	ENST00000370306.2	+	1	123	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	35						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCACTTCGAGTTCTCCTC	0.637000													10	58					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50125766	50125766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50125766C>T	ENST00000281631.5	+	22	2362	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PARP8_ENST00000505554.1_Missense_Mutation_p.P714L|PARP8_ENST00000514067.2_Missense_Mutation_p.P693L|PARP8_ENST00000505697.2_Missense_Mutation_p.P735L|PARP8_ENST00000503750.2_Missense_Mutation_p.P693L|PARP8_ENST00000514342.2_Missense_Mutation_p.P446L|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	735	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TATCTTAGTCCAATGTCAAGC	0.333000													29	55					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102528	66102528	+	Missense_Mutation	SNP	G	G	A	rs141887009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102528G>A	ENST00000311320.4	-	6	868	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RIN1_ENST00000424433.2_Missense_Mutation_p.R143C|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.R143C	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	248					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GTGGACACGCGCACTTTGAAG	0.667000													37	32					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137536863	137536863	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137536863G>T	ENST00000394886.2	-	6	617	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAAACATGAGTAGCTTCCAC	0.418000													33	43					9.17885e-22	1.20931e-21	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846233	123846233	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846233A>C	ENST00000369005.1	+	4	4558	c.4218A>C	c.(4216-4218)ccA>ccC	p.P1406P	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.P1406P|TACC2_ENST00000515273.1_Silent_p.P1406P|TACC2_ENST00000453444.2_Silent_p.P1406P|TACC2_ENST00000515603.1_Silent_p.P1406P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1406						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGCTTCCCAGACTTCAGGG	0.597000													6	49					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027072	72027072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72027072C>T	ENST00000378743.3	-	13	3015	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	886					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAAACATTCTGTTAACATT	0.299000													7	12					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19403375	19403375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19403375C>A	ENST00000375267.2	-	106	15412	c.15409G>T	c.(15409-15411)Gag>Tag	p.E5137*	UBR4_ENST00000375224.1_Nonsense_Mutation_p.E823*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.E5116*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E5109*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E5092*|UBR4_ENST00000375225.3_Nonsense_Mutation_p.E191*|UBR4_ENST00000543981.1_Nonsense_Mutation_p.E780*|UBR4_ENST00000429347.2_Nonsense_Mutation_p.E639*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5116					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCTCCCTCTGTGTTACTG	0.542000													8	76					0.00307968	0.00325696	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30959398	30959398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30959398G>A	ENST00000295055.8	-	18	1869	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.R565*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	565	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCACAGTCGCGCAAACTCC	0.537000													18	28					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911154	150911154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150911154G>A	ENST00000261800.5	-	13	9817	c.9805C>T	c.(9805-9807)Cgc>Tgc	p.R3269C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3269	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCTGTGCGAGCATCCAGG	0.652000													8	12					0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	75991505	75991505	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75991505A>G	ENST00000286639.6	+	2	400	c.142A>G	c.(142-144)Aca>Gca	p.T48A	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.T48A	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	48						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		ACAGAGGCAGACACAGAAGGC	0.547000													7	15					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953109	140953109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140953109C>T	ENST00000277549.5	+	30	4554	c.1985C>T	c.(1984-1986)aCa>aTa	p.T662I	CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1466I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1466					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACGTGGACATTTGTGGTC	0.552000													5	15					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381199	35381199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35381199C>T	ENST00000378495.3	+	18	2453	c.2231C>T	c.(2230-2232)aCa>aTa	p.T744I	UNC13B_ENST00000396787.1_Missense_Mutation_p.T756I|UNC13B_ENST00000378496.4_Missense_Mutation_p.T744I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	744					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGTATACATGTCTCCAT	0.527000													6	12					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760167	12760167	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12760167C>T	ENST00000456935.2	-	19	2383	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	MAN2B1_ENST00000221363.4_Silent_p.R780R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	781					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATGTAAATCCGGGTGTTGA	0.572000													4	10					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32875191	32875191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32875191C>T	ENST00000266087.7	+	2	673	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Nonsense_Mutation_p.Q37*|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.Q2*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	116					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTAGCATGCAGGATGAACA	0.448000													15	78					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58856000	58856000	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58856000T>G	ENST00000472469.1	-	7	974	c.136A>C	c.(136-138)Aac>Cac	p.N46H	RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.N126H|C3orf67_ENST00000295966.7_Missense_Mutation_p.N126H|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	126										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTTTTACTGTTCCGTGTAATA	0.383000													4	51					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175717181	175717181	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717181C>A	ENST00000443967.1	+	4	1004	c.597C>A	c.(595-597)gcC>gcA	p.A199A	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.A218A|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR					SUMO-interacting motifs containing 1																		CACCACAGGCCTTGCCGTGCC	0.587000													5	13					0.184627	0.186383	1	1	0
PSG7	5676	broad.mit.edu	37	19	43439811	43439811	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43439811G>A	ENST00000446844.3	-	0	264				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448000													76	118					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57568587	57568587	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57568587C>T	ENST00000602795.1	+	12	1530	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Silent_p.D485D					negative elongation factor complex member C/D																		CCCAGCTGGACGTGATGGAGC	0.592000													15	24					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56770609	56770609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56770609T>C	ENST00000381295.2	+	19	2981	c.2633T>C	c.(2632-2634)tTc>tCc	p.F878S	EXOC1_ENST00000346134.7_Missense_Mutation_p.F878S|EXOC1_ENST00000349598.6_Missense_Mutation_p.F863S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	878					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAATGGAATTCACTATTCAG	0.398000													39	45					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260289	66260289	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260289A>C	ENST00000532677.1	+	10	1549	c.1148A>C	c.(1147-1149)gAg>gCg	p.E383A	DPP3_ENST00000541961.1_Missense_Mutation_p.E364A|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.E364A|DPP3_ENST00000360510.2_Missense_Mutation_p.E364A|DPP3_ENST00000530165.1_Missense_Mutation_p.E334A|DPP3_ENST00000531863.1_Missense_Mutation_p.E384A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	364					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAACCTTTGAGAAGGACAAG	0.592000													6	71					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704282	29704282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29704282T>C	ENST00000471961.1	+	1	1235	c.187T>C	c.(187-189)Tgc>Cgc	p.C63R	GAS2L1_ENST00000407647.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000407854.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000406549.3_Missense_Mutation_p.C63R|GAS2L1_ENST00000341313.6_Missense_Mutation_p.C63R|GAS2L1_ENST00000360113.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000403764.1_Missense_Mutation_p.C63R			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	63	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CACGACCCTGTGCCAACATGC	0.692000													5	6					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177247738	177247738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177247738G>A	ENST00000361539.4	+	7	1364	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		351						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCCGATGACCGGTTCCTGAAC	0.567000													100	133					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42652026	42652026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42652026C>A	ENST00000397163.3	+	1	242	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CAPN3_ENST00000349748.3_Missense_Mutation_p.S8Y|CAPN3_ENST00000356316.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.S8Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.S8Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	8					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTAGCGCATCTGTGGCTCCA	0.552000													10	154					0.0809354	0.0825713	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84520139	84520139	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84520139T>A	ENST00000360700.4	+	6	1680	c.794T>A	c.(793-795)gTc>gAc	p.V265D	ZNF711_ENST00000373165.3_Missense_Mutation_p.V265D|ZNF711_ENST00000276123.3_Missense_Mutation_p.V265D|ZNF711_ENST00000542798.1_Missense_Mutation_p.V61D|ZNF711_ENST00000395402.1_Missense_Mutation_p.V243D			Q9Y462	ZN711_HUMAN	zinc finger protein 711	265				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAAATTGTCACAGAGAGT	0.368000													35	53					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528948	94528948	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94528948G>T	ENST00000330836.5	-	3	869	c.738C>A	c.(736-738)gcC>gcA	p.A246A	DDX24_ENST00000544005.1_5'UTR|DDX24_ENST00000555054.1_Silent_p.A203A	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	246	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGATGGCAAAGGCAAGAGTTT	0.423000													8	66					4.68919e-08	5.58064e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179528782	179528782	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528782C>T	ENST00000589042.1	-	169	36548	c.36324G>A	c.(36322-36324)tcG>tcA	p.S12108S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10257	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCACCACCGACACTTTCT	0.378000													6	80					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1024853	1024853	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1024853G>A	ENST00000421673.2	-	24	3266	c.3216C>T	c.(3214-3216)tgC>tgT	p.C1072C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1072	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCTGTGGCAGGTGGCAA	0.672000													13	15					0	0	1	0	0
DUS2L	0	broad.mit.edu	37	16	68071995	68071995	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68071995G>A	ENST00000565263.1	+	3	563	c.69G>A	c.(67-69)ggG>ggA	p.G23G	DUS2L_ENST00000432752.1_Silent_p.G23G|DUS2L_ENST00000358896.6_Silent_p.G23G	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		23					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTCGGGTAGGGACTCTTCCAA	0.468000													31	56					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196545	55196545	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55196545T>C	ENST00000340465.2	+	2	141	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAATACACTTCCCAAACCAA	0.343000													6	51					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113530535	113530535	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113530535C>A	ENST00000505019.1	-	8	2843	c.2718_splice	c.e8+1	p.Q906_splice	C4orf21_ENST00000309071.5_Splice_Site_p.Q906_splice	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	906										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAACTTACCTGCACAGACT	0.383000													7	30					5.68852e-11	7.05143e-11	1	1	0
WDR36	134430	broad.mit.edu	37	5	110448783	110448783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110448783C>A	ENST00000506538.2	+	16	2468	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	WDR36_ENST00000513710.2_Missense_Mutation_p.P632H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	632					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTTTAGTCCTGATGGTCGT	0.274000													9	60					0.00448238	0.00472561	1	1	0
VIM	7431	broad.mit.edu	37	10	17277273	17277273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277273A>G	ENST00000544301.1	+	7	1527	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	VIM_ENST00000224237.5_Missense_Mutation_p.M372V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	372	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCAGAATATGAAGGAGGA	0.493000													17	52					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819072	17819072	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17819072G>A	ENST00000545871.1	-	3	1519	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RAI2_ENST00000331511.1_Silent_p.S353S|RAI2_ENST00000360011.1_Silent_p.S353S|RAI2_ENST00000451717.1_Silent_p.S353S|RAI2_ENST00000415486.3_Silent_p.S303S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	353					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGAGGCTCGGATTTCCGGT	0.547000													27	46					0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88598606	88598606	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88598606C>T	ENST00000319555.3	+	7	1231	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	303					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTGCCCCAGCGCCAGCTCCC	0.716000													16	18					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961658	240961658	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240961658C>G	ENST00000252711.2	-	2	275	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	NDUFA10_ENST00000404554.1_Missense_Mutation_p.V59L|NDUFA10_ENST00000407129.3_Missense_Mutation_p.V59L|NDUFA10_ENST00000307300.4_Missense_Mutation_p.V59L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	59					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACAGTTATCACTCTGCTGCGT	0.403000													30	48					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231067397	231067397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231067397C>T	ENST00000258381.6	-	9	1023	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Missense_Mutation_p.D316N|SP110_ENST00000392048.3_Missense_Mutation_p.D314N|SP110_ENST00000358662.4_Missense_Mutation_p.D316N|SP110_ENST00000540870.1_Missense_Mutation_p.D322N	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	316					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGAACCTGATCCACCCTTTTG	0.453000													41	100					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48651342	48651342	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48651342T>G	ENST00000258648.2	-	7	771	c.746A>C	c.(745-747)aAa>aCa	p.K249T	MED4_ENST00000378586.1_Missense_Mutation_p.K203T|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	249					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTCATTTTCTTTATTATGCCC	0.368000													10	60					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172482124	172482124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482124C>T	ENST00000417960.1	+	12	1506	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ECT2_ENST00000441497.2_Silent_p.N344N|ECT2_ENST00000392692.3_Silent_p.N375N|ECT2_ENST00000232458.5_Silent_p.N344N|ECT2_ENST00000540509.1_Silent_p.N375N|ECT2_ENST00000427830.1_Silent_p.N344N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	344					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACCCCTAACAGCAATCGCA	0.443000													23	30					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33653203	33653203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33653203G>A	ENST00000374316.5	+	41	6435	c.5375G>A	c.(5374-5376)cGc>cAc	p.R1792H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1792H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1792					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCACGACCGCATGAAGCGG	0.587000													6	14					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684913	100684913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684913G>A	ENST00000306151.4	+	3	10280	c.10216G>A	c.(10216-10218)Gtc>Atc	p.V3406I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTATGCCTGTCAGCACCAC	0.493000													38	370					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26818923	26818923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26818923G>A	ENST00000381340.3	-	14	1887	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	491					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAACTTCTTGTCCATTATTA	0.348000													4	49					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996282	31996282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31996282C>T	ENST00000435363.2	+	25	3287	c.3203C>T	c.(3202-3204)gCt>gTt	p.A1068V	C4B_ENST00000425700.2_Missense_Mutation_p.A1068V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1068					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCCTATGCGGCTTGGTTGTCA	0.612000													17	41					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019851	123019851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123019851T>C	ENST00000371199.3	+	2	638	c.339T>C	c.(337-339)ggT>ggC	p.G113G	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.G113G|XIAP_ENST00000355640.3_Silent_p.G113G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	113					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TCCAGAATGGTCAGTACAAAG	0.418000									X-linked Lymphoproliferative syndrome				52	75					0	0	1	0	0
TPD52L1	0	broad.mit.edu	37	6	125584090	125584090	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125584090G>A	ENST00000534000.1	+	7	893	c.597G>A	c.(595-597)gaG>gaA	p.E199E	TPD52L1_ENST00000532429.1_Silent_p.E170E|TPD52L1_ENST00000527711.1_Silent_p.E186E|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.E204E|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000392482.2_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	199					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GGACCAAGGAGGAGGAGCTGC	0.607000													7	14					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026903	6026903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6026903C>A	ENST00000265849.7	-	11	1598	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	PMS2_ENST00000441476.2_Missense_Mutation_p.S392I|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S498I|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	498					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACGGAAGTGCTGCCGTGCCC	0.627000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	102					8.12818e-05	8.99451e-05	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39227602	39227602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227602C>T	ENST00000340369.3	-	2	3563	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R1112Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTGGGATCCGGGGATCACT	0.612000													23	41					0	0	1	0	0
TRAV41	0	broad.mit.edu	37	14	22788839	22788839	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22788839G>T	ENST00000390468.1	+	0	52																											TTTGAGAACAGGTGTAAGTGC	0.403000													10	14					1.58986e-06	1.84011e-06	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27059251	27059251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27059251C>A	ENST00000324856.7	+	4	2259	c.1888C>A	c.(1888-1890)Ctg>Atg	p.L630M	ARID1A_ENST00000457599.2_Missense_Mutation_p.L630M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L247M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	630					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGATATGAACCTGAGCCTTCA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	89					0.00116845	0.00124821	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33074144	33074144	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33074144C>T	ENST00000286835.7	-	6	927	c.545G>A	c.(544-546)aGc>aAc	p.S182N	SCAF4_ENST00000399804.1_Missense_Mutation_p.S182N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S167N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	182						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCATCAGAGCTGGGCAACTG	0.473000													27	36					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409860	140409860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140409860C>T	ENST00000286349.3	+	4	2102	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	637	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATGGAATTCTATGAAGTCA	0.433000													36	64					0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58869412	58869412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58869412G>A	ENST00000360945.2	+	3	237	c.195G>A	c.(193-195)acG>acA	p.T65T	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	65					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GGGATCCAACGAAGAATAAAA	0.308000													38	77					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149543884	149543884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149543884G>A	ENST00000258484.6	+	14	2396	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	788					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAACCACGAACCAGAAAG	0.373000													5	9					0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1578393	1578393	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1578393G>A	ENST00000590550.2	-	5	1027	c.654C>T	c.(652-654)gaC>gaT	p.D218D	MBD3_ENST00000156825.1_Silent_p.D274D|MBD3_ENST00000592012.1_Silent_p.D242D|MBD3_ENST00000434436.3_Silent_p.D274D			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	274					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		cctcctcctcgtcttcctcgt	0.716000													9	18					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842384	22842384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22842384T>C	ENST00000360412.2	-	4	2115	c.1340A>G	c.(1339-1341)tAc>tGc	p.Y447C	ZNF280B_ENST00000406426.1_Missense_Mutation_p.Y447C	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGACACATGTATGGTGTTGC	0.413000													52	75					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67646313	67646313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67646313C>T	ENST00000478722.1	+	22	3219	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	GPHN_ENST00000543237.1_Missense_Mutation_p.L713F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.L636F|GPHN_ENST00000315266.5_Missense_Mutation_p.L667F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	667	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGATGTAAAACTTGATCCTCG	0.393000			T	MLL	AL								21	36					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75525889	75525889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525889G>A	ENST00000339365.2	+	12	1690	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	SEC24C_ENST00000411652.2_Missense_Mutation_p.V391I|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488000													34	71					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6173434	6173434	+	Silent	SNP	G	G	A	rs111867665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6173434G>A	ENST00000261405.5	-	12	1664	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	470	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCTGGACGTCCTGGCCAT	0.632000													20	16					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076611	93076611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076611C>T	ENST00000510627.4	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTTTCCGATTCGTCGCTCTCT	0.547000													20	34					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120181736	120181736	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120181736C>A	ENST00000450251.1	+	7	1294	c.750C>A	c.(748-750)gtC>gtA	p.V250V	USP53_ENST00000274030.6_Silent_p.V250V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	250					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTGGTTTAGTCTGGGACTCCG	0.378000													31	45					5.45727e-16	7.024e-16	1	1	0
WDR81	124997	broad.mit.edu	37	17	1631740	1631740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1631740G>A	ENST00000409644.1	+	1	3487	c.3487G>A	c.(3487-3489)Gtg>Atg	p.V1163M	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.V112M|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ggaCAGCTGCGTGGTGCTAga	0.632000													9	10					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258112	25258112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258112C>A	ENST00000328086.7	-	5	2208	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	469					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGAATCTTCTGCAGCT	0.443000													14	126					3.35478e-16	4.32329e-16	1	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202467966	202467966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202467966G>A	ENST00000439140.1	-	3	395	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ALS2CR11_ENST00000450242.1_Silent_p.C117C|ALS2CR11_ENST00000439802.1_Silent_p.C117C|ALS2CR11_ENST00000286195.3_Silent_p.C117C	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	117										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAAAATGTCTGCAGTTCTTTA	0.333000													16	31					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89816700	89816700	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89816700G>T	ENST00000310775.7	+	11	1061	c.975_splice	c.e11+1	p.Q325_splice	FANCI_ENST00000300027.8_Splice_Site_p.Q325_splice	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	325					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCAGGACCAGGTATTTTTTT	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	101					0.184627	0.186383	1	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887225	27887225	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887225G>A	ENST00000326019.6	+	1	888	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	202	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGCCTGGAGCACCCTTCGG	0.622000													12	21					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8053349	8053349	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8053349C>T	ENST00000317276.4	-	4	706	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	PER1_ENST00000581082.1_Missense_Mutation_p.G157S|PER1_ENST00000354903.5_Missense_Mutation_p.G141S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	157					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGAGCGGCCCTTGCCCCGG	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					52	102					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22327981	22327981	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22327981G>T	ENST00000299853.5	+	10	869	c.702G>T	c.(700-702)gaG>gaT	p.E234D	POLR3E_ENST00000359210.4_Missense_Mutation_p.E234D|POLR3E_ENST00000564209.1_Missense_Mutation_p.E234D|POLR3E_ENST00000418581.2_Missense_Mutation_p.E198D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	234					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCGGGGTGGAGAACACGGAGC	0.637000													4	44					1.23904e-05	1.39987e-05	1	1	0
CEPT1	10390	broad.mit.edu	37	1	111726101	111726101	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111726101A>G	ENST00000545121.1	+	8	1231	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Silent_p.K341K	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	341						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACATGACGAAAAGTGAAATGC	0.348000													24	86					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611596	90611596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90611596C>T	ENST00000268154.4	+	2	1478	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCATGTCTGCGTCGAGTGCG	0.652000													16	31					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48443753	48443753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48443753G>A	ENST00000324324.7	-	13	1502	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MYEF2_ENST00000267836.6_Missense_Mutation_p.A408V	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	408	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTAGTCATCGCACCACGGTA	0.373000													93	155					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436081	50436081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50436081C>A	ENST00000423777.2	+	3	958	c.581C>A	c.(580-582)cCt>cAt	p.P194H	ATF5_ENST00000595125.1_Missense_Mutation_p.P194H|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	194	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCACCTCAACCTTCTCGCCTG	0.657000													4	2					0.000602214	0.000649039	1	1	0
C8B	732	broad.mit.edu	37	1	57415267	57415267	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57415267G>A	ENST00000543257.1	-	7	1235	c.669C>T	c.(667-669)ggC>ggT	p.G223G	C8B_ENST00000535057.1_Silent_p.G213G|C8B_ENST00000371237.4_Silent_p.G275G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	275	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATAGTGTTTGCCTCGATCAC	0.368000													22	40					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435377	85435377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85435377G>T	ENST00000359152.5	-	1	3694	c.3695C>A	c.(3694-3696)aCc>aAc	p.T1232N	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T708N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T708N	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	393					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTTTTAATGGTCCCTATTTC	0.488000													31	51					2.65835e-16	3.4289e-16	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97822889	97822889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822889G>A	ENST00000297293.5	+	11	3405	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1038					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGAACTTGGAGTCTCCCGA	0.617000													36	28					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120930770	120930770	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120930770T>G	ENST00000422003.2	+	7	1120	c.932T>G	c.(931-933)gTt>gGt	p.V311G	TBCEL_ENST00000529397.1_Missense_Mutation_p.V311G	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	311						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATGTGGATGTTCCACAGGAA	0.398000													10	49					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486557	70486557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70486557G>T	ENST00000433351.2	+	2	206	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	PCYOX1_ENST00000264441.5_Missense_Mutation_p.D60Y|PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000505044.2_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	60					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ATTTGGGAAAGATGTGAAGAT	0.488000													8	312					1.12685e-05	1.27857e-05	1	1	0
GALNT11	63917	broad.mit.edu	37	7	151805282	151805282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151805282G>A	ENST00000434507.1	+	8	1309	c.872G>A	c.(871-873)cGc>cAc	p.R291H	GALNT11_ENST00000320311.2_Missense_Mutation_p.R291H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R210H|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.R291H			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	291						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCTGTCGTCCGCGGAGGGTTC	0.602000													5	68					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7986584	7986584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7986584C>T	ENST00000318888.4	-	17	1691	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A487T|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A539T|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A573T|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A274T|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000296372.8_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	539			K -> M (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCCCAGCTGGCATCCGGGTCT	0.617000													4	4					0	0	1	0	0
SNX6	58533	broad.mit.edu	37	14	35062309	35062309	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35062309A>C	ENST00000396526.3	-	7	808	c.312T>G	c.(310-312)taT>taG	p.Y104*	SNX6_ENST00000396534.3_Nonsense_Mutation_p.Y104*|SNX6_ENST00000355110.5_Nonsense_Mutation_p.Y108*|SNX6_ENST00000362031.4_Nonsense_Mutation_p.Y232*			Q9UNH7	SNX6_HUMAN	sorting nexin 6	220	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTCGGTTATGATACTCCAAAA	0.303000													3	35					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33255436	33255436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33255436C>T	ENST00000309558.3	-	2	691	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	92	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTACCATCTGCTAGCCAGCCA	0.542000													11	25					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377077	18377077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18377077C>T	ENST00000392413.3	-	3	1488	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	KIAA1683_ENST00000600359.2_Missense_Mutation_p.A379T|KIAA1683_ENST00000600328.2_Missense_Mutation_p.A425T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	425						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTTTGCCGTGATGGTC	0.607000													32	47					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95940258	95940258	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95940258G>A	ENST00000317620.9	+	0	58				PROM2_ENST00000317668.4_De_novo_Start_InFrame|PROM2_ENST00000403131.2_De_novo_Start_InFrame|PROM2_ENST00000542147.1_De_novo_Start_InFrame|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGACAGAGGCTGGAGAAGG	0.607000													11	14					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185643365G>A	ENST00000453386.2	-	3	495	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507000													5	48					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242353	87242353	+	Missense_Mutation	SNP	C	C	T	rs139761067	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242353C>T	ENST00000297524.3	-	1	257	c.154G>A	c.(154-156)Gtt>Att	p.V52I	SLC7A13_ENST00000419776.2_Missense_Mutation_p.V52I|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	52						integral to membrane	amino acid transmembrane transporter activity	p.V52I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCAGCCCAAACGCACAGGGAG	0.448000													4	61					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216824353C>T	ENST00000391890.3	-	5	999	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448000													40	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403356	179403356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403356G>T	ENST00000589042.1	-	354	99424	c.99200C>A	c.(99199-99201)aCt>aAt	p.T33067N	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24002N|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30499N|TTN_ENST00000359218.5_Missense_Mutation_p.T24127N|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24194N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31426N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31426							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATACTCAGTAGCTTCCAG	0.433000													60	85					1.19403e-26	1.59107e-26	1	1	0
IQSEC2	23096	broad.mit.edu	37	X	53285038	53285038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53285038G>A	ENST00000396435.3	-	3	1143	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R110C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R305C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	305					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCTTGGAGCGCTTTATCTCC	0.632000													14	17					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229745874	229745874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229745874G>A	ENST00000366675.3	-	3	314	c.226C>T	c.(226-228)Cga>Tga	p.R76*	TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R76*|TAF5L_ENST00000366676.1_Nonsense_Mutation_p.R76*|TAF5L_ENST00000477957.1_5'UTR	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	76					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCGCAGTCGTCCAAACTGT	0.443000													6	64					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91841220C>A	ENST00000370425.3	-	12	1558	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	HFM1_ENST00000370424.3_Missense_Mutation_p.R166I|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378000													107	85					7.13616e-70	9.66156e-70	1	1	0
KRT1	3848	broad.mit.edu	37	12	53074048	53074048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53074048G>A	ENST00000252244.3	-	1	143	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557000													8	60					0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27355486	27355486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27355486C>T	ENST00000260643.2	-	5	990	c.737G>A	c.(736-738)cGc>cAc	p.R246H	PREB_ENST00000406567.3_Missense_Mutation_p.R246H	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	246					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGGTAGCGGTAAGGTGT	0.587000													11	23					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86087014	86087014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86087014C>T	ENST00000394518.2	+	5	585	c.490C>T	c.(490-492)Cga>Tga	p.R164*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.R164*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTGGCCCGCGAGAGACATT	0.458000													12	24					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6921808	6921808	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6921808A>G	ENST00000312053.4	+	14	1742	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V	EMR1_ENST00000250572.8_Missense_Mutation_p.I569V|EMR1_ENST00000381407.5_Missense_Mutation_p.I428V|EMR1_ENST00000450315.3_Missense_Mutation_p.I392V|EMR1_ENST00000381404.4_Missense_Mutation_p.I517V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	569	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGCTGTGTGATCCTGGAAGC	0.468000													7	72					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16225792	16225792	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16225792G>T	ENST00000399408.2	+	28	4171	c.3996_splice	c.e28+1	p.K1332_splice	ABCC1_ENST00000345148.5_Splice_Site_p.K1322_splice|ABCC1_ENST00000349029.5_Splice_Site_p.K1207_splice|ABCC1_ENST00000399410.3_Splice_Site_p.K1322_splice|ABCC1_ENST00000351154.5_Splice_Site_p.K1263_splice|ABCC1_ENST00000346370.5_Splice_Site_p.K1266_splice			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGAGAAAAGGTGGGTACAC	0.597000													13	21					2.61681e-11	3.25769e-11	1	1	0
CTD-3074O7.2	0	broad.mit.edu	37	11	66327541	66327541	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66327541G>A	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							GGCGGGATGCGCTAGAGGTGG	0.667000													3	3					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55514742G>T	ENST00000500968.3	-	2	713	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502000													16	23					1.5739e-10	1.9432e-10	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145794589	145794589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145794589G>A	ENST00000282903.5	-	15	1834	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Q498*|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Q213*|PLOD2_ENST00000360060.3_Nonsense_Mutation_p.Q532*	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	532					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAAAAATCTGCCAGAGGTCA	0.289000													7	90					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179310	161179310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161179310C>T	ENST00000392179.4	+	5	791	c.552C>T	c.(550-552)atC>atT	p.I184I	NDUFS2_ENST00000367993.3_Silent_p.I184I|NDUFS2_ENST00000476409.2_Silent_p.I86I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	184					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGAACCACATCATGGCTGTGA	0.512000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28358723	28358723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28358723C>T	ENST00000337532.5	-	14	1458	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	MPP7_ENST00000375732.1_Silent_p.Q394Q|MPP7_ENST00000540098.1_Silent_p.Q394Q|MPP7_ENST00000445954.2_Silent_p.Q269Q|MPP7_ENST00000375719.3_Silent_p.Q394Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	394	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCATAGTGCTGGGTGTCAC	0.398000													11	20					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153000472	153000472	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153000472T>C	ENST00000263904.4	-	7	922	c.573A>G	c.(571-573)ttA>ttG	p.L191L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	191					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGATGGATATAAGGATTTTG	0.318000													17	29					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	22000714	22000714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22000714G>A	ENST00000594012.1	-	6	701	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ZNF43_ENST00000598288.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H69Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H63Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCATTTCATGTCTCCTCATA	0.428000													69	93					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61507019	61507019	+	Missense_Mutation	SNP	C	C	T	rs150967936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61507019C>T	ENST00000257215.5	+	17	1855	c.1739C>T	c.(1738-1740)aCg>aTg	p.T580M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	580					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGCCAGCACGCGGCTCTGG	0.657000													21	44					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617352	85617352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617352C>T	ENST00000315658.7	+	11	1166	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000393852.4_Missense_Mutation_p.R303W|ELMOD3_ENST00000409890.2_Missense_Mutation_p.R303W|ELMOD3_ENST00000409013.3_Missense_Mutation_p.R303W	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	303	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGGACACAGCGGAAGACCAT	0.562000													4	32					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50940757	50940757	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50940757G>T	ENST00000357701.5	+	6	542	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	164					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCTGGGCAGAGTCTAGAAAGC	0.582000													6	7					2.0095e-06	2.31757e-06	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94842325	94842325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94842325C>A	ENST00000262554.2	-	5	405	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Nonsense_Mutation_p.G134*	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	134						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCTGGGTCCACAAGTCCCC	0.358000													5	73					0.00116845	0.00124821	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28268753	28268753	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268753G>A	ENST00000405948.2	+	7	1542	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PGBD1_ENST00000259883.3_Silent_p.Q374Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	374					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAGATCCAGCCTGCTCAAA	0.433000													26	44					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528220	157528220	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528220A>G	ENST00000346085.5	+	20	5946	c.5945A>G	c.(5944-5946)cAc>cGc	p.H1982R	ARID1B_ENST00000350026.5_Missense_Mutation_p.H1969R|ARID1B_ENST00000275248.4_Missense_Mutation_p.H1964R|ARID1B_ENST00000367148.1_Missense_Mutation_p.H2022R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1969					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTCTTCTTCACCACGAGCAT	0.537000													4	103					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20929556	20929556	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20929556T>C	ENST00000380249.1	+	29	3642	c.3278T>C	c.(3277-3279)tTa>tCa	p.L1093S	FOCAD_ENST00000605086.1_Missense_Mutation_p.L529S|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1093S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1093						integral to membrane	binding										GGCCTTGCTTTAGGGATGTTT	0.428000													24	53					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953207	96953207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96953207G>A	ENST00000323853.5	-	26	3531	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1152	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGTACAGACGCTCAAAGGGG	0.512000													15	88					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175899	120175899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175899G>A	ENST00000260264.4	+	7	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	POU2F3_ENST00000543440.2_Missense_Mutation_p.R202H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	202	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AAGCAGAGGCGCATTAAGCTG	0.552000													5	76					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97367132	97367132	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97367132C>T	ENST00000514100.1	+	13	1397	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	EPHA6_ENST00000502694.1_Silent_p.D321D|EPHA6_ENST00000389672.5_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCATAGGACCTCTTCCAAA	0.343000													10	35					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23545848	23545848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545848C>A	ENST00000297071.4	-	6	895	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C	TRA2A_ENST00000538367.1_Missense_Mutation_p.G126C|TRA2A_ENST00000392502.4_Missense_Mutation_p.G126C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	227	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ccacctccacctccaccgccg	0.448000													13	33					9.31168e-06	1.06029e-05	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668654	53668654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668654C>A	ENST00000600412.1	-	2	1009	c.894G>T	c.(892-894)aaG>aaT	p.K298N	ZNF665_ENST00000396424.3_Missense_Mutation_p.K363N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCGCCGATGCTTTGCAAGGT	0.418000													9	56					3.07112e-06	3.52574e-06	1	1	0
PFKFB3	5209	broad.mit.edu	37	10	6255642	6255642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6255642G>A	ENST00000379775.4	+	2	463	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PFKFB3_ENST00000317350.4_Missense_Mutation_p.A45T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A45T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A45T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A25T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A59T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A45T|PFKFB3_ENST00000536985.1_Missense_Mutation_p.A25T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	45	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGGCCTCCCCGCCCGGGGCAA	0.597000													39	72					0	0	1	0	0
DIRAS1	0	broad.mit.edu	37	19	2717757	2717757	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2717757G>A	ENST00000323469.4	-	2	231	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DIRAS1_ENST00000585334.1_Silent_p.G16G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	16					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACGCCGCCCGCCCCGA	0.682000													12	22					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178155	36178155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178155C>T	ENST00000357641.6	+	6	2282	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	BRPF3_ENST00000534694.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.R677*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.R677*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	677					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AATTTTCCACCGAGCAGCTGT	0.572000													17	34					0	0	1	0	0
PMF1	11243	broad.mit.edu	37	1	156202117	156202117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156202117G>T	ENST00000368277.3	+	2	177	c.168G>T	c.(166-168)caG>caT	p.Q56H	PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.Q56H|PMF1_ENST00000368279.3_Missense_Mutation_p.Q56H|PMF1_ENST00000368273.4_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.Q56H|PMF1_ENST00000567140.1_Missense_Mutation_p.Q56H|PMF1_ENST00000565805.1_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.Q56H	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CCAGCTACCAGAGATTCACTG	0.537000													16	182					1.02788e-11	1.28409e-11	1	1	0
GPR101	83550	broad.mit.edu	37	X	136113612	136113612	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136113612G>A	ENST00000298110.1	-	1	221	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTGACGAGGAGGTTAA	0.617000													11	33					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70900290	70900290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70900290G>A	ENST00000340941.6	+	6	748	c.619G>A	c.(619-621)Gca>Aca	p.A207T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A207T|MCCC2_ENST00000509358.2_Missense_Mutation_p.A207T|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	207	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAAAATATTGCACAGGTAAT	0.378000													17	28					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067541	66067541	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66067541T>G	ENST00000349533.6	+	10	1486	c.1301T>G	c.(1300-1302)aTc>aGc	p.I434S	LEPR_ENST00000371058.1_Missense_Mutation_p.I434S|LEPR_ENST00000371060.3_Missense_Mutation_p.I434S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.I434S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.I434S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	434					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATCAATATCTCATGTGAA	0.294000													5	63					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32702460	32702460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32702460C>T	ENST00000421745.2	+	35	7011	c.6877C>T	c.(6877-6879)Cgt>Tgt	p.R2293C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCGTTTACGTCGGACAGC	0.338000													27	77					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48829911	48829911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48829911G>T	ENST00000316623.5	-	7	1088	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCGACTGTGGCACAGCAGA	0.577000													12	83					4.3838e-07	5.12524e-07	1	1	0
DGCR8	54487	broad.mit.edu	37	22	20079041	20079041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20079041C>T	ENST00000351989.3	+	6	1819	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	DGCR8_ENST00000407755.1_Missense_Mutation_p.R464W|DGCR8_ENST00000383024.2_Missense_Mutation_p.R464W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	464	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGGGCTGAGCGGCGGCAATT	0.488000													72	132					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176734	41176734	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41176734G>T	ENST00000263413.3	-	8	1275	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.V337V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383000													8	81					0.00448238	0.00472561	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154863181	154863181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863181A>G	ENST00000287907.2	+	1	1148	c.572A>G	c.(571-573)gAg>gGg	p.E191G	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	191						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCAGCGAGGAGTGCCAGGTA	0.607000													7	31					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785522	111785522	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785522G>T	ENST00000261726.6	+	22	4008	c.3854G>T	c.(3853-3855)aGc>aTc	p.S1285I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGAACAGCACACCCCTG	0.617000													12	14					5.50884e-06	6.28354e-06	1	1	0
SLC10A6	345274	broad.mit.edu	37	4	87752964	87752964	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87752964T>C	ENST00000273905.6	-	3	713	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	189						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATTTTGGATTGTTTTGGCCA	0.473000													9	11					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41749993	41749993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41749993C>T	ENST00000389629.4	+	4	593	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGACAGGGCCCGTCTGGAA	0.478000													12	108					0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666108	27666108	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27666108G>A	ENST00000543753.1	+	4	488	c.441G>A	c.(439-441)ccG>ccA	p.P147P	KRTCAP3_ENST00000407293.1_Silent_p.P129P|KRTCAP3_ENST00000288873.3_Silent_p.P147P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	147						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGAGGGGCCGGGACATACTG	0.542000													27	33					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038586	128038586	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128038586G>T	ENST00000338791.6	-	10	1306	c.956C>A	c.(955-957)cCt>cAt	p.P319H	IMPDH1_ENST00000354269.5_Missense_Mutation_p.P309H|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P229H|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P283H|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P209H|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P209H|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P233H|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P286H|IMPDH1_ENST00000378717.4_Missense_Mutation_p.P250H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	234					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGAGGCCAGAGGGTAGTCTCG	0.602000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	124					0.000157383	0.00017284	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73675915	73675915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73675915C>A	ENST00000264448.6	+	8	2369	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	ALMS1_ENST00000409009.1_Missense_Mutation_p.T711N|ALMS1_ENST00000377715.1_Missense_Mutation_p.T753N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGAGATACCA	0.438000													22	194					7.41877e-09	8.93215e-09	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24790356C>T	ENST00000376451.2	+	4	1192	c.932C>T	c.(931-933)aCg>aTg	p.T311M	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T628M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M			Q5T5P2	SKT_HUMAN	KIAA1217	628	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582000													23	33					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49048132	49048132	+	Missense_Mutation	SNP	G	G	T	rs74553953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49048132G>T	ENST00000380950.2	-	20	3500	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	CEP152_ENST00000399334.3_Missense_Mutation_p.L1105I|CEP152_ENST00000325747.5_Missense_Mutation_p.L1012I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1105					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTCTACAAGCAGAGGAAGT	0.368000													49	85					9.52127e-25	1.26392e-24	1	1	0
FAM58A	92002	broad.mit.edu	37	X	152861628	152861628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152861628G>A	ENST00000406277.2	-	4	226	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	44					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGACCGCATCCCTAGC	0.537000													40	42					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637000													12	31					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529477	117529477	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529477T>C	ENST00000393203.2	+	9	2675	c.2528T>C	c.(2527-2529)aTc>aCc	p.I843T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	843						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCACGGTCATCGGGCTCCTG	0.602000													7	82					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15133743	15133743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15133743G>A	ENST00000292574.3	+	7	1394	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	438					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGAGCTGCTCGCCACGCACAA	0.632000													4	8					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80197018	80197018	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80197018C>A	ENST00000392959.1	-	9	2408	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	599					protein transport	cilium axoneme|microtubule basal body	protein binding	p.E599D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358000													44	72					6.21074e-16	7.99102e-16	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4286206	4286206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4286206C>T	ENST00000381971.3	-	2	813	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCTCAGCCACGTTGTTCTGA	0.587000													12	38					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666273	30666273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666273C>A	ENST00000542965.2	+	7	1438	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	PRR14_ENST00000300835.4_Missense_Mutation_p.L328M|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	328	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAAGCCCTCTCTGGGCCGAAG	0.687000													10	32					0.0581538	0.0593651	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115166215	115166215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115166215G>A	ENST00000393274.1	-	5	1481	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	286										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAATCGTCTGTGAGTTCCGA	0.333000													6	62					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612000													9	142					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428206	10428206	+	Silent	SNP	A	A	G	rs1042185		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10428206A>G	ENST00000245503.5	-	34	5223	c.4839T>C	c.(4837-4839)agT>agC	p.S1613S	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.S1613S|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1613					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCATTCCTACTCCTGATCT	0.483000													5	125					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150048339	150048339	+	Silent	SNP	C	C	T	rs150076399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150048339C>T	ENST00000369130.3	+	4	864	c.318C>T	c.(316-318)gaC>gaT	p.D106D	VPS45_ENST00000369128.5_Silent_p.D70D|VPS45_ENST00000535106.1_Silent_p.D106D	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	106					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGAGTGACGTGAAGTCAT	0.413000													29	52					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020280	147020280	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147020280T>C	ENST00000265272.5	-	9	1855	c.1388A>G	c.(1387-1389)gAt>gGt	p.D463G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D421G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D463G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	463						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAAGTCATCATCAGGAGT	0.408000													39	66					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879388	75879388	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879388T>C	ENST00000393909.2	+	3	365		c.e3+2		MRPL19_ENST00000409374.1_Splice_Site|MRPL19_ENST00000358788.6_Splice_Site	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19						translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TCTATGTTGGTCAGTAAGAGC	0.323000													25	72					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68116985	68116985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68116985G>T	ENST00000262215.3	-	35	5278	c.4889C>A	c.(4888-4890)aCt>aAt	p.T1630N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T1084N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T468N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1630					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTCGATAGTCTGGATGAG	0.443000													6	91					0.0215528	0.0221649	1	1	0
MACF1	23499	broad.mit.edu	37	1	39763358	39763358	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763358T>C	ENST00000564288.1	+	21	3199	c.2422T>C	c.(2422-2424)Tat>Cat	p.Y808H	MACF1_ENST00000545844.1_Missense_Mutation_p.Y813H|MACF1_ENST00000567887.1_Missense_Mutation_p.Y845H|MACF1_ENST00000372915.3_Missense_Mutation_p.Y813H|MACF1_ENST00000317713.7_Missense_Mutation_p.Y813H|MACF1_ENST00000361689.2_Missense_Mutation_p.Y813H|MACF1_ENST00000539005.1_Missense_Mutation_p.Y813H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	813					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGAAAATATTCCTGTGA	0.473000													26	49					0	0	1	0	0
RP11-69E11.4	0	broad.mit.edu	37	1	40007451	40007451	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40007451C>T	ENST00000440190.1	-	0	455				RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA																							GGGGATAATGCGGTGGAAGCT	0.443000													5	5					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46476188	46476188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46476188C>T	ENST00000262158.2	-	1	893	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SMAD7_ENST00000589634.1_Missense_Mutation_p.E203K	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	203	MH1.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCACCTAGTTCGCAGAGTCGG	0.567000											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	rs115934510	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.A734V(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562000													26	47					0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5232791	5232791	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5232791C>T	ENST00000288828.4	+	2	349	c.117C>T	c.(115-117)cgC>cgT	p.R39R	WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Silent_p.R39R|WIPI2_ENST00000382384.2_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	39					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTGGCCGTCGCGCTGTTGTCT	0.388000													11	150					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573431	27573431	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27573431C>A	ENST00000544915.1	+	16	1994	c.1775C>A	c.(1774-1776)cCt>cAt	p.P592H	ARNTL2_ENST00000542388.1_Missense_Mutation_p.P541H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P626H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P578H|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P612H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P589H|RP11-165P7.1_ENST00000500498.2_RNA	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	626					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGGGAGACCCTGGGGACTTC	0.438000													5	82					3.59834e-05	4.01776e-05	1	1	0
USP19	10869	broad.mit.edu	37	3	49154763	49154763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49154763G>A	ENST00000453664.1	-	6	926	c.608C>T	c.(607-609)cCg>cTg	p.P203L	USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398896.1_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.P150L|USP19_ENST00000417901.1_Missense_Mutation_p.P213L|USP19_ENST00000398888.2_Intron|USP19_ENST00000434032.2_Missense_Mutation_p.P213L|USP19_ENST00000398898.2_Missense_Mutation_p.P150L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGCAGCCCCGGCACCAGCTC	0.612000													10	8					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560823	9560823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9560823C>T	ENST00000378429.3	-	5	1505	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PAK7_ENST00000353224.5_Missense_Mutation_p.R320H|PAK7_ENST00000378423.1_Missense_Mutation_p.R320H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCGGACAAGCGAGGGTAGGT	0.537000													9	131					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239057697	239057697	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239057697G>A	ENST00000409223.1	+	7	1496	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	KLHL30_ENST00000305959.4_Silent_p.S445S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	463										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGTCCTCGCCTCGCTGTG	0.652000													3	18					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628908	84628908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84628908C>T	ENST00000284136.6	-	17	2225	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	728					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGTACTGGTCGAGGCTGAAG	0.507000													21	69					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154071	145154071	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145154071G>A	ENST00000398712.2	-	7	1396	c.960C>T	c.(958-960)gaC>gaT	p.D320D		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	320					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGTTCCCCGTCCATCTTCT	0.677000													10	18					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95905716	95905716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95905716G>T	ENST00000323666.5	+	9	1239	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	METAP2_ENST00000546753.1_Missense_Mutation_p.R314I|METAP2_ENST00000261220.9_Missense_Mutation_p.R314I|METAP2_ENST00000551840.1_Missense_Mutation_p.R336I|METAP2_ENST00000550777.1_Missense_Mutation_p.R301I	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	337					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGGCAATATAGAATACATGCT	0.363000													10	34					3.86212e-05	4.30401e-05	1	1	0
RASA2	5922	broad.mit.edu	37	3	141327524	141327524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141327524G>A	ENST00000286364.3	+	21	2245	c.2210G>A	c.(2209-2211)tGc>tAc	p.C737Y	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.C738Y			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCGGCTGCAAGCCATGT	0.393000													18	30					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68222729	68222729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68222729G>A	ENST00000347230.4	-	36	6860	c.6722C>T	c.(6721-6723)gCc>gTc	p.A2241V	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.A87V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGTTGGCAGGCAGCAATCAA	0.453000													182	273					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215931	16215931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16215931G>A	ENST00000399408.2	+	25	3695	c.3520G>A	c.(3520-3522)Gtc>Atc	p.V1174I	ABCC1_ENST00000345148.5_Missense_Mutation_p.V1164I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1049I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1164I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1105I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1108I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1164	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGGTCAGCGTCATTCGAGC	0.602000													22	28					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27431370	27431370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27431370G>A	ENST00000326799.3	-	5	695	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	183					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308000													67	86					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158571620	158571620	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158571620C>A	ENST00000367102.2	-	4	271	c.128_splice	c.e4-1	p.G44_splice	SERAC1_ENST00000607000.1_Splice_Site_p.G44_splice|SERAC1_ENST00000367104.3_Splice_Site_p.G44_splice|SERAC1_ENST00000367101.1_Splice_Site_p.G44_splice			Q96JX3	SRAC1_HUMAN	serine active site containing 1	44					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AATAAAGAACCTCTTAAAGAG	0.308000													4	58					0.00909568	0.00947522	1	1	0
TEK	7010	broad.mit.edu	37	9	27168541	27168541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27168541A>G	ENST00000380036.4	+	3	855	c.413A>G	c.(412-414)aAc>aGc	p.N138S	TEK_ENST00000519097.1_Missense_Mutation_p.N34S|TEK_ENST00000406359.4_Missense_Mutation_p.N138S	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	138					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AAGGGAGATAACGTGAACATA	0.353000													3	42					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67369316	67369316	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67369316T>G	ENST00000396623.3	+	12	1108	c.1077T>G	c.(1075-1077)ctT>ctG	p.L359L	ADHFE1_ENST00000415254.1_Silent_p.L311L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	359					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCATGGCCTTTCTGTGGTGC	0.507000													16	149					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118319946	118319946	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118319946C>A	ENST00000369221.2	+	11	1107	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	360	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TATAAGGTATCTGTCACACTG	0.358000													4	65					0.000602214	0.000649039	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603268	13603268	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13603268T>C	ENST00000040738.5	-	10	5391	c.5256A>G	c.(5254-5256)gaA>gaG	p.E1752E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1752							DNA binding										TAACCATGCGTTCCTCCCGGG	0.507000													83	126					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101898453	101898453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101898453T>C	ENST00000295317.3	-	6	1134	c.1027A>G	c.(1027-1029)Aat>Gat	p.N343D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	343						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGACTCAAATTTGCAGCTGGA	0.488000													35	59					0	0	1	0	0
BEX4	56271	broad.mit.edu	37	X	102471115	102471115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102471115C>A	ENST00000372695.5	+	3	269	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	BEX4_ENST00000372691.3_Missense_Mutation_p.L12I	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	12						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GGCAAACAATCTCAACGGGGA	0.512000													5	46					8.12818e-05	8.99451e-05	1	1	0
CNTF	1270	broad.mit.edu	37	11	58391922	58391922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58391922G>A	ENST00000361987.4	+	2	610	c.530G>A	c.(529-531)cGt>cAt	p.R177H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CATGACCTTCGTTTCATTTCT	0.463000													47	55					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627000													10	14					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535097	110535097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110535097C>T	ENST00000378402.5	+	75	12412	c.12308C>T	c.(12307-12309)tCg>tTg	p.S4103L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4103					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAGCCTTCGGTAAAGGCA	0.458000										HNSCC(38;0.096)			4	10					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77236357	77236357	+	Missense_Mutation	SNP	C	C	T	rs145801473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77236357C>T	ENST00000167106.4	+	2	994	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	VASH1_ENST00000554237.1_Missense_Mutation_p.R121C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	121					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGTCCCTGAGCGCCTGGAAGC	0.592000													42	46					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40379676	40379676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40379676C>A	ENST00000293328.3	-	3	324	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	52					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TAATGTTCTCCTGTGGATTAT	0.473000													4	37					0.014758	0.0152625	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34079532	34079532	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34079532T>C	ENST00000254466.6	-	1	365	c.338A>G	c.(337-339)aAt>aGt	p.N113S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.N113S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	113	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTAGAGACATTGTCCCTGGC	0.597000													9	106					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71768515	71768515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71768515C>T	ENST00000299980.4	-	22	2805	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	AP1G1_ENST00000433195.2_Silent_p.Q811Q|AP1G1_ENST00000423132.2_Silent_p.Q791Q|AP1G1_ENST00000393512.3_Silent_p.Q791Q|AP1G1_ENST00000564155.1_Silent_p.Q213Q|AP1G1_ENST00000569748.1_Silent_p.Q788Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	788	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTCACCTTCTGAGGGTTCA	0.428000													145	210					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003117	69003117	+	Missense_Mutation	SNP	C	C	T	rs144874326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69003117C>T	ENST00000543950.1	+	4	719	c.365C>T	c.(364-366)aCg>aTg	p.T122M	CORO2B_ENST00000540068.1_Missense_Mutation_p.T122M|CORO2B_ENST00000261861.5_Missense_Mutation_p.T122M|CORO2B_ENST00000566799.1_Missense_Mutation_p.T127M	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	127					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGAACATGACGGAGGCGCTC	0.657000													7	12					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053694	11053694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053694C>T	ENST00000295082.1	+	1	1632	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAAGACCACGCTGGGCAAG	0.572000													10	24					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067586	46067586	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067586T>A	ENST00000295452.4	-	4	504	c.337A>T	c.(337-339)Ata>Tta	p.I113L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	113					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GCAAAAATTATATCTATTGTA	0.274000													14	7					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519647	62519647	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519647G>T	ENST00000394807.3	-	2	1765	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGGGAGCCAGGGAGAGGCTG	0.557000													4	61					1.23904e-05	1.39987e-05	1	1	0
CTNNAL1	8727	broad.mit.edu	37	9	111732743	111732743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111732743G>A	ENST00000374595.4	-	10	1458	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.T460I|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	460					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGAGGTTCTGTCCCAGATAT	0.398000													6	29					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969099	240969099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240969099C>T	ENST00000402971.2	-	1	807	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTATAGAAGACGGTGACCACG	0.577000													21	25					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606935	43606935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43606935G>A	ENST00000360835.3	-	18	2502	c.2376C>T	c.(2374-2376)caC>caT	p.H792H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	792					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTTTTGCAGTGTGTGACGT	0.637000													12	23					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336718	115336718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115336718T>C	ENST00000337530.6	+	2	654	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120R|KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGAGACTCTTGTGACTTCTC	0.473000													42	59					0	0	1	0	0
CROCCP3	0	broad.mit.edu	37	1	16810883	16810883	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16810883G>A	ENST00000263511.4	-	0	1648					NR_023386.1																						GAGAGCCCCCGCAGGCTGCCG	0.746000													3	4					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351048	44351048	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44351048C>A	ENST00000279058.3	+	1	59	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	14						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GATTCTTCATCTTCTGCTCAT	0.413000													21	54					4.26978e-12	5.35206e-12	1	1	0
UBR1	197131	broad.mit.edu	37	15	43290423	43290423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43290423G>A	ENST00000290650.4	-	33	3778	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1234					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATCCACCGTGCCAGGGTC	0.348000													11	23					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122664	31122664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31122664G>T	ENST00000394951.1	+	11	1512	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	BCKDK_ENST00000394950.3_Missense_Mutation_p.D297Y|BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Missense_Mutation_p.D297Y			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	297	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAATGTCCCAGATGTGGTCAT	0.547000													15	41					8.34094e-07	9.69005e-07	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35314060	35314060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35314060G>A	ENST00000278379.3	-	7	1147	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	SLC1A2_ENST00000606205.1_Missense_Mutation_p.P289S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000395753.1_Missense_Mutation_p.P280S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	289				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATACCCAGGGGAGAGTACCTG	0.468000													15	23					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207027218	207027218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207027218G>A	ENST00000392222.2	+	5	778	c.403G>A	c.(403-405)Gca>Aca	p.A135T	EEF1B2_ENST00000236957.5_Missense_Mutation_p.A135T|EEF1B2_ENST00000392221.1_Missense_Mutation_p.A135T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	135						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TTTAGAACCTGCACTTGTTGC	0.368000													7	155					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679883	44679883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44679883C>T	ENST00000590089.1	+	7	835	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ZNF226_ENST00000454662.2_Silent_p.P156P|ZNF226_ENST00000337433.5_Silent_p.P156P|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGATGGTCCCAATAATACTG	0.398000													9	13					0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889674	1889674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1889674T>A	ENST00000357103.4	+	5	772	c.521T>A	c.(520-522)tTt>tAt	p.F174Y		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	174					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AATATCTCCTTTGTGGCCCCT	0.418000													13	185					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998712	21998712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21998712C>A	ENST00000261200.4	-	24	2920	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	ABCC9_ENST00000261201.4_Missense_Mutation_p.R974M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R938M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	974					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTTAGTCCTGAGCCTCAT	0.443000													15	28					2.23348e-06	2.57349e-06	1	1	0
PMEL	6490	broad.mit.edu	37	12	56351341	56351341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351341C>T	ENST00000548747.1	-	6	1408	c.746G>A	c.(745-747)gGc>gAc	p.G249D	PMEL_ENST00000548493.1_Missense_Mutation_p.G249D|PMEL_ENST00000449260.2_Missense_Mutation_p.G249D|PMEL_ENST00000360714.4_Missense_Mutation_p.G249D|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.G163D|PMEL_ENST00000552882.1_Missense_Mutation_p.G249D|PMEL_ENST00000536427.1_Missense_Mutation_p.G249D|PMEL_ENST00000539511.1_Missense_Mutation_p.G163D			P40967	PMEL_HUMAN	premelanosome protein	249					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCCAGATAGCCACTGGGGTC	0.562000													10	130					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685598	100685598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100685598G>T	ENST00000306151.4	+	3	10965	c.10901G>T	c.(10900-10902)aGc>aTc	p.S3634I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3634	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGTAAGCACTCCATTA	0.488000													6	119					0.00116845	0.00124821	1	1	0
CYBB	1536	broad.mit.edu	37	X	37642787	37642787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37642787C>T	ENST00000378588.4	+	3	253	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CYBB_ENST00000545017.1_Silent_p.F30F|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	62	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCTGAATTTCAACTGCATGC	0.502000													6	48					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715553	139715553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139715553G>T	ENST00000263552.6	+	15	1798	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	TBXAS1_ENST00000416849.2_Missense_Mutation_p.E466D|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E419D|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E352D|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E419D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E465D|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E419D	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	419					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AGGACTGCGAGGTGCTGGGGC	0.647000													4	69					0.00024832	0.0002712	1	1	0
COL6A2	0	broad.mit.edu	37	21	47549205	47549205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549205C>T	ENST00000357838.4	+	28	2639	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Q853*|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.		R -> Q (in BM).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATCCAACAGTTGCTAAA	0.692000													9	125					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38562686	38562686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38562686G>A	ENST00000423485.1	-	16	2061	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	635					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACTGGATACGATGTCTTTTC	0.348000													10	19					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106092228	106092228	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106092228G>A	ENST00000390543.2	-	0	175																											GAGTCCTGAGGACTGTAGGAC	0.627000													10	45					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536215	30536215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30536215G>T	ENST00000380412.5	-	2	1421	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	ZNF768_ENST00000562803.1_Missense_Mutation_p.L385I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	416					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGGGGATAAGGGCCGACCGC	0.667000													5	36					0.184627	0.186383	1	1	0
INTU	27152	broad.mit.edu	37	4	128632127	128632127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128632127G>A	ENST00000335251.5	+	14	2532	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	810										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACAGTGCAAGGAATCTTTATT	0.383000													21	37					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089262	32089262	+	Missense_Mutation	SNP	C	C	T	rs138400638		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32089262C>T	ENST00000438447.1	+	20	6096	c.5708C>T	c.(5707-5709)gCg>gTg	p.A1903V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1903V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1903					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCCTGCTGCGAATGCTGTG	0.552000													20	46					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155321	139155321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139155321G>A	ENST00000395297.1	-	16	3742	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1191										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAACCGATCCGTCATAGTATC	0.463000										HNSCC(54;0.14)			19	24					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29814854	29814854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29814854C>A	ENST00000561482.1	+	10	1967	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	KIF22_ENST00000160827.4_Missense_Mutation_p.L512I|KIF22_ENST00000569382.2_Missense_Mutation_p.L444I|KIF22_ENST00000400750.2_Missense_Mutation_p.L17I|KIF22_ENST00000400751.5_Missense_Mutation_p.L444I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	512				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCCACAATGCTCCGGCCCCT	0.532000													14	17					1.05317e-09	1.28483e-09	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74426914	74426914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74426914C>T	ENST00000361742.3	+	4	2588	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ISLR2_ENST00000453268.2_Missense_Mutation_p.P607S|ISLR2_ENST00000435464.1_Missense_Mutation_p.P607S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565159.1_Missense_Mutation_p.P607S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P607S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	607					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCCACAGTGCCCCTTCTGGG	0.627000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	1	0	0
RIMS1	0	broad.mit.edu	37	6	72945373	72945373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:72945373T>G	ENST00000264839.7	+	8	1799	c.1799T>G	c.(1798-1800)gTt>gGt	p.V600G	RIMS1_ENST00000517827.1_Missense_Mutation_p.V59G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V600G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V600G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V600G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V600G|RIMS1_ENST00000521978.1_Missense_Mutation_p.V600G|RIMS1_ENST00000523963.1_Missense_Mutation_p.V74G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V74G|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.V600G|RIMS1_ENST00000517960.1_Missense_Mutation_p.V600G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	600					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGGACGTGTTATTCTTAAC	0.368000													7	9					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170226	63170226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170226C>A	ENST00000399298.3	-	6	1329	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	321						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTTCAGGCCTTCTGACTGA	0.567000													19	27					0.000229342	0.000251627	1	1	0
BHLHE40	8553	broad.mit.edu	37	3	5024755	5024755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5024755G>A	ENST00000256495.3	+	5	1220	c.617G>A	c.(616-618)aGc>aAc	p.S206N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	206						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAAAAACCCAGCTCTCCGGCC	0.607000													20	38					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67382747	67382747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67382747G>A	ENST00000478722.1	+	6	1538	c.417G>A	c.(415-417)acG>acA	p.T139T	GPHN_ENST00000543237.1_Silent_p.T152T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.T108T|GPHN_ENST00000459628.1_Silent_p.T121T|GPHN_ENST00000315266.5_Silent_p.T139T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	139	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GAGGGAAAACGCTCATAATTA	0.378000			T	MLL	AL								13	36					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877589	39877589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39877589C>A	ENST00000530275.1	+	1	1439	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	415										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCCTAATGCTGTGGAACTT	0.408000													4	63					1	1	1	1	0
ZC3H7B	23264	broad.mit.edu	37	22	41745272	41745272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41745272G>A	ENST00000352645.4	+	16	2172	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E639K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	655					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCTTCATCGAGCTCAAGGT	0.657000													30	46					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090101	31090101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31090101C>T	ENST00000394979.2	+	1	2879	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A819V			O15015	ZN646_HUMAN	zinc finger protein 646	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGCTGGGGCCGCTCACACA	0.617000													19	46					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196086	201196086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201196086G>A	ENST00000335211.4	+	23	10993	c.10863G>A	c.(10861-10863)cgG>cgA	p.R3621R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGCCTGCGGTCCCACCTGC	0.677000													56	55					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178050414	178050414	+	Missense_Mutation	SNP	G	G	A	rs140778498	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178050414G>A	ENST00000316308.4	-	2	172	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	2						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTGGAATGCCGCATCTGTTGA	0.383000													4	40					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316328	12316328	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12316328C>A	ENST00000256186.2	+	3	1641	c.1350C>A	c.(1348-1350)acC>acA	p.T450T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	450					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCAAAAGCACCTCCCTGCGCC	0.597000													12	42					3.07112e-06	3.52574e-06	1	1	0
SUCO	51430	broad.mit.edu	37	1	172547524	172547524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172547524A>G	ENST00000367723.3	+	13	2007	c.1883A>G	c.(1882-1884)gAc>gGc	p.D628G	SUCO_ENST00000263688.3_Missense_Mutation_p.D476G	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTTGATGAGGACTATGGTAAG	0.343000													28	35					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976717	38976717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38976717C>T	ENST00000355481.4	+	34	5553	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	RYR1_ENST00000359596.3_Missense_Mutation_p.R1808W|RYR1_ENST00000360985.3_Missense_Mutation_p.R1808W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1808	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGCCCTGCGGGACAAGGC	0.711000													22	26					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829411	98829411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98829411C>T	ENST00000267291.6	-	1	108	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	27							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGCCCCTTTCCGTCCAGGCTT	0.647000													7	16					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877483	31877483	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31877483C>T	ENST00000396184.3	-	11	1287		c.e11+1		PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCACACTTACGCTTCTGGCT	0.423000													54	147					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29185179	29185179	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185179T>C	ENST00000321990.4	+	9	3172	c.2793_splice	c.e9-1	p.F932_splice	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	932					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTATTGCAGTTCATGAGGAC	0.313000													24	37					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404123	220404123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220404123C>T	ENST00000243776.6	-	4	2558	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	CHPF_ENST00000535926.1_Silent_p.E608E	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	770						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTTGCCCTGCTCCTGTTCAA	0.667000													10	12					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18021739	18021739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18021739C>T	ENST00000361221.3	+	28	3430	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P864S|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P794S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1091					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTCCTGCTGCCCGTGCCTCG	0.627000													17	31					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769490	50769490	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50769490T>C	ENST00000433963.1	+	11	1512	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	USP8_ENST00000307179.4_Missense_Mutation_p.S338P|USP8_ENST00000425032.3_Missense_Mutation_p.S261P|USP8_ENST00000396444.3_Missense_Mutation_p.S338P	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	338					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTTATCCCTCATTGGAAGA	0.348000													10	27					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818558	43818558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43818558G>T	ENST00000382031.1	+	5	5632	c.5601G>T	c.(5599-5601)caG>caT	p.Q1867H	MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1629H|MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1629H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1629						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTAGTGCAGGAGGGCAGGG	0.547000													5	67					5.9392e-07	6.91975e-07	1	1	0
NUP214	8021	broad.mit.edu	37	9	134021675	134021675	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134021675C>A	ENST00000359428.5	+	13	2073	c.1929C>A	c.(1927-1929)gtC>gtA	p.V643V	RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V643V|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.V632V|RP11-544A12.4_ENST00000590461.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	643	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTCCTCAGTCTTGCCCTCAC	0.502000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	247					1.15088e-07	1.35723e-07	1	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37462235	37462235	+	Missense_Mutation	SNP	C	C	T	rs34971651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37462235C>T	ENST00000381792.2	-	19	2500	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R787H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R765H|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R774H			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	774	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGAACCAGCGGCCACTGAG	0.627000													6	14					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619407	68619407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619407C>T	ENST00000229134.4	-	1	194	c.130G>A	c.(130-132)Gct>Act	p.A44T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	44					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433000													74	125					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028463	59028463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028463G>T	ENST00000594051.1	-	2	1058	c.578C>A	c.(577-579)cCt>cAt	p.P193H	ZBTB45_ENST00000354590.3_Missense_Mutation_p.P193H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.P193H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	193	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCAGCATCAGGCCCCTCAGC	0.682000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	93					1.19451e-25	1.58886e-25	1	1	0
ILF3	3609	broad.mit.edu	37	19	10782100	10782100	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10782100G>T	ENST00000449870.1	+	4	617	c.300G>T	c.(298-300)aaG>aaT	p.K100N	ILF3_ENST00000589998.1_Missense_Mutation_p.K100N|ILF3_ENST00000588657.1_Missense_Mutation_p.K100N|ILF3_ENST00000250241.8_Missense_Mutation_p.K100N|ILF3_ENST00000318511.3_Missense_Mutation_p.K100N|ILF3_ENST00000592763.1_Missense_Mutation_p.K100N|ILF3_ENST00000420083.1_Missense_Mutation_p.K100N|ILF3_ENST00000590261.1_Missense_Mutation_p.K100N|ILF3_ENST00000407004.3_Missense_Mutation_p.K100N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	100	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGGCAAAGGGCCTCCTAC	0.617000													10	115					0.0692343	0.0706532	1	1	0
TAF1A	9015	broad.mit.edu	37	1	222753158	222753158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222753158C>A	ENST00000350027.4	-	4	501	c.348G>T	c.(346-348)gaG>gaT	p.E116D	TAF1A_ENST00000543857.1_Missense_Mutation_p.E116D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Missense_Mutation_p.E2D|TAF1A_ENST00000391882.1_Missense_Mutation_p.E2D|TAF1A_ENST00000352967.4_Missense_Mutation_p.E116D	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	116					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TATTGAAACTCTCCATGTTGC	0.328000													48	78					3.86361e-14	4.92368e-14	1	1	0
CTSW	1521	broad.mit.edu	37	11	65650948	65650948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65650948C>A	ENST00000528419.1	+	9	1077	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	CTSW_ENST00000307886.3_Intron			P56202	CATW_HUMAN	cathepsin W	0					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CTCTTCCCACCTTCCCGCCCC	0.602000													6	80					0.00198382	0.00210581	1	1	0
HDX	139324	broad.mit.edu	37	X	83724245	83724245	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83724245A>G	ENST00000297977.5	-	3	597	c.486T>C	c.(484-486)tgT>tgC	p.C162C	HDX_ENST00000506585.2_Silent_p.C104C|HDX_ENST00000373177.2_Silent_p.C162C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGCATTTTTACAGTGTGCTA	0.353000													13	133					0	0	1	0	0
AC010336.1	0	broad.mit.edu	37	19	7965224	7965224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7965224C>T	ENST00000539278.1	-	1	3203	c.43G>A	c.(43-45)Gca>Aca	p.A15T	LRRC8E_ENST00000306708.6_Missense_Mutation_p.A606V																							AGCCTGGGTGCGCTGCAGGAA	0.632000													17	18					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828639	98828639	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98828639G>A	ENST00000267291.6	-	1	880	c.852C>T	c.(850-852)ttC>ttT	p.F284F	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	284							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGTGGCCCGGAAGTGCTCCA	0.557000													43	44					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754541	76754541	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754541C>T	ENST00000536229.3	+	1	2860	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	SALL3_ENST00000537592.2_Silent_p.I850I|SALL3_ENST00000575389.2_Silent_p.I850I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGAAGATGATCGACTCGGTCA	0.667000													22	28					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111066763	111066763	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111066763A>C	ENST00000550703.2	+	4	820	c.664A>C	c.(664-666)Aat>Cat	p.N222H	TCTN1_ENST00000551590.1_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551555.2_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	0					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCCCATCACAAATATCTTTCC	0.353000													3	36					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567320	30567320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30567320G>A	ENST00000395091.2	-	3	734	c.419C>T	c.(418-420)tCg>tTg	p.S140L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.S141L			Q96H86	ZN764_HUMAN	zinc finger protein 764	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S141L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGGCCCGGCCGAGGGGGCTTG	0.677000													14	22					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12037475G>A	ENST00000396373.4	+	6	1380	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								26	76					0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361188	5361188	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5361188C>A	ENST00000223864.2	-	5	434		c.e5-1			NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein							integral to membrane											TTTAATCGCTCTGTTTCAAGA	0.343000													4	51					0.00909568	0.00947522	1	1	0
NAA15	80155	broad.mit.edu	37	4	140272758	140272758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140272758A>G	ENST00000296543.5	+	9	1330	c.1007A>G	c.(1006-1008)aAa>aGa	p.K336R	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.K336R	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	336					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TACAAAGACAAAGAAAAGGTA	0.343000													3	78					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10417403	10417403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10417403C>T	ENST00000226207.5	-	7	666	c.572G>A	c.(571-573)cGt>cAt	p.R191H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	191	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATGACACGCTTGGTGTT	0.433000													13	63					0	0	1	0	0
C22orf39	128977	broad.mit.edu	37	22	19431881	19431881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19431881G>A	ENST00000399562.3	-	3	768	c.225C>T	c.(223-225)gtC>gtT	p.V75V	C22orf39_ENST00000333059.4_Silent_p.V112V|C22orf39_ENST00000399568.1_Intron|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000542103.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39	75												Colorectal(54;0.0993)					GTGCAGCCCGGACTCGTGCCC	0.627000													15	11					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53567532	53567532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53567532G>A	ENST00000267085.4	-	3	288	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000379846.1_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGAGAGCCGGAGGCAGGGTG	0.507000													6	13					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576661	33576661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33576661C>A	ENST00000504830.1	-	19	3805	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1072I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1157	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTGAGCCACTGTGAATCTC	0.468000										HNSCC(64;0.19)			11	100					1.5842e-08	1.90059e-08	1	1	0
SAPCD2	89958	broad.mit.edu	37	9	139960050	139960050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139960050C>T	ENST00000409687.3	-	3	882	c.755G>A	c.(754-756)gGc>gAc	p.G252D		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	252						cytoplasm|nucleus											CCAGTCGCGGCCCCGCGCCAT	0.632000													5	94					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22396404C>T	ENST00000263160.3	+	9	1582	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373000													69	155					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115012436	115012436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:115012436C>T	ENST00000360383.3	+	11	1126	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	CDC16_ENST00000252458.6_Missense_Mutation_p.L216F|CDC16_ENST00000375308.1_Missense_Mutation_p.L216F|CDC16_ENST00000356221.3_Missense_Mutation_p.L310F|CDC16_ENST00000375310.1_Missense_Mutation_p.L216F|CDC16_ENST00000252457.5_Missense_Mutation_p.L309F|CDC16_ENST00000375312.3_Missense_Mutation_p.L216F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGTTACTATCTCATGGTCGG	0.328000													18	47					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83945881	83945881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83945881C>T	ENST00000262430.4	+	4	876	c.857C>T	c.(856-858)gCg>gTg	p.A286V	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	286					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACTGCTGCGATCTTTTAT	0.507000													48	51					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478853	66478853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66478853C>T	ENST00000256447.4	-	3	1975	c.1818G>A	c.(1816-1818)acG>acA	p.T606T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	606	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTTGCACACGTGGTCTCCT	0.428000													27	54					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477025	3477025	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3477025T>G	ENST00000174621.6	-	12	2288	c.1999A>C	c.(1999-2001)Att>Ctt	p.I667L	TRPV1_ENST00000399759.3_Missense_Mutation_p.I669L|TRPV1_ENST00000310522.5_Missense_Mutation_p.I609L|TRPV1_ENST00000399756.4_Missense_Mutation_p.I669L|SHPK_ENST00000572705.1_Missense_Mutation_p.I669L|TRPV1_ENST00000571088.1_Missense_Mutation_p.I669L|TRPV1_ENST00000576351.1_Missense_Mutation_p.I659L|TRPV1_ENST00000425167.2_Missense_Mutation_p.I680L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	669					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAGGTGAGAATTACATAGGCC	0.517000													3	41					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957930	53957930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53957930G>A	ENST00000396328.1	-	14	2040	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.R598*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R611*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R601*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAATAATTCGTGCTCTTTCT	0.383000													17	42					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83857007	83857007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83857007A>G	ENST00000349129.2	+	26	5989	c.5729A>G	c.(5728-5730)cAa>cGa	p.Q1910R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1901R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1891R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1910					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTATATTCAAAGGTAAGAT	0.284000													12	24					0	0	1	0	0
MRPL55	128308	broad.mit.edu	37	1	228294577	228294577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228294577C>T	ENST00000366731.5	-	6	1172	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	MRPL55_ENST00000430433.1_Missense_Mutation_p.A127T|MRPL55_ENST00000391867.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366736.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366739.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366735.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366740.1_Missense_Mutation_p.A91T|MRPL55_ENST00000411464.2_Missense_Mutation_p.A91T|MRPL55_ENST00000366747.3_Missense_Mutation_p.A91T|MRPL55_ENST00000336300.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366738.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366733.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366744.1_Missense_Mutation_p.A91T|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366742.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366732.1_Missense_Mutation_p.A88T|MRPL55_ENST00000366734.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366746.3_Missense_Mutation_p.A91T|MRPL55_ENST00000295008.4_Missense_Mutation_p.A91T|MRPL55_ENST00000348259.5_Missense_Mutation_p.A91T|MRPL55_ENST00000336520.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366741.1_Missense_Mutation_p.A91T			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	91					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CGCAGCCTGGCCCGGCGCTCC	0.597000													35	42					0	0	1	0	0
SCIMP	388325	broad.mit.edu	37	17	5114138	5114138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5114138G>A	ENST00000574081.1	-	5	500	c.396C>T	c.(394-396)gaC>gaT	p.D132D	RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Silent_p.D125D	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	132						integral to membrane											TTTCAACATCGTCATAGTCAT	0.383000													59	17					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397435	125397435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125397435G>T	ENST00000536769.1	-	1	2459	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	UBC_ENST00000339647.5_Missense_Mutation_p.L295M|UBC_ENST00000546120.1_Missense_Mutation_p.L219M|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	295	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAGGGTAGACTCT	0.547000													52	97					8.27458e-37	1.11411e-36	1	1	0
SNORD113-3	0	broad.mit.edu	37	14	101396321	101396321	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101396321G>T	ENST00000364830.2	+	0	66					NR_003231.1																						gtaactctgaggtccaTTATA	0.338000													8	100					0.000442599	0.00048047	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225727444	225727444	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225727444T>G	ENST00000409592.3	-	14	1717	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K541T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	541							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTTGGATTTTAGTATCTT	0.303000													4	26					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077726	74077726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74077726G>A	ENST00000334586.5	+	7	853	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	257	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGCCCCTCCGGGCCATTGAG	0.622000													43	59					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6221305	6221305	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221305C>T	ENST00000311352.2	+	1	930	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTCCAACATCTACTTGC	0.527000													158	214					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219884251	219884251	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219884251G>T	ENST00000341552.5	-	20	3533	c.3450C>A	c.(3448-3450)acC>acA	p.T1150T	CCDC108_ENST00000441968.1_Silent_p.T1150T|CCDC108_ENST00000453220.1_Silent_p.T1150T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1150						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTGTAGGTGAGCTCAC	0.622000													3	24					0.004672	0.0049138	1	1	0
SLC22A4	6583	broad.mit.edu	37	5	131671563	131671563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131671563C>A	ENST00000200652.3	+	8	1488	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	438					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTGGGATCACCTCTGCTTTCT	0.488000													7	194					0.00448238	0.00472561	1	1	0
HDGFRP2	0	broad.mit.edu	37	19	4499514	4499514	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499514C>T	ENST00000301284.4	+	14	1666	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	HDGFRP2_ENST00000586684.1_Silent_p.D534D	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		534					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGAACAAGGACGTAATGGAGA	0.602000													9	7					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21957283	21957283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21957283C>T	ENST00000289921.7	+	10	1266	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	407										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGCTCCCCTGCGCTGCTGCGG	0.672000													17	14					0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7735145	7735145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7735145C>T	ENST00000221515.2	+	4	325	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RETN_ENST00000381324.2_Silent_p.G53G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	79							hormone activity			ovary(1)	1						CCGCCTGTGGCTCGTGGGATG	0.697000													6	5					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112919928	112919928	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112919928C>T	ENST00000351677.2	+	10	1341	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	PTPN11_ENST00000392597.1_Silent_p.G381G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	381	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAATATGGCGTCATGCGTG	0.368000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				20	37					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5643168	5643168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5643168G>A	ENST00000382361.3	+	3	1145	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	FSCN1_ENST00000340250.6_Missense_Mutation_p.R323H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	344					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGTGACCGGCGCATCACACTG	0.622000													10	48					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829798	160829798	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160829798A>G	ENST00000392145.1	+	4	729	c.702A>G	c.(700-702)gtA>gtG	p.V234V	SLC22A3_ENST00000275300.2_Silent_p.V234V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	234						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CAGAAATAGTAGGTTCGAAAC	0.403000													4	53					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30521076	30521076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30521076A>G	ENST00000358365.3	+	11	1046	c.819A>G	c.(817-819)cgA>cgG	p.R273R	RHOT1_ENST00000581094.1_Silent_p.R273R|RHOT1_ENST00000394692.2_Silent_p.R273R|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Silent_p.R273R|RHOT1_ENST00000583994.1_Silent_p.R146R|RHOT1_ENST00000354266.3_Silent_p.R252R|RHOT1_ENST00000333942.6_Silent_p.R273R	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGCTTCGACGATTTGGTTATG	0.333000													190	326					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295065	62295065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62295065G>A	ENST00000378024.4	-	5	7098	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2275					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAC	0.512000													89	188					0	0	1	0	0
VAMP8	8673	broad.mit.edu	37	2	85808760	85808760	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85808760A>C	ENST00000263864.5	+	3	380	c.224A>C	c.(223-225)aAg>aCg	p.K75T	VAMP8_ENST00000409760.1_3'UTR|VAMP8_ENST00000432071.1_Missense_Mutation_p.K49T	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	75					post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane		p.K75M(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AAGAACGTGAAGATGATTGTC	0.483000													12	265					0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17399332	17399332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17399332G>T	ENST00000225688.3	-	1	375	c.164C>A	c.(163-165)cCt>cAt	p.P55H	RASD1_ENST00000579152.1_Missense_Mutation_p.P55H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	55					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CTCGATGGTAGGCGTGTAGGC	0.627000													24	32					7.4402e-23	9.83099e-23	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123161240	123161240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123161240C>T	ENST00000264501.4	+	29	4776	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1468V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1468V			Q2LD37	K1109_HUMAN	KIAA1109	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGTTTCTGCGTTAGGTGGA	0.423000													5	68					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556060	176556060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:176556060G>A	ENST00000280187.7	-	8	878	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GPM6A_ENST00000506894.1_Missense_Mutation_p.T267I|GPM6A_ENST00000515090.1_Missense_Mutation_p.T271I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T278I|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	278						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATGCATTTATGTGTATGCATT	0.433000													6	52					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231344960	231344960	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231344960G>A	ENST00000444294.3	+	8	2939	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	TRIM67_ENST00000366653.5_Missense_Mutation_p.R696H|TRIM67_ENST00000449018.3_Missense_Mutation_p.R634H|TRIM67_ENST00000366652.2_Missense_Mutation_p.R696H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	696	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GACAACAACCGCAGCTGGTTC	0.607000													21	20					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127225066	127225066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127225066C>A	ENST00000321407.2	-	1	595	c.171G>T	c.(169-171)aaG>aaT	p.K57N	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	57						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGACAGCACCTTGATGCTGG	0.567000													24	94					2.44723e-14	3.12147e-14	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398280	25398280	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25398280G>A	ENST00000311936.3	-	2	230	c.39C>T	c.(37-39)ggC>ggT	p.G13G	KRAS_ENST00000557334.1_Silent_p.G13G|KRAS_ENST00000256078.4_Silent_p.G13G|KRAS_ENST00000556131.1_Silent_p.G13G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(22)|p.G13G(18)|p.G13V(6)|p.G13E(3)|p.G13_V14insG(2)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGCCTACGCCACCAGCTC	0.343000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	21					0	0	1	0	0
MIR181B1	0	broad.mit.edu	37	1	198828060	198828060	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198828060C>T	ENST00000385240.1	-	0	51					NR_029612.1																						TTCAACCCACCGACAGCAATG	0.433000													26	41					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030987	32030987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030987A>G	ENST00000360311.4	+	2	965	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGTAGCACCGACAGATATGAT	0.393000													27	47					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60889372	60889372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60889372C>T	ENST00000347785.3	+	6	1261	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	365	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGTGTTTGTCACATGTGAGT	0.552000													13	21					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803186	67803186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67803186A>G	ENST00000422365.2	+	10	1331	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R	MCMDC2_ENST00000541540.1_Missense_Mutation_p.K324R|MCMDC2_ENST00000313616.5_Missense_Mutation_p.K387R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.K387R	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	387					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TCCAGGAATAAGTATGGAACT	0.408000													7	92					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67246065	67246065	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67246065A>T	ENST00000392676.3	-	37	4810	c.4746T>A	c.(4744-4746)tcT>tcA	p.S1582S	ABCA5_ENST00000588877.1_Silent_p.S1582S|ABCA5_ENST00000392677.2_Silent_p.S1583S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCTTAAAAAAAGATTGTGAAA	0.284000													4	34					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799639	133799639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133799639G>A	ENST00000372338.4	-	3	939	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FIBCD1_ENST00000253018.4_Missense_Mutation_p.R75W|FIBCD1_ENST00000372337.2_Missense_Mutation_p.R75W|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R233W	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	233					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCACAGCCCCGGGGCCGGGTT	0.731000													3	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427755	179427755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179427755G>A	ENST00000589042.1	-	326	83328	c.83104C>T	c.(83104-83106)Cga>Tga	p.R27702*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R26061*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26061	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGGTCGACCTTTGATA	0.453000													69	85					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68408995	68408995	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68408995C>A	ENST00000396591.3	+	6	1086	c.476C>A	c.(475-477)gCt>gAt	p.A159D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	159					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCATTATTGCTGTGATCTGT	0.348000													11	39					1.08611e-07	1.2824e-07	1	1	0
CLCNKB	1188	broad.mit.edu	37	1	16376349	16376349	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16376349T>C	ENST00000375679.4	+	10	1017	c.906T>C	c.(904-906)tgT>tgC	p.C302C	CLCNKB_ENST00000375667.3_Silent_p.C133C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTTCTGTCAGCGAATCT	0.612000													55	89					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159822439	159822439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159822439G>A	ENST00000408953.3	-	2	566	c.59C>T	c.(58-60)aCg>aTg	p.T20M	C5orf54_ENST00000523213.1_Missense_Mutation_p.T20M	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atctacttccgttgtacaggt	0.433000													7	117					0	0	1	0	0
ATAD1	84896	broad.mit.edu	37	10	89544250	89544250	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89544250G>A	ENST00000308448.7	-	5	938	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATAD1_ENST00000400215.3_Missense_Mutation_p.S129F|ATAD1_ENST00000541004.1_Missense_Mutation_p.S187F|ATAD1_ENST00000328142.3_Missense_Mutation_p.S187F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	187						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAAGATGATGGATGGTTGTAG	0.348000													39	58					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775888	95775888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775888C>T	ENST00000416240.2	-	14	1625	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G478R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G370R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	478					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAAAAAACCCCAGGTCCCGC	0.393000													8	207					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520135	129520135	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129520135C>T	ENST00000305031.4	+	3	1658	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	434						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGAGCAAGCTCAGTAACAC	0.488000													9	40					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859595	131859595	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131859595T>C	ENST00000359827.3	-	21	4921	c.3959A>G	c.(3958-3960)tAc>tGc	p.Y1320C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1320C			Q9HCM2	PLXA4_HUMAN	plexin A4	1320						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCATGGTGTAAGTTCTATA	0.577000													37	122					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47983008	47983008	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47983008C>A	ENST00000289672.2	-	2	195	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	49					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACAATCCACCTCCAGGAGGG	0.537000													4	67					0.150653	0.152692	1	1	0
NEU3	10825	broad.mit.edu	37	11	74717250	74717250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74717250C>T	ENST00000294064.4	+	3	2026	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	NEU3_ENST00000544263.1_Missense_Mutation_p.P334S|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.P367S|NEU3_ENST00000545272.1_Missense_Mutation_p.P258S|NEU3_ENST00000529024.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	367										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTACTCACACCCAACCAGTAG	0.567000													8	46					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144459625	144459625	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144459625G>T	ENST00000289013.6	+	4	482	c.381_splice	c.e4+1	p.K127_splice		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	127	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCGCTGAAGGTAGGTACTG	0.582000													5	28					0.00116845	0.00124821	1	1	0
CKMT2	1160	broad.mit.edu	37	5	80559355	80559355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80559355C>T	ENST00000424301.2	+	10	1298	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R354C|CKMT2_ENST00000437669.1_Missense_Mutation_p.R354C|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	354	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTCCAGAAGCGTGGCACAGG	0.453000													34	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621439	179621439	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179621439C>A	ENST00000589042.1	-	46	10988	c.10764G>T	c.(10762-10764)aaG>aaT	p.K3588N	TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.K3417N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3274							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTCCTCCTTTGTGAAAG	0.408000													9	48					0.00448238	0.00472561	1	1	0
GCC1	79571	broad.mit.edu	37	7	127224742	127224742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127224742C>T	ENST00000321407.2	-	1	919	c.495G>A	c.(493-495)ttG>ttA	p.L165L	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	165						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAAGTAGCCAACTGAGTCT	0.522000													30	78					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36624289	36624289	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36624289G>T	ENST00000249066.6	-	6	651	c.175C>A	c.(175-177)Ctt>Att	p.L59I	APOL2_ENST00000358502.5_Missense_Mutation_p.L59I|APOL2_ENST00000451256.2_Missense_Mutation_p.L171I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	59					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGACTTGCAAGCTTGTTCAGA	0.458000													5	156					0.014758	0.0152625	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2967741C>A	ENST00000520002.1	-	44	7105	c.6550G>T	c.(6550-6552)Gga>Tga	p.G2184*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G2184*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473000													5	10					0.014758	0.0152625	1	1	0
ZNF649	65251	broad.mit.edu	37	19	52394115	52394115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394115G>A	ENST00000354957.3	-	5	1558	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	ZNF649_ENST00000600738.1_Missense_Mutation_p.T397M|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCTCTCCCGTGTGAGTTCT	0.433000													88	135					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599226	70599226	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70599226C>A	ENST00000310613.2	-	6	800		c.e6-1			NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCATAGGCCACTAAAACCAGA	0.289000													35	58					4.65686e-17	6.02554e-17	1	1	0
FREM1	158326	broad.mit.edu	37	9	14747275	14747275	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14747275T>C	ENST00000380881.4	-	34	6814	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	FREM1_ENST00000422223.2_Missense_Mutation_p.H1999R|FREM1_ENST00000380880.3_Missense_Mutation_p.H1999R|FREM1_ENST00000380894.1_Missense_Mutation_p.H535R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1999					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGGAAGTGTGAGTCAGT	0.418000													15	161					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37515055	37515055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37515055G>A	ENST00000378621.3	+	2	990	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	LANCL3_ENST00000378619.3_Missense_Mutation_p.E230K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	230							catalytic activity			lung(4)|pancreas(1)	5						CTATGGAACCGAATACTTGGG	0.418000													22	35					0	0	1	0	0
DUSP13	0	broad.mit.edu	37	10	76854614	76854614	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76854614G>T	ENST00000491677.2	-	8	1346	c.804C>A	c.(802-804)gcC>gcA	p.A268A	DUSP13_ENST00000605915.1_Silent_p.A161A|DUSP13_ENST00000464872.1_Silent_p.A88A|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.A189A|DUSP13_ENST00000478873.2_Silent_p.A275A|DUSP13_ENST00000472493.2_Silent_p.A139A|DUSP13_ENST00000607131.1_Silent_p.A232A	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	130						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTACCCCCATGGCACAGTGTA	0.592000													4	20					2.56e-06	2.9446e-06	1	1	0
MST1R	4486	broad.mit.edu	37	3	49935547	49935547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49935547G>A	ENST00000296474.3	-	5	1844	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	MST1R_ENST00000344206.4_Missense_Mutation_p.T606I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	606	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCTGATGGGTTCCCTCAGG	0.592000													26	44					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20577209	20577209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20577209C>A	ENST00000382869.3	+	4	1318	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	ZMYM2_ENST00000382871.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382874.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382881.3_Missense_Mutation_p.S269Y	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTTTTGTTCTACCACCTGC	0.398000													11	17					0.000673444	0.000724755	1	1	0
IMPAD1	54928	broad.mit.edu	37	8	57876370	57876370	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:57876370T>G	ENST00000262644.4	-	5	1320	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	354						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTCCTGTCTTTTCTAGATCTG	0.458000													32	47					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56134236	56134236	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56134236A>G	ENST00000508342.1	-	15	3290	c.2991T>C	c.(2989-2991)gaT>gaC	p.D997D	NEDD4_ENST00000435532.3_Silent_p.D578D|NEDD4_ENST00000506154.1_Silent_p.D981D|NEDD4_ENST00000338963.2_Silent_p.D925D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	997	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTTTCACCATCAAACTCAA	0.428000													35	60					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205160	56205160	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56205160T>C	ENST00000361673.3	-	5	2472	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	753							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAACACACCTGGGGACATAG	0.493000													19	170					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59986875	59986875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:59986875C>T	ENST00000373935.3	-	3	624	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	101						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGAAGAACACCATCAAAACA	0.358000													17	42					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176815130	176815130	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176815130C>T	ENST00000324417.5	+	7	871	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SLC34A1_ENST00000512593.1_Silent_p.G260G	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	260					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602000													5	36					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34134482	34134482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34134482C>A	ENST00000331923.4	-	4	985	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D266Y|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TCATCGTCATCTTCATCATCA	0.393000													10	105					1.58986e-06	1.84011e-06	1	1	0
GART	2618	broad.mit.edu	37	21	34907045	34907045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34907045G>T	ENST00000381831.3	-	4	519	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	GART_ENST00000381815.4_Missense_Mutation_p.L86M|GART_ENST00000381839.3_Missense_Mutation_p.L86M|GART_ENST00000361093.5_Missense_Mutation_p.L86M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	86					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCAGACCTCAGGTTCCCAACA	0.473000													14	29					3.27435e-08	3.90559e-08	1	1	0
KCNF1	3754	broad.mit.edu	37	2	11053082	11053082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053082C>T	ENST00000295082.1	+	1	1020	c.530C>T	c.(529-531)tCg>tTg	p.S177L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGCCCGAGTCGTCGTGCCCG	0.687000													13	20					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791219	41791219	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41791219T>C	ENST00000396930.3	-	18	5062	c.4519A>G	c.(4519-4521)Agt>Ggt	p.S1507G	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507G|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507G	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1507					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGTAGCCACTCTCAAGGGCA	0.562000													8	91					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	668483	668483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:668483C>T	ENST00000266383.5	+	19	2797	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	928						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAATGGGTTCGGGCTGCTTG	0.612000													28	52					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90571922	90571922	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90571922A>C	ENST00000551025.1	+	0	1931							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAAGATCTTAAATCTAGATCT	0.308000													3	65					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27203268	27203268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203268C>A	ENST00000343483.6	-	2	845	c.773G>T	c.(772-774)aGg>aTg	p.R258M	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R98M|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	258							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CATTTTCATCCTGCGGTTCTG	0.463000			T	"""NUP98, MSI2"""	AML*								19	183					1.01871e-10	1.25892e-10	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1578988	1578988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578988C>T	ENST00000572621.1	-	18	3063	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R933H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	933						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAACAGGCGGCGCTTGTCGGC	0.512000													92	125					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138598	56138598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:56138598C>T	ENST00000373965.2	-	4	656	c.262G>A	c.(262-264)Gat>Aat	p.D88N	PCDH15_ENST00000373957.3_Missense_Mutation_p.D66N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D88N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D88N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	88	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403000										HNSCC(58;0.16)			13	141					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103418839	103418839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103418839G>A	ENST00000361246.2	-	24	3456	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1056					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACTCACCCTCGCAGGCGTAGC	0.632000													7	10					0	0	1	0	0
RP4-777D9.2	0	broad.mit.edu	37	20	21143787	21143787	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21143787G>A	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							CTCCACTAACGCACCAACAAG	0.373000													43	68					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2732805	2732805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2732805G>T	ENST00000269740.4	-	3	1218	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	SLC39A3_ENST00000545664.1_Missense_Mutation_p.L297I|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGAAGAGGACCTTGAGC	0.667000													22	37					2.39556e-15	3.07139e-15	1	1	0
UGT2A1	10941	broad.mit.edu	37	4	70512785	70512785	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512785A>G	ENST00000503640.1	-	1	633	c.578T>C	c.(577-579)gTt>gCt	p.V193A	UGT2A1_ENST00000286604.4_Missense_Mutation_p.V193A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V193A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V193A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	193					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAGCAGGAACATAGGAAGG	0.413000													17	45					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151765286	151765286	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151765286A>G	ENST00000535741.1	-	28	5008	c.4535T>C	c.(4534-4536)aTt>aCt	p.I1512T	LRBA_ENST00000357115.3_Missense_Mutation_p.I1512T|LRBA_ENST00000507224.1_Missense_Mutation_p.I1512T|LRBA_ENST00000510413.1_Missense_Mutation_p.I1512T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1512						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGCCGATTAATATCCATGTC	0.368000													4	143					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861379	26861379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26861379C>T	ENST00000226247.2	+	6	987	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320W	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAATTCTGTCCGGCACAACCT	0.572000													26	41					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160321854	160321854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160321854G>A	ENST00000368063.1	+	9	1074	c.794G>A	c.(793-795)cGt>cAt	p.R265H	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000294785.5_Missense_Mutation_p.R285H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R265H|NCSTN_ENST00000368065.4_Missense_Mutation_p.R27H			Q92542	NICA_HUMAN	nicastrin	285					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATAGTCGTTCCTTTTTC	0.488000													35	68					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36983581	36983581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36983581G>T	ENST00000300105.6	-	2	1207	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	76					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTTGCACAGACCTTTGAAA	0.483000													40	74					1.00001e-27	1.33502e-27	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43325297	43325297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325297C>T	ENST00000361428.2	-	3	832	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R252Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	252					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCGATTCCGTTCTGTTCC	0.453000													37	57					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208175	75208175	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208175C>A	ENST00000413679.2	+	15	2058	c.1755C>A	c.(1753-1755)acC>acA	p.T585T	SEC14L1_ENST00000430767.4_Silent_p.T585T|SEC14L1_ENST00000436233.4_Silent_p.T585T|SEC14L1_ENST00000392476.2_Silent_p.T585T|SEC14L1_ENST00000443798.4_Silent_p.T585T|SEC14L1_ENST00000431431.2_Silent_p.T551T|SEC14L1_ENST00000585618.1_Silent_p.T585T|SEC14L1_ENST00000591437.1_Silent_p.T551T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	585	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACAGCATCACCTCTCCGGGTG	0.532000													101	143					3.53432e-41	4.7684e-41	1	1	0
KPNA5	3841	broad.mit.edu	37	6	117045503	117045503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117045503G>A	ENST00000368564.1	+	10	1112	c.964G>A	c.(964-966)Ggt>Agt	p.G322S	KPNA5_ENST00000356348.1_Missense_Mutation_p.G322S			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	319	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGGGCAGTTGGTAATATTGT	0.274000													27	31					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036460	60036460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60036460G>T	ENST00000586569.1	+	9	1348	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	437					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGGCAGCCAGCCCCAGCCCC	0.612000													5	38					0.00116845	0.00124821	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463000										TSP Lung(27;0.18)			13	109					0.00185496	0.00197886	1	1	0
FBN3	84467	broad.mit.edu	37	19	8151120	8151120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8151120C>A	ENST00000600128.1	-	55	7258	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.G2282*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.G2282*			Q75N90	FBN3_HUMAN	fibrillin 3	2282	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGGAATCCCTCATCACAG	0.612000													28	45					4.4194e-11	5.49217e-11	1	1	0
VLDLR	7436	broad.mit.edu	37	9	2645695	2645695	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2645695T>C	ENST00000382100.2	+	10	1790	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	VLDLR_ENST00000382099.2_Silent_p.I478I	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	478					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGCTGACATTGCTGCCCAGA	0.423000													59	140					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55407675	55407675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55407675T>C	ENST00000401408.1	-	11	1700	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	CLHC1_ENST00000406437.2_Missense_Mutation_p.Y3C|CLHC1_ENST00000407122.1_Missense_Mutation_p.Y452C|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.Y330C	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		CTGCTGTATGTACTCCATGAC	0.403000													3	89					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430845	67430845	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67430845G>A	ENST00000349015.3	-	10	1437	c.999C>T	c.(997-999)caC>caT	p.H333H	ALDH3B2_ENST00000530069.1_Silent_p.H333H	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	333					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAACTTGCCGTGGTACCGGC	0.647000													5	20					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285840	223285840	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223285840G>T	ENST00000540964.1	-	4	995	c.534C>A	c.(532-534)tcC>tcA	p.S178S	TLR5_ENST00000342210.6_Silent_p.S178S			O60602	TLR5_HUMAN	toll-like receptor 5	178					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTGGTTGGAGGAAAAATCTA	0.413000													4	78					0.000602214	0.000649039	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45785689	45785689	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45785689A>G	ENST00000357450.4	-	10	1633	c.1634T>C	c.(1633-1635)aTt>aCt	p.I545T	SMC1B_ENST00000404354.3_Missense_Mutation_p.I545T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	545	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTACAACAATGGCAGTGAT	0.413000													12	107					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74189425	74189425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74189425C>A	ENST00000286523.5	-	10	3482	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Q900H	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CAACCTCTTCCTGGGCCGACT	0.557000													7	164					0.0293803	0.0301098	1	1	0
TPPP	11076	broad.mit.edu	37	5	678081	678081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:678081G>A	ENST00000360578.5	-	2	216	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGATTCCAGCGACAGCCTCTT	0.687000													5	5					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	457018	457018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:457018G>A	ENST00000512944.1	+	5	1250	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXOC3_ENST00000315013.5_Missense_Mutation_p.R354K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	365					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGATGATGAGGAACGTGGAG	0.547000													11	16					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36713578	36713578	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36713578A>G	ENST00000431169.1	-	3	560	c.260T>C	c.(259-261)aTt>aCt	p.I87T	AOAH_ENST00000535891.1_Missense_Mutation_p.I55T|AOAH_ENST00000258749.5_Missense_Mutation_p.I87T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	87	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAACTTGTCAATGACTAAATA	0.348000													7	59					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375614	46375614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46375614G>A	ENST00000302177.2	+	2	548	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	117					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CACACGCCAAGCCACCGTATT	0.632000													4	63					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204427	9204427	+	Silent	SNP	C	C	T	rs143401934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204427C>T	ENST00000429566.3	+	1	573	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCGTTTTCTGCGGCAGCCATG	0.577000													32	41					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628647	205628647	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628647C>T	ENST00000367145.3	-	5	1672	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport	integral to membrane		p.A459A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGCAGAGCGCGGGTGGAG	0.682000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64806070	64806070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64806070G>A	ENST00000377244.3	+	7	821	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	231					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACCCATGTGGCTGAGCT	0.642000													8	21					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95877901	95877901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95877901G>A	ENST00000523731.1	+	17	2377	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	INTS8_ENST00000447247.1_Silent_p.T748T|INTS8_ENST00000520845.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	748					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGGAATCTACGTTAGGTATCA	0.338000													60	112					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56651180	56651180	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56651180T>A	ENST00000394672.3	+	14	1954	c.1884T>A	c.(1882-1884)caT>caA	p.H628Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.H628Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.H594Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	628										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGAATCACATTGTGGATCAT	0.299000													14	30					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:85441713G>A	ENST00000521268.1	+	2	1262	c.157G>A	c.(157-159)Gtt>Att	p.V53I	RALYL_ENST00000522455.1_Missense_Mutation_p.V53I|RALYL_ENST00000518566.1_Missense_Mutation_p.V53I|RALYL_ENST00000517638.1_Missense_Mutation_p.V66I|RALYL_ENST00000521695.1_Missense_Mutation_p.V53I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	53	RRM.						identical protein binding|nucleotide binding|RNA binding	p.V53I(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGATGTTCCGTTCACAAAGG	0.438000													4	35					0	0	1	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010773	85010773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85010773C>A	ENST00000313732.4	-	7	1030	c.678G>T	c.(676-678)gaG>gaT	p.E226D	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E263D	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	226						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						ACAGAAGACCCTCAAGGCACA	0.458000													18	79					1.02788e-11	1.28409e-11	1	1	0
VWA9	81556	broad.mit.edu	37	15	65871755	65871755	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871755T>C	ENST00000395644.4	-	12	1883	c.1548A>G	c.(1546-1548)gaA>gaG	p.E516E	VWA9_ENST00000420799.2_Silent_p.E459E|VWA9_ENST00000431261.2_Silent_p.E437E|VWA9_ENST00000313182.2_Silent_p.E516E|VWA9_ENST00000567744.1_Silent_p.E552E|VWA9_ENST00000442903.3_Silent_p.E480E|VWA9_ENST00000569491.1_Silent_p.E466E					von Willebrand factor A domain containing 9																		TTCAAATTCTTTCAGTGCTGC	0.453000													45	58					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791002	133791002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133791002C>T	ENST00000321016.8	-	18	2848	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R873H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	873						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCTCGATGCGCCTGCTCTT	0.662000													36	47					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18926165	18926165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18926165G>A	ENST00000379942.4	-	22	3035	c.2370C>T	c.(2368-2370)agC>agT	p.S790S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	790					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCC	0.517000													26	179					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912286	32912286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912286G>A	ENST00000544455.1	+	11	4021	c.3794G>A	c.(3793-3795)tGt>tAt	p.C1265Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C1265Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1265					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGTAAATGTCATGATTCT	0.279000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	16					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992683	67992683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992683G>A	ENST00000397942.3	+	2	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R260H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	260					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTGGGAGGGCGCGCTTTCCCC	0.547000													29	40					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409126	30409126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409126C>A	ENST00000320159.2	+	2	931	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGTCCCGGATCCCTGCTGGTG	0.607000													14	48					6.31663e-08	7.49729e-08	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176017138	176017138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176017138C>A	ENST00000510636.1	+	25	3540	c.3266C>A	c.(3265-3267)tCt>tAt	p.S1089Y	CDHR2_ENST00000506348.1_Missense_Mutation_p.S1089Y|CDHR2_ENST00000261944.5_Missense_Mutation_p.S1089Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1089					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACATAGATTCTGCAGCTCGG	0.582000													122	160					6.25825e-54	8.46681e-54	1	1	0
NEIL3	55247	broad.mit.edu	37	4	178283482	178283482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178283482C>T	ENST00000264596.3	+	10	1793	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	559					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATGGCAAGCGTTCCACCAT	0.373000								Base excision repair (BER), DNA glycosylases					26	54					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13238070	13238070	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13238070T>G	ENST00000337630.6	-	6	813	c.746A>C	c.(745-747)aAg>aCg	p.K249T	GSG1_ENST00000432710.2_Missense_Mutation_p.K262T|GSG1_ENST00000457134.2_Missense_Mutation_p.K198T|GSG1_ENST00000537302.1_Missense_Mutation_p.K221T|GSG1_ENST00000324458.8_Missense_Mutation_p.K285T|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000396310.2_Missense_Mutation_p.K218T|GSG1_ENST00000351606.6_3'UTR	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	272						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGGTTTTCCTTGAAGCTCTT	0.557000													19	21					0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50379074	50379074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50379074C>T	ENST00000231749.3	-	11	2450	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R388H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	393						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAAGCACAGCGGGGCCGCTC	0.587000										TSP Lung(30;0.18)			15	26					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2547099	2547099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2547099C>T	ENST00000567020.1	+	2	1090	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TBC1D24_ENST00000293970.5_Missense_Mutation_p.T317I|TBC1D24_ENST00000434757.2_Missense_Mutation_p.T317I|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.T317I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	317					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AAGGGCATCACCGTGAAGCAG	0.632000													6	45					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958410	57958410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958410G>A	ENST00000311591.3	+	1	505	c.448G>A	c.(448-450)Gtt>Att	p.V150I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGGGGCTTACGTTGCTGGTTT	0.527000													28	42					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363273	11363273	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11363273C>T	ENST00000379261.4	+	11	1271	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	CELF2_ENST00000427450.1_Silent_p.Y375Y|CELF2_ENST00000354440.2_Silent_p.Y375Y|CELF2_ENST00000542579.1_Silent_p.Y406Y|CELF2_ENST00000416382.2_Silent_p.Y393Y|CELF2_ENST00000399850.3_Silent_p.Y375Y|CELF2_ENST00000537122.1_Silent_p.Y288Y|CELF2_ENST00000315874.3_Silent_p.Y375Y|CELF2_ENST00000417956.2_Silent_p.Y373Y|CELF2_ENST00000354897.3_Silent_p.Y387Y|CELF2_ENST00000450189.1_Silent_p.Y406Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	393	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTCAACAGTACGCAGCCGCCG	0.652000													5	39					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178433521	178433521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178433521C>T	ENST00000448150.3	+	15	4146	c.3328C>T	c.(3328-3330)Cta>Tta	p.L1110L	RASAL2_ENST00000367649.3_Silent_p.L1121L|RASAL2_ENST00000462775.1_Silent_p.L980L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGCAAAATCTAGATGAAGC	0.458000													14	27					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242402851	242402851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242402851C>T	ENST00000264042.3	+	16	1949	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	FARP2_ENST00000545004.1_Silent_p.F593F|FARP2_ENST00000373287.4_Silent_p.F593F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	593	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.F593L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACAGAGGCTTCCTGCGCGAGG	0.587000													25	20					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032574	8032574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8032574C>T	ENST00000407627.2	-	5	660	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000351593.5_Silent_p.E204E|ELAVL1_ENST00000596459.1_Silent_p.E177E	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	177	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTGATGGGCTCAGAGGAAC	0.557000													18	29					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999605	144999605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144999605G>A	ENST00000322810.4	-	31	5072	c.4903C>T	c.(4903-4905)Cgc>Tgc	p.R1635C	PLEC_ENST00000354589.3_Missense_Mutation_p.R1498C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1498C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1476C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1484C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1502C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1521C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1525C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1466C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1635	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCGCAAGCGCTCGGCCTCC	0.731000													4	8					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270140	45270140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45270140A>G	ENST00000372201.4	+	12	1711	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	491	POLO box 1.		D -> N (in dbSNP:rs17855444).			membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAACGATGGCACACAT	0.557000													20	48					0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174919203	174919203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:174919203G>A	ENST00000321442.5	+	2	351	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SFXN1_ENST00000502393.1_Missense_Mutation_p.D33N	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	33					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACTGTAACTGACCCCAGGAA	0.388000													6	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587650	179587650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587650C>T	ENST00000589042.1	-	76	22200	c.21976G>A	c.(21976-21978)Gtt>Att	p.V7326I	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6082I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V7009I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7009	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCGTAACAAAATAAGGC	0.403000													5	17					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74300191	74300191	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74300191G>A	ENST00000377044.4	-	24	4613	c.4074C>T	c.(4072-4074)gaC>gaT	p.D1358D	TMEM2_ENST00000396272.3_Silent_p.D351D|TMEM2_ENST00000377066.5_Silent_p.D1295D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1358						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCATATTCGTCCAGCTGCA	0.463000													38	51					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242287575	242287575	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242287575A>G	ENST00000391973.2	+	11	1481	c.953A>G	c.(952-954)aAa>aGa	p.K318R	SEPT2_ENST00000402092.2_Missense_Mutation_p.K318R|SEPT2_ENST00000360051.3_Missense_Mutation_p.K318R|SEPT2_ENST00000407971.1_Missense_Mutation_p.K278R|SEPT2_ENST00000401990.1_Missense_Mutation_p.K328R|SEPT2_ENST00000391971.2_Missense_Mutation_p.K318R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	318					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GACATGAATAAAGACCAGATC	0.373000													10	82					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109714636	109714636	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109714636G>A	ENST00000369939.3	+	4	798		c.e4+1		KIAA1324_ENST00000529753.1_Splice_Site	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324						macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGAGTTTTTCGTAAGCCCCTG	0.507000													40	107					0	0	1	0	0
AC104534.3	0	broad.mit.edu	37	19	39328286	39328286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39328286G>A	ENST00000594769.1	-	4	412	c.413C>T	c.(412-414)gCg>gTg	p.A138V	HNRNPL_ENST00000600873.1_Silent_p.C388C|HNRNPL_ENST00000221419.5_Silent_p.C521C																							CCAGCTCATCGCAGATCTGCA	0.493000													4	28					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124080282	124080282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:124080282C>T	ENST00000306315.5	-	1	836	c.401G>A	c.(400-402)gGc>gAc	p.G134D		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	134						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527000													24	31					0	0	1	0	0
IGHG1	0	broad.mit.edu	37	14	106207926	106207926	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207926G>A	ENST00000390548.2	-	0	876																											TCCACGGTGAGCTTGCTGTAG	0.592000													37	109					0	0	1	0	0
TRAV27	0	broad.mit.edu	37	14	22616465	22616465	+	RNA	SNP	C	C	T	rs34071112		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22616465C>T	ENST00000390457.2	+	0	303																											ACAGTAGTTACGGGTGGAGAA	0.488000													16	29					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40998181	40998181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40998181C>T	ENST00000244565.3	-	8	1368	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.G427D	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	427	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGTCATTGCCGGTGATGCT	0.577000													15	24					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43013610	43013610	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43013610C>T	ENST00000587309.1	-	2	126	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KIF18B_ENST00000593135.1_Missense_Mutation_p.E35K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E35K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E44K|KIF18B_ENST00000339151.4_Missense_Mutation_p.E35K	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCACCCGCTCGTCCACCACC	0.647000													3	5					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370528	1370528	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1370528A>G	ENST00000402301.1	+	5	459	c.423A>G	c.(421-423)gcA>gcG	p.A141A	LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGTTAGTAGCAGCCCTGGCCC	0.582000													11	17					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63113990	63113990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:63113990C>T	ENST00000228705.6	-	6	1334	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	345	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCTTCTTTCCAAGCTCCTT	0.453000													10	104					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57746275	57746275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57746275C>T	ENST00000269122.3	+	14	2540	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	CLTC_ENST00000393043.1_Missense_Mutation_p.P756S|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	756	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTACGATCCTGAGCGAGT	0.413000			T	"""ALK, TFE3"""	"""ALCL, renal """								11	42					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060704	111060704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060704C>T	ENST00000369771.2	-	1	1093	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	236						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGCAGTGTCTCCAGGCAGAAG	0.562000													8	76					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736384	51736384	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736384A>G	ENST00000293636.1	-	4	341	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	101	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCGCTGTTCCAGTATGGATGC	0.582000													11	85					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9532104	9532104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9532104G>A	ENST00000352665.5	+	9	1210	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	WDR16_ENST00000299764.5_Missense_Mutation_p.D391N|WDR16_ENST00000396219.3_Missense_Mutation_p.D313N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	381						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGCATCGACTTCATGAG	0.527000													15	35					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58193639	58193639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58193639G>A	ENST00000537081.1	-	18	2263	c.2264C>T	c.(2263-2265)gCa>gTa	p.A755V	TSFM_ENST00000543727.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.A762V|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron			O75366	AVIL_HUMAN	advillin	762	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAACAGAACTGCTATAGGGTA	0.453000													6	139					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140773751	140773751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773751C>A	ENST00000398604.2	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCTCCTACTCAGCGTATA	0.522000													3	22					0.115264	0.117355	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20110344	20110344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000265801.6_Silent_p.Y366Y|LZTS1_ENST00000522290.1_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642000													18	18					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118577331	118577331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:118577331T>C	ENST00000263239.2	+	3	605	c.477T>C	c.(475-477)gaT>gaC	p.D159D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	159							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATGAAGATGAGAGTGAGG	0.403000											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	21					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600228	31600228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31600228C>T	ENST00000376033.2	+	16	4012	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	PRRC2A_ENST00000376007.4_Silent_p.L1260L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1260	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTCCGGAGGCTGAAGCAGGA	0.622000													6	58					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875949	247875949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247875949G>T	ENST00000302084.2	-	1	156	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAACTGTGAGGATGTACATC	0.468000													59	93					3.53049e-34	4.7453e-34	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101247437	101247437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101247437A>C	ENST00000369162.2	-	7	1483	c.1139T>G	c.(1138-1140)cTt>cGt	p.L380R	ASCC3_ENST00000522650.1_Missense_Mutation_p.L380R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTCAGAAGTGCCTGTTC	0.378000													4	44					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665036	95665036	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95665036A>G	ENST00000324972.6	+	13	1580	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T446A|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T443A|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T426A|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T426A|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T446A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	463					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAGGAAGGTACAGTCTACAC	0.448000													139	111					0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78971129	78971129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78971129C>T	ENST00000325167.5	+	6	561	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	161					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGAGCTGAGCGCAATCACTC	0.627000													13	4					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042025	42042025	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042025C>T	ENST00000219905.7	+	17	6401	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C	MGA_ENST00000389936.4_Missense_Mutation_p.R2035C|MGA_ENST00000566586.1_Missense_Mutation_p.R1865C|MGA_ENST00000570161.1_Missense_Mutation_p.R2074C|MGA_ENST00000545763.1_Missense_Mutation_p.R1865C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2035						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCTAGGAATCGTAAGAGTTC	0.378000													25	40					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835998	61835998	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61835998A>G	ENST00000280772.1	-	37	4832	c.4641T>C	c.(4639-4641)tcT>tcC	p.S1547S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1547	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGATTGGAGAAGGTGTCG	0.448000													16	129					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150586	117150586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117150586G>A	ENST00000369486.3	-	5	1965	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IGSF3_ENST00000369483.1_Silent_p.I400I|IGSF3_ENST00000318837.6_Silent_p.I400I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	400						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTATGATGGGGATGTTCTTGG	0.512000													6	100					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99048353	99048353	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99048353G>T	ENST00000436336.2	+	5	593	c.432G>T	c.(430-432)cgG>cgT	p.R144R	CPSF4_ENST00000441580.1_Silent_p.R91R|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.R112R|CPSF4_ENST00000292476.5_Silent_p.R144R|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	144					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCACACACGGAGAGTCATCT	0.572000													5	95					0.00307968	0.00325696	1	1	0
KAT8	84148	broad.mit.edu	37	16	31131666	31131666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31131666G>A	ENST00000543774.2	+	4	628	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	KAT8_ENST00000448516.2_Missense_Mutation_p.R98Q|KAT8_ENST00000219797.4_Missense_Mutation_p.R98Q			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R98Q(1)									ACAGTTAACCGGCGGCTGGAC	0.577000													19	36					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231582	6231582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6231582C>T	ENST00000316375.2	+	2	625	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	192										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCATTACCTGTTGCCTTC	0.567000													7	87					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30766567	30766567	+	Missense_Mutation	SNP	G	G	A	rs140264936	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30766567G>A	ENST00000405659.1	+	5	1382	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A225T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	225										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACGCATGCGCCAGCGTCCA	0.612000													14	48					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971015C>A	ENST00000543253.1	+	5	2137	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	GPRASP2_ENST00000535209.1_Silent_p.I406I|GPRASP2_ENST00000332262.5_Silent_p.I406I	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547000													8	89					0.000673444	0.000724755	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237550	33237550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33237550C>T	ENST00000401073.2	+	6	2840	c.2770C>T	c.(2770-2772)Cct>Tct	p.P924S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P876S|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P865S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	865	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCCCAGTGCCTGCCCCCTC	0.706000													4	7					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60749358	60749358	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60749358G>T	ENST00000303375.5	+	8	1708		c.e8-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCCCCAGAGGTGGAGGA	0.557000													5	84					3.59834e-05	4.01776e-05	1	1	0
IRF8	3394	broad.mit.edu	37	16	85942776	85942776	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942776A>C	ENST00000268638.5	+	3	777	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	IRF8_ENST00000563180.1_Missense_Mutation_p.K119Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	119					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGAGCAAAAATGTAACTA	0.493000													3	28					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692609	47692609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47692609C>A	ENST00000397708.1	-	9	2585	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E777D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	777					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGTCATGTTCTCATTATTGA	0.527000													52	76					3.19069e-20	4.18589e-20	1	1	0
OR52D1	390066	broad.mit.edu	37	11	5510000	5510000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5510000G>T	ENST00000322641.5	+	1	86	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGATCCCAGGGCTGGAGGC	0.488000													6	91					3.59834e-05	4.01776e-05	1	1	0
PPP2CA	5515	broad.mit.edu	37	5	133536734	133536734	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133536734G>T	ENST00000481195.1	-	4	798	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATCTATAGATGGCGAGAG	0.373000													29	48					3.11337e-16	4.01248e-16	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2051688	2051688	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2051688G>A	ENST00000563630.1	-	6	986	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF598_ENST00000562103.1_Silent_p.G248G|ZNF598_ENST00000431526.1_Silent_p.G303G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	303						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTAGTCTTCGCCACCAACGA	0.692000													9	14					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475278	33475278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33475278C>A	ENST00000265371.4	-	15	2726	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	NRP1_ENST00000374867.2_Missense_Mutation_p.G734V|NRP1_ENST00000395995.1_Missense_Mutation_p.G734V			O14786	NRP1_HUMAN	neuropilin 1	734	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGAGTGTGCCGACGTGGGA	0.572000													19	23					6.94344e-10	8.49476e-10	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493000													8	62					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592827	101592827	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101592827T>C	ENST00000310954.6	-	8	1747	c.1461A>G	c.(1459-1461)tcA>tcG	p.S487S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	487					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCCATTATATGATTCAGATA	0.338000													14	35					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839649	22839649	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22839649T>G	ENST00000376573.4	-	7	959	c.731A>C	c.(730-732)aAg>aCg	p.K244T	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104T|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	244	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AATATAAATCTTTTGGCCCTC	0.363000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	126					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000544974.2_Silent_p.S35S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323000													26	28					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35046375	35046375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35046375G>A	ENST00000360359.3	+	14	2363	c.2225G>A	c.(2224-2226)gGc>gAc	p.G742D	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	742	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGGGACATCGGCATCAGCGAC	0.657000													4	91					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6171834	6171834	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6171834C>T	ENST00000262450.3	-	36	5349		c.e36+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAAGGATACGTCACGATGC	0.647000													5	24					0	0	1	0	0
USP16	0	broad.mit.edu	37	21	30426427	30426427	+	Silent	SNP	C	C	T	rs146396744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30426427C>T	ENST00000334352.4	+	19	2622	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	USP16_ENST00000399976.2_Silent_p.S797S|USP16_ENST00000399975.3_Silent_p.S796S|USP16_ENST00000535828.1_Silent_p.S426S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	797					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTCACATCAGCGACACACATG	0.338000													24	52					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133111381	133111381	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133111381T>A	ENST00000275227.4	-	3	310	c.214A>T	c.(214-216)Atc>Ttc	p.I72F	SLC18B1_ENST00000367918.1_Missense_Mutation_p.I72F|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	72					transmembrane transport	integral to membrane											ATCATACCGATAATTGTATTG	0.308000													4	3					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451107	155451107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451107C>T	ENST00000461783.3	+	6	2023	c.750C>T	c.(748-750)taC>taT	p.Y250Y	TIAM2_ENST00000456144.1_Silent_p.Y250Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.Y250Y|TIAM2_ENST00000529824.2_Silent_p.Y250Y|TIAM2_ENST00000318981.5_Silent_p.Y250Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	250					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCCTGGTACGACTCCCCTT	0.662000													19	48					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444766	63444766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63444766G>A	ENST00000453546.1	-	10	1979	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	ASB12_ENST00000396130.2_Silent_p.L246L|ASB12_ENST00000362002.2_Silent_p.L255L			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTCAAGGGAGAGAGATGGAA	0.507000													8	20					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456617	27456617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27456617G>A	ENST00000264705.4	+	21	3502	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	CAD_ENST00000403525.1_Missense_Mutation_p.A1051T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1114	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTGAGCAGCGCAGCAGCCGT	0.607000													23	35					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710515	233710515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710515G>T	ENST00000373566.3	+	27	3642	c.3445G>T	c.(3445-3447)Gga>Tga	p.G1149*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G1148*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G1121*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G1149*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G1127*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G1127*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1127					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTCTTTCAGGGAGTAAATAA	0.398000													4	78					0.150653	0.152692	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46791594	46791594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46791594G>A	ENST00000529230.1	-	26	3287	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	CKAP5_ENST00000354558.3_Missense_Mutation_p.P1081S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1081S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1081S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1081					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTTGGCTGGCATGTTAACT	0.443000													9	113					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032932	41032932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41032932C>T	ENST00000380620.3	+	5	1038	c.446C>T	c.(445-447)gCg>gTg	p.A149V	B3GALT5_ENST00000380618.1_Missense_Mutation_p.A149V|B3GALT5_ENST00000398714.2_Missense_Mutation_p.A149V|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A149V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	149					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTCCTCAGGCGGCGTTTGTG	0.448000													32	43					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74123458	74123458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74123458G>T	ENST00000370336.4	+	12	1604	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	482	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTTCTACAGAGTATGTCAT	0.343000													28	47					6.38683e-12	7.9998e-12	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25480710	25480710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480710A>G	ENST00000381884.4	-	7	1651	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	CENPJ_ENST00000545981.1_Missense_Mutation_p.I489T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	489					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCAAATTTGATCTGGTCTCT	0.398000													6	82					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742904	54742904	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577000													10	19					3.07112e-06	3.52574e-06	1	1	0
YIPF4	84272	broad.mit.edu	37	2	32530576	32530576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32530576G>A	ENST00000238831.3	+	6	862	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	206						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTGTTTTGGGCTGCCTACAG	0.328000													26	45					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57577605	57577605	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57577605A>T	ENST00000524630.1	+	15	2955	c.2442A>T	c.(2440-2442)cgA>cgT	p.R814R	CTNND1_ENST00000530094.1_Silent_p.R713R|CTNND1_ENST00000534579.1_Silent_p.R760R|CTNND1_ENST00000528232.1_Silent_p.R719R|CTNND1_ENST00000529526.1_Silent_p.R760R|CTNND1_ENST00000428599.2_Silent_p.R814R|CTNND1_ENST00000399039.4_Silent_p.R820R|CTNND1_ENST00000399050.4_Silent_p.R820R|CTNND1_ENST00000415361.2_Silent_p.R719R|CTNND1_ENST00000529919.1_Silent_p.R820R|CTNND1_ENST00000525902.1_Silent_p.R497R|CTNND1_ENST00000529873.1_Silent_p.R760R|CTNND1_ENST00000531014.1_Silent_p.R491R|CTNND1_ENST00000358694.6_Silent_p.R814R|CTNND1_ENST00000532787.1_Silent_p.R713R|CTNND1_ENST00000426142.2_Silent_p.R713R|CTNND1_ENST00000532649.1_Silent_p.R760R|CTNND1_ENST00000532844.1_Silent_p.R766R|CTNND1_ENST00000529986.1_Silent_p.R713R|CTNND1_ENST00000361332.4_Silent_p.R814R|CTNND1_ENST00000532463.1_Silent_p.R713R|CTNND1_ENST00000528621.1_Silent_p.R760R|CTNND1_ENST00000533667.1_Silent_p.R491R|CTNND1_ENST00000526357.1_Silent_p.R760R|CTNND1_ENST00000526938.1_Silent_p.R820R|CTNND1_ENST00000361391.6_Silent_p.R814R|CTNND1_ENST00000532245.1_Silent_p.R713R|CTNND1_ENST00000361796.4_Silent_p.R814R|CTNND1_ENST00000530748.1_Silent_p.R766R|CTNND1_ENST00000360682.6_Silent_p.R820R|CTNND1_ENST00000527467.1_Silent_p.R497R|CTNND1_ENST00000526772.1_Silent_p.R491R			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	820					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGAAGTTCGAGCAGCAGCAC	0.398000													9	36					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37387530	37387530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37387530T>C	ENST00000405091.2	-	6	988	c.737A>G	c.(736-738)gAt>gGt	p.D246G	TEX33_ENST00000381821.1_Missense_Mutation_p.D246G|TEX33_ENST00000402860.3_Missense_Mutation_p.D161G			O43247	EAN57_HUMAN	testis expressed 33	246																	ACCCAGATCATCCGTCTTCCT	0.547000													12	104					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241904950	241904950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241904950C>A	ENST00000366552.2	+	11	1631	c.1424C>A	c.(1423-1425)tCt>tAt	p.S475Y	WDR64_ENST00000437684.2_Missense_Mutation_p.S475Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	475										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTATCTGCTCTGAATCCATA	0.318000													10	26					2.17888e-05	2.45068e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179590617	179590617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179590617G>A	ENST00000589042.1	-	70	20656	c.20432C>T	c.(20431-20433)tCc>tTc	p.S6811F	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5567F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6494F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6494	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTTTGGATGCAATCTT	0.433000													22	19					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984748	33984748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33984748C>T	ENST00000262325.7	+	14	2480	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	AP2B1_ENST00000592545.1_Missense_Mutation_p.P605S|AP2B1_ENST00000537622.2_Missense_Mutation_p.P643S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P586S|AP2B1_ENST00000312678.8_Missense_Mutation_p.P643S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P643S|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	643	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGTCAATGTGCCACAGGTGTC	0.488000													17	36					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125448918	125448918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125448918C>T	ENST00000278903.6	+	7	757	c.515C>T	c.(514-516)gCt>gTt	p.A172V	EI24_ENST00000343678.4_Missense_Mutation_p.A172V|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	172					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAAATAATTGCTGACATGCTC	0.433000													2	1					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10502251	10502251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10502251G>A	ENST00000222005.2	-	8	1166	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	371					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.G371G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	52					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86965612	86965612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86965612C>T	ENST00000234701.3	+	15	2980	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P877S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	877					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GACACCTAGTCCTGATGAAAC	0.408000													97	93					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493974	100493974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493974G>A	ENST00000395996.1	+	25	3925	c.3814G>A	c.(3814-3816)Gct>Act	p.A1272T	VPS13B_ENST00000358544.2_Missense_Mutation_p.A1272T|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1272T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1272					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGCACAGCTCCTCCAGA	0.453000													28	43					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2666211	2666211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2666211A>G	ENST00000320876.6	+	2	580	c.242A>G	c.(241-243)gAa>gGa	p.E81G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E81G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	81					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTAGGAAAGAAATTACCTGT	0.259000													5	8					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35210528	35210528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35210528G>A	ENST00000156471.5	-	15	1498	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	425						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGATACAAAGGCATCTGGTTC	0.368000													19	36					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11507938	11507938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11507938C>T	ENST00000380456.3	-	18	2059	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.V672I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	666	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCAGGAAGGACTTGAAAGAGC	0.642000													6	116					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544169	186544169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544169T>C	ENST00000431808.1	-	14	2965	c.2402A>G	c.(2401-2403)tAc>tGc	p.Y801C	SORBS2_ENST00000418609.1_Missense_Mutation_p.Y705C|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y801C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y901C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	801						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATTCTGGTAGGGTGGACA	0.612000													36	71					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708454	131708454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131708454G>A	ENST00000372586.3	-	1	1444	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	377					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAAGTAGCGCACATACTCC	0.522000													37	62					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177288	170177288	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170177288G>A	ENST00000263816.3	-	2	471	c.187_splice	c.e2+1	p.C62_splice	LRP2_ENST00000443831.1_Splice_Site_p.C62_splice	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	62	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCACTTACCGCAGCCAATTT	0.488000													24	31					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293769C>T	ENST00000243326.4	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	463					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338000													5	69					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152421	133152421	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133152421G>A	ENST00000388996.4	-	11	1890	c.1470C>T	c.(1468-1470)gcC>gcT	p.A490A	KCNQ3_ENST00000519445.1_Silent_p.A490A|KCNQ3_ENST00000521134.1_Silent_p.A370A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	490					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTGTCCCGGCATCTGGGA	0.602000													13	15					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83940604	83940604	+	Missense_Mutation	SNP	G	G	A	rs147617160	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83940604G>A	ENST00000262430.4	+	2	560	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	181					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AATGAATGGGGTGCTGAAAGG	0.473000													36	70					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74631731	74631731	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74631731G>T	ENST00000253159.8	+	20	3466		c.e20-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATTTTGTGTAGACATTTGTAT	0.373000													21	83					1.2644e-06	1.46818e-06	1	1	0
ABCC5	10057	broad.mit.edu	37	3	183677558	183677558	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183677558T>C	ENST00000334444.6	-	17	2685	c.2445A>G	c.(2443-2445)ggA>ggG	p.G815G	ABCC5_ENST00000265586.6_Silent_p.G815G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	815						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTTACTGATCCTGTTTTAG	0.328000													36	50					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644948	39644948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39644948C>A	ENST00000393986.2	-	3	550	c.338G>T	c.(337-339)aGg>aTg	p.R113M	KRT36_ENST00000328119.6_Missense_Mutation_p.R163M			O76013	KRT36_HUMAN	keratin 36	163	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGACCAGCCTGGCATTCTC	0.577000													8	61					3.09899e-07	3.63227e-07	1	1	0
POT1	25913	broad.mit.edu	37	7	124493083	124493083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124493083T>C	ENST00000357628.3	-	10	1410	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	POT1_ENST00000393329.1_Missense_Mutation_p.Y140C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	271	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCCGACCGTAACTGGTACC	0.348000													6	59					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75585056	75585056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75585056G>A	ENST00000423381.1	-	16	1259	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000444854.2_Silent_p.R147R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.A358V|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000322680.3_Missense_Mutation_p.A347V	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CTGCAAGGGCGCGGGCTCTTG	0.587000													24	54					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307115	43307115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43307115G>A	ENST00000361428.2	-	10	4698	c.4621C>T	c.(4621-4623)Ccc>Tcc	p.P1541S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1541	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGAGAGGGGTGGTGGAGGA	0.488000													4	41					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42305084	42305084	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42305084T>C	ENST00000396169.2	-	4	944	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CCK_ENST00000434608.1_Silent_p.V13V|CCK_ENST00000334681.5_Silent_p.V13V	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	13					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGCCGCCAGTACCGCCATCA	0.687000													10	6					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919215	21919215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21919215C>A	ENST00000240662.2	-	3	1062	c.717G>T	c.(715-717)gaG>gaT	p.E239D	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	239						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TAGGAACCACCTCCCCTTCAG	0.478000													16	43					1.99824e-07	2.35189e-07	1	1	0
EFNA1	1942	broad.mit.edu	37	1	155103872	155103872	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155103872C>T	ENST00000368407.3	+	2	668	c.150C>T	c.(148-150)atC>atT	p.I50I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I50I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	50					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGACATCATCTGTCCGCACT	0.537000													20	35					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173681	207173681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207173681G>A	ENST00000374423.3	+	5	4815	c.4429G>A	c.(4429-4431)Gac>Aac	p.D1477N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1477							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGAGGCAGACCTTCAGAA	0.373000													8	13					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41012745	41012745	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41012745C>A	ENST00000399564.4	-	30	3525	c.3075G>T	c.(3073-3075)aaG>aaT	p.K1025N	MROH2B_ENST00000506092.2_Missense_Mutation_p.K580N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCCACAGGCCTTTGTACAAG	0.448000													29	46					4.74835e-14	6.04786e-14	1	1	0
DDX27	55661	broad.mit.edu	37	20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47850160G>A	ENST00000371764.4	+	11	1289	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557000													36	85					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47640456	47640456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47640456C>A	ENST00000302503.3	-	13	998	c.841G>T	c.(841-843)Gga>Tga	p.G281*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.G133*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	281					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGCTATTTCCTCGGCTCATA	0.413000													6	111					0.00198382	0.00210581	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208596	53208596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53208596C>T	ENST00000543227.1	-	6	1986	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	ZNF611_ENST00000319783.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.C502Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.C502Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTCTTGCTGCACTCATTACA	0.408000													79	136					0	0	1	0	0
SPN	0	broad.mit.edu	37	16	29676225	29676225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29676225C>T	ENST00000360121.3	+	2	1268	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Silent_p.P392P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	392					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGATGAGCCCGAAGGGGGAG	0.642000													5	20					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808768	23808768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23808768T>C	ENST00000354639.3	+	12	1966	c.1502T>C	c.(1501-1503)gTa>gCa	p.V501A	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.V501A|STK31_ENST00000355870.3_Missense_Mutation_p.V524A|STK31_ENST00000433467.2_Missense_Mutation_p.V524A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACCGTCTTGTAGCATGGTTC	0.378000													39	94					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864408	4864408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4864408G>T	ENST00000379333.1	-	9	1096	c.704C>A	c.(703-705)cCt>cAt	p.P235H	SLC23A2_ENST00000338244.1_Missense_Mutation_p.P235H|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	235					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAGAGCCCCAGGCAGGCCGAG	0.577000													7	70					3.09899e-07	3.63227e-07	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33575077	33575077	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33575077C>T	ENST00000262873.7	+	14	1352	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	378	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGAGGCCGATGGCACTG	0.562000													44	59					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12034842	12034842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12034842G>A	ENST00000196061.4	+	19	2188	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	PLOD1_ENST00000376369.3_Missense_Mutation_p.A768T	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	721	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGCTACATCGCAGTCTCCTT	0.622000													29	39					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207006690	207006690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207006690G>A	ENST00000233190.5	-	12	1503	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	NDUFS1_ENST00000455934.2_Silent_p.L427L|NDUFS1_ENST00000440274.1_Silent_p.L377L|NDUFS1_ENST00000423725.1_Silent_p.L356L|NDUFS1_ENST00000432169.1_Silent_p.L302L|NDUFS1_ENST00000449699.1_Silent_p.L413L|NDUFS1_ENST00000457011.1_Silent_p.L297L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	413					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATTAAACAGTGGTGCCTCA	0.328000													19	39					0	0	1	0	0
NHLRC3	387921	broad.mit.edu	37	13	39622004	39622004	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39622004G>A	ENST00000379600.3	+	7	1307	c.985G>A	c.(985-987)Gca>Aca	p.A329T	NHLRC3_ENST00000379599.2_Missense_Mutation_p.A262T|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A132T	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	329						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AGAAATTGGAGCAAAACAAGT	0.393000													4	59					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145664218	145664218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145664218C>T	ENST00000265271.5	+	20	3188	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCGTCGGCTACAGAT	0.373000													29	71					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231653	94231653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94231653C>A	ENST00000544612.1	+	3	1172	c.675C>A	c.(673-675)ctC>ctA	p.L225L	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.L225L	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	225					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCACTACCTCTTTGAAATTG	0.398000													9	106					9.70103e-10	1.18443e-09	1	1	0
CCDC65	85478	broad.mit.edu	37	12	49298804	49298804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49298804C>T	ENST00000266984.5	+	2	435	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.R70W			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	70										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTGTCCTTCGGGAAGTCAA	0.448000													32	39					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146266768	146266768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146266768G>A	ENST00000367503.3	-	8	1725	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SHPRH_ENST00000438092.2_Missense_Mutation_p.R443C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R443C|SHPRH_ENST00000367505.2_Missense_Mutation_p.R443C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	443	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCACACGTGTAGCTAAA	0.313000													11	19					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867382	6867382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6867382G>T	ENST00000299454.4	+	1	500	c.469G>T	c.(469-471)Gct>Tct	p.A157S	OR10A5_ENST00000379831.2_Missense_Mutation_p.A161S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTCCTGTAGCTACTGTGCA	0.542000													44	56					2.68985e-26	3.58274e-26	1	1	0
WDR33	55339	broad.mit.edu	37	2	128480179	128480179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128480179C>T	ENST00000322313.4	-	14	1662	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	502					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGAACTGAGCAGGAATGGGT	0.418000													8	131					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217814	134217814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134217814C>T	ENST00000359579.4	+	4	730	c.410C>T	c.(409-411)aCg>aTg	p.T137M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	137					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAAAAGCAACGTTCTTGGAT	0.463000													45	135					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893163	27893163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27893163G>A	ENST00000307201.4	-	1	992	c.822C>T	c.(820-822)gcC>gcT	p.A274A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	274						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGGCAGGCCGGCCTCGAACC	0.667000													7	18					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56720656A>G	ENST00000425394.2	-	7	1383	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	PAN2_ENST00000548043.1_Missense_Mutation_p.F336S|PAN2_ENST00000257931.5_Missense_Mutation_p.F336S|PAN2_ENST00000440411.3_Missense_Mutation_p.F336S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557000													25	57					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805417	7805417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7805417G>T	ENST00000229304.4	-	3	79	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	20					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAACTCCCAGGGTTCGATTCT	0.463000													5	41					0.00198382	0.00210581	1	1	0
NAA16	79612	broad.mit.edu	37	13	41943238	41943238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41943238C>T	ENST00000379406.3	+	15	2090	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	589					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTGTCAGCCAAAGAATTG	0.338000													18	51					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26383931	26383931	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383931A>G	ENST00000242729.2	+	3	831	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SSPN_ENST00000422622.2_Silent_p.K115K|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000540266.1_Silent_p.K115K|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	218					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGATGTGGAAACATAGGTACC	0.488000													33	48					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248346	75248346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75248346C>T	ENST00000325680.7	+	4	1724	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P534S|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTACAATGCCCCCTCCAGT	0.532000													51	73					0	0	1	0	0
CDV3	55573	broad.mit.edu	37	3	133306798	133306798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133306798G>A	ENST00000264993.3	+	5	1000	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CDV3_ENST00000508481.1_Missense_Mutation_p.E127K|CDV3_ENST00000515421.1_Intron|CDV3_ENST00000420115.2_3'UTR	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	229					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AGGTAGGGATGAGGTTTCAAA	0.368000													41	66					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451209	155451209	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451209C>T	ENST00000461783.3	+	6	2125	c.852C>T	c.(850-852)ggC>ggT	p.G284G	TIAM2_ENST00000456144.1_Silent_p.G284G|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.G284G|TIAM2_ENST00000529824.2_Silent_p.G284G|TIAM2_ENST00000318981.5_Silent_p.G284G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	284					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCCACCTGGCGATGCCAAAA	0.622000													6	50					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44149371	44149371	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44149371T>C	ENST00000372396.3	+	12	1885	c.1751T>C	c.(1750-1752)aTg>aCg	p.M584T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	584					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGAATACATGTTTTCCCTA	0.468000													5	65					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614141	158614141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158614141G>A	ENST00000368148.3	-	30	4420	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1414C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1414					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473000													23	45					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633164	24633164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24633164G>T	ENST00000396864.3	+	5	860	c.573G>T	c.(571-573)caG>caT	p.Q191H	IRF9_ENST00000557894.1_Missense_Mutation_p.Q89H|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	191					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGAGCCACAGGAAGGTACCA	0.607000													8	61					0.00448238	0.00472561	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160994116	160994116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160994116G>T	ENST00000283249.2	-	10	1726	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	ITGB6_ENST00000409872.1_Missense_Mutation_p.L497M|ITGB6_ENST00000428609.2_Missense_Mutation_p.L455M|ITGB6_ENST00000409967.2_Missense_Mutation_p.L497M			P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGTGCTCAGCATGTCCTCG	0.607000													6	44					3.59834e-05	4.01776e-05	1	1	0
ZBTB49	166793	broad.mit.edu	37	4	4303755	4303755	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4303755T>C	ENST00000337872.4	+	3	313	c.192T>C	c.(190-192)gtT>gtC	p.V64V	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.V64V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGAATGATGTTTTTCACTTGG	0.363000													7	66					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124285903	124285903	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124285903G>A	ENST00000409039.3	+	15	2209	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	728	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGTCTGTGCTTCTCAAAG	0.443000													12	144					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54975618	54975618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54975618C>T	ENST00000375006.3	-	9	953	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.G230S	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	295	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GAGCTGATGCCCTGGGACTGA	0.572000													14	12					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106090834	106090834	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106090834G>T	ENST00000390543.2	-	0	962																											GAGACAGGGAGAGGCTCTTCT	0.622000													9	142					3.09899e-07	3.63227e-07	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95394638	95394638	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95394638G>A	ENST00000371447.3	+	9	1381	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	415	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAAACCTTTCGATGAGCATGA	0.363000													23	21					0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32688215	32688215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32688215C>T	ENST00000373586.1	+	2	152	c.80C>T	c.(79-81)aCt>aTt	p.T27I	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	27						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCTCTTTACTGTGGCCAAG	0.587000													22	33					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445621	42445621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42445621C>T	ENST00000381668.5	-	33	3315	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	ATP8A1_ENST00000264449.10_Silent_p.L1013L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1028					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCAGGCCACAGAGATGAGT	0.438000													9	15					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74468752	74468752	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74468752G>T	ENST00000437994.2	+	7	1189		c.e7+1		CD109_ENST00000287097.5_Splice_Site|CD109_ENST00000422508.2_Splice_Site	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACGGCAAAGTAAGTGTCAT	0.313000													7	21					1.06961e-07	1.26574e-07	1	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559863	44559863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559863C>A	ENST00000332567.4	-	1	2125	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	591	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGAAGTCCTGGAAACAAT	0.512000													7	70					0.00198382	0.00210581	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6515250	6515250	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515250C>A	ENST00000361413.3	-	8	1892	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	512						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTCTTGCTGGCGCCAGA	0.443000													65	123					1.08241e-25	1.44005e-25	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95418727	95418727	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95418727A>G	ENST00000371447.3	+	17	2244	c.2106A>G	c.(2104-2106)aaA>aaG	p.K702K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	702					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAGCCATCAAATATGTAACTG	0.318000													6	53					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122726544C>T	ENST00000227348.4	+	5	679	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368000													24	29					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741970	98741970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741970C>T	ENST00000286067.2	+	1	930	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	275										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTTTCACCTCGAAAAGAACC	0.522000													5	74					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570881	61570881	+	Silent	SNP	C	C	T	rs146046369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61570881C>T	ENST00000577647.1	+	9	1320	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	ACE_ENST00000413513.3_Silent_p.Y425Y|ACE_ENST00000290863.6_Silent_p.Y425Y|ACE_ENST00000490216.2_Silent_p.Y425Y|ACE_ENST00000421982.2_Silent_p.Y245Y|ACE_ENST00000428043.1_Silent_p.Y999Y|ACE_ENST00000290866.4_Silent_p.Y999Y			P12821	ACE_HUMAN	angiotensin I converting enzyme	999	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCATGCAGTACAAAGACTTAC	0.572000													5	68					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549097	23549097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549097C>A	ENST00000262710.1	-	6	1948	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	ACIN1_ENST00000605057.1_Nonsense_Mutation_p.G483*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.G501*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.G541*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	541					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGTGATTCCTTTGGCCAGT	0.483000													7	111					0.0293803	0.0301098	1	1	0
CEP135	9662	broad.mit.edu	37	4	56858237	56858237	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56858237G>T	ENST00000257287.4	+	15	2119	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	665					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAACAGAGGTGAACTCAC	0.328000													15	26					7.07596e-05	7.86387e-05	1	1	0
ADAM19	8728	broad.mit.edu	37	5	156917318	156917318	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156917318C>A	ENST00000257527.4	-	19	2318	c.2240_splice	c.e19+1	p.S747_splice	ADAM19_ENST00000430702.2_Splice_Site_p.S480_splice|ADAM19_ENST00000517905.1_Splice_Site_p.S747_splice|ADAM19_ENST00000394020.1_Splice_Site_p.S749_splice	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	747					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTCATACCTGAACTGTTG	0.478000													4	62					0.014758	0.0152625	1	1	0
PCDHA6	0	broad.mit.edu	37	5	140209564	140209564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209564G>A	ENST00000529310.1	+	1	2002	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.662000													7	65					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195480103	195480103	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195480103T>C	ENST00000463781.3	-	20	15788		c.e20-2		MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site|MUC4_ENST00000346145.4_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCCAGAGCTGCAGAGTGAG	0.612000													25	59					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41372072	41372072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41372072G>A	ENST00000361937.3	-	9	1382	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INO80_ENST00000401393.3_Nonsense_Mutation_p.R320*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	320	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGGCAGCTCGACGCACCTCC	0.517000													63	74					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381941	41381941	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41381941T>G	ENST00000377801.3	-	2	873	c.799A>C	c.(799-801)Aca>Cca	p.T267P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T267P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	267					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGATTGTTTCTCTGAGG	0.408000													24	41					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71209551	71209551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71209551C>T	ENST00000319023.2	+	20	2235	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	NADSYN1_ENST00000530055.1_Nonsense_Mutation_p.Q312*|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.Q423*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	683	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGCCTTGGCAGTTTCGGTG	0.473000													6	67					0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670687	156670687	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156670687A>C	ENST00000368222.3	-	2	382	c.228T>G	c.(226-228)acT>acG	p.T76T	CRABP2_ENST00000368221.1_Silent_p.T76T	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	76					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCCATCCACAGTCTGCTCCT	0.537000													18	46					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47242464	47242464	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242464G>T	ENST00000371941.3	-	40	4961	c.4937_splice	c.e40-1	p.L1647_splice	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1647					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGTAGAGGCTGGGGATG	0.582000													4	5					0.217242	0.218821	1	1	0
CNDP2	55748	broad.mit.edu	37	18	72180853	72180853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72180853G>A	ENST00000324262.4	+	8	1118	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CNDP2_ENST00000579847.1_Missense_Mutation_p.A268T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A184T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	268						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCCGTGGCCGCCGTCACGGA	0.597000													20	23					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46292287	46292287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46292287G>A	ENST00000359930.4	-	16	2988	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	SULF2_ENST00000484875.1_Missense_Mutation_p.R713C|SULF2_ENST00000361612.4_Missense_Mutation_p.R713C|SULF2_ENST00000467815.1_Missense_Mutation_p.R713C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	713					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTGCAGGCGCTTGAGCAGC	0.607000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	66					0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121259697	121259697	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121259697G>A	ENST00000392865.1	-	5	494	c.432C>T	c.(430-432)acC>acT	p.T144T	RGS10_ENST00000369103.2_Silent_p.T158T|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369101.3_Silent_p.T150T	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	150	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CCTCTTCCTCGGTTCGCTTGT	0.423000													40	53					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45870074	45870074	+	Nonsense_Mutation	SNP	C	C	A	rs146835760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45870074C>A	ENST00000296135.6	-	8	808	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.E195*|LZTFL1_ENST00000539217.1_Nonsense_Mutation_p.E208*	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	212										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACAGTGTTTTCTAAGTTACTT	0.358000													30	56					1.7881e-09	2.17656e-09	1	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151196880	151196880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151196880T>C	ENST00000368888.4	+	3	576	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	52					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTACATCTCATTGGTAGGCTA	0.289000													22	168					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4163079	4163079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4163079A>G	ENST00000305958.4	+	5	1178	c.953A>G	c.(952-954)gAg>gGg	p.E318G	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E318G	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	318					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGAGTGCGAGGACTGTGAG	0.632000													7	35					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696030	67696030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67696030G>A	ENST00000458121.2	+	3	609	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	PARD6A_ENST00000219255.3_Missense_Mutation_p.R174Q|PARD6A_ENST00000602551.1_Missense_Mutation_p.R144Q	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	174	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCTACATCCGAGATGGCATG	0.627000													28	52					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10045094	10045094	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10045094A>G	ENST00000263663.5	+	9	1102	c.914A>G	c.(913-915)aAc>aGc	p.N305S	TAF1B_ENST00000396242.3_Missense_Mutation_p.N50S	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	305					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCATCCCAACATACTGTGT	0.383000													34	55					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	rs151003082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60701095C>T	ENST00000005286.4	+	8	1594	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R480C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711000													12	14					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176965998	176965998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176965998G>A	ENST00000443375.2	-	3	1580	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Missense_Mutation_p.L121F			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	0										kidney(1)|large_intestine(3)	4						TCGCCTAGGAGATTCTTGACG	0.552000													20	42					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228506846	228506846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228506846C>T	ENST00000570156.2	+	65	17338	c.17264C>T	c.(17263-17265)gCt>gTt	p.A5755V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2432V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1917V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4798V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4798V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4798	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGAGATGCTGACCTCTCA	0.647000													11	15					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55212718C>A	ENST00000447346.2	+	15	2130	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.L547I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	657					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527000													6	64					8.12818e-05	8.99451e-05	1	1	0
S1PR3	1903	broad.mit.edu	37	9	91616912	91616912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91616912A>G	ENST00000375846.3	+	1	5492	c.797A>G	c.(796-798)gAt>gGt	p.D266G	S1PR3_ENST00000358157.2_Missense_Mutation_p.D266G			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	266					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCCTCATTGATGTGGCCTGC	0.587000													7	39					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1909168	1909168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1909168T>C	ENST00000382722.5	-	33	3334	c.2972A>G	c.(2971-2973)gAg>gGg	p.E991G	CACNA2D4_ENST00000538450.1_Missense_Mutation_p.E121G|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.E136G|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E966G|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E991G|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E927G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	991						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCACTCACCCTCGGCCCCTCT	0.602000													5	6					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802362	185802362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:185802362C>T	ENST00000302277.6	+	4	2833	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	747			H -> R (in dbSNP:rs12477430).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATATGAAACACATGAGTCA	0.328000													19	40					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41347563	41347563	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41347563C>A	ENST00000361937.3	-	18	2495		c.e18-1		INO80_ENST00000401393.3_Splice_Site			Q9ULG1	INO80_HUMAN	INO80 complex subunit						cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGCCCAAAGCTGTAAACAAA	0.353000													7	30					0.000157383	0.00017284	1	1	0
PEG3	5178	broad.mit.edu	37	19	57333113	57333113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57333113G>A	ENST00000326441.9	-	7	938	c.575C>T	c.(574-576)cCg>cTg	p.P192L	ZIM2_ENST00000593711.1_Missense_Mutation_p.P67L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P67L|PEG3_ENST00000423103.2_Missense_Mutation_p.P192L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P67L|PEG3_ENST00000598410.1_Missense_Mutation_p.P67L|ZIM2_ENST00000391708.3_Missense_Mutation_p.P67L|PEG3_ENST00000593695.1_Missense_Mutation_p.P66L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P67L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	192					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGATCCCGCGGAGGCATCCC	0.552000													58	67					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922633	43922633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43922633G>A	ENST00000329196.5	+	1	378	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	121						integral to membrane	aspartic-type endopeptidase activity										GCTGCTCATCGTGAGCCGGGT	0.652000													13	19					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716414	35716414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716414G>A	ENST00000373866.3	+	6	812	c.790G>A	c.(790-792)Gca>Aca	p.A264T	ARMC12_ENST00000288065.2_Missense_Mutation_p.A291T|ARMC12_ENST00000373869.3_Missense_Mutation_p.A254T			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	264							binding										GGGCCGGAACGCACCCCACTA	0.557000													24	44					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124922226	124922226	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124922226A>G	ENST00000368865.4	+	7	1062	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.S285G|BUB3_ENST00000538238.1_Missense_Mutation_p.S205G|BUB3_ENST00000481952.1_3'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTTGCCTTCAGTAATGATGG	0.433000													13	78					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26110133	26110133	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26110133C>A	ENST00000313735.6	-	6	701		c.e6-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TATTTTTGCCCTGGGGGACAG	0.483000													18	45					1.87028e-06	2.164e-06	1	1	0
PDGFD	80310	broad.mit.edu	37	11	103870925	103870925	+	Silent	SNP	G	G	A	rs148454316	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870925G>A	ENST00000302251.5	-	2	616	c.165C>T	c.(163-165)aaC>aaT	p.N55N	PDGFD_ENST00000393158.2_Silent_p.N61N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	61	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488000													13	142					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179943	166179943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166179943G>A	ENST00000357398.3	+	12	2239	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	SCN2A_ENST00000375437.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.C650Y			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	650					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGACTGCAATGGTGTG	0.592000													11	23					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20955878	20955878	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20955878C>A	ENST00000261383.3	-	58	11450	c.11451G>T	c.(11449-11451)ctG>ctT	p.L3817L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3817					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCCCTCAAACAGCTGGTTGG	0.552000													4	74					0.00909568	0.00947522	1	1	0
PEX6	5190	broad.mit.edu	37	6	42934528	42934528	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42934528C>A	ENST00000304611.8	-	9	2022	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	PEX6_ENST00000244546.4_Missense_Mutation_p.K651N	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	651					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACCCTGAGTTCTTGATCCTGG	0.572000													10	257					2.80697e-09	3.39963e-09	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25789846	25789846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25789846C>A	ENST00000399878.3	-	13	2339	c.2217_splice	c.e13+1	p.K739_splice	SEL1L3_ENST00000502949.1_Splice_Site_p.K586_splice|SEL1L3_ENST00000264868.5_Splice_Site_p.K704_splice	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	739						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGATTCTTACCTTGAATAGCA	0.493000													51	101					4.33383e-22	5.71668e-22	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11319682	11319682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11319682C>T	ENST00000294618.7	-	38	4860	c.4849G>A	c.(4849-4851)Gcc>Acc	p.A1617T	DOCK6_ENST00000319867.7_Missense_Mutation_p.A956T|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1617	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCACTGGGCGGCCTCGGCG	0.692000													3	7					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616977	86616977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86616977C>T	ENST00000325875.3	+	3	1408	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	359					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTAATACTACGAATAACTTT	0.323000													31	34					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743262	156743262	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156743262A>C	ENST00000275820.3	+	1	846	c.831A>C	c.(829-831)gaA>gaC	p.E277D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	277	Glu-rich.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		aggaagcagaagcgcagagcg	0.542000													9	8					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36107125	36107125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36107125G>A	ENST00000211287.4	+	12	1335	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	MAPK13_ENST00000373761.6_Missense_Mutation_p.R348Q|MAPK13_ENST00000373766.5_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	358					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AAGGACTCACGGCGCCGGAGT	0.552000													28	24					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304141	6304141	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304141C>T	ENST00000226760.1	+	8	2789	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_ENST00000503569.1_Silent_p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	873					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617000													14	14					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52369229	52369229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52369229G>A	ENST00000257963.4	+	2	349	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACVR1B_ENST00000415850.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R39H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R91H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	91					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GAGGACCTGCGCAACACCCAC	0.597000													12	25					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157670	32157670	+	Splice_Site	SNP	T	T	C	rs2228554		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32157670T>C	ENST00000373672.3	-	17	1711		c.e17-2		COL16A1_ENST00000271069.6_Splice_Site|COL16A1_ENST00000373668.3_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTCTGGCCCTGGGGAAGGAA	0.642000													24	51					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343970	43343970	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43343970G>A	ENST00000344686.2	-	0	2617				MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGCTTCGAGCCTCGGCC	0.607000													43	78					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052040	9052040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9052040G>A	ENST00000382496.5	-	20	3455	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	930	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTCCCGGAGCACTGGCTGC	0.552000													16	17					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361761	62361761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62361761G>T	ENST00000278823.2	-	17	2200	c.1811C>A	c.(1810-1812)cCt>cAt	p.P604H	MTA2_ENST00000524902.1_Missense_Mutation_p.P431H|MTA2_ENST00000527204.1_Missense_Mutation_p.P431H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	604					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAACACCACAGGATTGGGGGC	0.562000													12	31					9.31168e-06	1.06029e-05	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100166439	100166439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100166439G>A	ENST00000261835.3	+	5	547		c.e5+1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGCCGGAGGTGAGTGTGGC	0.632000													8	21					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528784	157528784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528784C>T	ENST00000346085.5	+	20	6510	c.6509C>T	c.(6508-6510)gCc>gTc	p.A2170V	ARID1B_ENST00000350026.5_Missense_Mutation_p.A2157V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A2152V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2210V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2157					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCACGATGGCCCAGTACCAG	0.572000													34	39					0	0	1	0	0
SGK223	0	broad.mit.edu	37	8	8185546	8185546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8185546C>T	ENST00000520004.1	-	5	3010	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	SGK223_ENST00000330777.4_Missense_Mutation_p.A916T			Q86YV5	SG223_HUMAN		916							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGATGAGGCGGAGGGGGCC	0.667000													18	33					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242024777	242024777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:242024777C>T	ENST00000366548.3	+	10	1607	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EXO1_ENST00000348581.5_Silent_p.I338I|EXO1_ENST00000518483.1_Silent_p.I338I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	338	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTGAACAGATCGATGACTACA	0.343000								Editing and processing nucleases					6	63					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468291	164468291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:164468291C>A	ENST00000333129.3	-	3	365	c.51G>T	c.(49-51)gaG>gaT	p.E17D	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	17						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGGGCATGCTCTGGCGTCC	0.478000													19	34					1.00905e-13	1.28195e-13	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33637791	33637791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33637791C>A	ENST00000252015.2	-	6	624	c.535G>T	c.(535-537)Gga>Tga	p.G179*	TRPC4AP_ENST00000451813.1_Nonsense_Mutation_p.G179*|TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.G140*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	179	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTGTAACTCCCTCTGTCTGT	0.368000													5	56					0.0215528	0.0221649	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	13185034	13185034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185034C>A	ENST00000379345.2	+	5	474	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	221						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCAGTGTCTGAAGAGAGT	0.572000													6	73					8.12818e-05	8.99451e-05	1	1	0
PRMT6	55170	broad.mit.edu	37	1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:107599821C>A	ENST00000361318.5	+	1	555	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PRMT6_ENST00000370078.1_Missense_Mutation_p.L162M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652000													23	65					6.44725e-10	7.89499e-10	1	1	0
MMP12	4321	broad.mit.edu	37	11	102736621	102736621	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736621T>C	ENST00000532855.1	-	0	1186							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCTCTTGGGATAATTTGGCTC	0.318000													17	29					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79060602	79060602	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79060602C>A	ENST00000388820.4	-	17	2729		c.e17-1		ADAMTS7_ENST00000566303.1_Splice_Site	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCTGCACACCTAGGGGCCAC	0.647000													3	14					0.004672	0.0049138	1	1	0
GAK	2580	broad.mit.edu	37	4	864679	864679	+	Missense_Mutation	SNP	C	C	T	rs140022645	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:864679C>T	ENST00000314167.4	-	19	2178	c.2068G>A	c.(2068-2070)Gcg>Acg	p.A690T	GAK_ENST00000511163.1_Missense_Mutation_p.A611T|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	690	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTCACACGCGTCCAGGTCA	0.512000													19	31					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938559	2938559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938559C>T	ENST00000378404.2	+	1	514	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	103						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGAAACCCAGCGACCAGCCCC	0.597000													23	35					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63156443	63156443	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63156443C>A	ENST00000449996.3	+	4	370	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.L100I|RGS9_ENST00000262406.9_Missense_Mutation_p.L100I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	100	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGATGGCAGCCTCTACAGATT	0.473000													4	73					0.000602214	0.000649039	1	1	0
ZNF812	729648	broad.mit.edu	37	19	9801183	9801183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9801183G>T	ENST00000457674.2	-	5	1514	c.996C>A	c.(994-996)caC>caA	p.H332Q	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TACACTGATAGTGTTTCTCTC	0.418000													12	63					2.80697e-09	3.39963e-09	1	1	0
SV2C	22987	broad.mit.edu	37	5	75621360	75621360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75621360G>T	ENST00000502798.2	+	13	2614	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	724					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CACGAACCCAGGTTCTGATGT	0.517000													27	37					2.12542e-12	2.67336e-12	1	1	0
IL34	146433	broad.mit.edu	37	16	70694006	70694006	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70694006G>A	ENST00000429149.2	+	7	1200	c.645G>A	c.(643-645)ccG>ccA	p.P215P	IL34_ENST00000566361.1_Silent_p.P190P|IL34_ENST00000288098.2_Silent_p.P215P	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGTACCCTCCGCCCCCGTGGT	0.662000													49	63					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473900	6473900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473900G>A	ENST00000382599.4	-	1	273	c.57C>T	c.(55-57)agC>agT	p.S19S	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	19					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGTCACATAGCTGTGGTCCC	0.647000													28	55					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208201469	208201469	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208201469C>A	ENST00000367033.3	-	31	6231	c.5474G>T	c.(5473-5475)aGt>aTt	p.S1825I	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1825					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCTGGTCACTGATGGCTGG	0.567000													7	155					0.0381472	0.0390147	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144943428	144943428	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943428A>C	ENST00000525985.1	-	2	4065	c.3994T>G	c.(3994-3996)Tct>Gct	p.S1332A				P58107	EPIPL_HUMAN	epiplakin 1	1332						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCCCTAGAGTAGGGATCT	0.682000													27	34					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403000													40	57					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544532	53544532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53544532T>C	ENST00000371500.3	+	10	1778	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P356P|PODN_ENST00000312553.5_Silent_p.P498P	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	450					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGGCTGCCTCGAAATGTCC	0.672000													4	19					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43629308	43629308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:43629308G>A	ENST00000332857.6	-	2	230	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTCCGCCTCCGCCCTACTGGA	0.542000													39	120					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487396	31487396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31487396G>A	ENST00000394863.3	+	8	908	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A243T|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A243T|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A243T	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CTGTTCCACCGCCCTGGGAGG	0.657000													32	27					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	612999	612999	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612999C>A	ENST00000397566.1	-	8	1804	c.1395_splice	c.e8+1	p.K465_splice	IRF7_ENST00000330243.5_Splice_Site_p.K465_splice|IRF7_ENST00000397570.1_Splice_Site_p.K423_splice|IRF7_ENST00000397574.2_Splice_Site_p.K452_splice|IRF7_ENST00000348655.6_Splice_Site_p.K423_splice|IRF7_ENST00000397562.3_Splice_Site_p.K159_splice|IRF7_ENST00000525445.1_Splice_Site_p.K346_splice	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	452					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTCTCACCTTCACCAGGA	0.652000													11	80					0.000673444	0.000724755	1	1	0
ANKRD13A	88455	broad.mit.edu	37	12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110461861G>A	ENST00000261739.4	+	7	911	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	249										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTAAATCCGGATTCTGGGG	0.348000													20	216					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068486	48068486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48068486C>T	ENST00000297325.4	-	1	209	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.C17Y	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	17						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTTCAGAGCAACGTCTAAA	0.483000													5	101					0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50122474	50122474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50122474C>T	ENST00000539565.2	-	10	983	c.765G>A	c.(763-765)gaG>gaA	p.E255E	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.E281E|POLE2_ENST00000216367.5_Silent_p.E281E	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	281					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATCTTTATTCTCCTCTTCTA	0.333000													81	137					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185684330	185684330	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185684330G>A	ENST00000515030.1	-	16	1837	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ACSL1_ENST00000437665.3_Silent_p.G333G|ACSL1_ENST00000281455.2_Silent_p.G504G|ACSL1_ENST00000513317.1_Silent_p.G504G|ACSL1_ENST00000507295.1_Silent_p.G470G|ACSL1_ENST00000454703.2_Silent_p.G333G|ACSL1_ENST00000504342.1_Silent_p.G504G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGCCCTCGCCCTCGGCAG	0.478000													12	23					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340257	90340257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90340257G>A	ENST00000369408.5	+	15	1962	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	ANKRD6_ENST00000522441.1_Missense_Mutation_p.R573K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R573K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R568K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R509K|LYRM2_ENST00000520441.1_Intron	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	573							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTACCCAGAGACTCCAGCAG	0.567000													9	17					0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52470943	52470943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470943G>A	ENST00000336854.4	+	4	1104	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	209					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACCACCATGCGCAGGCTCATC	0.567000													19	27					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89936342	89936342	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89936342C>A	ENST00000389297.4	+	20	2644	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C7orf63_ENST00000497910.1_Missense_Mutation_p.S780Y|C7orf63_ENST00000316089.8_Missense_Mutation_p.S752Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	798							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGTTGCTTCTCTGCAAAGT	0.338000													22	20					2.21704e-12	2.7869e-12	1	1	0
HSPB11	51668	broad.mit.edu	37	1	54395798	54395798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54395798G>A	ENST00000194214.5	-	3	508	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPB11_ENST00000371376.1_Missense_Mutation_p.T40I|HSPB11_ENST00000371377.3_Missense_Mutation_p.T40I|HSPB11_ENST00000371378.2_Missense_Mutation_p.T40I	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	40					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCCTGTGGTGGTCCAAAACGT	0.294000													35	58					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28537431	28537431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28537431G>A	ENST00000381020.7	-	3	2895	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	255	Poly-Gln.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTGgctgctgctgctgttgc	0.552000			T	ETV6	AML								16	12					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120714	12120714	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120714C>A	ENST00000379388.2	+	4	1018	c.686C>A	c.(685-687)aCt>aAt	p.T229N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	229					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAAATAAAACTGCACGTTCC	0.428000													10	104					0.00621372	0.00652201	1	1	0
WDR88	126248	broad.mit.edu	37	19	33666397	33666397	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33666397C>T	ENST00000355868.3	+	11	1414	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	446										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACAAGGGGCTTGCCAGCAG	0.517000													51	45					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46812059	46812059	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46812059T>A	ENST00000529230.1	-	14	1771	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	CKAP5_ENST00000354558.3_Missense_Mutation_p.K575N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K575N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K575N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	575					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCCAGTCCTTTCTTGTTCT	0.443000													28	52					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37442057	37442057	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37442057G>A	ENST00000307750.4	-	2	680	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTGCTCCTCGCCATTCTGGC	0.602000													22	45					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167563	8167563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167563C>A	ENST00000402384.3	-	13	1536	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ICA1_ENST00000265577.7_Missense_Mutation_p.G423C|ICA1_ENST00000401396.1_Missense_Mutation_p.G412C|ICA1_ENST00000406470.2_Missense_Mutation_p.G424C|ICA1_ENST00000422063.2_Missense_Mutation_p.G453C|ICA1_ENST00000396675.3_Missense_Mutation_p.G424C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	424					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGAAGGAAACCTGAGCCTGTC	0.527000													59	154					5.73376e-24	7.59946e-24	1	1	0
SLC2A11	66035	broad.mit.edu	37	22	24220040	24220040	+	Silent	SNP	C	C	T	rs145179201	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24220040C>T	ENST00000345044.6	+	6	937	c.669C>T	c.(667-669)acC>acT	p.T223T	SLC2A11_ENST00000316185.8_Silent_p.T226T|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Silent_p.T230T|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	223						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGGAGACACCGAGGCCTGCC	0.637000													3	11					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391863	139391863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139391863C>T	ENST00000277541.6	-	34	6403	c.6328G>A	c.(6328-6330)Gtg>Atg	p.V2110M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2110					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCAGCCTCACGATGTCGTGA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	40					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644437	6644437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6644437C>T	ENST00000299441.3	-	21	8881	c.8470G>A	c.(8470-8472)Gaa>Aaa	p.E2824K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2824	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCACCTTCGGGCACTTGG	0.587000													4	7					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263907	120263907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120263907C>A	ENST00000369407.3	+	1	1658	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	PHGDH_ENST00000369409.4_Missense_Mutation_p.L85M			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	85					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAATGTGGATCTGGAGGCCGC	0.582000													37	58					1.69901e-12	2.13862e-12	1	1	0
ABCA2	20	broad.mit.edu	37	9	139911711	139911711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139911711C>T	ENST00000265662.5	-	18	2637	c.2490G>A	c.(2488-2490)atG>atA	p.M830I	ABCA2_ENST00000341511.6_Missense_Mutation_p.M830I|ABCA2_ENST00000371605.3_Missense_Mutation_p.M829I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	829					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGCCACGTACATGTAGGGCA	0.647000													5	56					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662938	10662938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10662938A>G	ENST00000309469.4	+	9	1353	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	ATG4D_ENST00000540862.1_Missense_Mutation_p.T61A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	394					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAAGCTGTACCGTGGGCTT	0.612000													11	23					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145386	16145386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145386C>T	ENST00000349606.4	+	5	1047	c.543C>T	c.(541-543)agC>agT	p.S181S	MYLIP_ENST00000356840.3_Silent_p.S362S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	362	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACTGCAGCAGCTGCGAGGGCC	0.572000													7	103					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574503	169574503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574503C>T	ENST00000316428.5	-	4	702	c.645G>A	c.(643-645)ggG>ggA	p.G215G	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.G159G|LRRC31_ENST00000523069.1_Silent_p.G215G	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	215										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCAGAAATGTCCCATCTTCTG	0.403000													16	35					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959722	53959722	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959722G>T	ENST00000454407.1	+	0	2414							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACATAGGAGAATTCATACT	0.398000													6	74					1.12685e-05	1.27857e-05	1	1	0
SLC25A40	55972	broad.mit.edu	37	7	87476301	87476301	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476301G>A	ENST00000341119.5	-	8	940	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	198					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGGAGCCCAGCCCCTCCAAA	0.388000													98	94					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26493197	26493197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26493197C>T	ENST00000381340.3	-	56	8338	c.7922G>A	c.(7921-7923)aGt>aAt	p.S2641N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2641					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTGCTCACTGTCGCCTTC	0.493000													4	38					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115881	54115881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54115881G>A	ENST00000548263.1	-	5	585	c.537C>T	c.(535-537)agC>agT	p.S179S	CALCOCO1_ENST00000262059.4_Silent_p.S179S|CALCOCO1_ENST00000430117.2_Silent_p.S146S|CALCOCO1_ENST00000550804.1_Silent_p.S179S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	179	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTCGGCTCCTCAGCT	0.602000													7	61					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932899	36932899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36932899G>T	ENST00000373103.1	-	16	2519	c.1972C>A	c.(1972-1974)Ctc>Atc	p.L658I	CSF3R_ENST00000331941.5_Missense_Mutation_p.L658I|CSF3R_ENST00000361632.4_Missense_Mutation_p.L658I|CSF3R_ENST00000373104.1_Missense_Mutation_p.L658I|CSF3R_ENST00000338937.5_Silent_p.P626P|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.L658I|CSF3R_ENST00000373106.1_Missense_Mutation_p.L658I|CSF3R_ENST00000440588.2_Missense_Mutation_p.L658I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	658					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGCCAGAGGGGATTCTTC	0.587000													7	139					5.18039e-06	5.91835e-06	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215793456	215793456	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215793456G>A	ENST00000259154.4	+	18	2238	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	648						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTCCATGAGGCCTTACAGAG	0.403000													26	31					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396215	54396215	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54396215C>T	ENST00000303450.4	+	2	610	c.538_splice	c.e2-1	p.S180_splice	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Splice_Site_p.S180_splice	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCCCTCCAGGCAACCCCGTGG	0.582000													27	58					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979069	51979069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51979069C>T	ENST00000417220.2	+	7	1178	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PARP3_ENST00000431474.1_Silent_p.F230F|PARP3_ENST00000398755.3_Silent_p.F237F			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	230	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACGGGGTTTCGAGGCCTTGG	0.617000													21	57					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93540498	93540498	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93540498T>G	ENST00000394196.4	+	30	4818	c.3750T>G	c.(3748-3750)tgT>tgG	p.C1250W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1250W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1250					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTAACCTGTCGTGTCAAAG	0.403000													4	84					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630736	12630736	+	Missense_Mutation	SNP	G	G	T	rs144222400	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630736G>T	ENST00000228862.2	-	7	1660	c.1029C>A	c.(1027-1029)gaC>gaA	p.D343E	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	343					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		AGGTAGCAGAGTCGGCACAGG	0.632000													4	43					0.00024832	0.0002712	1	1	0
PRR23C	389152	broad.mit.edu	37	3	138763115	138763115	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138763115G>A	ENST00000413199.1	-	1	619	c.348C>T	c.(346-348)ggC>ggT	p.G116G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G116G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	116										breast(2)|lung(7)|skin(2)	11						CAGACCAGTCGCCCTGCGCTC	0.632000													4	5					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242097264	242097264	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242097264A>T	ENST00000234038.6	+	3	698	c.224A>T	c.(223-225)gAc>gTc	p.D75V	PPP1R7_ENST00000404405.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.D16V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.D75V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.D32V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.D32V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	75						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATCAACCTGGACAGAGATGCA	0.473000													9	13					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30557550	30557550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30557550C>A	ENST00000448418.2	-	3	661	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	MPPED2_ENST00000358117.5_Missense_Mutation_p.D101Y	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	101					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCTAACCAGTCATTAAACTTC	0.498000													7	27					0.000157383	0.00017284	1	1	0
ATP7B	540	broad.mit.edu	37	13	52544631	52544631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52544631C>T	ENST00000242839.4	-	3	1696	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	ATP7B_ENST00000344297.5_Missense_Mutation_p.A514T|ATP7B_ENST00000418097.2_Missense_Mutation_p.A514T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.A482T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A403T|ATP7B_ENST00000448424.2_Missense_Mutation_p.A514T|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	514	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTTACCAGCTTCTTTCTGC	0.463000									Wilson disease				11	116					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140249195	140249195	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249195C>A	ENST00000398640.2	+	1	507	c.507C>A	c.(505-507)acC>acA	p.T169T	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATTGACCTACAGGCTAA	0.388000													14	134					6.31663e-08	7.49729e-08	1	1	0
ACKR3	57007	broad.mit.edu	37	2	237489831	237489831	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489831G>A	ENST00000272928.3	+	2	1033	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.A241A(1)									CCATCTCGGCGTCCAGTGACC	0.592000													29	40					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15964861	15964861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15964861G>T	ENST00000480945.1	+	5	863	c.692G>T	c.(691-693)gGc>gTc	p.G231V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	231					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAAGTTTTGGCCAAGTAGTG	0.418000													78	116					4.03997e-35	5.43481e-35	1	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64708943C>T	ENST00000338957.4	+	1	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	77							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502000													30	57					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79700587	79700587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79700587T>C	ENST00000275034.4	-	20	2484	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATATGTACCTTTGAGACAGTG	0.303000													4	41					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484507	36484507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36484507C>T	ENST00000342292.4	-	11	4965	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1649						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCAGGGGCCGACCGCTTCT	0.542000													5	85					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171575	106171575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171575C>T	ENST00000541806.1	+	2	636	c.117C>T	c.(115-117)agC>agT	p.S39S	CLDN2_ENST00000336803.1_Silent_p.S39S|CLDN2_ENST00000540876.1_Silent_p.S39S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	39					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCGGTGCCAGCATTGTGACAG	0.552000													38	60					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17946267	17946267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946267G>A	ENST00000381254.2	+	4	666	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.C151Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	151	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCGATGGCTGCCTCACCAAT	0.458000								Homologous recombination					39	62					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608017	42608017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42608017C>A	ENST00000359486.3	-	1	3431	c.3295G>T	c.(3295-3297)Gac>Tac	p.D1099Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D1099Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCAGTCTTTATACTCC	0.512000													11	55					3.07112e-06	3.52574e-06	1	1	0
SERPINB10	5273	broad.mit.edu	37	18	61597398	61597398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61597398G>T	ENST00000238508.3	+	6	669	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAACACCACAGAAAAGCCTTT	0.373000													12	102					5.50884e-06	6.28354e-06	1	1	0
ZNF319	0	broad.mit.edu	37	16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652000													34	25					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258291	56258291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56258291G>A	ENST00000327216.2	-	1	580	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAACAAGCCAGCTTAATCAGT	0.453000													9	74					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552240	102552240	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552240G>T	ENST00000334701.7	-	4	1031	c.750C>A	c.(748-750)atC>atA	p.I250I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Silent_p.I128I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	128					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAATCATAGAGATATCTGCAC	0.438000													10	71					3.07112e-06	3.52574e-06	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121698887	121698887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121698887T>C	ENST00000393386.2	+	28	6973	c.6562T>C	c.(6562-6564)Tgt>Cgt	p.C2188R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C1321R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2188	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCACTTTCAGTGTCCTAAATG	0.368000													9	85					0	0	1	0	0
FTSJD2	0	broad.mit.edu	37	6	37429388	37429388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37429388C>T	ENST00000373451.4	+	11	1323	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	FTSJD2_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		387					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GCTTCTGTGTCAGTTCCTCAT	0.552000													13	37					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087934	86087934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86087934C>T	ENST00000330753.4	+	2	843	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L26F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	26					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCTGGGGCTCTACTCACA	0.507000													35	41					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57760372	57760372	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57760372T>C	ENST00000269122.3	+	24	4144	c.3870T>C	c.(3868-3870)taT>taC	p.Y1290Y	CLTC_ENST00000393043.1_Silent_p.Y1290Y|CLTC_ENST00000579456.1_Silent_p.Y227Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACTACTATCAGGTATTAA	0.368000			T	"""ALK, TFE3"""	"""ALCL, renal """								6	85					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965817	18965817	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18965817G>A	ENST00000262803.5	+	10	1667	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	UPF1_ENST00000599848.1_Silent_p.A476A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	476					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTTCACGGCGCAGGGCCTCC	0.672000													17	40					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105677256	105677256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105677256C>T	ENST00000224950.3	-	2	264	c.97G>A	c.(97-99)Gat>Aat	p.D33N	OBFC1_ENST00000369764.1_Missense_Mutation_p.D33N|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	33					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCAGGATATCCCTGATGTAG	0.562000													23	29					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723882	128723882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128723882C>T	ENST00000371113.4	+	23	2695	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R836*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	844	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGCATTCCTTCGAGAACTCTT	0.423000													14	151					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41107959	41107959	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41107959C>T	ENST00000299174.5	-	4	440	c.372_splice	c.e4-1	p.A125_splice	PPP1R14D_ENST00000427255.2_Splice_Site_p.R163_splice	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	125					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGATAAAAGCCTGAGGGAGA	0.562000													14	14					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28592603	28592603	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28592603C>T	ENST00000380982.4	-	20	2623	c.2542G>A	c.(2542-2544)Gtg>Atg	p.V848M	FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Intron			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	847	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCACATTGCCCCTG	0.423000			"""Mis, O"""		"""AML, ALL"""								14	35					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48563643	48563643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48563643G>A	ENST00000537810.1	-	33	4311	c.3707C>T	c.(3706-3708)cCg>cTg	p.P1236L	FRYL_ENST00000507711.1_Missense_Mutation_p.P1236L|FRYL_ENST00000503238.1_Missense_Mutation_p.P1236L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.P1236L			O94915	FRYL_HUMAN	FRY-like	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACATCTTCGGTTCCAGAAT	0.338000													28	37					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117109762	117109762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117109762C>T	ENST00000531452.1	+	3	599	c.553C>T	c.(553-555)Cga>Tga	p.R185*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.R185*|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	185							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGAAGGAGTCCGAGTGGATCA	0.443000													39	46					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129422	46129422	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46129422A>T	ENST00000371383.2	-	5	1335	c.1075T>A	c.(1075-1077)Ttc>Atc	p.F359I	ENPP5_ENST00000230565.3_Missense_Mutation_p.F359I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	359						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCTTTCTGAAGGCAGGACCA	0.418000													31	347					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940270	144940270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940270C>A	ENST00000525985.1	-	2	7223	c.7152G>T	c.(7150-7152)aaG>aaT	p.K2384N				P58107	EPIPL_HUMAN	epiplakin 1	2384						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAAGAAGCCCTTGGTGTCGT	0.647000													19	220					1.96292e-10	2.41709e-10	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8233806	8233806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8233806C>T	ENST00000539824.1	+	13	3200	c.2826C>T	c.(2824-2826)tgC>tgT	p.C942C	SH3TC1_ENST00000245105.3_Silent_p.C1018C			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1018							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGGCCTGCAAGGTGGCCG	0.662000													20	26					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099322	34099322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34099322C>T	ENST00000397527.1	+	35	7916	c.7196C>T	c.(7195-7197)gCc>gTc	p.A2399V	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGCCGTGGCCCAGGCCCCT	0.632000													18	39					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29344862	29344862	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29344862C>A	ENST00000343067.4	+	7	1159	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EPB41_ENST00000398863.2_Silent_p.L344L|EPB41_ENST00000373798.1_Silent_p.L344L|EPB41_ENST00000349460.4_Silent_p.L135L|EPB41_ENST00000373797.1_Silent_p.L344L|EPB41_ENST00000347529.3_Silent_p.L309L|EPB41_ENST00000373800.3_Silent_p.L135L|EPB41_ENST00000356093.2_Silent_p.L344L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	344	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCCAGAACTCCATGGCGTGG	0.453000													10	107					0.000673444	0.000724755	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79952386	79952386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79952386T>C	ENST00000360280.3	+	47	6571	c.6311T>C	c.(6310-6312)aTa>aCa	p.I2104T	VPS13A_ENST00000376634.4_Missense_Mutation_p.I2104T|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2104T|VPS13A_ENST00000376636.3_Missense_Mutation_p.I2065T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2104					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACCATACATAATGCATTTG	0.348000													32	58					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120851	94120851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120851G>A	ENST00000369303.4	-	3	384	c.200C>T	c.(199-201)cCg>cTg	p.P67L	EPHA7_ENST00000369297.1_Missense_Mutation_p.P67L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	67						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTCGTATCGGGGTATAGTT	0.393000													7	120					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80423623	80423623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80423623G>A	ENST00000261749.6	+	6	888	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	ZFAND6_ENST00000558087.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559835.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558494.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558688.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000561060.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559157.1_Missense_Mutation_p.V144M|ZFAND6_ENST00000559775.1_Missense_Mutation_p.V156M	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	156							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAGGAAGAAAGTGGGACTTAC	0.348000													23	40					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101842124	101842124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101842124C>T	ENST00000360264.3	+	16	1990	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P544L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P646L|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	646					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGAAGTACCGAAACGAAGA	0.458000													4	84					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336138	124336138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124336138G>A	ENST00000338354.3	+	7	613	c.507G>A	c.(505-507)gtG>gtA	p.V169V	DMBT1_ENST00000368956.2_Silent_p.V169V|DMBT1_ENST00000368909.3_Silent_p.V169V|DMBT1_ENST00000344338.3_Silent_p.V169V|DMBT1_ENST00000359586.6_Silent_p.V169V|DMBT1_ENST00000368955.3_Silent_p.V169V|DMBT1_ENST00000330163.4_Silent_p.V169V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	169	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATGATGTGCGCTGCTCAG	0.587000													46	79					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98928714G>A	ENST00000477737.1	+	28	3991	c.3787G>A	c.(3787-3789)Gcc>Acc	p.A1263T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAGCCACGCCATCATTGC	0.597000													28	30					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706775	26706775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26706775G>A	ENST00000529632.2	+	7	1850	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SEZ6L_ENST00000360929.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A552T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A552T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A552T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	552	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCGGGCGGCCTCCACCTT	0.607000													32	58					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121212232	121212232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121212232C>T	ENST00000392870.2	+	14	1783	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	GRK5_ENST00000369108.3_Missense_Mutation_p.T380I|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGTTCTCCACTGTGAAGGGC	0.602000													11	30					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72732972	72732972	+	Missense_Mutation	SNP	C	C	T	rs147367299	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72732972C>T	ENST00000333149.2	-	4	775	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM50_ENST00000453152.1_Missense_Mutation_p.R192H	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	192						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCCAGGCAGCGGGCCTTCTC	0.677000													68	122					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284489	27284489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27284489C>T	ENST00000317338.12	-	12	2799	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	SEZ6_ENST00000360295.9_Missense_Mutation_p.V791M|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.V791M			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	791	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCCCCCACGGGAAACTTG	0.597000													8	54					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20784923	20784923	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20784923T>A	ENST00000404938.2	+	26	3943	c.3291T>A	c.(3289-3291)ccT>ccA	p.P1097P	ABCB5_ENST00000258738.6_Silent_p.P652P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	652					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATCGTTCCTCAAGAGCCTG	0.468000													5	125					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48502119	48502119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48502119G>A	ENST00000537810.1	-	63	9315	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	FRYL_ENST00000503238.1_Missense_Mutation_p.A2904V|FRYL_ENST00000507873.2_Missense_Mutation_p.A294V|FRYL_ENST00000264319.7_Missense_Mutation_p.A294V|FRYL_ENST00000358350.4_Missense_Mutation_p.A2904V			O94915	FRYL_HUMAN	FRY-like	2904					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAATGAATGGCAGTTTCTAT	0.368000													5	62					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585217	42585217	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42585217G>A	ENST00000600245.1	+	2	3114	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.R820Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R910Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGGCGAACGACCCTACTCC	0.612000													16	30					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4322672	4322672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4322672C>A	ENST00000204517.6	-	1	404	c.76G>T	c.(76-78)Gga>Tga	p.G26*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	26					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGCCCTCCTATCACTTCT	0.622000													6	18					3.59834e-05	4.01776e-05	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53878923	53878923	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53878923G>T	ENST00000267079.2	-	7	1182	c.957C>A	c.(955-957)atC>atA	p.I319I	MAP3K12_ENST00000547488.1_Silent_p.I352I|MAP3K12_ENST00000547035.1_Silent_p.I352I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	319	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACACCCCAGATAATGGCTG	0.552000													9	44					0.00448238	0.00472561	1	1	0
TTLL3	26140	broad.mit.edu	37	3	9876506	9876506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9876506G>T	ENST00000547186.1	+	12	2054	c.1838G>T	c.(1837-1839)aGg>aTg	p.R613M	TTLL3_ENST00000426895.4_Missense_Mutation_p.R756M|TTLL3_ENST00000430793.1_Missense_Mutation_p.R401M|TTLL3_ENST00000383827.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	613					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCCTTGAGGACTCTACCC	0.592000													28	50					2.4375e-19	3.18921e-19	1	1	0
MED13L	23389	broad.mit.edu	37	12	116418589	116418589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116418589G>A	ENST00000281928.3	-	23	5536	c.5330C>T	c.(5329-5331)gCa>gTa	p.A1777V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1777					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGCTGGCTGCAGGCCCAAA	0.443000													35	100					0	0	1	0	0
COA4	51287	broad.mit.edu	37	11	73584383	73584383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73584383C>T	ENST00000541455.1	-	2	461	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	COA4_ENST00000355693.4_Missense_Mutation_p.R14Q|COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		TTTCTTCACCCGTTGGGTCCA	0.547000													29	53					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154247708	154247708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154247708C>T	ENST00000328703.7	+	5	848	c.635C>T	c.(634-636)tCt>tTt	p.S212F	HAX1_ENST00000532105.1_Missense_Mutation_p.S84F|HAX1_ENST00000457918.2_Missense_Mutation_p.S164F|HAX1_ENST00000483970.2_Missense_Mutation_p.S220F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAGCATCTCTGTGACCAAG	0.488000									Kostmann syndrome				34	42					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104342067	104342067	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104342067A>G	ENST00000358755.4	+	6	2043	c.1726A>G	c.(1726-1728)Act>Gct	p.T576A	FZD6_ENST00000540287.1_Missense_Mutation_p.T271A|FZD6_ENST00000522566.1_Missense_Mutation_p.T576A|FZD6_ENST00000523739.1_Missense_Mutation_p.T544A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	576					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTAGCAATTACTAGCCATGA	0.463000													4	31					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136531992	136531992	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136531992G>A	ENST00000371872.4	-	20	2753	c.2495_splice	c.e20-1	p.D832_splice	SARDH_ENST00000422262.2_Splice_Site_p.D664_splice|SARDH_ENST00000371868.1_Silent_p.S282S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Splice_Site_p.D832_splice	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTACTTTGCTGGAAGAAG	0.617000													4	4					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536982	87536982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536982C>A	ENST00000265728.1	+	12	2033	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	510					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAGTCAGATACTGTGCTTTTT	0.363000													29	92					2.12542e-12	2.67336e-12	1	1	0
BMP10	27302	broad.mit.edu	37	2	69093135	69093135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093135C>T	ENST00000295379.1	-	2	1061	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	301					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGATCTCATCTGCAACAAAG	0.483000													16	19					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732374	111732374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111732374C>T	ENST00000393917.2	+	5	1128	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TAGLN3_ENST00000455401.2_Silent_p.Y192Y|TAGLN3_ENST00000273368.4_Silent_p.Y192Y|TAGLN3_ENST00000478951.1_Silent_p.Y192Y|TAGLN3_ENST00000486460.1_Silent_p.Y108Y	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	192					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGACAGGGTACGGGATGCCCA	0.567000											OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	41					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127765751	127765751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127765751C>T	ENST00000336505.5	-	10	1018	c.960G>A	c.(958-960)atG>atA	p.M320I	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.M343I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	320					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGATTACCTGCATTCCTGGTT	0.423000													4	46					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434397	201434397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201434397C>A	ENST00000357799.4	+	6	583	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SGOL2_ENST00000409203.3_Missense_Mutation_p.T162N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	162					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTTCCATTAACTTCAAATGAT	0.308000													14	20					0.0202918	0.0209785	1	1	0
C9orf156	51531	broad.mit.edu	37	9	100672556	100672556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100672556G>A	ENST00000375119.3	-	4	828	c.752C>T	c.(751-753)gCa>gTa	p.A251V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	251					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAAATCCACTGCTATCTCCCT	0.443000													11	113					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027339	41027339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41027339G>A	ENST00000324545.7	+	18	3137	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	USP9X_ENST00000378308.2_Missense_Mutation_p.G835D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	835					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGATGGTGACAAAGAC	0.373000													45	89					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489769	100489769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489769G>T	ENST00000471714.1	-	61	4641	c.4532C>A	c.(4531-4533)cCt>cAt	p.P1511H	ABI3BP_ENST00000383691.4_Missense_Mutation_p.P763H|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P809H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	809						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGTTGTCAGGCTTTTGGAT	0.488000													6	80					3.59834e-05	4.01776e-05	1	1	0
RAI1	10743	broad.mit.edu	37	17	17700973	17700973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17700973G>A	ENST00000353383.1	+	3	5180	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	RAI1_ENST00000261641.6_Missense_Mutation_p.A1571T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1571						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGGATCCCGCAGAGCCTGA	0.642000													33	49					0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211282	118211282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118211282C>T	ENST00000300692.4	-	2	218	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CD3D_ENST00000392884.2_Missense_Mutation_p.E28K|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	28					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCTCAAGTTCCTCTATAGGT	0.478000													11	23					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735969	158735969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158735969G>T	ENST00000335094.2	-	1	523	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGCCACAGAATGGGAGGC	0.478000													28	46					3.1745e-13	4.02314e-13	1	1	0
CCDC57	284001	broad.mit.edu	37	17	80136450	80136450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80136450G>A	ENST00000389641.4	-	10	1442	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CCDC57_ENST00000392343.3_Missense_Mutation_p.A469V|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.A469V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	469										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCTGTAGCGCCTGCTCTGT	0.647000													9	17					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162903928	162903928	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:162903928A>G	ENST00000360534.3	-	3	738	c.178T>C	c.(178-180)Tta>Cta	p.L60L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	60					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATCCATCTTAAGGAGTATAAC	0.368000													16	35					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161789436	161789436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161789436G>T	ENST00000367942.3	+	8	990	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	308					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTGTGCTAAGGAGACAGCAA	0.343000													15	63					1.02788e-11	1.28409e-11	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26221333	26221333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26221333T>C	ENST00000380737.3	+	8	1228	c.899T>C	c.(898-900)aTg>aCg	p.M300T	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M310T	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGTCGATATATGATGACTAGA	0.363000													25	54					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119030	50119030	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50119030G>T	ENST00000376025.2	-	0	3465							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TACTTCAATGGGAATACAGGA	0.463000													15	29					7.81268e-19	1.02077e-18	1	1	0
DHRS11	79154	broad.mit.edu	37	17	34954662	34954662	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34954662A>G	ENST00000251312.5	+	3	640	c.428A>G	c.(427-429)gAt>gGt	p.D143G	DHRS11_ENST00000590554.1_Missense_Mutation_p.D64G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						AATGTGGACGATGGGCACATC	0.577000													33	58					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12397304	12397304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12397304G>T	ENST00000261349.4	-	2	417	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S114Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	114	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTAGTTTCAGAATCTGTCCA	0.393000													4	52					0.014758	0.0152625	1	1	0
MIR507	0	broad.mit.edu	37	X	146312538	146312538	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:146312538A>T	ENST00000385234.1	-	0	57					NR_030234.1																						AAAAGGTGCAAAACATATTTC	0.438000													17	191					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045217	80045217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045217C>T	ENST00000306749.2	-	20	3425	c.3207G>A	c.(3205-3207)ctG>ctA	p.L1069L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1069					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTGTCCTGCAGTGTGTACA	0.667000													10	21					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16146596	16146596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16146596G>A	ENST00000399408.2	+	11	1571	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	ABCC1_ENST00000345148.5_Missense_Mutation_p.V466I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V466I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V466I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V466I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V466I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	466	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCCCTTCCGTCCTGGCTGG	0.557000													29	29					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522547	124522547	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124522547C>T	ENST00000408936.3	+	6	1181	c.999C>T	c.(997-999)cgC>cgT	p.R333R	DAB2IP_ENST00000259371.2_Silent_p.R305R|DAB2IP_ENST00000309989.1_Silent_p.R209R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	333					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCAAGGCGCGCTACCAAACCA	0.632000													9	18					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17788044	17788044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17788044G>A	ENST00000378814.5	-	26	3284	c.3285C>T	c.(3283-3285)taC>taT	p.Y1095Y	KIF13A_ENST00000259711.6_Silent_p.Y1108Y|KIF13A_ENST00000378843.2_Silent_p.Y1095Y|KIF13A_ENST00000378816.5_Silent_p.Y1108Y|KIF13A_ENST00000378826.2_Silent_p.Y1108Y	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1108					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCATCCAGGTATTCTCGTC	0.398000													50	66					0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9727379	9727379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9727379C>T	ENST00000467482.1	-	3	594	c.448G>A	c.(448-450)Gga>Aga	p.G150R	GPR143_ENST00000380929.2_Missense_Mutation_p.G170R			P51810	GP143_HUMAN	G protein-coupled receptor 143	150					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TACCTCAGTCCTGCCGATCTC	0.468000													4	1					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56236156	56236156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56236156C>T	ENST00000322569.4	-	2	245	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MMP19_ENST00000548629.1_Missense_Mutation_p.D52N|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Missense_Mutation_p.D52N	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	52					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D52Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCGGTGATATCTTCTGGCTTG	0.488000													36	53					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906451	32906451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32906451G>A	ENST00000544455.1	+	10	1063	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C279Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	279					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAGCTGCAAAGACCAC	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	28					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909419	124909419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124909419G>A	ENST00000339992.3	+	2	859	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	201					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGAACCGCCGCAACAAGTGG	0.652000													5	10					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68844204	68844204	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68844204G>T	ENST00000261769.5	+	6	983	c.792G>T	c.(790-792)caG>caT	p.Q264H	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.Q264H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	264	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T263fs*3(6)|p.?(4)|p.F262_E265>L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTCACCCAGGAGGTCTTTA	0.463000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				37	93					2.54651e-27	3.39717e-27	1	1	0
ANK3	288	broad.mit.edu	37	10	61831460	61831460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61831460G>T	ENST00000280772.1	-	37	9370	c.9179C>A	c.(9178-9180)tCt>tAt	p.S3060Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3060					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTAGAGGGAGATTCCTTTCC	0.468000													49	76					3.7052e-28	4.95075e-28	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49442974	49442974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49442974G>A	ENST00000301067.7	-	12	3933	c.3934C>T	c.(3934-3936)Cgc>Tgc	p.R1312C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGAGGCCGGCGTCTTCCTGGG	0.547000													5	9					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26443734	26443734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26443734G>A	ENST00000265944.5	+	25	2941	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	925	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACACAAACGGTTGCATCAT	0.403000													9	14					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100356228	100356228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100356228G>A	ENST00000372927.1	+	2	446	c.169G>A	c.(169-171)Gct>Act	p.A57T	CENPI_ENST00000423383.1_Missense_Mutation_p.A57T|CENPI_ENST00000218507.5_Missense_Mutation_p.A57T|CENPI_ENST00000372926.1_Missense_Mutation_p.A57T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	57					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTATGAACATGCTGATGATCA	0.398000													34	81					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57644083	57644083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57644083T>C	ENST00000251241.4	+	2	355	c.208T>C	c.(208-210)Tca>Cca	p.S70P	DHX40_ENST00000425628.3_Intron|DHX40_ENST00000451169.2_5'UTR	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	70	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGGACAATTCATTCCTTAT	0.363000													8	48					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945844	46945844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46945844C>A	ENST00000311124.4	-	5	1332	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.E354*|SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.E394*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	394					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCACAGAGCTCTTTAGACAGA	0.567000													30	62					5.09552e-08	6.05645e-08	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50191178	50191178	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50191178C>T	ENST00000335999.6	-	8	667		c.e8-1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCAACATACCTTAGGGGAGA	0.647000													4	10					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540640	113540640	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113540640C>T	ENST00000505019.1	-	6	683	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf21_ENST00000309071.5_Silent_p.E186E|C4orf21_ENST00000445203.2_Silent_p.E155E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	186										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGGCATTTCTCTCCCTGTTCT	0.403000													25	42					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869797	36869797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36869797G>A	ENST00000279024.4	-	3	1007	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	246								p.P246A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592000													26	36					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95111211	95111211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95111211C>T	ENST00000371501.4	-	34	3903	c.3781G>A	c.(3781-3783)Ggg>Agg	p.G1261R	MYOF_ENST00000359263.4_Missense_Mutation_p.G1261R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1248R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1261R			Q9NZM1	MYOF_HUMAN	myoferlin	1261					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAACATCCCCGCAGGCTTTG	0.453000													7	72					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058042	100058042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058042C>A	ENST00000394140.3	+	2	210	c.119C>A	c.(118-120)tCt>tAt	p.S40Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	40	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAAATAGTTTCTTTGCCGGTC	0.512000													43	77					1.8453e-21	2.42927e-21	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884759	39884759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39884759G>A	ENST00000341184.6	+	2	1622	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	469					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCACGCAGCAGGAGTACC	0.627000													8	9					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47450427	47450427	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47450427T>C	ENST00000265562.4	+	16	1569	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	PTPN23_ENST00000431726.1_Missense_Mutation_p.W372R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	498					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCGAGAATGGGCCAAGTA	0.612000													43	77					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722503	12722503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12722503C>A	ENST00000380682.1	+	11	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	366	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373000													27	72					1.77063e-15	2.27219e-15	1	1	0
PPM1F	9647	broad.mit.edu	37	22	22277493	22277493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22277493G>T	ENST00000407142.1	-	6	1893	c.833C>A	c.(832-834)cCt>cAt	p.P278H	PPM1F_ENST00000263212.5_Missense_Mutation_p.P446H|PPM1F_ENST00000538191.1_Missense_Mutation_p.P342H			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	446					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGTCTCAGGTTCTGGAAG	0.642000													5	116					1	1	1	1	0
ZFR2	23217	broad.mit.edu	37	19	3825226	3825226	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3825226A>G	ENST00000262961.4	-	7	1224		c.e7+1			NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2							intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACACACGTACCCTCGCATA	0.597000													3	2					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49879910	49879910	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49879910C>A	ENST00000331456.2	-	6	592	c.479G>T	c.(478-480)aGg>aTg	p.R160M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	160					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCTTGCTCCTGAGCCGGCG	0.547000													5	70					3.59834e-05	4.01776e-05	1	1	0
SETD5	55209	broad.mit.edu	37	3	9488989	9488989	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9488989G>T	ENST00000402466.1	+	15	2254	c.1486G>T	c.(1486-1488)Ggg>Tgg	p.G496W	SETD5_ENST00000302463.6_Missense_Mutation_p.G496W|SETD5_ENST00000406341.1_Missense_Mutation_p.G594W|SETD5_ENST00000407969.1_Missense_Mutation_p.G613W|SETD5_ENST00000402198.1_Missense_Mutation_p.G594W			Q9C0A6	SETD5_HUMAN	SET domain containing 5	594										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCCAAGCAGGGGTAAGAGT	0.428000													8	160					1.12685e-05	1.27857e-05	1	1	0
ATP2A3	489	broad.mit.edu	37	17	3844783	3844783	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844783G>A	ENST00000309890.7	-	13	1861	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	ATP2A3_ENST00000397043.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000359983.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397041.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000352011.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTCCTTGGGGGCGCGTCC	0.647000													30	48					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72537750	72537750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72537750G>T	ENST00000321297.5	+	13	1386	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	416					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGTACAGGAGACACTGTCTG	0.592000													41	74					3.61848e-18	4.7115e-18	1	1	0
NCDN	23154	broad.mit.edu	37	1	36028226	36028226	+	Silent	SNP	C	C	T	rs146734510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028226C>T	ENST00000373243.2	+	4	1760	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NCDN_ENST00000356090.4_Silent_p.D459D|NCDN_ENST00000373253.3_Silent_p.D442D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	459					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCAGGAGACGCTCTCCGGT	0.597000													8	11					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658411	49658411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658411C>A	ENST00000252825.4	-	1	270	c.84G>T	c.(82-84)caG>caT	p.Q28H	HRC_ENST00000595625.1_Missense_Mutation_p.Q28H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	28					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTGAGCTGCTGGGTCATGG	0.667000													6	59					0.0215528	0.0221649	1	1	0
ST14	6768	broad.mit.edu	37	11	130079624	130079624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130079624G>A	ENST00000278742.5	+	19	2892	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	825	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGTGGTGAGCTGGGGAGAC	0.647000													29	42					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149485905	149485905	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149485905C>T	ENST00000378016.2	+	0	4124							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGTGCCTGCCTGTGCAGAG	0.612000													10	44					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350567	96350567	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96350567G>A	ENST00000266736.2	+	4	520	c.414G>A	c.(412-414)ttG>ttA	p.L138L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	138					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCGCTCCTTGCAGCAACGGC	0.617000													7	46					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34322791	34322791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34322791C>T	ENST00000257209.4	+	19	3448	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A88V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1092V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A305V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1284V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1071V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1092	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCTCTTAGCCATTGGGAAC	0.458000													61	111					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124094552	124094552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124094552G>A	ENST00000238146.4	+	7	668	c.618G>A	c.(616-618)acG>acA	p.T206T	DDX55_ENST00000538744.1_Silent_p.T206T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	206	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCACTCAGACGCAGGAAGTGG	0.567000													20	31					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036378	88036378	+	Missense_Mutation	SNP	C	C	T	rs142319329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036378C>T	ENST00000307808.6	+	11	2792	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	AFF1_ENST00000544085.1_Missense_Mutation_p.P429L|AFF1_ENST00000395146.4_Missense_Mutation_p.P798L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	791						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATAAACAGCCGCCCGCAGGG	0.567000													11	8					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290342	62290342	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62290342G>A	ENST00000378024.4	-	5	11821	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3849					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493000													109	142					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42807456	42807456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42807456G>A	ENST00000315005.3	+	4	547	c.409G>A	c.(409-411)Gtt>Att	p.V137I	DBF4B_ENST00000398338.3_Missense_Mutation_p.V137I|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.V137I	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	137					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGGAAACCCGTTGACTCGGT	0.507000													19	30					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238794	104238794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238794C>T	ENST00000374851.1	-	4	1728	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.C194Y|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.C194Y			Q9BRR3	CI125_HUMAN	transmembrane protein 246	194						integral to membrane											TGACTCCAGGCAATAGACATA	0.502000													5	26					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28720060C>T	ENST00000257197.3	-	10	1726	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	DSC1_ENST00000257198.5_Missense_Mutation_p.E489K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428000													38	58					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593868	156593868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156593868C>T	ENST00000255039.1	+	4	762	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	119	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCGGGCGTGCGCCTGGAGGA	0.701000													13	18					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944301	121944301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944301G>T	ENST00000442488.2	-	1	258	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S64Y|FEZF1_ENST00000427185.2_Missense_Mutation_p.S64Y	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	64					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S64Y(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAGATGCAGAGAGTGCTTGGG	0.632000													35	94					1.36161e-19	1.78291e-19	1	1	0
METTL2B	55798	broad.mit.edu	37	7	128119556	128119556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119556C>T	ENST00000480046.1	+	2	467	c.352C>T	c.(352-354)Cga>Tga	p.R118*	METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R183*			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	183							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCACCTACCGAATACTGGA	0.408000													5	73					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54348857	54348857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54348857C>A	ENST00000072644.1	-	4	460	c.124G>T	c.(124-126)Gga>Tga	p.G42*	YIPF1_ENST00000371399.1_De_novo_Start_OutOfFrame|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.G67*|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	42						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTGGGGATCCTGGCTGATGT	0.433000													8	106					1.26484e-09	1.54084e-09	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464473	141464473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141464473G>T	ENST00000247879.2	+	1	577	c.515G>T	c.(514-516)aGa>aTa	p.R172I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	172					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAACACTTCAGAAAGAAGAGG	0.458000													9	73					0.000274275	0.000298791	1	1	0
MYOZ2	51778	broad.mit.edu	37	4	120072113	120072113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120072113G>A	ENST00000307128.5	+	3	376	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	55							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TAACCGTGGTGCCAGGCTATT	0.388000													44	61					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65472527	65472527	+	Missense_Mutation	SNP	C	C	T	rs142954778	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472527C>T	ENST00000300107.3	-	2	283	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	32					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CATATGAATGCGACCACCAGA	0.388000													26	44					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418251	1418251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1418251C>T	ENST00000345913.4	+	2	162	c.71C>T	c.(70-72)tCg>tTg	p.S24L	TPO_ENST00000346956.3_Missense_Mutation_p.S24L|TPO_ENST00000382269.3_Missense_Mutation_p.S24L|TPO_ENST00000349624.3_Missense_Mutation_p.S24L|TPO_ENST00000329066.4_Missense_Mutation_p.S24L|TPO_ENST00000337415.3_Missense_Mutation_p.S24L|TPO_ENST00000539820.1_Missense_Mutation_p.S24L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.S24L|TPO_ENST00000382198.1_Missense_Mutation_p.S24L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	24					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTTCATCTCGAGAGGGAAA	0.453000													13	11					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36213916	36213916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36213916G>T	ENST00000420124.1	+	6	2742	c.2742G>T	c.(2740-2742)gaG>gaT	p.E914D	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.E914D																							CGGCGTCCGAGACTGAGAGTG	0.622000													6	12					0.00198382	0.00210581	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40630542	40630542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40630542G>A	ENST00000342449.3	-	18	2020	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	BRWD1_ENST00000333229.2_Missense_Mutation_p.R648C|BRWD1_ENST00000380800.3_Missense_Mutation_p.R648C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGGCTGCGTTCATCATTA	0.368000													52	78					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105551100	105551100	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105551100G>T	ENST00000332180.5	+	28	2999	c.2912_splice	c.e28+1	p.R971_splice		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	971					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGCAGCAAGGTAATCTAAA	0.274000													4	32					0.150653	0.152692	1	1	0
TEX264	51368	broad.mit.edu	37	3	51733425	51733425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51733425C>T	ENST00000415259.1	+	4	1565	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	TEX264_ENST00000457573.1_Missense_Mutation_p.R162W|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000416589.1_Missense_Mutation_p.R162W|TEX264_ENST00000395057.1_Missense_Mutation_p.R162W|TEX264_ENST00000341333.5_Missense_Mutation_p.R162W			Q9Y6I9	TX264_HUMAN	testis expressed 264	162						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGACTAGGAGCGGAAGCTGTG	0.542000													5	73					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658016	49658016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658016T>C	ENST00000252825.4	-	1	665	c.479A>G	c.(478-480)cAt>cGt	p.H160R	HRC_ENST00000595625.1_Missense_Mutation_p.H160R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	160	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCGTCTTGATGGCTGTGGCT	0.582000													13	41					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270305	102270305	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102270305C>A	ENST00000370103.4	-	6	1079	c.866G>T	c.(865-867)aGt>aTt	p.S289I	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S309I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	309	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGATATTACTCTGATACTT	0.433000													26	67					8.58068e-18	1.11523e-17	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48697656	48697656	+	Missense_Mutation	SNP	C	C	T	rs149962239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:48697656C>T	ENST00000236495.5	+	8	855	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R244W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R265W	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	244			I -> M (in dbSNP:rs212991).			integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTGGAGCAGCGGTACAGGCA	0.612000													25	58					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88500547	88500547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88500547G>A	ENST00000552810.1	-	25	3065	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.R910*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	908					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAAGTTGTCGCTCCAATTCT	0.308000													10	20					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216239	8216239	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8216239G>T	ENST00000361926.3	+	3	711		c.e3-1		ARHGEF15_ENST00000421050.1_Splice_Site	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCTCCCACAGATGCTGGCCT	0.632000													8	190					1.06961e-07	1.26574e-07	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120301770	120301770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120301770C>T	ENST00000369406.3	-	4	870	c.821G>A	c.(820-822)cGt>cAt	p.R274H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232H|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R274H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATTTTTTTACGGTATGATGT	0.468000													31	46					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459555	56459555	+	Missense_Mutation	SNP	G	G	A	rs145352424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56459555G>A	ENST00000291971.3	+	1	358	c.287G>A	c.(286-288)cGc>cAc	p.R96H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R96H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN.					cytoplasm	ATP binding	p.R96H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGGACGACGCGCTTGGGAT	0.512000													16	13					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57272840C>T	ENST00000537866.1	+	15	2557	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418000													25	40					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758007	51758007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51758007C>T	ENST00000543196.2	-	5	1152	c.947G>A	c.(946-948)aGa>aAa	p.R316K	GALNT6_ENST00000356317.3_Missense_Mutation_p.R316K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	316					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTATGGACTCTGCCCCTCTG	0.557000													20	36					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2836162	2836162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2836162G>A	ENST00000380739.5	-	6	865	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SERPINB1_ENST00000537185.1_Silent_p.Y70Y			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	221					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCTCGCCTTGGTAAGGCAGTT	0.488000													7	30					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5811321	5811321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5811321C>T	ENST00000382674.2	+	19	2949	c.2765C>T	c.(2764-2766)gCt>gTt	p.A922V	EVC_ENST00000264956.6_Missense_Mutation_p.A922V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	922					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGTTGCCTGCTAAGCGTGGG	0.542000													12	20					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118634246	118634246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634246G>A	ENST00000336338.5	-	10	1407	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	448						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCATACAATGCAGTATCAGG	0.383000													12	17					0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33135232	33135232	+	Silent	SNP	G	G	A	rs148801297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33135232G>A	ENST00000342462.4	-	2	646	c.456C>T	c.(454-456)gtC>gtT	p.V152V	GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Silent_p.V15V|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	152						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGCTGCCCACGACCCTACCAC	0.612000													9	7					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234556471	234556471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234556471C>A	ENST00000040877.1	-	21	3531	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1178					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGAAAAGTACCAGCAGAGTC	0.368000													11	77					9.05144e-12	1.1316e-11	1	1	0
ENPP6	133121	broad.mit.edu	37	4	185074733	185074733	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185074733C>A	ENST00000296741.2	-	2	536	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTAGACCTTCCTTTTGGCCTT	0.473000													14	23					1.3612e-06	1.57881e-06	1	1	0
TCOF1	6949	broad.mit.edu	37	5	149749101	149749101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149749101C>T	ENST00000451292.1	+	6	683	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TCOF1_ENST00000439160.2_Missense_Mutation_p.S192L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S192L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S192L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S192L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S192L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S192L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S192L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	192					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATGGTGTCAGCGGGCCAG	0.632000													10	30					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119622	42119622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42119622G>A	ENST00000502486.1	-	6	2097	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	506										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGCCACCGTTGTGCAGGA	0.532000													5	8					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260953	4260953	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4260953C>T	ENST00000404826.2	+	40	5923	c.5784C>T	c.(5782-5784)ggC>ggT	p.G1928G	SDK1_ENST00000389531.3_Silent_p.G1908G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1928	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACTCTGGCGACACACCTA	0.622000													4	6					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513689	78513689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513689C>A	ENST00000397909.2	+	15	3886	c.3713C>A	c.(3712-3714)tCc>tAc	p.S1238Y	NAV3_ENST00000536525.2_Missense_Mutation_p.S1238Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S1238Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1238Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1238	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCAGGATCCAAGTATCCA	0.448000										HNSCC(70;0.22)			11	36					3.86212e-05	4.30401e-05	1	1	0
OPRM1	4988	broad.mit.edu	37	6	154439843	154439843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154439843C>A	ENST00000522236.1	+	4	2198	c.890C>A	c.(889-891)gCt>gAt	p.A297D	OPRM1_ENST00000522555.1_Missense_Mutation_p.A297D|OPRM1_ENST00000434900.2_Missense_Mutation_p.A490D|OPRM1_ENST00000330432.7_Missense_Mutation_p.A397D|OPRM1_ENST00000518759.1_Missense_Mutation_p.A316D|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000520708.1_Missense_Mutation_p.A297D	NM_001145287.1	NP_001138759.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	397					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAGAAACTGCTCCGTTGCCC	0.463000													54	78					9.53978e-28	1.27394e-27	1	1	0
SMG8	55181	broad.mit.edu	37	17	57289832	57289832	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57289832T>C	ENST00000543872.2	+	3	2154	c.1890T>C	c.(1888-1890)aaT>aaC	p.N630N	SMG8_ENST00000300917.5_Silent_p.N630N|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	630					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGCAGCCAATTATGACTTCT	0.378000													9	79					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058011	152058011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152058011G>A	ENST00000368806.1	-	3	2211	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	716							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTATTCTGGGCCTCTGTTGC	0.443000													77	88					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19122584	19122584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19122584C>T	ENST00000252137.6	-	9	1183	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	380					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCAGATTCTCCGTCACTC	0.682000													7	70					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287036	62287036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62287036A>G	ENST00000378024.4	-	5	15127	c.14853T>C	c.(14851-14853)gcT>gcC	p.A4951A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4951					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAGCTTGGAGCTTCAACTT	0.438000													46	93					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161044518	161044518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161044518C>A	ENST00000368012.3	-	5	1185	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	PVRL4_ENST00000453926.2_Missense_Mutation_p.V29L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCATCCACTCGTACCCCA	0.602000													17	11					0.146539	0.149173	1	1	0
FLCN	201163	broad.mit.edu	37	17	17120461	17120461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17120461C>T	ENST00000285071.4	-	10	1552	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A74T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	366					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGAACGTGCCAGGCCAGCA	0.512000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	32					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552103	102552103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552103G>A	ENST00000334701.7	-	4	1168	c.887C>T	c.(886-888)aCa>aTa	p.T296I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T174I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	174					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ACCTGTGTCTGTCCTCACTGT	0.522000													5	66					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39019766	39019766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39019766C>T	ENST00000251643.4	-	5	1089	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	356	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCTCGATCTCCAGGTTCTGA	0.547000													21	26					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52903911	52903911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52903911C>T	ENST00000371544.3	-	25	4181	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1307N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1307					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAGGGCAGTCTTTCATGTAG	0.368000													59	84					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66605934	66605934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66605934C>T	ENST00000262146.4	+	4	347	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.A41V	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGCAGTGGCGTCTTTTGCT	0.448000													6	20					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827631	1827631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1827631G>A	ENST00000170168.4	-	2	1251	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	386						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGGGGGCAGGTGGGGC	0.672000													8	20					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180553	101180553	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101180553G>A	ENST00000370508.5	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	GOT1_ENST00000543866.1_Missense_Mutation_p.T22M|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	43					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCAGTCATCCGTGCGATATGC	0.468000													39	66					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566687	45566687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566687G>A	ENST00000588982.1	-	3	1293	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZBTB7C_ENST00000586438.1_Silent_p.F264F|ZBTB7C_ENST00000535628.2_Silent_p.F264F|ZBTB7C_ENST00000590800.1_Silent_p.F264F|ZBTB7C_ENST00000332053.2_Silent_p.F264F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	264						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAAGGCACCGAAGTCCCCTG	0.592000													11	31					0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118529667	118529667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118529667A>G	ENST00000529101.1	-	13	1537	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	TREH_ENST00000525958.1_Missense_Mutation_p.W467R|TREH_ENST00000397925.1_Missense_Mutation_p.W467R|TREH_ENST00000530256.1_Missense_Mutation_p.W375R|TREH_ENST00000264029.4_Missense_Mutation_p.W498R			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	498					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GTTCGGATCCAATTCTGAGCC	0.592000											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	102					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437871	437871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437871C>A	ENST00000338977.5	-	2	397	c.349G>T	c.(349-351)Gga>Tga	p.G117*	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Nonsense_Mutation_p.G129*|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCATGAATTCCTTTATGTTGA	0.383000													4	106					0.014758	0.0152625	1	1	0
AGFG1	3267	broad.mit.edu	37	2	228418504	228418504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228418504C>A	ENST00000310078.7	+	12	1882	c.1622C>A	c.(1621-1623)cCt>cAt	p.P541H	AGFG1_ENST00000373671.3_Missense_Mutation_p.P501H|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563H|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539H|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520H	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	541					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTAGTAATCCTTTTATGGTA	0.313000													4	58					0.00909568	0.00947522	1	1	0
DMTN	2039	broad.mit.edu	37	8	21938863	21938863	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938863G>A	ENST00000358242.3	+	16	1600	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	DMTN_ENST00000517600.1_Silent_p.R329R|DMTN_ENST00000265800.5_Silent_p.R369R|DMTN_ENST00000523782.2_Silent_p.R322R|DMTN_ENST00000523266.1_Silent_p.R369R|DMTN_ENST00000415253.1_Silent_p.R347R|DMTN_ENST00000443491.2_Silent_p.R322R|DMTN_ENST00000381470.3_Silent_p.R347R|DMTN_ENST00000432128.1_Silent_p.R369R|DMTN_ENST00000519907.1_Silent_p.R347R					dematin actin binding protein																		CCATGTAGAGGCATCTGTCTG	0.587000													13	27					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8718054	8718054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8718054C>T	ENST00000534127.1	-	21	3597	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ST5_ENST00000530991.1_Missense_Mutation_p.R543H|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.R584H|ST5_ENST00000526757.1_Missense_Mutation_p.R651H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.R262H|ST5_ENST00000530438.1_Missense_Mutation_p.R651H|ST5_ENST00000357665.1_Missense_Mutation_p.R1071H|ST5_ENST00000313726.6_Missense_Mutation_p.R1071H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1071	dDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCAAGAAAGCGGCGGATGCT	0.512000													83	176					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988347	21988347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988347C>T	ENST00000292779.3	+	3	270	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	37										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGAAATGCGGCCAGCCTG	0.632000													18	35					0	0	1	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56113373	56113373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56113373C>T	ENST00000547076.1	+	4	723	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000549424.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548925.1_Silent_p.L148L|BLOC1S1_ENST00000548556.1_Silent_p.L70L|BLOC1S1_ENST00000257899.2_Silent_p.L120L			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	148					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAAAGGGCAGCTGCAGTCTGC	0.582000													4	39					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64853996	64853996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64853996G>T	ENST00000331710.5	+	3	454	c.115G>T	c.(115-117)Gta>Tta	p.V39L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	39	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCTATCAAAGTATTTAATAA	0.264000													4	26					0.184627	0.186383	1	1	0
ZDHHC19	131540	broad.mit.edu	37	3	195925736	195925736	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195925736G>T	ENST00000296326.3	-	6	776	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	233						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TATCCCTGAAGGTGTCTGCAC	0.587000													25	31					4.7796e-09	5.77107e-09	1	1	0
MED13L	23389	broad.mit.edu	37	12	116413074	116413074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413074T>C	ENST00000281928.3	-	25	5839	c.5633A>G	c.(5632-5634)aAg>aGg	p.K1878R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1878					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCCATAACTTCTGTAGTCC	0.463000													8	52					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133109	38133109	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133109A>G	ENST00000301659.4	+	12	1254	c.1136A>G	c.(1135-1137)gAg>gGg	p.E379G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	379					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGGATAAAGAGGGTGTTTTC	0.547000													5	103					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197094253	197094253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197094253C>T	ENST00000367409.4	-	11	3261	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	ASPM_ENST00000367408.1_Missense_Mutation_p.R252H|ASPM_ENST00000294732.7_Missense_Mutation_p.R1002H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1002	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGAAGACGACTTATTGC	0.378000													14	73					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55146618	55146618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55146618G>A	ENST00000396331.1	+	12	1904	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	LILRB1_ENST00000396315.1_Missense_Mutation_p.G517D|LILRB1_ENST00000324602.7_Missense_Mutation_p.G517D|LILRB1_ENST00000396321.2_Missense_Mutation_p.G516D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G500D|LILRB1_ENST00000434867.2_Missense_Mutation_p.G516D|LILRB1_ENST00000396317.1_Missense_Mutation_p.G500D|LILRB1_ENST00000396332.4_Missense_Mutation_p.G516D|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.G517D|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.G566D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	516					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGAGGCCTGCAGTGG	0.617000										HNSCC(37;0.09)			12	27					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16870701	16870701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16870701G>A	ENST00000380087.2	-	8	1296	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_ENST00000380084.4_Silent_p.F356F|RBBP7_ENST00000404022.1_Silent_p.F303F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	312					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.F312F(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338000													35	53					0	0	1	0	0
TP73-AS1	0	broad.mit.edu	37	1	3662291	3662291	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662291G>T	ENST00000452079.1	-	0	1595				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						CGTACAGCAAGCAGCAGCTGT	0.612000													7	6					0.0381472	0.0390147	1	1	0
PHAX	51808	broad.mit.edu	37	5	125939431	125939431	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939431A>G	ENST00000297540.4	+	2	961	c.266A>G	c.(265-267)aAc>aGc	p.N89S	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	89	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAATGTTTTAACCCTCCTCCC	0.433000													8	120					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438335	58438335	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58438335T>G	ENST00000396147.1	-	4	1505	c.1214A>C	c.(1213-1215)aAa>aCa	p.K405T	ZNF418_ENST00000595830.1_Missense_Mutation_p.K405T|ZNF418_ENST00000599852.1_Missense_Mutation_p.K320T|ZNF418_ENST00000425570.3_Missense_Mutation_p.K426T|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTAAAAGATTTCCCACATTC	0.433000													51	88					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540990	5540990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5540990C>T	ENST00000382368.3	-	3	1033	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FBXL18_ENST00000453700.3_Missense_Mutation_p.G304S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	304									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGGAAGAGCCGTTCAGCCAG	0.592000													14	22					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117226752	117226752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117226752C>T	ENST00000355044.3	+	23	3612	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ATRNL1_ENST00000423111.2_Silent_p.V213V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1162						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGTGGTCTGTCGGTTCAACAG	0.294000													17	28					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077707	79077707	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79077707C>T	ENST00000321300.6	+	9	958	c.864_splice	c.e9-1	p.R289_splice	BAIAP2_ENST00000416299.2_Splice_Site_p.R152_splice|BAIAP2_ENST00000435091.3_Splice_Site_p.R289_splice|BAIAP2_ENST00000321280.7_Splice_Site_p.R289_splice|BAIAP2_ENST00000392411.3_Splice_Site_p.R211_splice|BAIAP2_ENST00000575712.1_Splice_Site_p.R289_splice|BAIAP2_ENST00000428708.2_Splice_Site_p.R289_splice|BAIAP2_ENST00000575245.1_Splice_Site_p.R322_splice	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	289					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCCCTGCAGCGGATGTCTGC	0.677000													23	42					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46937274	46937274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46937274C>T	ENST00000429979.1	-	6	1505	c.901G>A	c.(901-903)Gat>Aat	p.D301N	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D234N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D144N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D144N|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D166N|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D301N|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D301N	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	301										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCATCAACATCGCATTTGCAA	0.423000													7	17					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33259951	33259951	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33259951C>T	ENST00000497454.1	-	18	2757	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	754					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCCCTCACTCGGAGGAGTTC	0.607000													33	22					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75907592	75907592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75907592G>A	ENST00000322563.3	-	2	378	c.254C>T	c.(253-255)gCc>gTc	p.A85V		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	85					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCGCATGTCGGCAAAGGCCCG	0.627000													36	98					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274890	35274890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35274890A>G	ENST00000356321.4	-	3	1090	c.746T>C	c.(745-747)tTa>tCa	p.L249S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTCTTCTTTAATAAAAGAGC	0.358000													6	28					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131116870	131116870	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131116870C>T	ENST00000175756.5	+	3	368	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	89	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTAATGGCAACTTCATCC	0.567000													26	34					0	0	1	0	0
TSPAN6	7105	broad.mit.edu	37	X	99887565	99887565	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99887565C>A	ENST00000373020.4	-	6	697	c.585_splice	c.e6-1	p.G196_splice	TSPAN6_ENST00000496771.1_5'UTR	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ATAAAACAACCCTAATGGGAG	0.353000													12	14					4.3838e-07	5.12524e-07	1	1	0
EXT2	2132	broad.mit.edu	37	11	44255770	44255770	+	Missense_Mutation	SNP	G	G	A	rs145024832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44255770G>A	ENST00000395673.3	+	12	2067	c.2011G>A	c.(2011-2013)Gtc>Atc	p.V671I	EXT2_ENST00000343631.3_Missense_Mutation_p.V638I|EXT2_ENST00000533608.1_Missense_Mutation_p.V638I|EXT2_ENST00000358681.4_Missense_Mutation_p.V648I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	638					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGCCAACGTCACGGGAAA	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				17	12					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55702874	55702874	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55702874G>T	ENST00000376350.3	-	12	2401	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	PTPRH_ENST00000263434.5_Silent_p.V615V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	793					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACCTAAAGACCAGATCCC	0.532000													19	234					3.73194e-20	4.89492e-20	1	1	0
ADCK1	57143	broad.mit.edu	37	14	78392212	78392212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78392212G>A	ENST00000238561.5	+	9	1213	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ADCK1_ENST00000341211.5_Missense_Mutation_p.D304N|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	379	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGAGCCGGGGATCTCTACCC	0.587000													60	97					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818660	17818660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818660C>T	ENST00000545871.1	-	3	1931	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	RAI2_ENST00000331511.1_Missense_Mutation_p.A491T|RAI2_ENST00000360011.1_Missense_Mutation_p.A491T|RAI2_ENST00000451717.1_Missense_Mutation_p.A491T|RAI2_ENST00000415486.3_Missense_Mutation_p.A441T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	491					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCTCTGCATTTCCCATG	0.478000													47	523					0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103358835	103358835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103358835C>T	ENST00000537356.2	+	1	33	c.33C>T	c.(31-33)agC>agT	p.S11S	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	11							nucleic acid binding|zinc ion binding										TGGGTAACAGCAGGCAGCAGA	0.507000													5	15					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40999435	40999435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40999435C>T	ENST00000244565.3	-	6	1192	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	UNC5CL_ENST00000470102.1_Intron|UNC5CL_ENST00000373164.1_Missense_Mutation_p.M368I	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	368	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAGGTGTGCATGGTGACAA	0.552000													7	87					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30690417	30690417	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30690417C>T	ENST00000396389.1	+	2	700	c.107C>T	c.(106-108)gCc>gTc	p.A36V	TUBB_ENST00000435534.1_Missense_Mutation_p.A54V|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000327892.8_Missense_Mutation_p.A54V			P07437	TBB5_HUMAN	tubulin, beta class I	54					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TACAATGAAGCCACAGGTAAG	0.582000													10	7					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	794228	794228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794228C>T	ENST00000297440.6	+	5	1047	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R343C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	343							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTTCCAGAGCGCCGCCCTGT	0.547000													147	100					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671602	31671602	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31671602G>T	ENST00000375483.3	+	3	599	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	200	Gly-rich.					cytoplasm|extracellular region	lipid binding										CTTGGTGATGGAGGACTTCTT	0.657000													15	28					5.03518e-11	6.25324e-11	1	1	0
TPR	7175	broad.mit.edu	37	1	186330775	186330775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186330775G>T	ENST00000367478.3	-	9	1233	c.937C>A	c.(937-939)Ctt>Att	p.L313I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	313					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTCAAAAGTTTGTGTAGT	0.348000			T	NTRK1	papillary thyroid								49	55					6.3237e-29	8.45558e-29	1	1	0
TG	7038	broad.mit.edu	37	8	133945841	133945841	+	Missense_Mutation	SNP	G	G	A	rs114101452	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133945841G>A	ENST00000220616.4	+	24	4892	c.4852G>A	c.(4852-4854)Gtg>Atg	p.V1618M	TG_ENST00000542445.1_Missense_Mutation_p.V52M|TG_ENST00000377869.1_Missense_Mutation_p.V1561M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1618					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTTCACCGTGTCCACGAC	0.572000													4	72					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33441687	33441687	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33441687A>C	ENST00000283629.3	-	11	1703	c.1174T>G	c.(1174-1176)Ttt>Gtt	p.F392V	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.F392V|UBP1_ENST00000447368.2_Missense_Mutation_p.F356V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	392					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATACCTGAAAAATTAGAGAAC	0.328000													7	48					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179292287	179292287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179292287C>A	ENST00000356834.3	-	21	3076	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.K154N|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K996N|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.K172N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1013						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAATCGTCTCCTTCTGAGCCT	0.517000													8	87					5.4927e-09	6.6252e-09	1	1	0
CCDC68	80323	broad.mit.edu	37	18	52586565	52586565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52586565C>A	ENST00000591504.1	-	9	1000	c.726G>T	c.(724-726)caG>caT	p.Q242H	CCDC68_ENST00000432185.1_Missense_Mutation_p.Q242H|CCDC68_ENST00000337363.4_Missense_Mutation_p.Q242H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	242										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGAGAGATCTGCTCCTGGA	0.453000													9	62					0.00621372	0.00652201	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86124819	86124819	+	Missense_Mutation	SNP	G	G	A	rs147919379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86124819G>A	ENST00000394518.2	+	7	3615	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1174T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1174					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATGGGTGACGCTGAGGAAGC	0.552000													26	41					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808427	77808427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808427C>T	ENST00000269397.4	-	5	1191	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGGGCTGCGGATCGCTAA	0.667000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15478058	15478058	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15478058A>C	ENST00000396842.2	+	5	1161	c.736A>C	c.(736-738)Agc>Cgc	p.S246R	EAF1-AS1_ENST00000597949.1_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.S145R	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	246	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCCACAAGGAAGCAACCAGCT	0.547000													14	20					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72725432	72725432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72725432C>A	ENST00000340415.3	+	2	1119	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	RAB37_ENST00000402449.4_Missense_Mutation_p.S37Y	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	44					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAAAGACGTCTCTGCTGGTT	0.587000													35	59					4.32679e-17	5.60236e-17	1	1	0
CHMP3	51652	broad.mit.edu	37	2	86737498	86737498	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86737498A>G	ENST00000263856.4	-	4	519	c.391T>C	c.(391-393)Tcc>Ccc	p.S131P	CHMP3_ENST00000409727.1_Missense_Mutation_p.S91P|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.S160P|CHMP3_ENST00000409225.2_Missense_Mutation_p.S65P|CHMP3_ENST00000439940.2_Missense_Mutation_p.S160P|CHMP3_ENST00000494623.1_5'UTR	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		ATTTCTTTGGACAACTCCCTC	0.517000													3	48					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105713700	105713700	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105713700G>A	ENST00000258455.3	+	10	1127	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGGTCAGCGCAGGCTGGAG	0.557000													25	36					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887409	131887409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131887409G>A	ENST00000359827.3	-	12	3544	c.2582C>T	c.(2581-2583)aCa>aTa	p.T861I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T861I			Q9HCM2	PLXA4_HUMAN	plexin A4	861	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTACCTCTGTGATGCGGGG	0.662000													35	27					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17470208	17470208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17470208T>C	ENST00000302539.4	-	8	1312	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ABCC8_ENST00000389817.3_Missense_Mutation_p.Y396C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	396	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AATTTTATTGTAAATCTTGGT	0.458000													56	71					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537069	5537069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5537069C>T	ENST00000380184.1	-	1	866	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	201								p.T201T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483000													50	78					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746916	121746916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121746916G>A	ENST00000452319.1	+	14	3486	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	GLI2_ENST00000361492.4_Missense_Mutation_p.M1142I|GLI2_ENST00000314490.11_Missense_Mutation_p.M814I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1142					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAATAACATGCCTGTGCAGT	0.637000													7	17					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908884	38908884	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38908884G>T	ENST00000450244.1	-	23	4077	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	SCN11A_ENST00000456224.3_Silent_p.I1255I|SCN11A_ENST00000444237.2_Silent_p.I1293I|SCN11A_ENST00000302328.3_Silent_p.I1293I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1293					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCCAAAGATGATAAAGA	0.343000													7	87					0.000157383	0.00017284	1	1	0
HTR7	3363	broad.mit.edu	37	10	92508915	92508915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:92508915C>T	ENST00000371721.3	-	2	1218	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	HTR7_ENST00000336152.3_Missense_Mutation_p.A326T|HTR7_ENST00000277874.6_Missense_Mutation_p.A326T|HTR7_ENST00000371719.2_Missense_Mutation_p.A326T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	326					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGGGTGGTGGCTGCTTTCTGT	0.527000													15	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086021	9086021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086021T>C	ENST00000397910.4	-	1	5997	c.5794A>G	c.(5794-5796)Ata>Gta	p.I1932V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1932	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTAAGCTTATGGCCCTGTTT	0.483000													4	43					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93276605	93276605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93276605G>A	ENST00000163416.2	+	5	1255	c.999G>A	c.(997-999)atG>atA	p.M333I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.M333I	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	333					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAATAATGCAGGATCAAA	0.423000			T	RET	papillary thyroid								12	16					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70390074	70390074	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70390074A>G	ENST00000302243.7	+	4	380	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000417604.2_Missense_Mutation_p.T73A|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGTTGATAACACAAACCAAGT	0.483000													17	228					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498000													10	98					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			30	53					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196274387G>A	ENST00000367433.5	-	21	2601	c.2500C>T	c.(2500-2502)Ctt>Ttt	p.L834F	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.L858F|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784F|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338000													30	34					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917987	39917987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39917987G>T	ENST00000337304.2	+	2	1318	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ATF4_ENST00000404241.2_Nonsense_Mutation_p.E146*|ATF4_ENST00000396680.1_Nonsense_Mutation_p.E146*	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	146					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCATCTCCCAGAAAGTTTAAC	0.532000													8	148					0.00448238	0.00472561	1	1	0
CCDC47	57003	broad.mit.edu	37	17	61833660	61833660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61833660C>T	ENST00000225726.5	-	8	1270	c.888G>A	c.(886-888)ccG>ccA	p.P296P	CCDC47_ENST00000403162.3_Silent_p.P296P|CCDC47_ENST00000582252.1_Silent_p.P296P	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	296						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCAAAGAGTCCGGCAGTCCAT	0.423000													4	60					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112143976	112143976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112143976C>T	ENST00000412145.1	-	20	4780	c.2227G>A	c.(2227-2229)Gtc>Atc	p.V743I	PTPN3_ENST00000374541.2_Missense_Mutation_p.V874I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V720I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V342I|PTPN3_ENST00000446349.1_Missense_Mutation_p.V698I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	874	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATTTTTCGGACAATATCCAGT	0.512000													4	92					0	0	1	0	0
PBK	55872	broad.mit.edu	37	8	27668569	27668569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27668569G>A	ENST00000301905.4	-	7	1141	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.D237D	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	226	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TGTCTGCCTTGTCAGTAATAA	0.418000													7	49					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61937231	61937231	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61937231A>G	ENST00000422202.1	+	4	405		c.e4-1		COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCTCCCTGCAGTTGAGGATC	0.657000													11	16					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445390	54445390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54445390G>A	ENST00000391767.1	+	6	883	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	CACNG7_ENST00000222212.2_Missense_Mutation_p.C224Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	224				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAGCGACTGCTCCGACTAC	0.672000													6	35					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053408	21053408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21053408G>T	ENST00000339486.3	+	8	1448	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RIOK3_ENST00000581585.1_Missense_Mutation_p.K261N|RIOK3_ENST00000577501.1_Missense_Mutation_p.K277N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	277	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGATGAAAAGGAAGATAGTA	0.308000													4	29					4.096e-09	4.95403e-09	1	1	0
GPR83	10888	broad.mit.edu	37	11	94113341	94113341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94113341C>T	ENST00000243673.2	-	4	1417	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	GPR83_ENST00000539203.2_Missense_Mutation_p.V374M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	416						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V416L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557000													7	38					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122838	36122838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122838G>T	ENST00000249044.2	+	3	723	c.723G>T	c.(721-723)aaG>aaT	p.K241N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	241					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCATCAAGGATCTTCATG	0.458000													19	154					1.67942e-08	2.01326e-08	1	1	0
MXRA8	54587	broad.mit.edu	37	1	1290239	1290239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1290239G>A	ENST00000309212.6	-	5	802	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	MXRA8_ENST00000445648.2_Missense_Mutation_p.R258C|MXRA8_ENST00000342753.4_Missense_Mutation_p.R157C	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	258	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGATACGCAGTGAGAAG	0.677000													11	8					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124621457	124621457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124621457C>A	ENST00000403470.1	-	2	136	c.81G>T	c.(79-81)aaG>aaT	p.K27N	VSIG2_ENST00000326621.5_Missense_Mutation_p.K27N			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	27	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGTGGGTACCTTCACCTCCA	0.657000													18	31					2.94398e-08	3.51695e-08	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605655	1605655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1605655C>T	ENST00000382171.2	-	1	858	c.825G>A	c.(823-825)caG>caA	p.Q275Q	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	275						keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATCTTGCACTGGCAGCACA	0.582000													6	106					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56759926	56759926	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56759926A>T	ENST00000381295.2	+	15	2281	c.1933A>T	c.(1933-1935)Agg>Tgg	p.R645W	EXOC1_ENST00000346134.7_Missense_Mutation_p.R645W|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630W	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GACTGTCAAAAGGAACTTTGA	0.333000													8	51					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814673	23814673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23814673A>G	ENST00000264867.2	-	9	1988	c.1869T>C	c.(1867-1869)cgT>cgC	p.R623R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	623	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCGATCTTGAACGTGATCTCA	0.483000													34	68					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285453	62285453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62285453C>T	ENST00000378024.4	-	5	16710	c.16436G>A	c.(16435-16437)gGt>gAt	p.G5479D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5479	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTGGAAGACCTCCTCCGAC	0.517000													32	61					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101489459	101489459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101489459C>T	ENST00000370483.5	-	2	173	c.123G>A	c.(121-123)ggG>ggA	p.G41G	COX15_ENST00000016171.5_Silent_p.G41G|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	41					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCTGTATTGCCCTGGCCTCA	0.532000													21	23					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511763	36511763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36511763C>T	ENST00000526995.1	-	7	1440	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TRAF6_ENST00000348124.5_Silent_p.P398P	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	398	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGAGCAGTCGGTAACTGAA	0.493000													19	74					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383872	12383872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383872T>C	ENST00000356109.5	-	5	1460	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	ZNF44_ENST00000355684.5_Missense_Mutation_p.K400E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCAAAGGCTTTCCCACATACT	0.438000													5	44					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101124720	101124720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101124720G>A	ENST00000356713.4	+	6	2426	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	CNNM1_ENST00000370528.3_Missense_Mutation_p.V642M|CNNM1_ENST00000446890.1_Missense_Mutation_p.V642M|CNNM1_ENST00000370534.4_Missense_Mutation_p.V348M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	713					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGATAATGACGTGCGGAAGGT	0.512000													19	19					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114308942	114308942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114308942G>A	ENST00000261441.5	-	7	2132	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	690						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCGCCGAAACTGTTTT	0.438000													45	78					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494867	97494867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494867G>A	ENST00000305510.3	+	7	2083	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Silent_p.A637A|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	685					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCACCACAGCGGCAGGTGAGT	0.622000													4	30					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108121490	108121490	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108121490C>A	ENST00000278616.4	+	10	1683	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	ATM_ENST00000452508.2_Missense_Mutation_p.S433Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	433					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGCTGTCTCCATTACTG	0.383000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			14	96					0.00244969	0.00259885	1	1	0
NCF2	4688	broad.mit.edu	37	1	183538285	183538285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183538285C>A	ENST00000413720.1	-	6	844	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NCF2_ENST00000367535.3_Missense_Mutation_p.E235D|NCF2_ENST00000367536.1_Missense_Mutation_p.E235D|NCF2_ENST00000418089.1_Missense_Mutation_p.E154D	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	235					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCTGAAGATCTCTGGGGTTT	0.478000													9	152					1.58986e-06	1.84011e-06	1	1	0
SPEG	10290	broad.mit.edu	37	2	220309641	220309641	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220309641G>A	ENST00000312358.7	+	3	705	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.G87G	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	191					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCAGCGGGCAGACGGTCC	0.716000													18	28					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822374	95822374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95822374G>T	ENST00000416240.2	-	6	780	c.590C>A	c.(589-591)cCt>cAt	p.P197H	SLC25A13_ENST00000265631.5_Missense_Mutation_p.P197H|SLC25A13_ENST00000542654.1_Missense_Mutation_p.P89H	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	197					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTACAAAAGGAGTCAAGAC	0.418000													5	78					0.000602214	0.000649039	1	1	0
TIE1	7075	broad.mit.edu	37	1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572000													35	48					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144803408	144803408	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144803408T>C	ENST00000367545.3	+	26	3571	c.3571T>C	c.(3571-3573)Tta>Cta	p.L1191L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1191					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAACATCAAGTTATTAGCTGC	0.448000													20	32					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010459	78010459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78010459C>T	ENST00000435339.2	+	2	498	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.C31C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	31						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATAATACTTGCATTGTTGATG	0.403000													82	122					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472047	77472047	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77472047G>T	ENST00000560626.2	-	4	2697	c.2222C>A	c.(2221-2223)cCt>cAt	p.P741H	PEAK1_ENST00000558305.1_Missense_Mutation_p.P741H|PEAK1_ENST00000312493.4_Missense_Mutation_p.P741H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	741					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTTGGCCACAGGCTCTTGAGT	0.507000													40	56					1.07121e-22	1.41502e-22	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128922353	128922353	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128922353A>G	ENST00000375990.3	+	26	3206	c.2803A>G	c.(2803-2805)Aaa>Gaa	p.K935E	UGGT1_ENST00000259253.6_Missense_Mutation_p.K959E			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	959					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCGCAACCAAAAGGAGATCC	0.363000													12	17					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153762600	153762600	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153762600G>A	ENST00000393562.2	-	6	1070	c.687C>T	c.(685-687)atC>atT	p.I229I	G6PD_ENST00000369620.2_Silent_p.I199I|G6PD_ENST00000393564.2_Silent_p.I199I	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	199					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTAGTGGTCGATGCGGTAGA	0.632000													22	32					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86997171	86997171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86997171C>T	ENST00000283632.4	+	7	1375	c.880C>T	c.(880-882)Cca>Tca	p.P294S	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	294										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGGCGCTGCCAGCTTTAAT	0.488000													14	218					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085261	134085261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134085261G>A	ENST00000514516.1	-	4	1402	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	AMOTL2_ENST00000513145.1_Silent_p.S350S|AMOTL2_ENST00000249883.5_Silent_p.S350S|AMOTL2_ENST00000422605.2_Silent_p.S350S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	350										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATTTCGCTTTCCAGCT	0.562000													6	64					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997350	85997350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85997350C>T	ENST00000372105.3	-	2	236	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	72						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGAACCCTGCGTATGGCCGT	0.697000													23	27					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169641	33169641	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33169641C>A	ENST00000374677.3	+	2	904	c.531C>A	c.(529-531)tcC>tcA	p.S177S	SLC39A7_ENST00000374675.3_Silent_p.S177S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	177						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTTTGCTTCCGGTGGGCTCC	0.488000													9	123					0.000442599	0.00048047	1	1	0
CWC22	57703	broad.mit.edu	37	2	180851516	180851516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180851516G>A	ENST00000410053.3	-	4	411	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.R38*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	38	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGGGGGGATCGTTCTTGTTCT	0.338000													5	16					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2026095	2026095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2026095C>T	ENST00000568546.1	+	12	1296	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	390					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGGGGTGGCTCTTTGCCAG	0.627000													36	70					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647979	34647979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34647979C>A	ENST00000537011.1	+	8	2152	c.1770C>A	c.(1768-1770)agC>agA	p.S590R	NUTM1_ENST00000438749.3_Missense_Mutation_p.S580R|NUTM1_ENST00000333756.4_Missense_Mutation_p.S562R					NUT midline carcinoma, family member 1																		CCCCCAGCAGCTGGGACCTGC	0.587000													8	59					3.09899e-07	3.63227e-07	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93826743	93826743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93826743A>G	ENST00000315765.9	+	13	2379	c.2371A>G	c.(2371-2373)Acg>Gcg	p.T791A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGGAATATACGGATGGAGA	0.463000													60	61					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60072628	60072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60072628G>A	ENST00000397786.2	-	10	2142	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	689					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTGTTCTGCATCAGATGC	0.333000													18	102					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632041	206632041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632041C>T	ENST00000419187.2	+	19	2197	c.534C>T	c.(532-534)tcC>tcT	p.178_178insS	SRGAP2_ENST00000414007.1_Silent_p.S720S			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	0					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAGCAGTTCCCTGACTGACT	0.572000													4	10					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227731	10227731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10227731C>T	ENST00000280330.8	-	6	638	c.32G>A	c.(31-33)cGt>cAt	p.R11H	FAM173B_ENST00000511437.1_Missense_Mutation_p.R175H|FAM173B_ENST00000510047.1_Missense_Mutation_p.R158H|FAM173B_ENST00000510052.1_5'UTR			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	175						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCAAGTTCACGTTCAAGTTT	0.473000													12	23					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63747715	63747715	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63747715C>A	ENST00000316754.3	+	3	726	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RHOJ_ENST00000555125.1_Silent_p.L88L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	88					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGAGGCCACTCTCCTACCCCA	0.517000													31	40					5.60225e-13	7.08299e-13	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	G	A	rs112618911	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27327221G>A	ENST00000402394.1	-	2	282	c.14C>T	c.(13-15)aCg>aTg	p.T5M	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.T5M|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127M|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5M|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5M|CGREF1_ENST00000405600.1_Missense_Mutation_p.T5M	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	5					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567000													10	9					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214110	156214110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156214110C>T	ENST00000335852.1	-	7	1213	c.598G>A	c.(598-600)Gca>Aca	p.A200T	PAQR6_ENST00000360733.2_Missense_Mutation_p.A200T|PAQR6_ENST00000292291.5_Missense_Mutation_p.R282H|PAQR6_ENST00000356983.2_Missense_Mutation_p.A200T|PAQR6_ENST00000368270.1_Missense_Mutation_p.R258H|PAQR6_ENST00000540423.1_Missense_Mutation_p.R279H|PAQR6_ENST00000492619.1_5'UTR	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	56						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGGCTCTGCGTGATCCCAT	0.607000													8	7					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17688630	17688630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17688630C>T	ENST00000262077.2	-	2	330	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	NUP153_ENST00000537253.1_Missense_Mutation_p.E111K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	111					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTTACCTTCTGTATTACTG	0.393000													24	35					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116999977	116999977	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116999977C>T	ENST00000356083.3	+	19	3100	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P903P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGGTTTCCCGGGCCCCCTG	0.617000													24	23					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185494	140185494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140185494G>A	ENST00000458420.3	+	8	1455	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	422					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAACTGCCGCCTCGTCTTT	0.547000										HNSCC(16;0.037)			28	30					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103174910C>T	ENST00000262241.6	+	6	995	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468000													59	87					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216285518	216285518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216285518C>T	ENST00000354785.4	-	11	1922	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	FN1_ENST00000359671.1_Missense_Mutation_p.C518Y|FN1_ENST00000443816.1_Missense_Mutation_p.C518Y|FN1_ENST00000432072.2_Missense_Mutation_p.C518Y|FN1_ENST00000421182.1_Missense_Mutation_p.C518Y|FN1_ENST00000356005.4_Missense_Mutation_p.C518Y|FN1_ENST00000336916.4_Missense_Mutation_p.C518Y|FN1_ENST00000446046.1_Missense_Mutation_p.C518Y|FN1_ENST00000426059.1_Missense_Mutation_p.C518Y|FN1_ENST00000323926.6_Missense_Mutation_p.C518Y|FN1_ENST00000345488.5_Missense_Mutation_p.C518Y|FN1_ENST00000357009.2_Missense_Mutation_p.C518Y|FN1_ENST00000346544.3_Missense_Mutation_p.C518Y|FN1_ENST00000357867.4_Missense_Mutation_p.C518Y			P02751	FINC_HUMAN	fibronectin 1	518	Collagen-binding.|Fibronectin type-I 8.			C -> R (in Ref. 4; CAD97791).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAACAATGCACTGATCTGT	0.433000													19	32					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567000													51	88					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53254206	53254206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53254206G>T	ENST00000535397.1	+	13	1021	c.648G>T	c.(646-648)gaG>gaT	p.E216D	SUGT1_ENST00000310528.7_Missense_Mutation_p.E272D|SUGT1_ENST00000343788.6_Missense_Mutation_p.E304D			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	304	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AAAAGTTGGAGGGAGATGCAG	0.338000													4	91					0.00909568	0.00947522	1	1	0
GCM2	9247	broad.mit.edu	37	6	10874354	10874354	+	Silent	SNP	G	G	A	rs139538731	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10874354G>A	ENST00000379491.4	-	5	1542	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	465					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAACTGGCTCGTGGGGAATAG	0.572000													9	18					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19483525	19483525	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19483525C>T	ENST00000407835.1	+	8	820	c.564C>T	c.(562-564)taC>taT	p.Y188Y	CDC45_ENST00000404724.3_Silent_p.Y142Y|CDC45_ENST00000437685.2_Silent_p.Y220Y|CDC45_ENST00000263201.1_Silent_p.Y188Y			O75419	CDC45_HUMAN	cell division cycle 45	188					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.Y188Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTTTGACTACGAGCAGTATG	0.393000													15	147					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149927815	149927815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149927815G>A	ENST00000261797.6	+	12	2683	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	727	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCTAAAGTACACCTTCC	0.612000													14	23					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181557	57181557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181557C>T	ENST00000504228.1	+	6	1994	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A630V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A623V			Q6ZU35	K1211_HUMAN	KIAA1211	630										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGCACGCGGAAGCCCCA	0.706000													6	15					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116247761	116247761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116247761G>A	ENST00000533213.2	-	8	1118	c.817C>T	c.(817-819)Cat>Tat	p.H273Y	ABLIM1_ENST00000369266.3_Missense_Mutation_p.H17Y|ABLIM1_ENST00000392952.3_Missense_Mutation_p.H17Y|ABLIM1_ENST00000277895.5_Missense_Mutation_p.H333Y|ABLIM1_ENST00000369252.4_Missense_Mutation_p.H273Y|ABLIM1_ENST00000369253.2_Missense_Mutation_p.H17Y			O14639	ABLM1_HUMAN	actin binding LIM protein 1	333	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGTCGGGATGCCAAACGGTG	0.483000													6	176					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284492	130284492	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130284492C>T	ENST00000257359.6	-	5	2206	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	500	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGCCCGCACGGCGTGCCGT	0.667000													21	67					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49399938	49399938	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49399938C>T	ENST00000418115.1	-	4	783	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_Silent_p.K133K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	133					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTGCTTCATCTTGGCTAGCT	0.532000													31	60					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244899	141244899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141244899C>T	ENST00000287008.3	-	3	1144	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PCDH1_ENST00000536585.1_Missense_Mutation_p.D311N|PCDH1_ENST00000394536.3_Missense_Mutation_p.D333N|PCDH1_ENST00000456271.1_Missense_Mutation_p.D321N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	333	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCTGTCCAGTCGAAGA	0.557000													21	48					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135806764	135806764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135806764C>T	ENST00000264977.3	+	9	3445	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A207V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A322V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	943					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCTGGTGCAGTAACAAGG	0.318000													20	52					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381354	107381354	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107381354G>T	ENST00000372232.3	+	9	906	c.747G>T	c.(745-747)aaG>aaT	p.K249N	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.K225N	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	249					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGTGTTTTAAGATGCCACAGT	0.448000													71	130					8.79861e-51	1.18993e-50	1	1	0
DKK4	27121	broad.mit.edu	37	8	42234530	42234530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234530G>A	ENST00000220812.2	-	1	220	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	12					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAGAGCAGAGCCAGCTCAGC	0.657000													16	22					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006088	43006088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43006088G>A	ENST00000535468.1	-	25	5028	c.4942C>T	c.(4942-4944)Cgg>Tgg	p.R1648W	CUL7_ENST00000265348.3_Missense_Mutation_p.R1564W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1564					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGATTCCGTCTCTTCTCC	0.572000													13	31					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	3002825	3002825	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002825C>A	ENST00000216877.6	+	14	1660	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	PTPRA_ENST00000358719.4_Silent_p.A285A|PTPRA_ENST00000356147.3_Silent_p.A420A|PTPRA_ENST00000380393.3_Silent_p.A429A|PTPRA_ENST00000425918.2_Silent_p.A440A|PTPRA_ENST00000399903.2_Silent_p.A429A|PTPRA_ENST00000318266.5_Silent_p.A420A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTGAAGGCCTGTAACCCTC	0.587000													23	49					1.85244e-09	2.25385e-09	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70944298	70944298	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70944298T>C	ENST00000357250.6	-	35	2418		c.e35-2		COL9A1_ENST00000489611.1_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|COL9A1_ENST00000370499.4_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGCTCTACCCTGGGACAGAAA	0.408000													7	48					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127466827	127466827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466827G>A	ENST00000262461.2	+	5	1306	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A373T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	373					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAATCTTCGCCTTTGCCAA	0.398000													60	98					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519866	29519866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29519866C>T	ENST00000389048.3	-	9	2611	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	569	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGTTCTCCACTAGCACCAAG	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	38					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42293748	42293748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42293748G>A	ENST00000379310.3	-	26	3163	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	VWA8_ENST00000281496.6_Missense_Mutation_p.T1032I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGCACACTGGTAGGCTTTGC	0.378000													26	46					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85573180	85573180	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573180G>T	ENST00000295802.4	-	6	1147	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	RETSAT_ENST00000457495.2_Silent_p.I284I|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.I345I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	345					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGGGCAATAGATGTTCACCA	0.582000													50	68					3.07002e-29	4.10795e-29	1	1	0
PUS10	150962	broad.mit.edu	37	2	61198657	61198657	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61198657C>T	ENST00000316752.6	-	5	765		c.e5+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATTACTTACCCCATTTCCT	0.368000													55	121					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20137546	20137546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20137546C>A	ENST00000345530.3	-	20	2373	c.2258G>T	c.(2257-2259)aGg>aTg	p.R753M	WDR35_ENST00000416055.2_Missense_Mutation_p.R318M|WDR35_ENST00000281405.4_Missense_Mutation_p.R742M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	753										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCAAACCTGCCGAAGTA	0.448000													29	99					1.7881e-09	2.17656e-09	1	1	0
MED1	5469	broad.mit.edu	37	17	37563934	37563934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37563934G>A	ENST00000300651.6	-	17	4763	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1514	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tcccggtctcggtccctatct	0.443000										HNSCC(31;0.082)			18	34					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86399660	86399660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86399660T>C	ENST00000376371.2	-	6	932	c.532A>G	c.(532-534)Aca>Gca	p.T178A	GKAP1_ENST00000376365.3_Missense_Mutation_p.T178A	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	178					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGTGATACTGTGAGAGGTCTG	0.299000													13	139					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52407473	52407473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52407473G>A	ENST00000293662.4	+	5	537	c.457G>A	c.(457-459)Gac>Aac	p.D153N	GRASP_ENST00000552049.1_Missense_Mutation_p.D10N|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.D10N	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	153	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGGCAGGGGACACCATCGC	0.537000													18	18					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70798476	70798476	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70798476G>T	ENST00000358731.4	+	15	2362	c.2099G>T	c.(2098-2100)aGa>aTa	p.R700I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	700					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGCTTTAAGACCTGTACAA	0.383000													11	20					9.05144e-12	1.1316e-11	1	1	0
VRK1	7443	broad.mit.edu	37	14	97342375	97342375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97342375G>T	ENST00000216639.3	+	12	1226	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	359						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGAAGCGAAAGAAAGAAATTG	0.373000													13	123					0.00185496	0.00197886	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648782	75648782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75648782G>A	ENST00000361470.2	+	1	737	c.459G>A	c.(457-459)ccG>ccA	p.P153P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	153	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACCGCCT	0.672000													20	18					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544138	73544138	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73544138C>A	ENST00000224721.6	+	41	5483	c.5478C>A	c.(5476-5478)atC>atA	p.I1826I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1821	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGACCATCTGTGCCCGTG	0.637000													23	38					3.08376e-08	3.68275e-08	1	1	0
RAB40A	142684	broad.mit.edu	37	X	102754930	102754930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102754930C>T	ENST00000372633.1	-	1	2873	c.755G>A	c.(754-756)aGc>aAc	p.S252N	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S252N			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	252					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCAGAGGCTGCTCTTGTG	0.537000													10	108					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153406011	153406011	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153406011T>A	ENST00000351797.4	-	8	937	c.861A>T	c.(859-861)aaA>aaT	p.K287N	FAM114A2_ENST00000522858.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520667.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520313.1_Missense_Mutation_p.K217N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	287							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AAAATGTTTCTTTGAGTTGCT	0.333000													9	14					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372468	1372468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1372468G>A	ENST00000476993.1	+	2	313	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	79	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTGCACGTGGGCAGTCGGCC	0.677000													7	12					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13241674	13241674	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13241674G>A	ENST00000396302.3	-	3	693	c.495C>T	c.(493-495)ggC>ggT	p.G165G	GSG1_ENST00000337630.6_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000351606.6_Silent_p.G201G	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACACATACTTGCCACAAAGCC	0.532000													12	20					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221637	29221637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29221637C>T	ENST00000321990.4	+	22	5731	c.5353C>T	c.(5353-5355)Ctc>Ttc	p.L1785F		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1785					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGATCTCTTCTCTATGTGGG	0.338000													23	35					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351340	56351340	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351340G>T	ENST00000548747.1	-	6	1409	c.747C>A	c.(745-747)ggC>ggA	p.G249G	PMEL_ENST00000548493.1_Silent_p.G249G|PMEL_ENST00000449260.2_Silent_p.G249G|PMEL_ENST00000360714.4_Silent_p.G249G|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.G163G|PMEL_ENST00000552882.1_Silent_p.G249G|PMEL_ENST00000536427.1_Silent_p.G249G|PMEL_ENST00000539511.1_Silent_p.G163G			P40967	PMEL_HUMAN	premelanosome protein	249					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCCAGATAGCCACTGGGGT	0.567000													52	86					6.3008e-33	8.45967e-33	1	1	0
ZNF207	7756	broad.mit.edu	37	17	30694947	30694947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30694947G>T	ENST00000394670.4	+	10	1247	c.1078G>T	c.(1078-1080)Gcg>Tcg	p.A360S	ZNF207_ENST00000577908.1_Missense_Mutation_p.A360S|ZNF207_ENST00000342555.6_Missense_Mutation_p.A363S|ZNF207_ENST00000321233.6_Missense_Mutation_p.A344S|ZNF207_ENST00000341711.6_Missense_Mutation_p.A261S|ZNF207_ENST00000394673.2_Missense_Mutation_p.A329S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTAAACCAGCGGCTTCAAT	0.428000													6	61					0.00116845	0.00124821	1	1	0
TNS4	84951	broad.mit.edu	37	17	38645061	38645061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38645061G>A	ENST00000254051.6	-	3	758	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	200	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAAGATGAGGCTCTCACTGC	0.657000													26	44					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808276	20808276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808276C>T	ENST00000601440.1	-	4	553	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTTGTCAAACATTGGTTAAG	0.328000													24	37					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587000													64	124					0	0	1	0	0
SGK223	0	broad.mit.edu	37	8	8176527	8176527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8176527C>T	ENST00000520004.1	-	6	3622	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	SGK223_ENST00000330777.4_Missense_Mutation_p.V1120M			Q86YV5	SG223_HUMAN		1120	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGAAGCACACGCGCCGCTCG	0.667000													43	72					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152282658G>A	ENST00000368799.1	-	3	4739	c.4704C>T	c.(4702-4704)gcC>gcT	p.A1568A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587000									Ichthyosis				92	143					0	0	1	0	0
MBD5	0	broad.mit.edu	37	2	149240918	149240918	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149240918A>G	ENST00000407073.1	+	10	3755	c.2758A>G	c.(2758-2760)Agt>Ggt	p.S920G	MBD5_ENST00000404807.1_Missense_Mutation_p.S920G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	920						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCCTCCTCAGTTCTCTACC	0.463000													13	151					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438761	120438761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438761G>A	ENST00000369400.1	-	1	357	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542000													27	53					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142435204	142435204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142435204C>T	ENST00000520105.1	+	3	1105	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Silent_p.D54D|PTP4A3_ENST00000329397.1_Silent_p.D54D|PTP4A3_ENST00000349124.1_Silent_p.D54D			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	54						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGACCTATGACAAAACGCCGC	0.672000													4	17					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739032	12739032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12739032C>A	ENST00000343325.4	+	4	851	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S198Y|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.S121Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTCCAGTTCTATTCGAGTA	0.428000													15	25					0.000422831	0.000460248	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77670496	77670496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77670496C>T	ENST00000407578.2	-	57	10171	c.9905G>A	c.(9904-9906)cGc>cAc	p.R3302H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264H|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3264H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTCTACAGCGATCACATAC	0.433000													32	83					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95750652	95750652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95750652A>G	ENST00000414645.2	+	4	407	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	103						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TACTCCTATTATAAAGATATG	0.249000													4	70					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40714987	40714987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40714987A>G	ENST00000361263.4	-	3	926	c.245T>C	c.(244-246)aTc>aCc	p.I82T	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380747.1_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				ATTCCTCTGGATTGTACAAGA	0.378000													30	25					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775939	2775939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2775939A>C	ENST00000380605.2	-	12	1908	c.1844T>G	c.(1843-1845)cTc>cGc	p.L615R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	615					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTAGGTGAGGAGGGCGTC	0.567000													28	32					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916585	43916585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43916585G>T	ENST00000336086.6	-	4	4584	c.2348C>A	c.(2347-2349)tCt>tAt	p.S783Y	URGCP_ENST00000447717.3_Missense_Mutation_p.S783Y|URGCP_ENST00000443736.1_Missense_Mutation_p.S783Y|URGCP_ENST00000402306.3_Missense_Mutation_p.S817Y|URGCP_ENST00000223341.7_Missense_Mutation_p.S783Y|URGCP_ENST00000453200.1_Missense_Mutation_p.S826Y|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	826					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGGAACAGATACATCATG	0.532000													42	30					3.61848e-18	4.7115e-18	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18881653	18881653	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18881653G>A	ENST00000388995.6	-	5	1549	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	FAM83G_ENST00000345041.4_Silent_p.S442S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.S442S|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	442										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTTCATCTGGCTGGGCTGGG	0.637000													3	14					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454689	24454689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24454689G>A	ENST00000270800.1	-	5	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	204	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGGGAACGCAAATCATGA	0.557000													26	28					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826252	56826252	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56826252G>A	ENST00000229201.4	-	7	739	c.585C>T	c.(583-585)agC>agT	p.S195S	TIMELESS_ENST00000553532.1_Silent_p.S196S|TIMELESS_ENST00000554616.1_Silent_p.S196S	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	196					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CATCCAGGCCGCTGAGGTGAA	0.542000													4	75					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321294	46321294	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46321294T>G	ENST00000465950.1	-	1	2454	c.1245A>C	c.(1243-1245)gaA>gaC	p.E415D	SCAF11_ENST00000549162.1_Missense_Mutation_p.E538D|SCAF11_ENST00000419565.2_Missense_Mutation_p.E730D|SCAF11_ENST00000369367.3_Missense_Mutation_p.E730D			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	730					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CAACTTCAGATTCATTTTGGT	0.358000													50	76					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103288036	103288036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103288036C>T	ENST00000520539.1	-	46	7136	c.6530G>A	c.(6529-6531)gGa>gAa	p.G2177E	UBR5_ENST00000220959.4_Missense_Mutation_p.G2177E|UBR5_ENST00000521922.1_Missense_Mutation_p.G2171E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2177					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAACCATTCCCATAAAGCT	0.443000													12	32					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059544	248059544	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059544G>T	ENST00000537741.1	+	3	913	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OR2W3_ENST00000360358.3_Missense_Mutation_p.S219I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTCTTACAGCTACATTGTG	0.562000													64	82					1.11378e-47	1.50574e-47	1	1	0
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70919548G>A	ENST00000264436.3	-	7	1136	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_ENST00000355733.3_Missense_Mutation_p.P231L|ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L|ADD2_ENST00000413157.2_Missense_Mutation_p.P231L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	231					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587000													3	10					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148346581	148346581	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148346581C>A	ENST00000369202.1	-	2	373		c.e2+1		NBPF20_ENST00000414710.2_Splice_Site					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						ATAGATCTTACTGTATTTCTT	0.428000													5	124					1.12685e-05	1.27857e-05	1	1	0
IGLON5	402665	broad.mit.edu	37	19	51828610	51828610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51828610C>T	ENST00000270642.8	+	4	402	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	134	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						TCCCTGCCCGCATTGTGAACA	0.647000													9	19					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673879	113673879	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673879C>A	ENST00000003302.4	-	23	2931		c.e23+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGTACAAACCAGAAGGCAT	0.458000													25	87					6.32553e-13	7.99037e-13	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197402330	197402330	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197402330G>T	ENST00000273582.5	-	20	3113	c.2568C>A	c.(2566-2568)atC>atA	p.I856I	KIAA0226_ENST00000296343.5_Silent_p.I901I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	901					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAAAGGGAAAGATGATGTCAT	0.537000													15	163					0.000566183	0.000614449	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53844311	53844311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53844311A>G	ENST00000288139.3	+	48	6356	c.6238A>G	c.(6238-6240)Agc>Ggc	p.S2080G	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S2060G|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S2036G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2060					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGTGCGGACAGCTTGGTGGA	0.597000													4	54					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56382357	56382357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56382357G>T	ENST00000370754.5	-	70	18097	c.18098C>A	c.(18097-18099)tCt>tAt	p.S6033Y	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S5855Y|DST_ENST00000421834.2_Missense_Mutation_p.S3767Y|DST_ENST00000370788.2_Missense_Mutation_p.S3658Y|DST_ENST00000244364.6_Missense_Mutation_p.S3441Y|DST_ENST00000361203.3_Missense_Mutation_p.S5744Y|DST_ENST00000446842.2_Missense_Mutation_p.S5529Y|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5853					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCACCCAGAGACATCAATTT	0.388000													9	17					1.76689e-08	2.11513e-08	1	1	0
RALBP1	10928	broad.mit.edu	37	18	9533376	9533376	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9533376A>T	ENST00000019317.4	+	8	1722	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V	RALBP1_ENST00000383432.3_Missense_Mutation_p.E500V			Q15311	RBP1_HUMAN	ralA binding protein 1	500					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CTGGCCATGGAGCAGTTTCTG	0.473000													4	46					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779016	100779016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100779016G>A	ENST00000223095.4	+	7	1178	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A326T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCTCCACGTCGCGCAGGCGCT	0.582000													7	82					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934269	4934269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4934269G>A	ENST00000345988.2	-	22	4476	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R1461*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1463					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGAGTCGGAGCAGGGCA	0.647000													8	81					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44484021	44484021	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44484021G>A	ENST00000398165.3	-	9	1076	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CBS_ENST00000352178.5_Missense_Mutation_p.P273S|CBS_ENST00000359624.3_Missense_Mutation_p.P273S|CBS_ENST00000398158.1_Missense_Mutation_p.P273S|CBS_ENST00000398168.1_Missense_Mutation_p.P273S|CBS_ENST00000544202.1_Missense_Mutation_p.P185S	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	273					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CTGCATCCAGGACACTTCTCC	0.627000													7	5					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65207966	65207966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65207966C>T	ENST00000247226.7	+	14	1871	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	PLEKHG3_ENST00000484731.2_Silent_p.S82S|PLEKHG3_ENST00000471182.2_Silent_p.S110S|PLEKHG3_ENST00000394691.1_Silent_p.S577S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	577					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCTGAGCAGCGAGGAGGAAG	0.617000													8	78					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77294367	77294367	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77294367T>G	ENST00000341514.6	+	18	3700	c.3545T>G	c.(3544-3546)aTt>aGt	p.I1182S	ATP7A_ENST00000350425.4_Missense_Mutation_p.I185S|ATP7A_ENST00000343533.5_Missense_Mutation_p.I1104S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1182					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAAGTCCTCATTGGTAACCGG	0.358000													10	246					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760310	115760310	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115760310G>A	ENST00000427548.1	-	0	1503							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGACTAAAAGCTTTCCCACA	0.358000													13	27					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38940565	38940565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38940565A>G	ENST00000487273.2	+	18	2119	c.2041A>G	c.(2041-2043)Agt>Ggt	p.S681G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	681	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATACGGAGGAAGTGTGGACAG	0.418000													4	43					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57762508	57762508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57762508G>A	ENST00000269122.3	+	29	4800	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	CLTC_ENST00000393043.1_Missense_Mutation_p.R1509K|CLTC_ENST00000579456.1_Missense_Mutation_p.R446K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1509	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGTTCAGGAGAATTGCTGCT	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								43	72					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906896	129906896	+	Missense_Mutation	SNP	C	C	T	rs143061680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906896C>T	ENST00000368654.3	-	13	3583	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MKI67_ENST00000368653.3_Missense_Mutation_p.E710K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1070	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGAGACTCCTTAAACGTT	0.562000													81	118					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104490205	104490205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104490205G>A	ENST00000229330.4	+	12	1838	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	578					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGCAACGCCGTTTTCTGTAA	0.343000													31	43					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070035	4070035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4070035G>T	ENST00000274673.3	-	7	825	c.422C>A	c.(421-423)cCt>cAt	p.P141H	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	141																	TGGCAGTCCAGGGTAAGGACC	0.403000													26	44					3.6726e-16	4.7309e-16	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389271	1389271	+	Silent	SNP	G	G	A	rs71299249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1389271G>A	ENST00000324803.4	+	1	3932	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	324					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACGTGCCATTGTG	0.667000													23	156					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29048567	29048567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29048567G>A	ENST00000524189.1	-	4	208	c.170C>T	c.(169-171)gCt>gTt	p.A57V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A57V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	57	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGATCATAAGCAAACACCTG	0.343000													34	73					0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122656969	122656969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122656969G>A	ENST00000377035.1	-	3	511	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	162						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAAGTGGTGGCCTGTTGGGC	0.473000													32	52					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244611	46244611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244611C>A	ENST00000334344.6	+	15	2877	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	ARID2_ENST00000444670.1_Missense_Mutation_p.P512H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P753H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	902	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACCTCTCCCTTCTCAGCAA	0.468000			"""N, S, F"""		hepatocellular carcinoma								12	99					2.80697e-09	3.39963e-09	1	1	0
SHROOM1	134549	broad.mit.edu	37	5	132159124	132159124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132159124G>A	ENST00000378679.3	-	9	2848	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R613C|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R682C|SHROOM1_ENST00000488072.1_5'UTR	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	682	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCGCTTGGCGCCTGGCCCAC	0.677000													15	6					0	0	1	0	0
ENPP2	0	broad.mit.edu	37	8	120628563	120628563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120628563G>A	ENST00000427067.2	-	8	887	c.707C>T	c.(706-708)gCc>gTc	p.A236V	ENPP2_ENST00000259486.6_Missense_Mutation_p.A240V|ENPP2_ENST00000075322.6_Missense_Mutation_p.A240V|ENPP2_ENST00000522826.1_Missense_Mutation_p.A240V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	240					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAAAAGTGGCATCAAATAC	0.363000													4	56					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124987529	124987529	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124987529C>T	ENST00000522917.1	+	8	872	c.666C>T	c.(664-666)acC>acT	p.T222T	FER1L6_ENST00000399018.1_Silent_p.T222T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	222						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTGACACCGAGGAGCCAA	0.453000													39	52					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11863020	11863020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11863020G>A	ENST00000376592.1	-	1	282	c.154C>T	c.(154-156)Cga>Tga	p.R52*	MTHFR_ENST00000376583.3_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376585.1_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.R52*			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	52			R -> Q (in MTHFRD).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATTCCAATCGCCGCCTCATC	0.552000													9	21					0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627000													4	34					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514748	113514748	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113514748G>T	ENST00000541405.1	-	0	228				CKAP2L_ENST00000302450.6_Missense_Mutation_p.P67H|CKAP2L_ENST00000481732.1_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTTTGACAGGCAAAACAAC	0.383000													12	171					9.05144e-12	1.1316e-11	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124337336	124337336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124337336C>A	ENST00000338354.3	+	8	723	c.617C>A	c.(616-618)cCt>cAt	p.P206H	DMBT1_ENST00000368956.2_Missense_Mutation_p.P206H|DMBT1_ENST00000368909.3_Missense_Mutation_p.P206H|DMBT1_ENST00000344338.3_Missense_Mutation_p.P206H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P206H|DMBT1_ENST00000330163.4_Missense_Mutation_p.P206H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	206					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCCCAGCCTCAGTCAACA	0.512000													8	53					0.00448238	0.00472561	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126044599	126044599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126044599C>T	ENST00000318410.7	-	27	3568	c.3219G>A	c.(3217-3219)tgG>tgA	p.W1073*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.W925*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1073					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGTGGTGGCCAATCAACCG	0.522000													9	69					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756936	201756936	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201756936C>A	ENST00000409020.1	+	2	564	c.270C>A	c.(268-270)ctC>ctA	p.L90L	NIF3L1_ENST00000409588.1_Silent_p.L90L|NIF3L1_ENST00000409357.1_Silent_p.L90L|NIF3L1_ENST00000416651.1_Silent_p.L90L|NIF3L1_ENST00000359683.4_Silent_p.L63L			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	90					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACCTCATTCTCTCCTACCATC	0.522000													7	111					1	1	1	1	0
PLAU	5328	broad.mit.edu	37	10	75672800	75672800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75672800C>A	ENST00000446342.1	+	4	743	c.261C>A	c.(259-261)taC>taA	p.Y87*	PLAU_ENST00000372762.4_Nonsense_Mutation_p.Y68*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.Y104*|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Splice_Site|C10orf55_ENST00000409178.1_Splice_Site	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	104	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCAAACGTACCATGCCCACA	0.567000													21	25					3.5997e-14	4.58862e-14	1	1	0
FAM41C	0	broad.mit.edu	37	1	809594	809594	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:809594C>T	ENST00000446136.1	-	0	1099					NR_027055.1																						GGTACACGGGCGAGGGCATGG	0.527000													39	47					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422504	57422504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57422504C>T	ENST00000543257.1	-	4	739	c.173G>A	c.(172-174)tGt>tAt	p.C58Y	C8B_ENST00000535057.1_Missense_Mutation_p.C48Y|C8B_ENST00000371237.4_Missense_Mutation_p.C110Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTGGTAACACAGTCTTCGAC	0.502000													32	252					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11890911	11890911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11890911G>A	ENST00000357901.4	+	4	374	c.272G>A	c.(271-273)aGt>aAt	p.S91N	ZNF441_ENST00000454339.2_Missense_Mutation_p.S24N	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCAAGACAGTATTGTGAAC	0.398000													26	46					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234368407	234368407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234368407G>A	ENST00000264057.2	+	23	2711	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	DGKD_ENST00000409813.3_Missense_Mutation_p.R856H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	900					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567000													15	24					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649218	130649218	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130649218G>A	ENST00000229030.4	+	1	2215	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	577					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGCCCAGTCGCCCACCTGCG	0.542000													8	11					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53409155	53409155	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:53409155C>A	ENST00000502271.1	-	0	355				ARL15_ENST00000507646.2_Missense_Mutation_p.E113D|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000504924.1_Missense_Mutation_p.E113D			Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15								GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CTAAATCATCCTCTGAAGAGG	0.423000													12	23					9.31168e-06	1.06029e-05	1	1	0
TPTE	7179	broad.mit.edu	37	21	10996140	10996140	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10996140C>A	ENST00000415664.2	-	11	1346		c.e11-1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCACCAATACCTATCCAAAAA	0.378000													5	94					0.000602214	0.000649039	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17298836	17298836	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17298836C>T	ENST00000595618.1	+	19	2822	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	MYO9B_ENST00000397274.2_Silent_p.S890S|MYO9B_ENST00000594824.1_Silent_p.S890S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	890	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGGTACAGCGCCAAGTACA	0.572000													7	5					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4799092	4799092	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799092T>C	ENST00000355280.6	+	27	3525	c.3329T>C	c.(3328-3330)gTg>gCg	p.V1110A	MINK1_ENST00000453408.3_Missense_Mutation_p.V1090A|MINK1_ENST00000347992.7_Missense_Mutation_p.V1081A	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1110	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGGACCACCGTGGGGGACATG	0.552000													7	18					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489264	44489264	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44489264G>T	ENST00000425708.2	-	7	2240	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	ZNF445_ENST00000396077.2_Silent_p.T633T			P59923	ZN445_HUMAN	zinc finger protein 445	633					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCATCTAAAGGTTTTCCTAC	0.413000													10	133					2.74318e-10	3.37541e-10	1	1	0
TLE2	7089	broad.mit.edu	37	19	3013775	3013775	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3013775G>A	ENST00000262953.6	-	11	1027	c.765C>T	c.(763-765)tgC>tgT	p.C255C	TLE2_ENST00000591529.1_Silent_p.C269C|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000426948.2_Silent_p.C269C|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Silent_p.C133C|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Silent_p.C133C|TLE2_ENST00000590536.1_Silent_p.C256C	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	255	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACCTTTCCGCAGGGGGTGG	0.612000													25	52					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214695	54214695	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54214695G>A	ENST00000259782.4	+	7	1176		c.e7+1			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTCTTCCAACGTAAGTATAAA	0.353000													14	23					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097296C>T	ENST00000422989.1	-	3	909	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692000													12	14					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47184094	47184094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47184094G>A	ENST00000319190.5	+	3	833	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TTC7A_ENST00000409245.1_Silent_p.E121E|TTC7A_ENST00000394850.2_Silent_p.E155E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	155							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCCATGGAGAACAAGCCCC	0.577000													23	33					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051471	141051471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141051471C>A	ENST00000239440.4	-	11	1727	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	ARAP3_ENST00000508305.1_Missense_Mutation_p.E476D|ARAP3_ENST00000513878.1_Missense_Mutation_p.E216D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	554	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTACTATCTCATTACTCC	0.602000													7	65					0.27861	0.279982	1	1	0
ODC1	4953	broad.mit.edu	37	2	10582301	10582301	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10582301C>A	ENST00000234111.4	-	9	1261		c.e9-1		ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CGCCGGTGATCTAAGAGAGTG	0.473000													7	42					0.0477658	0.0488009	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58420585	58420585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420585C>T	ENST00000312026.5	-	3	1225	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.C353Y|ZNF417_ENST00000536263.1_Missense_Mutation_p.C155Y	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACATTCCCCACAGTGATAAGC	0.428000													13	148					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153635710	153635710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153635710C>T	ENST00000361891.4	-	11	912	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	263	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGTTTAGGGCCAAAGGCTGT	0.423000													6	244					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1857227	1857227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1857227G>A	ENST00000535046.1	+	4	826	c.826G>A	c.(826-828)Gct>Act	p.A276T	SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.A124T|SYT8_ENST00000341958.3_Intron			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	0	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGGGCCCCGCTGCGCAGGA	0.672000													12	28					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63363318	63363318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63363318C>A	ENST00000357980.4	+	10	1007	c.928C>A	c.(928-930)Ctt>Att	p.L310I	TPM1_ENST00000559397.1_Missense_Mutation_p.L268I|RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000559556.1_Missense_Mutation_p.L268I|TPM1_ENST00000267996.7_Missense_Mutation_p.L268I|TPM1_ENST00000358278.3_Missense_Mutation_p.L268I|TPM1_ENST00000404484.4_Missense_Mutation_p.L232I			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	268					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGAAAACCTTAGTATGCA	0.388000													10	84					0.000978159	0.00105116	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109392171	109392171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109392171C>T	ENST00000370001.3	-	3	1289	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AKNAD1_ENST00000369994.1_Missense_Mutation_p.E341K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E341K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E48K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	341										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGAAGTTCTTGGTGGATA	0.383000													75	66					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52900776	52900776	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52900776T>C	ENST00000261844.7	-	6	2487	c.2335A>G	c.(2335-2337)Aca>Gca	p.T779A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T786A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	779																	AATACCTCTGTATTTTTTGGT	0.318000													40	54					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846361	58846361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58846361G>A	ENST00000329665.4	+	2	340	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	65	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGGTCCACACGAGGCCCTGGC	0.642000													19	35					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144082	50144082	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144082C>T	ENST00000376025.2	-	0	1423							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R251H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GACTGATGAGCGATGGCTTCT	0.488000													10	4					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45800362	45800362	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45800362T>G	ENST00000263736.4	-	9	1351	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	430					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGGTGAATGTTTCTTATGTT	0.333000													17	23					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54885015	54885015	+	Silent	SNP	C	C	T	rs144327595	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54885015C>T	ENST00000333896.5	+	29	6421	c.6036C>T	c.(6034-6036)gaC>gaT	p.D2012D	SPTBN1_ENST00000356805.4_Silent_p.D2025D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2025	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCAAGAGACGCCAGTGTGG	0.587000											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	32					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204082138	204082138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082138C>A	ENST00000367204.1	+	2	204	c.95C>A	c.(94-96)cCt>cAt	p.P32H	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	32					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAAAGAGCCTTGCCACGAG	0.647000													12	15					2.27111e-07	2.66951e-07	1	1	0
CDK14	5218	broad.mit.edu	37	7	90613515	90613515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90613515G>T	ENST00000406263.1	+	9	1304	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CDK14_ENST00000380050.3_Nonsense_Mutation_p.G334*|CDK14_ENST00000265741.3_Nonsense_Mutation_p.G316*|CDK14_ENST00000436577.2_Nonsense_Mutation_p.G205*			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	334	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGCTTTTCCAGGAATGAAAGA	0.353000													32	99					2.20262e-25	2.92873e-25	1	1	0
STAM2	10254	broad.mit.edu	37	2	152988660	152988660	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152988660T>C	ENST00000263904.4	-	11	1342	c.993A>G	c.(991-993)ccA>ccG	p.P331P		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	331					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATCTATCATTGGACCCATCT	0.313000													23	28					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25263243	25263243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25263243G>A	ENST00000328086.7	-	4	1595	c.792C>T	c.(790-792)aaC>aaT	p.N264N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGAGACCACGTTCCCAACAT	0.448000													33	47					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131073706	131073706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131073706G>A	ENST00000352689.6	+	4	415	c.375G>A	c.(373-375)atG>atA	p.M125I	MKLN1_ENST00000421797.2_Missense_Mutation_p.M33I|MKLN1_ENST00000429546.1_Missense_Mutation_p.M33I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	125					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGAACAGATGTTCCCTTGTC	0.313000													4	45					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63055879	63055879	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63055879C>T	ENST00000561311.1	+	39	5309	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_ENST00000472902.1_Silent_p.D86D|TLN2_ENST00000306829.6_Silent_p.D1693D			Q9Y4G6	TLN2_HUMAN	talin 2	1693					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572000													9	9					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110569236	110569236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110569236G>T	ENST00000337573.5	+	5	694	c.394G>T	c.(394-396)Gca>Tca	p.A132S	EBAG9_ENST00000395785.2_Missense_Mutation_p.A132S|EBAG9_ENST00000531677.1_Missense_Mutation_p.A132S|EBAG9_ENST00000529502.1_3'UTR	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	132					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGTAGATTAGCAGCTACACA	0.343000													6	30					0.0293803	0.0301098	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91690677	91690677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91690677G>A	ENST00000359028.2	+	24	5966	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914H|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1914	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCGAGAGCGCCTTCATGAG	0.483000			T	BRAF	papillary thyroid								28	47					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104573026	104573026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104573026C>T	ENST00000369889.4	+	4	1109	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	WBP1L_ENST00000448841.1_Silent_p.L344L	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	323						integral to membrane											CGCATGCCTGCTGCTGAACAC	0.652000													3	22					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190992	17190992	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190992T>C	ENST00000265970.7	-	1	296	c.297A>G	c.(295-297)gaA>gaG	p.E99E	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	99	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTTTCTCAAGTTCAGCTTGGG	0.383000													11	170					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747186	44747186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000449767.1_Silent_p.S930S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000447398.1_Silent_p.S945S|OGDH_ENST00000543843.1_Silent_p.S885S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTAGCTGTCGCCATTCCCCT	0.552000													76	64					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971332	101971332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971332G>A	ENST00000543253.1	+	5	2454	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S512N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S512N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGATCCACAAGCCCCTTTGGA	0.512000													12	100					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125816	2125816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2125816G>A	ENST00000219476.3	+	23	3192	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	TSC2_ENST00000401874.2_Silent_p.P854P|TSC2_ENST00000568454.1_Silent_p.P865P|TSC2_ENST00000350773.4_Silent_p.P854P|TSC2_ENST00000382538.6_Silent_p.P805P|TSC2_ENST00000439673.2_Silent_p.P817P|TSC2_ENST00000353929.4_Silent_p.P854P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	854					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGGCTGCCGCACCTCTACA	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	23					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56688591	56688591	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56688591C>T	ENST00000389934.3	-	10	1232	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	TEX14_ENST00000349033.5_Missense_Mutation_p.S372N|TEX14_ENST00000240361.8_Missense_Mutation_p.S378N	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	378	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCATAGGAGCTGAGGGAGCG	0.532000													57	96					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48389680C>T	ENST00000224600.4	-	1	1311	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642000													12	26					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893799	44893799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44893799C>T	ENST00000326047.4	+	34	4221	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.R993*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1358					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTACGTAGTGCGACTAAAGAA	0.358000													15	37					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221566	43221566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43221566G>T	ENST00000422911.1	-	25	3532	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	PRDM15_ENST00000447207.2_Missense_Mutation_p.S1087Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.S1107Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.S1453Y|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.S1124Y			P57071	PRD15_HUMAN	PR domain containing 15	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCGTGATGGAGTTGACCAG	0.637000													35	44					6.50621e-10	7.96667e-10	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117156618	117156618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117156618C>A	ENST00000369486.3	-	4	1366	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	IGSF3_ENST00000369483.1_Missense_Mutation_p.D201Y|IGSF3_ENST00000318837.6_Missense_Mutation_p.D201Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	201	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATGAAATCTCGGCTCAGG	0.612000													5	53					0.000602214	0.000649039	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167825527	167825527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167825527C>T	ENST00000367848.1	-	17	2268	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	ADCY10_ENST00000367851.4_Missense_Mutation_p.A683T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A530T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	683					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACGGCCCTGGCAGCTGCACAG	0.473000													79	100					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791385	110791385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791385A>G	ENST00000327908.3	+	4	1695	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	LRIT3_ENST00000409621.2_Missense_Mutation_p.S311G|LRIT3_ENST00000594814.1_Missense_Mutation_p.S494G|LRIT3_ENST00000379920.3_Missense_Mutation_p.S449G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	449						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGGTGGTCAGTGAGACTAA	0.458000													9	80					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395143	107395143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395143A>C	ENST00000008527.5	-	5	1466	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	200					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCTGTATCAAAACCTACAAG	0.348000													19	37					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187495528	187495528	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187495528T>A	ENST00000261023.3	+	5	802	c.528T>A	c.(526-528)gaT>gaA	p.D176E	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.D130E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	176					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTTAGAAGATATTGATGCTG	0.294000													18	185					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135732581	135732581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135732581G>A	ENST00000367800.4	-	19	3082	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AHI1_ENST00000457866.2_Missense_Mutation_p.P956S|AHI1_ENST00000327035.6_Missense_Mutation_p.P956S|AHI1_ENST00000417892.2_Missense_Mutation_p.P310S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	956						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGATGGGGTAGTTTTGGA	0.428000													29	57					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62557707	62557707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62557707C>A	ENST00000262435.9	-	12	1414	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	409					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTTCATGACCTGTCGATATG	0.373000													16	29					0.0242445	0.0249276	1	1	0
FAT2	2196	broad.mit.edu	37	5	150945768	150945768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945768T>C	ENST00000261800.5	-	1	2737	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	909	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGGTCAGTGACAGAGAAG	0.562000													13	31					0	0	1	0	0
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	G	A	rs113942095	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537000													19	47					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089566	220089566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220089566G>A	ENST00000409618.1	-	8	966	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ATG9A_ENST00000396761.2_Missense_Mutation_p.P176L|ATG9A_ENST00000409422.1_Missense_Mutation_p.P115L|ATG9A_ENST00000361242.4_Missense_Mutation_p.P176L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	176					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGCAATACGGAAGGGCAGA	0.567000													18	25					0	0	1	0	0
SLC22A20	0	broad.mit.edu	37	11	65000723	65000723	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65000723G>A	ENST00000525437.1	+	0	1184							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCAACACCCCGGCCATGCTGG	0.602000													3	38					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239717	126239717	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126239717C>T	ENST00000394329.3	+	1	2164	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	717	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACCCAGACTTGGGTACCA	0.488000													18	43					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381794	108381794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381794C>T	ENST00000265843.4	-	6	4550	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	EXPH5_ENST00000428840.1_Silent_p.Q1404Q|EXPH5_ENST00000525344.1_Silent_p.Q1473Q|EXPH5_ENST00000443411.1_Silent_p.Q1292Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1480					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCCTAGGCTGTGATCCAC	0.483000													12	17					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686866	112686866	+	Silent	SNP	C	C	T	rs137909193	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112686866C>T	ENST00000295408.4	+	2	488	c.231C>T	c.(229-231)aaC>aaT	p.N77N	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Silent_p.N77N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	77					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACAGGAAACGTAGCCATTC	0.507000													7	23					0	0	1	0	0
URAD	646625	broad.mit.edu	37	13	28562669	28562669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28562669G>A	ENST00000332715.4	-	1	105	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		GAGAATGGCCGCTGGGACCAA	0.468000													19	18					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656183	656183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656183A>G	ENST00000380907.2	-	1	780	c.762T>C	c.(760-762)atT>atC	p.I254I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	254										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TATTGTCCCAAATATTGCACA	0.443000													15	140					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13868588	13868588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13868588C>A	ENST00000284951.5	-	7	737	c.663_splice	c.e7+1	p.L221_splice	SEL1L2_ENST00000378072.5_Splice_Site_p.L221_splice|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	221						integral to membrane	binding	p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358000													7	52					0.00307968	0.00325696	1	1	0
NXPE1	120400	broad.mit.edu	37	11	114401047	114401047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114401047G>A	ENST00000536312.1	-	6	1575	c.683C>T	c.(682-684)gCt>gTt	p.A228V	NXPE1_ENST00000424269.1_Missense_Mutation_p.A228V|NXPE1_ENST00000251921.2_Missense_Mutation_p.A86V					neurexophilin and PC-esterase domain family, member 1																		ACAGAGTTCAGCATTTGAGTT	0.443000													27	49					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125302182	125302182	+	Silent	SNP	G	G	A	rs138402577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125302182G>A	ENST00000339570.5	-	2	394	c.198C>T	c.(196-198)tcC>tcT	p.S66S	SCARB1_ENST00000544327.1_Silent_p.S12S|SCARB1_ENST00000541205.1_Silent_p.S25S|SCARB1_ENST00000540495.1_Silent_p.S29S|SCARB1_ENST00000546215.1_Silent_p.S66S|SCARB1_ENST00000415380.2_Silent_p.S66S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Silent_p.S66S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	66					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGAAGTAGACGGAGAGATAGA	0.587000													12	63					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256926	24256926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256926G>A	ENST00000538205.1	+	11	1260	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R238Q|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.R317Q|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	317	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAACAATCGACGTGTGGGA	0.388000													47	70					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15609980	15609980	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15609980C>A	ENST00000427411.1	-	5	656		c.e5-1		ACE2_ENST00000252519.3_Splice_Site	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAAACCTGTTATCCCA	0.378000													9	232					3.86212e-05	4.30401e-05	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124950731	124950731	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124950731G>A	ENST00000404121.2	-	0	848				NCOR2_ENST00000404621.1_Silent_p.Y231Y|NCOR2_ENST00000397355.1_Silent_p.Y231Y|NCOR2_ENST00000429285.2_Silent_p.Y231Y|NCOR2_ENST00000405201.1_Silent_p.Y231Y|NCOR2_ENST00000356219.3_Silent_p.Y231Y	NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTTCTCGTCGTAGATGATCT	0.657000													30	50					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739847	145739847	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145739847T>C	ENST00000428558.2	-	10	1724	c.1683A>G	c.(1681-1683)caA>caG	p.Q561Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	561	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATTCCCGTTGCTTCCTGG	0.647000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	21					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120274	64120274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64120274G>A	ENST00000356786.5	+	20	3459	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	CCDC88B_ENST00000359902.2_Missense_Mutation_p.A291T|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1139					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCCTGCTGGCAGAGCGTGA	0.677000													12	27					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14555201	14555201	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14555201G>A	ENST00000273083.3	-	0	1675							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCAGCACGACCTTGTGGG	0.622000													6	12					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2580303	2580303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2580303C>T	ENST00000413459.3	+	11	1397	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000382350.1_3'UTR|CEMP1_ENST00000567119.1_3'UTR	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGCTGGAGGGCAGTATGGGAG	0.582000													18	23					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93940768	93940768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93940768C>T	ENST00000412050.4	-	4	1193	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	CPEB3_ENST00000265997.4_Missense_Mutation_p.G392R	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	392							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAATTTATCCCCATGCGTCCt	0.259000													10	55					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160848	51160848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160848G>A	ENST00000414786.2	+	21	4772	c.4545G>A	c.(4543-4545)tcG>tcA	p.S1515S	SHANK3_ENST00000445220.2_Silent_p.S1531S|SHANK3_ENST00000262795.3_Silent_p.S1545S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1545										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAAGAAGTCGCCCATCGCAG	0.652000													11	16					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96691079	96691079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96691079C>T	ENST00000261211.3	-	9	1445	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	CDK17_ENST00000543119.2_Missense_Mutation_p.C281Y|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.C228Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	281	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GATGTTTCCACAGTCATCCAT	0.343000													4	34					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361049	70361049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361049G>A	ENST00000305107.6	-	1	577	c.531C>T	c.(529-531)ggC>ggT	p.G177G	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.G41G|UGT2B4_ENST00000512583.1_Silent_p.G177G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	177					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAATTGCGTAGCCAGGAGAGA	0.458000													16	27					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060232	74060232	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74060232A>C	ENST00000307877.2	-	4	547	c.386T>G	c.(385-387)aTg>aGg	p.M129R	SRP68_ENST00000539137.1_Missense_Mutation_p.M91R|SRP68_ENST00000355113.5_Missense_Mutation_p.M28R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	129					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCAGCATCCATCAGAACCAG	0.493000													40	55					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193804	114193804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114193804G>A	ENST00000434316.2	+	10	2031	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	558						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTGGCCATCGTTTTCTTCGC	0.502000													10	24					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65052275	65052275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65052275G>A	ENST00000226021.3	+	4	628	c.557G>A	c.(556-558)tGt>tAt	p.C186Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	186					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GCCTGCGCCTGTGCCGCCTTC	0.602000													18	41					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792355	792355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:792355C>A	ENST00000320230.5	-	8	1172	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A231S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	231						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACACAGCCGGCCAGGAAGGAC	0.667000													9	96					2.17888e-05	2.45068e-05	1	1	0
QTRT1	81890	broad.mit.edu	37	19	10823678	10823678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10823678G>A	ENST00000250237.5	+	9	1031	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	341					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAACACGGCCGCGCTGCACCA	0.682000													11	17					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505375	157505375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157505375A>G	ENST00000346085.5	+	13	3357	c.3356A>G	c.(3355-3357)aAc>aGc	p.N1119S	ARID1B_ENST00000350026.5_Missense_Mutation_p.N1106S|ARID1B_ENST00000275248.4_Missense_Mutation_p.N1101S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1159S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1106	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTAATAAAAACAAGAAGTGG	0.433000													18	19					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21075617	21075617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21075617A>C	ENST00000255882.6	-	43	5171	c.5085T>G	c.(5083-5085)atT>atG	p.I1695M	PI4KA_ENST00000572273.1_Missense_Mutation_p.I1637M|PI4KA_ENST00000414196.3_Missense_Mutation_p.I447M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1637	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCTAGATAAATGTTAGTCT	0.502000													36	57					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30791130	30791130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30791130G>A	ENST00000261712.3	+	4	645	c.382G>A	c.(382-384)Gct>Act	p.A128T	PSMD11_ENST00000457654.2_Missense_Mutation_p.A128T	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CTTACGCCAAGCTTTGGAGGT	0.423000													45	92					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112406897	112406897	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406897G>T	ENST00000302475.4	-	10	1812	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M	MCC_ENST00000515367.2_Missense_Mutation_p.L354M|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.L607M	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	417					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTATGGTCAGGAGGTCATTT	0.453000													41	103					3.38236e-24	4.48518e-24	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22927938	22927938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22927938C>A	ENST00000166244.3	+	16	2947	c.2875C>A	c.(2875-2877)Ctg>Atg	p.L959M		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	959	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATACTCCTCTCTGGGCATGGT	0.711000													17	39					6.49762e-13	8.19883e-13	1	1	0
RFX4	5992	broad.mit.edu	37	12	107033141	107033141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107033141G>A	ENST00000392842.1	+	3	576	c.162G>A	c.(160-162)aaG>aaA	p.K54K	RFX4_ENST00000357881.4_Silent_p.K63K|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	54					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCATCCAAGCCCCACTCCA	0.383000													25	27					0	0	1	0	0
BLCAP	10904	broad.mit.edu	37	20	36147459	36147459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36147459G>A	ENST00000414542.2	-	3	565	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000373537.2_Missense_Mutation_p.R40W|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptosis|cell cycle	integral to membrane		p.R40W(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567000													14	16					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10886449	10886449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10886449C>T	ENST00000314646.5	+	4	620	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.I152I|DNM2_ENST00000359692.6_Silent_p.I152I|DNM2_ENST00000389253.4_Silent_p.I152I|DNM2_ENST00000585892.1_Silent_p.I152I|DNM2_ENST00000355667.6_Silent_p.I152I			P50570	DYN2_HUMAN	dynamin 2	152					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCAGACATCGAGTACCAGA	0.582000			"""F, N, Splice, Mis, O"""		ETP ALL								9	154					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68293208	68293208	+	Missense_Mutation	SNP	G	G	A	rs138261353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68293208G>A	ENST00000219345.5	+	6	970	c.887G>A	c.(886-888)cGc>cAc	p.R296H	PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R96H|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R202H	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	296					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGGACTACCGCAAGTTCTTC	0.582000													30	29					0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2729409	2729409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729409G>A	ENST00000426774.1	+	9	668	c.445G>A	c.(445-447)Gta>Ata	p.V149I	XG_ENST00000381174.5_Missense_Mutation_p.V148I|XG_ENST00000419513.2_Missense_Mutation_p.V163I	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	148						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCTCCCATCGTATCCGTGGT	0.443000													3	22					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729544	22729544	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729544G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCACCATCGCCCACAACAA	0.403000													32	41					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227997	44227997	+	Missense_Mutation	SNP	G	G	A	rs145497659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44227997G>A	ENST00000275015.5	-	5	1219	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	407					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCAGCGCTGTCTTACC	0.617000													23	33					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065232	23065232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065232T>C	ENST00000246006.4	-	1	1745	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	533					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCAGCATCTTGAGTGGGGC	0.672000													31	47					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73577639	73577639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73577639A>G	ENST00000261973.7	+	15	2078	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	RBM25_ENST00000527432.1_Missense_Mutation_p.E598G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	598	Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaaaaacgagaagaaCCCATG	0.493000													13	6					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30343762	30343762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30343762C>T	ENST00000361371.4	-	7	965	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LTN1_ENST00000389195.2_Missense_Mutation_p.R318H|LTN1_ENST00000389194.2_Missense_Mutation_p.R318H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	272							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATAAGCTGAGCGAATCTAAAA	0.358000													62	74					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159569700	159569700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159569700G>A	ENST00000307765.5	+	17	2057	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	RXFP1_ENST00000448688.2_Missense_Mutation_p.M497I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M521I|RXFP1_ENST00000343542.5_Missense_Mutation_p.M554I|RXFP1_ENST00000470033.1_Missense_Mutation_p.M569I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	602						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGGAAGCATGTTTTATAGTG	0.289000													20	46					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140347587	140347587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140347587T>C	ENST00000371475.3	-	9	1199	c.968A>G	c.(967-969)gAg>gGg	p.E323G	NSMF_ENST00000371473.3_Missense_Mutation_p.E293G|NSMF_ENST00000371468.1_Missense_Mutation_p.E56G|NSMF_ENST00000392812.4_Missense_Mutation_p.E300G|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.E300G|NSMF_ENST00000265663.7_Missense_Mutation_p.E321G|NSMF_ENST00000541195.1_Missense_Mutation_p.E120G|NSMF_ENST00000371474.3_Missense_Mutation_p.E298G|NSMF_ENST00000371472.2_Missense_Mutation_p.E321G|NSMF_ENST00000339554.3_Missense_Mutation_p.E120G	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		GTCCAGGTCCTCGAAGGCCTC	0.657000													4	45					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41235124	41235124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41235124G>T	ENST00000263370.2	+	3	1306	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	425						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGGCAGGAGAGGATGGTCG	0.532000													4	30					0.0215528	0.0221649	1	1	0
PSMB4	5692	broad.mit.edu	37	1	151372573	151372573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151372573G>A	ENST00000290541.6	+	2	311	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACATCTCTCGCATTATGCGA	0.547000													101	138					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361390	193361390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193361390C>A	ENST00000361510.2	+	15	1685	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	OPA1_ENST00000392438.3_Missense_Mutation_p.P429H|OPA1_ENST00000361908.3_Missense_Mutation_p.P466H|OPA1_ENST00000361828.2_Missense_Mutation_p.P447H|OPA1_ENST00000361150.2_Missense_Mutation_p.P430H|OPA1_ENST00000361715.2_Missense_Mutation_p.P448H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	429					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGCAGAATCCTAATGCCATC	0.328000													5	49					5.9392e-07	6.91975e-07	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228884074G>A	ENST00000392056.3	-	7	1542	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527000													15	24					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42678608	42678608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678608C>T	ENST00000232978.8	+	13	1600	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	471	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAATCTTCCACTCGAAGA	0.378000													21	38					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123185184	123185184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185184C>T	ENST00000371160.1	+	13	1426	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	STAG2_ENST00000354548.5_Missense_Mutation_p.T310I|STAG2_ENST00000218089.9_Missense_Mutation_p.T379I|STAG2_ENST00000371145.3_Missense_Mutation_p.T379I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.T379I|STAG2_ENST00000371157.3_Missense_Mutation_p.T379I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	379					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTGTCTATGACCCTTGACAAA	0.284000													30	58					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169510	169510	+	Missense_Mutation	SNP	C	C	T	rs149174138	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169510C>T	ENST00000283426.6	+	12	2514	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552000													43	79					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167681	21167681	+	Missense_Mutation	SNP	C	C	T	rs142040605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21167681C>T	ENST00000555835.1	+	2	827	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.R51C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R51C|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.R51C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGCAGTGATCGCTACTGCAA	0.532000													8	73					0	0	1	0	0
FAM20B	9917	broad.mit.edu	37	1	179013184	179013184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179013184G>A	ENST00000263733.4	+	2	538	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	68						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGAGATTGCAGCCCAGTGGGT	0.582000													14	43					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48621374	48621374	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48621374G>A	ENST00000264319.7	-	0	932				FRYL_ENST00000507711.1_Missense_Mutation_p.R110C|FRYL_ENST00000537810.1_Missense_Mutation_p.R110C|FRYL_ENST00000503238.1_Missense_Mutation_p.R110C|FRYL_ENST00000358350.4_Missense_Mutation_p.R110C			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCTTTCACGTTGCTGTTCA	0.333000													21	22					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117492100	117492100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492100C>T	ENST00000393203.2	+	4	1266	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	373	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTATTACTGCCACGTGTCCC	0.552000													36	42					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961845	10961845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10961845C>T	ENST00000240691.2	-	1	922	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	277					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGAATGGCTTGATGGGAA	0.373000													8	76					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80866931	80866931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80866931C>T	ENST00000424347.2	+	9	1466	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	CEP78_ENST00000415759.2_Missense_Mutation_p.R394C|CEP78_ENST00000376597.4_Missense_Mutation_p.R394C|CEP78_ENST00000277082.5_Missense_Mutation_p.R393C|CEP78_ENST00000376598.2_Missense_Mutation_p.R393C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	393					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTGCCGTGGCGTACTGCAGA	0.403000													4	17					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61083899	61083899	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61083899T>C	ENST00000196169.3	+	9	1370	c.582T>C	c.(580-582)gtT>gtC	p.V194V	TDRD3_ENST00000377894.2_Silent_p.V194V|TDRD3_ENST00000535286.1_Silent_p.V287V|TDRD3_ENST00000377881.2_Silent_p.V194V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	194	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTCCAGGTTGATGAGAAAG	0.408000													18	176					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43249743	43249743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43249743C>T	ENST00000372874.4	-	10	1025	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Silent_p.P273P	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	297			P -> Q (in ADASCID; dbSNP:rs121908718).		adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.483000									Adenosine Deaminase Deficiency				33	39					0	0	1	0	0
PFDN6	10471	broad.mit.edu	37	6	33257675	33257675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33257675G>T	ENST00000463584.1	+	1	124	c.42G>T	c.(40-42)gaG>gaT	p.E14D	PFDN6_ENST00000374610.2_Missense_Mutation_p.E14D|PFDN6_ENST00000374606.5_Missense_Mutation_p.E14D|PFDN6_ENST00000395131.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374607.1_Missense_Mutation_p.E14D			O15212	PFD6_HUMAN	prefoldin subunit 6	14					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						GAGAAGTGGAGAAATATCAAC	0.537000													22	30					3.7963e-18	4.94062e-18	1	1	0
C3	718	broad.mit.edu	37	19	6714041	6714041	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714041G>T	ENST00000245907.6	-	7	827	c.735C>A	c.(733-735)atC>atA	p.I245I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	245					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTCGTTATAGATGTAGTAGA	0.612000													4	80					0.00909568	0.00947522	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740152	37740152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37740152C>T	ENST00000539465.1	+	15	2220	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	FRMPD1_ENST00000541302.1_Missense_Mutation_p.R412C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R365C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R543C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	543						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGACAGGCGCCTGGTGAA	0.597000													35	58					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74394562	74394562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74394562G>A	ENST00000319380.7	-	11	1951	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	629							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTCCACGTCGTCCCCACTCG	0.607000											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	67					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610649	83610649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83610649G>T	ENST00000265362.3	-	14	1954	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P547H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	547					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGCAGTGGGAAAATAGCG	0.408000													11	28					2.80697e-09	3.39963e-09	1	1	0
MEIS3	56917	broad.mit.edu	37	19	47920151	47920151	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47920151G>A	ENST00000331559.5	-	3	696	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MEIS3_ENST00000441740.2_Silent_p.D85D|MEIS3_ENST00000559524.1_Silent_p.D85D|MEIS3_ENST00000558555.1_Silent_p.D85D|MEIS3_ENST00000561096.1_Silent_p.D173D|MEIS3_ENST00000561293.1_Silent_p.D85D	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCCGGCCCCGTCACGGGGAG	0.617000													8	8					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69750132	69750132	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69750132A>C	ENST00000395198.3	-	14	1716	c.1469T>G	c.(1468-1470)cTt>cGt	p.L490R	HERC4_ENST00000277817.6_Missense_Mutation_p.L380R|HERC4_ENST00000373700.4_Missense_Mutation_p.L490R|HERC4_ENST00000412272.2_Missense_Mutation_p.L490R|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	490					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTTAGGAATAAGATTCTTTTC	0.328000													9	39					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196053893	196053893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196053893G>A	ENST00000446879.1	-	3	337	c.212C>T	c.(211-213)gCa>gTa	p.A71V	TM4SF19_ENST00000454715.1_Intron|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A71V			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	71						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGGATAGCTGCAGTGAGTAC	0.532000													7	17					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955686	32955686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32955686C>T	ENST00000399302.2	+	4	2830	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	QSER1_ENST00000527788.1_Missense_Mutation_p.S593L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	832										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTCTTGGATCGATGTGTTTC	0.363000													34	61					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473928	64473928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64473928T>C	ENST00000358025.3	+	31	4795	c.4565T>C	c.(4564-4566)tTg>tCg	p.L1522S	SYNE2_ENST00000344113.4_Missense_Mutation_p.L1522S|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1522S|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAAGCCTTGGTCACCGAA	0.378000													79	106					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55064983	55064983	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55064983A>G	ENST00000526016.1	-	0	442					NR_038174.2																						GGTGGTTTCCATGTTCAGGTT	0.408000													6	57					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627518	187627518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187627518C>T	ENST00000304698.5	+	8	2652	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	817						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAAGAAGCGAGAGGAACG	0.433000													16	26					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45809567	45809567	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45809567A>G	ENST00000327619.5	+	14	1792	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	EYA2_ENST00000317304.6_Missense_Mutation_p.Y443C|EYA2_ENST00000357410.3_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	473					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGAACATCTACAGTGCAACC	0.527000													20	11					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110388120	110388120	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110388120G>A	ENST00000519681.1	+	7	751	c.309G>A	c.(307-309)acG>acA	p.T103T	PAK3_ENST00000372010.1_Intron|PAK3_ENST00000417227.1_Silent_p.T103T|PAK3_ENST00000360648.4_Silent_p.T103T|PAK3_ENST00000372007.4_Intron|PAK3_ENST00000518291.1_Silent_p.T103T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000262836.4_Intron			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	95	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GACCTGTGACGGTCGCTTCAA	0.368000										TSP Lung(19;0.15)			3	6					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156555833	156555833	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156555833A>G	ENST00000353442.4	-	7	824	c.588T>C	c.(586-588)tgT>tgC	p.C196C	LMBR1_ENST00000354505.4_Silent_p.C196C|LMBR1_ENST00000540390.1_Silent_p.C175C|LMBR1_ENST00000359422.4_Silent_p.C44C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	196						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCAATGATATACAGGAATATA	0.294000													4	40					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893070	76893070	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76893070A>T	ENST00000409709.3	+	24	3250	c.2978A>T	c.(2977-2979)gAg>gTg	p.E993V	MYO7A_ENST00000409893.1_Missense_Mutation_p.E993V|MYO7A_ENST00000409619.2_Missense_Mutation_p.E982V|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGAGGATGAGGAGGACCTC	0.612000													7	53					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273240	18273240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18273240C>T	ENST00000593731.1	+	9	1593	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIK3R2_ENST00000222254.7_Missense_Mutation_p.R345W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	345	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGAGAAACTCCGGGACACTCC	0.612000													8	21					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105891158	105891158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105891158C>T	ENST00000357060.3	-	37	4877	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	WDR96_ENST00000428666.1_Missense_Mutation_p.A1560T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1588										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCTTAGGGCATAATTTGCT	0.358000													8	69					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192544	133192544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133192544C>T	ENST00000388996.4	-	4	1057	c.637G>A	c.(637-639)Gtt>Att	p.V213I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V213I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V93I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	213					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACAGCAACCACTGGCACA	0.582000													16	53					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5692115	5692115	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5692115G>A	ENST00000425013.2	-	14	2141	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	RNF216_ENST00000389902.3_Silent_p.L696L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	639					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTTCTTTCCAGAGTCCCTGAC	0.478000													6	174					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802252	27802252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27802252C>A	ENST00000408964.2	+	1	2864	c.2813C>A	c.(2812-2814)cCt>cAt	p.P938H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	938										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGATGGAACCTTCCCAGAGC	0.403000													5	39					1.23904e-05	1.39987e-05	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109687614	109687614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109687614A>G	ENST00000277225.5	+	3	1710	c.1421A>G	c.(1420-1422)gAa>gGa	p.E474G	ZNF462_ENST00000457913.1_Missense_Mutation_p.E474G			Q96JM2	ZN462_HUMAN	zinc finger protein 462	474					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGTGACGAATGTCCGTTT	0.468000													17	44					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410669	103410669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410669G>A	ENST00000361246.2	-	30	4255	c.3967C>T	c.(3967-3969)Ccg>Tcg	p.P1323S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1323	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGTTTCCGGAAGCTTGATG	0.562000													17	14					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185067296	185067296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067296G>T	ENST00000367510.3	+	5	845	c.557G>T	c.(556-558)aGc>aTc	p.S186I	RNF2_ENST00000367509.4_Missense_Mutation_p.S114I	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	186					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCCACACATAGCAATCAGGAA	0.433000													8	66					0.00307968	0.00325696	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72024615	72024615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72024615T>C	ENST00000378743.3	-	17	3948	c.3590A>G	c.(3589-3591)gAt>gGt	p.D1197G		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1197					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGACAATCATCATCATTACA	0.333000													3	58					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642355	111642355	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111642355C>T	ENST00000502935.1	-	10	995	c.876G>A	c.(874-876)gaG>gaA	p.E292E	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Silent_p.E292E|XPNPEP1_ENST00000369680.4_Silent_p.E249E|XPNPEP1_ENST00000369683.1_Silent_p.E178E			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	249					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GAAGCAGGTGCTCCTTCACAC	0.557000													29	48					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390944	1390944	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1390944C>T	ENST00000313408.7	+	5	326	c.303C>T	c.(301-303)taC>taT	p.Y101Y	NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000539480.1_Silent_p.Y101Y|NDUFS7_ENST00000546283.1_Silent_p.Y101Y|NDUFS7_ENST00000233627.9_Silent_p.Y101Y|NDUFS7_ENST00000414651.2_Silent_p.Y131Y			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	101					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CACCCCGCTACGACATGGACC	0.667000													4	37					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958464	122958464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122958464C>T	ENST00000543897.1	-	12	3345	c.990G>A	c.(988-990)ccG>ccA	p.P330P	ZCCHC8_ENST00000538116.1_Silent_p.P179P|ZCCHC8_ENST00000536306.1_Silent_p.P330P|ZCCHC8_ENST00000336229.4_Silent_p.P568P			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	568						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTTCCCTCCGGGACAGGGA	0.502000													103	172					0	0	1	0	0
IGLV2-23	0	broad.mit.edu	37	22	23040692	23040692	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23040692A>C	ENST00000390306.2	+	0	302																											ACCAGCAGTGATGTTGGGAGT	0.567000													80	154					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777567	237777567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237777567C>A	ENST00000366574.2	+	37	5456	c.5139C>A	c.(5137-5139)tcC>tcA	p.S1713S	RYR2_ENST00000542537.1_Silent_p.S1697S|RYR2_ENST00000360064.6_Silent_p.S1711S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1713	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGAGCTCCTATGCCACTG	0.507000													4	34					0.150653	0.152692	1	1	0
TCF19	6941	broad.mit.edu	37	6	31129330	31129330	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31129330G>A	ENST00000376257.3	+	3	1099	c.345G>A	c.(343-345)tcG>tcA	p.S115S	TCF19_ENST00000376255.4_Silent_p.S115S|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	115					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGCCCCTCGGAGTTCTACT	0.562000													9	77					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175323	143175323	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175323C>A	ENST00000408916.1	+	1	358	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	120					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCCACCTTCCTGTGGCTGAA	0.522000													13	60					4.3838e-07	5.12524e-07	1	1	0
PNCK	139728	broad.mit.edu	37	X	152938140	152938140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152938140G>A	ENST00000393831.2	-	3	515	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PNCK_ENST00000340888.3_Silent_p.S27S|PNCK_ENST00000370142.1_Silent_p.S27S|PNCK_ENST00000370150.1_Silent_p.S27S|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.S110S|PNCK_ENST00000370145.4_Silent_p.S44S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	27	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCACCTCGGAGAAGGCAC	0.701000													16	24					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7519886	7519886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7519886G>T	ENST00000313599.3	-	18	4282	c.4225C>A	c.(4225-4227)Cat>Aat	p.H1409N	CD163L1_ENST00000416109.2_Missense_Mutation_p.H1419N|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1409						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCATCTCATGGAATAAATTC	0.488000													15	26					6.49762e-13	8.19883e-13	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12343686	12343686	+	Missense_Mutation	SNP	G	G	A	rs149109225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12343686G>A	ENST00000358136.3	+	21	5657	c.5527G>A	c.(5527-5529)Gca>Aca	p.A1843T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A1843T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1843					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGACAACCACGCAATGAGGCT	0.483000													45	77					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310771	171310771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171310771G>T	ENST00000367749.3	+	10	1800	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	490					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACCCAGTGGGACAGAACAT	0.488000													11	49					3.86212e-05	4.30401e-05	1	1	0
LARP4	113251	broad.mit.edu	37	12	50829388	50829388	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829388A>G	ENST00000398473.2	+	5	628	c.516A>G	c.(514-516)ctA>ctG	p.L172L	LARP4_ENST00000293618.8_Silent_p.L172L|LARP4_ENST00000518444.1_Silent_p.L171L|LARP4_ENST00000518561.1_Silent_p.L102L|LARP4_ENST00000522085.1_Silent_p.L172L|LARP4_ENST00000429001.3_Silent_p.L178L|LARP4_ENST00000347328.5_Silent_p.L172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	172	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCCTGATCTAATTCTTGAAG	0.294000													4	57					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139278098	139278098	+	Missense_Mutation	SNP	C	C	T	rs145651274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139278098C>T	ENST00000298532.2	-	15	1891	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	508					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCCGCCGCCGCCTCCGGAG	0.657000													15	14					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70796894	70796894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70796894C>T	ENST00000261776.5	-	11	1455	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	399					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.G399W(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCACGATCCCGTCGAGGTGA	0.557000													5	43					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197762722	197762722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197762722G>T	ENST00000330198.4	+	15	1697	c.1675G>T	c.(1675-1677)Ggt>Tgt	p.G559C	LMLN_ENST00000482695.1_Missense_Mutation_p.G544C|LMLN_ENST00000420910.2_Missense_Mutation_p.G596C|LMLN_ENST00000332636.5_Missense_Mutation_p.G507C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	559					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCCTCAAGGTCTGAAAGT	0.383000													7	86					1	1	1	1	0
BUB3	9184	broad.mit.edu	37	10	124921758	124921758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124921758G>A	ENST00000368865.4	+	6	792	c.583G>A	c.(583-585)Gta>Ata	p.V195I	BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.V195I|BUB3_ENST00000538238.1_Missense_Mutation_p.V115I	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCAGGGTTATGTATTAAGCTC	0.413000													8	310					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073845	135073845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135073845C>T	ENST00000393229.3	+	3	1482	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	NTNG2_ENST00000360670.3_Missense_Mutation_p.R236W|NTNG2_ENST00000393228.4_Missense_Mutation_p.R236W|NTNG2_ENST00000372179.3_Missense_Mutation_p.R236W	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCTACACGCGGCTGGAGAG	0.672000													23	51					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319206	48319206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48319206G>T	ENST00000435803.1	+	18	8439	c.8415G>T	c.(8413-8415)caG>caT	p.Q2805H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2805					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGAGTCAGAATATAACTC	0.328000													5	104					0.217242	0.218821	1	1	0
SCO1	6341	broad.mit.edu	37	17	10590075	10590075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10590075G>T	ENST00000255390.5	-	5	800	c.740C>A	c.(739-741)cCt>cAt	p.P247H	SCO1_ENST00000577427.1_Missense_Mutation_p.P216H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	247					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTTGGGGCCAGGGCTGTAATA	0.443000													11	108					5.50884e-06	6.28354e-06	1	1	0
ADSL	158	broad.mit.edu	37	22	40745930	40745930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745930G>A	ENST00000216194.7	+	2	304	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ADSL_ENST00000342312.6_Missense_Mutation_p.R83H|ADSL_ENST00000454266.2_Missense_Mutation_p.R83H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	83					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGAGAAACGTTTACGACAT	0.463000													23	32					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627716	37627716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37627716C>A	ENST00000447079.4	+	2	1664	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDK12_ENST00000430627.2_Missense_Mutation_p.P544H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	544					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTACTACCCCTCCACCTCAG	0.532000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			17	154					1.15919e-05	1.31461e-05	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350360	76350360	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350360A>C	ENST00000307431.8	+	3	518	c.133A>C	c.(133-135)Agt>Cgt	p.S45R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S45R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S49R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S21R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	46	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCCTTCAGCAGTTCTTCCGA	0.498000													9	28					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71381994	71381994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71381994G>A	ENST00000392650.3	-	32	4561	c.4561C>T	c.(4561-4563)Cga>Tga	p.R1521*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R1521*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1521	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTGCCATCGGATTAGCACG	0.652000													6	9					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117261583	117261583	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117261583T>G	ENST00000278935.3	+	16	2172	c.2025T>G	c.(2023-2025)gcT>gcG	p.A675A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	675	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGCTCCGAGCTCAGGTCCAGT	0.597000													19	42					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110224598	110224598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110224598G>A	ENST00000418703.2	-	13	2347	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPV4_ENST00000541794.1_Silent_p.F704F|TRPV4_ENST00000537083.1_Silent_p.F691F|TRPV4_ENST00000536838.1_Silent_p.F717F|TRPV4_ENST00000392719.2_Silent_p.F704F|TRPV4_ENST00000346520.2_Silent_p.F691F|TRPV4_ENST00000261740.2_Silent_p.F751F|TRPV4_ENST00000544971.1_Silent_p.F644F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	751					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTTCCTCAGGAATACGGGGA	0.662000													3	29					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494386	134494386	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134494386G>T	ENST00000339249.4	+	5	1082	c.942G>T	c.(940-942)aaG>aaT	p.K314N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCACAAGAAAAAGAGTC	0.468000													30	34					7.01153e-11	8.6781e-11	1	1	0
CALD1	800	broad.mit.edu	37	7	134635185	134635185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134635185C>T	ENST00000361388.2	+	9	1634	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	CALD1_ENST00000361675.2_Missense_Mutation_p.R619C|CALD1_ENST00000393118.2_Missense_Mutation_p.R384C|CALD1_ENST00000422748.1_Missense_Mutation_p.R390C|CALD1_ENST00000543443.1_Missense_Mutation_p.R369C|CALD1_ENST00000495522.1_Missense_Mutation_p.R384C|CALD1_ENST00000417172.1_Missense_Mutation_p.R364C|CALD1_ENST00000361901.2_Missense_Mutation_p.R364C|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.R358C	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	619					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAGAAACGCCAGAAGAT	0.433000													39	39					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84417649	84417649	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84417649T>C	ENST00000260505.8	-	3	413	c.36A>G	c.(34-36)ggA>ggG	p.G12G	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	12					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGGAGAGGGTCCCTGAATAA	0.363000													5	70					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783660	41783660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41783660G>A	ENST00000266304.4	+	2	579	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	TEF_ENST00000406644.3_Missense_Mutation_p.V125M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	155					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTGAAACCGTGTCCAGCAC	0.582000													13	8					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218604	115218604	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115218604T>G	ENST00000369538.3	-	10	1543	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	AMPD1_ENST00000520113.2_Missense_Mutation_p.N503T|AMPD1_ENST00000353928.6_Missense_Mutation_p.N470T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	470					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAAGGAAATTCTTGGAACG	0.433000													7	117					0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186276249	186276249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186276249G>T	ENST00000424280.1	-	3	928	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S54Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S150Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	150					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGGAGACTGAGATTTGTTTCT	0.408000													8	151					0.00621372	0.00652201	1	1	0
WDR19	57728	broad.mit.edu	37	4	39245970	39245970	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39245970C>A	ENST00000399820.3	+	22	2678	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR19_ENST00000288634.7_Missense_Mutation_p.L682I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	842					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CAGCAGGGTCCTTAAAAGAGA	0.428000													4	64					0.000602214	0.000649039	1	1	0
FRMD3	257019	broad.mit.edu	37	9	85905597	85905597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85905597C>A	ENST00000304195.3	-	13	1322	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	FRMD3_ENST00000376438.1_Missense_Mutation_p.Q372H|FRMD3_ENST00000376434.1_Missense_Mutation_p.Q178H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	372						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TAATGATGAGCTGTTTGTTCA	0.517000													4	99					0.217242	0.218821	1	1	0
C14orf166B	145497	broad.mit.edu	37	14	77318754	77318754	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77318754C>T	ENST00000393774.3	+	8	898	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	258										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATAACTTCCACACAAGGG	0.572000													9	11					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40309783	40309783	+	Silent	SNP	G	G	A	rs142932194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40309783G>A	ENST00000316891.5	-	10	1238	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	TRIT1_ENST00000441669.2_Silent_p.R326R|TRIT1_ENST00000537223.1_Silent_p.R104R|TRIT1_ENST00000537440.1_Silent_p.R104R|TRIT1_ENST00000545233.1_Silent_p.R162R|TRIT1_ENST00000372818.1_Silent_p.R382R|TRIT1_ENST00000541099.1_Silent_p.R26R|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	408					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCATTCGCGATCCCCAA	0.453000													11	30					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468000													25	207					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65871831	65871831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871831G>A	ENST00000395644.4	-	12	1807	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I	VWA9_ENST00000420799.2_Missense_Mutation_p.T434I|VWA9_ENST00000431261.2_Missense_Mutation_p.T412I|VWA9_ENST00000313182.2_Missense_Mutation_p.T491I|VWA9_ENST00000567744.1_Missense_Mutation_p.T527I|VWA9_ENST00000442903.3_Missense_Mutation_p.T455I|VWA9_ENST00000569491.1_Missense_Mutation_p.T441I					von Willebrand factor A domain containing 9																		AGAGGTGCCGGTACTGGCCAG	0.542000													33	49					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691477	122691477	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122691477A>G	ENST00000535274.1	+	1	2331	c.604A>G	c.(604-606)Aac>Gac	p.N202D	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.N202D|B3GNT4_ENST00000324189.4_Missense_Mutation_p.N227D			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	227					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCACGTCCCCAACGTGTTAGA	0.592000													28	24					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679427	27679427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27679427G>A	ENST00000525528.1	-	1	1778	c.685C>T	c.(685-687)Cga>Tga	p.R229*	BDNF_ENST00000420794.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000314915.6_Nonsense_Mutation_p.R237*|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000525950.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395981.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000438929.1_Nonsense_Mutation_p.R311*|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000532997.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395986.2_Nonsense_Mutation_p.R244*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000439476.2_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000356660.4_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395978.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000530861.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000533246.1_Nonsense_Mutation_p.R229*	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	229						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTTATGAATCGCCAGCCAATT	0.423000													7	128					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22200957	22200957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22200957G>A	ENST00000374695.3	-	28	3677	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1200	Laminin EGF-like 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGTCCCCCGCTGGGCGTCC	0.667000													16	18					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599408	57599408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599408C>A	ENST00000243077.3	+	75	12004	c.11538C>A	c.(11536-11538)ctC>ctA	p.L3846L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3846	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627000													19	40					0.000175454	0.000192663	1	1	0
SYN3	8224	broad.mit.edu	37	22	33402448	33402448	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33402448A>G	ENST00000358763.2	-	2	442	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SYN3_ENST00000332840.5_Missense_Mutation_p.M67T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	67	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCTGCTTCATGGCACTGGA	0.617000													12	83					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911126	89911126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89911126G>A	ENST00000534061.1	+	16	1929	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	NAALAD2_ENST00000321955.4_Missense_Mutation_p.A534T|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	567	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTTCTGTGGCTCAATTACG	0.358000													11	102					0	0	1	0	0
POC1B	282809	broad.mit.edu	37	12	89818984	89818984	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89818984G>T	ENST00000393179.4	-	9	1509	c.896C>A	c.(895-897)aCt>aAt	p.T299N	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.T429N|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.T387N|POC1B_ENST00000541909.1_3'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAAAGCATCAGTCACAGCGAG	0.428000													39	60					3.21399e-22	4.24043e-22	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814133	123814133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123814133C>T	ENST00000321252.2	-	1	447	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACAGACATGGCCATTCATCAG	0.567000													16	27					0	0	1	0	0
PCDHGB6	0	broad.mit.edu	37	5	140787945	140787945	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140787945T>G	ENST00000520790.1	+	1	176	c.176T>G	c.(175-177)cTg>cGg	p.L59R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGTCCTGGATGTGTCG	0.607000													7	51					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45780832	45780832	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45780832T>G	ENST00000263736.4	-	11	1509	c.1447A>C	c.(1447-1449)Aag>Cag	p.K483Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.K2Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TATAAGATCTTCATTAACTCT	0.358000													4	54					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43655966	43655966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43655966G>A	ENST00000374466.3	+	4	1238	c.903G>A	c.(901-903)aaG>aaA	p.K301K	CSGALNACT2_ENST00000374464.1_Silent_p.K301K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	301					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAAGACAAGAAGATTCATC	0.373000													23	31					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11850928	11850928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11850928G>A	ENST00000376592.1	-	11	1908	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	MTHFR_ENST00000376583.3_Missense_Mutation_p.R635W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R635W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R594W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTTCCCCACCGCTCAATCCAC	0.557000													22	30					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322137	67322137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67322137G>A	ENST00000360461.5	+	19	5823	c.3288G>A	c.(3286-3288)tcG>tcA	p.S1096S	PLEKHG4_ENST00000427155.2_Silent_p.S1096S|PLEKHG4_ENST00000379344.3_Silent_p.S1096S|PLEKHG4_ENST00000450733.1_Silent_p.S1015S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1096					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGGGCCTCGAACTCCCTTC	0.607000													15	112					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122950078	122950078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122950078G>A	ENST00000395412.1	+	14	2075	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CSNK1G3_ENST00000510842.2_Silent_p.Q421Q|CSNK1G3_ENST00000521364.1_Silent_p.Q420Q|CSNK1G3_ENST00000360683.2_Silent_p.Q452Q|CSNK1G3_ENST00000395411.1_Silent_p.Q444Q|CSNK1G3_ENST00000361991.2_Silent_p.Q444Q|CSNK1G3_ENST00000512718.3_Silent_p.Q345Q|CSNK1G3_ENST00000345990.4_Silent_p.Q420Q|CSNK1G3_ENST00000511130.2_Silent_p.Q308Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	444					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAACCATACAGCGCCACAAAT	0.388000													9	47					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476283	87476283	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476283A>G	ENST00000341119.5	-	8	958	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GTACATCTCTAAGAACAGTAG	0.378000													7	154					0	0	1	0	0
MSI2	0	broad.mit.edu	37	17	55752348	55752348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55752348G>A	ENST00000284073.2	+	12	1015	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.R265Q|MSI2_ENST00000442934.2_Missense_Mutation_p.R208Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	269						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AACCCGGCGCGGCCCGGAGGC	0.642000			T	HOXA9	CML								53	76					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107023071	107023071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107023071G>A	ENST00000369701.3	+	27	3835	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1203						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCAGGAGGCATTGCCACT	0.468000													9	14					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897184	100897184	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100897184G>A	ENST00000343933.5	-	4	629	c.372C>T	c.(370-372)taC>taT	p.Y124Y	CORO2A_ENST00000375077.4_Silent_p.Y124Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	124					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTCCTTCCTGTAGGCCGTGA	0.612000													5	48					0	0	1	0	0
GCOM1	0	broad.mit.edu	37	15	57925929	57925929	+	Missense_Mutation	SNP	G	G	A	rs144667495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57925929G>A	ENST00000574161.1	+	8	1042	c.923G>A	c.(922-924)cGc>cAc	p.R308H	GCOM1_ENST00000380568.3_Missense_Mutation_p.R308H|MYZAP_ENST00000380565.4_Missense_Mutation_p.R308H|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239H|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308H|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277H|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308H|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308H|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277H	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		308					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CTGATTGAGCGCATGGAAAAG	0.512000													17	50					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002546	98002546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98002546C>T	ENST00000355273.2	+	1	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378000													5	43					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227281	158227281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458000													96	169					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559225	80559225	+	Silent	SNP	G	G	A	rs151062508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80559225G>A	ENST00000335255.5	+	9	2007	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	611					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATCCGCATCGGCCTCCCTGC	0.622000													12	29					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31324094	31324094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31324094C>T	ENST00000215862.4	-	26	4119	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000397641.2_Missense_Mutation_p.R981H	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	981							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCGGAGGTGCGCAGGCTTTC	0.587000													15	20					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967778	57967778	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57967778G>T	ENST00000321039.3	-	1	76	c.77C>A	c.(76-78)tCt>tAt	p.S26Y	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	26					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAGGTCTGAAGAATCAGTAGA	0.353000													4	66					2.56e-06	2.9446e-06	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140373929	140373929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140373929C>A	ENST00000072869.4	+	1	977	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCK2_ENST00000476491.1_Missense_Mutation_p.L267I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCCAGAAAATCTCGCAGACCA	0.577000													5	72					1	1	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811295	140811295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811295G>T	ENST00000509479.2	-	2	2151	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	MAML3_ENST00000327122.5_Missense_Mutation_p.P276H	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGGCCGAGGTGGAGCTTG	0.597000													5	54					0.184627	0.186383	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228491436	228491436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228491436C>T	ENST00000570156.2	+	52	13873	c.13799C>T	c.(13798-13800)gCt>gTt	p.A4600V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A1290V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3643	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCACAGCTGTGCTGCAG	0.587000													22	62					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73071440	73071440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73071440G>A	ENST00000263674.3	+	11	4632	c.4282G>A	c.(4282-4284)Gcg>Acg	p.A1428T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1428					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGTGCTACGCGCTTTCCTT	0.657000													51	94					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72173218	72173218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72173218C>T	ENST00000324262.4	+	4	655	c.339C>T	c.(337-339)agC>agT	p.S113S	CNDP2_ENST00000579847.1_Silent_p.S113S|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGGGACAGCGAGCCCTTCA	0.617000													15	35					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673430	72673430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72673430T>C	ENST00000373514.2	+	2	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGAATTCCATTGCAATAGATA	0.423000													3	37					0	0	1	0	0
MEF2A	0	broad.mit.edu	37	15	100173378	100173378	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100173378G>T	ENST00000354410.5	+	3	683	c.54_splice	c.e3+1	p.Q18_splice	MEF2A_ENST00000557785.1_Splice_Site_p.Q18_splice|MEF2A_ENST00000557942.1_Splice_Site_p.Q18_splice|MEF2A_ENST00000449277.2_Splice_Site_p.Q18_splice|MEF2A_ENST00000338042.6_Splice_Site_p.Q18_splice|MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000453228.2_Splice_Site_p.Q18_splice|MEF2A_ENST00000558812.1_Splice_Site_p.Q18_splice	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	18	Lys-rich (basic).|MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAACCGACAGGTAAATGaaa	0.274000													7	5					8.12818e-05	8.99451e-05	1	1	0
TSGA13	114960	broad.mit.edu	37	7	130364093	130364093	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130364093A>G	ENST00000456951.1	-	6	1138	c.287T>C	c.(286-288)tTa>tCa	p.L96S	TSGA13_ENST00000356588.3_Missense_Mutation_p.L96S			Q96PP4	TSG13_HUMAN	testis specific, 13	96										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATAATCAGTAACGTCTTATC	0.443000													23	84					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47290733	47290733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290733G>T	ENST00000337137.4	+	7	1057	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K238N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K219N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K250N	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	297	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGCAGCCCAAGGTGACGGAGG	0.557000													21	40					7.87624e-14	1.00187e-13	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38705719	38705719	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38705719C>T	ENST00000359357.3	+	5	690	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	DNAH8_ENST00000441566.1_Silent_p.L146L|DNAH8_ENST00000449981.2_Silent_p.L363L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGAAGTGCTGATGGTATG	0.403000													7	116					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66831427	66831427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66831427C>T	ENST00000423207.2	+	11	1802	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	PDE4B_ENST00000371049.3_Silent_p.S454S|PDE4B_ENST00000480109.2_Silent_p.S221S|PDE4B_ENST00000371045.5_Silent_p.S282S|PDE4B_ENST00000329654.4_Silent_p.S454S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	454					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGGAGTCTCCAATCAGTTTC	0.413000													5	33					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12976874	12976874	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12976874A>C	ENST00000358007.3	+	8	843	c.821A>C	c.(820-822)aAt>aCt	p.N274T	DDX47_ENST00000352940.4_Intron|RP11-59H1.3_ENST00000534843.1_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	274	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCACCTGTAATAATACCCAG	0.403000													49	68					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74787407	74787407	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74787407G>A	ENST00000290536.5	-	9	1409	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.D80D|M1AP_ENST00000409585.1_Silent_p.D431D|M1AP_ENST00000536235.1_Silent_p.D431D	NM_138804.3	NP_620159.2			meiosis 1 associated protein									p.D431E(1)									GCTCCAGGCTGTCCAGCATGC	0.567000													19	34					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27043037	27043037	+	Silent	SNP	C	C	T	rs142412914	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27043037C>T	ENST00000395245.3	-	3	812	c.186G>A	c.(184-186)tcG>tcA	p.S62S	RAB34_ENST00000395242.2_Silent_p.S63S|RAB34_ENST00000453384.3_Silent_p.S120S|RAB34_ENST00000447716.1_Silent_p.S119S|RAB34_ENST00000436730.3_Silent_p.S62S|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000395243.3_Silent_p.S62S|RAB34_ENST00000450529.1_Silent_p.S62S|RAB34_ENST00000301043.6_Silent_p.S62S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCTTCCCCACCGACAGGTCCC	0.592000													10	32					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	465045	465045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:465045C>T	ENST00000280886.6	-	6	786	c.699G>A	c.(697-699)gcG>gcA	p.A233A	DIP2C_ENST00000381496.3_Silent_p.A126A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	233						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTACTTGGGCGCTGTCCGGG	0.557000													15	40					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149922851	149922851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149922851G>A	ENST00000367411.2	-	7	1025	c.767C>T	c.(766-768)aCg>aTg	p.T256M	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335647.5_Missense_Mutation_p.T256M|KATNA1_ENST00000335643.8_Missense_Mutation_p.T180M	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	256					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAAGGAGCGTCTTCCCCGT	0.438000													18	34					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85121920	85121920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85121920G>A	ENST00000566428.1	+	13	1856	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A409T|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A399T			O60268	K0513_HUMAN	KIAA0513	409						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAGCAAATGGCCACTGAGTA	0.562000													26	42					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376492	18376492	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376492A>C	ENST00000392413.3	-	3	2073	c.1858T>G	c.(1858-1860)Ttt>Gtt	p.F620V	KIAA1683_ENST00000600359.2_Missense_Mutation_p.F574V|KIAA1683_ENST00000600328.2_Missense_Mutation_p.F620V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	620						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGTCTTAAATGCCATGTCT	0.542000													4	64					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745976	57745976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57745976C>T	ENST00000281282.5	+	7	2228	c.2150C>T	c.(2149-2151)gCa>gTa	p.A717V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	717						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGGACAGTGCAAAGCGATCG	0.557000													13	14					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015155	135015155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135015155A>G	ENST00000304613.3	+	17	3161	c.3140A>G	c.(3139-3141)cAg>cGg	p.Q1047R	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1049R|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q982R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1047					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGCGCAGCAGCCTGAGGCT	0.667000													13	24					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345153	103345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103345153C>T	ENST00000370162.3	-	4	987	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.A165T|POLL_ENST00000370172.1_Missense_Mutation_p.A77T|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.A165T|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	165					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGAAAGGGCTGTCTGAAGC	0.597000								DNA polymerases (catalytic subunits)					24	42					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918740	52918740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52918740C>A	ENST00000360465.3	+	7	1061	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAGATAATCCTTACAAATGC	0.398000													6	76					0.217242	0.218821	1	1	0
RARRES1	0	broad.mit.edu	37	3	158415601	158415601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158415601G>A	ENST00000237696.5	-	6	1031	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGTGAATGCGACAGGGAATT	0.378000													28	54					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480455	59480455	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59480455G>T	ENST00000307552.2	-	1	882	c.864C>A	c.(862-864)ccC>ccA	p.P288P		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TATAGATCAAGGGGTTTAAAA	0.433000													53	83					4.25531e-23	5.6291e-23	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95753150	95753150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95753150C>A	ENST00000272418.2	-	12	1453	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	415					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCATTCCCTGTGCAGTCT	0.567000													7	48					0.00198382	0.00210581	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102894699	102894699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102894699C>A	ENST00000359520.7	+	7	1290	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	TECPR2_ENST00000558678.1_Missense_Mutation_p.P355H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	355							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCAAGCAGGCCTGAAGGATTA	0.328000													7	66					2.0095e-06	2.31757e-06	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9068913	9068913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9068913T>C	ENST00000457346.2	-	16	2066	c.1992A>G	c.(1990-1992)gaA>gaG	p.E664E	SCUBE2_ENST00000520467.1_Silent_p.E664E|SCUBE2_ENST00000450649.2_Silent_p.E509E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.E635E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	635						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTGGTTTTCTGCATGAC	0.557000													4	44					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64465654	64465654	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64465654C>A	ENST00000357395.3	+	0	3606				SYNE2_ENST00000344113.4_Missense_Mutation_p.L1126I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1126I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1126I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATATTCTTGAACACCA	0.393000													40	62					5.75399e-11	7.13211e-11	1	1	0
STARD13	90627	broad.mit.edu	37	13	33684069	33684069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33684069G>T	ENST00000336934.5	-	12	3104	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	STARD13_ENST00000399365.3_Silent_p.I878I|STARD13_ENST00000255486.4_Silent_p.I988I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	996	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATACTGGTAGATCTCTGTTT	0.527000											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	70					3.59834e-05	4.01776e-05	1	1	0
CA9	768	broad.mit.edu	37	9	35675906	35675906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35675906C>T	ENST00000378357.4	+	3	686	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	194	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAACTGCGCCTGCGCAACA	0.726000													7	10					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111434572	111434572	+	Splice_Site	SNP	G	G	A	rs34949711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111434572G>A	ENST00000265162.5	+	7	1652	c.1308_splice	c.e7-1	p.R437_splice	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	437			R -> H (in dbSNP:rs34949711).		cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCATTTCAGCGTGACCAAATG	0.308000													8	68					0	0	1	0	0
RPL17-C18orf32	0	broad.mit.edu	37	18	47010026	47010026	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47010026G>A	ENST00000584895.1	-	6	637	c.623C>T	c.(622-624)tCg>tTg	p.S208L	C18orf32_ENST00000582392.1_Silent_p.F31F|C18orf32_ENST00000579820.1_Silent_p.F31F|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.S170L|C18orf32_ENST00000318240.3_Silent_p.F31F	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					TACGACTAACGAAGGGGGAAA	0.388000													54	91					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163009	91163009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91163009T>C	ENST00000546318.1	+	2	2171	c.884T>C	c.(883-885)aTa>aCa	p.I295T	IFIT1_ENST00000371804.3_Missense_Mutation_p.I326T|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	326					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGATCAGCCATATTTCATTTT	0.418000													8	39					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109775385	109775385	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109775385G>T	ENST00000368952.4	-	2	362	c.72C>A	c.(70-72)acC>acA	p.T24T	MICAL1_ENST00000358807.3_Silent_p.T5T|MICAL1_ENST00000358577.3_Silent_p.T5T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	5					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTTGGTGGAGGTAGGTGAAG	0.627000													4	6					2.56e-06	2.9446e-06	1	1	0
CLDN4	1364	broad.mit.edu	37	7	73245993	73245993	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73245993C>T	ENST00000435050.1	+	2	3142	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CLDN4_ENST00000431918.1_Silent_p.S154S|CLDN4_ENST00000340958.2_Silent_p.S154S			O14493	CLD4_HUMAN	claudin 4	154					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGTGGCCTCCGGGCAGAAGC	0.657000													32	21					0	0	1	0	0
CST7	8530	broad.mit.edu	37	20	24939633	24939633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24939633C>A	ENST00000480798.1	+	3	589	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	CST7_ENST00000376835.2_Missense_Mutation_p.L127M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	105					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AAACCAGCACCTGCGTCTGGA	0.527000													28	44					7.26314e-15	9.28782e-15	1	1	0
PLRG1	5356	broad.mit.edu	37	4	155468979	155468979	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155468979A>C	ENST00000499023.2	-	3	269	c.143T>G	c.(142-144)cTt>cGt	p.L48R	PLRG1_ENST00000393905.2_Missense_Mutation_p.L48R|PLRG1_ENST00000302078.5_Missense_Mutation_p.L48R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	48						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTCATTACGAAGCTTGATTGC	0.333000													7	53					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403055	1403055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1403055C>T	ENST00000270349.9	-	13	1876	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	SLC6A3_ENST00000453492.2_Silent_p.L583L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	583	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGACCCAGGCAGGCTGCAGA	0.632000													7	20					0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31588194	31588194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31588194C>T	ENST00000399899.1	-	1	197	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CLDN8_ENST00000286809.1_Missense_Mutation_p.G17E	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	17					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCCACCATTCCAACACCACC	0.502000													13	42					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42393508	42393508	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42393508A>T	ENST00000379310.3	-	15	1783	c.1715T>A	c.(1714-1716)aTc>aAc	p.I572N	VWA8_ENST00000281496.6_Missense_Mutation_p.I572N	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGAGGGATGGATAGGAAAAAT	0.378000													6	39					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112506731	112506731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112506731C>A	ENST00000261745.4	-	11	1350	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	368						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCTTAAGGTCTGTAAAACAA	0.373000													6	66					0.00198382	0.00210581	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75498424	75498424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498424C>A	ENST00000360639.2	+	2	355	c.35C>A	c.(34-36)cCt>cAt	p.P12H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P12H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P12H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	12										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTGGGGCCTGTGATGTAT	0.602000													3	11					0.115264	0.117355	1	1	0
NUPL2	11097	broad.mit.edu	37	7	23240207	23240207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23240207C>A	ENST00000258742.5	+	7	1374	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	372	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCCACTTCTCTGTCAGCC	0.428000													12	242					9.31168e-06	1.06029e-05	1	1	0
ZNF275	10838	broad.mit.edu	37	X	152610162	152610162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152610162C>A	ENST00000440091.1	+	2	43	c.43C>A	c.(43-45)Ctc>Atc	p.L15I	ZNF275_ENST00000421401.3_Intron|ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_5'UTR			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	0						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGTACCTCACCACAAG	0.502000													7	137					0.0381472	0.0390147	1	1	0
UGT2A1	10941	broad.mit.edu	37	4	70512749	70512749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512749G>T	ENST00000503640.1	-	1	669	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S205Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S205Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S205Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	205					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTCAGTGAAAGACATTTGGTC	0.408000													7	64					5.18039e-06	5.91835e-06	1	1	0
NACA	4666	broad.mit.edu	37	12	57112225	57112225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57112225T>C	ENST00000454682.1	-	3	3370	c.3089A>G	c.(3088-3090)aAa>aGa	p.K1030R	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGATGCCCCTTTGGGGAATGG	0.637000			T	BCL6	NHL								4	45					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574836	41574836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574836C>A	ENST00000263253.7	+	31	8340	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2374					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.S2374Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	17					2.35188e-11	2.93101e-11	1	1	0
PDZD7	79955	broad.mit.edu	37	10	102783729	102783729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102783729C>A	ENST00000370215.3	-	3	548	c.323G>T	c.(322-324)gGc>gTc	p.G108V	PDZD7_ENST00000470414.1_Missense_Mutation_p.G108V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	108	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GATGCCCAGGCCATGCTCTGA	0.577000													30	36					1.21669e-08	1.46242e-08	1	1	0
CTGF	1490	broad.mit.edu	37	6	132270531	132270531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132270531G>T	ENST00000367976.3	-	5	1123	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	308	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCGCCGTCAGGGCACTTGAA	0.522000													14	117					4.36969e-10	5.35656e-10	1	1	0
IFT74	80173	broad.mit.edu	37	9	26984505	26984505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26984505C>T	ENST00000443698.1	+	6	584	c.413C>T	c.(412-414)aCt>aTt	p.T138I	IFT74_ENST00000429045.2_Missense_Mutation_p.T138I|IFT74_ENST00000380062.5_Missense_Mutation_p.T138I|IFT74_ENST00000433700.1_Missense_Mutation_p.T138I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	138						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGGCTGAGACTTTAGCTGTT	0.274000													9	104					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89354940	89354940	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89354940T>C	ENST00000301030.4	-	7	1200	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y247C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	247						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAACCTTGTAGTGCCCGTT	0.592000													17	26					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661037	40661037	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40661037T>C	ENST00000454349.2	+	5	1014	c.803T>C	c.(802-804)gTt>gCt	p.V268A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.V268A	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	268					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTAAATCTGTTCAATCTTCC	0.458000													9	55					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292718	62292718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292718C>A	ENST00000378024.4	-	5	9445	c.9171G>T	c.(9169-9171)aaG>aaT	p.K3057N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3057					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.488000													14	197					6.72482e-11	8.32712e-11	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102478325	102478325	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102478325C>T	ENST00000360184.4	+	33	6896	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2244	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGAGACTCGAGGGTGTGG	0.577000													13	19					0	0	1	0	0
MCHR1	0	broad.mit.edu	37	22	41077581	41077581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077581C>A	ENST00000249016.4	+	2	1614	c.918C>A	c.(916-918)tcC>tcA	p.S306S	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.S180S	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATGACGTCCTCAGTGGCCC	0.602000													20	33					5.26018e-13	6.65277e-13	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21599273	21599273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21599273G>A	ENST00000328843.6	+	4	776	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E249K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	249	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGGTTATTGAATGGTCACA	0.338000									Kartagener syndrome				3	24					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28117818	28117818	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28117818T>A	ENST00000304658.5	-	19	2998	c.2497_splice	c.e19-1	p.D833_splice	XPO6_ENST00000565698.1_Splice_Site_p.D819_splice	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	833					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCAGTCACATCTGAGGAAAG	0.483000													8	61					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27903334	27903334	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27903334C>A	ENST00000225394.3	-	14	1763	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	GIT1_ENST00000579937.1_Missense_Mutation_p.Q505H|GIT1_ENST00000394869.3_Missense_Mutation_p.Q514H|GIT1_ENST00000581348.1_Missense_Mutation_p.Q514H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	505					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAAAAGGCCTGGCGATCCC	0.667000													8	118					0.0381472	0.0390147	1	1	0
OR10A6	390093	broad.mit.edu	37	11	7949989	7949989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7949989C>A	ENST00000309838.2	-	1	220	c.221G>T	c.(220-222)aGt>aTt	p.S74I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAACTGCACTGAAACTCAG	0.428000													63	69					5.82218e-30	7.79564e-30	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74806697	74806697	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74806697G>T	ENST00000412021.2	-	9	1396	c.1063C>A	c.(1063-1065)Cta>Ata	p.L355I	P4HA1_ENST00000263556.3_Missense_Mutation_p.L355I|P4HA1_ENST00000440381.1_Missense_Mutation_p.L355I|P4HA1_ENST00000394890.2_Missense_Mutation_p.L355I|P4HA1_ENST00000373008.2_Missense_Mutation_p.L355I|P4HA1_ENST00000307116.2_Missense_Mutation_p.L355I	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	355						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTTTGCTAGGTCTTTGACG	0.333000													22	63					1.55795e-14	1.98882e-14	1	1	0
SSPO	23145	broad.mit.edu	37	7	149500075	149500075	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149500075C>T	ENST00000378016.2	+	0	7701							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGACCCTGCAGCGTCTCCT	0.672000													3	7					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160162604	160162604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160162604G>A	ENST00000368079.3	+	2	549	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	CASQ1_ENST00000368078.3_Missense_Mutation_p.V98I	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	98						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGCCCAAGTCCTAGAAGA	0.498000											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	151					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193974	28193974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193974G>A	ENST00000302326.4	-	1	3512	c.2558C>T	c.(2557-2559)cCg>cTg	p.P853L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCTCTGGCGGGTTCTTCTT	0.647000			T	ETV6	"""AML, meningioma"""								46	75					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56646333	56646333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56646333C>T	ENST00000336078.4	+	9	3973	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	ZNF532_ENST00000591230.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCTTTCAGCTCGTCCCACAGC	0.507000													37	83					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9455173	9455173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9455173G>A	ENST00000379719.3	+	17	2080	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	646					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTACAACAGCATGTCTTAG	0.343000													3	54					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133358902	133358902	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133358902G>T	ENST00000204726.3	-	17	4003	c.3445C>A	c.(3445-3447)Cta>Ata	p.L1149I	GOLGA3_ENST00000450791.2_Missense_Mutation_p.L1149I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L1149I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1149					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AACTGGACTAGGTCTGCCTCC	0.552000													5	131					0.0293803	0.0301098	1	1	0
SLC35F4	341880	broad.mit.edu	37	14	58056155	58056155	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056155C>T	ENST00000556826.1	-	3	602	c.366G>A	c.(364-366)acG>acA	p.T122T	SLC35F4_ENST00000339762.6_Silent_p.T158T|SLC35F4_ENST00000554729.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCATGGACGTGCAGGACA	0.443000													4	23					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94229023	94229023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94229023G>A	ENST00000415788.2	-	9	1245	c.1158C>T	c.(1156-1158)aaC>aaT	p.N386N	SGCE_ENST00000445866.2_Silent_p.N350N|SGCE_ENST00000428696.2_Intron|SGCE_ENST00000265735.7_Silent_p.N350N|SGCE_ENST00000447873.1_Intron|SGCE_ENST00000437425.2_Silent_p.N309N			O43556	SGCE_HUMAN	sarcoglycan, epsilon	350					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTTTGCATGTTTCTCTTTT	0.348000													4	76					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153940894	153940894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940894G>T	ENST00000369575.3	-	4	707	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.L227M	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	226										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGCTGCAGGCAGTCAACA	0.547000													6	52					8.12818e-05	8.99451e-05	1	1	0
GDF5	8200	broad.mit.edu	37	20	34021926	34021926	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34021926G>A	ENST00000374372.1	-	4	1790	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	GDF5_ENST00000374369.3_Silent_p.C429C|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	429					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACAGCCCCTCGCAGTGGAAAG	0.587000													22	38					0	0	1	0	0
C20orf166-AS1	0	broad.mit.edu	37	20	61143823	61143823	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61143823G>T	ENST00000475015.1	-	0	515				C20orf166-AS1_ENST00000412495.1_RNA																							TCGTGCGCGAGGTGCCCTGTG	0.672000													9	96					1.36491e-13	1.73287e-13	1	1	0
SRSF7	6432	broad.mit.edu	37	2	38972324	38972324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38972324G>A	ENST00000313117.6	-	8	905	c.668C>T	c.(667-669)tCc>tTc	p.S223F	SRSF7_ENST00000409276.1_Missense_Mutation_p.S220F|SRSF7_ENST00000446327.2_Missense_Mutation_p.S211F	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	223	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTGATGGGGAACGACTAAA	0.368000													37	58					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111109744	111109744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111109744C>T	ENST00000360467.5	+	21	1700	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCTTCCCGGCTCCCCT	0.602000													7	16					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970862	110970862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110970862G>A	ENST00000394780.3	+	18	2123	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.R600H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	704					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CGTAGTCACCGCCAGATGAGT	0.348000													13	17					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109359770	109359770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109359770C>A	ENST00000370001.3	-	15	2547	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	760										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGGGTCTGAGCTGTAGGTCAT	0.453000													5	52					0.217242	0.218821	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18023071	18023071	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023071G>A	ENST00000205890.5	+	2	1295	c.957G>A	c.(955-957)ccG>ccA	p.P319P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	319	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCCCCGTCGGGGTACT	0.607000													5	61					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57504908	57504908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57504908C>A	ENST00000219252.5	+	9	1043	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	235					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGTGGAGTCCTGTGGCTCTC	0.527000													24	51					7.4402e-23	9.83099e-23	1	1	0
CDK13	8621	broad.mit.edu	37	7	40027399	40027399	+	Silent	SNP	G	G	A	rs144712960		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40027399G>A	ENST00000181839.4	+	2	2018	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_ENST00000340829.5_Silent_p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502000													23	12					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931553	70931553	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70931553C>A	ENST00000264436.3	-	4	666	c.222G>T	c.(220-222)caG>caT	p.Q74H	ADD2_ENST00000355733.3_Missense_Mutation_p.Q74H|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74H|ADD2_ENST00000430656.1_Missense_Mutation_p.Q90H|ADD2_ENST00000413157.2_Missense_Mutation_p.Q74H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	74					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTCTTCATCTGCTCCTGGA	0.592000													19	38					4.35082e-09	5.25983e-09	1	1	0
APOBEC3D	140564	broad.mit.edu	37	22	39421198	39421198	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421198T>C	ENST00000216099.7	+	3	741	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C112R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	112					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGCCTGCCCTGTGTGGTGAA	0.552000													14	96					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370399	86370399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86370399T>C	ENST00000400286.2	-	2	843	c.245A>G	c.(244-246)aAt>aGt	p.N82S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	82						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAAAAGTCATTTGTGTGAAG	0.388000													12	129					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407352	2407352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2407352T>C	ENST00000381223.4	-	2	1612	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	ZBED1_ENST00000381222.2_Missense_Mutation_p.N470S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.N470S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	470						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGCCACGTTGAGAAACAT	0.612000													55	77					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653134	130653134	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130653134G>A	ENST00000373146.1	-	5	665	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ST6GALNAC6_ENST00000291839.5_Silent_p.F162F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.F128F|ST6GALNAC6_ENST00000373142.1_Silent_p.F162F|ST6GALNAC6_ENST00000373141.1_Silent_p.F128F			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	162					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCACGCGGAACACACTGG	0.602000													10	17					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115894781	115894781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115894781C>A	ENST00000369287.3	-	10	1812	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E114*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	516										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCATCTTCTGTTCTTAAT	0.308000													5	32					0.000602214	0.000649039	1	1	0
CABP2	51475	broad.mit.edu	37	11	67287408	67287408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67287408C>T	ENST00000294288.4	-	6	562	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CABP2_ENST00000353903.5_Missense_Mutation_p.D108N	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	165	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCATTGGTGTCGAACTGTGGC	0.692000													9	5					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014660	83014660	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83014660C>A	ENST00000307792.3	-	16	2292	c.1825G>T	c.(1825-1827)Gcg>Tcg	p.A609S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAACTTTCGCTTGTAAAGAT	0.398000													13	193					2.32078e-09	2.82054e-09	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152560749	152560749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152560749G>T	ENST00000367255.5	-	108	20587	c.19986C>A	c.(19984-19986)ttC>ttA	p.F6662L	SYNE1_ENST00000341594.5_Missense_Mutation_p.F6274L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F6662L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000356820.4_Missense_Mutation_p.F1186L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F6591L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6662					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGTATGGAACTGGGTTT	0.458000										HNSCC(10;0.0054)			28	35					4.22769e-11	5.25533e-11	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178969154	178969154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178969154C>T	ENST00000358450.4	-	2	135	c.37G>A	c.(37-39)Gtg>Atg	p.V13M		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGCACATTTCTGAAT	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	100					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40954849	40954849	+	Missense_Mutation	SNP	G	G	T	rs116054135	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40954849G>T	ENST00000372706.1	+	4	1315	c.309G>T	c.(307-309)gaG>gaT	p.E103D	ZFP69_ENST00000482712.1_3'UTR|ZFP69_ENST00000372705.3_Missense_Mutation_p.E103D					ZFP69 zinc finger protein																		TATACCGAGAGGTGATGCTGG	0.458000													8	53					5.4927e-09	6.6252e-09	1	1	0
LINGO1	84894	broad.mit.edu	37	15	77906437	77906437	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906437T>C	ENST00000355300.6	-	2	1986	c.1812A>G	c.(1810-1812)gcA>gcG	p.A604A	LINGO1_ENST00000561030.1_Silent_p.A598A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	604					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGCTGATGCCTGCGTCCGACT	0.652000													6	10					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427039	71427039	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71427039A>G	ENST00000373657.1	-	3	1811	c.1209T>C	c.(1207-1209)aaT>aaC	p.N403N	ERCC6L_ENST00000334463.3_Silent_p.N526N|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	526					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTAATCTTTATTTTGCTGGA	0.383000													39	70					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558601	118558601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118558601G>T	ENST00000336338.5	-	29	4339	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1425						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTGACAGGATCTGTGGC	0.393000													14	33					2.31682e-05	2.60394e-05	1	1	0
TPCN1	53373	broad.mit.edu	37	12	113726600	113726600	+	Missense_Mutation	SNP	G	G	A	rs147435178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113726600G>A	ENST00000550785.1	+	22	2129	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	TPCN1_ENST00000541517.1_Missense_Mutation_p.A654T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A514T|TPCN1_ENST00000335509.6_Missense_Mutation_p.A582T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	582						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACTCCTTCGCCATCGTGGG	0.657000													7	118					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14990358	14990358	+	Missense_Mutation	SNP	T	T	C	rs13306224	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14990358T>C	ENST00000331587.4	-	4	531	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	CALCA_ENST00000359642.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q138R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000486207.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GTTGGCATTCTGGGGCATGCT	0.493000													8	164					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005430	120005430	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120005430T>A	ENST00000354888.5	+	4	1172	c.668T>A	c.(667-669)tTc>tAc	p.F223Y	STEAP3_ENST00000393107.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393110.2_Missense_Mutation_p.F233Y|STEAP3_ENST00000425223.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393108.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000450943.2_Missense_Mutation_p.F223Y|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000409811.1_Missense_Mutation_p.F223Y	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	223					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGGGCTCTTCGTCTGCTTC	0.632000													25	22					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128183683	128183683	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128183683C>A	ENST00000453608.2	+	6	731	c.723C>A	c.(721-723)ccC>ccA	p.P241P	PROC_ENST00000409048.1_Silent_p.P220P|PROC_ENST00000422777.3_Silent_p.P186P|PROC_ENST00000234071.3_Silent_p.P186P			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	186	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGGGAGGCCCTGGAAGCGGA	0.592000													11	35					0.105934	0.108051	1	1	0
NOXRED1	122945	broad.mit.edu	37	14	77872299	77872299	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77872299C>A	ENST00000380835.2	-	5	1028	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	288					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGACAAAATCTGTTAATTGC	0.458000													15	33					0.000308642	0.000336111	1	1	0
CLMP	79827	broad.mit.edu	37	11	122955285	122955285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122955285C>T	ENST00000448775.2	-	3	663	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	108	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ACAGGTGTACCGGCCCTCATC	0.493000													26	29					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577645	92577645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92577645G>A	ENST00000298047.6	+	18	11129	c.11112G>A	c.(11110-11112)gcG>gcA	p.A3704A	FAT3_ENST00000525166.1_Silent_p.A3554A|FAT3_ENST00000409404.2_Silent_p.A3704A|FAT3_ENST00000533797.1_Silent_p.A39A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3704					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTGTTTGCGGTGGAGATGC	0.567000										TCGA Ovarian(4;0.039)			9	15					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653596	6653596	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6653596G>A	ENST00000377658.4	-	4	1674	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.S174S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	541					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612000													12	21					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734042	56734042	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56734042C>T	ENST00000587340.1	-	6	1352	c.657G>A	c.(655-657)caG>caA	p.Q219Q	ZSCAN5A_ENST00000254165.3_Silent_p.Q102Q|ZSCAN5A_ENST00000587492.1_Silent_p.Q73Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q219Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q219Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	219					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCAAGGTCTGCTTGGGTC	0.488000													42	50					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71838445	71838445	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71838445T>A	ENST00000258104.3	+	37	4251	c.3974T>A	c.(3973-3975)aTc>aAc	p.I1325N	DYSF_ENST00000413539.2_Missense_Mutation_p.I1356N|DYSF_ENST00000409744.1_Missense_Mutation_p.I1312N|DYSF_ENST00000410020.3_Missense_Mutation_p.I1343N|DYSF_ENST00000409582.3_Missense_Mutation_p.I1342N|DYSF_ENST00000410041.1_Missense_Mutation_p.I1343N|DYSF_ENST00000394120.2_Missense_Mutation_p.I1326N|DYSF_ENST00000409762.1_Missense_Mutation_p.I1342N|DYSF_ENST00000409651.1_Missense_Mutation_p.I1357N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.I1326N|DYSF_ENST00000429174.2_Missense_Mutation_p.I1325N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1325			I -> M (in a breast cancer sample; somatic mutation).|I -> V.			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCAGAACATCAAGCCAGCG	0.637000													4	16					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655810	79655810	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79655810A>G	ENST00000275034.4	-	38	4705	c.4538T>C	c.(4537-4539)gTa>gCa	p.V1513A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1513					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AACTGGATCTACAACCACTCG	0.423000													16	60					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12353762	12353762	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12353762G>A	ENST00000358136.3	+	24	6163		c.e24+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCAGACGGTAGGTAGCCT	0.512000													6	18					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90984986	90984986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984986C>A	ENST00000336233.5	-	6	861		c.e6-1		LIPA_ENST00000456827.1_Splice_Site|LIPA_ENST00000371837.1_Splice_Site			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase						lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GCTATAAAACCTGTGAGAACA	0.488000													11	194					3.86212e-05	4.30401e-05	1	1	0
PXDN	7837	broad.mit.edu	37	2	1677432	1677432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1677432C>A	ENST00000252804.4	-	9	1051	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	334					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGAAGTACCTGAGGGTCAC	0.552000													48	83					1.00953e-15	1.29747e-15	1	1	0
NRM	11270	broad.mit.edu	37	6	30656463	30656463	+	Missense_Mutation	SNP	C	C	T	rs139617550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30656463C>T	ENST00000259953.4	-	5	1115	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	NRM_ENST00000376420.5_Missense_Mutation_p.R196Q|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Missense_Mutation_p.R255Q	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	255						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCTGGGGCCGAGAGAGCAG	0.572000													18	31					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19441364	19441364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19441364G>T	ENST00000375267.2	-	75	11146	c.11143C>A	c.(11143-11145)Ctc>Atc	p.L3715I	UBR4_ENST00000375254.3_Missense_Mutation_p.L3715I|UBR4_ENST00000375217.2_Missense_Mutation_p.L3708I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3691I|UBR4_ENST00000375218.3_Missense_Mutation_p.L130I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3715					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGCATAGAGCATGAAGTCG	0.507000													6	142					3.59834e-05	4.01776e-05	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109405347	109405347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109405347C>T	ENST00000295124.4	+	3	251	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S64L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTGGTTCATCGTTAAAATAT	0.358000													40	68					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661550	4661550	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4661550A>G	ENST00000357605.2	+	1	606	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATCCTCAAGTGGTTGTCC	0.502000													6	144					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121189892	121189892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121189892C>T	ENST00000392870.2	+	7	868	c.539C>T	c.(538-540)cCg>cTg	p.P180L	GRK5_ENST00000369108.3_Missense_Mutation_p.P75L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	180	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCAGGCAACCGGTGACCAAA	0.483000													5	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419595	179419595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179419595G>T	ENST00000589042.1	-	331	88815	c.88591C>A	c.(88591-88593)Ctt>Att	p.L29531I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20466I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26963I|TTN_ENST00000359218.5_Missense_Mutation_p.L20591I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20658I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L27890I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27890	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTACCAAGGATCTGTACT	0.398000													13	33					2.27111e-07	2.66951e-07	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42744114	42744114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42744114G>T	ENST00000263805.4	-	2	613	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTGTCATCAGAGTTTATTTC	0.438000													18	210					1.64113e-05	1.85146e-05	1	1	0
TNS3	64759	broad.mit.edu	37	7	47384355	47384355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47384355C>T	ENST00000398879.1	-	20	3014	c.2648G>A	c.(2647-2649)cGt>cAt	p.R883H	TNS3_ENST00000355730.3_Missense_Mutation_p.R643H|TNS3_ENST00000311160.9_Missense_Mutation_p.R883H			Q68CZ2	TENS3_HUMAN	tensin 3	883						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTCTTACCACGTCCTCCTTT	0.582000													36	36					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47269912	47269912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47269912C>T	ENST00000396220.1	-	20	2355	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PREX1_ENST00000371941.3_Missense_Mutation_p.R778H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	778					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCTTCGCGCCGACTCCG	0.577000													52	80					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274782	51274782	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274782A>G	ENST00000270590.4	+	1	1062	c.925A>G	c.(925-927)Agc>Ggc	p.S309G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	309						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGTGTCAACAGCAGCCTCAA	0.547000													4	81					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263069	34263069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34263069C>A	ENST00000374092.4	-	8	916	c.846G>T	c.(844-846)caG>caT	p.Q282H	NFS1_ENST00000541387.1_Missense_Mutation_p.Q231H|NFS1_ENST00000374085.1_Missense_Mutation_p.Q222H|NFS1_ENST00000540053.1_Missense_Mutation_p.Q80H|NFS1_ENST00000397425.1_Missense_Mutation_p.Q222H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	282					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCCTCCACTCTGCAGGGCCT	0.592000													7	14					0.00198382	0.00210581	1	1	0
CDC23	8697	broad.mit.edu	37	5	137527974	137527974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137527974G>A	ENST00000394886.2	-	11	1300	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTGGGCCCGTCTATAATAA	0.438000													26	37					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308000													35	131					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632961	33632961	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33632961C>T	ENST00000374316.5	+	14	2440	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	ITPR3_ENST00000605930.1_Silent_p.N460N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	460					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGAAACTCAACGAGGGCTTCA	0.577000													28	55					0	0	1	0	0
ARF1	375	broad.mit.edu	37	1	228285651	228285651	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228285651C>G	ENST00000541182.1	+	5	745	c.483C>G	c.(481-483)acC>acG	p.T161T	ARF1_ENST00000540651.1_Silent_p.T161T|ARF1_ENST00000272102.5_Silent_p.T161T|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	161					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTGCGCCACCAGCGGCGACG	0.617000													13	22					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577714	109577714	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109577714C>A	ENST00000338432.7	+	2	623	c.504C>A	c.(502-504)ggC>ggA	p.G168G	ACACB_ENST00000377848.3_Silent_p.G168G|ACACB_ENST00000377854.5_Silent_p.G168G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	168					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCATCCTGGGCTCTTTTGATG	0.607000													29	61					1.80694e-10	2.22694e-10	1	1	0
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737297C>T	ENST00000222673.5	+	17	2316	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000447398.1_Silent_p.I769I|OGDH_ENST00000543843.1_Silent_p.I709I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592000													29	69					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99718840	99718840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99718840G>A	ENST00000523601.1	-	8	1022	c.623C>T	c.(622-624)aCt>aTt	p.T208I	STK3_ENST00000419617.2_Missense_Mutation_p.T180I	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	180	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTATTACAGTATTGCGTTT	0.378000													7	98					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496489	113496489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113496489G>T	ENST00000541405.1	-	9	2177	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	CKAP2L_ENST00000302450.6_Missense_Mutation_p.L717M|NT5DC4_ENST00000327581.4_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	717						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCTAACAGTTCATCAAGA	0.448000													53	89					2.0833e-19	2.72694e-19	1	1	0
ITGB3	3690	broad.mit.edu	37	17	45367564	45367564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45367564T>C	ENST00000559488.1	+	8	1065	c.1049T>C	c.(1048-1050)cTc>cCc	p.L350P	ITGB3_ENST00000571680.1_Missense_Mutation_p.L350P|ITGB3_ENST00000560629.1_Silent_p.A338A|ITGB3_ENST00000435993.2_Missense_Mutation_p.L303P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	350	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATAGTGAGCTCATCCCAGGG	0.493000													36	72					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163319	32163319	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32163319A>T	ENST00000375023.3	-	30	6045	c.5907T>A	c.(5905-5907)ccT>ccA	p.P1969P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1969					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAAGGCAAGGAGGCGGGATCG	0.617000													9	66					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127334738	127334738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127334738C>T	ENST00000265056.7	+	9	1706	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	488	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATCTATGGTCATGAAGACAT	0.542000													4	81					0	0	1	0	0
GPATCH11	253635	broad.mit.edu	37	2	37319369	37319369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37319369C>T	ENST00000409774.1	+	6	644	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GPATCH11_ENST00000281932.5_Nonsense_Mutation_p.R64*	NM_174931.2	NP_777591.2			G patch domain containing 11																		AAGAAGCCAGCGAGCCTGTCA	0.373000													4	7					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140476357	140476357	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476357C>T	ENST00000194155.4	+	1	2131	c.1983C>T	c.(1981-1983)caC>caT	p.H661H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.711000													7	75					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141292883	141292883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141292883G>A	ENST00000286364.3	+	14	1492	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K	RASA2_ENST00000452898.1_Missense_Mutation_p.R486K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	486	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATTCTCTAAGGCAGATGGCT	0.328000													14	23					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852291	20852291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20852291C>T	ENST00000262715.5	-	24	3480	c.3440G>A	c.(3439-3441)cGc>cAc	p.R1147H	TEP1_ENST00000556935.1_Missense_Mutation_p.R1039H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1147					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGAAGAAGGCGTGGCCGGGC	0.647000													24	31					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76165893	76165893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76165893G>T	ENST00000267938.4	+	5	954	c.572G>T	c.(571-573)aGg>aTg	p.R191M	UBE2Q2_ENST00000569423.1_Missense_Mutation_p.R156M|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R175M|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R191M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	191					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAGACTCAAAGGCAAGACCAT	0.343000													22	36					7.87624e-14	1.00187e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179494085	179494085	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494085G>A	ENST00000589042.1	-	240	44591	c.44367C>T	c.(44365-44367)taC>taT	p.Y14789Y	TTN_ENST00000460472.2_Silent_p.Y5724Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.Y12221Y|TTN_ENST00000359218.5_Silent_p.Y5849Y|TTN_ENST00000342175.6_Silent_p.Y5916Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.Y13148Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13148	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATATCTTCGTAGGAGAGCT	0.488000													4	49					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863040	4863040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4863040G>A	ENST00000575142.1	-	6	574	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000573366.1_Intron			O75391	SPAG7_HUMAN	sperm associated antigen 7	0						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCCCAGCCGCACTGTGGCC	0.622000													9	119					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131823680	131823680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131823680G>A	ENST00000245414.4	-	3	383	c.125C>T	c.(124-126)gCc>gTc	p.A42V	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.A42V	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	42					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCATGCTTGGCAGCATGCTT	0.537000													4	27					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846053	128846053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128846053G>A	ENST00000249373.3	+	5	1263	c.983G>A	c.(982-984)gGt>gAt	p.G328D		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	328					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATGGCTGGTGTGGTTTGG	0.557000			Mis		skin basal cell								133	92					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569239	127569239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:127569239G>T	ENST00000304916.3	-	2	851	c.396C>A	c.(394-396)caC>caA	p.H132Q	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	132						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			ATACGGCCCAGTGCGGGTACT	0.647000													10	13					4.68919e-08	5.58064e-08	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10251517	10251517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10251517G>T	ENST00000340748.4	-	31	3650	c.3415C>A	c.(3415-3417)Ctg>Atg	p.L1139M	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1139M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1155M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1139	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGTCCGCAGCTTGGGCAGC	0.612000													33	60					2.19358e-23	2.90382e-23	1	1	0
FAM69B	138311	broad.mit.edu	37	9	139617871	139617871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139617871C>T	ENST00000371691.1	+	3	1779	c.680C>T	c.(679-681)gCc>gTc	p.A227V	FAM69B_ENST00000371692.4_Missense_Mutation_p.A314V|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	314						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TTCAAGATGGCCGACCTGCAG	0.647000													10	9					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809210	73809210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73809210G>A	ENST00000334126.7	-	16	3049	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G	C2CD3_ENST00000313663.7_Silent_p.G941G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	941						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CATTTTGGTGGCCTGAAAACA	0.458000													39	41					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630510	32630510	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32630510A>G	ENST00000242310.4	-	1	5157	c.5068T>C	c.(5068-5070)Ttg>Ctg	p.L1690L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1690					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGACAGACAAATTGCTCTCA	0.493000													6	150					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639008	6639008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6639008C>T	ENST00000315579.5	+	29	4520	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1196C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCGAGGCCTCCGTAAGATGCT	0.532000													32	56					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44683580	44683580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44683580C>T	ENST00000454036.1	+	21	2850	c.2774C>T	c.(2773-2775)aCc>aTc	p.T925I	SLC12A5_ENST00000243964.3_Missense_Mutation_p.T902I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	925					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCTTACACCTATGAGAAG	0.567000													7	14					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100353658	100353658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353658C>A	ENST00000294724.4	+	21	3284	c.2806C>A	c.(2806-2808)Ctt>Att	p.L936I	AGL_ENST00000370165.3_Missense_Mutation_p.L936I|AGL_ENST00000361915.3_Missense_Mutation_p.L936I|AGL_ENST00000361522.4_Missense_Mutation_p.L919I|AGL_ENST00000361302.3_Missense_Mutation_p.L920I|AGL_ENST00000370163.3_Missense_Mutation_p.L936I|AGL_ENST00000370161.2_Missense_Mutation_p.L920I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	936					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATGCAGGTCTTCAAGGTAA	0.418000													5	76					0.184627	0.186383	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12738655	12738655	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738655C>A	ENST00000343325.4	+	4	474	c.312C>A	c.(310-312)atC>atA	p.I104I	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.I72I|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGTGTACTATCTGTGGAAAAG	0.433000													16	111					0.000566183	0.000614449	1	1	0
PHF8	23133	broad.mit.edu	37	X	54011402	54011402	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54011402G>A	ENST00000338154.6	-	18	2892	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	PHF8_ENST00000322659.8_Silent_p.N779N|PHF8_ENST00000357988.5_Silent_p.N832N|PHF8_ENST00000338946.6_Silent_p.N695N	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	832	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAGACTGGCGTTCTCCTCCT	0.587000													36	65					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838652	17838652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17838652G>A	ENST00000324096.4	+	5	2610	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R794H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	820	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTCCCTCGCCACGACCCT	0.662000													6	7					0	0	1	0	0
ZNF767	79970	broad.mit.edu	37	7	149317059	149317059	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149317059C>T	ENST00000463567.1	-	0	555					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GGGGTCAGGGCGGCGCCAGTT	0.547000													7	34					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33612935	33612935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33612935T>C	ENST00000291416.5	-	5	1504	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	TRIM62_ENST00000543586.1_Missense_Mutation_p.Q303R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	424	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GAGCAAGCCTTGGTCATAGTC	0.567000													34	44					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62262978	62262978	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62262978A>G	ENST00000371158.2	+	11	1394	c.1280A>G	c.(1279-1281)cAg>cGg	p.Q427R	INADL_ENST00000316485.6_Missense_Mutation_p.Q427R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	427	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGAACATTCAGGGTTTTGCC	0.408000													8	163					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54799345	54799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54799345G>A	ENST00000545554.1	+	22	5332	c.5332G>A	c.(5332-5334)Gca>Aca	p.A1778T	UNC13C_ENST00000260323.11_Missense_Mutation_p.A1778T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1776T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1778	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAGTATGCTGCAATTGTATC	0.313000													3	4					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236770	31236770	+	Silent	SNP	T	T	C	rs143234228		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31236770T>C	ENST00000251758.5	+	3	419	c.168T>C	c.(166-168)tgT>tgC	p.C56C	DDX11_ENST00000545668.1_Silent_p.C56C|DDX11_ENST00000542838.1_Silent_p.C56C|DDX11_ENST00000407793.2_Silent_p.C56C|DDX11_ENST00000228264.6_Silent_p.C30C|DDX11_ENST00000350437.4_Silent_p.C56C			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	56	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTCTTATTTGTGGGGCCCTCT	0.438000										Multiple Myeloma(12;0.14)			6	58					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711000													10	15					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317929	30317929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30317929C>A	ENST00000375377.1	-	3	1249	c.1148G>T	c.(1147-1149)aGc>aTc	p.S383I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	383	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCTGACCGCTGGCCCCAGC	0.627000													6	110					0.00116845	0.00124821	1	1	0
TMF1	7110	broad.mit.edu	37	3	69079032	69079032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69079032C>T	ENST00000543976.1	-	11	2783	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S843N|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	843					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGAAATCTACTGTTTTCCTG	0.403000													41	63					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980054	120980054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120980054C>T	ENST00000392793.1	+	4	604	c.333C>T	c.(331-333)atC>atT	p.I111I	TECTA_ENST00000264037.2_Silent_p.I111I			O75443	TECTA_HUMAN	tectorin alpha	111	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCGAGATCTATTACAGAG	0.507000													18	32					0	0	1	0	0
RPL12P38	0	broad.mit.edu	37	17	58511092	58511092	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58511092C>T	ENST00000588627.1	-	0	2265																											GCTTAACTAGCTGGGCATTCC	0.403000													11	14					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132211485	132211485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132211485G>T	ENST00000360971.2	+	25	2632	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTAGCATGGGAAGCATGAC	0.398000													9	76					3.86212e-05	4.30401e-05	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11872633	11872633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11872633A>G	ENST00000262442.3	+	69	13318	c.13250A>G	c.(13249-13251)gAg>gGg	p.E4417G	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4341G|DNAH9_ENST00000396001.2_Missense_Mutation_p.E729G|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4417					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATTACAGAGGCAAAGCTG	0.522000													6	82					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167757092	167757092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757092C>T	ENST00000359523.2	+	6	946	c.744C>T	c.(742-744)ggC>ggT	p.G248G	MPZL1_ENST00000392121.3_Silent_p.G98G|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	248					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.G248G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACCACTCCGGCGGACATCACA	0.463000													14	23					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834464	168834464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834464G>A	ENST00000464456.1	-	7	1832	c.632C>T	c.(631-633)gCt>gTt	p.A211V	MECOM_ENST00000472280.1_Missense_Mutation_p.A212V|MECOM_ENST00000468789.1_Missense_Mutation_p.A211V|MECOM_ENST00000460814.1_Missense_Mutation_p.A211V|MECOM_ENST00000433243.2_Missense_Mutation_p.A212V|MECOM_ENST00000392736.3_Missense_Mutation_p.A211V|MECOM_ENST00000264674.3_Missense_Mutation_p.A276V|MECOM_ENST00000494292.1_Missense_Mutation_p.A399V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAATCAGCATGCATGCG	0.418000													56	84					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371473	33371473	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33371473C>T	ENST00000270112.2	+	11	2481	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	707					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACATGGCCGATGGGGTCA	0.592000													20	52					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000528231.1_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398000													9	125					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005175	101005175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101005175C>T	ENST00000556751.1	-	5	4125	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	BEGAIN_ENST00000443071.2_Missense_Mutation_p.A305T|BEGAIN_ENST00000355173.2_Missense_Mutation_p.A305T			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	305						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCGACGTGGCGCTGAAGCTG	0.692000													4	5					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65745328	65745328	+	Silent	SNP	C	C	T	rs149311843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65745328C>T	ENST00000312397.5	+	17	2222	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	710					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTTAAGATCGAATACGTGG	0.612000													6	17					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824284	74824284	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824284G>A	ENST00000256362.4	+	2	1039	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	266					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACTCTCATCGCCGGCCAAGA	0.642000													16	29					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074825	140074825	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140074825G>A	ENST00000323927.2	-	10	1702	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCGGCGGGAGTCCGCCATGT	0.667000													13	26					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13758996	13758996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13758996C>T	ENST00000265104.4	-	61	10482	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3460	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547000									Kartagener syndrome				43	82					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1231407	1231407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1231407G>A	ENST00000354700.5	-	17	1692	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A455V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	497	Arf-GAP.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGGCTGTGGGTTT	0.622000													9	32					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15527469	15527469	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15527469A>T	ENST00000357607.2	+	3	344	c.156A>T	c.(154-156)aaA>aaT	p.K52N	BMX_ENST00000348343.6_Missense_Mutation_p.K52N|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000342014.6_Missense_Mutation_p.K52N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	52	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGCAGAAAAGGATCCATTG	0.403000													6	22					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54305610G>T	ENST00000545554.1	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D|UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473000													16	81					1.45105e-14	1.85325e-14	1	1	0
TTBK1	84630	broad.mit.edu	37	6	43251565	43251565	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43251565G>A	ENST00000259750.4	+	14	3170	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1029						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGGTGTCCCCGCTGGAGCCAA	0.677000													19	30					0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	498076	498076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:498076C>A	ENST00000534797.1	-	7	2429	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	RNH1_ENST00000438658.2_Missense_Mutation_p.R341M|RNH1_ENST00000397615.2_Missense_Mutation_p.R341M|RNH1_ENST00000533410.1_Missense_Mutation_p.R341M|RNH1_ENST00000397604.3_Missense_Mutation_p.R341M|RNH1_ENST00000356187.5_Missense_Mutation_p.R341M|RNH1_ENST00000397614.1_Missense_Mutation_p.R341M|RNH1_ENST00000354420.2_Missense_Mutation_p.R341M			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	341					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGAGAAACCTGTTCTGGGC	0.642000													5	55					0.184627	0.186383	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44666019C>A	ENST00000454036.1	+	6	752	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L203M|SLC12A5_ENST00000372315.1_Missense_Mutation_p.L203M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577000													11	24					0.000978159	0.00105116	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761668	55761668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761668G>T	ENST00000278409.1	-	1	433	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCCCGGCTGCCATTTTTAG	0.502000													26	25					3.08376e-08	3.68275e-08	1	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30532336	30532336	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30532336C>T	ENST00000399935.2	+	9	874	c.207C>T	c.(205-207)taC>taT	p.Y69Y	MAP3K7CL_ENST00000341618.4_Silent_p.Y169Y|MAP3K7CL_ENST00000339024.4_Silent_p.Y69Y|MAP3K7CL_ENST00000399947.2_Silent_p.Y169Y|MAP3K7CL_ENST00000399928.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399934.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399926.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399925.1_Silent_p.Y69Y|MAP3K7CL_ENST00000545939.1_Silent_p.Y63Y|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		CAGAAGAATACCATGAGGTCA	0.493000													28	46					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58723154G>A	ENST00000300079.5	+	7	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498000													11	56					0	0	1	0	0
CEBPB	1051	broad.mit.edu	37	20	48808604	48808604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48808604G>A	ENST00000303004.3	+	1	1229	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	345					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCCGGCCACTGCTAgcgcggc	0.776000													3	4					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903303	22903303	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22903303C>T	ENST00000166244.3	+	3	825	c.753C>T	c.(751-753)ggC>ggT	p.G251G	EPHA8_ENST00000374644.4_Silent_p.G251G|EPHA8_ENST00000538803.1_Silent_p.G251G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	251	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCGGAGGGCGAGTGGCTCG	0.682000													14	13					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36571896	36571896	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36571896A>T	ENST00000431169.1	-	17	1661	c.1361T>A	c.(1360-1362)cTc>cAc	p.L454H	AOAH_ENST00000535891.1_Missense_Mutation_p.L422H|AOAH_ENST00000538464.1_Missense_Mutation_p.L176H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Missense_Mutation_p.L454H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	454					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTCACCTGGAGGCAGTTCAG	0.527000													6	127					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966991G>A	ENST00000298919.7	+	10	2018	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517000													63	103					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4714097	4714097	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4714097G>A	ENST00000262960.9	-	4	586	c.309C>T	c.(307-309)taC>taT	p.Y103Y	DPP9_ENST00000597849.1_Silent_p.Y103Y|DPP9_ENST00000598800.1_Silent_p.Y74Y|DPP9_ENST00000594671.1_Silent_p.Y74Y	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	74					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTTACCCAGGTAGTAGAGGC	0.622000													4	2					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53344642	53344642	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53344642C>T	ENST00000550600.1	+	4	663	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT18_ENST00000388837.2_Silent_p.I203I|KRT18_ENST00000388835.3_Silent_p.I203I			P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572000													5	5					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68705683	68705683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68705683A>G	ENST00000255078.3	+	14	2756	c.2645A>G	c.(2644-2646)gAc>gGc	p.D882G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	882					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGAGGAGGACTTTGAGGCC	0.582000													21	60					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617633	111617633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617633G>A	ENST00000374667.3	-	1	1606	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	193						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCCCCGAGGTCTTGCC	0.662000													5	32					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247931	247931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:247931G>A	ENST00000538872.1	+	4	1520	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	IQSEC3_ENST00000326261.4_Missense_Mutation_p.A468T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A165T|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	468					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggATGACGCCGCGGAGACCCC	0.761000													3	6					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088055	69088055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69088055C>A	ENST00000543976.1	-	7	2188	c.1942G>T	c.(1942-1944)Gac>Tac	p.D648Y	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D645Y|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	645					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCCATGTCTACCTGAAGA	0.373000													34	45					5.8336e-16	7.50681e-16	1	1	0
MDN1	23195	broad.mit.edu	37	6	90460196	90460196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90460196G>T	ENST00000369393.3	-	24	3398	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K	MDN1_ENST00000428876.1_Missense_Mutation_p.Q1095K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1095					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGCCACTGGATCAGGCTT	0.423000													32	260					2.87052e-16	3.7018e-16	1	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105420437	105420437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105420437T>C	ENST00000258494.9	-	22	2742	c.2602A>G	c.(2602-2604)Atg>Gtg	p.M868V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	868	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCACATACATAGCTTTGTTT	0.423000													34	195					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116628595	116628595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116628595C>T	ENST00000260210.4	-	8	1594	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BUD13_ENST00000375445.3_Missense_Mutation_p.R390H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	524										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCAATATAGCGGGCCAGAGG	0.488000													13	131					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25465722	25465722	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25465722G>A	ENST00000424208.1	+	0	3039				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TTACATTGAAGCCCAGGATAG	0.468000													29	66					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40078672	40078672	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40078672A>G	ENST00000324616.5	+	10	1444	c.1290A>G	c.(1288-1290)ggA>ggG	p.G430G	C12orf40_ENST00000405531.3_Silent_p.G430G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCCTTAGGGGAAATATACCTT	0.373000													8	65					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32345949	32345949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32345949G>A	ENST00000283365.9	+	4	443	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNA_ENST00000269190.7_Missense_Mutation_p.R31Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R31Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R31Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R31Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R31Q|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000598334.1_Missense_Mutation_p.R31Q|DTNA_ENST00000554864.3_Missense_Mutation_p.R31Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R31Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R31Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R31Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R31Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R31Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCGCATCCGACTCTCCACC	0.403000													12	21					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40991321	40991321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40991321G>A	ENST00000293362.3	+	10	808	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PSME3_ENST00000590720.1_Missense_Mutation_p.R203H|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.R214H|PSME3_ENST00000545225.1_Missense_Mutation_p.R142H|PSME3_ENST00000592169.1_Missense_Mutation_p.R147H	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGACTATCGCCGCACCGTG	0.468000													24	25					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839787	128839787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128839787C>T	ENST00000310343.9	-	22	5278	c.5279G>A	c.(5278-5280)cGt>cAt	p.R1760H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1760	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCCGAGCACGGCTCTCTCT	0.552000													35	35					0	0	1	0	0
MTHFS	10588	broad.mit.edu	37	15	80181638	80181638	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80181638T>C	ENST00000258874.3	-	2	236	c.176A>G	c.(175-177)cAa>cGa	p.Q59R	ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.Q35R	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCATCTTGCATGCTCAG	0.393000													39	61					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929971	35929971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35929971C>T	ENST00000374694.1	-	1	391	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	129	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGTCGGGCCAGGCGAAGC	0.711000													8	7					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65628259	65628259	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65628259A>C	ENST00000580974.1	+	6	1063	c.366_splice	c.e6-1	p.I123_splice	PITPNC1_ENST00000335257.6_Splice_Site_p.I123_splice|PITPNC1_ENST00000581322.1_Splice_Site_p.I123_splice|PITPNC1_ENST00000299954.9_Splice_Site_p.I123_splice	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	123					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCTTTTTCAGATTTTCGACAA	0.443000													3	35					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49062226	49062226	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49062226C>T	ENST00000376265.2	-	47	5614	c.5553G>A	c.(5551-5553)ccG>ccA	p.P1851P	CACNA1F_ENST00000376251.1_Silent_p.P1786P|CACNA1F_ENST00000323022.5_Silent_p.P1840P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1851					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAACAACAGCGGGGCATACA	0.627000													6	6					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62949858	62949858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62949858C>T	ENST00000393630.3	+	26	3689	c.3298C>T	c.(3298-3300)Ctc>Ttc	p.L1100F	MON2_ENST00000280379.6_Missense_Mutation_p.L1100F|MON2_ENST00000393629.2_Missense_Mutation_p.L1099F|MON2_ENST00000393632.2_Missense_Mutation_p.L1099F|MON2_ENST00000546600.1_Missense_Mutation_p.L1099F|MON2_ENST00000552738.1_Missense_Mutation_p.L1076F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1100					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGCAATATTCTCATTCATCA	0.418000													14	22					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48689349	48689349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689349G>A	ENST00000544264.1	-	12	6164	c.5884C>T	c.(5884-5886)Cgg>Tgg	p.R1962W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1962W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1962	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGGTCCCGGCAGTCTGCG	0.657000													37	67					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113326460	113326460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326460C>T	ENST00000263331.5	+	12	2635	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	POLR1B_ENST00000537335.1_Silent_p.N474N|POLR1B_ENST00000409894.3_Silent_p.N502N|POLR1B_ENST00000541869.1_Silent_p.N723N|POLR1B_ENST00000417433.2_Silent_p.N629N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	685					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCACGGAACATGTACCAAT	0.443000													5	27					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493176	3493176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3493176C>T	ENST00000174621.6	-	5	1252	c.963G>A	c.(961-963)acG>acA	p.T321T	TRPV1_ENST00000399759.3_Silent_p.T323T|TRPV1_ENST00000310522.5_Silent_p.T323T|TRPV1_ENST00000399756.4_Silent_p.T323T|SHPK_ENST00000572705.1_Silent_p.T323T|TRPV1_ENST00000571088.1_Silent_p.T323T|TRPV1_ENST00000576351.1_Silent_p.T323T|TRPV1_ENST00000425167.2_Silent_p.T323T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	323					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAGCTTCAGCGTCGGGTGCA	0.607000													7	8					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34326954	34326954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34326954G>T	ENST00000257209.4	+	21	3685	c.3563G>T	c.(3562-3564)aGa>aTa	p.R1188I	FHOD3_ENST00000592128.1_Missense_Mutation_p.R167I|FHOD3_ENST00000359247.4_Missense_Mutation_p.R1171I|FHOD3_ENST00000591635.1_Missense_Mutation_p.R384I|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1363I|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1150I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1171	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGGAGAGAAGATGCAAAGCT	0.433000													21	32					3.62473e-10	4.44982e-10	1	1	0
CBX4	8535	broad.mit.edu	37	17	77808500	77808500	+	Missense_Mutation	SNP	G	G	A	rs140935310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808500G>A	ENST00000269397.4	-	5	1118	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	314	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTGCGCCCGCCGCCTTTTT	0.692000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	19					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996525	4996525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996525G>A	ENST00000380051.2	-	6	733	c.689C>T	c.(688-690)aCg>aTg	p.T230M	RPP40_ENST00000464646.1_Missense_Mutation_p.T170M|RPP40_ENST00000319533.5_Missense_Mutation_p.T207M	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	230					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACCTCTGGCGTTCCCTCCAG	0.567000													31	47					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56051876	56051876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56051876C>T	ENST00000584396.1	-	6	1585	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	VEZF1_ENST00000581208.1_Missense_Mutation_p.M508I			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	508					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAAGAAAGGCATGCTCTCTA	0.408000													31	45					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94126758	94126758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94126758C>T	ENST00000243673.2	-	3	711	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GPR83_ENST00000539203.2_Silent_p.R138R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	180						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATTGAGATCCGGGGTTTCA	0.463000													18	30					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684837	100684837	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684837T>A	ENST00000306151.4	+	3	10204	c.10140T>A	c.(10138-10140)tcT>tcA	p.S3380S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3380	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTTTATCTCCTACAACTG	0.522000													26	371					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826516	76826516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76826516G>A	ENST00000278559.3	+	6	964	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.V259M|CAPN5_ENST00000456580.2_Missense_Mutation_p.V299M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	259	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGTCACTGATGTGCGCAAGGT	0.637000													15	23					0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8902618	8902618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8902618C>T	ENST00000357529.3	+	4	1598	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.C112C	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	112					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.C112C(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473000													27	50					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023843	6023843	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023843A>G	ENST00000330728.4	-	1	581	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATGGCCACATAACGGTC	0.493000													10	15					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170288	59170288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59170288C>T	ENST00000262717.4	+	5	1162	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CDH20_ENST00000536675.2_Missense_Mutation_p.A255V|CDH20_ENST00000538374.1_Missense_Mutation_p.A255V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	255	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGATTAGCTGGGACCACA	0.507000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	75					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040344	153040344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153040344C>T	ENST00000538966.1	+	25	4281	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	PLXNB3_ENST00000361971.5_Missense_Mutation_p.T1314M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.T967M|PLXNB3_ENST00000538282.1_Silent_p.D948D	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1314					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCATGACGGAGATGACC	0.687000													32	46					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172398116	172398116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398116C>T	ENST00000321348.4	+	2	413	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14L	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TACAGACTGCCGTGGACCTGG	0.438000													19	48					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637893	7637893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7637893G>A	ENST00000572933.1	+	7	2305	c.845G>A	c.(844-846)cGc>cAc	p.R282H	DNAH2_ENST00000570791.1_Missense_Mutation_p.R282H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R282H|DNAH2_ENST00000082259.3_Missense_Mutation_p.R282H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	282	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTTCTGGCGCAACCGATGC	0.527000													19	29					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118620	11118620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11118620C>A	ENST00000358026.2	+	14	2328	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	SMARCA4_ENST00000590574.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L682M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L682M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	682					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCCCACCCTGCCCGTGGA	0.607000			"""F, N, Mis"""		NSCLC								3	24					1	1	1	1	0
ZNF254	9534	broad.mit.edu	37	19	24310260	24310260	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:24310260A>T	ENST00000357002.4	+	4	1573	c.1458A>T	c.(1456-1458)ggA>ggT	p.G486G	ZNF254_ENST00000342944.6_Silent_p.G401G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	486					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGCACACTGGAGAGAAACCCT	0.388000													4	48					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908723	2908723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2908723G>A	ENST00000254695.8	+	15	1351	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V402I|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V421I|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V406I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	421	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTCCCCCCGTTTTCCAGAA	0.562000													71	87					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31791292	31791292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31791292C>T	ENST00000446923.2	+	4	679	c.288C>T	c.(286-288)tgC>tgT	p.C96C	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000320985.10_Silent_p.C112C|ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000542815.3_Silent_p.C45C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338000													17	37					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24007070	24007070	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24007070A>G	ENST00000328046.8	-	4	1038	c.783T>C	c.(781-783)aaT>aaC	p.N261N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	261										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GCTGGTGAACATTCTGAAAGT	0.398000													57	87					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	605215	605215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:605215G>A	ENST00000251287.2	+	3	1264	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	404					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCAATGGCATGGTGGTG	0.642000													15	31					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824126	146824126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146824126C>A	ENST00000508784.1	-	2	512	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.L95L			Q17R98	ZN827_HUMAN	zinc finger protein 827	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTGACACTGCAGTGAGTCTC	0.602000													18	24					0.006122	0.00643812	1	1	0
C14orf28	122525	broad.mit.edu	37	14	45370061	45370061	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370061A>C	ENST00000325192.3	+	2	698	c.423A>C	c.(421-423)aaA>aaC	p.K141N	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.K141N|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	141										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATTTTACAAAAAATCTTGAAA	0.368000													12	27					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62165444	62165444	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62165444C>A	ENST00000261517.5	-	78	10652		c.e78+1		VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGAACTTACTCGCAGAAAG	0.418000													64	111					9.61844e-40	1.29731e-39	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87966302	87966302	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87966302T>G	ENST00000369577.3	+	8	2998	c.2955T>G	c.(2953-2955)ggT>ggG	p.G985G	ZNF292_ENST00000339907.4_Silent_p.G980G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATCCAGGTTTCCAGGAGA	0.403000													37	49					0	0	1	0	0
IGHV3-72	0	broad.mit.edu	37	14	107199127	107199127	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199127G>T	ENST00000433072.2	-	0	241																											GGCGGACCCAGTCCATGTAGT	0.587000													33	43					1.26612e-14	1.61806e-14	1	1	0
PEX6	5190	broad.mit.edu	37	6	42936095	42936095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42936095G>A	ENST00000304611.8	-	7	1690	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	PEX6_ENST00000244546.4_Silent_p.L541L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	541					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCTCACCCAGCCCATCACGG	0.622000													18	27					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73964217	73964217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73964217C>A	ENST00000358602.4	-	26	4710	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E1419*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E1281*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1532					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGGAGGTTCTGTCAAGACT	0.383000													8	60					0.00448238	0.00472561	1	1	0
IFIT2	3433	broad.mit.edu	37	10	91066350	91066350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066350G>A	ENST00000371826.3	+	2	806	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	213					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTACCTTAAAGTCCTCCTGGC	0.502000													17	32					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67998332	67998332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67998332G>A	ENST00000262210.5	+	4	429	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	133						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTACAGACGTTATCTTACT	0.308000													34	35					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9522280	9522280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9522280G>T	ENST00000019317.4	+	4	1049	c.826G>T	c.(826-828)Gag>Tag	p.E276*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.E276*			Q15311	RBP1_HUMAN	ralA binding protein 1	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGACCTTCCAGAGAATTTGCT	0.473000													7	53					0.000274275	0.000298791	1	1	0
PCDHA6	0	broad.mit.edu	37	5	140209489	140209489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209489G>A	ENST00000529310.1	+	1	1927	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.652000													16	31					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225673	61225673	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61225673G>T	ENST00000382768.1	+	2	257	c.257G>T	c.(256-258)aGc>aTc	p.S86I	SERPINB12_ENST00000269491.1_Intron			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGCTGACAGCTCTCTGGAG	0.443000													23	33					1.9806e-07	2.3338e-07	1	1	0
CXCR6	10663	broad.mit.edu	37	3	45988627	45988627	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45988627G>A	ENST00000458629.1	+	1	2117	c.654G>A	c.(652-654)ctG>ctA	p.L218L	FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Silent_p.L218L|CXCR6_ENST00000438735.1_Silent_p.L218L|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.L218L|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	218					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCAAAACACTGCTTCATGCTG	0.483000													4	72					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51159495	51159495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51159495G>T	ENST00000414786.2	+	21	3419	c.3192G>T	c.(3190-3192)aaG>aaT	p.K1064N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1080N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1094N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1094										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCCTGAAGCCGTTGGTCA	0.726000													6	8					0.0477658	0.0488009	1	1	0
TTC16	158248	broad.mit.edu	37	9	130493461	130493461	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493461G>A	ENST00000373289.3	+	14	2479	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	800							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACTGCTCCGAAGTTCCACC	0.602000													4	25					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67477152	67477152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67477152G>A	ENST00000327367.4	+	7	1269	c.959G>A	c.(958-960)tGt>tAt	p.C320Y	SMAD3_ENST00000439724.3_Missense_Mutation_p.C276Y|SMAD3_ENST00000540846.2_Missense_Mutation_p.C215Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.C125Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	320	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCCAACTGTAACCAGCGC	0.592000													11	59					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85622381	85622381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85622381G>T	ENST00000280245.4	+	8	1242	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CCDC83_ENST00000342404.3_Missense_Mutation_p.A244S|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000376067.1_Missense_Mutation_p.A145S	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	244										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAACTGGAAGCAGAAAATTT	0.333000													26	72					7.01153e-11	8.6781e-11	1	1	0
CP	1356	broad.mit.edu	37	3	148925399	148925399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148925399T>C	ENST00000264613.6	-	5	1049	c.787A>G	c.(787-789)Aat>Gat	p.N263D		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGTATCCATTCACAGCTGTA	0.398000													5	61					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616261	68616261	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68616261G>T	ENST00000396496.2	-	2	214	c.107C>A	c.(106-108)cCt>cAt	p.P36H	CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.P36H|CCDC125_ENST00000383374.2_Missense_Mutation_p.P36H|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	36						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATCCCACCAGGTTTCCTTCC	0.438000													9	105					3.86212e-05	4.30401e-05	1	1	0
UTP20	27340	broad.mit.edu	37	12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101720944C>T	ENST00000261637.4	+	26	3301	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478000													40	53					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809314	23809314	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23809314T>C	ENST00000354639.3	+	13	2047	c.1583T>C	c.(1582-1584)aTt>aCt	p.I528T	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.I528T|STK31_ENST00000355870.3_Missense_Mutation_p.I551T|STK31_ENST00000433467.2_Missense_Mutation_p.I551T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGGATAATATTGATGAAATC	0.358000													13	219					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129385	68129385	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129385C>A	ENST00000585558.1	+	4	1650	c.1262C>A	c.(1261-1263)cCt>cAt	p.P421H	KCNJ16_ENST00000392671.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P425H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P386H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	386					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTGAAAACCCTGAGGAGACC	0.468000													7	54					0.248553	0.25002	1	1	0
SLC16A5	9121	broad.mit.edu	37	17	73096509	73096509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73096509G>A	ENST00000450736.2	+	4	1166	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SLC16A5_ENST00000580123.1_Missense_Mutation_p.G251S|SLC16A5_ENST00000329783.4_Missense_Mutation_p.G251S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G291S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	251					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTCCGTCCTGGGCTTCCCACT	0.607000													108	153					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037907	148037907	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037907T>G	ENST00000370460.2	+	11	2811	c.2332T>G	c.(2332-2334)Ttt>Gtt	p.F778V	AFF2_ENST00000342251.3_Missense_Mutation_p.F745V|AFF2_ENST00000286437.5_Missense_Mutation_p.F419V|AFF2_ENST00000370457.5_Missense_Mutation_p.F745V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	778					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACATTTTCACCTAT	0.458000													5	75					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793483	109793483	+	Missense_Mutation	SNP	C	C	T	rs41279702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109793483C>T	ENST00000271332.3	+	1	843	c.782C>T	c.(781-783)gCg>gTg	p.A261V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	261	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGGTCACGGCGCAGGACCAC	0.587000													33	22					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729111	8729111	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8729111C>T	ENST00000381920.3	+	5	900	c.642C>T	c.(640-642)gcC>gcT	p.A214A	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Silent_p.A158A	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	214							methyltransferase activity			large_intestine(5)|lung(4)	9						AGCTCGGGGCCGGCACGGGGC	0.612000													35	41					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665697	155665697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665697G>A	ENST00000336356.3	+	2	472	c.219G>A	c.(217-219)atG>atA	p.M73I	LRAT_ENST00000507827.1_Missense_Mutation_p.M73I	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	73					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTGCCCACATGATGCCCGACA	0.587000													4	42					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81945967	81945967	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81945967G>A	ENST00000336735.4	-	20	2280	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	722	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTGTTTCCCGTATGTACTGC	0.443000													29	44					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512793	70512793	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512793A>C	ENST00000503640.1	-	1	625	c.570T>G	c.(568-570)ccT>ccG	p.P190P	UGT2A1_ENST00000286604.4_Silent_p.P190P|UGT2A1_ENST00000514019.1_Silent_p.P190P|UGT2A1_ENST00000512704.1_Silent_p.P190P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	190					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAACATAGGAAGGAGGGTATG	0.408000													8	62					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539849	94539849	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94539849A>C	ENST00000289495.5	+	1	640	c.424A>C	c.(424-426)Act>Cct	p.T142P	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T142P|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T142P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	142	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTCACTGAGACTCGAAAGAT	0.428000										HNSCC(28;0.073)			4	160					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069203	153069203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069203G>A	ENST00000164640.4	-	8	2106	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	PDZD4_ENST00000544474.1_Missense_Mutation_p.R530W|PDZD4_ENST00000393758.2_Missense_Mutation_p.R564W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	639						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGGGCCGCTTGGCCACG	0.682000													26	41					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491744	1491744	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1491744C>T	ENST00000345913.4	+	10	1840	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TPO_ENST00000329066.4_Silent_p.G583G|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.G583G|TPO_ENST00000349624.3_Silent_p.G410G|TPO_ENST00000382201.3_Intron|TPO_ENST00000337415.3_Silent_p.G583G|TPO_ENST00000382198.1_Silent_p.G410G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	583					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAGGGGCCGGGACCACG	0.592000													12	41					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188215	81188215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81188215C>A	ENST00000456523.3	+	1	423	c.237C>A	c.(235-237)ttC>ttA	p.F79L	FGF5_ENST00000312465.7_Missense_Mutation_p.F79L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	79					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAGCAGTTTCCAGTGGAGCC	0.612000													32	62					1.47244e-24	1.95393e-24	1	1	0
IFIT3	3437	broad.mit.edu	37	10	91098617	91098617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91098617G>A	ENST00000371818.4	+	2	385	c.205G>A	c.(205-207)Gca>Aca	p.A69T	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A69T|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	69					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TAACAACGAGGCAGCCCTGGA	0.428000													38	47					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78079616	78079616	+	Silent	SNP	G	G	A	rs141427808		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78079616G>A	ENST00000302262.3	+	3	834	c.615G>A	c.(613-615)ccG>ccA	p.P205P	GAA_ENST00000390015.3_Silent_p.P205P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	205					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGGGCACCGTCCCCACTCT	0.622000													6	49					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134371213	134371213	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134371213C>T	ENST00000357304.4	+	31	6697	c.6642C>T	c.(6640-6642)acC>acT	p.T2214T	PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000405995.1_Silent_p.T1520T|PRRC2B_ENST00000458550.1_Silent_p.T1520T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2214							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGAAGCGAACCGGAGCGATCA	0.617000													4	31					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37721297	37721297	+	Silent	SNP	C	C	T	rs112595440	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37721297C>T	ENST00000265107.4	+	14	1653	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	499										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCTATTACGACCCCAACA	0.468000													33	47					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5043827	5043827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5043827G>A	ENST00000380753.4	-	2	318	c.131C>T	c.(130-132)gCc>gTc	p.A44V	AKR1C2_ENST00000407674.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000455190.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A44V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	44					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	GTGGAACCCGGCTTCTATTGC	0.448000													36	58					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35576557	35576557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35576557C>A	ENST00000261475.5	-	6	879	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	176						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAACTGAGTCCTATTCTTGTT	0.333000													33	52					6.29468e-14	8.01189e-14	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79382709	79382709	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79382709G>A	ENST00000419573.3	-	1	406	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RASGRF1_ENST00000558480.2_Silent_p.F44F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	44	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCAGCGCGAACCACTTGG	0.642000													37	58					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706000													10	4					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48749833	48749833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48749833G>A	ENST00000314191.2	-	58	7754	c.7698C>T	c.(7696-7698)agC>agT	p.S2566S	PRKDC_ENST00000338368.3_Silent_p.S2566S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2567	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGGCTCATGCTGGTCATTT	0.403000								Non-homologous end-joining					11	18					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846534	123846534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846534C>T	ENST00000369005.1	+	4	4859	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R1507W|TACC2_ENST00000515273.1_Missense_Mutation_p.R1507W|TACC2_ENST00000453444.2_Missense_Mutation_p.R1507W|TACC2_ENST00000515603.1_Missense_Mutation_p.R1507W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1507						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCTGGGAGCGGAACTTGCC	0.622000													9	37					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299000													23	34					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58262160	58262160	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58262160T>C	ENST00000317178.5	+	2	304	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ZNF776_ENST00000431353.1_Missense_Mutation_p.V14A	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CAGGGCACTGTGACCTTTGAA	0.498000													7	54					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112927863	112927863	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112927863C>T	ENST00000161863.4	+	28	4413	c.4200C>T	c.(4198-4200)agC>agT	p.S1400S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1400	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCAGATAAGCAGGGATGGGC	0.358000													8	13					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749948	24749948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24749948C>T	ENST00000545231.1	-	8	1415	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	DFNA5_ENST00000409970.1_Missense_Mutation_p.V89I|DFNA5_ENST00000342947.3_Missense_Mutation_p.V253I|DFNA5_ENST00000419307.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409775.3_Missense_Mutation_p.V253I|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	253					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCCAGGTAGACAGAGTCAATT	0.468000													65	38					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190336	59190336	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59190336A>C	ENST00000302040.4	-	1	113	c.91T>G	c.(91-93)Tta>Gta	p.L31V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCAGAAATAACATGAAAAGG	0.453000													39	59					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55269715	55269715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55269715C>T	ENST00000256854.5	-	13	1842	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	NARS_ENST00000423481.2_Missense_Mutation_p.D214N	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	463					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	ATCAACACGTCGACCTTTAAA	0.398000													4	65					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850491	99850491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99850491G>A	ENST00000369239.5	-	11	1456	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.R418*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	418						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGCCGGATTCGATGCCGTAAT	0.418000													48	108					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931569	144931569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144931569G>A	ENST00000529945.1	-	1	579	c.140C>T	c.(139-141)gCc>gTc	p.A47V	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A47V|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCGAACTCGGCTTTGCCATC	0.537000			T	PDGFRB	MPD								11	81					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872641	111872641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111872641A>G	ENST00000277900.8	+	3	667	c.302A>G	c.(301-303)aAt>aGt	p.N101S	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.N101S|ADD3_ENST00000360162.3_Missense_Mutation_p.N101S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	101						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATCATGGCCAATTCTTTCTCG	0.393000													12	168					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765893	60765893	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60765893C>A	ENST00000303375.5	+	22	3495	c.3093C>A	c.(3091-3093)acC>acA	p.T1031T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1031	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAATGTGACCTTTGACCTTT	0.552000													6	150					0.00116845	0.00124821	1	1	0
CDH11	1009	broad.mit.edu	37	16	65032517	65032517	+	Silent	SNP	C	C	T	rs138088413	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65032517C>T	ENST00000394156.3	-	4	924	c.471G>A	c.(469-471)ccG>ccA	p.P157P	CDH11_ENST00000268603.4_Silent_p.P157P|CDH11_ENST00000566827.1_Silent_p.P31P			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	157	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P157P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAGGAACTCCGGAGGGTTGT	0.582000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	63					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360514	42360514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360514G>T	ENST00000298119.4	+	4	2636	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	483	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTATGTATGACTTGTGTGT	0.418000										HNSCC(30;0.082)			53	82					7.34454e-26	9.77834e-26	1	1	0
WNK4	65266	broad.mit.edu	37	17	40947503	40947503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40947503C>A	ENST00000246914.5	+	15	3007	c.2986C>A	c.(2986-2988)Ctc>Atc	p.L996I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	996					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCTCGGCCCCTCCCAGGGGA	0.582000													8	100					5.18039e-06	5.91835e-06	1	1	0
GAREM	64762	broad.mit.edu	37	18	29848396	29848396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29848396C>T	ENST00000399218.4	-	6	2121	c.2066G>A	c.(2065-2067)aGc>aAc	p.S689N	GAREM_ENST00000269209.6_Missense_Mutation_p.S690N	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGAGACGCTGCTACTGAATTC	0.537000													13	64					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757829	8757829	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8757829C>T	ENST00000229335.6	-	3	512	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AICDA_ENST00000537228.1_Missense_Mutation_p.A137T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	137					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCATGATGGCTATTTGCACC	0.627000													9	21					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783770	121783770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121783770C>T	ENST00000261819.3	-	4	583	c.462G>A	c.(460-462)ctG>ctA	p.L154L	ANAPC5_ENST00000541887.1_Silent_p.L154L|ANAPC5_ENST00000536366.1_Silent_p.L33L|ANAPC5_ENST00000441917.2_Silent_p.L55L|ANAPC5_ENST00000344395.4_Silent_p.L55L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCAGTGTACAGTTTAAACA	0.428000													18	144					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828821	51828821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51828821C>T	ENST00000251076.5	-	12	2143	c.1856G>A	c.(1855-1857)gGt>gAt	p.G619D	DMXL2_ENST00000449909.3_Missense_Mutation_p.G619D|DMXL2_ENST00000543779.2_Missense_Mutation_p.G619D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	619						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTAAAGAACCATCTATGTG	0.418000													6	80					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958573G>A	ENST00000370756.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T|PTGFR_ENST00000370757.3_Missense_Mutation_p.A49T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448000													36	104					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38099827	38099827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099827G>T	ENST00000397166.2	+	7	1297	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	DDHD2_ENST00000520272.2_Nonsense_Mutation_p.E258*|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	258					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAAGCCCAAGAAAATCAGCA	0.378000													5	44					3.59834e-05	4.01776e-05	1	1	0
GRB7	2886	broad.mit.edu	37	17	37902408	37902408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37902408C>T	ENST00000309156.4	+	14	1662	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	GRB7_ENST00000309185.3_Silent_p.S439S|GRB7_ENST00000445327.2_Missense_Mutation_p.L492F|GRB7_ENST00000394211.3_Missense_Mutation_p.L469F|GRB7_ENST00000394204.1_Silent_p.S439S|GRB7_ENST00000394209.2_Missense_Mutation_p.L469F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	469	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCTTTGTCCTCTCTTTGTG	0.587000													62	89					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548731	47548731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548731C>T	ENST00000273859.3	+	10	1756	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P481L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	496					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGCAAAACCGAGAGCCCCC	0.483000													37	64					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970727	123970727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123970727G>A	ENST00000369005.1	+	9	7127	c.6787G>A	c.(6787-6789)Gta>Ata	p.V2263I	TACC2_ENST00000260733.3_Missense_Mutation_p.V341I|TACC2_ENST00000369004.3_Missense_Mutation_p.V341I|TACC2_ENST00000358010.1_Missense_Mutation_p.V409I|TACC2_ENST00000513429.1_Missense_Mutation_p.V409I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.V2263I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2267I|TACC2_ENST00000360561.3_Missense_Mutation_p.V341I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.V2267I|TACC2_ENST00000368999.1_Missense_Mutation_p.V341I|TACC2_ENST00000515603.1_Missense_Mutation_p.V2218I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCTCTCCGTAAGGCTGGA	0.567000													15	18					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725163	7725163	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7725163C>A	ENST00000303635.7	+	9	2763	c.2556C>A	c.(2554-2556)gtC>gtA	p.V852V	CAMTA1_ENST00000439411.2_Silent_p.V852V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGGTGGTCTCGGCCGCCT	0.667000			T	WWTR1	epitheliod hemangioendothelioma								19	33					1.96292e-10	2.41709e-10	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43323412	43323412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43323412G>A	ENST00000361428.2	-	4	1737	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCCAAGGGGCTTTGGTACG	0.478000													105	144					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460237	32460237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32460237C>T	ENST00000306901.3	+	10	1184	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182C|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392C	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CAAGCAGCGGCGCTGCAGCCT	0.687000													8	37					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099342	50099342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50099342G>T	ENST00000418929.2	+	4	1762	c.1750G>T	c.(1750-1752)Gga>Tga	p.G584*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	348	Pro-rich.						DNA binding	p.G584*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGCTCTCCAGGAGCCCCTGG	0.667000													4	83					1.23904e-05	1.39987e-05	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124870300	124870300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124870300C>T	ENST00000356219.3	-	18	2165	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	NCOR2_ENST00000404621.1_Silent_p.K669K|NCOR2_ENST00000397355.1_Silent_p.K670K|NCOR2_ENST00000429285.2_Silent_p.K669K|NCOR2_ENST00000405201.1_Silent_p.K670K|NCOR2_ENST00000404121.2_Silent_p.K240K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCATCTTCAGCTTGTGCTGCT	0.582000													56	79					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26628240	26628240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26628240G>T	ENST00000381340.3	-	45	6747	c.6331C>A	c.(6331-6333)Ctg>Atg	p.L2111M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2111					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATGGGCCAGAATATAGATA	0.393000													17	34					5.35267e-07	6.25286e-07	1	1	0
C5orf45	51149	broad.mit.edu	37	5	179264753	179264753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179264753C>A	ENST00000292586.6	-	7	760	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Missense_Mutation_p.S110I|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.A90S|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Missense_Mutation_p.A169S|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	224										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGATGTGGCTGTAACCTGC	0.587000													7	45					8.12818e-05	8.99451e-05	1	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87111268	87111268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87111268C>T	ENST00000285393.3	+	1	203	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	21					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGGCCTGGTTCGAGGATGCAA	0.532000													16	29					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20922431	20922431	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20922431C>T	ENST00000261497.4	-	4	689	c.486G>A	c.(484-486)ccG>ccA	p.P162P	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.P150P	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	162					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCTCCTTTTCGGGTTGTGCT	0.473000													42	67					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68847374	68847374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847374C>T	ENST00000261769.5	+	9	1487	c.1296C>T	c.(1294-1296)aaC>aaT	p.N432N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	432	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGTGAACAACGATGGCATTT	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				9	251					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47431075	47431075	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47431075G>T	ENST00000285039.7	-	20	2837	c.2538C>A	c.(2536-2538)acC>acA	p.T846T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	846	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACATGGCCCGGGTGAAGGCCT	0.582000													6	41					0.00116845	0.00124821	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42643159	42643159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42643159C>T	ENST00000282030.5	+	6	4583	c.4287C>T	c.(4285-4287)caC>caT	p.H1429H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1429						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTGGACCACGTGAACAAGA	0.557000									Schinzel-Giedion syndrome				10	12					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888151	7888151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7888151G>A	ENST00000332175.8	+	3	1281	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PTPRM_ENST00000580170.1_Missense_Mutation_p.A82T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A20T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	82	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGCAGAGAGCCCACCTGCT	0.458000													59	128					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888283	97888283	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888283C>A	ENST00000356526.2	+	1	740	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCTCTTCTCTGTCTGTTTA	0.428000													5	52					0.014758	0.0152625	1	1	0
RECK	8434	broad.mit.edu	37	9	36121545	36121545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36121545C>T	ENST00000377966.3	+	20	3120	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	852						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAATAAAAAGCCAATAACAGT	0.403000													24	54					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153886116	153886116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153886116G>A	ENST00000511601.1	+	9	1277	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	FHDC1_ENST00000260008.3_Silent_p.Q363Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	363	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCATGTTCAGAAGACTGCTA	0.303000													37	64					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701208	139701208	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139701208G>T	ENST00000338005.6	+	12	1313		c.e12-1		KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGGCCTACAGAGAGAAGTGG	0.617000													4	30					0.00024832	0.0002712	1	1	0
WBP11	51729	broad.mit.edu	37	12	14952649	14952649	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14952649C>T	ENST00000261167.2	-	4	343	c.110G>A	c.(109-111)cGc>cAc	p.R37H	WBP11_ENST00000537574.1_Missense_Mutation_p.R37H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	37	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCATCATGCGCTGTTTTTT	0.368000													12	16					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23468166	23468166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23468166C>T	ENST00000299088.6	-	2	496	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	C14orf93_ENST00000397379.3_Missense_Mutation_p.A23T|C14orf93_ENST00000397382.4_Missense_Mutation_p.A23T|C14orf93_ENST00000406429.2_Missense_Mutation_p.A23T|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Missense_Mutation_p.A23T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	23	Poly-Cys.					extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCTTACAGGCGCAGCAGCAG	0.587000													30	53					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83259100	83259100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83259100C>T	ENST00000296591.5	-	10	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	EDIL3_ENST00000380138.3_Missense_Mutation_p.G396D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	406	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTGTAGGAGCCAACAAACTG	0.378000													6	102					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36870003	36870003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36870003G>A	ENST00000480824.2	+	4	490	c.196G>A	c.(196-198)Gca>Aca	p.A66T	C6orf89_ENST00000373685.1_Missense_Mutation_p.A66T|C6orf89_ENST00000355190.3_Missense_Mutation_p.A73T|C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	66						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTAGGTTCTCGCAACCTTGGG	0.428000													19	42					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212254006	212254006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212254006G>T	ENST00000366991.4	+	13	1489	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	DTL_ENST00000542077.1_Missense_Mutation_p.R350I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	392					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CGCTTGAATAGAGGCTTAGAG	0.413000													42	203					1.62957e-23	2.15828e-23	1	1	0
URGCP	55665	broad.mit.edu	37	7	43917189	43917189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917189C>A	ENST00000336086.6	-	4	3980	c.1744G>T	c.(1744-1746)Gag>Tag	p.E582*	URGCP_ENST00000447717.3_Nonsense_Mutation_p.E582*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E582*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E616*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.E582*|URGCP_ENST00000453200.1_Nonsense_Mutation_p.E625*|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	625					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTCAGCCTCATAAAACTGT	0.637000													4	73					3.59834e-05	4.01776e-05	1	1	0
WDFY1	57590	broad.mit.edu	37	2	224759041	224759041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224759041C>T	ENST00000233055.4	-	8	843	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	247						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGTAGCACAGCGACTGCACCT	0.507000													9	27					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97493735	97493735	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97493735C>A	ENST00000175506.4	-	5	851	c.323G>T	c.(322-324)gGa>gTa	p.G108V	ASNS_ENST00000422745.1_Missense_Mutation_p.G87V|ASNS_ENST00000394309.3_Missense_Mutation_p.G108V|ASNS_ENST00000444334.1_Missense_Mutation_p.G87V|ASNS_ENST00000437628.1_Missense_Mutation_p.G25V|ASNS_ENST00000394308.3_Missense_Mutation_p.G108V|ASNS_ENST00000455086.1_Missense_Mutation_p.G25V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	108	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCAATTCCTCCTTTGTCATA	0.368000													4	76					0.000602214	0.000649039	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232650749	232650749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232650749C>T	ENST00000366630.1	-	2	695	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V113I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	113					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTGCAGGACAGAAGTGATG	0.502000													39	101					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220121	50220121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50220121C>T	ENST00000002829.3	+	9	1292	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SEMA3F_ENST00000434342.1_Missense_Mutation_p.R239C|SEMA3F_ENST00000413852.1_Missense_Mutation_p.R171C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	270	Sema.			Missing (in Ref. 2; AAB18276).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGTGCGGAGCGCAATGATGA	0.612000													28	38					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461598	138461598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138461598C>A	ENST00000477593.1	-	4	496	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K141N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	141					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTCAGGATCCTTCAAGGAAT	0.323000													4	48					0.000602214	0.000649039	1	1	0
TTC40	54777	broad.mit.edu	37	10	134743224	134743224	+	Silent	SNP	C	C	T	rs144339867	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134743224C>T	ENST00000368586.5	-	9	1051	c.951G>A	c.(949-951)aaG>aaA	p.K317K	TTC40_ENST00000368582.2_Silent_p.K317K|TTC40_ENST00000368585.3_Silent_p.K317K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTTCCATCTTCTTCAGGTCTG	0.478000													4	62					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21751923	21751923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21751923C>A	ENST00000382254.1	-	15	3394	c.2308G>T	c.(2308-2310)Gac>Tac	p.D770Y	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D730Y|CDH12_ENST00000504376.2_Missense_Mutation_p.D770Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTCCCCAGTCTGTCAGATAG	0.507000										HNSCC(59;0.17)			41	49					1.48646e-12	1.87272e-12	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50209622	50209622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209622C>T	ENST00000392518.4	+	12	1667	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	CPT1C_ENST00000323446.5_Missense_Mutation_p.S432L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S432L|CPT1C_ENST00000405931.2_Missense_Mutation_p.S421L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S432L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	432					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCGGCAGCGTCGTTGGATGCC	0.672000													6	5					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544702	27544702	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544702G>C	ENST00000356183.4	-	5	774	c.759C>G	c.(757-759)agC>agG	p.S253R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	253						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCGTATTTGCTCCTCCTGC	0.468000													3	53					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78184425	78184425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78184425C>A	ENST00000555761.1	-	13	1725	c.1697G>T	c.(1696-1698)aGg>aTg	p.R566M	SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_3'UTR|SNW1_ENST00000261531.7_3'UTR			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGGAGAGACCTGTGCCTATT	0.468000													11	127					9.31168e-06	1.06029e-05	1	1	0
SLC39A14	23516	broad.mit.edu	37	8	22273680	22273680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22273680G>A	ENST00000359741.5	+	7	1209	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	SLC39A14_ENST00000381237.1_Missense_Mutation_p.G345D|SLC39A14_ENST00000289952.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000240095.6_Missense_Mutation_p.G345D	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	345						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGAGCGACGGCCTCCATAAT	0.557000													29	52					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794832	2794832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794832G>T	ENST00000307741.6	+	3	503	c.300G>T	c.(298-300)gaG>gaT	p.E100D		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	100					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACAGAGGCCGACAAGA	0.587000													41	88					5.04308e-16	6.4936e-16	1	1	0
PLEK	5341	broad.mit.edu	37	2	68609737	68609737	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68609737C>T	ENST00000234313.7	+	4	623	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	148	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGAGAAGGACAAGAAGATTT	0.413000													36	82					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115531819	115531819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115531819T>C	ENST00000361048.1	+	8	970	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.Y209H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.Y127H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.Y29H	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGAGAATCATTATCTTACTCC	0.363000													5	103					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506939	98506939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98506939G>A	ENST00000265261.6	+	7	559	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.R164Q|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.R164Q	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	164					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACAACCTTCCGACTTTTTTAT	0.383000													15	32					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16614097	16614097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16614097G>T	ENST00000221671.3	+	3	1137	c.981G>T	c.(979-981)aaG>aaT	p.K327N	C19orf44_ENST00000594035.1_Missense_Mutation_p.K327N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	327										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGTCTTTAAAGATGGGGCATG	0.552000													11	67					4.68919e-08	5.58064e-08	1	1	0
MAML1	9794	broad.mit.edu	37	5	179192400	179192400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179192400A>G	ENST00000292599.3	+	2	652	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	130					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATGGCTACGGGGACCTC	0.522000													3	55					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44840821	44840821	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44840821T>A	ENST00000354340.4	-	3	226	c.175A>T	c.(175-177)Aag>Tag	p.K59*	CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.K64*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.K82*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.K65*	NM_013380.3	NP_037512.3			zinc finger protein 112																		ATCAAAAGCTTTTCTTCTCTC	0.463000													34	50					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445108	85445108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445108G>A	ENST00000316356.4	-	7	1828	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	SYTL2_ENST00000527523.1_Missense_Mutation_p.H373Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.H421Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.H421Y			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	421					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAATGAGAATGCAGCCCATTA	0.378000													59	76					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000545805.1_Silent_p.A90A			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423000													49	85					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172482141	172482141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482141G>A	ENST00000417960.1	+	12	1523	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ECT2_ENST00000441497.2_Missense_Mutation_p.R350H|ECT2_ENST00000392692.3_Missense_Mutation_p.R381H|ECT2_ENST00000232458.5_Missense_Mutation_p.R350H|ECT2_ENST00000540509.1_Missense_Mutation_p.R381H|ECT2_ENST00000427830.1_Missense_Mutation_p.R350H	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	350					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CGCAAACGACGTCGTTTAAAA	0.453000													28	36					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	418714	418714	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:418714G>T	ENST00000352684.2	+	9	1203		c.e9-1		FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000382824.1_Splice_Site|FBXO25_ENST00000276326.5_Splice_Site	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25							nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CCTCCCCACAGGACTCAGGAC	0.617000													4	12					0.014758	0.0152625	1	1	0
GRM5	2915	broad.mit.edu	37	11	88242605	88242605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242605G>A	ENST00000418177.2	-	10	3161	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	GRM5_ENST00000305447.4_Missense_Mutation_p.R932C|GRM5_ENST00000305432.5_Missense_Mutation_p.R900C|GRM5_ENST00000455756.2_Missense_Mutation_p.R900C|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	932					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGGACAGGCGCTGCCACAGG	0.597000													19	22					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526599	16526599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16526599C>T	ENST00000311331.7	-	6	1692	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAATGCTTTCCCACATTCATT	0.383000													6	105					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57532252	57532252	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57532252T>G	ENST00000243077.3	+	2	544	c.78T>G	c.(76-78)acT>acG	p.T26T	LRP1_ENST00000553277.1_Silent_p.T26T|LRP1_ENST00000554174.1_Silent_p.T26T|LRP1_ENST00000338962.4_Silent_p.T26T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	26	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCTAAGACTTGCAGCCCCA	0.532000													8	109					0	0	1	0	0
SCNN1B	0	broad.mit.edu	37	16	23379247	23379247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23379247G>A	ENST00000343070.2	+	5	1023	c.847G>A	c.(847-849)Gca>Aca	p.A283T	SCNN1B_ENST00000568085.1_Missense_Mutation_p.A283T|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A256T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A328T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	283					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGAAGGCACTTCCTTC	0.507000													46	84					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243109	67243109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67243109C>T	ENST00000282670.2	+	5	640	c.512C>T	c.(511-513)gCa>gTa	p.A171V		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	171										large_intestine(2)|lung(10)|skin(1)	13						TTCGCTCTTGCAAATGTCTAT	0.368000													11	96					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32826033	32826033	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32826033T>C	ENST00000380250.3	+	50	7685	c.7189T>C	c.(7189-7191)Ttg>Ctg	p.L2397L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAGAGAAGTTGGTACATGT	0.403000													10	97					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450383	35450383	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35450383G>T	ENST00000404801.1	-	4	762	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	ZNF792_ENST00000605484.1_Missense_Mutation_p.L59M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGGGGCACAGAGTTGCCTCG	0.507000													9	86					0.000442599	0.00048047	1	1	0
SYTL1	84958	broad.mit.edu	37	1	27674031	27674031	+	Missense_Mutation	SNP	C	C	T	rs150662670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27674031C>T	ENST00000543823.1	+	2	773	c.311C>T	c.(310-312)gCg>gTg	p.A104V	SYTL1_ENST00000318074.5_Missense_Mutation_p.A104V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCCGAGCGTCTATGCGC	0.632000													23	30					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420564	56420564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56420564G>T	ENST00000407595.2	+	2	1731	c.1229G>T	c.(1228-1230)aGt>aTt	p.S410I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	410										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGTCTACAGTGGCATGAAC	0.592000													4	8					0.184627	0.186383	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29607774	29607774	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29607774C>T	ENST00000318184.5	-	21	2529	c.2530_splice	c.e21+1	p.G844_splice	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	844					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTTATTACCTGGCCAAGAT	0.373000													7	14					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6364870	6364870	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6364870C>A	ENST00000262483.8	-	18	2400	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.W735C	NM_031220.3	NP_112497.2																					CCAAGTCCTGCCAGTGCCTGG	0.632000													41	61					6.1244e-12	7.67368e-12	1	1	0
ALOX5	240	broad.mit.edu	37	10	45878107	45878107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45878107G>A	ENST00000374391.2	+	2	380	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ALOX5_ENST00000542434.1_Silent_p.E109E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCGATGTCGAGGTTGTCCTGA	0.587000													4	9					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19416805	19416805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19416805G>A	ENST00000247001.5	-	4	738	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.R131W	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	131					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGCCTGTCCGCCTGCTGATG	0.692000													11	14					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85693047	85693047	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85693047C>A	ENST00000526033.1	-	15	1812		c.e15-1		PICALM_ENST00000528398.1_Splice_Site|PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000532317.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCATCAAAGCCTTAAAGTTAC	0.408000			T	"""MLLT10, MLL"""	"""TALL, AML, """								9	74					1.76689e-08	2.11513e-08	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577233	33577233	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33577233A>G	ENST00000504830.1	-	19	3233	c.2898T>C	c.(2896-2898)atT>atC	p.I966I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I881I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGACACTGCGAATCCGCACTC	0.498000										HNSCC(64;0.19)			31	50					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124817694	124817694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124817694C>A	ENST00000356219.3	-	43	6913	c.6758G>T	c.(6757-6759)gGg>gTg	p.G2253V	NCOR2_ENST00000404621.1_Missense_Mutation_p.G2236V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2237V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2236V|NCOR2_ENST00000405201.1_Missense_Mutation_p.G2246V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1807V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2257					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTCTGTTCCCCATCCCGGTA	0.652000													7	40					5.18039e-06	5.91835e-06	1	1	0
FNIP1	96459	broad.mit.edu	37	5	131039847	131039847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131039847C>A	ENST00000307968.7	-	9	942	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	FNIP1_ENST00000307954.8_Missense_Mutation_p.D298Y|FNIP1_ENST00000511848.1_Missense_Mutation_p.D343Y|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.D343Y	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATTTTCATCTTCATCTTTG	0.343000													21	47					5.35356e-11	6.64197e-11	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108110667	108110667	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108110667G>T	ENST00000374720.3	+	5	682	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SLC44A1_ENST00000374723.1_Missense_Mutation_p.K145N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.K145N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	145						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAACCTAAAGCCTTCTGAAT	0.363000													34	51					3.66082e-28	4.8918e-28	1	1	0
ASPH	444	broad.mit.edu	37	8	62563619	62563619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62563619G>A	ENST00000541428.1	-	5	553	c.393C>T	c.(391-393)caC>caT	p.H131H	ASPH_ENST00000517903.1_Silent_p.H146H|ASPH_ENST00000379454.4_Silent_p.H160H|ASPH_ENST00000445642.3_Silent_p.H146H|ASPH_ENST00000518068.1_Silent_p.H160H|ASPH_ENST00000522835.1_Silent_p.H146H|ASPH_ENST00000356457.5_Silent_p.H160H|ASPH_ENST00000517847.2_Silent_p.H146H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	160	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATGTTCTGCGTGTACCATTT	0.313000													30	56					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186072761	186072761	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186072761T>G	ENST00000271588.4	+	69	10960	c.10731T>G	c.(10729-10731)acT>acG	p.T3577T	HMCN1_ENST00000367492.2_Silent_p.T3577T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3577	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGTGCAAACTCTAGGAGGAG	0.443000													7	49					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59064151	59064151	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064151T>G	ENST00000507116.1	-	1	320	c.185A>C	c.(184-186)aAt>aCt	p.N62T	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N62T	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCTGGGGGAATTTCTCGGAGA	0.527000													52	66					0	0	1	0	0
FXR1	0	broad.mit.edu	37	3	180685891	180685891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180685891C>T	ENST00000357559.4	+	14	1635	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	FXR1_ENST00000480918.1_Silent_p.D404D|FXR1_ENST00000305586.7_Silent_p.D332D|FXR1_ENST00000468861.1_Silent_p.D332D|FXR1_ENST00000491062.1_Silent_p.D368D|FXR1_ENST00000445140.2_Silent_p.D417D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	417					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGCGTAAAGACGAGCTGAGTG	0.463000													31	40					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21367594	21367594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367594G>A	ENST00000377191.3	+	29	2832	c.2737G>A	c.(2737-2739)Gct>Act	p.A913T	XRN2_ENST00000539513.1_Missense_Mutation_p.A859T|XRN2_ENST00000430571.2_Missense_Mutation_p.A837T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	913					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAGATGCTAGCTGGGCCTGG	0.512000													4	67					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60906281	60906281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60906281C>A	ENST00000301765.5	-	2	253	c.21G>T	c.(19-21)aaG>aaT	p.K7N		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	7					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCTGCAGGGTCTTATCCTTCA	0.572000													4	83					0.000602214	0.000649039	1	1	0
PCDHGA1	0	broad.mit.edu	37	5	140712311	140712311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140712311C>T	ENST00000517417.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S687L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.687000													16	37					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597000													6	15					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149302	73149302	+	Silent	SNP	G	G	A	rs113342288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73149302G>A	ENST00000286657.4	-	22	3205	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1057					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGGTGGCAGGGTGCTACTG	0.463000													7	116					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111366570	111366570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111366570C>T	ENST00000333219.7	+	1	946	c.74C>T	c.(73-75)tCc>tTc	p.S25F	ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCATCGAGTCCCTGCCTTTC	0.622000													4	10					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52729856	52729856	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52729856C>T	ENST00000334635.5	+	3	297	c.117C>T	c.(115-117)ggC>ggT	p.G39G	DCUN1D4_ENST00000381441.3_Silent_p.G39G|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000451288.2_Silent_p.G83G	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	39										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAGACATTGGCCAAGACGATC	0.323000													19	35					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165712G>T	ENST00000282466.3	-	4	2056	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463000													22	32					1.96292e-10	2.41709e-10	1	1	0
LHX4	89884	broad.mit.edu	37	1	180217458	180217458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180217458G>A	ENST00000263726.2	+	2	359	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	39	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCACATCCTGGACAAGTTCAT	0.597000													16	19					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246095	46246095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246095G>T	ENST00000334344.6	+	15	4361	c.4189G>T	c.(4189-4191)Ggg>Tgg	p.G1397W	ARID2_ENST00000444670.1_Missense_Mutation_p.G1007W|ARID2_ENST00000457135.1_Missense_Mutation_p.G5W|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1248W	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAACCACAAGGGACTTTAGA	0.368000			"""N, S, F"""		hepatocellular carcinoma								25	45					3.28513e-13	4.1605e-13	1	1	0
IL10RB	3588	broad.mit.edu	37	21	34660531	34660531	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34660531T>G	ENST00000290200.2	+	6	877	c.769T>G	c.(769-771)Tcc>Gcc	p.S257A		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTACGCCTTCTCCCCTAGGAA	0.512000													32	48					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71660295	71660295	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71660295A>C	ENST00000409544.1	+	27	6383	c.5752_splice	c.e27-1	p.E1918_splice	ZNF638_ENST00000409407.1_Splice_Site_p.E858_splice|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Splice_Site_p.E1918_splice	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1918					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATCCTCTAGAATTAGACTTT	0.363000													5	172					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607237	110607237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110607237C>T	ENST00000369792.4	-	2	653	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGTCTGTGCGCAGGGCCAG	0.592000													8	33					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26887149	26887149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26887149T>C	ENST00000308360.7	-	7	1112	c.737A>G	c.(736-738)gAc>gGc	p.D246G	PIGS_ENST00000543734.1_Missense_Mutation_p.D185G|PIGS_ENST00000395346.2_Missense_Mutation_p.D238G|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	246					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCCTCAATGTCCCAGTAGAC	0.552000													17	28					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113184616	113184616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113184616G>A	ENST00000295872.4	-	11	1430	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	391					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACTTCTTTACGTAGCTGGATC	0.378000													20	40					0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158696048	158696048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158696048G>A	ENST00000296786.6	+	2	451	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGAACGCCAAAAGTTA	0.363000													29	55					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125894979	125894979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125894979C>T	ENST00000409134.3	-	11	1180	c.961G>A	c.(961-963)Gct>Act	p.A321T	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.A348T|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.A321T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	321					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCCACAGCAGCGAAGAGAGCT	0.478000													14	19					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44804807	44804807	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44804807C>T	ENST00000372257.2	-	3	580	c.399G>A	c.(397-399)gcG>gcA	p.A133A	ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	133						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCATTGCCGCCATGGATG	0.547000													17	191					0	0	1	0	0
GPR61	0	broad.mit.edu	37	1	110086836	110086836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086836C>T	ENST00000527748.1	+	2	1875	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	398						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGGTTTCCCGACCCCTACC	0.597000													13	30					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227954604	227954604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227954604C>T	ENST00000396625.3	-	21	1646	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R480K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	480	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTGGGCCTCTTCCTCCTGG	0.488000													18	32					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355248	56355248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56355248G>A	ENST00000340482.3	-	6	1416	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	MPO_ENST00000225275.3_Silent_p.L382L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642000													16	35					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676131	25676131	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25676131C>T	ENST00000382051.3	+	12	1388	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	SLC34A2_ENST00000503434.1_Silent_p.I445I|SLC34A2_ENST00000504570.1_Silent_p.I445I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	446					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCCAGGAATCGGCGTGATAA	0.567000			T	ROS1	NSCLC								39	61					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88576971	88576971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88576971C>T	ENST00000361671.5	+	6	525	c.392C>T	c.(391-393)aCg>aTg	p.T131M	NAA35_ENST00000376040.1_Missense_Mutation_p.T131M	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	131					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T131M(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAGTATTTACGTGCCTTTAC	0.363000													16	44					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169641932	169641932	+	Silent	SNP	C	C	T	rs145867791	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169641932C>T	ENST00000366787.3	-	6	1065	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	272					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTTCCCAGCTCCTCGCACG	0.657000													34	34					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7842843	7842843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7842843C>T	ENST00000380262.3	+	8	1865	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q314*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	314					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGAAAGGCAAGCTCTGAC	0.577000													41	116					0	0	1	0	0
NDUFA7	4701	broad.mit.edu	37	19	8376449	8376449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8376449C>T	ENST00000301457.2	-	4	319	c.282G>A	c.(280-282)gcG>gcA	p.A94A	NDUFA7_ENST00000598884.1_Silent_p.A94A	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	94					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.A94A(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGGAGTCACCGCCTTCTTCT	0.572000													5	94					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16245447	16245447	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16245447A>T	ENST00000375759.3	+	7	1626	c.1422A>T	c.(1420-1422)ggA>ggT	p.G474G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	474	RRM 3.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTAAATGGAGTTCCTCAGT	0.353000													5	42					0	0	1	0	0
PRICKLE1	0	broad.mit.edu	37	12	42854319	42854319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42854319C>A	ENST00000455697.1	-	8	2073	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K596N|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K596N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K596N|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K596N|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	596					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTAGACTCTTTAAGGACT	0.458000													64	92					3.19559e-11	3.97421e-11	1	1	0
GCAT	23464	broad.mit.edu	37	22	38211691	38211691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38211691G>A	ENST00000323205.6	+	7	977	c.914G>A	c.(913-915)gGg>gAg	p.G305E	GCAT_ENST00000248924.6_Missense_Mutation_p.G279E	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	279					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACAGGGCCTGGGCCCCTGGTG	0.657000													33	76					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59115389	59115389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59115389G>A	ENST00000589222.1	+	18	1970	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCAS3_ENST00000588462.1_Silent_p.S649S|BCAS3_ENST00000588874.1_Silent_p.S405S|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.S649S|BCAS3_ENST00000407086.3_Silent_p.S634S|BCAS3_ENST00000585744.1_Silent_p.S420S|BCAS3_ENST00000408905.3_Silent_p.S634S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	649						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATGACATCGCCTCGAGCCA	0.438000													26	41					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102894605	102894605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102894605A>G	ENST00000230792.2	-	3	867	c.771T>C	c.(769-771)ctT>ctC	p.L257L	NUDT12_ENST00000507423.1_Silent_p.L239L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	257						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCAATTGCAGAAGGGCTGGCA	0.378000													8	29					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186045576	186045576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186045576G>T	ENST00000271588.4	+	54	8536	c.8307G>T	c.(8305-8307)caG>caT	p.Q2769H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2769H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2769	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGTTTTCAGAAACTCTGGG	0.383000													11	28					2.80697e-09	3.39963e-09	1	1	0
APOBR	55911	broad.mit.edu	37	16	28507307	28507307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28507307C>T	ENST00000564831.1	+	2	978	c.945C>T	c.(943-945)ggC>ggT	p.G315G	APOBR_ENST00000328423.5_Silent_p.G315G|APOBR_ENST00000431282.1_Silent_p.G315G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	315	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGCCTCAGGCGGGGAGGAGG	0.672000													16	10					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815201	82815201	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82815201T>C	ENST00000265077.3	+	7	1641	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	VCAN_ENST00000512590.2_Missense_Mutation_p.L311P|VCAN_ENST00000342785.4_Missense_Mutation_p.L359P|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	359	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGAGTATCCTCGCAGAAACT	0.368000													4	146					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605800	77605800	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77605800G>A	ENST00000319374.4	-	2	484	c.282C>T	c.(280-282)acC>acT	p.T94T	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	94						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGCAGAAGTGGGTGCTAGGTG	0.622000													4	4					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467331	133467331	+	Missense_Mutation	SNP	G	G	A	rs146477698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133467331G>A	ENST00000402696.3	+	2	604	c.119G>A	c.(118-120)aGt>aAt	p.S40N	TF_ENST00000264998.3_Intron|TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	40	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGTGCCAGAGTTTCCGCGAC	0.542000													14	28					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71129352	71129352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71129352C>T	ENST00000448642.2	+	12	1341	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	HK1_ENST00000359426.6_Missense_Mutation_p.R283W|HK1_ENST00000404387.2_Missense_Mutation_p.R287W|HK1_ENST00000298649.3_Missense_Mutation_p.R282W|HK1_ENST00000360289.2_Missense_Mutation_p.R271W|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	283	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGATAGACCGGGGATCCCT	0.478000													8	23					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216166438G>A	ENST00000366943.2	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000307340.3_Silent_p.G2243G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2243G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGCACGCCTTCGGGTA	0.507000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	162					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913879	52913879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52913879G>T	ENST00000252242.4	-	1	592	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	68	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCCCCCAGGTTGTAGAGG	0.647000													18	38					1.45105e-14	1.85325e-14	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509841	106509841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106509841C>T	ENST00000359195.3	+	2	2145	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A612V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A612V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	612					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAATTGTTGGCCAGAAGGGAA	0.428000													54	110					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614139	184614139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184614139C>T	ENST00000334690.6	+	20	2278	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	TRAPPC11_ENST00000357207.4_Silent_p.G692G|TRAPPC11_ENST00000512476.1_Silent_p.G298G	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	692																	TTGCTCTGGGCAATGAGACGG	0.448000													29	60					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57258700	57258700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57258700G>A	ENST00000278426.3	-	11	1545	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A397V	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	397					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGTCACCTGGCATCTCCGAG	0.552000													10	23					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15532344	15532344	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532344T>C	ENST00000455584.2	-	6	1323	c.1280A>G	c.(1279-1281)cAc>cGc	p.H427R	TRIM16_ENST00000579219.1_Missense_Mutation_p.T124A|TRIM16_ENST00000416464.2_Missense_Mutation_p.H297R|TRIM16_ENST00000336708.7_Missense_Mutation_p.H427R|TRIM16_ENST00000578237.1_Missense_Mutation_p.H427R|TRIM16_ENST00000577886.1_Missense_Mutation_p.H211R																							ATAGTACCTGTGCAGGTACAG	0.597000													12	13					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131760483	131760483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131760483C>T	ENST00000372577.2	+	31	3426	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTTCTTGACGTGCTTGATG	0.443000													80	144					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483461	26483461	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26483461G>T	ENST00000295589.3	-	5	1280	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGACGCAGGAGGAGGTGTAGG	0.632000													35	67					2.42023e-17	3.13592e-17	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120776145	120776145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776145C>T	ENST00000527524.2	+	13	1706	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIK4_ENST00000438375.2_Silent_p.Y473Y			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	473					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGGCGTGTACGGCGTTCCCG	0.607000													40	113					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155642405	155642405	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155642405A>C	ENST00000368340.5	-	6	1051	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	YY1AP1_ENST00000368330.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F243V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F177V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F315V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F43V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F177V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F166V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F166V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F177V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGTGTGCTGAAGTCTTCAATC	0.473000													20	23					0	0	1	0	0
TMEM60	85025	broad.mit.edu	37	7	77423538	77423538	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77423538G>A	ENST00000257663.3	-	2	529	c.153C>T	c.(151-153)gtC>gtT	p.V51V		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	51						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAATCAGCAGGACAAGAAGGA	0.418000													22	57					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413000													46	57					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256624	98256624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98256624C>T	ENST00000265634.3	+	4	1201	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	346	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCATCAAGCCCGGGGGCGT	0.677000													28	18					0	0	1	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859657	31859657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31859657C>T	ENST00000334055.3	-	1	98	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	4						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACAGCCGTAGCCATAGCACAT	0.567000													9	137					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126330	32126330	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32126330C>T	ENST00000265070.6	-	4	1200	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	295					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A295A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478000													52	67					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40610438	40610438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40610438T>C	ENST00000342449.3	-	22	2621	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	BRWD1_ENST00000333229.2_Missense_Mutation_p.D848G|BRWD1_ENST00000380800.3_Missense_Mutation_p.D848G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTTTTTCTGTCACTTCTCCA	0.383000													29	39					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619166	20619166	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20619166A>G	ENST00000504154.1	+	36	4493	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	SLIT2_ENST00000273739.5_Missense_Mutation_p.N1427S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1410S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1406S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1414					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATCTGTTTAACCCATGCCAG	0.552000													16	12					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032629	99032629	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99032629C>A	ENST00000292478.4	-	2	487	c.237G>T	c.(235-237)caG>caT	p.Q79H	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCTTCTTCCTGCGTGGCCG	0.607000													8	82					1.12685e-05	1.27857e-05	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17771432	17771432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17771432C>T	ENST00000259711.6	-	38	4599	c.4494G>A	c.(4492-4494)caG>caA	p.Q1498Q	KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTATGTGCCTGAGGTGGAG	0.453000													5	10					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074889	90074889	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90074889A>C	ENST00000405460.2	+	64	13153	c.13057A>C	c.(13057-13059)Att>Ctt	p.I4353L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTCTAACAATTACAAAGGT	0.423000													15	18					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1397954	1397954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1397954C>T	ENST00000324385.5	+	32	3348	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCACTGGTCCGCAGCCAGAG	0.627000													9	117					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574469	179574469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179574469G>A	ENST00000589042.1	-	99	28801	c.28577C>T	c.(28576-28578)gCc>gTc	p.A9526V	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8282V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9209V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9209							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCAGGCAACAGTTAT	0.403000													28	57					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68837924	68837924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68837924C>T	ENST00000294309.3	+	9	957	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	286					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468000													25	57					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95907642	95907642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95907642A>G	ENST00000323666.5	+	11	1628	c.1399A>G	c.(1399-1401)Aca>Gca	p.T467A	METAP2_ENST00000546753.1_Missense_Mutation_p.T444A|METAP2_ENST00000261220.9_Missense_Mutation_p.T444A|METAP2_ENST00000551840.1_Missense_Mutation_p.T466A|METAP2_ENST00000550777.1_Missense_Mutation_p.T431A	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	467					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GTTGCGTCCAACATGTAAAGA	0.393000													8	80					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090775	147090775	+	Missense_Mutation	SNP	C	C	T	rs143556015	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147090775C>T	ENST00000234739.3	+	8	1554	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	272	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGCACCCCCACGTCCCCTGGA	0.612000			T	"""IGH@, IGL@"""	B-ALL								11	34					0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3504690G>A	ENST00000382093.5	-	3	3134	c.297C>T	c.(295-297)ttC>ttT	p.F99F	ADI1_ENST00000327435.6_Silent_p.F105F			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537000													15	25					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790846	110790846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110790846G>T	ENST00000327908.3	+	4	1156	c.392G>T	c.(391-393)aGc>aTc	p.S131I	LRIT3_ENST00000409621.2_Missense_Mutation_p.S131I|LRIT3_ENST00000594814.1_Missense_Mutation_p.S314I|LRIT3_ENST00000379920.3_Missense_Mutation_p.S269I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	269						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCCATAATGAGCTTGACAGGC	0.433000													31	77					2.46105e-21	3.23713e-21	1	1	0
POTEF	728378	broad.mit.edu	37	2	130832316	130832316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130832316C>T	ENST00000357462.5	-	15	2822	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEF_ENST00000409914.2_Missense_Mutation_p.R910H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	910	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTGATGTCACGCACGATTTC	0.592000													20	28					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324045	172324045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172324045C>T	ENST00000393784.3	+	3	262	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ERGIC1_ENST00000523291.1_Silent_p.L41L|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	41					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTCTTCCTCTCGGAGCTCA	0.517000													9	57					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97668832	97668832	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97668832T>G	ENST00000333396.6	-	7	1498	c.916A>C	c.(916-918)Aga>Cga	p.R306R	MINA_ENST00000360258.4_Silent_p.R305R|MINA_ENST00000394198.2_Silent_p.R306R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	306					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTAATCGTCTTGTAGCAACA	0.502000													5	64					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814691	55814691	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55814691A>G	ENST00000309383.1	+	11	1318	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	BRSK1_ENST00000590333.1_Silent_p.E363E|BRSK1_ENST00000326848.7_Silent_p.E42E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	347	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGAACCAAGAAAAGATGATAT	0.552000													5	59					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562000													10	21					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172965582	172965582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172965582C>T	ENST00000234198.4	-	3	1037	c.676G>A	c.(676-678)Gct>Act	p.A226T	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGAGAAGCGCTGGCCCCA	0.637000													9	12					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352051	120352051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120352051G>T	ENST00000283871.5	-	13	1590	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	377					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCTTCTCAAAGCAGTCAGCAT	0.562000													20	29					8.28177e-16	1.06505e-15	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58121016	58121016	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121016T>G	ENST00000184956.6	-	20	3470	c.3454A>C	c.(3454-3456)Agg>Cgg	p.R1152R	HEATR6_ENST00000585976.1_Silent_p.R1040R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1152							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGATGGCCCTTCTGGCTGTG	0.527000													17	57					0	0	1	0	0
PCDHB14	0	broad.mit.edu	37	5	140603415	140603415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140603415C>A	ENST00000239449.4	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAACCCTTTACAGTTT	0.428000													11	139					7.03913e-09	8.47891e-09	1	1	0
PACRG	135138	broad.mit.edu	37	6	163510401	163510401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:163510401C>T	ENST00000337019.3	+	5	798	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q192*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q192*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	192										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TTATTACCGTCAAATCCTCCC	0.478000													26	32					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103268766	103268766	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103268766C>A	ENST00000376052.3	+	4	427	c.411C>A	c.(409-411)atC>atA	p.I137I	TPP2_ENST00000376065.4_Silent_p.I137I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	137					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAAAAAATCTGGGACCCTG	0.423000													12	52					1.3612e-06	1.57881e-06	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176517466	176517466	+	Missense_Mutation	SNP	G	G	A	rs150191035		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176517466G>A	ENST00000292408.4	+	3	412	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	FGFR4_ENST00000393648.2_Missense_Mutation_p.C56Y|FGFR4_ENST00000502906.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000393637.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000292410.3_Missense_Mutation_p.C56Y|FGFR4_ENST00000507708.1_3'UTR	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	56	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTGCGTCTGTGCTGTGGGCGG	0.682000										TSP Lung(9;0.080)			20	41					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19056286	19056286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19056286C>T	ENST00000421369.3	+	10	1646	c.1088C>T	c.(1087-1089)aCa>aTa	p.T363I	TMC7_ENST00000304381.5_Missense_Mutation_p.T473I|TMC7_ENST00000569532.1_Missense_Mutation_p.T473I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	473						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATGATGACACATGTGACCTT	0.562000													55	66					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57787351	57787351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57787351A>G	ENST00000379661.3	+	12	1489	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	366	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCGAGGATGACCGGGACGAG	0.667000													4	51					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768928	88768928	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768928C>A	ENST00000444431.1	+	0	3528				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GAGCCAGATCCTGGCCAGCCT	0.557000													9	136					1.12685e-05	1.27857e-05	1	1	0
SERINC3	10955	broad.mit.edu	37	20	43141617	43141617	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43141617C>A	ENST00000342374.4	-	3	377	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	SERINC3_ENST00000541235.1_Missense_Mutation_p.G19W|SERINC3_ENST00000255175.1_Missense_Mutation_p.G74W	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	74						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTAAATCCCCCTTCACAAAAT	0.393000													21	49					1.96292e-10	2.41709e-10	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228524811	228524811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228524811G>A	ENST00000570156.2	+	76	19589	c.19515G>A	c.(19513-19515)tcG>tcA	p.S6505S	OBSCN_ENST00000366707.4_Silent_p.S3182S|OBSCN_ENST00000366709.4_Silent_p.S2667S|OBSCN_ENST00000422127.1_Silent_p.S5548S|OBSCN_ENST00000284548.11_Silent_p.S5548S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTATCGGCCAAGATCA	0.642000													17	31					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136617	64136617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64136617T>C	ENST00000395254.3	+	2	945	c.665T>C	c.(664-666)gTg>gCg	p.V222A	ZNF365_ENST00000395255.3_Missense_Mutation_p.V222A|ZNF365_ENST00000410046.3_Missense_Mutation_p.V222A|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACAGACAGGTGGACGTGGCC	0.512000													40	63					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448591	110448591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110448591G>A	ENST00000378402.5	+	30	3634	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1177	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTATCTGGATTTGGCTTT	0.318000										HNSCC(38;0.096)			18	36					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1855461	1855461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1855461C>T	ENST00000399161.2	-	19	3473	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	MYT1L_ENST00000428368.2_Missense_Mutation_p.G907D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	909					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCACAGCCAGGCGTGGG	0.383000													8	82					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332912	123332912	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332912G>T	ENST00000223023.4	-	9	1168	c.836C>A	c.(835-837)cCt>cAt	p.P279H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	279	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGGTGGAGGTGGTGGTGC	0.473000													8	133					0.00448238	0.00472561	1	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37107390	37107390	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37107390T>G	ENST00000421307.1	-	24	2032	c.1610A>C	c.(1609-1611)gAt>gCt	p.D537A	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D240A|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D537A|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D240A|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D319A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D216A	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	537					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGACTGACATCACCATTGGG	0.512000													27	53					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072572	197072572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197072572C>A	ENST00000367409.4	-	18	6065	c.5809G>T	c.(5809-5811)Gga>Tga	p.G1937*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1937					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTCCTTCCTGCAGTCCAT	0.428000													15	219					1.67942e-08	2.01326e-08	1	1	0
AGO1	26523	broad.mit.edu	37	1	36367872	36367872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36367872T>C	ENST00000373204.4	+	11	1544	c.1331T>C	c.(1330-1332)aTt>aCt	p.I444T	AGO1_ENST00000373206.1_Missense_Mutation_p.I369T	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TACAATGGGATTGAGATCAAA	0.577000													32	50					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811770	140811770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811770G>T	ENST00000509479.2	-	2	1676	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	MAML3_ENST00000327122.5_Missense_Mutation_p.L118I	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	274					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCTTGTTTGAGGTCTTTGCTC	0.423000													48	96					1.67753e-36	2.25802e-36	1	1	0
RBM44	375316	broad.mit.edu	37	2	238725905	238725905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238725905C>T	ENST00000316997.4	+	3	478	c.346C>T	c.(346-348)Cct>Tct	p.P116S	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.P116S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	115							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATATTCTATACCTTATTCAGA	0.323000													11	22					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3808550	3808550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3808550C>A	ENST00000225538.3	-	2	523	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	83					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CATCCCAGACCTGGGGGCCGA	0.622000													20	26					2.37509e-13	3.01126e-13	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120801913	120801913	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120801913C>T	ENST00000369144.3	-	19	3246	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1006H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1040	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCATCCCACGTCTTGGTCC	0.597000													62	118					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71524435	71524435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71524435T>C	ENST00000304743.2	+	26	5292	c.4846T>C	c.(4846-4848)Ttc>Ctc	p.F1616L	PCNX_ENST00000439984.3_Missense_Mutation_p.F1505L|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1616						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGACTTGAATTCAGAGGTAA	0.408000													87	151					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993338	73993338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73993338C>T	ENST00000297354.6	-	2	529	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	109	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.G104W(1)									CAGGGCGCCCCGCCGTTCTGA	0.647000													35	51					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47101574	47101574	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47101574G>T	ENST00000576409.1	-	9	992	c.930C>A	c.(928-930)acC>acA	p.T310T	ATPAF1_ENST00000532925.1_Silent_p.T199T|ATPAF1_ENST00000574428.1_Silent_p.T219T|ATPAF1_ENST00000329231.4_Silent_p.T242T|ATPAF1_ENST00000542495.1_Silent_p.T136T|ATPAF1_ENST00000371937.4_Silent_p.T287T			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	287					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					CTAACCCGTAGGTCTCTTTCC	0.443000													18	216					5.03518e-11	6.25324e-11	1	1	0
IGHV7-81	0	broad.mit.edu	37	14	107283020	107283020	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107283020G>A	ENST00000390639.2	-	0	176																											CAGAAGCCTTGCAGGAGACCT	0.577000													14	106					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808170	20808170	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808170T>C	ENST00000601440.1	-	4	659	c.513A>G	c.(511-513)aaA>aaG	p.K171K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTGAAAGGTTTTTTCCCAG	0.343000													19	28					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468000													30	64					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141041299	141041299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141041299G>A	ENST00000239440.4	-	21	3136	c.3071C>T	c.(3070-3072)cCg>cTg	p.P1024L	ARAP3_ENST00000508305.1_Missense_Mutation_p.P855L|ARAP3_ENST00000513878.1_Missense_Mutation_p.P686L|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTGACCCGCGGCAGGCAGCC	0.572000													6	90					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43481096	43481096	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481096T>G	ENST00000282041.5	-	26	4545	c.4511A>C	c.(4510-4512)gAg>gCg	p.E1504A	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1504					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGGGAGCCTCATGCTTCCG	0.488000													12	42					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210549	126210549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126210549C>A	ENST00000368357.3	+	10	1701	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	NCOA7_ENST00000229634.9_Missense_Mutation_p.A335D|NCOA7_ENST00000392477.2_Missense_Mutation_p.A450D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	450					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAAGAAAGCTGAGTCACAA	0.458000													26	31					4.59853e-10	5.63411e-10	1	1	0
SBF1	6305	broad.mit.edu	37	22	50900823	50900823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50900823G>A	ENST00000380817.2	-	19	2390	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	SBF1_ENST00000390679.3_Missense_Mutation_p.T736I|SBF1_ENST00000348911.6_Missense_Mutation_p.T737I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	736					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACTCAGAGTTGGCCACAA	0.627000													14	77					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53050821	53050821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53050821C>A	ENST00000359798.4	+	4	300	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGGAAATTCCTGAACCCTG	0.453000													54	107					1.38909e-20	1.82417e-20	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602000													21	36					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98824567	98824567	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824567C>A	ENST00000266058.4	-	6	797	c.552G>T	c.(550-552)gaG>gaT	p.E184D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.E184D|SLIT1_ENST00000371070.4_Missense_Mutation_p.E184D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	184					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTTACAGCACCTCCAGCCCCC	0.592000													6	112					5.18039e-06	5.91835e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179409203	179409203	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179409203A>G	ENST00000589042.1	-	345	95977	c.95753T>C	c.(95752-95754)gTt>gCt	p.V31918A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22853A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29350A|TTN_ENST00000359218.5_Missense_Mutation_p.V22978A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23045A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30277A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30277	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATCCACAACTCTTGGAGC	0.403000													10	92					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423000													8	80					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12740023	12740023	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12740023C>A	ENST00000343325.4	+	4	1842	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.A528A|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.A451A	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTGGAAAAGCCTTCAGTGTGT	0.343000													5	70					3.59834e-05	4.01776e-05	1	1	0
BEND2	139105	broad.mit.edu	37	X	18195787	18195787	+	Missense_Mutation	SNP	C	C	T	rs146293624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18195787C>T	ENST00000380033.4	-	10	1664	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	BEND2_ENST00000380030.3_Missense_Mutation_p.R420H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	511	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAACAAAATACGAACCAAGTA	0.428000													159	228					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043451	20043451	+	Missense_Mutation	SNP	G	G	A	rs144787739	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043451G>A	ENST00000570682.1	-	2	968	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	223						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527000													25	34					0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155105979	155105979	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155105979C>T	ENST00000368407.3	+	3	907	c.388_splice	c.e3-1	p.S130_splice	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	130					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATCTTGCAGCCAAACCCATC	0.507000													22	42					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006491	23006491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23006491C>T	ENST00000337451.3	-	8	1425	c.813G>A	c.(811-813)tgG>tgA	p.W271*	NIPA2_ENST00000398014.2_Nonsense_Mutation_p.W271*|NIPA2_ENST00000539711.2_Nonsense_Mutation_p.W252*|NIPA2_ENST00000398013.3_Nonsense_Mutation_p.W271*|NIPA2_ENST00000359727.4_Nonsense_Mutation_p.W252*	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	271						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCATATCTTGCCACTCCTTAA	0.373000													39	69					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48010413	48010413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48010413C>A	ENST00000234420.4	+	1	193	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	MSH6_ENST00000540021.1_Missense_Mutation_p.S14Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	14					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCCAAGTCTCCGGCGCTG	0.672000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	31					0.000442599	0.00048047	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78433850	78433850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78433850G>A	ENST00000370767.1	-	3	336	c.250_splice	c.e3+1	p.D83_splice	FUBP1_ENST00000370768.2_Splice_Site_p.D83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.D104_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATACTTACAGTCATTTTGAG	0.318000			"""F, N"""		oligodendroglioma								30	27					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360435	72360435	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360435T>C	ENST00000001146.2	-	5	1066	c.861_splice	c.e5-1	p.D288_splice	CYP26B1_ENST00000412253.1_Splice_Site_p.D97_splice|CYP26B1_ENST00000546307.1_Splice_Site_p.D213_splice	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	288					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGGGTCCCGTCCTGCAGGGC	0.637000													6	7					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679047	150679047	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150679047T>C	ENST00000368993.2	-	10	891	c.786A>G	c.(784-786)gaA>gaG	p.E262E	HORMAD1_ENST00000322343.7_Silent_p.E255E|HORMAD1_ENST00000368995.4_Silent_p.E182E|HORMAD1_ENST00000361824.2_Silent_p.E262E			Q86X24	HORM1_HUMAN	HORMA domain containing 1	262					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCTCCTGTTCATCTTCTA	0.303000													4	80					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	rs144557912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507000													46	41					0	0	1	0	0
GABBR1	0	broad.mit.edu	37	6	29577076	29577076	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29577076C>T	ENST00000377034.4	-	15	2124	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Missense_Mutation_p.V480I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V480I|GABBR1_ENST00000377016.4_Missense_Mutation_p.V535I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	597					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGGAGAGAACTGAGACGGAG	0.517000													17	34					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21205482	21205482	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21205482A>G	ENST00000342679.4	+	6	676	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	MAP2K3_ENST00000361818.5_Missense_Mutation_p.M114V|MAP2K3_ENST00000316920.6_Missense_Mutation_p.M114V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	143	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CATGGAGCTCATGGACACATC	0.577000													4	35					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54886386	54886386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54886386C>T	ENST00000333896.5	+	30	6685	c.6300C>T	c.(6298-6300)gcC>gcT	p.A2100A	SPTBN1_ENST00000356805.4_Silent_p.A2113A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2113					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGAGGAAGCCGAGTCCCAGC	0.582000													73	98					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56103882	56103882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56103882G>A	ENST00000221665.3	-	3	1514	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCCTTGCCGCAGATGTGGC	0.672000													5	5					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8069839	8069839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8069839C>T	ENST00000332175.8	+	8	2325	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R217*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R430*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R430*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R368*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	430	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAACAAGTGCGAGAAGAAGT	0.443000													8	15					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86297963	86297963	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86297963A>G	ENST00000376395.4	-	3	874	c.351T>C	c.(349-351)gcT>gcC	p.A117A	UBQLN1_ENST00000257468.7_Silent_p.A117A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	117					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTGTTTGCTGAGCTGAATGAT	0.408000													6	74					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642372	99642372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99642372C>T	ENST00000345514.2	-	3	854	c.588G>A	c.(586-588)ccG>ccA	p.P196P	BCL11B_ENST00000357195.3_Silent_p.P267P|BCL11B_ENST00000443726.2_Silent_p.P73P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	267						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCGAGCGGCGGCGGGATGG	0.711000			T	TLX3	T-ALL								3	7					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113059	234113059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234113059G>A	ENST00000359570.5	+	28	3227	c.3227G>A	c.(3226-3228)tGc>tAc	p.1076_1076insY	INPP5D_ENST00000450745.1_Missense_Mutation_p.840_840insY|INPP5D_ENST00000455936.2_Missense_Mutation_p.840_840insY			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTTCACGTGCTCATCCTCT	0.721000													7	18					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38090666	38090666	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38090666T>G	ENST00000397166.2	+	2	679	c.154T>G	c.(154-156)Tct>Gct	p.S52A	DDHD2_ENST00000520272.2_Missense_Mutation_p.S52A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	52	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATAATAGATTCTAAGGAGAC	0.403000													25	42					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325979	70325979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70325979C>T	ENST00000374251.4	-	3	168	c.121G>A	c.(121-123)Gat>Aat	p.D41N	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	41										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACACAAATCGATGGTGTCT	0.473000													22	22					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307765	74307765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74307765G>T	ENST00000446526.3	-	10	1461	c.1016C>A	c.(1015-1017)aCt>aAt	p.T339N	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.T236N|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	310					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGAGGGACAGTATTCGTCAC	0.433000													5	48					0.014758	0.0152625	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68172103C>T	ENST00000243457.3	+	2	1306	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463000													5	39					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36259226	36259226	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36259226G>A	ENST00000344691.4	-	1	1761	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	RUNX1_ENST00000325074.5_Silent_p.L77L|RUNX1_ENST00000358356.5_Silent_p.L62L|RUNX1_ENST00000300305.3_Silent_p.L89L|RUNX1_ENST00000399240.1_Silent_p.L62L|RUNX1_ENST00000486278.2_Silent_p.L65L|RUNX1_ENST00000437180.1_Silent_p.L89L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	62	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTGCGCACCAGCTCGCCCGGG	0.711000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								10	21					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17692076	17692076	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17692076C>T	ENST00000252599.4	+	12	1812	c.1692C>T	c.(1690-1692)gaC>gaT	p.D564D		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		ACACAGGAGACGATGGCTATG	0.597000													16	127					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103710	55103710	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55103710C>T	ENST00000491143.2	+	1	794	c.762C>T	c.(760-762)caC>caT	p.H254H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	254					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCGGGCCACGACAAAATGC	0.706000													4	36					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20070400	20070400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20070400C>T	ENST00000276390.2	+	9	951	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	304					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGTTCTTATGCTGAAGCACTT	0.383000													52	75					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57600483	57600483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57600483C>T	ENST00000243077.3	+	76	12284	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3940					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTCCAACCGCCACCGGCG	0.617000													17	26					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74748994	74748994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74748994C>T	ENST00000567435.1	-	3	666	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	UBL7_ENST00000564488.1_Missense_Mutation_p.R68Q|UBL7_ENST00000361351.4_Missense_Mutation_p.R68Q|UBL7_ENST00000395081.2_Missense_Mutation_p.R68Q|UBL7_ENST00000565335.1_Missense_Mutation_p.R68Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	68	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTTAGCTTCCGACCACAGTA	0.413000													35	67					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805603	39805603	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805603A>T	ENST00000248668.4	-	1	373	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	125						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCTCCGCCAGGCGGTTGCT	0.701000													4	6					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350925	89350925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350925C>A	ENST00000301030.4	-	9	2485	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E675D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	675	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGATCATTCTCTAACAGTA	0.368000													15	219					6.31663e-08	7.49729e-08	1	1	0
XKRX	402415	broad.mit.edu	37	X	100183177	100183177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100183177G>T	ENST00000328526.5	-	1	721	c.156C>A	c.(154-156)ttC>ttA	p.F52L	XKRX_ENST00000372956.2_Missense_Mutation_p.F39L|XKRX_ENST00000468904.1_Missense_Mutation_p.F39L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	39						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAAGGTGGAGAAAAGGATGC	0.433000													11	124					2.80697e-09	3.39963e-09	1	1	0
FSD1	79187	broad.mit.edu	37	19	4323207	4323207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4323207C>A	ENST00000221856.6	+	11	1411	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	422	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGACTGCCTGGGTGTGCA	0.657000													30	45					3.57733e-08	4.26642e-08	1	1	0
ZNF214	0	broad.mit.edu	37	11	7021900	7021900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7021900G>A	ENST00000278314.4	-	3	1329	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ZNF214_ENST00000536068.1_Silent_p.D338D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTCTACTGAGGTCTTTATCAC	0.373000													56	56					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905903	86905903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86905903C>A	ENST00000370565.4	+	8	1438	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	426	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGATAAGCTTCTTGGCAATTG	0.443000													6	185					3.59834e-05	4.01776e-05	1	1	0
APEH	327	broad.mit.edu	37	3	49720671	49720671	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49720671C>A	ENST00000296456.5	+	22	2495	c.2093_splice	c.e22-1	p.L699_splice	APEH_ENST00000438011.1_Splice_Site_p.L704_splice	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	699					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562000													16	139					1.3612e-06	1.57881e-06	1	1	0
TRHDE	29953	broad.mit.edu	37	12	73012803	73012803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:73012803C>A	ENST00000261180.4	+	13	2415	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	773					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCATGGAAAACTACAACATTT	0.333000													14	25					2.23348e-06	2.57349e-06	1	1	0
STAC	6769	broad.mit.edu	37	3	36570431	36570431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36570431T>G	ENST00000273183.3	+	10	1364	c.1064T>G	c.(1063-1065)tTc>tGc	p.F355C	STAC_ENST00000457375.2_Missense_Mutation_p.F294C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	355					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTAGAACCTTCATTGGGTGT	0.393000													23	32					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234728	18234728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18234728C>T	ENST00000380033.4	-	2	283	c.151G>A	c.(151-153)Gca>Aca	p.A51T	BEND2_ENST00000380030.3_Missense_Mutation_p.A51T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	51										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTATCTGCTGTGACATAA	0.408000													9	66					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19492748	19492748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19492748G>T	ENST00000396229.2	+	15	3073	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	TMC5_ENST00000564959.1_Missense_Mutation_p.R458M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.R775M|TMC5_ENST00000541464.1_Missense_Mutation_p.R723M|TMC5_ENST00000542583.2_Missense_Mutation_p.R775M|TMC5_ENST00000561503.1_Missense_Mutation_p.R416M|TMC5_ENST00000219821.5_Missense_Mutation_p.R529M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	775						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATTGCCAGGAACGTTCTA	0.448000													43	94					6.4771e-29	8.66007e-29	1	1	0
PRPF31	26121	broad.mit.edu	37	19	54625310	54625310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54625310G>A	ENST00000321030.4	+	4	659	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PRPF31_ENST00000419967.1_Missense_Mutation_p.E104K|PRPF31_ENST00000391755.1_Missense_Mutation_p.E104K|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	104					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTGGAGATCGAAAACGAGCT	0.642000													6	13					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152517446	152517446	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152517446G>A	ENST00000256001.8	+	7	737	c.603G>A	c.(601-603)acG>acA	p.T201T	ACTR3B_ENST00000377776.3_Silent_p.T201T|ACTR3B_ENST00000397282.2_Silent_p.T113T|ACTR3B_ENST00000537264.1_Silent_p.T113T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	201					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGATATTACGTATTTCATTC	0.468000													4	30					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44027652	44027652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027652G>T	ENST00000269439.7	+	4	663	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNF165_ENST00000543885.1_Missense_Mutation_p.Q12H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	204							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTCCACACAGATGGTAAGTG	0.582000													36	50					1.836e-18	2.39396e-18	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113084	59113084	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113084C>A	ENST00000395153.3	+	4	1779	c.1632C>A	c.(1630-1632)aaC>aaA	p.N544K	DACT1_ENST00000556859.1_Missense_Mutation_p.N300K|DACT1_ENST00000395151.3_Missense_Mutation_p.N300K|DACT1_ENST00000335867.4_Missense_Mutation_p.N581K|DACT1_ENST00000541264.2_Missense_Mutation_p.N300K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	581					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCGTGAAGAACTCCAGCCTGA	0.667000													7	18					0.0381472	0.0390147	1	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165057	87165057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87165057G>A	ENST00000285393.3	+	8	1046	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	302					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACAAATGAATGTGCTGGCATT	0.353000													6	98					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82421735G>A	ENST00000370728.1	+	13	2641	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K			O95490	LPHN2_HUMAN	latrophilin 2	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358000													22	54					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59469378	59469378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59469378C>T	ENST00000588462.1	+	25	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588874.1_Silent_p.S649S|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000390652.5_Silent_p.S893S|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Silent_p.S878S|BCAS3_ENST00000585744.1_Silent_p.S664S|BCAS3_ENST00000408905.3_Silent_p.S900S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	893						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGAGTAACAGCTCAGGCTCCA	0.597000													37	48					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814920	13814920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13814920C>A	ENST00000265104.4	-	43	7128	c.7024G>T	c.(7024-7026)Gat>Tat	p.D2342Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2342	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGCATCTACTGGACCA	0.398000									Kartagener syndrome				18	37					6.49762e-13	8.19883e-13	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27149775	27149775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27149775G>A	ENST00000396352.4	-	2	684	c.485C>T	c.(484-486)tCt>tTt	p.S162F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.S162F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	162					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTTTGTCGAGACTCTTTCAT	0.562000													23	73					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360968	42360968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360968C>T	ENST00000298119.4	+	4	3090	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	634						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTTCCTGGACTTCAAGCACT	0.448000										HNSCC(30;0.082)			6	23					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196451510	196451510	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196451510C>A	ENST00000367433.5	-	4	377		c.e4-1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATATGAGACCTATAAAAAGA	0.269000													4	15					0.00909568	0.00947522	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6648773	6648773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6648773G>A	ENST00000299441.3	-	14	5908	c.5497C>T	c.(5497-5499)Cca>Tca	p.P1833S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1833	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAGCTGGCTGGCCTCCA	0.592000													8	13					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221879454	221879454	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221879454T>A	ENST00000366899.3	-	3	1404	c.1166A>T	c.(1165-1167)gAg>gTg	p.E389V	DUSP10_ENST00000323825.3_Missense_Mutation_p.E47V|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.E47V	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	389	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTCAAAAGCCTCTTCAAAGTA	0.468000													5	114					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8496321	8496321	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8496321C>A	ENST00000447869.1	-	1	1050	c.132G>T	c.(130-132)caG>caT	p.Q44H	STK33_ENST00000534493.1_Missense_Mutation_p.Q3H|STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.Q44H|STK33_ENST00000315204.1_Missense_Mutation_p.Q44H|STK33_ENST00000396672.1_Missense_Mutation_p.Q44H			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	44						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTTGATGTCTGTGACATTT	0.378000													9	139					1.58986e-06	1.84011e-06	1	1	0
CXorf61	203413	broad.mit.edu	37	X	115592988	115592988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115592988C>T	ENST00000371894.4	-	2	408	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	88						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AGCTTGTTTTCCACCATACTG	0.438000													5	159					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69951859	69951859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69951859G>A	ENST00000355303.5	+	5	1017	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ANO1_ENST00000398543.2_Missense_Mutation_p.D122N|ANO1_ENST00000538023.1_Missense_Mutation_p.D238N|ANO1_ENST00000316296.5_Missense_Mutation_p.D210N|ANO1_ENST00000530676.1_Missense_Mutation_p.D122N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	238					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTCTGATAAGGATTCCTTTTT	0.502000													5	39					0	0	1	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797648	31797648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31797648G>T	ENST00000375650.3	+	1	2137	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y	HSPA1B_ENST00000545241.1_Missense_Mutation_p.D550Y	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	641					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						TGAGGAGGTGGATTAGGGGCC	0.567000													6	94					0.000157383	0.00017284	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	93007444	93007444	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007444G>A	ENST00000268164.3	+	6	1194	c.957G>A	c.(955-957)ccG>ccA	p.P319P	ST8SIA2_ENST00000539113.1_Silent_p.P298P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	319					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCCCTTTCCGCTGGATCAGA	0.517000													13	30					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7507089	7507089	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7507089C>A	ENST00000250113.7	-	5	769	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	145						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTCAGATCCTCGGGCACAG	0.507000													21	27					7.87624e-14	1.00187e-13	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48689388	48689388	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689388C>T	ENST00000544264.1	-	12	6125	c.5845G>A	c.(5845-5847)Gcc>Acc	p.A1949T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1949T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1949	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCACAGGCGTTGGTCACA	0.672000													7	56					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137890476	137890476	+	Splice_Site	SNP	T	T	G	rs34737927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137890476T>G	ENST00000260803.4	-	3	555	c.403_splice	c.e3+1	p.K134_splice	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	134						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAACAATACCTTTTCGATAGT	0.338000													7	59					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219521095	219521095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219521095G>T	ENST00000411696.2	-	3	837	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	ZNF142_ENST00000449707.1_Missense_Mutation_p.L20M			P52746	ZN142_HUMAN	zinc finger protein 142	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGCACAGTCCATCCATC	0.582000													7	33					0.0293803	0.0301098	1	1	0
XRN1	54464	broad.mit.edu	37	3	142030504	142030504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142030504G>T	ENST00000264951.4	-	42	5087	c.4970C>A	c.(4969-4971)tCt>tAt	p.S1657Y	XRN1_ENST00000392981.2_Missense_Mutation_p.S1645Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1657					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCAATCGGAGAGGACTTCAA	0.448000													6	94					0.00198382	0.00210581	1	1	0
GABBR1	0	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000376977.3_Silent_p.P288P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000377016.4_Silent_p.P226P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTGTGGCTGATGGGTGCGTTC	0.562000													9	21					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17888593	17888593	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17888593A>G	ENST00000448223.2	-	18	2168	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	SMC6_ENST00000381272.4_Silent_p.C659C|SMC6_ENST00000402989.1_Silent_p.C633C|SMC6_ENST00000351948.4_Silent_p.C633C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	633	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCTTCTCTACAATTTTTGG	0.343000													28	34					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422529	156422529	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422529G>C	ENST00000461166.1	+	6	2171	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	TIPARP_ENST00000542783.1_Missense_Mutation_p.R528T|TIPARP_ENST00000486483.1_Missense_Mutation_p.R528T|TIPARP_ENST00000295924.7_Missense_Mutation_p.R528T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	528	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAATGAGAGACATTTATTT	0.388000													12	123					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484203	51484203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51484203C>T	ENST00000371117.3	-	67	12176	c.11901G>A	c.(11899-11901)gtG>gtA	p.V3967V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3967					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGAGCAGGCACAGCAGCCT	0.567000													34	45					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5155838	5155838	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5155838C>T	ENST00000460006.1	+	3	511	c.204C>T	c.(202-204)aaC>aaT	p.N68N	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	68					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATGGAAGAACTGGTGGGTGA	0.443000													44	72					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837825	93837825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93837825G>A	ENST00000315765.9	+	16	2822	c.2814G>A	c.(2812-2814)tgG>tgA	p.W938*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	938	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGAATCCTGGTATCTGGATG	0.358000													36	70					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116929940	116929940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929940C>A	ENST00000537345.1	+	4	577	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	ATP1A1_ENST00000295598.5_Missense_Mutation_p.L72M|ATP1A1_ENST00000369496.4_Missense_Mutation_p.L41M	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	72					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCTGAGATCCTGGCGCGAGA	0.502000													8	53					0.000157383	0.00017284	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141259299	141259299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141259299C>T	ENST00000389484.3	-	55	9778	c.8807G>A	c.(8806-8808)aGt>aAt	p.S2936N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2936	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACATCCACTGACTTTCTT	0.403000										TSP Lung(27;0.18)			8	82					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315826	125315826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125315826C>T	ENST00000373688.2	+	1	436	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTTGGTGGCCTTGACAACT	0.507000													50	76					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148750076	148750076	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148750076A>T	ENST00000310053.5	-	25	3154	c.2961T>A	c.(2959-2961)acT>acA	p.T987T	HLTF_ENST00000494055.1_Silent_p.T987T|HLTF_ENST00000465259.1_Silent_p.T986T|HLTF_ENST00000392912.2_Silent_p.T987T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	987	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGTTTTTTAGTTCCAAAGG	0.299000													10	24					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238434343	238434343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238434343G>A	ENST00000264605.3	+	7	1069	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Missense_Mutation_p.E219K|MLPH_ENST00000338530.4_Missense_Mutation_p.E259K|MLPH_ENST00000445024.2_Missense_Mutation_p.E259K|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTCCCATCCGGAAGAGCAGCC	0.662000													19	38					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305312	119305312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119305312G>A	ENST00000478399.1	+	3	1884	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ADPRH_ENST00000478927.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000465513.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.R160Q			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	160					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAGAGTGGTCGGATGACCCAC	0.587000													77	107					0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150846052	150846052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150846052C>A	ENST00000297537.4	-	2	715	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	239						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCCCAGGCTTCCCTTTAG	0.642000													8	200					0.00307968	0.00325696	1	1	0
TPH1	7166	broad.mit.edu	37	11	18054868	18054868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18054868C>T	ENST00000250018.2	-	3	917	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TPH1_ENST00000341556.2_Missense_Mutation_p.A119T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	119					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCTGTTGGCACAATGGTCC	0.358000													68	153					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521253	27521253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27521253T>C	ENST00000544915.1	+	2	309	c.90T>C	c.(88-90)agT>agC	p.S30S	ARNTL2_ENST00000266503.5_Silent_p.S30S|ARNTL2_ENST00000261178.5_Silent_p.S30S|ARNTL2_ENST00000546179.1_Silent_p.S41S|ARNTL2_ENST00000311001.5_Silent_p.S30S|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000395901.2_Silent_p.S41S	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	30					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCCGCGTGAGTCCAGGGACAA	0.468000													22	31					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257812	158257812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257812G>T	ENST00000296526.7	+	11	2082	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	GRIA2_ENST00000393815.2_Missense_Mutation_p.S539I|GRIA2_ENST00000449365.1_Missense_Mutation_p.S539I|GRIA2_ENST00000264426.9_Missense_Mutation_p.S586I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S539I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	586					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACAAAGTAGTGAATCAACT	0.433000													12	107					3.07112e-06	3.52574e-06	1	1	0
PGR	5241	broad.mit.edu	37	11	100998621	100998621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100998621G>A	ENST00000325455.5	-	1	2634	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PGR_ENST00000263463.5_Missense_Mutation_p.A394V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	394	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGAGGCCTCCGCGCCTTCCTC	0.701000													5	11					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760029	31760029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31760029G>A	ENST00000375663.3	-	6	1276	c.836C>T	c.(835-837)aCc>aTc	p.T279I	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	279					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGTCATAGGTAATGACCCC	0.552000													27	40					0	0	1	0	0
DEFB132	400830	broad.mit.edu	37	20	238458	238458	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:238458C>A	ENST00000382376.3	+	1	82	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	13					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCTCGGATTCCTGACCCAGG	0.522000													5	27					0.00116845	0.00124821	1	1	0
USP34	9736	broad.mit.edu	37	2	61433181	61433181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61433181C>A	ENST00000398571.2	-	72	9201	c.9125G>T	c.(9124-9126)aGt>aTt	p.S3042I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3042					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTGGAGGACTATAGGAATT	0.363000													40	59					4.01765e-15	5.14825e-15	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36162799	36162799	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36162799G>T	ENST00000378660.1	+	11	1570	c.1382G>T	c.(1381-1383)aGa>aTa	p.R461I	CHDC2_ENST00000313548.4_Missense_Mutation_p.R461I					calponin homology domain containing 2																		agaacaaagagacagaagaag	0.438000													15	22					6.31663e-08	7.49729e-08	1	1	0
ANPEP	290	broad.mit.edu	37	15	90347138	90347138	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90347138C>T	ENST00000300060.6	-	7	1588	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	425	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.A425A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTGGGCTCCGCATAGTCAG	0.632000													7	24					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129835534	129835534	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129835534A>G	ENST00000421865.2	+	64	9054	c.9005A>G	c.(9004-9006)gAc>gGc	p.D3002G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3002	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCATGTGGACAATGGTGCG	0.428000													14	23					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38296400	38296400	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38296400G>T	ENST00000553443.1	+	29	5127		c.e29-1		TTC6_ENST00000267368.7_Splice_Site|TTC6_ENST00000382320.3_Splice_Site|TTC6_ENST00000476979.1_Splice_Site					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATACTGCAGATCAGTACTA	0.363000													18	35					9.16793e-09	1.10245e-08	1	1	0
MFAP2	4237	broad.mit.edu	37	1	17303391	17303391	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303391C>A	ENST00000375535.3	-	4	444		c.e4+1		MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Splice_Site|MFAP2_ENST00000375534.3_Splice_Site			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2							microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCCCGTTACCTTGATAATC	0.582000													58	116					6.70656e-16	8.62836e-16	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184723757	184723757	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184723757G>T	ENST00000318130.8	-	1	290	c.24C>A	c.(22-24)ggC>ggA	p.G8G		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	8					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGACCCACAGCCCCGGCCGC	0.751000													3	5					6.4e-05	7.11719e-05	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27518347	27518347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518347A>G	ENST00000356183.4	-	9	1388	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L458P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATAGACGCCAGGCTCACGGT	0.597000													5	37					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52824343	52824343	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52824343C>T	ENST00000252245.5	-	5	1237	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	339	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTACCAGGACTCAGCCTCGG	0.542000													30	67					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307414	9307414	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9307414C>T	ENST00000261336.2	-	29	3600	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	PZP_ENST00000381997.2_Missense_Mutation_p.R977H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTCTGAGGGCGCTCCCAATG	0.468000													7	22					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43350539	43350539	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43350539C>A	ENST00000290650.4	-	10	1260	c.1182_splice	c.e10+1	p.K394_splice	UBR1_ENST00000382177.2_Splice_Site_p.K394_splice	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	394					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAATAATTACCTTCACAAATT	0.254000													4	30					0.00909568	0.00947522	1	1	0
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647000													37	44					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81676815	81676815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81676815C>A	ENST00000550584.2	-	25	3287	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E998*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E899*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E845*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E903*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E977*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	903										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTCAGATTCTTTCTGTGTT	0.318000													9	16					0.000442599	0.00048047	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64184478	64184478	+	Silent	SNP	C	C	T	rs145790169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184478C>T	ENST00000295902.6	-	2	711	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PRICKLE2_ENST00000564377.1_Silent_p.P98P|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	42	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCAGACCCGGCGGGACCC	0.512000													18	23					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069117	21069117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21069117C>T	ENST00000381545.3	+	16	2264	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P682L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CATTTTGTACCTTCTGCTGGA	0.328000													16	37					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137803019C>T	ENST00000239938.4	+	2	1153	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627000													47	76					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75566178	75566178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75566178C>T	ENST00000299641.4	-	7	1904	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	NDST2_ENST00000309979.6_Missense_Mutation_p.V435M	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	435	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ATGGGGTACACACCCGAGTGG	0.617000													18	23					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859507	38859507	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38859507G>T	ENST00000264651.2	-	1	495	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	147	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGGTCATTGAGGTTCTGCATG	0.512000													15	168					4.7546e-09	5.74312e-09	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101815130	101815130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101815130G>A	ENST00000263468.8	+	3	653	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	128							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTTTCACAGCGGAGGAAAGCA	0.338000													8	49					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434660	79434660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79434660C>T	ENST00000264895.6	+	65	10568	c.10128C>T	c.(10126-10128)caC>caT	p.H3376H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3371					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACACCAGCACGTCTGCTCCA	0.498000													54	72					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912849	130912849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130912849C>A	ENST00000261655.4	-	12	2399	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	746						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCTGCTCTCTGTGTGGTAC	0.602000													13	29					9.31168e-06	1.06029e-05	1	1	0
CASP1	834	broad.mit.edu	37	11	104900565	104900565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900565G>A	ENST00000533400.1	-	6	724	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CASP1_ENST00000531166.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.T230M|CASP1_ENST00000393136.4_Missense_Mutation_p.T209M|CASP1_ENST00000525825.1_Missense_Mutation_p.T209M|CASP1_ENST00000534497.1_Missense_Mutation_p.T137M|CASP1_ENST00000594519.1_Missense_Mutation_p.T137M|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.T191M|CASP1_ENST00000527979.1_Missense_Mutation_p.T193M|CASP1_ENST00000593315.1_Missense_Mutation_p.T209M|CASP1_ENST00000446369.1_Missense_Mutation_p.T137M|CASP1_ENST00000526568.1_Missense_Mutation_p.T137M|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.T230M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	230					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCAGGAACGTGCTGTCAGA	0.453000													6	133					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966434	2966434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966434G>A	ENST00000575751.1	-	1	467	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TGAGGAGGAGGCCATAGAGAA	0.577000													13	9					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7685535	7685535	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7685535C>T	ENST00000358368.4	-	15	2029	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	XAB2_ENST00000534844.1_Silent_p.A661A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATCTCACGCGCGTGCTCGT	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					9	21					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106360	27106360	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106360C>A	ENST00000324856.7	+	20	6342	c.5971C>A	c.(5971-5973)Ctg>Atg	p.L1991M	ARID1A_ENST00000457599.2_Missense_Mutation_p.L1774M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1608M|ARID1A_ENST00000540690.1_Missense_Mutation_p.L319M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1991					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTCGAAGCCTGTCATTTGT	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	73					0.014758	0.0152625	1	1	0
SPTLC2	9517	broad.mit.edu	37	14	78028820	78028820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78028820G>T	ENST00000216484.2	-	6	962	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCATCACTCAGAATCAGGCAA	0.433000													6	48					5.18039e-06	5.91835e-06	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140967806	140967806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140967806C>T	ENST00000253811.6	-	2	269	c.129G>A	c.(127-129)cgG>cgA	p.R43R	DIAPH1_ENST00000389054.3_Silent_p.R43R|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398557.4_Silent_p.R43R|DIAPH1_ENST00000389057.5_Intron			O60610	DIAP1_HUMAN	diaphanous-related formin 1	43					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCATGAGCCGCTTCAGAG	0.418000													3	21					0	0	1	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524631	154524631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154524631C>T	ENST00000292211.4	-	8	983	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	302							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTGGAGATCGTTGTGCAAA	0.493000													48	78					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482147	76482147	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76482147C>T	ENST00000389840.5	-	46	7252	c.7128G>A	c.(7126-7128)tcG>tcA	p.S2376S	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.S2385S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTTCCCTGCGAGGGGAACT	0.463000													26	31					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237909	26237909	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26237909C>A	ENST00000519902.1	-	0	2039																											ACAGAAGGTTCTTTGTTACTT	0.413000													16	38					4.96729e-08	5.9048e-08	1	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21745032G>A	ENST00000319481.3	-	27	2953	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.T403M|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T534M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTC	0.532000													84	97					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489043	149489043	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149489043G>A	ENST00000378016.2	+	0	5384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGCACAGCACCCGCCAG	0.657000													11	26					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556744	214556744	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214556744C>A	ENST00000366956.5	-	13	2648	c.2454G>T	c.(2452-2454)gaG>gaT	p.E818D	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	818					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTTTGACCCGCTCCTTCACAC	0.552000													11	74					6.40141e-05	7.11719e-05	1	1	0
XIST	0	broad.mit.edu	37	X	73063002	73063002	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73063002G>T	ENST00000429829.1	-	0	9586					NR_001564.2																						AGTCCCAGGAGAAGTTTTGAG	0.468000													16	35					2.31682e-05	2.60394e-05	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75265633	75265633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75265633T>C	ENST00000325680.7	+	5	3757	c.3633T>C	c.(3631-3633)gcT>gcC	p.A1211A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.A1016A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTAGAAATGCTCCAATGGAAC	0.448000													3	23					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107713	114107713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114107713C>T	ENST00000375418.3	-	1	126	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	14					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGAGCATCGCCGACGCTCCCC	0.587000													12	22					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488000													21	26					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11119373	11119373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11119373T>A	ENST00000376957.2	-	2	277	c.197A>T	c.(196-198)gAc>gTc	p.D66V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	66					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GATGACACCGTCCAACACCAG	0.622000													12	96					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318841	10318841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10318841G>A	ENST00000403437.2	-	7	690	c.596C>T	c.(595-597)gCa>gTa	p.A199V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAATTGTTGCAAAGTATTG	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				36	48					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573046	25573046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573046G>A	ENST00000243189.7	-	2	685	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C1orf63_ENST00000431849.2_Nonsense_Mutation_p.Q137*|C1orf63_ENST00000417642.2_Nonsense_Mutation_p.Q130*	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	137	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTAGCGCTGTCCCCGCGCG	0.647000													11	59					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154172024	154172024	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154172024C>T	ENST00000404039.1	+	3	754	c.166_splice	c.e3-1	p.A56_splice	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Splice_Site_p.A58_splice|DPP6_ENST00000406326.1_Splice_Site_p.A120_splice|DPP6_ENST00000332007.3_Splice_Site_p.A58_splice|DPP6_ENST00000377770.3_Splice_Site_p.A120_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	120					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTTTCTAGCGGAAGATAAT	0.343000													10	48					0	0	1	0	0
MIR101-1	0	broad.mit.edu	37	1	65524119	65524119	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65524119C>T	ENST00000362265.1	-	0	72					NR_029516.1																						AAGATGGCTGCCATCCTTCAG	0.507000													22	49					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27675609	27675609	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27675609T>C	ENST00000543823.1	+	5	960	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SYTL1_ENST00000318074.5_Silent_p.A154A|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	166					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTAAAGGCTTCAGATCCTG	0.607000													10	74					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049645	134049645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134049645G>T	ENST00000359428.5	+	22	3241	c.3097G>T	c.(3097-3099)Gca>Tca	p.A1033S	NUP214_ENST00000451030.1_Missense_Mutation_p.A1034S|NUP214_ENST00000411637.2_Missense_Mutation_p.A1023S			P35658	NU214_HUMAN	nucleoporin 214kDa	1033	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCCCATGCAGCACCTTTTGC	0.532000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								8	74					0.0381472	0.0390147	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40697776	40697776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40697776A>G	ENST00000298910.7	+	27	3675	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1206S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1206					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGCAGCAATGATATTCAG	0.353000													4	78					0	0	1	0	0
ARPC3	10094	broad.mit.edu	37	12	110874914	110874914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110874914G>T	ENST00000228825.7	-	4	373	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	76					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CAGACATTCAGAAATGTAGAG	0.348000													16	28					2.94398e-08	3.51695e-08	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602437	13602437	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13602437T>G	ENST00000040738.5	-	10	6222	c.6087A>C	c.(6085-6087)aaA>aaC	p.K2029N		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2029							DNA binding										CCTCATCTTCTTTTTCACTTG	0.448000													5	22					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70460821	70460821	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70460821G>A	ENST00000373998.1	-	25	4719	c.4022C>T	c.(4021-4023)gCt>gTt	p.A1341V	ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1355V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1353V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1263V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1353V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1353					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGCGCACAGCCAGGATGCG	0.547000													4	52					0	0	1	0	0
IL1RAP	0	broad.mit.edu	37	3	190345207	190345207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190345207G>A	ENST00000412504.2	+	7	1123	c.871G>A	c.(871-873)Gac>Aac	p.D291N	IL1RAP_ENST00000439062.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D291N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.D150N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D291N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	291	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAACCTGATGACATCACTAT	0.418000													4	65					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114290890	114290890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114290890G>A	ENST00000357077.4	+	43	11592	c.11539G>A	c.(11539-11541)Gta>Ata	p.V3847I	ANK2_ENST00000510275.2_Missense_Mutation_p.V414I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3814I|ANK2_ENST00000509550.1_Missense_Mutation_p.V938I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1762I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1753I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3814					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCCTCGTAATAGTGGA	0.542000													17	31					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30202297	30202297	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30202297T>C	ENST00000261708.4	-	14	1398	c.1261A>G	c.(1261-1263)Ata>Gta	p.I421V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCATGGCTATGTCAGGGCTC	0.463000													31	70					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23793493	23793493	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23793493C>A	ENST00000397276.2	+	6	889	c.876C>A	c.(874-876)gtC>gtA	p.V292V	BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V319V|PABPN1_ENST00000557702.1_Silent_p.V164V|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V319V|PABPN1_ENST00000216727.4_Silent_p.V292V|PABPN1_ENST00000556821.1_Silent_p.V164V					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGTCGCGTCTACAGGTCAG	0.637000													15	55					5.01169e-05	5.58345e-05	1	1	0
DDX42	11325	broad.mit.edu	37	17	61895444	61895444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895444G>A	ENST00000578681.1	+	19	3104	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	DDX42_ENST00000583590.1_Missense_Mutation_p.G835R|DDX42_ENST00000457800.2_Missense_Mutation_p.G835R|DDX42_ENST00000359353.5_Missense_Mutation_p.G716R|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.G835R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	835	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACGTCACGGAGATGGTGG	0.582000													21	28					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109103047	109103047	+	Silent	SNP	G	G	A	rs149849446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109103047G>A	ENST00000309863.6	+	16	4587	c.3873G>A	c.(3871-3873)acG>acA	p.T1291T		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACCAGCGTACGCTAAGTGCAT	0.502000													26	37					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35650064	35650064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35650064C>T	ENST00000357214.5	-	10	2215	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	706					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCTAAAATCGGGGTTTTTT	0.413000			T	TFE3	papillary renal cell								20	47					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867954	57867954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867954G>A	ENST00000393797.2	-	19	2251	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R597W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R676W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R616W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R597W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R413W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAATCTAACCGACCTTCTGGA	0.517000													11	23					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49239515	49239515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49239515C>A	ENST00000308025.3	-	2	130	c.51G>T	c.(49-51)aaG>aaT	p.K17N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	17						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTTTCCTCCTTGGAAGGTG	0.507000													24	28					6.32553e-13	7.99037e-13	1	1	0
UBE2O	63893	broad.mit.edu	37	17	74392626	74392626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74392626G>A	ENST00000319380.7	-	14	2456	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	798							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTCCATCAGCCCGGCCATG	0.632000													69	95					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27287914	27287914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27287914G>A	ENST00000397501.1	+	12	1456	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PTK2B_ENST00000517339.1_Silent_p.K216K|PTK2B_ENST00000420218.2_Silent_p.K216K|PTK2B_ENST00000544172.1_Silent_p.K216K|PTK2B_ENST00000338238.4_Silent_p.K216K|PTK2B_ENST00000346049.5_Silent_p.K216K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	216	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTTCCCAAAGCAGATGCAGG	0.547000													25	58					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442479	33442479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442479G>T	ENST00000297991.4	-	5	610	c.530C>A	c.(529-531)gCc>gAc	p.A177D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	177					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GTCAACAATGGCCAGCACACA	0.612000													5	11					2.0095e-06	2.31757e-06	1	1	0
POLE	5426	broad.mit.edu	37	12	133201533	133201533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201533G>A	ENST00000320574.5	-	48	6748	c.6705C>T	c.(6703-6705)taC>taT	p.Y2235Y	POLE_ENST00000535270.1_Silent_p.Y2208Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2235					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGCAGCTGCAGTACACAGGCA	0.672000								DNA polymerases (catalytic subunits)					18	22					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085532	139085532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139085532G>T	ENST00000333188.5	-	15	1943	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	COPB2_ENST00000507777.1_Missense_Mutation_p.L559M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	588					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACTGAAACCAGCAGGGAATAG	0.443000													5	73					0.184627	0.186383	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165706881	165706881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165706881G>T	ENST00000543069.1	-	6	1410	c.829C>A	c.(829-831)Ctt>Att	p.L277I	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCATAAGGAAGGACATCACAC	0.483000													7	120					2.0095e-06	2.31757e-06	1	1	0
MUC4	4585	broad.mit.edu	37	3	195515494	195515494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515494G>A	ENST00000463781.3	-	2	3416	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S986F|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	991	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCCGAGGA	0.577000													7	9					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646617	23646617	+	Missense_Mutation	SNP	G	G	A	rs45510998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646617G>A	ENST00000261584.4	-	4	1402	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	417					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGCAATTGGACATGCTTCG	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					54	51					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832296	5832296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832296C>T	ENST00000318336.4	-	3	1477	c.283G>A	c.(283-285)Gac>Aac	p.D95N	FUT6_ENST00000527106.1_Missense_Mutation_p.D95N|FUT6_ENST00000592563.1_Missense_Mutation_p.D95N|FUT6_ENST00000524754.1_Missense_Mutation_p.D95N|FUT6_ENST00000286955.5_Missense_Mutation_p.D95N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	95					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTTGCGGTCGGCAGTGATG	0.632000													27	41					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77631174	77631174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77631174G>A	ENST00000407578.2	-	79	13650	c.13384C>T	c.(13384-13386)Cga>Tga	p.R4462*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R4424*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.R4424*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGCCATCGATTTTCTAAT	0.333000													46	62					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232551265G>A	ENST00000366630.1	-	18	5095	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_ENST00000262861.4_Silent_p.L1579L|SIPA1L2_ENST00000308942.4_Silent_p.L653L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L1579L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582000													8	55					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196544795	196544795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196544795G>A	ENST00000409086.3	+	2	304	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.C10Y	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACAAAATTTTGCCTCATTTGT	0.368000													4	53					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062244	242062244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242062244T>G	ENST00000403638.3	-	12	3066	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A	PASK_ENST00000405260.1_Missense_Mutation_p.E992A|PASK_ENST00000539818.1_Missense_Mutation_p.E776A|PASK_ENST00000544142.1_Missense_Mutation_p.E806A|PASK_ENST00000358649.4_Missense_Mutation_p.E992A|PASK_ENST00000234040.4_Missense_Mutation_p.E992A	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	992					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTACTCGCCCTCACAGGCCGC	0.587000													5	42					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151749600	151749600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151749600C>A	ENST00000535741.1	-	30	5376	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	LRBA_ENST00000357115.3_Missense_Mutation_p.D1635Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D1635Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1635						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATTGCATCTGGGCCTGCA	0.483000													95	115					1.55521e-42	2.099e-42	1	1	0
NSD1	64324	broad.mit.edu	37	5	176722240	176722240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176722240C>A	ENST00000439151.2	+	23	7916	c.7871C>A	c.(7870-7872)cCc>cAc	p.P2624H	NSD1_ENST00000347982.4_Missense_Mutation_p.P2355H|NSD1_ENST00000361032.4_Missense_Mutation_p.P2521H|NSD1_ENST00000354179.4_Missense_Mutation_p.P2355H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2624					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGCAAAGTCCCTGGGCCCTG	0.587000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			7	49					0.00198382	0.00210581	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41038566	41038566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41038566C>T	ENST00000352632.3	+	19	4069	c.3983C>T	c.(3982-3984)gCg>gTg	p.A1328V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A71V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A4V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1328V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1328					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A1328V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCTGATGGCGCGGGATGGC	0.612000													17	43					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791321	95791321	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95791321T>C	ENST00000260766.3	+	2	1152	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLCE1_ENST00000371380.2_Missense_Mutation_p.I173T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	173					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTGATCATAGAGACAGGC	0.433000													21	70					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959988	73959988	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73959988C>A	ENST00000373468.1	-	3	5055	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1468D			Q5QGS0	K2022_HUMAN	KIAA2022	1468					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTGTTCTCGCTCCATGTGCT	0.473000													26	41					7.33532e-06	8.36534e-06	1	1	0
FAR1	84188	broad.mit.edu	37	11	13743357	13743357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13743357C>T	ENST00000532502.1	+	1	1908	c.80C>T	c.(79-81)aCt>aTt	p.T27I	FAR1_ENST00000354817.3_Missense_Mutation_p.T403I			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	403					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294000													20	31					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196884207	196884207	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196884207T>A	ENST00000367416.2	+	9	1613	c.1476T>A	c.(1474-1476)ctT>ctA	p.L492L	CFHR4_ENST00000251424.4_Silent_p.L246L|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.L246L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACTATGAACTTCAGGGTTCTA	0.413000													20	170					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599751	116599751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116599751G>T	ENST00000395715.3	-	5	2754	c.2177C>A	c.(2176-2178)aCt>aAt	p.T726N	TRPS1_ENST00000220888.5_Missense_Mutation_p.T713N|TRPS1_ENST00000520276.1_Missense_Mutation_p.T717N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T467N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T713N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	713	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGTGAACAGTGTTGAAGTG	0.502000									Langer-Giedion syndrome				11	83					4.68919e-08	5.58064e-08	1	1	0
SUFU	51684	broad.mit.edu	37	10	104386977	104386977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104386977G>A	ENST00000369902.3	+	11	1508	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	448					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGAGGATTTAGAAGATTTGAC	0.423000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				53	106					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897934	130897934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130897934C>T	ENST00000392984.3	-	4	1743	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CCDC74B_ENST00000409943.3_Missense_Mutation_p.A166T|CCDC74B_ENST00000310463.6_Missense_Mutation_p.A232T			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	232										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GAGGCCTCTGCTTTCTCCTTT	0.637000													42	64					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71939482	71939482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71939482C>A	ENST00000298229.2	+	3	541	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	113	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTGTGCGCCCTGCTTCTTCC	0.672000													14	66					1.3612e-06	1.57881e-06	1	1	0
PROM2	150696	broad.mit.edu	37	2	95944853	95944853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95944853G>A	ENST00000317620.9	+	10	1368	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PROM2_ENST00000317668.4_Missense_Mutation_p.R412H|PROM2_ENST00000403131.2_Missense_Mutation_p.R412H|PROM2_ENST00000542147.1_Missense_Mutation_p.R412H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGAGCAGCCGCCCCTACCTG	0.682000													8	10					0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50892641	50892641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50892641C>T	ENST00000013125.4	-	30	2699	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	794	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGACTTGAAGCTTTTACCCTG	0.403000													9	12					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135750301	135750301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135750301C>T	ENST00000250617.6	-	22	3423	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E613K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E586K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	740					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCTTCCAGGCATTGC	0.473000													37	97					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140475165	140475165	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475165C>T	ENST00000194155.4	+	1	939	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		264	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCT	0.468000													28	57					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7311772	7311772	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7311772C>T	ENST00000302926.2	+	1	271	c.198C>T	c.(196-198)gtC>gtT	p.V66V	NLGN2_ENST00000572893.1_Intron|NLGN2_ENST00000575301.1_Silent_p.V66V	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	66					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCCCGTCGTGCAGTTCT	0.746000													3	2					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75887029	75887029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75887029C>T	ENST00000377636.3	-	13	2574	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	TBC1D4_ENST00000377625.2_Missense_Mutation_p.G680E|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G735E|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	743	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCCCTTCTCCATCACTGTT	0.488000													7	23					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197678	71197678	+	Missense_Mutation	SNP	G	G	A	rs141750466	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71197678G>A	ENST00000299886.4	+	7	1792	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	571					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567000													30	45					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55590426	55590426	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55590426G>A	ENST00000201647.6	+	4	173		c.e4+1		EPS8L1_ENST00000592824.1_Splice_Site|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1							cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCAGTCAATGTGAGTCTGGG	0.557000													17	28					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887975	27887975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887975G>T	ENST00000326019.6	+	2	1116	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	278						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGGGACCAGAGGAAGACCGAG	0.453000													25	60					3.01185e-09	3.6461e-09	1	1	0
JAM3	83700	broad.mit.edu	37	11	134009793	134009793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134009793G>T	ENST00000299106.4	+	2	283	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	JAM3_ENST00000529443.2_Missense_Mutation_p.V87L|JAM3_ENST00000441717.3_Missense_Mutation_p.V42L|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	42	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCGAACCCCAGTGGTACAGGA	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29					3.51602e-12	4.4132e-12	1	1	0
CDKL4	344387	broad.mit.edu	37	2	39440541	39440541	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440541G>A	ENST00000378803.1	-	3	362	c.363_splice	c.e3+1	p.N121_splice	CDKL4_ENST00000395035.3_Splice_Site_p.N121_splice	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	121	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGTTACTTACGTTATGTATAT	0.328000													25	32					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48605530C>T	ENST00000328333.8	-	105	7975	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537000													19	44					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161853	29161853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29161853G>A	ENST00000321990.4	+	2	1132	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	252					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGATAACGTAACTGAAGC	0.348000													27	71					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174505	11174505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174505C>A	ENST00000390673.2	-	1	714	c.666G>T	c.(664-666)aaG>aaT	p.K222N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTATATGGACCTTGGTGCTGG	0.403000													7	167					0.00198382	0.00210581	1	1	0
NKRF	55922	broad.mit.edu	37	X	118724034	118724034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118724034C>T	ENST00000371527.1	-	2	2006	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423000													57	65					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55526304	55526304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55526304G>A	ENST00000310373.3	-	8	1036	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	GP6_ENST00000333884.2_Silent_p.R317R|GP6_ENST00000417454.1_Silent_p.R335R|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AACATAACCCGCGGCTGTGAA	0.642000													10	17					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166109	19166109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19166109G>A	ENST00000375371.3	-	6	2525	c.2504C>T	c.(2503-2505)aCc>aTc	p.T835I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	835					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTCCTCATGGTGTAGCCCTG	0.622000													6	13					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6478090	6478090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6478090C>T	ENST00000525074.1	-	6	1260	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	289					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667000													25	60					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	464374	464374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373000			T	NUP98	AML								25	50					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5046882	5046882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5046882G>A	ENST00000251170.7	+	8	987	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACATCCTTCGGTTCCTGCGGG	0.542000													14	18					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64674212	64674212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64674212C>T	ENST00000421419.2	-	20	3022	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	ATG2A_ENST00000377264.3_Missense_Mutation_p.V970I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	970							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACTGGGAGACGCTGAAGAGG	0.622000													10	47					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22142596	22142596	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22142596T>G	ENST00000389398.5	+	18	1819	c.1723T>G	c.(1723-1725)Tgg>Ggg	p.W575G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	575	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAAAGTGCCTGGCGGTAGGT	0.493000													14	19					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72265893	72265893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72265893G>T	ENST00000550746.1	+	2	138	c.74G>T	c.(73-75)gGa>gTa	p.G25V	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G33V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G25V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	25							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATCTTGTGGAAAGACCAAT	0.274000													7	72					0.000157383	0.00017284	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6541320	6541320	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541320C>A	ENST00000254579.6	+	9	2337	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	DNHD1_ENST00000354685.3_Silent_p.T591T|DNHD1_ENST00000527990.2_Silent_p.T591T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	591					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCAAGACCTCTGCCTTGC	0.478000													11	65					4.68919e-08	5.58064e-08	1	1	0
STK11	6794	broad.mit.edu	37	19	1220378	1220378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1220378C>T	ENST00000326873.7	+	4	1644	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	157	Protein kinase.		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTACTTCTGTCAGCTGA	0.642000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	2					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248810	20248810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248810C>T	ENST00000315957.4	+	1	410	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478000													80	217					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348185	7348185	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:7348185G>A	ENST00000486284.1	+	4	1153	c.878_splice	c.e4-1	p.K293_splice	GRM7_ENST00000402647.2_Splice_Site_p.K293_splice|GRM7_ENST00000403881.1_Splice_Site_p.K293_splice|GRM7_ENST00000389336.4_Splice_Site_p.K293_splice|GRM7_ENST00000357716.4_Splice_Site_p.K293_splice	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	293					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTTCCACAGGCAGATCCTTG	0.438000													28	48					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429437	4429437	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4429437A>G	ENST00000301280.5	+	9	1708	c.1607A>G	c.(1606-1608)gAt>gGt	p.D536G		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	536					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGTGATGTCGTCATC	0.572000								Chromatin Structure					13	31					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312394	25312394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25312394G>A	ENST00000524413.1	+	3	589	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C81Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	81					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAACTAGGTTGTTGTGTCATA	0.388000													32	80					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376213	18376213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376213G>T	ENST00000392413.3	-	3	2352	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	KIAA1683_ENST00000600359.2_Missense_Mutation_p.L667M|KIAA1683_ENST00000600328.2_Missense_Mutation_p.L713M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	713						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTTGCTCAGACAGGTGTCC	0.627000													22	31					1.55795e-14	1.98882e-14	1	1	0
FOXRED1	55572	broad.mit.edu	37	11	126145996	126145996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145996G>A	ENST00000263578.5	+	8	927	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FOXRED1_ENST00000532125.1_Missense_Mutation_p.A271T|FOXRED1_ENST00000442061.2_Missense_Mutation_p.A115T|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	285						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGTGGAATGCGCCATTGTGAT	0.642000													9	27					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202866077	202866077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202866077C>T	ENST00000367261.3	-	7	1062	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KLHL12_ENST00000367259.1_Missense_Mutation_p.V15M|KLHL12_ENST00000435533.3_Missense_Mutation_p.V320M	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	282					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCAAAAGCACTTCATTGGCT	0.468000													18	220					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122709222	122709222	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122709222C>T	ENST00000464942.2	-	0	1387				DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000443649.3_Intron|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000267169.6_De_novo_Start_OutOfFrame|DIABLO_ENST00000413918.1_Intron	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein						activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCATAAGGCACGACCGCCAAT	0.458000													13	31					0	0	1	0	0
MPDU1	9526	broad.mit.edu	37	17	7490863	7490863	+	Silent	SNP	G	G	A	rs148905577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7490863G>A	ENST00000250124.6	+	7	954	c.738G>A	c.(736-738)gcG>gcA	p.A246A	MPDU1_ENST00000423172.2_Intron|MPDU1_ENST00000396501.4_3'UTR	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	246					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGAAAAAGGCGCAGTAGAGCC	0.562000													18	29					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14471491	14471491	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14471491A>G	ENST00000344204.4	+	38	5852	c.5828A>G	c.(5827-5829)aAc>aGc	p.N1943S	TRIO_ENST00000537187.1_Missense_Mutation_p.N1943S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1943					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCCTTCAACCCTTCGGAT	0.463000													8	24					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73101671	73101671	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73101671G>A	ENST00000064780.2	+	3	381		c.e3+1		RELT_ENST00000393580.2_Splice_Site	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCCGACCTGGTGAGCATTGC	0.647000													17	40					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436384	24436384	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436384C>A	ENST00000383168.4	-	5	891	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	AQP4_ENST00000440832.3_Missense_Mutation_p.D233Y|AQP4_ENST00000581374.1_Missense_Mutation_p.D233Y|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	255					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTCAACATCTGGACAGAAG	0.458000													26	106					2.79863e-10	3.44159e-10	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112667602	112667602	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667602C>A	ENST00000550722.1	-	41	6376	c.5981G>T	c.(5980-5982)aGg>aTg	p.R1994M	HECTD4_ENST00000430131.2_Missense_Mutation_p.R1718M|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1968M	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGCAAGTTTCCTGCCACTGCT	0.483000													6	58					0.00116845	0.00124821	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110861234	110861234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110861234G>A	ENST00000375820.4	-	12	776	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q219*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	219	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCCATTTGTCCCTGTGGA	0.388000													10	135					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499620	129499620	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129499620C>A	ENST00000218197.5	+	8	1052	c.825C>A	c.(823-825)ctC>ctA	p.L275L	SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.L303L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L272L	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	275					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGTGGATCTCTATAAGGGCA	0.453000													76	139					5.78891e-16	7.45033e-16	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121415041	121415041	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121415041A>G	ENST00000393667.3	-	13	4439	c.4329T>C	c.(4327-4329)gcT>gcC	p.A1443A	GOLGB1_ENST00000340645.5_Silent_p.A1438A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1438					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTATGCAGAGCCTTAATTA	0.388000													56	128					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300406	88300406	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88300406G>T	ENST00000418177.2	-	8	2812	c.2445C>A	c.(2443-2445)ggC>ggA	p.G815G	GRM5_ENST00000305447.4_Silent_p.G815G|GRM5_ENST00000305432.5_Silent_p.G815G|GRM5_ENST00000455756.2_Silent_p.G815G|GRM5_ENST00000393297.1_Silent_p.G815G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	815					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAAACATGCAGCCTAGGGCCA	0.522000													4	74					0.000602214	0.000649039	1	1	0
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105929784C>T	ENST00000526793.1	-	2	200	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531482.2_Missense_Mutation_p.R14Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328000													9	27					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949590	40949590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40949590G>T	ENST00000346991.5	+	25	7100	c.6710G>T	c.(6709-6711)aGa>aTa	p.R2237I	CASC5_ENST00000399668.2_Missense_Mutation_p.R2211I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2237	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACCATTGCAGACTCCTTGGA	0.343000													39	71					2.20914e-33	2.96736e-33	1	1	0
NUCB2	4925	broad.mit.edu	37	11	17317743	17317743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17317743C>T	ENST00000529010.1	+	4	456	c.237C>T	c.(235-237)gaC>gaT	p.D79D	NUCB2_ENST00000458064.2_Silent_p.D79D|NUCB2_ENST00000323688.6_Silent_p.D79D	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	79						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAAGCAGACATAGAGGAAA	0.308000													5	40					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776887	18776887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18776887C>T	ENST00000380548.4	+	19	2999	c.2660C>T	c.(2659-2661)gCc>gTc	p.A887V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	887	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGCTTCGCCTACCTGCTC	0.677000													6	12					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88957479	88957479	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88957479C>A	ENST00000237596.2	+	3	883	c.817C>A	c.(817-819)Ctg>Atg	p.L273M		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	273						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTTAAAACTCTGTCTTCCAT	0.413000													19	49					5.35267e-07	6.25286e-07	1	1	0
KIAA0930	23313	broad.mit.edu	37	22	45599002	45599002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45599002C>T	ENST00000336156.4	-	7	786	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KIAA0930_ENST00000391627.2_Missense_Mutation_p.E207K|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E246K|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E223K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	241							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CGCACAAACTCCATGTTGCTG	0.637000													8	161					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71729310	71729310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71729310G>A	ENST00000393695.3	-	12	1228	c.897C>T	c.(895-897)tgC>tgT	p.C299C	NUMA1_ENST00000351960.6_Silent_p.C299C|NUMA1_ENST00000358965.6_Silent_p.C299C|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	299					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGGTCCTGGCACTGCTTCA	0.552000			T	RARA	APL								4	60					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160873	123160873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123160873T>C	ENST00000264501.4	+	29	4409	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346P|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346P|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGATGTCTCTCGAAGTGA	0.433000													5	74					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921563	78921563	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78921563G>T	ENST00000261751.3	-	5	1195	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	362					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GACTTGCTGGGCGGGAAGGCT	0.637000													8	30					0.000442599	0.00048047	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100190525	100190525	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100190525C>A	ENST00000241071.6	+	5	1000	c.678C>A	c.(676-678)gtC>gtA	p.V226V	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.V264V|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Silent_p.V212V|FBXO24_ENST00000465843.1_Silent_p.V212V|FBXO24_ENST00000468962.1_Silent_p.V214V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGAGGTCTATCTGCAGT	0.567000													18	52					9.16793e-09	1.10245e-08	1	1	0
KITLG	4254	broad.mit.edu	37	12	88910194	88910194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88910194C>A	ENST00000347404.5	-	5	1009	c.437G>T	c.(436-438)aGa>aTa	p.R146I	KITLG_ENST00000228280.5_Missense_Mutation_p.R146I|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	146					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCAATGGATCTATTAAAAAT	0.348000									Testicular Cancer, Familial Clustering of				41	71					4.32679e-17	5.60236e-17	1	1	0
ACOX2	8309	broad.mit.edu	37	3	58510329	58510329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58510329G>T	ENST00000302819.5	-	11	1641	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	ACOX2_ENST00000459701.2_Missense_Mutation_p.F436L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	450					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTTCACCAGGAACCTGGGGG	0.592000													16	19					1.5739e-10	1.9432e-10	1	1	0
POLR3A	11128	broad.mit.edu	37	10	79753080	79753080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79753080G>T	ENST00000372371.3	-	20	2799	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	888					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGGACTGTCAGATCATACTGG	0.448000													7	63					1.6384e-10	2.02096e-10	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154525057	154525057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154525057G>A	ENST00000409959.3	+	25	2942	c.2893G>A	c.(2893-2895)Gca>Aca	p.A965T	KIAA0922_ENST00000409663.3_Missense_Mutation_p.A964T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A881T	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	964						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGAATGCTGCAAAGAGGAG	0.498000													5	29					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48707780	48707780	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48707780G>A	ENST00000316623.5	-	64	8459	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2668	EGF-like 47; calcium-binding.		G -> C (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2668G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTAACCGCCCTCGGTAT	0.522000													25	53					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001097	27001097	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27001097C>T	ENST00000344420.5	+	6	896	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SLC35F6_ENST00000416475.2_Silent_p.F195F|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		TCTTCAACTTCGCAGGCATCA	0.612000													22	31					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6091141	6091141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6091141C>A	ENST00000261405.5	-	42	7352	c.7098G>T	c.(7096-7098)gaG>gaT	p.E2366D		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2366					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTTTGCACTCCTCCTTCC	0.597000													16	27					2.32078e-09	2.82054e-09	1	1	0
CEP170	9859	broad.mit.edu	37	1	243327909	243327909	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327909T>G	ENST00000366542.1	-	13	3404	c.3353A>C	c.(3352-3354)gAt>gCt	p.D1118A	CEP170_ENST00000366544.1_Missense_Mutation_p.D1020A|CEP170_ENST00000366543.1_Missense_Mutation_p.D1020A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1118	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGTCAGCATCAGCAAGTTC	0.473000													7	44					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66481846	66481846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66481846C>A	ENST00000256447.4	-	2	248		c.e2-1			NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule						inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCTTCTTTctgatgggaga	0.313000													26	43					3.01185e-09	3.6461e-09	1	1	0
USP34	9736	broad.mit.edu	37	2	61441712	61441712	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441712A>G	ENST00000398571.2	-	68	8241	c.8165T>C	c.(8164-8166)gTa>gCa	p.V2722A	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2722					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTAGGACTACTGTTGTGTC	0.478000													38	48					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52397956	52397956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397956G>A	ENST00000396954.3	-	4	874	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_Intron	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACCACAGAGCGGAGAAATCAC	0.358000													6	27					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57247814	57247814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57247814G>T	ENST00000537866.1	+	6	1531	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G220C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	220						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGCAAGTATAGGTTTACTTAG	0.338000													12	105					7.93312e-07	9.21973e-07	1	1	0
GPR158	57512	broad.mit.edu	37	10	25510037	25510037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25510037G>T	ENST00000376351.3	+	2	1318	c.959G>T	c.(958-960)aGt>aTt	p.S320I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATGCTCAAGTGATGGCTGG	0.343000													7	56					5.18039e-06	5.91835e-06	1	1	0
C3	718	broad.mit.edu	37	19	6718263	6718263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6718263G>A	ENST00000245907.6	-	3	520	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	143					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCACCTGTGGAGCCAGGGGT	0.642000													5	19					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536622	87536622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536622C>T	ENST00000265728.1	+	12	1673	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	390					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAGATGATACAACAGTGAAG	0.403000													15	143					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942885	8942885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8942885T>C	ENST00000326053.5	-	6	1488	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	461										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTGTTCCACTGACATATTGC	0.532000													43	57					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26580872	26580872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26580872T>C	ENST00000381340.3	-	49	7335	c.6919A>G	c.(6919-6921)Aca>Gca	p.T2307A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2307					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTATTAATGTAGGCCCAAGA	0.333000													18	33					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140474	56140474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56140474G>A	ENST00000319441.4	+	10	1647	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	PCK1_ENST00000543666.1_Missense_Mutation_p.A178T|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	495					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAAATACCTGGCCCACTGGCT	0.512000													29	29					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71339760	71339760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71339760G>A	ENST00000413702.1	+	3	310	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000304887.5_Missense_Mutation_p.V8M|MUC7_ENST00000456088.1_Missense_Mutation_p.V8M	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	8						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCGCTGTTTGTGTGCATCTG	0.398000													21	81					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10906768	10906768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10906768G>A	ENST00000359692.6	+	10	1378	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_ENST00000408974.4_Intron|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000355667.6_Missense_Mutation_p.E410K	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	410					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.E410K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512000			"""F, N, Splice, Mis, O"""		ETP ALL								14	140					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25147375	25147375	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25147375G>T	ENST00000332271.5	-	9	1484	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	PIWIL3_ENST00000533313.1_Silent_p.T247T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.T247T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	356	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTATATAGGTGATTTTGC	0.313000													14	204					2.61681e-11	3.25769e-11	1	1	0
CR2	1380	broad.mit.edu	37	1	207643049	207643049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207643049G>A	ENST00000367057.3	+	6	1016	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.C276Y|CR2_ENST00000367058.3_Missense_Mutation_p.C276Y|CR2_ENST00000458541.2_Missense_Mutation_p.C276Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	276	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAATTTTTTGCCCATCACCT	0.428000													13	75					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100751	93100751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93100751C>T	ENST00000544406.2	+	2	610	c.344C>T	c.(343-345)gCc>gTc	p.A115V	C12orf74_ENST00000397833.3_Missense_Mutation_p.A115V			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	115										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGAAAGGGCCCTGAATGCA	0.547000													23	48					0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594505	148594505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148594505G>T	ENST00000442702.2	+	21	2945	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	NBPF15_ENST00000369187.3_Missense_Mutation_p.Q626H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	626	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					ACTCATTCCAGCACTACAGAA	0.448000													171	293					2.65309e-104	3.59382e-104	1	1	0
ROS1	6098	broad.mit.edu	37	6	117681540	117681540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117681540C>T	ENST00000368508.3	-	22	3608	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1132E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1137	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCATATGGTCCTGGCCCCTT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	47					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698114	34698114	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34698114G>T	ENST00000360581.1	+	1	218	c.90G>T	c.(88-90)gtG>gtT	p.V30V	NPSR1_ENST00000381542.1_Silent_p.V30V|NPSR1_ENST00000381553.3_Silent_p.V30V|NPSR1_ENST00000465305.1_Silent_p.V30V|NPSR1_ENST00000531252.1_Silent_p.V30V|NPSR1_ENST00000381539.3_Silent_p.V30V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Silent_p.V30V|AC005493.1_ENST00000399077.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	30						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAAACAGTGACTTTTACTG	0.507000													6	80					0.0215528	0.0221649	1	1	0
PARP2	10038	broad.mit.edu	37	14	20824784	20824784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824784G>T	ENST00000527915.1	+	13	1309	c.1304G>T	c.(1303-1305)tGg>tTg	p.W435L	PARP2_ENST00000429687.3_Missense_Mutation_p.W422L|PARP2_ENST00000250416.5_Missense_Mutation_p.W435L			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	435	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAGTAACTGGGTGGGAATC	0.468000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					15	226					1.15088e-07	1.35723e-07	1	1	0
USP9X	8239	broad.mit.edu	37	X	41048719	41048719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048719G>A	ENST00000324545.7	+	26	4601	c.3968G>A	c.(3967-3969)tGt>tAt	p.C1323Y	USP9X_ENST00000378308.2_Missense_Mutation_p.C1323Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1323					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATTGCACTGTCACAGCAAG	0.338000													22	40					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399540	107399540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399540C>T	ENST00000440859.2	+	6	1860	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	CBLL1_ENST00000222597.2_Nonsense_Mutation_p.R464*	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	465	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCACCTCCACGATTGCAGGG	0.488000													13	119					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595899	31595899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31595899G>A	ENST00000376033.2	+	12	1882	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A550T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	550	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAAGAGCCAGCACAGGCCCC	0.612000													31	30					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197708653	197708653	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197708653T>C	ENST00000354764.3	-	25	2598	c.2484A>G	c.(2482-2484)ttA>ttG	p.L828L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	828					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCATGCTGAGTAATACAATCC	0.348000													3	53					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17147575	17147575	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17147575C>A	ENST00000377833.4	-	11	1177		c.e11-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAAGGAACCTGTTCAGAAA	0.453000													9	18					2.17888e-05	2.45068e-05	1	1	0
FAM216A	29902	broad.mit.edu	37	12	110927873	110927873	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110927873A>C	ENST00000377673.5	+	7	1265	c.753A>C	c.(751-753)gaA>gaC	p.E251D		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	251																	AAAAGGAAGAAGATTTACTAA	0.318000													9	75					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383757	235383757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235383757C>T	ENST00000264183.3	-	15	1764	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	ARID4B_ENST00000366603.2_Missense_Mutation_p.V423I|ARID4B_ENST00000349213.3_Missense_Mutation_p.V423I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	423	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTCTTTTACATTTTCACAC	0.343000													6	55					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896548	896548	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896548C>T	ENST00000381922.3	-	1	412		c.e1+1		ANGPT4_ENST00000546022.1_Splice_Site	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4						anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ATGCCCCGTACCTTCTTCAGC	0.597000													48	49					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316186	1316186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1316186G>A	ENST00000303400.4	+	4	537	c.474G>A	c.(472-474)gaG>gaA	p.E158E	MAEA_ENST00000510794.1_Silent_p.E157E|MAEA_ENST00000505177.2_Silent_p.E158E|MAEA_ENST00000505839.1_Silent_p.E110E|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Silent_p.E79E|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	158					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGAATATTGAGATGTTCCTGA	0.597000													51	83					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38546236	38546236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38546236G>A	ENST00000423485.1	-	34	4606	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1483					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418000													11	12					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88811627	88811627	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811627G>A	ENST00000277865.4	-	13	1654	c.1557_splice	c.e13-1	p.Q520_splice	GLUD1_ENST00000537649.1_Splice_Site_p.Q353_splice|GLUD1_ENST00000544149.1_Splice_Site_p.Q387_splice	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	520					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CGCATAATTTGCTGAAATGAA	0.458000													4	76					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672000													6	24					1.26484e-09	1.54084e-09	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15973653	15973653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15973653G>T	ENST00000268712.3	-	31	4596	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	NCOR1_ENST00000395851.1_Silent_p.R1463R|NCOR1_ENST00000395857.3_Silent_p.R31R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGTGCCGGGAACGCACG	0.532000													46	69					8.01111e-26	1.06612e-25	1	1	0
TENM2	57451	broad.mit.edu	37	5	167674983	167674983	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674983T>C	ENST00000519204.1	+	26	6794	c.6676T>C	c.(6676-6678)Tac>Cac	p.Y2226H	TENM2_ENST00000520394.1_Missense_Mutation_p.Y2108H|TENM2_ENST00000403607.2_Missense_Mutation_p.Y2171H|TENM2_ENST00000518659.1_Missense_Mutation_p.Y2347H|TENM2_ENST00000545108.1_Missense_Mutation_p.Y2346H					teneurin transmembrane protein 2																		TACCTCACTGTACTACGACCT	0.552000													24	51					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262119	46262119	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46262119A>C	ENST00000336915.6	-	7	602	c.533T>G	c.(532-534)tTt>tGt	p.F178C	SKAP1_ENST00000584924.1_Missense_Mutation_p.F178C	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	178	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGTCAGTTCAAAGCAGGATTC	0.522000													60	96					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413915	139413915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139413915C>T	ENST00000277541.6	-	5	920	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	282	EGF-like 7; calcium-binding (Potential).			R -> P (in Ref. 1; AAG33848 and 3; AAA60614).	aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCGGGCAGCGGCAGTTGTA	0.607000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	44					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803455	20803455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:20803455C>A	ENST00000359062.3	+	14	2886	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	949	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATAAAGTTGGCTGATATCAAT	0.333000													34	52					1.836e-18	2.39396e-18	1	1	0
ULBP2	80328	broad.mit.edu	37	6	150267536	150267536	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150267536T>C	ENST00000367351.3	+	3	451	c.378T>C	c.(376-378)tcT>tcC	p.S126S		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	126	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGGATGTCTTGTGAGCAGA	0.498000													10	92					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739838	129739838	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129739838A>G	ENST00000446488.3	-	23	3185	c.3082T>C	c.(3082-3084)Tca>Cca	p.S1028P	NFRKB_ENST00000524794.1_Missense_Mutation_p.S1053P|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1028P|NFRKB_ENST00000524746.1_Missense_Mutation_p.S1028P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1028					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCACTGGCTGAACTGGCCTTG	0.537000													13	51					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99272007	99272007	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99272007C>A	ENST00000375241.1	-	13	1859	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.G433C|CDC14B_ENST00000375240.3_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	470					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTAGTAATGCCTGCACTGCCA	0.358000													5	113					0.184627	0.186383	1	1	0
HAX1	10456	broad.mit.edu	37	1	154245846	154245846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154245846G>T	ENST00000328703.7	+	2	301	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.D30Y	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	30	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGACTCGAGATGAAGATGA	0.493000									Kostmann syndrome				29	65					2.08973e-25	2.77883e-25	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33146457	33146457	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33146457C>A	ENST00000341947.2	-	18	1945	c.1719_splice	c.e18+1	p.R573_splice	COL11A2_ENST00000374714.1_Splice_Site_p.R547_splice|COL11A2_ENST00000374712.1_Splice_Site_p.R492_splice|COL11A2_ENST00000357486.1_Splice_Site_p.R552_splice|COL11A2_ENST00000374713.1_Splice_Site_p.R526_splice|COL11A2_ENST00000395197.1_Splice_Site_p.R513_splice|COL11A2_ENST00000374708.4_Splice_Site_p.R487_splice|COL11A2_ENST00000361917.1_Splice_Site_p.R466_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	573	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTACTCACCCTATGGCCCTT	0.557000													13	179					0.000151284	0.000166931	1	1	0
KLK5	25818	broad.mit.edu	37	19	51452340	51452340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51452340G>T	ENST00000336334.3	-	4	719	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	KLK5_ENST00000593428.1_Missense_Mutation_p.L123M|KLK5_ENST00000391809.2_Missense_Mutation_p.L123M	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	123	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACTGGTGACAGGGAGTAGTGG	0.562000													22	76					5.35356e-11	6.64197e-11	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544670A>C	ENST00000356183.4	-	5	806	c.791T>G	c.(790-792)gTc>gGc	p.V264G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522000													11	63					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85688435	85688435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85688435G>T	ENST00000253458.7	+	5	811	c.635G>T	c.(634-636)aGt>aTt	p.S212I	GSE1_ENST00000393243.1_Missense_Mutation_p.S139I|GSE1_ENST00000405402.2_Missense_Mutation_p.S108I	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GTGCCCCCCAGTACCGTGACC	0.682000													8	10					0.00621372	0.00652201	1	1	0
DSG4	147409	broad.mit.edu	37	18	28993015	28993015	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28993015T>G	ENST00000359747.4	+	15	2666	c.2637T>G	c.(2635-2637)gcT>gcG	p.A879A	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.A860A|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	860					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACACCAGGCTTGTATACCAA	0.388000													27	111					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073159	220073159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220073159G>A	ENST00000409097.1	+	7	596	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R180Q			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	180						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAACCCGATCTCCGTCC	0.562000													20	54					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39893657	39893657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39893657C>A	ENST00000564288.1	+	63	17278	c.16501C>A	c.(16501-16503)Cat>Aat	p.H5501N	MACF1_ENST00000545844.1_Missense_Mutation_p.H3439N|MACF1_ENST00000289893.4_Missense_Mutation_p.H3941N|MACF1_ENST00000567887.1_Missense_Mutation_p.H5538N|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.H3439N|MACF1_ENST00000361689.2_Missense_Mutation_p.H3439N|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGAAAACCATGCAACAGA	0.398000													4	24					0.248553	0.25002	1	1	0
TINAG	27283	broad.mit.edu	37	6	54208113	54208113	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208113A>C	ENST00000259782.4	+	5	810	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	238					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGATCAAAAAAATTGTGCTG	0.388000													26	43					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140355145	140355145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140355145C>T	ENST00000406427.1	-	34	4222	c.3886G>A	c.(3886-3888)Gtc>Atc	p.V1296I	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.V877I|PNPLA7_ENST00000277531.4_Missense_Mutation_p.V1271I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCCTGGGGACGTCCAGCAGC	0.632000													4	43					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219754749	219754749	+	Silent	SNP	C	C	T	rs148979463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219754749C>T	ENST00000258411.3	+	3	1053	c.420C>T	c.(418-420)ggC>ggT	p.G140G	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	140					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCTGGCGTGGTGCACG	0.617000													4	58					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113751159	113751159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113751159G>A	ENST00000375601.3	+	30	3703	c.3376G>A	c.(3376-3378)Gac>Aac	p.D1126N	MCF2L_ENST00000375608.3_3'UTR|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000535094.2_Missense_Mutation_p.D1122N|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1179N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1120N			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCTTCTCCGACCTGCAGGG	0.771000													4	4					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61952287	61952287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61952287G>A	ENST00000332981.5	+	10	1731	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	PRKCH_ENST00000555082.1_Missense_Mutation_p.R288H	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	449	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGAAGTCTCGTCGTTTTGAT	0.443000													94	136					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663407	86663407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86663407C>T	ENST00000531380.1	-	2	696	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	131	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTTCAGGACGGGTTCACAG	0.517000													15	148					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78383351	78383351	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78383351A>G	ENST00000278550.7	-	31	5982	c.5520T>C	c.(5518-5520)tcT>tcC	p.S1840S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAAAGTCCAGAGATAGGAGAT	0.512000													15	51					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908442	103908442	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103908442A>T	ENST00000302259.3	+	1	1135	c.892A>T	c.(892-894)Att>Ttt	p.I298F	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	298					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACACAGAGAATTATTGGCCG	0.488000													7	53					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206626618	206626618	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206626618A>C	ENST00000414007.1	+	16	1832	c.1832A>C	c.(1831-1833)aAg>aCg	p.K611T	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.K56T			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	751	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTTTAAGAAGGGAGCATCC	0.567000													9	9					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6312716	6312716	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6312716C>A	ENST00000344683.5	+	9	1954	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	626						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CATGTGACGGCTTTAAGGACC	0.348000													13	97					0.0242445	0.0249276	1	1	0
ZBTB7B	51043	broad.mit.edu	37	1	154988695	154988695	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154988695G>T	ENST00000368426.3	+	4	1291		c.e4-1		ZBTB7B_ENST00000535420.1_Splice_Site|ZBTB7B_ENST00000417934.2_Splice_Site|ZBTB7B_ENST00000292176.2_Splice_Site	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTGTGCCAGGAACGACAAG	0.637000													11	42					1.67772e-17	2.17749e-17	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46393986	46393986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46393986G>T	ENST00000454345.1	+	12	1625	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	500	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGCAAAGATCATCCAGT	0.582000													20	27					1.96292e-10	2.41709e-10	1	1	0
TBC1D13	54662	broad.mit.edu	37	9	131559450	131559450	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131559450T>G	ENST00000372648.5	+	7	650	c.500T>G	c.(499-501)cTg>cGg	p.L167R	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.L167R	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGACAACACTGAAATCTCAG	0.527000													41	62					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296941	108296941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296941A>C	ENST00000520734.1	-	6	859	c.574T>G	c.(574-576)Ttc>Gtc	p.F192V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.F191V			Q15389	ANGP1_HUMAN	angiopoietin 1	392					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGGAATCTGTCATAC	0.388000													13	55					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983182	17983182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17983182G>A	ENST00000361221.3	+	25	2998	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A720T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A942T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A650T	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	947					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGGACCCTTGCTGCTTACCC	0.647000													4	44					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54031201	54031201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54031201G>A	ENST00000373980.4	+	11	1682	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	PRKG1_ENST00000401604.2_Missense_Mutation_p.R407H|PRKG1_ENST00000373985.1_Missense_Mutation_p.R395H|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R125H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	407	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGCACATCCGCTCAGAGAAG	0.463000													4	24					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92612769	92612769	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92612769A>G	ENST00000342818.3	+	8	1199	c.963A>G	c.(961-963)gaA>gaG	p.E321E	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	321						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTATACTAGAATGCCTGATTA	0.328000													11	134					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53687208	53687208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687208C>A	ENST00000257934.4	+	31	6404	c.6313C>A	c.(6313-6315)Ctt>Att	p.L2105I	ESPL1_ENST00000552462.1_Missense_Mutation_p.L2105I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2105					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTCAAGTATCTTATTGGGGC	0.552000													4	45					0.00909568	0.00947522	1	1	0
TRIM37	4591	broad.mit.edu	37	17	57093036	57093036	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57093036A>T	ENST00000376149.3	-	21	2954	c.2145T>A	c.(2143-2145)gcT>gcA	p.A715A	TRIM37_ENST00000262294.7_Silent_p.A837A|TRIM37_ENST00000393065.2_Silent_p.A803A|TRIM37_ENST00000393066.3_Silent_p.A837A			O94972	TRI37_HUMAN	tripartite motif containing 37	837						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAACCACAACAGCATCTGAAT	0.448000									Mulibrey Nanism				5	141					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135438839	135438839	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135438839G>T	ENST00000443774.1	-	4	653	c.604C>A	c.(604-606)Cca>Aca	p.P202T	FRG2B_ENST00000425520.1_Missense_Mutation_p.P201T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	201						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGGTAAGTGGAGAATGGATC	0.552000													22	46					2.89027e-11	3.59474e-11	1	1	0
IPO7	10527	broad.mit.edu	37	11	9451283	9451283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9451283G>T	ENST00000379719.3	+	15	1796	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	552					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTATAAGAGAAACAGAAAA	0.343000													22	30					8.04996e-18	1.04647e-17	1	1	0
TSPYL5	85453	broad.mit.edu	37	8	98289179	98289179	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98289179G>A	ENST00000322128.3	-	1	997	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478000													4	44					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638221	48638221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48638221C>A	ENST00000203407.5	-	9	1435	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	340					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGTCTGGAAACTCTGGCATAG	0.547000													4	51					0.00024832	0.0002712	1	1	0
FLNA	0	broad.mit.edu	37	X	153592534	153592534	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592534C>A	ENST00000422373.1	-	15	2385		c.e15-1		FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTGTCCTGTCAGGCAG	0.627000													7	96					0.000157383	0.00017284	1	1	0
SMPD3	55512	broad.mit.edu	37	16	68405102	68405102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68405102G>A	ENST00000219334.5	-	3	1586	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SMPD3_ENST00000563226.1_Missense_Mutation_p.S328L|SMPD3_ENST00000568373.1_Missense_Mutation_p.S328L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	328					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTCACCACCGAGGCCTTGTA	0.682000													12	19					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115276643	115276643	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115276643G>A	ENST00000438362.2	-	8	1194	c.816C>T	c.(814-816)ggC>ggT	p.G272G	CSDE1_ENST00000530886.1_Silent_p.G96G|CSDE1_ENST00000369530.1_Silent_p.G241G|CSDE1_ENST00000358528.4_Silent_p.G226G|CSDE1_ENST00000261443.5_Silent_p.G195G|CSDE1_ENST00000534699.1_Silent_p.G226G|CSDE1_ENST00000339438.6_Silent_p.G195G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	226					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358000													36	46					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66842453	66842453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66842453C>A	ENST00000379463.2	-	18	1475	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	NAE1_ENST00000394074.2_Missense_Mutation_p.R345I|NAE1_ENST00000290810.3_Missense_Mutation_p.R434I|NAE1_ENST00000359087.4_Missense_Mutation_p.R437I	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	434					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTATGAAATCTATCAACAGC	0.289000													71	80					2.05912e-35	2.77066e-35	1	1	0
EP400	57634	broad.mit.edu	37	12	132537755	132537755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132537755G>A	ENST00000333577.4	+	43	7676	c.7567G>A	c.(7567-7569)Gca>Aca	p.A2523T	EP400_ENST00000332482.4_Missense_Mutation_p.A2450T|EP400_ENST00000389561.2_Missense_Mutation_p.A2487T|EP400_ENST00000389562.2_Missense_Mutation_p.A2486T|EP400_ENST00000330386.6_Missense_Mutation_p.A2406T			Q96L91	EP400_HUMAN	E1A binding protein p400	2523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGCGAATCGCAAAAGAGAA	0.537000													28	46					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74066475	74066475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74066475C>A	ENST00000307877.2	-	2	396	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	SRP68_ENST00000539137.1_Missense_Mutation_p.D79Y|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	79					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTCTGAAAATCTCCATGCCGT	0.373000													5	22					0.00198382	0.00210581	1	1	0
UPK3A	7380	broad.mit.edu	37	22	45689190	45689190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45689190C>A	ENST00000216211.4	+	5	732	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	UPK3A_ENST00000396082.2_Missense_Mutation_p.L113I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	234					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCCCTCAGCCTCGTGTAAGT	0.627000													5	60					8.12818e-05	8.99451e-05	1	1	0
CRYGA	1418	broad.mit.edu	37	2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	rs139353014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498000													18	26					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284512	101284512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101284512A>G	ENST00000309922.6	+	2	1041	c.887A>G	c.(886-888)aAt>aGt	p.N296S		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GATTCTCCCAATGTTATGACT	0.373000													3	60					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9815238	9815238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9815238G>A	ENST00000377298.4	-	4	1166	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S125L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S115L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	125	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGTGAATGAATAGTCTTT	0.463000													9	155					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045619	35045619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35045619G>T	ENST00000312292.5	+	2	3040	c.2993G>T	c.(2992-2994)aGc>aTc	p.S998I	C9orf131_ENST00000421362.2_Missense_Mutation_p.S950I|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582000													33	41					9.17885e-22	1.20931e-21	1	1	0
TMEM138	51524	broad.mit.edu	37	11	61135448	61135448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61135448G>A	ENST00000278826.6	+	4	913	c.354G>A	c.(352-354)atG>atA	p.M118I	TMEM138_ENST00000381787.2_Missense_Mutation_p.M60I|TMEM138_ENST00000542946.1_3'UTR	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	118						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACTTCAAATGCTGTTTGTAT	0.478000													55	258					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750880	50750880	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750880A>G	ENST00000300589.2	+	6	2730	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	875					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTTCTTGGCATTGAGGTGAG	0.502000													10	106					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73982067	73982067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73982067C>T	ENST00000297354.6	-	4	854	c.650G>A	c.(649-651)tGt>tAt	p.C217Y	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	217					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										ATCTCCAGAACAACGAAGGCT	0.478000													14	26					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62484908	62484908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62484908G>A	ENST00000383710.4	-	18	2984	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	CADPS_ENST00000283269.9_Missense_Mutation_p.L896F|CADPS_ENST00000357948.3_Missense_Mutation_p.L856F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	879	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTATCTTCAAGCTTTTTGGCA	0.428000													21	25					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241177	126241177	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126241177A>C	ENST00000394329.3	+	1	3624	c.3611A>C	c.(3610-3612)aAt>aCt	p.N1204T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1204	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATATAAATGATAATGCT	0.408000													5	68					0	0	1	0	0
PPP4R2	151987	broad.mit.edu	37	3	73096445	73096445	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73096445C>T	ENST00000356692.5	+	3	478	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PPP4R2_ENST00000295862.9_Silent_p.V19V|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	75					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ACCCTAATGTCGAATATATTC	0.348000													13	22					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288718	151288718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151288718C>A	ENST00000368875.2	-	3	856	c.276G>T	c.(274-276)ggG>ggT	p.G92G	PI4KB_ENST00000271657.5_Silent_p.G92G|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Silent_p.G80G|PI4KB_ENST00000368873.1_Silent_p.G80G|PI4KB_ENST00000368874.4_Silent_p.G80G	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	80					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACACCATCCCCATTGACCA	0.592000													11	68					1.58986e-06	1.84011e-06	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24801111	24801111	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24801111C>A	ENST00000395799.3	+	6	1277	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P383H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	383	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTAAAAGGGCCTGTAGGGAGT	0.438000													10	58					0.00829132	0.00869385	1	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958284	57958284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958284G>A	ENST00000311591.3	+	1	379	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CACCTTCTTTGCCTCCATCGA	0.587000													28	80					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295511	35295511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35295511G>A	ENST00000254457.5	+	1	1428	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	6	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACTGTGCCGGCTGCAAAAGG	0.562000													15	28					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499319	37499319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37499319G>A	ENST00000381792.2	-	2	279	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TMPRSS6_ENST00000406725.1_Silent_p.L47L|TMPRSS6_ENST00000442782.2_Silent_p.L56L|TMPRSS6_ENST00000346753.3_Silent_p.L56L|TMPRSS6_ENST00000406856.1_Silent_p.L47L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	56					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCACAAACAGGGGCACCAGG	0.652000													19	39					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625615	66625615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625615C>T	ENST00000309602.4	+	1	643	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R134C	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	134						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCAGCTGGGCCGCATCGCGCC	0.687000													24	39					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209811	183209811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183209811G>A	ENST00000341319.3	-	7	1805	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	590										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGCAGGACGCACTCCTCTG	0.652000													30	47					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106185816	106185816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106185816G>T	ENST00000355610.4	-	15	2579	c.2305C>A	c.(2305-2307)Ctg>Atg	p.L769M	MORC4_ENST00000535534.1_Missense_Mutation_p.L517M|MORC4_ENST00000255495.7_Missense_Mutation_p.L769M	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	769							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTCTTCCAGCTCTCTCTGG	0.458000													14	168					4.36969e-10	5.35656e-10	1	1	0
PTAR1	375743	broad.mit.edu	37	9	72338485	72338485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72338485C>A	ENST00000377200.5	-	4	469	c.467G>T	c.(466-468)aGt>aTt	p.S156I	PTAR1_ENST00000340434.4_Missense_Mutation_p.S235I			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	235					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGAAATCCACTGTGGTCTGA	0.398000													21	65					1.50039e-11	1.87199e-11	1	1	0
HARBI1	283254	broad.mit.edu	37	11	46637623	46637623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637623C>T	ENST00000326737.3	-	2	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	55						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAGAAAGATTCGCCCCCAAGA	0.483000													18	31					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627487	70627487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627487G>A	ENST00000449580.1	+	27	4219	c.4168G>A	c.(4168-4170)Gag>Aag	p.E1390K	TAF1_ENST00000276072.3_Missense_Mutation_p.E1411K|TAF1_ENST00000373790.4_Missense_Mutation_p.E1390K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1411K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1390	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCATCTTGGAGTCTATCAT	0.453000													17	41					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996478	34996478	+	Missense_Mutation	SNP	G	G	A	rs35837382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996478G>A	ENST00000541010.1	+	2	3440	c.428G>A	c.(427-429)cGt>cAt	p.R143H	DNAJB5_ENST00000545841.1_Missense_Mutation_p.R143H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R257H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R177H|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R143H|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R215H			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	143					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTTTCGGCCGTTTTGGCTTC	0.602000													16	18					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099269	1099269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1099269G>A	ENST00000441003.2	+	38	7275	c.7248G>A	c.(7246-7248)acG>acA	p.T2416T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4778						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGAGCCCACGTGCAAATCCA	0.617000													15	45					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57951325	57951325	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57951325A>G	ENST00000564448.1	-	21	2055	c.1995T>C	c.(1993-1995)tgT>tgC	p.C665C	CNGB1_ENST00000251102.8_Silent_p.C671C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	671					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAATCAGCCAACAGTTCCAAT	0.567000													4	85					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961731	100961731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961731G>A	ENST00000375066.5	-	13	2777	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R689W|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R447W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	907						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGGATGCCCGCCTCTCCAGG	0.682000													66	91					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31986618	31986618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31986618C>T	ENST00000357033.4	-	45	6658	c.6452G>A	c.(6451-6453)gGc>gAc	p.G2151D	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.G2147D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2151					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAATGCCATCCTGGAG	0.398000													6	38					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195094	195094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:195094C>T	ENST00000328278.3	+	2	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	391										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCACCGGCTGCGCCAGCTCAA	0.672000													8	8					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30925998	30925998	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30925998A>G	ENST00000399907.1	-	17	3046	c.2635T>C	c.(2635-2637)Tgt>Cgt	p.C879R	GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.C864R|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.C881R|GRIK1_ENST00000399914.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	879					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTTGCTTACATTGCAGTCCA	0.333000													13	143					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926872	112926872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926872C>T	ENST00000351677.2	+	13	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	502	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGATGGTGCGGTCTCAGAG	0.458000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				60	107					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152081	8152081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8152081C>T	ENST00000600128.1	-	54	7048	c.6634G>A	c.(6634-6636)Gca>Aca	p.A2212T	FBN3_ENST00000270509.2_Missense_Mutation_p.A2212T|FBN3_ENST00000601739.1_Missense_Mutation_p.A2212T			Q75N90	FBN3_HUMAN	fibrillin 3	2212	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACCATCTGCACACTCGTCC	0.632000													18	30					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156562167	156562167	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156562167C>A	ENST00000368235.3	+	3	345	c.302C>A	c.(301-303)cCc>cAc	p.P101H	APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000368234.3_Missense_Mutation_p.P101H	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	101	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATATCCCCCCACGTCCATG	0.577000													5	61					0.184627	0.186383	1	1	0
SNHG14	0	broad.mit.edu	37	15	25225108	25225108	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25225108C>A	ENST00000551631.2	+	0	101					NR_001293.1																						AGCATTTCTCCTTGCATTGGT	0.368000													7	6					2.0095e-06	2.31757e-06	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62378406	62378406	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62378406G>A	ENST00000245663.4	-	5	1797	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	ZBTB46_ENST00000302995.2_Silent_p.G549G|ZBTB46_ENST00000395104.1_Silent_p.G549G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTCGCCCAGCTCCT	0.726000													13	23					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81392043	81392043	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81392043T>C	ENST00000222390.5	-	2	460	c.234A>G	c.(232-234)aaA>aaG	p.K78K	HGF_ENST00000444829.2_Silent_p.K78K|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Silent_p.K78K|HGF_ENST00000423064.2_Silent_p.K78K|HGF_ENST00000457544.2_Silent_p.K78K|HGF_ENST00000453411.1_Silent_p.K78K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	78	PAN.			K -> N (in Ref. 2; CAA34387).	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGGAAGTCCTTTATTCCTAG	0.323000													4	141					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000543339.1_Missense_Mutation_p.R258I|GPC3_ENST00000394299.2_Missense_Mutation_p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				12	136					0.00010058	0.000111121	1	1	0
RHD	6007	broad.mit.edu	37	1	25611236	25611236	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25611236C>A	ENST00000328664.4	+	2	476	c.321C>A	c.(319-321)gtC>gtA	p.V107V	RHD_ENST00000342055.5_Silent_p.V107V|RHD_ENST00000417538.2_Silent_p.V107V|RHD_ENST00000568195.1_Silent_p.V107V|RHD_ENST00000423810.2_Silent_p.V107V|RHD_ENST00000454452.2_Silent_p.V107V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Silent_p.V107V	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	107						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGTGGTCATCACACTGT	0.557000													7	22					1	1	1	1	0
SULT2A1	6822	broad.mit.edu	37	19	48389603	48389603	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389603G>T	ENST00000222002.3	-	0	51					NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGCTTTTACAGCAAGGATAAA	0.453000													11	17					9.70103e-10	1.18443e-09	1	1	0
GJD4	219770	broad.mit.edu	37	10	35896773	35896773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35896773G>A	ENST00000321660.1	+	2	490	c.332G>A	c.(331-333)tGc>tAc	p.C111Y		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	111					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGCCGCTGCCCCGACCCC	0.746000													5	4					0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9716629	9716629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9716629T>G	ENST00000467482.1	-	4	679	c.533A>C	c.(532-534)tAc>tCc	p.Y178S	GPR143_ENST00000380929.2_Missense_Mutation_p.Y198S			P51810	GP143_HUMAN	G protein-coupled receptor 143	178					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CACGGAAGGGTAGTAGAGCAT	0.597000													3	37					0	0	1	0	0
TRBV4-1	0	broad.mit.edu	37	7	142013476	142013476	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142013476G>A	ENST00000390357.3	+	0	360																											GTATCTCTGCGCCAGCAGCCA	0.597000													60	56					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249462	7249462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7249462T>C	ENST00000266542.4	-	6	1081	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	330	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTCATTCTGACGGTAGTC	0.582000													27	32					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215116	155215116	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155215116C>A	ENST00000460012.1	-	15	2154	c.1797G>T	c.(1795-1797)gtG>gtT	p.V599V	PLCH1_ENST00000334686.6_Silent_p.V599V|PLCH1_ENST00000340059.7_Silent_p.V617V|PLCH1_ENST00000414191.1_Silent_p.V599V|PLCH1_ENST00000447496.2_Silent_p.V617V|PLCH1_ENST00000494598.1_Silent_p.V617V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	617					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCGTCATCCACAATGTCCT	0.413000													16	55					2.35188e-11	2.93101e-11	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13168512	13168512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13168512A>G	ENST00000319217.7	-	22	3354	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	MPDZ_ENST00000546205.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1036T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1036T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1036T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1036	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCATGAATAATGCTTCGAAC	0.403000													91	129					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512219	4512219	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4512219T>G	ENST00000301286.3	-	3	1710	c.1711A>C	c.(1711-1713)Aca>Cca	p.T571P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	571	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTACACCTGTCTGGACAGCC	0.612000													13	166					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134478	58134478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58134478C>T	ENST00000357272.4	+	36	6155	c.5990C>T	c.(5989-5991)tCg>tTg	p.S1997L	FLNB_ENST00000429972.2_Missense_Mutation_p.S1986L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1973L|FLNB_ENST00000490882.1_Missense_Mutation_p.S2028L|FLNB_ENST00000419752.2_Missense_Mutation_p.S1817L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1997L|FLNB_ENST00000295956.4_Missense_Mutation_p.S1997L|FLNB_ENST00000493452.1_Missense_Mutation_p.S1804L			O75369	FLNB_HUMAN	filamin B, beta	1997	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGTCCAGTCGGAGATTGGT	0.567000													21	31					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55566747	55566747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55566747C>T	ENST00000262134.5	+	6	899	c.715C>T	c.(715-717)Cca>Tca	p.P239S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	239					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGCCTTCATTCCAGGAGTTCC	0.353000													10	27					0	0	1	0	0
RPL32	6161	broad.mit.edu	37	3	12881651	12881651	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12881651A>G	ENST00000429711.2	-	2	185	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RPL32_ENST00000435983.1_Missense_Mutation_p.V29A|RPL32_ENST00000273223.6_Missense_Mutation_p.V29A|RPL32_ENST00000396957.1_Missense_Mutation_p.V29A|RPL32_ENST00000396953.2_Missense_Mutation_p.V29A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTTAATTTTGACATATCGGTC	0.478000													22	230					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53684233	53684233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53684233G>A	ENST00000257934.4	+	24	5435	c.5344G>A	c.(5344-5346)Gca>Aca	p.A1782T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1782T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1782					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCGGCTGGCACTGGACCA	0.577000													10	48					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49365522	49365522	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49365522C>A	ENST00000225298.7	+	11	1518	c.1461C>A	c.(1459-1461)atC>atA	p.I487I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	487					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTACAGAAATCTTGGCAATTG	0.313000													23	36					1.22574e-08	1.47244e-08	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116056780G>A	ENST00000369271.3	-	18	2675	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S796L|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567000													4	64					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997339	165997339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165997339G>A	ENST00000360093.3	-	13	2332	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	SCN3A_ENST00000409101.3_Missense_Mutation_p.P614L|SCN3A_ENST00000283254.7_Missense_Mutation_p.P614L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTCTGTGCGGCACAAACAG	0.502000													19	21					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140512	139140512	+	Silent	SNP	C	C	T	rs143734527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139140512C>T	ENST00000280612.5	-	5	933	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	218					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TAAAGTTCTGCGTTTGACCTG	0.388000													29	47					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88188839	88188839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88188839G>A	ENST00000309495.5	+	1	586	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGatgttattgaaaatgttat	0.363000													3	7					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223806295	223806295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223806295G>T	ENST00000357430.3	+	17	2617	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	ACSL3_ENST00000392066.3_Missense_Mutation_p.D696Y	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	696					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGGTGACAGATGCCTTCAA	0.388000			T	ETV1	prostate								11	82					3.86212e-05	4.30401e-05	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27010091C>T	ENST00000314616.6	+	15	2142	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532000													5	9					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748498	14748498	+	Silent	SNP	A	A	C	rs17852893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14748498A>C	ENST00000380881.4	-	32	6515	c.5700T>G	c.(5698-5700)tcT>tcG	p.S1900S	FREM1_ENST00000422223.2_Silent_p.S1899S|FREM1_ENST00000380880.3_Silent_p.S1899S|FREM1_ENST00000380894.1_Silent_p.S435S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1899					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGCATGGAAGATGGAAGAG	0.522000													13	141					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101536295	101536295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101536295A>G	ENST00000353234.4	-	9	1732	c.1685T>C	c.(1684-1686)cTa>cCa	p.L562P	ANKS6_ENST00000540940.1_Missense_Mutation_p.L367P|ANKS6_ENST00000375018.1_Missense_Mutation_p.L562P|ANKS6_ENST00000375019.2_Missense_Mutation_p.L261P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	562										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGAAGGGGGTAGGAATGGGGG	0.592000													3	37					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99754506	99754506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99754506G>T	ENST00000316937.3	-	6	1140	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	C7orf43_ENST00000419841.1_Missense_Mutation_p.L87M|C7orf43_ENST00000457641.1_Missense_Mutation_p.L50M|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	319										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCTCTCAGCTGAAACAGG	0.602000													9	114					2.17888e-05	2.45068e-05	1	1	0
PIBF1	10464	broad.mit.edu	37	13	73547757	73547757	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73547757C>A	ENST00000326291.6	+	16	2331	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	665						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCAGCTTTACTACAGACGAA	0.254000													17	29					2.4624e-09	2.98951e-09	1	1	0
FRYL	285527	broad.mit.edu	37	4	48542894	48542894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48542894G>A	ENST00000537810.1	-	46	6375	c.5771C>T	c.(5770-5772)cCc>cTc	p.P1924L	FRYL_ENST00000503238.1_Missense_Mutation_p.P1924L|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.P1924L			O94915	FRYL_HUMAN	FRY-like	1924					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTATTAATGGGACTTGTGCT	0.393000													3	74					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030736	21030736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21030736C>T	ENST00000381545.3	+	10	1220	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T334I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	334					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCATCCTTACCAATCCCCTG	0.259000													18	56					0	0	1	0	0
CENPM	79019	broad.mit.edu	37	22	42341982	42341982	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42341982G>T	ENST00000402338.1	-	2	304	c.63C>A	c.(61-63)ccC>ccA	p.P21P	CENPM_ENST00000215980.5_Silent_p.P55P|CENPM_ENST00000402420.1_Silent_p.P21P|CENPM_ENST00000407253.3_Silent_p.P55P|CENPM_ENST00000404067.1_Silent_p.P21P			Q9NSP4	CENPM_HUMAN	centromere protein M	55					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TCACACTGGAGGGCAAAGGGA	0.522000													5	31					0.000602214	0.000649039	1	1	0
XPR1	9213	broad.mit.edu	37	1	180804025	180804025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180804025G>T	ENST00000367590.4	+	10	1348	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	XPR1_ENST00000367589.3_Missense_Mutation_p.A384S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	384						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTATTTACAGCCCCCTTCCA	0.403000													15	61					4.14922e-12	5.2041e-12	1	1	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739186	46739186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739186C>A	ENST00000306448.4	-	2	1778	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R222I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	222					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTTTCTGTTGGTGTT	0.393000													26	48					2.12542e-12	2.67336e-12	1	1	0
SNHG14	0	broad.mit.edu	37	15	25463582	25463582	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463582C>T	ENST00000424208.1	+	0	2869				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CACCTGTTCCCCTAGATGGTG	0.582000													7	5					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848136	83848136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83848136C>A	ENST00000349129.2	+	21	4635	c.4375C>A	c.(4375-4377)Ctc>Atc	p.L1459I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1450I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1440I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1459					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTATTTCTCTCTGCTTATA	0.363000													12	109					2.80697e-09	3.39963e-09	1	1	0
CCP110	9738	broad.mit.edu	37	16	19548728	19548728	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19548728C>T	ENST00000396212.2	+	5	2173	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N	CCP110_ENST00000396208.2_Silent_p.N579N|CCP110_ENST00000381396.5_Silent_p.N579N	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	579					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTTTGGATAACAGTTTTGAGA	0.353000													11	134					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436202	11436202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11436202G>A	ENST00000222120.3	-	5	792	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	RAB3D_ENST00000589655.1_Missense_Mutation_p.R178C|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	178					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCACCAGGCGCTCGAAGACC	0.567000													7	71					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138670585	138670585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138670585C>A	ENST00000520602.1	-	24	2848	c.2563G>T	c.(2563-2565)Gat>Tat	p.D855Y	MCF2_ENST00000536274.1_Missense_Mutation_p.D756Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D795Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D871Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D811Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D940Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D855Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D795Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	795					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338000													5	63					1	1	1	1	0
MIB2	142678	broad.mit.edu	37	1	1560486	1560486	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1560486C>T	ENST00000357210.4	+	6	1032	c.816C>T	c.(814-816)ggC>ggT	p.G272G	MIB2_ENST00000504599.1_Silent_p.G228G|MIB2_ENST00000355826.5_Silent_p.G315G|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Silent_p.G329G|MIB2_ENST00000378708.1_Silent_p.G214G|MIB2_ENST00000378710.3_Silent_p.G272G|MIB2_ENST00000360522.4_Silent_p.G272G|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000505820.2_Silent_p.G329G	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	272	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGTGTGGGCCACAAGGGCA	0.632000													29	45					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763330	44763330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44763330C>T	ENST00000296091.4	+	4	1277	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H341Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H341Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTCTCTCAGCATCAGAGAAT	0.403000													20	56					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91290665	91290665	+	Missense_Mutation	SNP	C	C	T	rs148545569		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91290665C>T	ENST00000355112.3	+	2	161	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	BLM_ENST00000560509.1_Missense_Mutation_p.R15C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	15					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCAACTAGAACGTCACTCAGC	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				8	14					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165181	151165181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165181G>A	ENST00000282466.3	-	4	2587	c.2588C>T	c.(2587-2589)aCt>aTt	p.T863I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	863					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAATAGCAGTAGACAGTTT	0.383000													69	228					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95912288	95912288	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95912288G>A	ENST00000334258.5	-	8	1604	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	SYNE3_ENST00000557275.1_Silent_p.D530D|SYNE3_ENST00000553340.1_Silent_p.D530D|SYNE3_ENST00000554873.1_Silent_p.D287D	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TATGCAGCAGGTCTCTGTCCC	0.597000													54	52					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866162	47866162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47866162C>A	ENST00000396105.1	-	14	3645	c.3399G>T	c.(3397-3399)gaG>gaT	p.E1133D	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1133D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1133							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGTGAGCCTCATGCTGGT	0.502000													7	97					1.12685e-05	1.27857e-05	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35965538	35965538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35965538T>C	ENST00000490799.1	-	5	957	c.604A>G	c.(604-606)Act>Gct	p.T202A	SLC26A8_ENST00000355574.2_Missense_Mutation_p.T202A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.T202A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	202					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAGAAAAGTTGTGGTTGCC	0.448000													3	33					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621421	7621421	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7621421G>T	ENST00000221249.6	+	28	3493	c.3062G>T	c.(3061-3063)aGc>aTc	p.S1021I	PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1069I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1059I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S994I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1021I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1060	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAACCGCAGCATCCATCGG	0.617000													6	87					0.000157383	0.00017284	1	1	0
GATA3	2625	broad.mit.edu	37	10	8115914	8115914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8115914G>A	ENST00000379328.3	+	6	1831	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	GATA3_ENST00000346208.3_Silent_p.T420T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	420					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACGCCCACGCCGATGCACC	0.642000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						21	39					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9911604	9911604	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9911604G>T	ENST00000336832.2	-	5	655	c.516C>A	c.(514-516)tcC>tcA	p.S172S	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Silent_p.S182S|CIDEC_ENST00000455015.1_Silent_p.S98S|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Silent_p.S98S	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	172					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCAGATCATAGGAAAGGGAGT	0.512000													9	43					0.000274275	0.000298791	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197444953	197444953	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444953A>C	ENST00000389665.5	-	2	296	c.114T>G	c.(112-114)ggT>ggG	p.G38G	KIAA0226_ENST00000296343.5_Silent_p.G38G|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Silent_p.G38G|KIAA0226_ENST00000273582.5_5'UTR			Q92622	RUBIC_HUMAN	KIAA0226	38					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTGATACCAAACCCTCCACCG	0.522000													13	37					0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2759266	2759266	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2759266C>A	ENST00000221566.2	-	9	887	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	242					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGAATCTGGGGATTGT	0.403000													12	97					7.93312e-07	9.21973e-07	1	1	0
PRKAG3	53632	broad.mit.edu	37	2	219692321	219692321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219692321C>T	ENST00000392098.3	-	7	838	c.806G>A	c.(805-807)tGg>tAg	p.W269*	PRKAG3_ENST00000439262.2_Silent_p.L259L|PRKAG3_ENST00000545803.1_Silent_p.L100L|PRKAG3_ENST00000529249.1_Silent_p.L284L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	0					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGGAGACCAGAGGCTTGA	0.582000													32	56					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515547	44515547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44515547C>A	ENST00000429154.2	+	5	1584	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATGTGAGGACTGTGGGAAGC	0.378000													19	42					1.64113e-05	1.85146e-05	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57203355	57203355	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57203355C>A	ENST00000320057.5	-	0	141							Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D							Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCCCCCATGCCTAGCACTCTG	0.517000													5	3					0.184627	0.186383	1	1	0
PRTG	283659	broad.mit.edu	37	15	55929446	55929446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55929446C>T	ENST00000389286.4	-	15	2592	c.2545G>A	c.(2545-2547)Gtt>Att	p.V849I		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	849	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGGGTCACAACTGTTTCTGGG	0.483000													5	167					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4487459	4487459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4487459G>T	ENST00000262375.6	+	3	479	c.402G>T	c.(400-402)aaG>aaT	p.K134N	DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K134N|DNAJA3_ENST00000572139.1_3'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	134	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCAAGGAGAAGTTCTCCCAGC	0.443000													3	28					0.004672	0.0049138	1	1	0
SOX5	6660	broad.mit.edu	37	12	23696281	23696281	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23696281T>A	ENST00000546136.1	-	12	1598	c.1596A>T	c.(1594-1596)gaA>gaT	p.E532D	SOX5_ENST00000541536.1_Missense_Mutation_p.E424D|SOX5_ENST00000545921.1_Missense_Mutation_p.E535D|SOX5_ENST00000451604.2_Missense_Mutation_p.E545D|SOX5_ENST00000396007.2_Missense_Mutation_p.E159D|SOX5_ENST00000537393.1_Missense_Mutation_p.E510D|SOX5_ENST00000309359.1_Missense_Mutation_p.E532D|SOX5_ENST00000381381.2_Missense_Mutation_p.E424D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	545					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCCTCGGGATTCCCTATAAA	0.448000													6	89					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103716	168103716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168103716G>T	ENST00000409195.1	+	9	5903	c.5814G>T	c.(5812-5814)gaG>gaT	p.E1938D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1716D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1938D|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1763					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCAAAGAGGTACATAAAG	0.388000													5	36					0.014758	0.0152625	1	1	0
GANC	2595	broad.mit.edu	37	15	42638010	42638010	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42638010A>C	ENST00000318010.8	+	20	2524	c.2284A>C	c.(2284-2286)Atc>Ctc	p.I762L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	762					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TACTGTAAAGATCCCAGTAGC	0.408000													43	67					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116929920	116929920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929920C>A	ENST00000537345.1	+	4	557	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	ATP1A1_ENST00000295598.5_Missense_Mutation_p.S65Y|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S34Y	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	65					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGATTAACATCTGCTCGTGCA	0.507000													5	41					0.184627	0.186383	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37529326	37529326	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37529326G>T	ENST00000299824.1	+	5	759	c.571_splice	c.e5+1	p.Q190_splice	PPP1R16B_ENST00000373331.2_Splice_Site_p.Q190_splice	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	190					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCATACCAGGGTAAGGGAG	0.552000													12	12					0.00010058	0.000111121	1	1	0
IBTK	25998	broad.mit.edu	37	6	82925825	82925825	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82925825G>T	ENST00000306270.7	-	11	2118	c.1569C>A	c.(1567-1569)aaC>aaA	p.N523K	IBTK_ENST00000510291.1_Missense_Mutation_p.N523K|IBTK_ENST00000503631.1_Missense_Mutation_p.N523K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	523					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGATTGCAAAGTTGCATCCAC	0.338000													19	45					1.64293e-13	2.0847e-13	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105420882	105420882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105420882G>A	ENST00000333244.5	-	7	1025	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	302						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTGAGCTGGGCCTCTGTGT	0.652000													5	12					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018775	1018775	+	Silent	SNP	C	C	T	rs140148549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018775C>T	ENST00000398484.2	+	8	1735	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	FGFRL1_ENST00000264748.6_Silent_p.A385A|FGFRL1_ENST00000504138.1_Silent_p.A385A|FGFRL1_ENST00000510644.1_Silent_p.A385A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	385					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCATCCCAGCCGGCGCTGTCT	0.697000													12	16					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	rs116363086	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805114G>A	ENST00000355237.2	+	3	633	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	OCLN_ENST00000380766.2_Missense_Mutation_p.R66Q|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.R66Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	66	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478000													62	91					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	rs140368149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682000													25	47					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024971	30024971	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30024971G>A	ENST00000346128.6	-	14	2259	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	TJP1_ENST00000400011.2_Silent_p.G599G|TJP1_ENST00000545208.2_Silent_p.G595G|TJP1_ENST00000356107.6_Silent_p.G595G	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	595					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACGGTCTCCGCCTGCTGTTT	0.438000													16	30					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131803000	131803000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131803000G>T	ENST00000392953.3	+	13	2421	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q563H|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q574H	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	634					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAAGCAGCAGGTCACAGGGA	0.612000													4	33					0.000602214	0.000649039	1	1	0
SCIN	85477	broad.mit.edu	37	7	12680116	12680116	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12680116C>T	ENST00000297029.5	+	11	1656	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	SCIN_ENST00000445618.2_Silent_p.L272L|SCIN_ENST00000519209.1_Silent_p.L272L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	519	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGGAGAAACCTGGCATCTAT	0.448000													15	7					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087049	39087049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39087049G>A	ENST00000400482.3	-	3	1000	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6_ENST00000288309.6_Silent_p.N137N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	137					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468000													33	58					0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134367153	134367153	+	Missense_Mutation	SNP	G	G	A	rs139844695		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134367153G>A	ENST00000265340.7	-	2	631	c.215C>T	c.(214-216)gCg>gTg	p.A72V	PITX1_ENST00000506438.1_Missense_Mutation_p.A72V	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	72						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGTGCCTCCCGCACCACTGTC	0.677000													9	14					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545496	5545496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:5545496C>T	ENST00000324331.6	+	5	1324	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	FARS2_ENST00000274680.4_Missense_Mutation_p.R330C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCCTGATATCCGTCTCTTCTG	0.473000													73	119					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110575634	110575634	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110575634C>T	ENST00000531677.1	+	6	530	c.530C>T	c.(529-531)aCc>aTc	p.T177I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGATCCAGGACCAATGTATGT	0.443000													102	180					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338410	28338410	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28338410C>A	ENST00000284987.5	-	1	422	c.301G>T	c.(301-303)Gac>Tac	p.D101Y		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	101					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTCCAGGTCCAAGAGGAAC	0.682000													35	39					3.76114e-14	4.79375e-14	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58549309	58549309	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58549309A>G	ENST00000282326.1	+	3	352	c.105A>G	c.(103-105)gaA>gaG	p.E35E	ZSCAN1_ENST00000391700.1_Silent_p.E35E|ZSCAN1_ENST00000601162.1_Silent_p.E35E	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716000													3	10					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64920513	64920513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920513C>T	ENST00000555709.1	+	25	2886	c.2499C>T	c.(2497-2499)atC>atT	p.I833I	ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000545908.1_Silent_p.I889I|MTHFD1_ENST00000216605.7_Silent_p.I889I|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	833	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CACAGAAGATCTATGGAGCAG	0.428000													7	39					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44339668	44339668	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44339668C>A	ENST00000324461.7	+	5	431	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Missense_Mutation_p.S45Y|ZNF283_ENST00000593164.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000590950.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000310738.8_Missense_Mutation_p.S9Y|ZNF283_ENST00000588797.1_5'UTR	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCTGGCTTTTCTGGATTCTGT	0.428000													4	8					0.150653	0.152692	1	1	0
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478000													10	126					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969296	47969296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969296C>T	ENST00000236877.6	-	2	760	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTCCAGATGCGAACGGTGCC	0.587000													8	28					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25159865	25159865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25159865C>T	ENST00000276440.7	+	10	915	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOCK5_ENST00000481100.1_Missense_Mutation_p.R291W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	291						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCTCATCCGGCCCCGCGT	0.557000													6	23					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34074316	34074316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34074316C>T	ENST00000382499.2	-	3	282	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SYNJ1_ENST00000382491.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V95I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V56I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	56							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCATCCAGTACTTTGGAGTAT	0.323000													46	77					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629976	47629976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47629976C>A	ENST00000546455.1	+	4	1861	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	PCED1B_ENST00000432328.1_Missense_Mutation_p.P377H					PC-esterase domain containing 1B																		ATGGTTGGTCCTCAGCTGCCT	0.532000													19	62					4.96729e-08	5.9048e-08	1	1	0
CD180	4064	broad.mit.edu	37	5	66480139	66480139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66480139G>T	ENST00000256447.4	-	3	689	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	178					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAAAATCCAGTACTTTCAGA	0.418000													37	75					5.71845e-15	7.32261e-15	1	1	0
MIR1197	0	broad.mit.edu	37	14	101491962	101491962	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101491962C>T	ENST00000408818.1	+	0	62					NR_031713.1																						TGACGTAGGACACATGGTCTA	0.498000													21	43					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77825382	77825382	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77825382G>T	ENST00000376156.3	-	6	606	c.603C>A	c.(601-603)atC>atA	p.I201I	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.I201I	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	201					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CATAGAGGTAGATATGCTTGA	0.363000													14	41					6.31663e-08	7.49729e-08	1	1	0
TRABD2A	129293	broad.mit.edu	37	2	85097653	85097653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85097653C>T	ENST00000335459.5	-	2	570	c.365G>A	c.(364-366)cGc>cAc	p.R122H	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R122H|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R122H	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GCGCTTGAGGCGGCAGTAGAT	0.577000													12	27					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76741602	76741602	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76741602T>G	ENST00000287239.4	+	11	2778	c.2289T>G	c.(2287-2289)atT>atG	p.I763M	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.I471M|KAT6B_ENST00000372711.1_Missense_Mutation_p.I580M|KAT6B_ENST00000372725.1_Missense_Mutation_p.I471M|KAT6B_ENST00000372714.1_Missense_Mutation_p.I471M	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	763	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GTAAAAATATTTTGCTAAGAC	0.318000													6	63					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175341	51175341	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:51175341C>G	ENST00000440970.1	-	2	932	c.501G>C	c.(499-501)ttG>ttC	p.L167F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L264F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	264					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGATGTTGGCAAGTCTGCAT	0.488000													4	96					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49992709	49992709	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49992709T>C	ENST00000544141.1	-	5	2522	c.1923A>G	c.(1921-1923)gtA>gtG	p.V641V	FAM186B_ENST00000257894.2_Silent_p.V731V|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	731						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGATTTGTACATGGTTGA	0.507000													7	39					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921953	110921953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110921953G>A	ENST00000369779.4	-	6	801	c.552C>T	c.(550-552)atC>atT	p.I184I	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000541986.1_Silent_p.I122I|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Silent_p.I136I|SLC16A4_ENST00000437429.2_Silent_p.I74I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	184						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AATTCAATGCGATAGCTCCAA	0.378000													19	44					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467603	6467603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467603G>A	ENST00000381480.2	-	23	2430	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S729F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	773						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTAGCAGGGGAATTCAGGGC	0.617000													16	20					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221096	47221096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47221096G>A	ENST00000296861.2	-	4	1798	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	469	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCGGGGCCCCGGATGGTCCAG	0.607000													4	14					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234667G>A	ENST00000394685.3	+	27	4107	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A1230T|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A1230T			Q8WUJ3	K1199_HUMAN	KIAA1199	1230										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACGACTTCGCTTACATTGA	0.483000													30	49					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140041219	140041219	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140041219G>A	ENST00000417647.2	+	17	1567	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	476					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAGGGGCCCTTAGGCC	0.498000													3	7					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975803	42975803	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975803G>T	ENST00000485511.1	+	7	1036	c.857_splice	c.e7+1	p.R286_splice	PPP2R5D_ENST00000394110.3_Splice_Site_p.R254_splice|PPP2R5D_ENST00000472118.1_Splice_Site_p.R278_splice|PPP2R5D_ENST00000461010.1_Splice_Site_p.R180_splice	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	286					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTTCTACAGGTGAGGCCAG	0.557000													9	88					7.48243e-07	8.70085e-07	1	1	0
UBE3C	9690	broad.mit.edu	37	7	156994433	156994433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156994433C>A	ENST00000348165.5	+	11	1710	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	450					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGTTTAGCCTTTAATGCCA	0.308000													32	101					6.90743e-12	8.64953e-12	1	1	0
C6orf1	221491	broad.mit.edu	37	6	34214829	34214829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34214829C>T	ENST00000476320.1	-	4	799	c.117G>A	c.(115-117)gaG>gaA	p.E39E	C6orf1_ENST00000481533.1_Silent_p.E39E|C6orf1_ENST00000394990.4_Silent_p.E39E|C6orf1_ENST00000413013.2_Silent_p.E19E|C6orf1_ENST00000468145.1_Silent_p.E39E|C6orf1_ENST00000335352.3_Silent_p.E19E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	39						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACCTTGGGGTCTCCCATGTCA	0.612000											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	81					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80885151	80885151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80885151G>A	ENST00000355528.4	+	29	2691	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TBCD_ENST00000539345.2_Missense_Mutation_p.G854D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	854					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCTGGGCTGCATGGAC	0.547000													13	21					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3115036	3115036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3115036G>A	ENST00000078429.4	+	4	813	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	191					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGGCATCATCGAGTACCCTTT	0.662000			Mis		uveal melanoma								39	63					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48139382	48139382	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48139382A>C	ENST00000331803.4	+	5	783	c.160A>C	c.(160-162)Aag>Cag	p.K54Q	UPP1_ENST00000341253.4_Missense_Mutation_p.K54Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.K54Q|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	54					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TGGAGATGTGAAGGTAAGAGG	0.403000													15	233					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42300022	42300022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42300022C>T	ENST00000399518.3	-	3	784	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A71T	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	82	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTCTGAGAGGCGGTGGGCAGC	0.502000													4	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797948	39797948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39797948G>T	ENST00000564288.1	+	37	6465	c.5688G>T	c.(5686-5688)gaG>gaT	p.E1896D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E336D|MACF1_ENST00000567887.1_Missense_Mutation_p.E1933D|MACF1_ENST00000372915.3_Missense_Mutation_p.E1901D|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1901					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCACAGAGATTTTGTCCT	0.408000													6	77					8.12818e-05	8.99451e-05	1	1	0
USP2	9099	broad.mit.edu	37	11	119229791	119229791	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119229791T>C	ENST00000260187.2	-	6	1409	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	USP2_ENST00000455332.2_Missense_Mutation_p.E129G|USP2_ENST00000525735.1_Missense_Mutation_p.E163G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	372					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGGTTCACCTCGTTATGGAG	0.493000													10	67					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257783	158257783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257783G>T	ENST00000296526.7	+	11	2053	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D	GRIA2_ENST00000393815.2_Missense_Mutation_p.E529D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E529D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E576D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACTGAGGAGTTTGAAGATG	0.418000													11	102					0.00010058	0.000111121	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134179596C>T	ENST00000431683.2	+	11	1038	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478000													5	10					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32841937	32841937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32841937G>A	ENST00000341071.7	-	9	1144	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	BSDC1_ENST00000419121.2_Missense_Mutation_p.A305V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A361V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A378V|BSDC1_ENST00000526031.1_Missense_Mutation_p.A266V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A300V|BSDC1_ENST00000455895.2_Missense_Mutation_p.A361V			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	361							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGTGGGCGCCTCCTCCCT	0.602000													68	99					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018121	7018121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7018121G>T	ENST00000382040.3	+	1	326	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	64					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAGGAGGAAGAGGACCCTCC	0.557000													13	34					2.61681e-11	3.25769e-11	1	1	0
CTPS2	56474	broad.mit.edu	37	X	16688716	16688716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16688716C>A	ENST00000443824.1	-	11	1919	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CTPS2_ENST00000380241.3_Missense_Mutation_p.K392N|CTPS2_ENST00000359276.4_Missense_Mutation_p.K392N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	392	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAAAAGGAATCTTCTTTGTCC	0.388000													10	218					0.000978159	0.00105116	1	1	0
EMR4P	0	broad.mit.edu	37	19	6988822	6988822	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6988822C>A	ENST00000600751.1	-	0	108					NR_024075.1																						GCTTCTGATCCTGGCAGAGCC	0.532000													33	43					2.40579e-17	3.11917e-17	1	1	0
UAP1	6675	broad.mit.edu	37	1	162567644	162567644	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162567644G>T	ENST00000271469.3	+	10	1774	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V	UAP1_ENST00000367926.4_Missense_Mutation_p.G474V|UAP1_ENST00000367924.1_Missense_Mutation_p.G490V|UAP1_ENST00000486089.1_3'UTR|UAP1_ENST00000367925.1_Missense_Mutation_p.G491V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	491					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCTATGCTGGAGAAGTAAGT	0.313000													7	159					5.18039e-06	5.91835e-06	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45434273	45434273	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45434273C>T	ENST00000321429.4	+	16	2192	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	DUOX1_ENST00000389037.3_Silent_p.F595F|DUOX1_ENST00000561166.1_Silent_p.F241F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	595					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATTTGGCTTCGGGGTCACCA	0.577000													38	42					0	0	1	0	0
BUD31	8896	broad.mit.edu	37	7	99013877	99013877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99013877A>T	ENST00000403633.2	+	4	740	c.211A>T	c.(211-213)Agc>Tgc	p.S71C	BUD31_ENST00000431419.1_Missense_Mutation_p.S42C|BUD31_ENST00000222969.5_Missense_Mutation_p.S71C|BUD31_ENST00000456893.1_Intron			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	71					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCCATCAGCAGAGGTAA	0.473000													5	121					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59947632	59947632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59947632C>T	ENST00000398130.2	+	23	3239	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1003							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTTGACAAGCGGGTTGCTCC	0.438000													24	62					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100105197C>T	ENST00000372966.3	-	9	1281	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372960.4_Missense_Mutation_p.G322E|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	359	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473000													5	49					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403922	65403922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65403922G>A	ENST00000355703.3	+	34	6193	c.5654G>A	c.(5653-5655)gGc>gAc	p.G1885D		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1885	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCCTGAGTGGCTCTGGTGAT	0.692000													19	22					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779070	52779070	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779070G>A	ENST00000257951.3	-	1	366	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	100	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACACAGCTGTCAGCCCTAG	0.597000													10	93					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96394849	96394849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96394849G>A	ENST00000228740.2	-	19	1895	c.1754C>T	c.(1753-1755)gCt>gTt	p.A585V	LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.A561V|RP11-256L6.3_ENST00000551849.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	585					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GGTTCGGACAGCTTGATCATG	0.453000													26	70					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9435937	9435937	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9435937G>T	ENST00000379719.3	+	5	757	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	205					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGATATTCAAGATCTTCTATG	0.363000													5	147					2.0095e-06	2.31757e-06	1	1	0
EXOC8	149371	broad.mit.edu	37	1	231472501	231472501	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472501C>A	ENST00000366645.1	-	1	1097	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	EXOC8_ENST00000360394.2_Missense_Mutation_p.D331Y			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	331					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATGGAGAGGTCCACCTTCTCT	0.522000													36	73					8.16904e-11	1.01094e-10	1	1	0
IGKV6D-21	0	broad.mit.edu	37	2	90060890	90060890	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:90060890G>T	ENST00000436451.2	+	0	304																											GGGTCCCCTCGAGGTTCAGTG	0.498000													38	52					2.26627e-22	2.99131e-22	1	1	0
PKN1	5585	broad.mit.edu	37	19	14581099	14581099	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14581099C>T	ENST00000242783.6	+	19	2583	c.2418C>T	c.(2416-2418)taC>taT	p.Y806Y	PKN1_ENST00000342216.4_Silent_p.Y812Y	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	806	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGCTCTACGAGATGCTGG	0.637000													4	24					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820658	51820658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51820658G>A	ENST00000579534.1	+	10	2187	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	POLI_ENST00000217800.5_Missense_Mutation_p.A556T|POLI_ENST00000406285.3_Missense_Mutation_p.A603T|POLI_ENST00000579434.1_Missense_Mutation_p.A579T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	682					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAAACAGTAGCAACAGACTC	0.393000								DNA polymerases (catalytic subunits)					4	48					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754810	123754810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123754810G>T	ENST00000375026.2	-	3	651	c.435C>A	c.(433-435)taC>taA	p.Y145*		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	145						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAACATTTAAGTAAGCAGTAT	0.443000													4	79					0.00909568	0.00947522	1	1	0
IFNW1	3467	broad.mit.edu	37	9	21141206	21141206	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21141206A>T	ENST00000380229.2	-	1	938	c.364T>A	c.(364-366)Tgc>Agc	p.C122S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	122					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCAGCAAGCAGGTCTCCAGG	0.557000													20	32					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941712	95941712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95941712C>A	ENST00000317620.9	+	3	462	c.329C>A	c.(328-330)gCt>gAt	p.A110D	PROM2_ENST00000317668.4_Missense_Mutation_p.A110D|PROM2_ENST00000403131.2_Missense_Mutation_p.A110D|PROM2_ENST00000542147.1_Missense_Mutation_p.A110D|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTGGTATGCGCTGTGATCGCG	0.692000													3	9					0.0293803	0.0301098	1	1	0
MAPK12	6300	broad.mit.edu	37	22	50694529	50694529	+	Missense_Mutation	SNP	G	G	A	rs2230823	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50694529G>A	ENST00000215659.8	-	7	919	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	MAPK12_ENST00000395780.1_Missense_Mutation_p.R112C|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	202	Protein kinase.			MR -> IA (in Ref. 1; CAA55984).	cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGTGTAGCGCATCCAATTC	0.612000													21	28					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863479	51863479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51863479G>T	ENST00000453097.2	+	12	1648	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q424H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q504H|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q424H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q424H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	477					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGCTTACAGTGTTTGGCTT	0.542000													10	90					1.11149e-13	1.41171e-13	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176762783	176762783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176762783G>T	ENST00000367662.3	+	20	6272	c.5108G>T	c.(5107-5109)tGg>tTg	p.W1703L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAGCACTGGATGGAACCT	0.478000													3	40					0.00024832	0.0002712	1	1	0
SNORD114-30	0	broad.mit.edu	37	14	101458297	101458297	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101458297G>A	ENST00000364448.1	+	0	42					NR_003223.1																						GTCTTCGTCAGTGAATGCCTA	0.393000													9	96					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152580	166152580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166152580C>T	ENST00000357398.3	+	2	537	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SCN2A_ENST00000375437.2_Missense_Mutation_p.P83S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P83S|SCN2A_ENST00000283256.6_Missense_Mutation_p.P83S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGATCTGGACCCCTACTATAT	0.453000													25	34					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715327	68715327	+	Missense_Mutation	SNP	C	C	T	rs145027254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715327C>T	ENST00000325631.5	+	2	189	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R39W	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	39					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGACAGTGAGCGGGCAGTGAG	0.552000													14	21					0	0	1	0	0
MNF1	0	broad.mit.edu	37	6	33669180	33669180	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33669180G>T	ENST00000607484.1	-	2	196	c.156C>A	c.(154-156)gcC>gcA	p.A52A	MNF1_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		52																	TCTGATCACAGGCCTCAGGCT	0.493000													12	73					2.68362e-12	3.37045e-12	1	1	0
PEG10	23089	broad.mit.edu	37	7	94293536	94293536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94293536T>C	ENST00000482108.1	+	2	1147	c.668T>C	c.(667-669)gTc>gCc	p.V223A	PEG10_ENST00000488574.1_Missense_Mutation_p.V223A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCTCGAGGTCGCCAAGTCG	0.622000													11	102					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72769101	72769101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72769101C>A	ENST00000357814.3	-	4	341	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NAT9_ENST00000578822.1_Missense_Mutation_p.D95Y|NAT9_ENST00000581136.1_Missense_Mutation_p.D90Y|NAT9_ENST00000583757.1_Missense_Mutation_p.D89Y|NAT9_ENST00000583476.1_Missense_Mutation_p.D90Y|NAT9_ENST00000582870.1_Missense_Mutation_p.D94Y|NAT9_ENST00000580301.1_Missense_Mutation_p.D89Y|NAT9_ENST00000582524.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580632.1_Missense_Mutation_p.D89Y	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	90	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGGTTCACATCTCCCACCATG	0.567000													8	23					0.00307968	0.00325696	1	1	0
CAPN10	11132	broad.mit.edu	37	2	241536168	241536168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241536168C>T	ENST00000391984.2	+	9	1748	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.Q518*	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	518	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGACCGTGCAGCTACGGGG	0.677000													6	55					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71516782	71516782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71516782G>A	ENST00000261413.5	-	11	1238	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MRPS27_ENST00000457646.4_Missense_Mutation_p.A344V|MRPS27_ENST00000513900.1_Missense_Mutation_p.A414V	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	400						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTCCTGCTTCGCTTGCTCCCT	0.547000													47	53					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2427272	2427272	+	Missense_Mutation	SNP	G	G	A	rs142372288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2427272G>A	ENST00000452833.1	-	22	3315	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	TRPM5_ENST00000155858.6_Missense_Mutation_p.R1101C|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1109C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1101C			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1101						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTTGATGCGCTTTTCTTGC	0.637000													7	19					0	0	1	0	0
MIR520B	0	broad.mit.edu	37	19	54204498	54204498	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54204498C>A	ENST00000384989.1	+	0	18					NR_030195.1																						CAGGGAAGCGCTTTCTGTTGT	0.418000													4	40					0.00909568	0.00947522	1	1	0
KRT26	353288	broad.mit.edu	37	17	38922877	38922877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922877G>A	ENST00000335552.4	-	8	1345	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	433	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATTTGATCCAGTTCCTCAACC	0.338000													26	44					0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31213042	31213042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213042G>A	ENST00000247470.9	-	3	753	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PYCARD_ENST00000350605.4_Missense_Mutation_p.A132V	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	151	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GGTGGGCTCGGCCCGCACTGC	0.607000													36	42					0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83725176	83725176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83725176G>T	ENST00000261721.4	-	2	725	c.523C>A	c.(523-525)Ctt>Att	p.L175I	RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L175I|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	175						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGCCCTAAGATGTTTGGTG	0.368000													12	30					1.61879e-10	1.99744e-10	1	1	0
MPV17	4358	broad.mit.edu	37	2	27545327	27545327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27545327C>T	ENST00000380044.1	-	2	113	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MPV17_ENST00000402722.1_Missense_Mutation_p.V20I|MPV17_ENST00000233545.2_Missense_Mutation_p.V20I|MPV17_ENST00000405983.1_Missense_Mutation_p.V20I|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.V20I|MPV17_ENST00000405076.1_Missense_Mutation_p.V20I|MPV17_ENST00000402310.1_Missense_Mutation_p.V20I|MPV17_ENST00000399052.4_Missense_Mutation_p.V20I	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	20					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCAGGACCTGTACTTTC	0.627000													27	46					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26640404	26640404	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26640404A>G	ENST00000264866.4	+	6	659	c.381A>G	c.(379-381)ggA>ggG	p.G127G	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.G62G	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	127						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGCCAGTTGGAGAACAGAAAG	0.303000													24	43					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247030630	247030630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247030630G>T	ENST00000366508.1	-	26	3504	c.3368C>A	c.(3367-3369)cCt>cAt	p.P1123H	AHCTF1_ENST00000391829.2_Missense_Mutation_p.P1088H|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1097H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1088					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATACACTATAGGAGATGGTTC	0.363000													7	18					0.0293803	0.0301098	1	1	0
EMP2	2013	broad.mit.edu	37	16	10626797	10626797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10626797C>T	ENST00000359543.3	-	5	678	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	EMP2_ENST00000536829.1_Missense_Mutation_p.G157S	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	157					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TACATCATGCCGCTGATGAAG	0.502000													6	59					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101186146G>A	ENST00000294728.2	+	2	280	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	60	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R60K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478000													28	69					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265741	45265741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45265741C>A	ENST00000020926.3	-	6	1254	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	381	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGAATCGTCCTGGCCCAGCA	0.607000													21	33					5.26018e-13	6.65277e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418000													25	59					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939695	76939695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76939695C>A	ENST00000373344.5	-	9	1267	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ATRX_ENST00000395603.3_Missense_Mutation_p.E313D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTTAATCATCTCTTTGGGCA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	76					4.14194e-30	5.54707e-30	1	1	0
C1orf210	149466	broad.mit.edu	37	1	43748742	43748742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43748742G>A	ENST00000523677.1	-	3	289	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	19						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637000													9	18					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71908241	71908241	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71908241G>A	ENST00000258104.3	+	53	6333		c.e53+1		DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACCCAAGGTCAGTGCCCA	0.587000													9	11					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420243	74420243	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:74420243T>G	ENST00000377669.2	-	3	417	c.391A>C	c.(391-393)Aca>Cca	p.T131P	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.T131P	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	131					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATACTGATGTGATAACAGTT	0.488000													11	13					0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56602768	56602768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56602768G>A	ENST00000219162.3	+	3	193	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602000													66	133					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187446838	187446838	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187446838C>A	ENST00000406870.2	-	5	1721	c.1355_splice	c.e5+1	p.R452_splice	BCL6_ENST00000232014.4_Splice_Site_p.R452_splice|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Splice_Site_p.R452_splice|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	452					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGAAATCACCTGTTAACGAT	0.542000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								4	26					0.184627	0.186383	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46771675	46771675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771675C>A	ENST00000394809.4	-	3	1064	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	317					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGCAGCCCTGGAGGCCCT	0.657000													7	61					0.0381472	0.0390147	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39878617	39878617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39878617G>A	ENST00000303538.8	-	19	2688	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	717					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACTCACGATCGTATCTGGGGA	0.383000													12	24					0	0	1	0	0
CDRT4	284040	broad.mit.edu	37	17	15341382	15341382	+	Missense_Mutation	SNP	C	C	T	rs140524456	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15341382C>T	ENST00000312177.6	-	4	444	c.164G>A	c.(163-165)cGt>cAt	p.R55H	TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	55										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCGAGGGCACGCATGCATTC	0.488000													6	74					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99026725	99026725	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99026725C>A	ENST00000292478.4	-	5	1166		c.e5+1		ATP5J2-PTCD1_ENST00000413834.1_Splice_Site|PTCD1_ENST00000555673.1_Splice_Site|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGACATACCTGGAGGGCG	0.572000													88	61					4.21773e-46	5.6983e-46	1	1	0
SKIDA1	387640	broad.mit.edu	37	10	21804300	21804300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804300C>A	ENST00000449193.2	-	4	4704	c.2452G>T	c.(2452-2454)Gga>Tga	p.G818*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.G739*	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TCCAGTGTTCCTTCATTTGTC	0.423000													11	116					3.86212e-05	4.30401e-05	1	1	0
RTN3	10313	broad.mit.edu	37	11	63487004	63487004	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63487004C>T	ENST00000377819.5	+	3	1184	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	RTN3_ENST00000540798.1_Silent_p.L232L|RTN3_ENST00000339997.4_Silent_p.L325L|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	344					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGGGATCTGGTTCCCCA	0.408000													27	33					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44488723	44488723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44488723G>A	ENST00000398165.3	-	4	471	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CBS_ENST00000352178.5_Missense_Mutation_p.A71V|CBS_ENST00000359624.3_Missense_Mutation_p.A71V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.A71V|CBS_ENST00000398168.1_Missense_Mutation_p.A71V|CBS_ENST00000544202.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	71					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGAGATTTTGCCCTGAAACA	0.418000													13	32					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472640	47472640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472640G>A	ENST00000266581.4	-	2	612	c.146C>T	c.(145-147)aCt>aTt	p.T49I	AMIGO2_ENST00000429635.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000321382.3_Missense_Mutation_p.T49I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	49	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GACGATGTCAGTGGCACAGAT	0.547000													14	71					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100127886	100127886	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100127886A>C	ENST00000263174.4	+	2	432	c.57A>C	c.(55-57)aaA>aaC	p.K19N	PALMD_ENST00000605497.1_Missense_Mutation_p.K19N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	19					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAAAGAAAAATACAGGAAG	0.313000													4	49					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811790	7811790	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7811790C>T	ENST00000381059.3	+	3	573	c.354C>T	c.(352-354)agC>agT	p.S118S	VCX_ENST00000341408.4_Silent_p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.S118S(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637000													43	109					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18042548	18042548	+	Missense_Mutation	SNP	G	G	A	rs147642427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18042548G>A	ENST00000250018.2	-	10	1887	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	TPH1_ENST00000341556.2_Intron|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	442					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTAGATACTCGGCTTCCTGCT	0.498000													84	103					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310334	107310334	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107310334A>C	ENST00000415430.3	+	4	651	c.490A>C	c.(490-492)Aac>Cac	p.N164H	VSIG1_ENST00000217957.5_Missense_Mutation_p.N128H|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	128	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTCGGCCAAAACCAAGGCAT	0.448000													68	97					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49075921	49075921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49075921C>T	ENST00000344532.3	-	12	1624	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D127N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D406N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	401	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TACTTTCCATCAACTAGAAAC	0.383000													15	26					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27064985	27064985	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27064985C>T	ENST00000268766.6	+	7	1072	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	346						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGAAAGCCGGCGTCACGCGCT	0.682000													10	25					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34856219	34856219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34856219G>A	ENST00000415930.3	+	2	335	c.165G>A	c.(163-165)tgG>tgA	p.W55*	GPI_ENST00000586425.1_Nonsense_Mutation_p.W16*|GPI_ENST00000356487.5_Nonsense_Mutation_p.W16*	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	16					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCAGCAATGGTACCGCGAGC	0.667000													8	9					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643436	15643436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15643436C>T	ENST00000437605.2	+	9	770	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.L174F|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATGTGACATCCTCGTGGCCTA	0.468000													44	54					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395175	3395175	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3395175G>A	ENST00000378378.4	+	12	2218	c.1814_splice	c.e12+1	p.A605_splice	ARHGEF16_ENST00000413250.2_Splice_Site_p.A309_splice|ARHGEF16_ENST00000378371.2_Splice_Site_p.A317_splice|ARHGEF16_ENST00000378373.1_Splice_Site_p.A317_splice	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	605	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCGGACTCCGCGTAAGTGGG	0.682000													10	15					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443000													27	26					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766211	77766211	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766211T>A	ENST00000521891.2	+	10	7502	c.7054T>A	c.(7054-7056)Tcc>Acc	p.S2352T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2326T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2307T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2307T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2307	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGAAGACTCCATGGATGC	0.473000										HNSCC(33;0.089)			13	130					0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575410	86575410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86575410C>A	ENST00000322911.6	-	7	621	c.571G>T	c.(571-573)Gag>Tag	p.E191*	MTHFSD_ENST00000546093.1_Nonsense_Mutation_p.E29*|MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000360900.6_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.E191*	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	192					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCAACAAGCTCTTCAGGGATG	0.587000													13	26					1.15088e-07	1.35723e-07	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21343119	21343119	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21343119G>T	ENST00000215739.8	+	6	910	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652000													22	60					3.73808e-20	4.90194e-20	1	1	0
CROCC	9696	broad.mit.edu	37	1	17266488	17266488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17266488C>A	ENST00000375541.5	+	13	1777	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	570					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGAACAGCTGCAGCGCCT	0.697000													4	29					0.184627	0.186383	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37644027	37644027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37644027C>T	ENST00000356958.4	-	5	1032	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF585A_ENST00000292841.5_Silent_p.K203K|ZNF585A_ENST00000392157.2_Silent_p.K203K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.K203K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCATCTTGAGTGTGG	0.428000													63	83					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32348793	32348793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32348793G>T	ENST00000298386.2	+	6	605	c.534G>T	c.(532-534)agG>agT	p.R178S	RXFP2_ENST00000380314.1_Missense_Mutation_p.R178S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	178						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACATATCCAGGAAAGCATTTT	0.318000													7	87					8.12818e-05	8.99451e-05	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7673050	7673050	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7673050C>A	ENST00000299492.4	+	23	2799	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661Q|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692Q	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	804					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTTACACACCACTGACCACC	0.612000													13	32					0.000219431	0.000240782	1	1	0
MCHR1	0	broad.mit.edu	37	22	41077577	41077577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077577C>T	ENST00000249016.4	+	2	1610	c.914C>T	c.(913-915)aCg>aTg	p.T305M	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T179M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	305			T -> M.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCGCATGACGTCCTCAGTG	0.597000													20	31					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031425	33031425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33031425T>C	ENST00000340811.4	-	3	497	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	PKP2_ENST00000070846.6_Missense_Mutation_p.Y130C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	130					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGGAGCTGTACTGTGCTGT	0.512000													17	278					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73042564	73042564	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042564G>A	ENST00000604411.1	+	0	30525				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCTTTTGGAGCAGATATATT	0.343000													5	19					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389961	236389961	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236389961T>G	ENST00000354619.5	-	11	992	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	264					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAAAGATAATTTGCGCATAG	0.299000													41	65					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160113695	160113695	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160113695T>G	ENST00000538183.1	-	2	384	c.224A>C	c.(223-225)aAg>aCg	p.K75T	SOD2_ENST00000452684.2_Missense_Mutation_p.K75T|SOD2_ENST00000367055.4_Missense_Mutation_p.K75T|SOD2_ENST00000337404.4_Missense_Mutation_p.K75T|SOD2_ENST00000546087.1_Missense_Mutation_p.K29T|SOD2_ENST00000444946.2_Missense_Mutation_p.K75T|SOD2_ENST00000367054.2_Missense_Mutation_p.K75T	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	75					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GAACCTACCCTTGGCCAACGC	0.652000													6	36					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4029188	4029188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029188C>T	ENST00000294016.3	-	8	3146	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGGATGGCCCCGATGCAG	0.582000													19	35					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31695611	31695611	+	Silent	SNP	C	C	T	rs150261493		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31695611C>T	ENST00000375483.3	+	15	1806	c.1806C>T	c.(1804-1806)gaC>gaT	p.D602D	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	602						cytoplasm|extracellular region	lipid binding										GCAATGCAGACATTGACGTGT	0.493000													18	24					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	960934	960934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:960934G>A	ENST00000340908.4	+	1	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N	WNK1_ENST00000540360.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTCAAAAGGATTGTATAAA	0.308000													7	12					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505270	11505270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11505270T>C	ENST00000379237.1	-	15	2051	c.1657A>G	c.(1657-1659)Aac>Gac	p.N553D	USP6NL_ENST00000277575.5_Missense_Mutation_p.N570D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	553						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGCACGTTGTCGTACTGC	0.667000													33	44					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412624	220412624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220412624C>T	ENST00000344458.2	+	4	1148	c.563C>T	c.(562-564)gCt>gTt	p.A188V	TMEM198_ENST00000373883.3_Missense_Mutation_p.A188V			Q66K66	TM198_HUMAN	transmembrane protein 198	188	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACTGCCGCTGACTACTTC	0.711000													4	6					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494288	71494288	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71494288G>T	ENST00000296755.7	+	5	5404	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1702						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATCACATAAGATACCACCTA	0.507000													19	44					6.49762e-13	8.19883e-13	1	1	0
CAPZA2	830	broad.mit.edu	37	7	116533072	116533072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116533072A>G	ENST00000361183.2	+	3	267	c.128A>G	c.(127-129)gAc>gGc	p.D43G	CAPZA2_ENST00000458284.2_Missense_Mutation_p.D43G|CAPZA2_ENST00000490693.1_Missense_Mutation_p.D43G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	43					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTAATAATGACAATCTTCTC	0.338000													5	57					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508367	61508367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61508367C>T	ENST00000398571.2	-	38	5085	c.5009G>A	c.(5008-5010)cGt>cAt	p.R1670H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATTCATGACGAACTGCAGT	0.368000													14	25					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70765433C>A	ENST00000261776.5	-	14	1886	c.1626G>T	c.(1624-1626)cgG>cgT	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507000													6	118					0.00198382	0.00210581	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36219826	36219826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36219826G>T	ENST00000258840.6	-	9	1263	c.873C>A	c.(871-873)atC>atA	p.I291I	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.I291I|RALGAPA1_ENST00000382366.3_Silent_p.I291I|RALGAPA1_ENST00000307138.6_Silent_p.I291I			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	291					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTACAATAGATTGCTTCAT	0.413000													16	40					0.000422831	0.000460248	1	1	0
AGAP2	116986	broad.mit.edu	37	12	58126751	58126751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58126751C>T	ENST00000257897.3	-	6	638	c.553G>A	c.(553-555)Gct>Act	p.A185T	AGAP2_ENST00000547588.1_Missense_Mutation_p.A521T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	521	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGAGGAAGCACTGATCCTG	0.552000													82	154					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364911	11364911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11364911G>T	ENST00000304623.8	-	8	1458	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	CTNND2_ENST00000511377.1_Silent_p.I332I|CTNND2_ENST00000503622.1_Silent_p.I86I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I423I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	423					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTTCATAGATGGGATCTA	0.612000													7	43					8.12818e-05	8.99451e-05	1	1	0
WDR36	134430	broad.mit.edu	37	5	110441018	110441018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110441018T>G	ENST00000506538.2	+	10	1793	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C	WDR36_ENST00000505303.1_Missense_Mutation_p.F351C|WDR36_ENST00000513710.2_Missense_Mutation_p.F407C	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	407					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCAGTCATTTTCCACGGTA	0.348000													8	82					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549430	33549430	+	Missense_Mutation	SNP	C	C	T	rs147732973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33549430C>T	ENST00000504830.1	-	21	4519	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572000										HNSCC(64;0.19)			6	75					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33200467	33200467	+	Missense_Mutation	SNP	C	C	T	rs140200196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33200467C>T	ENST00000396033.2	-	13	1975	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E614K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E614K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E614K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	614	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACACCACACTCGCAGATGCCC	0.498000													28	59					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32698752	32698752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32698752C>A	ENST00000380250.3	+	6	1065	c.569C>A	c.(568-570)cCt>cAt	p.P190H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTTCATCCTGTAATAGAC	0.313000													7	19					0.0381472	0.0390147	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125131098	125131098	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125131098C>T	ENST00000522917.1	+	40	5509	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A1768V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1768						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGTTGAAGCTGAGTTCCAC	0.488000													4	19					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472244	231472244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472244C>T	ENST00000366645.1	-	1	1354	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	EXOC8_ENST00000360394.2_Silent_p.S416S			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	416					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGATCAGTTGCGAAACTGCTC	0.552000													7	53					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242662453	242662453	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242662453C>A	ENST00000313552.6	+	6	608	c.582C>A	c.(580-582)gtC>gtA	p.V194V	ING5_ENST00000406941.1_Silent_p.V194V	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	194					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCCACCAGGTCTCCTATGGGG	0.612000													7	47					8.12818e-05	8.99451e-05	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73658586	73658586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73658586C>A	ENST00000420326.2	-	4	903	c.744G>T	c.(742-744)aaG>aaT	p.K248N	RECQL5_ENST00000423245.2_Missense_Mutation_p.K221N|RECQL5_ENST00000340830.5_Missense_Mutation_p.K248N|RECQL5_ENST00000584999.1_Missense_Mutation_p.K248N|RECQL5_ENST00000317905.5_Missense_Mutation_p.K248N	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	248	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCAAGAGCCTTAAGGCAGA	0.512000								Other identified genes with known or suspected DNA repair function					24	308					9.90768e-06	1.12802e-05	1	1	0
CPE	1363	broad.mit.edu	37	4	166414350	166414350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166414350C>T	ENST00000402744.4	+	7	1421	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	381					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGATTTGTCCGAGACCTTCA	0.403000											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	29					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72081663	72081663	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72081663G>A	ENST00000438125.1	-	0	1392							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTACCTTTCTGTGTGCTATCA	0.433000													5	117					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677000													4	27					0.00024832	0.0002712	1	1	0
ACE2	59272	broad.mit.edu	37	X	15618961	15618961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15618961G>A	ENST00000427411.1	-	2	290	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ACE2_ENST00000252519.3_Missense_Mutation_p.A25V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	25					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AAATGTCTTGGCCTGTTCCTC	0.453000													37	58					0	0	1	0	0
TRBV6-5	0	broad.mit.edu	37	7	142180758	142180758	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142180758G>A	ENST00000390368.2	-	0	166																											GCTCTGTCCTGTCTTCAGGAC	0.527000													8	251					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885873	23885873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23885873G>A	ENST00000374561.5	-	1	412	c.45C>T	c.(43-45)tgC>tgT	p.C15C	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	15					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGACAGGCAGCACACCGCCT	0.642000													18	16					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767645	154767645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154767645G>A	ENST00000404141.1	-	6	989	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R279C			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	279					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGCAGCCTGCGTTTTGCTGCA	0.498000													16	23					0	0	1	0	0
POC1B-GALNT4	0	broad.mit.edu	37	12	89917296	89917296	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89917296C>A	ENST00000548729.1	-	3	1324	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R172M|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|GALNT4_ENST00000529983.2_Missense_Mutation_p.R344M	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					CTGCCACACCCTAAAAGACAG	0.517000													42	102					1.7489e-18	2.28119e-18	1	1	0
TMEM62	80021	broad.mit.edu	37	15	43444011	43444011	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43444011A>G	ENST00000260403.2	+	8	1169	c.890A>G	c.(889-891)cAc>cGc	p.H297R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	297						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCTTTTGATCACGACCTCTTT	0.373000													21	137					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205240	236205240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236205240C>A	ENST00000264187.6	-	4	1187	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	NID1_ENST00000366595.3_Missense_Mutation_p.D369Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	369					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCATCCACATCTATGACCTGA	0.532000													6	68					1.26484e-09	1.54084e-09	1	1	0
WDR7	23335	broad.mit.edu	37	18	54424107	54424107	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424107T>C	ENST00000254442.3	+	15	2494	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.D761D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	761										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCTTGATGATGAAGAGGAGG	0.413000													5	46					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57261676	57261676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57261676C>T	ENST00000264220.2	-	11	1533	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	466					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ACAGATGAAACCAGTCCTTCT	0.333000													10	13					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217975157C>T	ENST00000366933.4	+	9	1025	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294000													8	28					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56127304	56127304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56127304C>T	ENST00000275603.4	+	9	1255	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	CCT6A_ENST00000335503.3_Missense_Mutation_p.H301Y|CCT6A_ENST00000540286.1_Missense_Mutation_p.H315Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	346					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTTGGGACATGCAGGACT	0.383000													26	60					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96078450	96078450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96078450G>A	ENST00000233379.4	+	7	973	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	FAHD2A_ENST00000447036.1_Missense_Mutation_p.V274I	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	274							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCAGGGGATGTCATCCTAAC	0.557000													9	14					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7013989	7013989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:7013989C>T	ENST00000381309.3	+	14	2735	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	KDM4C_ENST00000543771.1_Missense_Mutation_p.R724W|KDM4C_ENST00000381306.3_Missense_Mutation_p.R724W|KDM4C_ENST00000442236.2_Missense_Mutation_p.R469W|KDM4C_ENST00000428870.2_Missense_Mutation_p.R411W|KDM4C_ENST00000535193.1_Missense_Mutation_p.R746W|KDM4C_ENST00000536108.1_Missense_Mutation_p.R543W	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	724					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTGCTGCGTACGGGTTCATGC	0.368000													6	117					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3410478	3410478	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3410478A>C	ENST00000436008.2	-	3	1319	c.857T>G	c.(856-858)cTc>cGc	p.L286R	SLC22A23_ENST00000406686.3_Missense_Mutation_p.L286R|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L5R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L5R|SLC22A23_ENST00000380298.2_Missense_Mutation_p.L286R			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	286					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAAGAACCTGAGTGTGCTGAA	0.463000													4	33					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935890	151935890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151935890C>A	ENST00000393902.3	-	3	844	c.277G>T	c.(277-279)Gag>Tag	p.E93*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E93*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	93										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCCCCTCCTCTTCTTGG	0.567000													6	83					2.0095e-06	2.31757e-06	1	1	0
KRT5	3852	broad.mit.edu	37	12	52914038	52914038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52914038G>A	ENST00000252242.4	-	1	433	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	15	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCTACGACTGCCCCCG	0.652000													9	11					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10225962	10225962	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10225962T>C	ENST00000315330.4	-	5	654	c.592A>G	c.(592-594)Aca>Gca	p.T198A	CLEC1A_ENST00000420265.2_Missense_Mutation_p.T106A|CLEC1A_ENST00000457018.2_Missense_Mutation_p.T165A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	198	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAAAGCCCTGTCCAATAAGAG	0.463000													27	24					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905914	23905914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905914G>T	ENST00000382298.3	-	10	12689	c.12101C>A	c.(12100-12102)gCc>gAc	p.A4034D	SACS_ENST00000382292.3_Missense_Mutation_p.A4034D|SACS_ENST00000402364.1_Missense_Mutation_p.A3284D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4034					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTCTTATGGCTTTTTCTTC	0.353000													20	44					1.10513e-12	1.39297e-12	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65787651	65787651	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65787651C>A	ENST00000312106.5	-	9	2222	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	695					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGCAGCTTCTCTTGGATCC	0.667000													19	47					9.7654e-05	0.000108049	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138882243	138882243	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138882243C>A	ENST00000370557.1	-	8	1713	c.686G>T	c.(685-687)aGt>aTt	p.S229I	ATP11C_ENST00000361648.2_Missense_Mutation_p.S232I|ATP11C_ENST00000327569.3_Missense_Mutation_p.S232I|ATP11C_ENST00000359686.2_Missense_Mutation_p.S232I|ATP11C_ENST00000370543.1_Missense_Mutation_p.S232I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	232					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATTACTGTAGATATT	0.363000													4	61					0.00909568	0.00947522	1	1	0
LILRA3	0	broad.mit.edu	37	19	54800090	54800090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54800090G>T	ENST00000391745.1	-	11	1643	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	LILRA3_ENST00000391744.3_Missense_Mutation_p.L362I|LILRA3_ENST00000251390.3_Missense_Mutation_p.L426I					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTGAGGGTCTCAGCT	0.483000													4	31					0.184627	0.186383	1	1	0
CHRM5	0	broad.mit.edu	37	15	34355192	34355192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355192C>T	ENST00000383263.5	+	3	944	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L92F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	92					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CACCTACATCCTCATGGGACG	0.517000													10	20					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114751266	114751266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114751266G>T	ENST00000334062.7	-	23	2370	c.2249C>A	c.(2248-2250)gCc>gAc	p.A750D	RASA3_ENST00000389544.4_Missense_Mutation_p.A718D	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	750					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTCCCACAGGCCTCTGTGGA	0.637000													16	30					1.15088e-07	1.35723e-07	1	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86172138	86172138	+	Nonsense_Mutation	SNP	G	G	A	rs140637481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86172138G>A	ENST00000431532.2	-	3	740	c.592C>T	c.(592-594)Cga>Tga	p.R198*	ZNHIT6_ENST00000370574.3_Nonsense_Mutation_p.R237*	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	237	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CAGGAATATCGCATACAACGT	0.348000													39	113					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75899557	75899557	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75899557C>A	ENST00000371091.5	-	7	1178	c.726_splice	c.e7+1	p.Q242_splice	SNUPN_ENST00000567134.1_Splice_Site_p.Q200_splice|SNUPN_ENST00000308588.5_Splice_Site_p.Q200_splice|SNUPN_ENST00000564644.1_Splice_Site_p.Q200_splice|SNUPN_ENST00000564675.1_Splice_Site_p.Q200_splice			O95149	SPN1_HUMAN	snurportin 1	200	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CCATCCCTACCTGGCAATCAT	0.502000													4	57					0.000602214	0.000649039	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115422292	115422292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115422292C>T	ENST00000337530.6	+	4	2390	c.2094C>T	c.(2092-2094)acC>acT	p.T698T	KIAA1958_ENST00000536272.1_Silent_p.T726T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	698										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAACTTCACCTTTGTCTCGT	0.607000													16	30					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258835	61258835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258835G>A	ENST00000295030.4	+	2	412	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	125					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGAAGAAAGCAGCAGGGGT	0.443000													41	72					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601967	25601967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25601967A>G	ENST00000232165.3	-	8	2486	c.1830T>C	c.(1828-1830)acT>acC	p.T610T	UBE3A_ENST00000397954.2_Silent_p.T613T|UBE3A_ENST00000438097.1_Silent_p.T590T|UBE3A_ENST00000566215.1_Silent_p.T590T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Silent_p.T590T	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	613					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCCAATCAGAGTAAACTGAC	0.338000													128	187					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999691	145999691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145999691G>A	ENST00000429371.2	-	6	733	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	ZNF34_ENST00000343459.4_Missense_Mutation_p.R215C	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGTGTACACGCTTATGGTTG	0.388000													11	20					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116675279	116675279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116675279G>A	ENST00000281928.3	-	2	510	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	102					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTACCCTGCAGTTCATGATGT	0.343000													29	36					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75975062	75975062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75975062G>A	ENST00000308508.5	-	7	4761	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529).	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCGGAAGCGGAAGCCTCCA	0.667000													8	28					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69966569	69966569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69966569G>A	ENST00000358913.5	+	19	4190	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	MYPN_ENST00000354393.2_Silent_p.Q959Q|MYPN_ENST00000540630.1_Silent_p.Q1234Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1234	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCATTCAGCCAGCCAAGA	0.483000													45	68					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226829634	226829634	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226829634G>A	ENST00000429204.1	-	5	2766	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ITPKB_ENST00000272117.3_Silent_p.I813I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	813							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657000													44	60					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72278016	72278016	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72278016C>A	ENST00000579490.1	+	1	366	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DNAI2_ENST00000582036.1_Missense_Mutation_p.F20L|DNAI2_ENST00000446837.2_Missense_Mutation_p.F20L|DNAI2_ENST00000311014.6_Missense_Mutation_p.F20L|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	20					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTGCAATTTCTCGGACCGCC	0.622000									Kartagener syndrome				37	62					2.09667e-21	2.75882e-21	1	1	0
FREM1	158326	broad.mit.edu	37	9	14808009	14808009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14808009G>A	ENST00000380881.4	-	18	3835	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	FREM1_ENST00000422223.2_Missense_Mutation_p.A1006V|FREM1_ENST00000380880.3_Missense_Mutation_p.A1006V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1006					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAGGACGCATGAAGTGG	0.453000													48	109					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537381	241537381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241537381G>A	ENST00000391984.2	+	10	2016	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	CAPN10_ENST00000354082.4_Missense_Mutation_p.R452H|CAPN10_ENST00000352879.4_Missense_Mutation_p.R73H|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R607H	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	607	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTGCCACATCGCTACGCCCAG	0.667000													10	9					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39425374G>A	ENST00000216099.7	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522000													19	64					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114190321	114190321	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114190321C>T	ENST00000259335.4	-	11	1584		c.e11+1		KIAA0368_ENST00000338205.5_Splice_Site	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACAAATTACCTGAATGTTG	0.408000													15	13					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598926	153598926	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153598926T>G	ENST00000368699.1	-	4	526	c.23A>C	c.(22-24)gAg>gCg	p.E8A	S100A13_ENST00000339556.4_Missense_Mutation_p.E8A|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Missense_Mutation_p.E8A|S100A13_ENST00000392623.1_Missense_Mutation_p.E8A|S100A13_ENST00000440685.2_Missense_Mutation_p.E8A	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	8					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTCCTCTAGCTCTGTCAGTGG	0.557000													16	72					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832308	44832308	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44832308A>T	ENST00000354340.4	-	4	2053	c.2002T>A	c.(2002-2004)Ttc>Atc	p.F668I	ZNF112_ENST00000536500.1_Missense_Mutation_p.F691I|ZNF112_ENST00000337401.4_Missense_Mutation_p.F674I	NM_013380.3	NP_037512.3			zinc finger protein 112																		GCCTTACTGAAGCCTTTACCA	0.448000													5	103					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388000													5	79					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103312351	103312351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312351A>G	ENST00000520539.1	-	23	3589	c.2983T>C	c.(2983-2985)Tcg>Ccg	p.S995P	UBR5_ENST00000220959.4_Missense_Mutation_p.S995P|UBR5_ENST00000521922.1_Missense_Mutation_p.S989P	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	995					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTCTCAACGAACGTCTCATC	0.463000													14	107					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11182139	11182139	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11182139A>T	ENST00000361445.4	-	48	6783	c.6707T>A	c.(6706-6708)cTc>cAc	p.L2236H	MTOR_ENST00000376838.1_Missense_Mutation_p.L441H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2236	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCAGCCAATGAGGCCCGAGTT	0.532000													23	20					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682286	114682286	+	Missense_Mutation	SNP	G	G	A	rs144510124	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114682286G>A	ENST00000393296.1	-	2	540	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	SYT6_ENST00000369547.1_Missense_Mutation_p.R70C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGTGTGACGCATGATGTGC	0.627000													4	49					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639670	3639670	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3639670T>C	ENST00000294008.3	-	12	4609	c.3969A>G	c.(3967-3969)tcA>tcG	p.S1323S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1323	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGTGAGGCATGAGGACGGTG	0.637000								Direct reversal of damage					22	135					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15103568	15103568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15103568G>T	ENST00000396410.4	+	8	776	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PDXDC1_ENST00000535621.2_Missense_Mutation_p.D227Y|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D204Y|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D200Y|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D136Y|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D245Y|PDXDC1_ENST00000325823.7_Missense_Mutation_p.D212Y|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D199Y	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	227					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACTGATTAAAGATGATATAGA	0.388000													5	119					0.0215528	0.0221649	1	1	0
NCF1	653361	broad.mit.edu	37	7	74191612	74191612	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74191612G>T	ENST00000289473.4	+	2	142		c.e2-1		NCF1_ENST00000443956.3_Splice_Site	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1						cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTTTCCCCCAGGTGTACATGT	0.587000													7	59					0.0477658	0.0488009	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129571302	129571302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129571302C>A	ENST00000421865.2	+	13	1877	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	610	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCATATGACCTTGAAGAAGA	0.413000													9	86					2.27111e-07	2.66951e-07	1	1	0
TDRD7	23424	broad.mit.edu	37	9	100222971	100222971	+	Missense_Mutation	SNP	C	C	A	rs17852595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100222971C>A	ENST00000355295.4	+	7	1662	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H	TDRD7_ENST00000422139.2_Missense_Mutation_p.P382H	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	456			P -> L (in dbSNP:rs17852595).		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACAGTTCCTCCTTTAATGATT	0.368000													29	29					4.22769e-11	5.25533e-11	1	1	0
CCNL2	81669	broad.mit.edu	37	1	1334048	1334048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1334048C>T	ENST00000400809.3	-	2	297	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	CCNL2_ENST00000408918.4_Missense_Mutation_p.A98T	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	98	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTAGCCATGGCCACCTAGAGT	0.517000													10	28					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493264	220493264	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220493264C>T	ENST00000358055.3	+	3	701	c.189C>T	c.(187-189)agC>agT	p.S63S	SLC4A3_ENST00000373760.2_Silent_p.S63S|SLC4A3_ENST00000317151.3_Silent_p.S63S|SLC4A3_ENST00000273063.6_Silent_p.S63S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.S63S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	63					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAGCCGCAGCTACA	0.657000													4	19					0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132374652	132374652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132374652C>T	ENST00000372478.4	-	7	1471	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	424										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGCAGTGTTGCGGAGGCCAGG	0.602000													10	24					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140236494	140236494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140236494G>A	ENST00000307360.5	+	1	861	c.861G>A	c.(859-861)acG>acA	p.T287T	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T287T|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACCCACGATAAGAAGGA	0.363000													32	52					0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636428	43636428	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43636428T>G	ENST00000431635.2	-	5	759	c.612_splice	c.e5+1	p.K204_splice	EBNA1BP2_ENST00000236051.2_Splice_Site_p.K149_splice	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	149					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTCTTACCTTCTGCATCTG	0.453000													58	103					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683425	6683425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683425T>C	ENST00000321535.4	+	2	368	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	80										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GTCAGCTGTTTGGTATGTTAA	0.478000													7	131					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152476093	152476093	+	Missense_Mutation	SNP	C	C	T	rs139798654	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152476093C>T	ENST00000427231.2	-	73	10946	c.10744G>A	c.(10744-10746)Gtt>Att	p.V3582I	NEB_ENST00000409198.1_Missense_Mutation_p.V3339I|NEB_ENST00000397345.3_Missense_Mutation_p.V3582I|NEB_ENST00000603639.1_Missense_Mutation_p.V3582I|NEB_ENST00000604864.1_Missense_Mutation_p.V3582I|NEB_ENST00000172853.10_Missense_Mutation_p.V3339I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3582					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCAAAACGATACCAAGC	0.478000													33	36					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38095361	38095361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38095361G>T	ENST00000290399.6	+	5	1086	c.473G>T	c.(472-474)aGg>aTg	p.R158M	SIM2_ENST00000430056.3_Missense_Mutation_p.R158M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	158					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGATAGAGAGGTCGTTCTTT	0.557000													8	79					0.000442599	0.00048047	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106819612	106819612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106819612G>A	ENST00000276185.4	+	14	1463	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	488	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGTACTGCCGCCTCTTGCTG	0.562000													53	74					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96346512	96346512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96346512C>A	ENST00000266736.2	+	2	261	c.155C>A	c.(154-156)gCt>gAt	p.A52D		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	52					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTATAAAAGCTATTGGTCCT	0.318000													18	51					3.41278e-10	4.19267e-10	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	132092321	132092321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092321G>A	ENST00000370836.2	-	2	725	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	HS6ST2_ENST00000521489.1_Missense_Mutation_p.R104C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	104						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGTCCCAGCGTCGCCTGAGG	0.721000													3	9					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197653	132197653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197653G>T	ENST00000378673.2	-	3	1859	c.993C>A	c.(991-993)ccC>ccA	p.P331P	GDF9_ENST00000296875.2_Silent_p.P331P			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAAGGGCTTCTTCA	0.488000													9	76					1.12685e-05	1.27857e-05	1	1	0
DTX3L	151636	broad.mit.edu	37	3	122287567	122287567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122287567C>T	ENST00000296161.4	+	3	820	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	211					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGGAAGCCACTCAGTCAGCA	0.423000													22	28					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124180977	124180977	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124180977A>C	ENST00000303372.5	+	12	1456	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	TCTN2_ENST00000426174.2_Missense_Mutation_p.K442T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACTTGGCAAGCCTGTCCGA	0.438000													35	50					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324368	24324368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24324368A>G	ENST00000175238.6	+	6	529	c.446A>G	c.(445-447)gAt>gGt	p.D149G	ADAM7_ENST00000380789.1_Missense_Mutation_p.D149G|ADAM7_ENST00000441335.2_Missense_Mutation_p.D149G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	149					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATACTCAGATGAGGGAGAA	0.388000													9	103					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219841	11219841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11219841C>A	ENST00000409790.1	+	22	2709	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.L809M	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	827								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGTAGCCCTCCTGGACCTCCC	0.607000													24	231					2.79863e-10	3.44159e-10	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32740275	32740275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32740275C>T	ENST00000421745.2	+	55	10921	c.10787C>T	c.(10786-10788)tCt>tTt	p.S3596F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3596					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGACTCTAAAAATGCA	0.408000													17	35					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138189867	138189867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1740_splice	c.e17+1	p.R580_splice		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592000													8	68					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005147	25005147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005147C>A	ENST00000382114.4	-	8	1749	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	522						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAAAGAAATCTCTCCTGTCG	0.393000													5	48					0.000602214	0.000649039	1	1	0
RPN2	6185	broad.mit.edu	37	20	35812582	35812582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35812582G>T	ENST00000237530.6	+	2	324		c.e2-1		RPN2_ENST00000373622.5_Splice_Site	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCCCCCCAAGGTTCAAGCAC	0.502000													19	38					6.94344e-10	8.49476e-10	1	1	0
MUC5AC	4586	broad.mit.edu	37	11	1155652	1155652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155652G>A	ENST00000356191.2	+	4	340	c.340G>A	c.(340-342)Gcc>Acc	p.A114T						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTGCGGTGCCGCCTACGAGGA	0.627000													8	9					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603042	31603042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31603042G>A	ENST00000376033.2	+	22	5528	c.5294G>A	c.(5293-5295)aGt>aAt	p.S1765N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1765N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1765	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTGGCACTAGTGACAAGGTC	0.577000													8	13					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36124733	36124733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124733C>T	ENST00000262633.4	+	7	934	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RBM42_ENST00000588161.1_Missense_Mutation_p.P247S|RBM42_ENST00000360475.4_Missense_Mutation_p.P248S|RBM42_ENST00000592202.1_Missense_Mutation_p.P223S|RBM42_ENST00000589871.1_Missense_Mutation_p.P255S|RBM42_ENST00000589559.1_Missense_Mutation_p.P248S|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	277	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCAGCTGGCCCTGCAGTCAT	0.731000													3	1					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51019850	51019850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51019850G>A	ENST00000406938.2	-	4	797	c.581_splice	c.e4+1	p.R194_splice	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	194					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTGACTCACCGCTCCATGGTC	0.587000													14	12					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110953232	110953232	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110953232C>T	ENST00000368911.3	-	6	826		c.e6+1		CDK19_ENST00000323817.3_Splice_Site|CDK19_ENST00000413605.2_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GACCAACTTACCAATGGCCTT	0.338000													23	68					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047635	99047635	+	Missense_Mutation	SNP	C	C	T	rs149057508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047635C>T	ENST00000376586.2	+	13	1655	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FARP1_ENST00000595437.1_Missense_Mutation_p.A440V|FARP1_ENST00000319562.6_Missense_Mutation_p.A440V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	440					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACAAGCAGGCGGACGGAGCC	0.682000													17	18					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969286	140969286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140969286C>A	ENST00000298296.1	+	4	613	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	205	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGCCTCTCACAAGAGC	0.448000													21	153					6.44725e-10	7.89499e-10	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13346039	13346039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13346039G>A	ENST00000360228.5	-	33	5116	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1707V|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1707					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAATGATGGCATAGATGAA	0.567000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432912	153432912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153432912C>A	ENST00000436816.1	+	3	947	c.728C>A	c.(727-729)cCt>cAt	p.P243H	MFAP3_ENST00000322602.5_Missense_Mutation_p.P243H|MFAP3_ENST00000439768.2_Missense_Mutation_p.P97H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	243						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCTCTTCCACCTCTTATTCTA	0.473000													8	70					1.12685e-05	1.27857e-05	1	1	0
EEF1A1	1915	broad.mit.edu	37	6	74229613	74229613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74229613G>T	ENST00000316292.9	-	1	1128	c.137C>A	c.(136-138)gCt>gAt	p.A46D	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46D|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TACCTCAGCAGCCTCCTTCTC	0.418000													35	62					6.04917e-29	8.08967e-29	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37583875	37583875	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37583875T>C	ENST00000399151.3	+	6	791	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	236					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCCCTGTTGGACTCAAA	0.398000													43	77					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350288	76350288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350288G>A	ENST00000476707.1	+	1	212	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000478060.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAACCCTAACGTGGCATTGTT	0.448000													10	16					0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31309770	31309770	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31309770G>A	ENST00000380490.3	+	1	126	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	10					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGGCAATGTTGTCCTGTTGGC	0.522000													13	9					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25434265	25434265	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434265G>A	ENST00000278886.6	-	24	4044	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.T975M	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1324					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCGGACTTCGTGTTCTTTTC	0.552000													12	29					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17587726	17587726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17587726C>T	ENST00000246069.6	+	4	779	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Missense_Mutation_p.R128W	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	145	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGATCTCAATCGGGCTTGTAT	0.383000													37	56					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47202229	47202229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47202229C>A	ENST00000539589.1	-	5	566	c.224G>T	c.(223-225)gGc>gTc	p.G75V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G75V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	75					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCAGTGTGCCATACTGGGG	0.642000													3	11					1	1	1	1	0
ZNF75D	7626	broad.mit.edu	37	X	134421643	134421643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421643G>T	ENST00000370766.3	-	7	3668	c.959C>A	c.(958-960)cCt>cAt	p.P320H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTATCACCAGGATTTTCCCT	0.383000													19	157					5.35267e-07	6.25286e-07	1	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1863574	1863574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1863574G>T	ENST00000357103.4	+	2	316	c.65G>T	c.(64-66)aGa>aTa	p.R22I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	22					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATAAGGCTCAGAAAAGGGCAC	0.473000													6	64					0.00116845	0.00124821	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58698849	58698849	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58698849G>A	ENST00000254286.4	+	12	1016	c.936G>A	c.(934-936)ttG>ttA	p.L312L	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTCTATGTTGCCAGGATTTC	0.358000													15	160					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154754131	154754131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154754131G>A	ENST00000334398.3	-	3	489	c.344C>T	c.(343-345)aCa>aTa	p.T115I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T115I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	115					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAAGAGTGTGGTCTCATC	0.443000													121	200					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39406518	39406518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39406518C>T	ENST00000221431.6	-	15	1535	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SARS2_ENST00000448145.2_Missense_Mutation_p.R459H|SARS2_ENST00000598831.1_Missense_Mutation_p.R107H|SARS2_ENST00000430193.3_Missense_Mutation_p.R459H|SARS2_ENST00000594171.1_Missense_Mutation_p.R269H|SARS2_ENST00000600042.1_Missense_Mutation_p.R461H|CTC-360G5.8_ENST00000599996.1_Silent_p.P528P	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	459					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GATGAGAAGGCGGGGGACAGC	0.687000													21	62					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140454392	140454392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140454392G>A	ENST00000274031.3	-	3	935	c.299C>T	c.(298-300)aCa>aTa	p.T100I	SETD7_ENST00000404104.3_Missense_Mutation_p.T100I|SETD7_ENST00000506866.2_Missense_Mutation_p.T100I|SETD7_ENST00000406354.1_3'UTR	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	100					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTCCCATCTGTGTCATATTC	0.507000													9	59					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933548	62933548	+	Missense_Mutation	SNP	G	G	A	rs151029409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62933548G>A	ENST00000306494.6	-	7	1252	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	418					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGAAGGCAGGTTGCCAGTAG	0.493000													11	33					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703452	1703452	+	Silent	SNP	G	G	A	rs139637633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1703452G>A	ENST00000305513.7	-	5	1403	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	412							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418000													10	143					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126145236	126145236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145236G>T	ENST00000263578.5	+	6	720	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	FOXRED1_ENST00000532125.1_Missense_Mutation_p.G202C|FOXRED1_ENST00000442061.2_Missense_Mutation_p.G46C|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	216						integral to membrane|mitochondrion	oxidoreductase activity|protein binding	p.G216C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGAGGACGAAGGTTGGTTTGA	0.537000													4	93					0.00116845	0.00124821	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36846682	36846682	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36846682G>T	ENST00000279024.4	-	12	2914	c.2643C>A	c.(2641-2643)gcC>gcA	p.A881A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	881										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCTGCGTGGGCTTTCTCCA	0.582000													7	37					0.248553	0.25002	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114176796	114176796	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114176796C>A	ENST00000259335.4	-	20	2433	c.2434G>T	c.(2434-2436)Gca>Tca	p.A812S	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A634S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATGAGGGTGCCATCTGCCCG	0.537000													28	64					1.42536e-11	1.77909e-11	1	1	0
TSPAN17	26262	broad.mit.edu	37	5	176078862	176078862	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176078862C>T	ENST00000405525.2	+	3	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TSPAN17_ENST00000508164.1_Silent_p.C82C|TSPAN17_ENST00000515708.1_Silent_p.C82C|TSPAN17_ENST00000310032.8_Silent_p.C82C|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000503045.1_Silent_p.C82C	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	82						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCTGGCTGCATTGGGGCCC	0.582000													30	50					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58560003	58560003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58560003G>T	ENST00000317147.5	-	45	6825	c.6493C>A	c.(6493-6495)Ctc>Atc	p.L2165I	CNOT1_ENST00000569240.1_Missense_Mutation_p.L2160I|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1016I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2165					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATTGGTGAGAATCCGGGGA	0.393000													6	94					0.00198382	0.00210581	1	1	0
RDX	5962	broad.mit.edu	37	11	110124681	110124681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124681G>A	ENST00000343115.4	-	9	1268	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RDX_ENST00000405097.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000528498.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.Q181*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	317	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTTCCAACTGCTTCTGATGT	0.373000													35	45					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117797590	117797590	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117797590T>C	ENST00000350763.4	-	22	6091	c.5680A>G	c.(5680-5682)Act>Gct	p.T1894A	TNC_ENST00000345230.3_Missense_Mutation_p.T1257A|TNC_ENST00000542877.1_Missense_Mutation_p.T1531A|TNC_ENST00000423613.2_Missense_Mutation_p.T1621A|TNC_ENST00000346706.3_Missense_Mutation_p.T1348A|TNC_ENST00000537320.1_Missense_Mutation_p.T1257A|TNC_ENST00000340094.3_Missense_Mutation_p.T1530A|TNC_ENST00000341037.4_Missense_Mutation_p.T1712A|TNC_ENST00000535648.1_Missense_Mutation_p.T1439A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1894	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGTAGCAGTCAAGTCTCTT	0.512000													3	54					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55148190	55148190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55148190C>T	ENST00000396331.1	+	16	2171	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	LILRB1_ENST00000396315.1_Missense_Mutation_p.A607V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.A607V|LILRB1_ENST00000396321.2_Missense_Mutation_p.A605V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A589V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A605V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A589V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A606V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A606V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A656V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	605					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCTGCTGCATCTGAAGCC	0.647000										HNSCC(37;0.09)			7	24					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573609	48573609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48573609T>C	ENST00000340553.3	+	3	517	c.256T>C	c.(256-258)Tat>Cat	p.Y86H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	86					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAGTCCATTGTATGACATAGA	0.433000													32	49					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072024	17072024	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17072024C>A	ENST00000359963.3	-	1	1676	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	473					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGTTCCCACCTTGGTGCACT	0.507000													12	114					7.93312e-07	9.21973e-07	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5463309	5463309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5463309G>A	ENST00000345221.3	-	4	1261	c.707C>T	c.(706-708)gCg>gTg	p.A236V	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A236V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A236V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A236V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A236V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A236V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	236					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTACCACCGCTGCCCATGG	0.552000													23	38					0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109276098C>T	ENST00000393310.1	+	2	201	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000332345.6_Missense_Mutation_p.R12C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R24C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R74C|LIMS1_ENST00000393314.2_Missense_Mutation_p.R74C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R16C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R49C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R12C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	12	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CACTTGCGAGCGCTGCAAGGG	0.562000													20	58					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123290158	123290158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123290158C>A	ENST00000349780.4	-	10	1104	c.925G>T	c.(925-927)Gag>Tag	p.E309*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E309*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	309					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTTTCTTCTCTGTAGCAATT	0.358000													4	65					1	1	1	1	0
PGM2	55276	broad.mit.edu	37	4	37857286	37857286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37857286G>A	ENST00000381967.4	+	13	1760	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	PGM2_ENST00000537241.1_Missense_Mutation_p.V394M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	554					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAATGGAGGCGTGGCCACCAT	0.468000													5	40					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404300	197404300	+	Missense_Mutation	SNP	G	G	A	rs62636275		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197404300G>A	ENST00000367397.1	+	5	2308	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	CRB1_ENST00000367399.2_Missense_Mutation_p.G991R|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R|CRB1_ENST00000367400.3_Missense_Mutation_p.G1103R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1103					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G1103R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368000													35	51					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538043	4538043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4538043T>C	ENST00000306390.6	-	2	1413	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	318	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTGTCTTTTTGGGCCTG	0.592000													4	53					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156940493	156940493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156940493G>A	ENST00000257527.4	-	8	765	c.687C>T	c.(685-687)gaC>gaT	p.D229D	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Silent_p.D229D|ADAM19_ENST00000394020.1_Silent_p.D231D	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	229	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGTCCTGGTCTCGTCGAT	0.493000													30	43					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962651	73962651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73962651G>T	ENST00000373468.1	-	3	2392	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L581M			Q5QGS0	K2022_HUMAN	KIAA2022	581					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGGTGCCAGCTTGGCATAT	0.448000													24	42					1.85244e-09	2.25385e-09	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12735514	12735514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12735514C>T	ENST00000343325.4	+	3	343	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R29*|ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAACCAAGGACGAAATCTAAG	0.363000													3	13					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202344895	202344895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202344895C>T	ENST00000194530.3	+	12	1619	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	418					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACTGGGAATTCTAGGGCTGCC	0.378000													5	206					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112647497	112647497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112647497G>T	ENST00000393104.2	+	7	957	c.597G>T	c.(595-597)gaG>gaT	p.E199D	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E210D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	210	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGCATTGGAGGGGAAGGCTA	0.353000													45	84					2.20914e-33	2.96736e-33	1	1	0
CD274	29126	broad.mit.edu	37	9	5457177	5457177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5457177G>A	ENST00000381577.3	+	3	237	c.151G>A	c.(151-153)Gct>Act	p.A51T	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	51	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTAGACCTGGCTGCACTAAT	0.403000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								28	42					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32688447	32688447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32688447C>T	ENST00000421745.2	+	24	5073	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1647					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAGCAACAGGTTGGAGA	0.423000													9	13					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599032	70599032	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70599032T>C	ENST00000302516.5	+	19	2739	c.2528T>C	c.(2527-2529)cTc>cCc	p.L843P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	843					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCAGCATTCCTCAATGAAAAC	0.537000													6	83					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79784456	79784456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79784456C>T	ENST00000372371.3	-	5	633	c.496G>A	c.(496-498)Gta>Ata	p.V166I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	166					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACTTCTTTACGGTACCTATA	0.323000													22	45					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58448959	58448959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58448959G>T	ENST00000357552.3	-	35	3732	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338000													8	40					0.000157383	0.00017284	1	1	0
CCDC82	79780	broad.mit.edu	37	11	96117847	96117847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117847G>A	ENST00000278520.5	-	3	493	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CCDC82_ENST00000542662.1_Missense_Mutation_p.S22F|CCDC82_ENST00000423339.2_Missense_Mutation_p.S22F			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	22							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATCAACTCGAGATTTCTGCTC	0.348000													20	29					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	491132	491132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:491132C>T	ENST00000230449.4	-	26	2749	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E467K	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	872					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTGCTTTCGGGTGTCAGG	0.383000													7	157					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71943759	71943759	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71943759A>G	ENST00000298229.2	+	15	2006	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	INPPL1_ENST00000541756.1_Missense_Mutation_p.H359R|INPPL1_ENST00000538751.1_Missense_Mutation_p.H359R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	601					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTTTCACACACCTCTTCTGG	0.592000													21	52					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790544	4790544	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4790544A>C	ENST00000380383.1	-	1	624	c.625T>G	c.(625-627)Tta>Gta	p.L209V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L202V			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	202						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATCAATTAATCCACAGATG	0.398000													63	65					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191660	8191660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191660C>T	ENST00000600128.1	-	19	2767	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FBN3_ENST00000270509.2_Missense_Mutation_p.G785S|FBN3_ENST00000601739.1_Missense_Mutation_p.G785S			Q75N90	FBN3_HUMAN	fibrillin 3	785	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGGAGCCGGCCAGGTTC	0.662000													8	14					0	0	1	0	0
WBSCR16	81554	broad.mit.edu	37	7	74470046	74470046	+	Missense_Mutation	SNP	C	C	T	rs140481718	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74470046C>T	ENST00000503250.2	-	9	1262	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	WBSCR16_ENST00000329959.4_Missense_Mutation_p.R398H			Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	398										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACATCGGATGCGGGAAACCTG	0.542000													23	12					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95169331	95169331	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95169331T>C	ENST00000371501.4	-	6	721	c.600_splice	c.e6+1	p.Q200_splice	MYOF_ENST00000371489.1_Splice_Site_p.Q200_splice|MYOF_ENST00000359263.4_Splice_Site_p.Q200_splice|MYOF_ENST00000358334.5_Splice_Site_p.Q200_splice|MYOF_ENST00000371502.4_Splice_Site_p.Q200_splice			Q9NZM1	MYOF_HUMAN	myoferlin	200	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTTGCTACCTGGAAGTCCTG	0.502000													15	228					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246829045	246829045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246829045C>T	ENST00000366513.4	+	11	2285	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	672					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCTTGCTGTGCATAGCAACGG	0.448000													34	62					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31199645	31199645	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31199645G>T	ENST00000254108.7	+	8	904		c.e8-1		FUS_ENST00000380244.3_Splice_Site|FUS_ENST00000474990.1_Splice_Site|FUS_ENST00000568685.1_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTCACTAAAGGCCCTCGGGA	0.418000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								24	38					1.55469e-16	2.00715e-16	1	1	0
ACO1	48	broad.mit.edu	37	9	32425917	32425917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32425917C>A	ENST00000379923.1	+	12	1476	c.1270C>A	c.(1270-1272)Ctt>Att	p.L424I	ACO1_ENST00000309951.5_Missense_Mutation_p.L424I|ACO1_ENST00000541043.1_Missense_Mutation_p.L325I	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	424					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGAATTCACCCTTGCTCATGG	0.413000													4	56					0.00909568	0.00947522	1	1	0
ZNF7	7553	broad.mit.edu	37	8	146068162	146068162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146068162A>C	ENST00000528372.1	+	5	1910	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	ZNF7_ENST00000325241.6_Missense_Mutation_p.E557A|ZNF7_ENST00000544249.1_Missense_Mutation_p.E461A|ZNF7_ENST00000446747.2_Missense_Mutation_p.E568A|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AAATGTAATGAATGTGGGAAA	0.463000													37	74					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4027225	4027225	+	Missense_Mutation	SNP	G	G	T	rs78111743	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4027225G>T	ENST00000381638.2	-	2	599	c.475C>A	c.(475-477)Cta>Ata	p.L159I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	159							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGGCCTGTAGTTGTCTGATG	0.478000													12	17					0.00136819	0.00146042	1	1	0
EHD3	30845	broad.mit.edu	37	2	31489453	31489453	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31489453C>T	ENST00000322054.5	+	6	1776	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	497	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCATGCTGGACGACGACGAGT	0.602000													26	43					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3191053	3191053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3191053G>A	ENST00000396878.3	+	6	1560	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF213_ENST00000416391.2_Missense_Mutation_p.R204H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R362H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R362H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCTGGTGCGCCACCAAGGC	0.677000													12	18					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428000													8	124					0.00448238	0.00472561	1	1	0
MFAP5	8076	broad.mit.edu	37	12	8803149	8803149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8803149T>C	ENST00000359478.2	-	8	471	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000433590.2_Missense_Mutation_p.Y70C|MFAP5_ENST00000396549.2_Missense_Mutation_p.Y85C|MFAP5_ENST00000543369.1_Missense_Mutation_p.Y73C|MFAP5_ENST00000540087.1_Missense_Mutation_p.Y85C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	95						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATGCACAGAGTAGAGCCTTGT	0.433000													14	26					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174255	150174255	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174255T>C	ENST00000307271.3	+	5	1959	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	462						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGGAGCCTCGTCTTCACC	0.587000													8	83					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179576924	179576924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179576924G>A	ENST00000467460.1	-	8	1078	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PEX5L_ENST00000476138.1_Missense_Mutation_p.R207C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R248C|PEX5L_ENST00000485199.1_Missense_Mutation_p.R215C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.R142C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R58C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R142C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R191C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R226C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCCCCAGCGATGTTCTTTG	0.358000													20	37					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551661	99551661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99551661C>A	ENST00000373034.4	-	6	4736	c.3061G>T	c.(3061-3063)Gat>Tat	p.D1021Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.D973Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D974Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1021					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCGCTGACATCTTTCCCAAAG	0.562000													16	40					6.31663e-08	7.49729e-08	1	1	0
ZFP42	132625	broad.mit.edu	37	4	188924381	188924381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924381G>A	ENST00000326866.4	+	4	828	c.420G>A	c.(418-420)tcG>tcA	p.S140S	ZFP42_ENST00000509524.1_Silent_p.S140S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGAGAATTCGCTTGAGTATT	0.423000													49	67					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77211710	77211710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77211710G>T	ENST00000253506.5	+	6	2166	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	NFATC1_ENST00000591814.1_Missense_Mutation_p.E599D|NFATC1_ENST00000592223.1_Missense_Mutation_p.E586D|NFATC1_ENST00000427363.2_Missense_Mutation_p.E599D|NFATC1_ENST00000586434.1_Missense_Mutation_p.E586D|NFATC1_ENST00000329101.4_Missense_Mutation_p.E586D|NFATC1_ENST00000587635.1_Missense_Mutation_p.R571I|NFATC1_ENST00000542384.1_Missense_Mutation_p.E599D|NFATC1_ENST00000397790.2_Missense_Mutation_p.E127D|NFATC1_ENST00000318065.5_Missense_Mutation_p.E586D|NFATC1_ENST00000545796.1_Missense_Mutation_p.E127D	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	599					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCTGGTGGAGAAGCAGAGCA	0.622000													4	38					0.00909568	0.00947522	1	1	0
SYT6	148281	broad.mit.edu	37	1	114640391	114640391	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114640391T>C	ENST00000393296.1	-	6	1550	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A	SYT6_ENST00000369547.1_Silent_p.A406A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	491	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCCAGTGTGCGATGGGCT	0.567000													36	35					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897758	75897758	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897758T>C	ENST00000229214.4	-	7	780	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	253	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCCTTGCGTTTATTCACATTT	0.353000													9	150					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9763660	9763660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9763660T>C	ENST00000448622.1	-	6	1408	c.1246A>G	c.(1246-1248)Agt>Ggt	p.S416G	ZNF562_ENST00000537617.1_Missense_Mutation_p.S300G|ZNF562_ENST00000541032.1_Missense_Mutation_p.S379G|ZNF562_ENST00000590155.1_Missense_Mutation_p.S415G|ZNF562_ENST00000453792.2_Missense_Mutation_p.S347G|ZNF562_ENST00000293648.4_Missense_Mutation_p.S344G|ZNF562_ENST00000453372.2_Missense_Mutation_p.S416G	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATGTTTACTACGATGGGAA	0.403000													18	39					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	8998833	8998833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8998833C>T	ENST00000305997.3	-	13	1737	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	513					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATGTCTCGAGGCTATTT	0.373000													39	51					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977389	30977389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30977389G>A	ENST00000262519.8	+	8	2873	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACGGCTTGCCGTATGCTCTAT	0.672000													28	42					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110446649	110446649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110446649G>T	ENST00000265175.5	+	16	2835	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	SEC24B_ENST00000399100.2_Missense_Mutation_p.R892M|SEC24B_ENST00000504968.2_Missense_Mutation_p.R957M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	927					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATGAGAATAAGGTGTACTAAA	0.323000													5	38					0.000602214	0.000649039	1	1	0
SYNCRIP	10492	broad.mit.edu	37	6	86332297	86332297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86332297C>T	ENST00000355238.6	-	8	1117	c.911G>A	c.(910-912)cGt>cAt	p.R304H	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R304H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CATTAACCTACGCCTTGCCTG	0.433000													83	194					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72209577	72209577	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72209577G>A	ENST00000438125.1	-	0	578							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCGGAGCATCGACTATGACAA	0.418000													4	74					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70031690	70031690	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70031690C>T	ENST00000394295.4	+	4	371	c.123C>T	c.(121-123)agC>agT	p.S41S	ANXA4_ENST00000409920.1_Silent_p.S41S|ANXA4_ENST00000536030.1_5'UTR	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	39					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCATTATTAGCGTCCTTGCCT	0.557000													9	15					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182557	59182557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59182557C>A	ENST00000380516.2	-	15	2089	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Nonsense_Mutation_p.E237*	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	668	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTCAATTTCTAGGCGCTCT	0.458000													59	97					5.86059e-21	7.70434e-21	1	1	0
UNC5A	90249	broad.mit.edu	37	5	176297468	176297468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176297468C>T	ENST00000329542.4	+	6	1093	c.819C>T	c.(817-819)aaC>aaT	p.N273N	UNC5A_ENST00000261961.3_Silent_p.N233N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	273	TSP type-1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCCCGCAACGGAGGGGAGG	0.642000													4	58					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121279065	121279065	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121279065G>T	ENST00000297848.3	+	25	3286		c.e25-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCCTTTACAGAATCACTTCC	0.393000													5	184					0.00198382	0.00210581	1	1	0
SLC6A9	6536	broad.mit.edu	37	1	44468188	44468188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44468188G>A	ENST00000372310.3	-	7	1019	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SLC6A9_ENST00000360584.2_Missense_Mutation_p.A358V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A174V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.A220V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A304V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A220V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	358						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCACCTTGGCCTCCAGGAT	0.637000													28	39					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24886401	24886401	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24886401C>A	ENST00000396432.2	-	16	3795	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E890D|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1102					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCTTTCCGACTCTTCCTTCG	0.398000													16	116					6.49762e-13	8.19883e-13	1	1	0
C5orf56	441108	broad.mit.edu	37	5	131796479	131796479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131796479G>A	ENST00000337752.2	+	4	445	c.314G>A	c.(313-315)tGc>tAc	p.C105Y	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	105										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						tggcagcaatgcagcagtgaa	0.418000													7	5					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874815	117874815	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117874815G>T	ENST00000357099.4	+	4	588	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000265224.4_Missense_Mutation_p.D119Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D66Y			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	119					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGCAGACCCAGATCTGAGGGA	0.368000													38	147					1.30998e-17	1.70068e-17	1	1	0
USF1	7391	broad.mit.edu	37	1	161011486	161011486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161011486G>A	ENST00000368021.3	-	6	631	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	USF1_ENST00000368019.1_Intron|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q84*|USF1_ENST00000368020.1_Nonsense_Mutation_p.Q143*	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	143					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGAGCCCTGGGTAGTAACA	0.587000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	49					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338707	5338707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5338707G>A	ENST00000396872.2	+	8	1132	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R324H|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R310H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	324					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCTACATGCGCTTTGATGTG	0.711000													18	8					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349048	72349048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72349048C>T	ENST00000389916.4	+	15	2207	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	690					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTCTGATGCCCAGCACCTG	0.627000													25	36					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96333731	96333731	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96333731C>A	ENST00000348459.5	+	8	597	c.492C>A	c.(490-492)tcC>tcA	p.S164S	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Silent_p.S164S|HELLS_ENST00000371332.4_Silent_p.S164S|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Silent_p.S164S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	164					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAAACTCCTCCTCTACTAATC	0.313000													4	70					0.00909568	0.00947522	1	1	0
SHOX2	6474	broad.mit.edu	37	3	157815991	157815991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157815991T>C	ENST00000490689.2	-	5	1931	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	SHOX2_ENST00000425436.3_Missense_Mutation_p.Y274C|SHOX2_ENST00000441443.2_Missense_Mutation_p.Y133C|SHOX2_ENST00000389589.4_Missense_Mutation_p.Y298C|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y262C			O60902	SHOX2_HUMAN	short stature homeobox 2	274					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACATCATGTAGGGCGCGTG	0.706000													5	99					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98735147	98735147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98735147C>A	ENST00000336273.3	+	11	1890	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	MTDH_ENST00000519934.1_Missense_Mutation_p.S465Y	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	521					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S521F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCGAGCCATCTGTAATCTTA	0.353000													11	97					0.00136819	0.00146042	1	1	0
PHKA2	5256	broad.mit.edu	37	X	18966863	18966863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18966863G>T	ENST00000379942.4	-	5	1201	c.537_splice	c.e5+1	p.A179_splice		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	179					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATACTTACAGCGACTTTATA	0.398000													22	323					4.87955e-14	6.21198e-14	1	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148747676	148747676	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148747676T>G	ENST00000514349.1	+	5	1253	c.674T>G	c.(673-675)tTt>tGt	p.F225C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.F315C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	315					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTAACCTTTGCAGGCTTC	0.567000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	132					0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881994	40881994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40881994G>A	ENST00000539317.1	+	8	781	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.T276T(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458000													36	65					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	335150	335150	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:335150C>T	ENST00000419235.2	+	4	253	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.P59S|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	59					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCGGATTCACCATCTCAAAA	0.323000													7	45					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156757835	156757835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156757835C>T	ENST00000347377.6	+	20	2673	c.2242C>T	c.(2242-2244)Ctg>Ttg	p.L748L	CYFIP2_ENST00000541131.1_Silent_p.L673L|CYFIP2_ENST00000522463.1_Silent_p.L552L|CYFIP2_ENST00000442283.2_Silent_p.L33L|CYFIP2_ENST00000435847.2_Silent_p.L447L|CYFIP2_ENST00000521420.1_Silent_p.L722L|CYFIP2_ENST00000377576.3_Silent_p.L748L|CYFIP2_ENST00000318218.6_Silent_p.L773L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	773					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATGAAACACTGCTGAAGCA	0.483000													3	35					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45441826	45441826	+	Silent	SNP	C	C	T	rs140105027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45441826C>T	ENST00000415258.1	+	3	465	c.324C>T	c.(322-324)agC>agT	p.S108S	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S108S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	108					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACACCATCAGCGACACCATAG	0.507000													37	42					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388596	1388596	+	Silent	SNP	C	C	T	rs151313714	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1388596C>T	ENST00000324803.4	+	1	3257	c.297C>T	c.(295-297)caC>caT	p.H99H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGT	0.647000													26	100					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816817	101816817	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101816817G>A	ENST00000370418.3	-	6	1215	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCCACTCCCGCTGTAACTCC	0.453000													17	215					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116267769	116267769	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116267769C>T	ENST00000374140.2	+	12	1154	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RGS3_ENST00000350696.5_Silent_p.C315C|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000343817.5_Silent_p.C34C|RGS3_ENST00000317613.6_Silent_p.C203C|RGS3_ENST00000394646.3_Silent_p.C34C	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	315	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCATCTGCTGCGACTCTCCAG	0.577000													9	10					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74490600	74490600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74490600C>T	ENST00000422840.2	-	25	3318	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1107						Golgi membrane|integral to membrane	receptor binding	p.E1107K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418000													52	66					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37933942	37933942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37933942A>G	ENST00000346872.3	-	7	849	c.788T>C	c.(787-789)gTg>gCg	p.V263A	IKZF3_ENST00000467757.1_Missense_Mutation_p.V207A|IKZF3_ENST00000439167.2_Missense_Mutation_p.V190A|IKZF3_ENST00000394189.2_Missense_Mutation_p.V81A|IKZF3_ENST00000377944.3_Missense_Mutation_p.V120A|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.V168A|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000583368.1_Missense_Mutation_p.V16A|IKZF3_ENST00000377958.2_Missense_Mutation_p.V176A|IKZF3_ENST00000351680.3_Missense_Mutation_p.V224A|IKZF3_ENST00000535189.1_Missense_Mutation_p.V229A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	263					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGTTTTGCCACATTGCTTGC	0.388000													3	69					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30665636G>T	ENST00000542965.2	+	6	1090	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	PRR14_ENST00000300835.4_Missense_Mutation_p.D212Y			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577000													64	116					1.20869e-33	1.624e-33	1	1	0
GTPBP2	54676	broad.mit.edu	37	6	43590374	43590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43590374C>T	ENST00000307126.5	-	10	1462	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	GTPBP2_ENST00000307114.7_Missense_Mutation_p.R400H|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	488							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCACCTTGCGAAGCAGTGC	0.572000													37	80					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720538	116720538	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116720538G>T	ENST00000331677.3	+	3	569	c.125G>T	c.(124-126)aGc>aTc	p.S42I	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.S61I|DSE_ENST00000452085.3_Missense_Mutation_p.S42I|DSE_ENST00000359564.2_Missense_Mutation_p.S42I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	42					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AACTACGACAGCCATCCCATG	0.547000													4	36					0.150653	0.152692	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76729777	76729777	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76729777G>T	ENST00000287239.4	+	6	1335		c.e6-1		KAT6B_ENST00000372724.1_Splice_Site|KAT6B_ENST00000372711.1_Splice_Site|KAT6B_ENST00000372725.1_Splice_Site|KAT6B_ENST00000372714.1_Splice_Site	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTATATTACAGGATAATATGC	0.328000													11	20					3.07112e-06	3.52574e-06	1	1	0
NNT	23530	broad.mit.edu	37	5	43655960	43655960	+	Missense_Mutation	SNP	G	G	A	rs139987446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43655960G>A	ENST00000264663.5	+	15	2299	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_ENST00000512996.2_Missense_Mutation_p.R562H|NNT_ENST00000344920.4_Missense_Mutation_p.R693H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	693					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATTGCCAAACGCATCCAGATT	0.348000													15	30					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78808156	78808156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78808156C>T	ENST00000376752.4	+	21	3107	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	877	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAAAGCAACGGAAGAGTCC	0.473000													10	22					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140182354	140182354	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182354C>T	ENST00000522353.2	+	1	1572	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.D524D|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687000													5	115					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232457829	232457829	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232457829C>T	ENST00000313965.2	+	1	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542000													26	52					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21095831	21095831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21095831G>T	ENST00000269221.3	+	6	530	c.420G>T	c.(418-420)gaG>gaT	p.E140D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E92D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	140										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATTACCAGAGAAACGGAGTC	0.478000											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	63					9.57634e-11	1.18454e-10	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53756346	53756346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53756346G>A	ENST00000288139.3	+	13	1689	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R504H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R504H	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	504					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTAGCCGACGCTGGCGTCGC	0.458000													17	30					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4624310	4624310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4624310C>T	ENST00000269260.2	+	15	1439	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	ARRB2_ENST00000346341.2_Silent_p.D399D|ARRB2_ENST00000572457.1_Silent_p.D210D|ARRB2_ENST00000574954.1_Silent_p.D210D|ARRB2_ENST00000381488.6_Silent_p.D387D|ARRB2_ENST00000571206.1_Silent_p.D210D|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.D423D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	402	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGATGACGACTATGATG	0.542000													29	62					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10772820	10772820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772820A>C	ENST00000075503.3	-	11	1712	c.1192T>G	c.(1192-1194)Ttg>Gtg	p.L398V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	398						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTACCACCAACTCTGGTACT	0.532000										HNSCC(73;0.22)			64	130					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50862008	50862008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50862008G>A	ENST00000359139.3	+	10	1484	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	PPP6R2_ENST00000395744.3_Missense_Mutation_p.E364K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E365K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.E364K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	364						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CATCAACCAGGAGCTCTGCCG	0.622000													18	28					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19173709	19173709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19173709G>T	ENST00000446113.2	+	7	710	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E67*	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGACAGGCCAGAACCAACTGG	0.348000													24	44					1.1804e-14	1.50872e-14	1	1	0
LETMD1	25875	broad.mit.edu	37	12	51447581	51447581	+	Silent	SNP	G	G	A	rs144819671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51447581G>A	ENST00000418425.2	+	4	469	c.450G>A	c.(448-450)aaG>aaA	p.K150K	LETMD1_ENST00000550929.1_Silent_p.K81K|LETMD1_ENST00000262055.4_Silent_p.K137K|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	137	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACGTCACCAAGTGTCTTTTCC	0.408000													18	226					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40574286	40574286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40574286C>A	ENST00000339296.5	+	5	1477	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.P342H|ZNF621_ENST00000431278.1_Missense_Mutation_p.P231H	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAATTGCACCCTGTGGAGAAG	0.507000													4	29					3.59834e-05	4.01776e-05	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390529	8390529	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8390529C>A	ENST00000471889.1	+	5	1361	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L360I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L326I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	326					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGACAGCCTCCCGTCGCA	0.706000													5	8					0.00198382	0.00210581	1	1	0
RGS12	6002	broad.mit.edu	37	4	3432328	3432328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3432328G>A	ENST00000336727.3	+	17	4664	c.3760G>A	c.(3760-3762)Gcc>Acc	p.A1254T	RGS12_ENST00000382788.3_Missense_Mutation_p.A1254T|RGS12_ENST00000344733.5_Missense_Mutation_p.A1254T|RGS12_ENST00000338806.4_Missense_Mutation_p.A606T|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1254						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGGGAGAGCGCCTCCCAGCC	0.677000													7	5					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14868629	14868629	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14868629C>T	ENST00000398334.1	-	7	1761	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	FANCB_ENST00000324138.3_Silent_p.K498K	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	498					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTACTTACAGCTTCAAAGAAG	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				66	105					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927767	92927767	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:92927767A>G	ENST00000373079.3	-	1	800	c.537T>C	c.(535-537)gaT>gaC	p.D179D	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	179	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGGGGTGTTATCCTGCACCT	0.448000													11	115					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748813	41748813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41748813C>T	ENST00000301178.4	+	11	1528	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AXL_ENST00000359092.3_Silent_p.F437F|AXL_ENST00000593513.1_Silent_p.F178F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	446						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCTGCCTTCTCGTGGCCCT	0.567000													39	43					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509119	7509119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7509119C>T	ENST00000359920.6	+	4	1079	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R118W|CTD-2207O23.3_ENST00000593531.1_Silent_p.C233C	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	276	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCACCACGTGCGGACGCTCAA	0.637000													22	28					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70347223	70347223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70347223G>A	ENST00000333646.6	+	21	3086	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	MED12_ENST00000374102.1_Missense_Mutation_p.D963N|MED12_ENST00000374080.3_Missense_Mutation_p.D963N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	963					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAACCGGTCCGATGGCTCCTC	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	21					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6640146	6640146	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640146C>T	ENST00000299427.6	-	3	150	c.89_splice	c.e3-1	p.T30_splice	TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	30					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGGGGGCAGCCTGTAGGGTC	0.577000													11	78					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47262041	47262041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:47262041C>T	ENST00000311191.6	+	6	1106	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRCH1_ENST00000389798.3_Nonsense_Mutation_p.Q293*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.Q293*	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	293										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAAGCATGCCAGATTAAGAC	0.408000													12	40					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70646364	70646364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70646364G>T	ENST00000298596.6	+	3	2895	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.D938Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.D828Y	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	938						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TAGTGGAATAGATTCTCCACG	0.507000													21	21					7.45023e-12	9.32672e-12	1	1	0
VILL	50853	broad.mit.edu	37	3	38047959	38047959	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38047959T>C	ENST00000283713.6	+	19	2491	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P	VILL_ENST00000465644.1_Missense_Mutation_p.L460P|VILL_ENST00000383759.2_Missense_Mutation_p.L742P			O15195	VILL_HUMAN	villin-like	742					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACTTGCGGCTATCCAGATGG	0.622000													9	93					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86125208	86125208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86125208C>A	ENST00000394518.2	+	7	4004	c.3909C>A	c.(3907-3909)ttC>ttA	p.F1303L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F1303L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1303					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAGTACTTTCCCACCTGGGG	0.527000													27	37					4.7796e-09	5.77107e-09	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22805397	22805397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22805397G>A	ENST00000361524.3	-	4	2633	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R829*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R609*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	829					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTTTTCTCGCAAGTGTTTT	0.458000			T	PAX5	ALL								53	88					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6711198	6711198	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6711198A>G	ENST00000309577.6	-	4	529	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CHD4_ENST00000544040.1_Silent_p.P115P|CHD4_ENST00000544484.1_Silent_p.P119P|CHD4_ENST00000357008.2_Silent_p.P122P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	122					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTCTTTCTTAGGTCCAAGCT	0.517000													5	34					0	0	1	0	0
PCDHB15	0	broad.mit.edu	37	5	140627342	140627342	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140627342T>C	ENST00000231173.3	+	1	2196	c.2196T>C	c.(2194-2196)ttT>ttC	p.F732F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		732					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCCCTTTCCAGGGCATC	0.622000													12	162					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022514	51022514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022514C>A	ENST00000599957.1	-	3	653	c.456G>T	c.(454-456)caG>caT	p.Q152H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.Q152H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	152						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACTCGAAGGCCTGCGTGGGCA	0.647000													22	45					1.10513e-12	1.39297e-12	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34710693	34710693	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34710693A>G	ENST00000544216.3	+	8	1124	c.1047A>G	c.(1045-1047)ggA>ggG	p.G349G	LSM14A_ENST00000540746.2_Silent_p.G308G|LSM14A_ENST00000433627.5_Silent_p.G349G	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	349					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACAGTGAAGGAAATGCCGATG	0.353000													8	33					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288491	57288491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57288491C>T	ENST00000543872.2	+	2	1343	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	SMG8_ENST00000300917.5_Missense_Mutation_p.T360I|SMG8_ENST00000578922.1_Missense_Mutation_p.T360I|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	360					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGTCATTGTACTGTGAAGGAC	0.532000													17	40					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331418	140331418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140331418G>T	ENST00000371506.2	-	5	641	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	ENTPD8_ENST00000472938.1_Missense_Mutation_p.S153Y|ENTPD8_ENST00000344119.2_Missense_Mutation_p.S153Y	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	153						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTCCACGGGAGACCGGCCCAG	0.642000													6	54					5.18039e-06	5.91835e-06	1	1	0
JUP	3728	broad.mit.edu	37	17	39928078	39928078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39928078G>T	ENST00000393931.3	-	2	147	c.29C>A	c.(28-30)cCt>cAt	p.P10H	JUP_ENST00000540235.1_Missense_Mutation_p.P10H|JUP_ENST00000310706.5_Missense_Mutation_p.P10H|JUP_ENST00000393930.1_Missense_Mutation_p.P10H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	10					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCTTGATAGGCTGCTCCAT	0.602000													4	10					0.000602214	0.000649039	1	1	0
SCAP	22937	broad.mit.edu	37	3	47459175	47459175	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459175C>T	ENST00000265565.5	-	17	3001	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	SCAP_ENST00000545718.1_Silent_p.P470P|SCAP_ENST00000441517.2_Silent_p.P607P	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	863	Interaction with SREBF2 (By similarity).|Poly-Pro.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGAGGGAAGGCGGCGGAGGGC	0.662000													3	12					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126312126	126312126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126312126C>A	ENST00000337318.3	-	5	1165	c.954G>T	c.(952-954)gaG>gaT	p.E318D	FAM53B_ENST00000392754.3_Missense_Mutation_p.E318D|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	318										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCAGTCCTCTGTCCCTG	0.682000													3	12					0.115264	0.117355	1	1	0
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:619547C>T	ENST00000255622.6	+	1	175	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000496514.1_Silent_p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632000													18	20					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201324	133201324	+	Missense_Mutation	SNP	G	G	T	rs148788180	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201324G>T	ENST00000320574.5	-	49	6863	c.6820C>A	c.(6820-6822)Ctg>Atg	p.L2274M	POLE_ENST00000535270.1_Missense_Mutation_p.L2247M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2274					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGCCACTCCAGGGTCTCCAGG	0.607000								DNA polymerases (catalytic subunits)					6	57					1.06961e-07	1.26574e-07	1	1	0
FREM2	341640	broad.mit.edu	37	13	39438616	39438616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39438616G>T	ENST00000280481.7	+	16	8072	c.7856G>T	c.(7855-7857)aGa>aTa	p.R2619I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2619					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGTCCATCAGAGGTTCCACT	0.433000													34	65					4.65686e-17	6.02554e-17	1	1	0
TBC1D10C	374403	broad.mit.edu	37	11	67174430	67174430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67174430G>A	ENST00000312390.5	+	8	810	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.A261T	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	261	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGCCTCTTCGCCCGCTCCCT	0.687000													87	111					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75093199	75093199	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75093199G>A	ENST00000220003.9	+	8	1387	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSK_ENST00000567571.1_Missense_Mutation_p.A220T|CSK_ENST00000439220.2_Missense_Mutation_p.A220T|CSK_ENST00000309470.9_Missense_Mutation_p.A220T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	220	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAACAAAGTCGCCGTCAAGTG	0.632000											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	12					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646233	101646233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101646233C>A	ENST00000342239.3	-	13	3605	c.3514G>T	c.(3514-3516)Gag>Tag	p.E1172*	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.E394*|DNMBP_ENST00000540316.1_Nonsense_Mutation_p.E84*|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E1148*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1148	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGCTCCTCCAGGGTCTTC	0.542000													49	77					4.01344e-20	5.26117e-20	1	1	0
STAB1	23166	broad.mit.edu	37	3	52553295	52553295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52553295A>G	ENST00000321725.6	+	49	5126	c.5050A>G	c.(5050-5052)Aat>Gat	p.N1684D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1684	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATATACCTCAATGACTTCGC	0.642000													6	134					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395143	160395143	+	Silent	SNP	G	G	A	rs144011121		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160395143G>A	ENST00000320767.2	+	1	196	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	3					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATGGGTTCGCTGGGTTCTA	0.393000													30	36					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567000													4	45					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078168	170078168	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170078168A>C	ENST00000458537.3	+	1	758	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	SKIL_ENST00000413427.2_Missense_Mutation_p.K17Q|SKIL_ENST00000426052.2_5'UTR|SKIL_ENST00000259119.4_Missense_Mutation_p.K17Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	17					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCAACTAAAAAACTGAATGG	0.388000													30	46					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75873473	75873473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75873473G>A	ENST00000377636.3	-	17	3495	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S987L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1042L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S214L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1050	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGCAGCGACATCATGTC	0.468000													12	22					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47309244	47309244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47309244T>G	ENST00000396220.1	-	8	1024	c.1002A>C	c.(1000-1002)gaA>gaC	p.E334D	PREX1_ENST00000371941.3_Missense_Mutation_p.E334D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	334	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCATGACTTCAGTGTTGA	0.577000													9	55					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469172	21469172	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21469172C>A	ENST00000298681.4	+	4	521	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	122						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTTGGAGTCGCTGGCATTGCA	0.502000													91	215					2.22755e-30	2.98475e-30	1	1	0
FAM66D	0	broad.mit.edu	37	8	11986660	11986660	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11986660G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CACAGAGGTCGACACGGGTCT	0.547000													19	5					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38058337	38058337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38058337C>A	ENST00000373062.3	-	3	318	c.220G>T	c.(220-222)Gta>Tta	p.V74L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	74					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTGGCTCTACTCTTGCCACT	0.383000													4	132					0.014758	0.0152625	1	1	0
SEMA4F	10505	broad.mit.edu	37	2	74902971	74902971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74902971G>T	ENST00000357877.2	+	12	1727	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q371H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	526	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCTGGCCCAGGACCCAGTCT	0.587000													22	33					1.55795e-14	1.98882e-14	1	1	0
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627000													8	3					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592436	50592436	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50592436A>G	ENST00000442544.2	+	7	1777	c.1161A>G	c.(1159-1161)atA>atG	p.I387M	DCC_ENST00000412726.1_Missense_Mutation_p.I235M|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.I42M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	387	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTTACGGATACTTGGGGTGG	0.428000													13	135					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103003137	103003137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103003137G>A	ENST00000435765.1	+	7	838	c.427G>A	c.(427-429)Gat>Aat	p.D143N	PSMC2_ENST00000292644.3_Missense_Mutation_p.D143N|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.D6N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTAGCGTGGATAGAAATAA	0.343000													36	32					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181680	65181680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:65181680G>T	ENST00000310045.7	-	2	1669	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	56						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTCTTCAGCTTTTGGTTG	0.378000													38	64					1.30015e-28	1.73796e-28	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166775891	166775891	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166775891G>T	ENST00000243344.7	-	13	1706	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	523						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAGCATAAGAGGGATTGTGTT	0.353000													5	93					1.23904e-05	1.39987e-05	1	1	0
ANO5	203859	broad.mit.edu	37	11	22281285	22281285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22281285T>G	ENST00000324559.8	+	15	1945	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	543						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACAAAAATGGGTAAGCTG	0.363000													7	28					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931382	176931382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931382G>T	ENST00000501403.2	-	6	1274	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.L365M|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	365	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGTAGCGGCAGGCTCTGGGGT	0.672000													4	19					0.000602214	0.000649039	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49444195	49444195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49444195C>T	ENST00000301067.7	-	11	3175	c.3176G>A	c.(3175-3177)gGg>gAg	p.G1059E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACTACCTTCCCTATGGGACT	0.577000													7	14					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080562	58080562	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58080562G>T	ENST00000357272.4	+	5	952		c.e5-1		FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000493452.1_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTGTGGCAGGAATCGAGCC	0.562000													15	175					1.49906e-05	1.69169e-05	1	1	0
TUFM	7284	broad.mit.edu	37	16	28855565	28855565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28855565C>T	ENST00000313511.3	-	7	1046	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	300						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CACCACAGTGCGGATGTTCTT	0.582000													31	44					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3344777	3344777	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3344777T>C	ENST00000336727.3	+	3	2899	c.1995T>C	c.(1993-1995)ctT>ctC	p.L665L	RGS12_ENST00000382788.3_Silent_p.L665L|RGS12_ENST00000306648.7_Silent_p.L63L|RGS12_ENST00000344733.5_Silent_p.L665L|RGS12_ENST00000543385.1_Silent_p.L665L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	665						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGATCTTGAGGTAATTT	0.443000													4	33					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261783	39261783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39261783G>T	ENST00000391415.1	+	1	200	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	48	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGTATCCAGCTGCTGCAGG	0.652000													4	36					0.0477658	0.0488009	1	1	0
LGI3	203190	broad.mit.edu	37	8	22006277	22006277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22006277C>T	ENST00000306317.2	-	8	1332	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	LGI3_ENST00000424267.2_Missense_Mutation_p.S324N	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	348					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCCTTGGAGCTGTCAGCCAC	0.617000													17	20					0	0	1	0	0
IGHV5-51	0	broad.mit.edu	37	14	107034966	107034966	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107034966C>A	ENST00000390626.2	-	0	172																											TACAGGAGATCTTCAGAGACT	0.567000													7	16					5.18039e-06	5.91835e-06	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906548	13906548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13906548G>A	ENST00000279593.3	-	3	922	c.713C>T	c.(712-714)aCc>aTc	p.T238I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	238					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T238I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAGATGTAGGTGGCTTCTTC	0.512000													4	106					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34172001	34172001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34172001C>T	ENST00000592237.1	+	18	1641	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	TAF15_ENST00000588240.1_Silent_p.Y566Y|TAF15_ENST00000311979.3_Silent_p.Y563Y			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGGGGCTACGGAGGAGACC	0.552000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								11	116					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36962871	36962871	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36962871A>G	ENST00000262865.4	+	13	1413	c.1324A>G	c.(1324-1326)Att>Gtt	p.I442V	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	442					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CATTGTACCCATTCTTGTGCT	0.512000													81	128					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680174	30680174	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680174G>T	ENST00000376406.3	-	5	2192	c.1545C>A	c.(1543-1545)gcC>gcA	p.A515A	MDC1_ENST00000376405.2_Silent_p.A515A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	515	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGTGGAGGCTTGGCTTC	0.512000								Other conserved DNA damage response genes					46	64					2.13384e-23	2.82555e-23	1	1	0
ACHE	43	broad.mit.edu	37	7	100491612	100491612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491612G>A	ENST00000302913.4	-	2	380	c.242C>T	c.(241-243)cCg>cTg	p.P81L	ACHE_ENST00000241069.5_Missense_Mutation_p.P81L|ACHE_ENST00000419336.2_Missense_Mutation_p.P81L|ACHE_ENST00000412389.1_Missense_Mutation_p.P81L|ACHE_ENST00000411582.1_Missense_Mutation_p.P81L|ACHE_ENST00000428317.1_Missense_Mutation_p.P81L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	81					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CTTGGGCTCCGGTGGCAGAAA	0.622000													25	45					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25259041	25259041	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25259041G>A	ENST00000216962.4	+	8	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	314					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCAAGTCGTCCAAGTTCG	0.617000													5	48					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790682	76790682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76790682G>A	ENST00000287239.4	+	18	6589	c.6100G>A	c.(6100-6102)Gcc>Acc	p.A2034T	KAT6B_ENST00000372724.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1851T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A1742T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	2034	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGCCATATGCCCAGCAGCC	0.527000													7	39					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35673458	35673458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:35673458G>A	ENST00000396081.1	-	8	1867	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	HERPUD2_ENST00000311350.3_Missense_Mutation_p.R355C	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	355					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCCATAAGACGCTCCTTTCAA	0.403000													5	150					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159368	18159368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18159368C>T	ENST00000396275.2	+	3	980	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGGATCCCGGAAGATGCC	0.542000													5	69					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153429	133153429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133153429C>T	ENST00000388996.4	-	10	1832	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R471H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R351H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTGCGGAAACGCTCTTTATT	0.453000													6	80					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303001	135303001	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135303001T>C	ENST00000316077.9	-	16	2629	c.2409A>G	c.(2407-2409)aaA>aaG	p.K803K	MAP7D3_ENST00000370663.5_Silent_p.K785K|MAP7D3_ENST00000370661.1_Silent_p.K768K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	803						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TAAAATATGTTTTTGGCTCTT	0.383000													7	334					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880742	39880742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880742G>T	ENST00000221265.3	-	3	467	c.137C>A	c.(136-138)cCc>cAc	p.P46H	PAF1_ENST00000221266.7_Missense_Mutation_p.P36H|PAF1_ENST00000595564.1_Missense_Mutation_p.P36H	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	46					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGAACTTGGGGTCGAAGGG	0.537000													10	99					0.00621372	0.00652201	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86315723	86315723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86315723G>A	ENST00000263857.6	-	6	1074	c.696C>T	c.(694-696)caC>caT	p.H232H	POLR1A_ENST00000409681.1_Silent_p.H232H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	232					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCTGTCCTGTGCACCATGG	0.567000													7	49					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695277	99695277	+	Silent	SNP	G	G	A	rs146058965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695277G>A	ENST00000303887.5	-	9	1722	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACACCCCCGACTAGCAGGA	0.502000													20	419					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173900869	173900869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173900869A>G	ENST00000264111.6	+	28	2901	c.2714A>G	c.(2713-2715)cAc>cGc	p.H905R	RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H906R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H762R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H686R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H735R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H753R			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	906	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAAGGAACCACAGGGCCTAC	0.478000													5	69					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699090	52699090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52699090G>A	ENST00000293525.5	+	5	854	c.802G>A	c.(802-804)Gac>Aac	p.D268N	KRT86_ENST00000423955.2_Missense_Mutation_p.D268N|KRT86_ENST00000544024.1_Missense_Mutation_p.D268N	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	268	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACAGCCGGGACCTGAACAT	0.572000													23	34					0	0	1	0	0
PCDHGA1	0	broad.mit.edu	37	5	140711783	140711783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711783C>T	ENST00000517417.1	+	1	1532	c.1532C>T	c.(1531-1533)aCt>aTt	p.T511I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCGACACTGGGGTCCTG	0.557000													53	103					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89599166	89599166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89599166G>A	ENST00000402738.1	+	19	2316	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	HERC3_ENST00000543130.1_Missense_Mutation_p.E137K|HERC3_ENST00000264345.3_Missense_Mutation_p.E693K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	693					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCACCCTGGAGCCTCTGCT	0.512000													22	33					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125464168	125464168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125464168C>T	ENST00000328599.3	+	1	1121	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	334					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCATTTTGCATATCCACCA	0.478000													19	39					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550197	39550197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550197G>T	ENST00000265707.5	+	17	1945	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G610W|ADAM18_ENST00000541111.1_Missense_Mutation_p.G48W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	634	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338000													5	48					3.59834e-05	4.01776e-05	1	1	0
NEK8	284086	broad.mit.edu	37	17	27068168	27068168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27068168G>A	ENST00000268766.6	+	13	1839	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	602						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGAGGCAGTCGGGCACCCTGT	0.577000													16	42					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102054794G>A	ENST00000318222.3	-	8	1825	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PKD2L1_ENST00000338519.3_Silent_p.A406A|PKD2L1_ENST00000353274.3_Silent_p.A481A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A481A(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507000													35	50					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83296072	83296072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296072G>A	ENST00000563800.1	-	2	1868	c.143C>T	c.(142-144)gCa>gTa	p.A48V	CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000562019.1_Missense_Mutation_p.A21V|CPEB1_ENST00000568128.1_Missense_Mutation_p.A21V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	21					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGCAGGTGCTTCCTGGTT	0.403000													13	28					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617555	8617555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617555C>T	ENST00000337907.3	-	6	1184	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	RERE_ENST00000400907.2_Missense_Mutation_p.V184I|RERE_ENST00000400908.2_Missense_Mutation_p.V184I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	184	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TACCATTTGACGTTCATGAGG	0.418000													19	32					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558819	9558819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9558819C>T	ENST00000360635.3	-	3	904	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000490426.1_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTGCCCTTGCGAAACATTTT	0.373000													82	159					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111932994	111932994	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111932994C>A	ENST00000375741.2	+	16	2008	c.1758C>A	c.(1756-1758)acC>acA	p.T586T	ARHGEF7_ENST00000426073.2_Silent_p.T408T|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.T408T|ARHGEF7_ENST00000370623.3_Silent_p.T493T|ARHGEF7_ENST00000317133.5_Silent_p.T565T|ARHGEF7_ENST00000375737.5_Silent_p.T483T|ARHGEF7_ENST00000218789.5_Silent_p.T408T|ARHGEF7_ENST00000478679.1_Silent_p.T330T|ARHGEF7_ENST00000375736.4_Silent_p.T408T|ARHGEF7_ENST00000375739.2_Silent_p.T536T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	586					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAACCCCACCATAAAGCCTC	0.537000													4	68					0.00909568	0.00947522	1	1	0
FAT4	79633	broad.mit.edu	37	4	126242732	126242732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126242732G>T	ENST00000394329.3	+	1	5179	c.5166G>T	c.(5164-5166)caG>caT	p.Q1722H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1722	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAACACAGAGAGCAGAGG	0.358000													5	60					0.00116845	0.00124821	1	1	0
DDC	1644	broad.mit.edu	37	7	50530956	50530956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530956G>A	ENST00000444124.2	-	14	1616	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	DDC_ENST00000426377.1_Silent_p.A394A|DDC_ENST00000431062.1_Silent_p.A379A|DDC_ENST00000357936.5_Silent_p.A472A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	472					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGCACGTCGGCCGCCAGCT	0.597000													4	16					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269674	173269674	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:173269674C>T	ENST00000506823.1	+	5	1044	c.386_splice	c.e5-1	p.N129_splice	GALNTL6_ENST00000508122.1_Splice_Site_p.N112_splice|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	129						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCATCTCCAGCTGTAAGCATA	0.383000													5	118					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45811737	45811737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45811737C>T	ENST00000221476.3	-	6	881	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	236	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGAGATGACCCGGAGGTGATC	0.587000													22	35					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42821137	42821137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42821137G>A	ENST00000398600.2	+	16	2372	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	MX1_ENST00000455164.2_Silent_p.V449V|MX1_ENST00000288383.6_Silent_p.V426V|MX1_ENST00000398598.3_Silent_p.V449V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	449					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGGCTTTGTGAATTACAGGA	0.423000													8	92					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982200	7982200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7982200C>A	ENST00000328600.2	-	2	1120	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT.						ATP binding	p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCTCGCCCTCTCCTCCTC	0.512000													16	103					1.3612e-06	1.57881e-06	1	1	0
FAM160B1	57700	broad.mit.edu	37	10	116596000	116596000	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116596000C>A	ENST00000369248.4	+	5	852	c.517C>A	c.(517-519)Cta>Ata	p.L173I	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L173I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	173										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAACTTTTTCCTAGAGGTATG	0.343000													21	215					4.26978e-12	5.35206e-12	1	1	0
PUS7L	83448	broad.mit.edu	37	12	44148951	44148951	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44148951T>C	ENST00000416848.2	-	2	586	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PUS7L_ENST00000344862.5_Missense_Mutation_p.D33G|PUS7L_ENST00000551923.1_Missense_Mutation_p.D33G|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.D33G	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	33					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AACAATAAAGTCACTTGGTGA	0.323000													26	35					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161906	239161906	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239161906G>T	ENST00000254657.3	-	19	3037	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	920	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCTGGGGCAGGTTTGGGGTC	0.627000													8	59					2.17888e-05	2.45068e-05	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176011502	176011502	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011502C>A	ENST00000510636.1	+	19	2494	c.2220C>A	c.(2218-2220)aaC>aaA	p.N740K	CDHR2_ENST00000506348.1_Missense_Mutation_p.N740K|CDHR2_ENST00000261944.5_Missense_Mutation_p.N740K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	740	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTGCCAACTACTTCATGA	0.642000													36	68					5.59293e-11	6.93756e-11	1	1	0
DDAH1	23576	broad.mit.edu	37	1	85816136	85816136	+	Missense_Mutation	SNP	C	C	T	rs147415500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85816136C>T	ENST00000284031.8	-	4	653	c.559G>A	c.(559-561)Gca>Aca	p.A187T	DDAH1_ENST00000535924.2_Missense_Mutation_p.A84T|DDAH1_ENST00000426972.3_Missense_Mutation_p.A94T|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.A87T|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.A187T	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	187					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GACCCAATTGCGATCAGGTTA	0.483000													53	156					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211159037	211159037	+	Missense_Mutation	SNP	C	C	T	rs139030210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211159037C>T	ENST00000352451.3	-	4	557	c.410G>A	c.(409-411)cGt>cAt	p.R137H	MYL1_ENST00000341685.4_Missense_Mutation_p.R93H|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	137	EF-hand 2.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCAAAGACACGCAGACCCTC	0.463000													24	36					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169287	8169287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8169287C>T	ENST00000314666.6	+	21	2786	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PFAS_ENST00000545834.1_Missense_Mutation_p.P461S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	885					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGGACCTTCCTGAGAACTT	0.642000													10	24					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726700	46726700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46726700C>T	ENST00000311764.2	+	5	1680	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTCCCTGCGGAACCATAT	0.667000													33	45					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150040755	150040755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150040755C>T	ENST00000369130.3	+	2	708	c.162C>T	c.(160-162)cgC>cgT	p.R54R	VPS45_ENST00000369128.5_Silent_p.R18R|VPS45_ENST00000535106.1_Silent_p.R54R	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	54					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGAACGCATTGATTCTC	0.398000													15	97					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166836766	166836766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166836766G>A	ENST00000510118.1	-	19	2136	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T485M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T485M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T574M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T582M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	574	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAATTGGCCGTGTAGCAGGG	0.642000													13	28					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57937774	57937774	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57937774G>A	ENST00000564448.1	-	27	2788	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	CNGB1_ENST00000251102.8_Missense_Mutation_p.R916C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	916					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R916G(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTTGACGCGGTTCTGCACG	0.602000													5	31					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169500	100169500	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100169500T>A	ENST00000328526.5	-	3	1781	c.1216A>T	c.(1216-1218)Att>Ttt	p.I406F	XKRX_ENST00000372956.2_Missense_Mutation_p.I393F|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	393						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCAATGGAAATCAGATAAGCA	0.408000													9	144					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711799	135711799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711799G>A	ENST00000264157.5	+	9	1804	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	CCNT2_ENST00000537343.1_Missense_Mutation_p.D417N|CCNT2_ENST00000295238.6_Missense_Mutation_p.D592N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	592					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACACAGTGCCGACGGAATACC	0.557000													21	29					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58270808	58270808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58270808G>A	ENST00000340635.6	-	15	2288	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	PDE4D_ENST00000317118.8_Missense_Mutation_p.R414C|PDE4D_ENST00000405755.2_Missense_Mutation_p.R583C|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641C|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575C|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644C|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644C|PDE4D_ENST00000360047.5_Missense_Mutation_p.R569C|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	705					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TACCATTCACGATTGTCCTCC	0.537000													4	49					0	0	1	0	0
ASPDH	554235	broad.mit.edu	37	19	51015686	51015686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51015686G>A	ENST00000389208.4	-	5	645	c.584C>T	c.(583-585)gCg>gTg	p.A195V	ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A90V	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	195					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						GGCAGCCGCCGCCATGGTGTT	0.662000													8	11					0	0	1	0	0
TMEM41A	90407	broad.mit.edu	37	3	185212550	185212550	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185212550C>A	ENST00000421852.1	-	4	531		c.e4-1		TMEM41A_ENST00000475480.1_Splice_Site|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A							integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTCCTCCACCTGTAGCCAAA	0.438000													5	95					5.9392e-07	6.91975e-07	1	1	0
LYPLA1	10434	broad.mit.edu	37	8	54963656	54963656	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:54963656C>T	ENST00000316963.3	-	8	748	c.555G>A	c.(553-555)acG>acA	p.T185T	LYPLA1_ENST00000343231.6_Silent_p.T169T|LYPLA1_ENST00000522007.1_3'UTR	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	185					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTTTTTCCACCGTAAGAGAAC	0.443000													34	55					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592000													41	76					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378000													14	30					2.61681e-11	3.25769e-11	1	1	0
PHF20	51230	broad.mit.edu	37	20	34451299	34451299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34451299G>T	ENST00000374012.3	+	6	914	c.785G>T	c.(784-786)aGa>aTa	p.R262I	PHF20_ENST00000439301.1_Missense_Mutation_p.Q240H|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGAGGCAGACCCCCTTCC	0.448000													45	57					6.31075e-24	8.36301e-24	1	1	0
IRS1	3667	broad.mit.edu	37	2	227660889	227660889	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227660889C>T	ENST00000305123.4	-	1	3586	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	856					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGGCCGGGCCAGGCGGCTA	0.662000													12	37					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480755	19480755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19480755C>T	ENST00000270570.4	+	17	1688	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	SLC47A1_ENST00000575023.1_Silent_p.G232G|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.G534G|SLC47A1_ENST00000571335.1_Silent_p.G280G|SLC47A1_ENST00000395585.1_Silent_p.G534G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	534						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CACAGGACGGCGCTAAATTGT	0.507000													57	98					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121214505	121214505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214505C>A	ENST00000392870.2	+	16	2028	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	GRK5_ENST00000369108.3_Missense_Mutation_p.P462T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	567					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAAGAGTTCGCCCAGCTCCAA	0.567000													4	43					1.23904e-05	1.39987e-05	1	1	0
HERC2P3	0	broad.mit.edu	37	15	20588520	20588520	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20588520C>T	ENST00000428453.1	-	0	4230																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGCAACAGCTCAAGCTTTG	0.498000													15	14					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64661006	64661006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64661006G>T	ENST00000543942.2	-	13	2452	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	C12orf56_ENST00000333722.5_Missense_Mutation_p.P449H|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	612										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAATGGTAGGTTGAGTGAT	0.333000													8	10					1.33987e-11	1.67317e-11	1	1	0
SYT6	148281	broad.mit.edu	37	1	114680571	114680571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680571C>T	ENST00000393296.1	-	3	694	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SYT6_ENST00000369547.1_Missense_Mutation_p.R121H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	206					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGATGCGGCCAATGCT	0.572000													18	26					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428406	3428406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3428406C>A	ENST00000324266.5	+	5	1584	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.Y463*|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	463							binding										ATTACGAGTACTACCCGCACG	0.443000													16	198					1.01871e-10	1.25892e-10	1	1	0
CYP4X1	260293	broad.mit.edu	37	1	47501745	47501745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501745G>A	ENST00000371901.3	+	6	927	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R225H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	226						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATATTTCACCGCTTGTACAGT	0.393000													68	81					0	0	1	0	0
PCDHGA1	0	broad.mit.edu	37	5	140710700	140710700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140710700C>T	ENST00000517417.1	+	1	449	c.449C>T	c.(448-450)aCc>aTc	p.T150I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T150I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCAGGTACCAGAGTCTCA	0.418000													71	111					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502238	91502238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91502238C>A	ENST00000266718.4	-	2	973	c.519G>T	c.(517-519)gaG>gaT	p.E173D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	173					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AAACAGCATCCTCTTTCAGCC	0.453000													12	94					0.000978159	0.00105116	1	1	0
PSMC2	5701	broad.mit.edu	37	7	103008238	103008238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103008238C>T	ENST00000435765.1	+	12	1537	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	PSMC2_ENST00000292644.3_Silent_p.L376L|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.L239L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAGCACGACTGTGTCCAAA	0.373000													7	126					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148997783	148997783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148997783C>A	ENST00000333677.6	+	6	866	c.703C>A	c.(703-705)Ctg>Atg	p.L235M		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	235					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGGGAGCGGCTGGCCCGCAT	0.622000													35	49					4.32679e-17	5.60236e-17	1	1	0
FAM126A	84668	broad.mit.edu	37	7	22985427	22985427	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22985427T>C	ENST00000432176.2	-	11	1579	c.1347A>G	c.(1345-1347)gtA>gtG	p.V449V	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	449						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATTTACTAAATACAGTCGCTG	0.468000													3	84					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27510034	27510034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27510034C>T	ENST00000356183.4	-	13	2097	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	GTF3C1_ENST00000561623.1_Silent_p.P694P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCCATGGACGGGTGCACCA	0.582000													36	57					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132404200	132404200	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132404200T>C	ENST00000277458.4	-	1	244	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	ASB6_ENST00000277459.4_Missense_Mutation_p.I27V|ASB6_ENST00000450050.2_Silent_p.G8G	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	27					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGTCCTGGATCCCCAGGGAG	0.687000													11	16					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:24860369C>T	ENST00000424834.2	+	8	2792	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000343003.6_Silent_p.N92N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000382095.4_Silent_p.N148N|SPATA13_ENST00000399949.2_Silent_p.N70N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587000													42	61					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111651668	111651668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111651668G>A	ENST00000374647.5	-	29	3473	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	IKBKAP_ENST00000537196.1_Silent_p.L707L|IKBKAP_ENST00000467959.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCTCAACCAGCTTTCCTGTA	0.413000													7	98					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603190	52603190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52603190C>A	ENST00000521776.2	+	2	983	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	84					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAGAAAAGCTGGGCCTTGC	0.448000													7	121					1.26484e-09	1.54084e-09	1	1	0
ITLN1	55600	broad.mit.edu	37	1	160854649	160854649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160854649G>T	ENST00000326245.3	-	2	134	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	7					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAACAGCAGGAAGCTGAGT	0.507000													13	216					9.05144e-12	1.1316e-11	1	1	0
MAPK8	5599	broad.mit.edu	37	10	49643001	49643001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49643001G>A	ENST00000374189.1	+	12	1394	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MAPK8_ENST00000374182.3_3'UTR|MAPK8_ENST00000360332.3_Missense_Mutation_p.D405N|MAPK8_ENST00000459755.1_3'UTR			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	405					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AATGTCAACAGATCCGACTTT	0.517000													67	130					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243998	19243998	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19243998C>T	ENST00000450333.2	-	3	166	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMEM161A_ENST00000587583.2_Silent_p.P43P|TMEM161A_ENST00000162044.9_Silent_p.P43P|TMEM161A_ENST00000592369.1_5'UTR	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	43					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCTCCTCAGACGGGTGCTTGT	0.647000													10	28					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33511157	33511157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33511157G>A	ENST00000360596.2	+	14	1791	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ACSS2_ENST00000336325.4_Missense_Mutation_p.R477H|ACSS2_ENST00000253382.5_Missense_Mutation_p.R540H|ACSS2_ENST00000476922.1_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	527					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGATCATGCGCACAGTCTAT	0.483000													9	20					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887550	7887550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887550C>A	ENST00000377532.3	+	17	2785	c.2561C>A	c.(2560-2562)aCt>aAt	p.T854N	PER3_ENST00000361923.2_Missense_Mutation_p.T846N			P56645	PER3_HUMAN	period circadian clock 3	846	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGATACTTTTATGACC	0.567000													14	186					0.000958276	0.00103117	1	1	0
A1CF	29974	broad.mit.edu	37	10	52601697	52601697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52601697C>T	ENST00000395489.2	-	7	665	c.269G>A	c.(268-270)gGa>gAa	p.G90E	A1CF_ENST00000373993.1_Missense_Mutation_p.G97E|A1CF_ENST00000395495.1_Missense_Mutation_p.G97E|A1CF_ENST00000282641.2_Missense_Mutation_p.G97E|A1CF_ENST00000373997.3_Missense_Mutation_p.G97E|A1CF_ENST00000374001.1_Missense_Mutation_p.G97E|A1CF_ENST00000373995.3_Missense_Mutation_p.G105E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	97	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGCATATCCTCTATTGTT	0.294000													17	38					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68728780	68728780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68728780C>T	ENST00000325631.5	+	5	1437	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.R339*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	455					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGATGATGAGCGAGAACGCTA	0.413000													38	57					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2836236	2836236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2836236G>A	ENST00000381154.1	-	5	547	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	158						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATCCCCGCGGGATGCACAA	0.552000													3	15					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11150164	11150164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11150164G>A	ENST00000358026.2	+	30	4485	c.4201G>A	c.(4201-4203)Gcc>Acc	p.A1401T	SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000344626.4_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000429416.3_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000450717.3_Intron	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ccatgacacaGCCAGCAGTGT	0.493000			"""F, N, Mis"""		NSCLC								6	9					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1504419	1504419	+	Silent	SNP	G	G	A	rs140154323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1504419G>A	ENST00000382745.4	-	13	1751	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	CLCN7_ENST00000448525.1_Silent_p.G358G|CLCN7_ENST00000262318.8_Silent_p.G358G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	382						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TACCCACCACGCCCATGGCGA	0.627000													10	25					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147065	145147065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147065C>A	ENST00000558170.2	-	10	4782	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1176*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1200*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1200	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATTTGGTTTCCATTTTCCCA	0.388000													10	234					0.0692343	0.0706532	1	1	0
TTF1	7270	broad.mit.edu	37	9	135277278	135277278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135277278G>A	ENST00000334270.2	-	2	970	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	311					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACAGCAGGCCGGGATTCCTGC	0.453000													62	92					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422182	47422182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47422182C>T	ENST00000361866.3	+	32	2231	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	706	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACGGGGGAGGCCCTGCAGTAC	0.682000													4	0					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38539144	38539144	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38539144C>T	ENST00000332509.3	-	4	760	c.577G>A	c.(577-579)Gct>Act	p.A193T	PLA2G6_ENST00000335539.3_Missense_Mutation_p.A193T|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A193T	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	193					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCCTGGACAGCATAATGGAAG	0.597000													117	192					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41231859	41231859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231859C>A	ENST00000216218.3	-	6	896	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	139							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGATGGCATCTGTGAATAAG	0.383000													4	59					0.00024832	0.0002712	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121587087	121587087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121587087G>A	ENST00000361976.2	+	20	3360	c.3194G>A	c.(3193-3195)aGc>aAc	p.S1065N	INPP5F_ENST00000369080.3_Missense_Mutation_p.S455N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1065							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAGTAGCAGCAGAGCAGTC	0.483000													41	74					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100015051	100015051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100015051G>T	ENST00000394144.4	+	8	815	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.E270*|TBC1D23_ENST00000475134.1_Nonsense_Mutation_p.E133*|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	270						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCTGAATATAGAAGATATAGA	0.323000													26	57					2.70662e-09	3.28559e-09	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24842970	24842970	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842970C>T	ENST00000413692.2	+	6	1962	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	NFATC4_ENST00000422617.3_Silent_p.I531I|NFATC4_ENST00000553879.1_Silent_p.I473I|NFATC4_ENST00000554473.1_Silent_p.I78I|NFATC4_ENST00000554591.1_Silent_p.I606I|NFATC4_ENST00000554966.1_Silent_p.I556I|NFATC4_ENST00000555590.1_Silent_p.I556I|NFATC4_ENST00000424781.2_Silent_p.I556I|NFATC4_ENST00000555167.1_Silent_p.I78I|NFATC4_ENST00000553469.1_Silent_p.I575I|NFATC4_ENST00000553708.1_Silent_p.I543I|NFATC4_ENST00000554050.1_Silent_p.I543I|NFATC4_ENST00000556759.1_Silent_p.I78I|NFATC4_ENST00000539237.2_Silent_p.I575I|NFATC4_ENST00000554661.1_Silent_p.I473I|NFATC4_ENST00000250373.4_Silent_p.I543I|NFATC4_ENST00000554344.1_Silent_p.I473I|NFATC4_ENST00000555453.1_Silent_p.I531I|NFATC4_ENST00000556169.1_Silent_p.I531I|NFATC4_ENST00000556279.1_Silent_p.I575I|NFATC4_ENST00000557451.1_Silent_p.I473I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	543	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGACGGACATCGGGCGCAAAA	0.597000													33	47					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143597	56143597	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56143597C>T	ENST00000302270.1	+	1	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CCTTCCGCCTCTCCTATTGCC	0.453000													56	156					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99521449G>A	ENST00000375231.1	-	6	2313	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R555*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413000													51	88					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101010027	101010027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101010027A>G	ENST00000264249.3	-	7	1136	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	CHST10_ENST00000542617.1_Missense_Mutation_p.W299R|CHST10_ENST00000409701.1_Missense_Mutation_p.W251R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	251					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGTCTAGCCATCTGTGGTTC	0.522000													15	165					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909491	23909491	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23909491T>C	ENST00000382298.3	-	10	9112	c.8524A>G	c.(8524-8526)Aac>Gac	p.N2842D	SACS_ENST00000382292.3_Missense_Mutation_p.N2842D|SACS_ENST00000402364.1_Missense_Mutation_p.N2092D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATCTTGGTTCTTGTGAGCT	0.393000													6	82					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555495	148555495	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148555495T>C	ENST00000296582.3	+	10	1801	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	409						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTCCCCAGACTACACCTACCA	0.423000													14	73					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003072	176003072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176003072C>A	ENST00000510636.1	+	12	1354	c.1080C>A	c.(1078-1080)gcC>gcA	p.A360A	CDHR2_ENST00000506348.1_Silent_p.A360A|CDHR2_ENST00000261944.5_Silent_p.A360A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	360					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCCAGCCTGCACCTTCA	0.577000													5	29					0.184627	0.186383	1	1	0
MRPL2	51069	broad.mit.edu	37	6	43023921	43023921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43023921C>T	ENST00000388752.3	-	4	842	c.418G>A	c.(418-420)Gct>Act	p.A140T	MRPL2_ENST00000230413.5_Missense_Mutation_p.A140T|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	140					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GCAACCAGAGCTATGTCTGCT	0.522000													21	41					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254913	10254913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254913G>T	ENST00000280326.4	+	3	714	c.294G>T	c.(292-294)caG>caT	p.Q98H	CCT5_ENST00000515676.1_Missense_Mutation_p.Q60H|CCT5_ENST00000503026.1_Missense_Mutation_p.Q77H|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	98					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCAAGTCTCAGGATGATGAAA	0.428000													4	93					2.56e-06	2.9446e-06	1	1	0
ADHFE1	137872	broad.mit.edu	37	8	67355048	67355048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67355048C>A	ENST00000396623.3	+	3	144	c.113C>A	c.(112-114)cCt>cAt	p.P38H	ADHFE1_ENST00000379385.4_Missense_Mutation_p.P38H|ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	38					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGACTTTCACCTTCTGGGAAA	0.303000													19	48					1.22574e-08	1.47244e-08	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158747053	158747053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747053C>T	ENST00000339258.1	-	1	372	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CGACAAATGGCCAGGTATCTA	0.502000													46	25					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874935	39874935	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39874935C>T	ENST00000260356.5	+	3	774	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	203	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAAGGGGGGCGTCAATGACA	0.557000													4	13					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592935	2592935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592935G>A	ENST00000358864.1	+	13	1707	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	564						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCACCCCTGCACCCTGCAG	0.493000													9	81					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695222	84695222	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695222T>C	ENST00000564996.1	+	5	1475	c.1334T>C	c.(1333-1335)tTc>tCc	p.F445S	KLHL36_ENST00000258157.5_Missense_Mutation_p.F382S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	445										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACAAAGACTTCGTGTACATC	0.637000													7	71					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420599	23420599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23420599A>G	ENST00000302291.4	-	4	957	c.156T>C	c.(154-156)atT>atC	p.I52I	LUZP1_ENST00000314174.5_Silent_p.I52I|LUZP1_ENST00000374623.3_Silent_p.I52I|LUZP1_ENST00000418342.1_Silent_p.I52I			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	52						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTGCCTGAATCACCTTGT	0.517000													11	111					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159164	8159164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8159164C>T	ENST00000314666.6	+	6	749	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	206					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACACCAAGCGCTTCCAGGA	0.537000													20	54					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67154083	67154083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67154083C>A	ENST00000219139.3	+	2	321	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L45I	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	45										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTCCAGGTTCTCTACAGTGA	0.463000													45	49					1.35964e-18	1.77519e-18	1	1	0
LNX1	84708	broad.mit.edu	37	4	54362284	54362284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54362284C>T	ENST00000306888.2	-	5	1219	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	LNX1_ENST00000263925.7_Missense_Mutation_p.R419Q|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	419	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGACCATGTCGATATGCCAC	0.507000													36	54					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Silent	SNP	C	C	T	rs144073167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826811C>T	ENST00000283296.7	-	17	3117	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	GPR116_ENST00000265417.7_Silent_p.K943K|GPR116_ENST00000456426.2_Silent_p.K801K|GPR116_ENST00000362015.4_Silent_p.K943K|GPR116_ENST00000545669.1_Silent_p.K372K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473000													36	56					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884580	36884580	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884580G>T	ENST00000392161.3	-	5	904	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	ZFP82_ENST00000392171.1_Missense_Mutation_p.S221Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTCACCAGAATGAAGTCT	0.413000													4	102					1	1	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207175566	207175566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207175566C>T	ENST00000374423.3	+	5	6700	c.6314C>T	c.(6313-6315)gCg>gTg	p.A2105V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2105							nucleic acid binding|zinc ion binding	p.A2105V(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGCTTCAGCGCCTTTAATG	0.443000													25	45					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57134065	57134065	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:57134065G>T	ENST00000439986.4	-	5	496	c.459C>A	c.(457-459)acC>acA	p.T153T	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	153	EGF-like; calcium-binding (Potential).				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGCTGCCCAAGGTATTGATGC	0.488000													8	98					0.000157383	0.00017284	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12856088	12856088	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12856088C>A	ENST00000332296.7	+	4	1471	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	PRAMEF1_ENST00000400814.3_Silent_p.P211P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	456										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCCCCTGCCCTTCCT	0.557000													15	183					1.66031e-10	2.04717e-10	1	1	0
PHB2	11331	broad.mit.edu	37	12	7077078	7077078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7077078G>T	ENST00000535923.1	-	5	865	c.584C>A	c.(583-585)gCt>gAt	p.A195D	PHB2_ENST00000440277.1_Missense_Mutation_p.A195D|PHB2_ENST00000399433.2_Missense_Mutation_p.A195D|PHB2_ENST00000542912.1_Missense_Mutation_p.A195D|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	195					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TTCTACAGCAGCTGTGTACTC	0.582000													16	200					1.99824e-07	2.35189e-07	1	1	0
RBKS	64080	broad.mit.edu	37	2	28050435	28050435	+	Splice_Site	SNP	G	G	A	rs143709910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28050435G>A	ENST00000302188.3	-	7	1546	c.795_splice	c.e7+1	p.T265_splice	RBKS_ENST00000444339.2_Splice_Site_p.T265_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AAAACTTACCGTGGTATCCAC	0.383000													27	43					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90001396	90001396	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90001396G>T	ENST00000405460.2	+	37	8662	c.8566_splice	c.e37+1	p.G2856_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2856					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATCTCTAGGTTTGTGTTA	0.358000													7	42					1.26484e-09	1.54084e-09	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113639	59113639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113639C>T	ENST00000395153.3	+	4	2334	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	DACT1_ENST00000556859.1_Silent_p.F485F|DACT1_ENST00000395151.3_Silent_p.F485F|DACT1_ENST00000335867.4_Silent_p.F766F|DACT1_ENST00000541264.2_Silent_p.F485F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	766					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGGGCGAGTTCGTGGGGGAGA	0.582000													32	57					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385182	62385182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385182G>A	ENST00000383710.4	-	30	4310	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	CADPS_ENST00000283269.9_Missense_Mutation_p.R1282C|CADPS_ENST00000357948.3_Missense_Mutation_p.R1242C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1321	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTGAGACGGTTCCGGATC	0.498000													42	71					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569880	52569880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569880G>A	ENST00000389534.4	-	7	1714	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H419Y|ZNF841_ENST00000359973.2_Missense_Mutation_p.H303Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H303Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ATTATATGATGTGCAGTGAGG	0.388000													3	11					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004674	52004674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52004674G>A	ENST00000291707.3	-	1	369	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	105	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCTCAGGGTACAATCCTT	0.498000													58	89					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54012203	54012203	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54012203T>C	ENST00000322659.8	-	18	2228	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	PHF8_ENST00000357988.5_Intron|PHF8_ENST00000338154.6_Intron|PHF8_ENST00000338946.6_Intron	NM_001184898.1	NP_001171827.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	739					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGAGCGGGGGTTGCTGTCTGA	0.512000													9	19					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75558185	75558185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75558185C>T	ENST00000604729.1	+	20	4447	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1379W|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1384W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1346W|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1379W					zinc finger, SWIM-type containing 8									p.R1379W(1)|p.R1384W(1)|p.R764W(1)									TGAGATCCAGCGGGCCCTGGT	0.597000													12	20					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17770235	17770235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17770235G>A	ENST00000581396.1	-	8	861	c.765C>T	c.(763-765)ttC>ttT	p.F255F	TOM1L2_ENST00000542206.1_Silent_p.F157F|TOM1L2_ENST00000318094.10_Silent_p.F260F|TOM1L2_ENST00000535933.1_Silent_p.F252F|TOM1L2_ENST00000540946.1_Silent_p.F207F|TOM1L2_ENST00000379504.3_Silent_p.F305F|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000395739.4_Silent_p.F260F|TOM1L2_ENST00000478943.1_Silent_p.F38F	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	305	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTATCGTTCGAACCTAACAG	0.517000													11	52					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425584	74425584	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425584G>A	ENST00000361742.3	+	4	1258	c.489G>A	c.(487-489)gcG>gcA	p.A163A	ISLR2_ENST00000453268.2_Silent_p.A163A|ISLR2_ENST00000435464.1_Silent_p.A163A|ISLR2_ENST00000419208.1_Silent_p.A163A|ISLR2_ENST00000565159.1_Silent_p.A163A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Silent_p.A163A|ISLR2_ENST00000565540.1_Silent_p.A163A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTACGCTGGCGCCTGGCACCT	0.657000													8	76					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	272684	272684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:272684C>A	ENST00000538872.1	+	9	2726	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L567M|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L870M			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	870	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACCGCCGCCTGGTGTGCTG	0.657000													29	36					4.43304e-23	5.86336e-23	1	1	0
CYLD	1540	broad.mit.edu	37	16	50828334	50828334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50828334G>A	ENST00000540145.1	+	18	3096	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.R891Q|CYLD_ENST00000566206.1_Missense_Mutation_p.R891Q|CYLD_ENST00000568704.2_Missense_Mutation_p.R709Q|CYLD_ENST00000398568.2_Missense_Mutation_p.R891Q|CYLD_ENST00000311559.9_Missense_Mutation_p.R894Q|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.R891Q|CYLD_ENST00000427738.3_Missense_Mutation_p.R894Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	894					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATGGCCGATCGGGATGGTACT	0.463000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				44	75					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105264032	105264032	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105264032G>A	ENST00000481337.1	+	10	1120		c.e10-1		ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000306107.5_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron			Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACATTTCAGAGTTAGCACT	0.343000													16	15					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627867	12627867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12627867C>T	ENST00000380682.1	+	3	692	c.186C>T	c.(184-186)gaC>gaT	p.D62D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	62	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCCTTTTGACGACCCTCGGT	0.512000													30	46					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28995229	28995229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28995229C>T	ENST00000311008.11	+	11	1820	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	SPNS1_ENST00000565975.1_Silent_p.T526T|SPNS1_ENST00000352260.7_Silent_p.T407T|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.T429T|SPNS1_ENST00000323081.8_Silent_p.T408T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	481					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTGGGCACCGCCATCTTCA	0.652000													27	38					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196042	131196042	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131196042C>T	ENST00000541194.1	-	2	514	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PODXL_ENST00000322985.9_Missense_Mutation_p.G84D|PODXL_ENST00000537928.1_Missense_Mutation_p.G84D|PODXL_ENST00000378555.3_Missense_Mutation_p.G84D|PODXL_ENST00000465001.1_5'UTR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	84	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGGATACACCAAGGGTGGT	0.582000													35	72					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238479	100238479	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100238479G>A	ENST00000462107.1	-	4	590	c.303C>T	c.(301-303)taC>taT	p.Y101Y	TFR2_ENST00000223051.3_Silent_p.Y101Y|TFR2_ENST00000431692.1_Silent_p.Y101Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	101					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGGCGACGTAGCCCAGTA	0.597000													5	61					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725397	66725397	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66725397A>G	ENST00000247815.4	+	12	3193	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1045					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTGTGAATGATGATGAAAGT	0.373000													9	87					0	0	1	0	0
MEA1	4201	broad.mit.edu	37	6	42980865	42980865	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42980865C>A	ENST00000244711.3	-	2	445	c.291G>T	c.(289-291)caG>caT	p.Q97H		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	97					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATTCGATCCTGGATGTCAG	0.577000													41	56					2.95478e-19	3.86493e-19	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160318821	160318821	+	Missense_Mutation	SNP	G	G	A	rs12045198	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160318821G>A	ENST00000368063.1	+	4	443	c.163G>A	c.(163-165)Gta>Ata	p.V55I	NCSTN_ENST00000535857.1_Missense_Mutation_p.V75I|NCSTN_ENST00000294785.5_Missense_Mutation_p.V75I|NCSTN_ENST00000392212.4_Missense_Mutation_p.V55I			Q92542	NICA_HUMAN	nicastrin	75					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTATCCACGTAGTAGAGAA	0.463000													14	44					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445301	10445301	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10445301A>C	ENST00000326756.3	-	3	3090	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACTTATAGAAAGACTTCTGG	0.398000													20	52					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185330425	185330425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185330425G>A	ENST00000296257.5	+	9	1088	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	SENP2_ENST00000545472.1_Missense_Mutation_p.C273Y|SENP2_ENST00000427465.2_Missense_Mutation_p.C107Y	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	283					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGACCTCTATGTTCATTGAGA	0.308000													12	31					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99121056	99121056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:99121056G>T	ENST00000357310.1	+	25	4010	c.3433G>T	c.(3433-3435)Gat>Tat	p.D1145Y	APAF1_ENST00000339433.3_Missense_Mutation_p.D1103Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D1103Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D1134Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.D1177Y|APAF1_ENST00000551964.1_Missense_Mutation_p.D1188Y|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1188					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTTCTCCAGATGGCAAAAT	0.428000													8	87					0.000157383	0.00017284	1	1	0
BTBD2	55643	broad.mit.edu	37	19	1987624	1987624	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1987624G>T	ENST00000255608.4	-	6	1072	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	352						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTGGGGTTGACGGTGA	0.667000													6	12					5.9392e-07	6.91975e-07	1	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914738	94914738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914738G>T	ENST00000334708.3	-	2	438	c.374C>A	c.(373-375)aCc>aAc	p.T125N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAGGGCAAGGGTGTGGAGGAG	0.557000													59	116					9.10829e-22	1.20035e-21	1	1	0
USP44	84101	broad.mit.edu	37	12	95918498	95918498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95918498C>T	ENST00000258499.3	-	4	1979	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.C564Y|USP44_ENST00000393091.2_Missense_Mutation_p.C564Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	564					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGTAGGTGGCATATCATAAG	0.393000													23	52					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78142332	78142332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78142332G>T	ENST00000566780.1	+	2	486	c.120G>T	c.(118-120)gaG>gaT	p.E40D	WWOX_ENST00000355860.3_Missense_Mutation_p.E40D|WWOX_ENST00000402655.2_Missense_Mutation_p.E40D|WWOX_ENST00000539474.2_Missense_Mutation_p.E40D|WWOX_ENST00000408984.3_Missense_Mutation_p.E40D|WWOX_ENST00000406884.2_Missense_Mutation_p.E40D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	40	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACACCGAGGAGAAGACTCAGT	0.338000													4	47					0.184627	0.186383	1	1	0
IL11RA	3590	broad.mit.edu	37	9	34658656	34658656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34658656G>A	ENST00000555003.1	+	8	2142	c.786G>A	c.(784-786)ccG>ccA	p.P262P	IL11RA_ENST00000378817.4_Silent_p.P262P|IL11RA_ENST00000318041.9_Silent_p.P262P|IL11RA_ENST00000602473.1_Silent_p.P262P|IL11RA_ENST00000441545.2_Silent_p.P262P			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	262	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTACCGTCCGGCGCAGCATC	0.627000													17	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237942006	237942006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237942006G>A	ENST00000366574.2	+	88	12133	c.11816G>A	c.(11815-11817)aGg>aAg	p.R3939K	RYR2_ENST00000542537.1_Missense_Mutation_p.R3923K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3945K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3939					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACACAGCAGGCTGTGGGAT	0.448000													29	40					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106092260	106092260	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106092260G>A	ENST00000390543.2	-	0	143																											TGTGCACGCCGCTGGTCAGGG	0.652000													12	17					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202727577	202727577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202727577C>T	ENST00000367265.3	-	9	2303	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R416H|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	380					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCAAAAGTACGGAGGGTATA	0.383000													23	42					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186358749	186358749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186358749A>G	ENST00000367470.3	+	6	703	c.467A>G	c.(466-468)gAt>gGt	p.D156G	C1orf27_ENST00000287859.6_Missense_Mutation_p.D156G|C1orf27_ENST00000432021.3_Missense_Mutation_p.D156G|C1orf27_ENST00000419367.3_Missense_Mutation_p.D124G	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	156						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GATATCCATGATCCAAAGGTA	0.254000													3	43					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592532	83592532	+	Nonsense_Mutation	SNP	G	G	A	rs144701441		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592532G>A	ENST00000265362.3	-	16	2163	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.R617*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	617	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCTTTTCGCTCTTCATTT	0.388000													47	133					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134239698	134239698	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239698G>T	ENST00000535456.2	+	11	1215		c.e11-1		GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGTCTTGCAGACTATGATGC	0.547000													66	58					5.61366e-43	7.57762e-43	1	1	0
PCBD1	5092	broad.mit.edu	37	10	72644921	72644921	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72644921G>A	ENST00000299299.3	-	3	454	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	68					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(1)	4						TGTTGTACACGTTAAACCATT	0.488000													24	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683337	100683337	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683337G>A	ENST00000306151.4	+	3	8704	c.8640G>A	c.(8638-8640)ccG>ccA	p.P2880P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2880P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACGCCGGTGGCCAGTT	0.488000													35	372					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643109	105643109	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105643109C>A	ENST00000392568.2	-	4	284		c.e4-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCATACACAGCTGCGTGGGAA	0.677000										HNSCC(42;0.11)			7	45					2.0095e-06	2.31757e-06	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1234013	1234013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1234013G>T	ENST00000354700.5	-	11	999	c.797C>A	c.(796-798)cCc>cAc	p.P266H	ACAP3_ENST00000353662.3_Missense_Mutation_p.P224H	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	266					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCCACTGGGCGCGTCCAC	0.637000													6	32					0.0381472	0.0390147	1	1	0
CBX6	23466	broad.mit.edu	37	22	39262866	39262866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262866G>T	ENST00000407418.3	-	5	710	c.587C>A	c.(586-588)gCg>gAg	p.A196E	CBX6_ENST00000216083.6_Missense_Mutation_p.A178E			O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.662000													6	11					0.248553	0.25002	1	1	0
SLAMF6	114836	broad.mit.edu	37	1	160461053	160461053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160461053C>A	ENST00000368059.3	-	3	577	c.508G>T	c.(508-510)Gga>Tga	p.G170*	SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.G59*|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.G170*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	170	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTGTGTTTCCCAAGGCCTCC	0.483000													11	87					9.31168e-06	1.06029e-05	1	1	0
SAMD7	344658	broad.mit.edu	37	3	169644693	169644693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644693G>A	ENST00000428432.2	+	6	1032	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SAMD7_ENST00000335556.3_Missense_Mutation_p.A215T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	215										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCAGACTCATGCAGTTCCCTA	0.433000													9	58					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44486415	44486415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44486415G>A	ENST00000398165.3	-	5	648	c.389C>T	c.(388-390)gCt>gTt	p.A130V	CBS_ENST00000352178.5_Missense_Mutation_p.A130V|CBS_ENST00000359624.3_Missense_Mutation_p.A130V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.A130V|CBS_ENST00000398168.1_Missense_Mutation_p.A130V|CBS_ENST00000544202.1_Missense_Mutation_p.A42V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	130					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GTCGCGCTCAGCATCCTCAAT	0.647000													16	42					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24658503	24658503	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24658503G>A	ENST00000414583.2	+	0	2920					NR_003714.1																						TGTCCGTCTCGCTCATCATCA	0.572000													11	12					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40133443	40133443	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40133443A>G	ENST00000261435.6	+	13	4966	c.4550A>G	c.(4549-4551)gAa>gGa	p.E1517G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1517						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTATGTTTGAAAAAGATTGT	0.343000													16	28					0	0	1	0	0
DPF1	0	broad.mit.edu	37	19	38703001	38703001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38703001C>T	ENST00000416611.1	-	11	1168	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	DPF1_ENST00000412732.1_Splice_Site_p.D283_splice|DPF1_ENST00000420980.2_Missense_Mutation_p.D331N|DPF1_ENST00000414789.1_Splice_Site_p.D283_splice|DPF1_ENST00000456296.1_Splice_Site_p.D339_splice|DPF1_ENST00000355526.4_Splice_Site_p.D365_splice			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	331					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAGCTGGTCCTGGGGGGTG	0.687000													8	7					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938518	38938518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38938518G>A	ENST00000450244.1	-	14	2419	c.2221C>T	c.(2221-2223)Ccg>Tcg	p.P741S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P741S|SCN11A_ENST00000444237.2_Missense_Mutation_p.P741S|SCN11A_ENST00000302328.3_Missense_Mutation_p.P741S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	741					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGACTGTCGGGCCTGTCGGG	0.488000													4	49					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84065494	84065494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84065494G>A	ENST00000299709.3	-	4	609	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	204					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGACTCACGCACGAGGCCC	0.622000													7	87					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333832	21333832	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21333832C>A	ENST00000359039.4	-	1	1547	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	KLHL9_ENST00000537938.1_Missense_Mutation_p.A275S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	343					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAATGACAGCAATACCATGC	0.408000													38	61					8.69298e-16	1.1177e-15	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90770309	90770309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90770309C>T	ENST00000354366.3	-	5	1207	c.975G>A	c.(973-975)acG>acA	p.T325T	NRDE2_ENST00000357904.3_Silent_p.T94T	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TCCACAGCTGCGTATCCCGAG	0.512000													41	77					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467591	6467591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467591G>A	ENST00000381480.2	-	23	2442	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P733L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	777						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTGCTGGTGGGTGTAGCAGG	0.617000													19	23					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595313	93595313	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93595313G>A	ENST00000329082.7	-	3	826	c.555C>T	c.(553-555)ggC>ggT	p.G185G	RGMA_ENST00000556658.1_Silent_p.G76G|RGMA_ENST00000556087.1_Silent_p.G169G|RGMA_ENST00000543599.1_Silent_p.G169G|RGMA_ENST00000542321.2_Silent_p.G169G|RGMA_ENST00000538818.1_Silent_p.G76G|RGMA_ENST00000557301.1_Silent_p.G193G|RGMA_ENST00000425933.2_Silent_p.G169G|RGMA_ENST00000557420.1_Intron	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	185					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGGCCAGGCGCCCTGCACCT	0.627000													6	9					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224454	26224454	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:26224454A>G	ENST00000056233.3	+	4	1395	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	379					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAAGCCAAGACCTACTGTAT	0.373000													13	161					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69479340	69479340	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69479340G>T	ENST00000374519.2	-	1	314	c.135C>A	c.(133-135)gtC>gtA	p.V45V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCAGCACAAAGACAACTGCAT	0.567000													5	9					0.014758	0.0152625	1	1	0
SLAMF9	89886	broad.mit.edu	37	1	159921585	159921585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159921585G>A	ENST00000368093.3	-	4	852	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L155F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	246						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTACCAAGAGCAAGAAGATG	0.483000													30	41					0	0	1	0	0
TIMP3	7078	broad.mit.edu	37	22	33255339	33255339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33255339G>A	ENST00000266085.6	+	5	912	c.611G>A	c.(610-612)aGc>aAc	p.S204N	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	204			S -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGGATAAAAGCATCATCAAT	0.592000													6	9					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212850	132212850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212850G>A	ENST00000261674.4	+	7	1099	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	SFSWAP_ENST00000541286.1_Missense_Mutation_p.V320M	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	320					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTTGAAGGTAGTGGACCCAGA	0.537000													6	91					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172809432	172809432	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172809432C>A	ENST00000392584.1	+	0	199				HAT1_ENST00000264108.4_Silent_p.I74I|SLC25A12_ENST00000472748.1_Intron			O14929	HAT1_HUMAN	histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCTAAAGATCCTGTTATACT	0.338000													14	27					0.00244969	0.00259885	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29185232	29185232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185232G>T	ENST00000321990.4	+	9	3225	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	949					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTGAGGAAATTAGGT	0.323000													31	42					8.88839e-20	1.16435e-19	1	1	0
MLLT6	4302	broad.mit.edu	37	17	36865496	36865496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36865496G>A	ENST00000325718.7	+	5	516	c.425G>A	c.(424-426)cGc>cAc	p.R142H	MLLT6_ENST00000378137.5_Missense_Mutation_p.R142H	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	142					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCTGTAACCGCCATGGATGT	0.637000			T	MLL	AL								22	141					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34324063	34324063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34324063G>A	ENST00000257209.4	+	20	3545	c.3423G>A	c.(3421-3423)tcG>tcA	p.S1141S	FHOD3_ENST00000592128.1_Silent_p.S120S|FHOD3_ENST00000359247.4_Silent_p.S1124S|FHOD3_ENST00000591635.1_Silent_p.S337S|FHOD3_ENST00000590592.1_Silent_p.S1316S|FHOD3_ENST00000445677.1_Silent_p.S1103S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1124	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAAGCAGTCGCTTCTCCACC	0.488000													44	61					0	0	1	0	0
NCBP2	22916	broad.mit.edu	37	3	196663927	196663927	+	Silent	SNP	G	G	A	rs151326192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196663927G>A	ENST00000447325.1	-	4	565	c.216C>T	c.(214-216)taC>taT	p.Y72Y	NCBP2_ENST00000452404.2_Silent_p.Y124Y|NCBP2_ENST00000422610.1_Silent_p.Y72Y|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Silent_p.Y89Y|NCBP2_ENST00000321256.5_Silent_p.Y142Y			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	142	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCCAGCATCGTAGTCCTGCC	0.453000													35	49					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322563	17322563	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322563C>T	ENST00000595618.1	+	39	6190	c.6038C>T	c.(6037-6039)gCc>gTc	p.A2013V	MYO9B_ENST00000397274.2_Missense_Mutation_p.A2013V|MYO9B_ENST00000594824.1_Missense_Mutation_p.A2013V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2013	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGGAGCGGGCCGGGCGGGGG	0.687000													15	19					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140347585	140347585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347585C>T	ENST00000289269.5	+	1	1766	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		412	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTCCGACTGAATGGCTT	0.577000													7	86					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15227253	15227253	+	Missense_Mutation	SNP	G	G	A	rs147018373	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15227253G>A	ENST00000263383.3	-	11	1406	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R316W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	423						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCGGCTTCCCGCAGCTCCTCC	0.647000													24	49					0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19452725	19452725	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19452725C>A	ENST00000263202.9	-	6	624	c.495_splice	c.e6+1	p.K165_splice	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Splice_Site_p.K165_splice|UFD1L_ENST00000360834.4_Splice_Site_p.K154_splice	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	165					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CTGGGCTCACCTTTTCATTAT	0.463000													6	78					3.59834e-05	4.01776e-05	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10364195	10364195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10364195G>T	ENST00000377093.4	+	21	3105	c.2952G>T	c.(2950-2952)gaG>gaT	p.E984D	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.E984D|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAAGATGAGGTTATAGAGC	0.458000													10	131					7.48243e-07	8.70085e-07	1	1	0
PLS3	5358	broad.mit.edu	37	X	114883751	114883751	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:114883751A>G	ENST00000420625.2	+	16	1897	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C	PLS3_ENST00000543070.1_Missense_Mutation_p.Y182C|PLS3_ENST00000539310.1_Missense_Mutation_p.Y543C|PLS3_ENST00000289290.3_Missense_Mutation_p.Y552C|PLS3_ENST00000355899.3_Missense_Mutation_p.Y588C|PLS3_ENST00000537301.1_Missense_Mutation_p.Y575C	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	588	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TAAAATAGGTATGCAGTGTCA	0.413000													3	70					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517894	123517894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123517894G>A	ENST00000422452.2	-	30	6950	c.6887C>T	c.(6886-6888)tCg>tTg	p.S2296L	TENM1_ENST00000371130.3_Missense_Mutation_p.S2289L|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTAATCTCCGAGCTTGTGTG	0.443000													66	93					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032686	110032686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032686C>T	ENST00000369870.3	+	8	1187	c.1172C>T	c.(1171-1173)aCa>aTa	p.T391I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	391										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAGGGGACATCTGACGAC	0.672000													5	96					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38435283	38435283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38435283C>T	ENST00000322350.5	+	16	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_ENST00000336740.6_Silent_p.G503G|EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000354891.3_Silent_p.G737G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	737	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTTCATTGGCGGAGTCCCCA	0.423000													30	38					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306331	43306331	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43306331C>A	ENST00000361428.2	-	10	5482	c.5405G>T	c.(5404-5406)gGa>gTa	p.G1802V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1802					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGTGGGGTCCAATGCTGGT	0.423000													6	57					0.00307968	0.00325696	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111570340	111570340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111570340G>A	ENST00000261486.5	-	12	1354	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	360						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCAGCTGGCTGTGTTTGTGCT	0.433000													6	112					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45361176	45361176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45361176G>T	ENST00000267814.9	+	7	892	c.712G>T	c.(712-714)Ggt>Tgt	p.G238C	SORD_ENST00000558580.1_Missense_Mutation_p.G217C	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	238					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GAAAGTAGAAGGTCAGCTGGG	0.587000													3	12					1	1	1	1	0
TXNRD2	10587	broad.mit.edu	37	22	19919881	19919881	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19919881T>C	ENST00000400518.1	-	1	195	c.13_splice	c.e1+1	p.Q4_splice	TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000542719.1_Splice_Site_p.Q4_splice|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000334363.9_Intron|TXNRD2_ENST00000491939.1_Intron|TXNRD2_ENST00000535882.1_Intron			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCGCCTCACCTTGGTCCTCCA	0.567000													7	110					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105244881	105244881	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105244881C>A	ENST00000262903.4	-	8	913	c.637G>T	c.(637-639)Gca>Tca	p.A213S	HACE1_ENST00000369125.2_Missense_Mutation_p.A213S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGATCTGTGCTGTATCTCTC	0.333000													14	48					1.49906e-05	1.69169e-05	1	1	0
ILF3	3609	broad.mit.edu	37	19	10792710	10792710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10792710C>T	ENST00000449870.1	+	12	1539	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	ILF3_ENST00000589998.1_Missense_Mutation_p.R408W|ILF3_ENST00000588657.1_Missense_Mutation_p.R408W|ILF3_ENST00000250241.8_Missense_Mutation_p.R408W|ILF3_ENST00000318511.3_Missense_Mutation_p.R408W|ILF3_ENST00000592763.1_Missense_Mutation_p.R408W|ILF3_ENST00000420083.1_Missense_Mutation_p.R408W|ILF3_ENST00000590261.1_Missense_Mutation_p.R408W|ILF3_ENST00000407004.3_Missense_Mutation_p.R408W	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	408	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCCTGATGCGGTTGAACCA	0.582000													6	36					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50595196	50595196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50595196C>A	ENST00000380877.3	-	4	824	c.401G>T	c.(400-402)aGt>aTt	p.S134I	GABPB1_ENST00000560825.1_Missense_Mutation_p.S134I|GABPB1_ENST00000429662.2_Missense_Mutation_p.S134I|GABPB1_ENST00000359031.4_Missense_Mutation_p.S134I|GABPB1_ENST00000543881.1_Missense_Mutation_p.S58I|GABPB1_ENST00000220429.8_Missense_Mutation_p.S134I|GABPB1_ENST00000396464.3_Missense_Mutation_p.S134I	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	134					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACAAAATTTACTTTGCGTGTG	0.333000													7	60					0.00198382	0.00210581	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123886325	123886325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123886325G>A	ENST00000373855.1	+	13	2027	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	CNTRL_ENST00000238341.5_Silent_p.T589T|CNTRL_ENST00000373850.1_Silent_p.T37T|CNTRL_ENST00000373847.1_Silent_p.T37T			Q7Z7A1	CNTRL_HUMAN	centriolin	589					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTAAGGAAACGGAAGAGATTA	0.348000													57	67					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748355	94748355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94748355C>T	ENST00000399300.2	-	3	497	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R95H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	95							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATCCTGGACGCCCTCTTCC	0.408000													64	121					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975486	44975486	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:44975486C>A	ENST00000340446.4	-	1	996	c.705G>T	c.(703-705)agG>agT	p.R235S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	235						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTACTTCTTCCCTAAGCTCAT	0.393000													34	69					5.8336e-16	7.50681e-16	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83251240	83251240	+	Missense_Mutation	SNP	G	G	A	rs142358970		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83251240G>A	ENST00000549919.1	+	3	2322	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMTC2_ENST00000548305.1_Missense_Mutation_p.A179T|TMTC2_ENST00000321196.3_Missense_Mutation_p.A179T			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	179						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGACTGTGCGCAGGATGCAG	0.473000													29	29					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158594104	158594104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158594104C>T	ENST00000263640.3	-	11	1898	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ACVR1_ENST00000410057.2_Missense_Mutation_p.R490H|ACVR1_ENST00000409283.2_Missense_Mutation_p.R490H|ACVR1_ENST00000434821.1_Missense_Mutation_p.R490H	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	490	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTTTTGATACGCAGTGCTGT	0.393000													35	35					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016403	23016403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016403C>A	ENST00000255008.3	+	1	347	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	95					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCGACGAGCTCTTCATGCT	0.657000													8	104					0.00307968	0.00325696	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245181	59245181	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59245181C>A	ENST00000530162.1	+	1	336	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGACCATCTCCTTCAATCATT	0.423000													44	82					2.13384e-23	2.82555e-23	1	1	0
NEB	4703	broad.mit.edu	37	2	152506786	152506786	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506786C>A	ENST00000427231.2	-	54	7537	c.7335G>T	c.(7333-7335)aaG>aaT	p.K2445N	NEB_ENST00000409198.1_Missense_Mutation_p.K2445N|NEB_ENST00000397345.3_Missense_Mutation_p.K2445N|NEB_ENST00000603639.1_Missense_Mutation_p.K2445N|NEB_ENST00000604864.1_Missense_Mutation_p.K2445N|NEB_ENST00000172853.10_Missense_Mutation_p.K2445N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2445					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGATATTTCTTCTCACTGA	0.448000													8	73					1.12685e-05	1.27857e-05	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35943152	35943152	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35943152C>A	ENST00000490799.1	-	10	1640	c.1287_splice	c.e10+1	p.Q429_splice	SLC26A8_ENST00000355574.2_Splice_Site_p.Q429_splice|SLC26A8_ENST00000394602.2_Splice_Site_p.Q324_splice	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	429					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCAACATACCTGTTGTCTTC	0.338000													6	15					0.00198382	0.00210581	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134015524	134015524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015524C>A	ENST00000338492.4	+	11	1349	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	DPYSL4_ENST00000368627.1_Nonsense_Mutation_p.Y295*|DPYSL4_ENST00000368629.1_Nonsense_Mutation_p.Y295*	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	395					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAATTTTTACCCAAGGAAGG	0.532000													5	67					0.0381472	0.0390147	1	1	0
CERKL	0	broad.mit.edu	37	2	182412565	182412565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182412565C>T	ENST00000410087.3	-	9	1243	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Silent_p.Q407Q|CERKL_ENST00000409440.3_Silent_p.Q363Q|CERKL_ENST00000374970.2_Silent_p.Q312Q|CERKL_ENST00000374969.2_Silent_p.Q268Q	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGAGATCCCTGTGCCCTCC	0.393000													75	121					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91524802	91524802	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91524802A>G	ENST00000361188.5	-	5	1810	c.599T>C	c.(598-600)gTg>gCg	p.V200A	PRC1_ENST00000394249.3_Missense_Mutation_p.V200A|PRC1_ENST00000442656.2_Missense_Mutation_p.V159A|PRC1_ENST00000361919.3_Missense_Mutation_p.V200A|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	200	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTCACACACCACATCTCTTTC	0.428000													4	69					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25075813	25075813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25075813G>T	ENST00000381989.3	-	3	397	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	98					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTGATGTCCAGGGGCTTATAA	0.418000													8	115					2.52707e-12	3.17576e-12	1	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80199984	80199984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80199984C>A	ENST00000450142.2	-	13	2051	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K595N|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K595N|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.K508N	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	595	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCGTTGTAATCTTTGTAGTAG	0.453000													26	243					3.01185e-09	3.6461e-09	1	1	0
USP6	9098	broad.mit.edu	37	17	5048783	5048783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5048783G>T	ENST00000574788.1	+	27	4306	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	USP6_ENST00000250066.6_Missense_Mutation_p.K692N|USP6_ENST00000304328.5_Missense_Mutation_p.K375N|USP6_ENST00000332776.4_Missense_Mutation_p.K692N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	692					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATGCAAGACATGTGGGC	0.388000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								32	53					2.46105e-21	3.23713e-21	1	1	0
ERN1	2081	broad.mit.edu	37	17	62122804	62122804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62122804G>A	ENST00000433197.2	-	20	2663	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	856	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACGATCGGGCCATCCAGGG	0.562000													9	31					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109098228	109098228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109098228C>T	ENST00000309863.6	+	10	3850	c.3136C>T	c.(3136-3138)Cgt>Tgt	p.R1046C		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1046					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTGAGCATCGTATTGAAGA	0.279000													16	29					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49662148	49662148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49662148C>T	ENST00000249601.4	-	7	1145	c.849G>A	c.(847-849)ctG>ctA	p.L283L	ARHGAP22_ENST00000374172.1_Silent_p.L174L|ARHGAP22_ENST00000417247.2_Silent_p.L193L|ARHGAP22_ENST00000435790.2_Silent_p.L289L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000417912.2_Silent_p.L299L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	283	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATCTGAGCAGGTTGTAAT	0.527000													6	63					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139288934	139288934	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139288934A>G	ENST00000406875.3	-	10	2242	c.2148T>C	c.(2146-2148)ctT>ctC	p.L716L	HIPK2_ENST00000428878.2_Silent_p.L689L|HIPK2_ENST00000342645.6_Silent_p.L716L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	716	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGCTGGGGGAAGCAGGATCT	0.562000													11	180					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55571571	55571571	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55571571G>A	ENST00000436346.1	-	11	1962	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CCDC88A_ENST00000336838.6_Missense_Mutation_p.S374F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S374F|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S374F	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	374					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTTATCAGAACGAGCACG	0.318000													14	33					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58132695	58132695	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58132695C>T	ENST00000357272.4	+	34	5868	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	FLNB_ENST00000429972.2_Silent_p.G1890G|FLNB_ENST00000358537.3_Silent_p.G1877G|FLNB_ENST00000490882.1_Silent_p.G1932G|FLNB_ENST00000419752.2_Silent_p.G1721G|FLNB_ENST00000348383.5_Silent_p.G1901G|FLNB_ENST00000295956.4_Silent_p.G1901G|FLNB_ENST00000493452.1_Silent_p.G1708G			O75369	FLNB_HUMAN	filamin B, beta	1901	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCCTGGCAGCCCCTTCA	0.542000													5	33					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1584919C>T	ENST00000572621.1	-	5	984	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R240H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	240						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468000													46	93					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19679690	19679690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19679690G>A	ENST00000395544.4	-	27	3582	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	ULK2_ENST00000361658.2_Missense_Mutation_p.A1028V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	1028					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATGGCAGAGCGCCGACAGTCT	0.428000													4	3					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37285656	37285656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37285656G>T	ENST00000233099.5	-	14	2092	c.1997C>A	c.(1996-1998)gCt>gAt	p.A666D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A666D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	666							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACCATTGCAGCACTAGCTTT	0.323000													4	60					0.150653	0.152692	1	1	0
PLA2G16	11145	broad.mit.edu	37	11	63357748	63357748	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63357748T>C	ENST00000323646.5	-	3	565	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	PLA2G16_ENST00000415826.1_Missense_Mutation_p.S71G|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	71					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACTTGTCACTCCCGGCCACA	0.572000													3	60					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129596169	129596169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129596169C>T	ENST00000373464.4	+	3	1645	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.Q461*|ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.Q461*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTGAGCAGAATACAAC	0.428000													52	90					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188195	7188195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188195G>T	ENST00000542285.1	-	11	1752	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAGCCCAGGTCGTAGAAG	0.567000													9	17					7.48243e-07	8.70085e-07	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11535183	11535183	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11535183T>C	ENST00000379237.1	-	8	823	c.429A>G	c.(427-429)caA>caG	p.Q143Q	USP6NL_ENST00000277575.5_Silent_p.Q160Q	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCAGGTCTATTTGTCTGATGT	0.368000													8	11					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694443	141694443	+	Silent	SNP	C	C	T	rs143709567	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694443C>T	ENST00000344120.4	-	3	486	c.300G>A	c.(298-300)acG>acA	p.T100T	SPRY4_ENST00000434127.2_Silent_p.T77T	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	77	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCGGGCGTCGGGGCCA	0.662000									Testicular Cancer, Familial Clustering of				23	32					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104453788	104453788	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104453788A>C	ENST00000297579.5	+	10	1925	c.1648A>C	c.(1648-1650)Aaa>Caa	p.K550Q		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	398					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCTACCAAAATCTATCTA	0.383000													10	126					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160763653	160763653	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160763653A>G	ENST00000274547.2	-	7	882	c.665T>C	c.(664-666)gTt>gCt	p.V222A	GABRB2_ENST00000353437.6_Missense_Mutation_p.V222A|GABRB2_ENST00000520240.1_Missense_Mutation_p.V222A|GABRB2_ENST00000517901.1_Missense_Mutation_p.V159A|GABRB2_ENST00000517547.1_Missense_Mutation_p.V62A|GABRB2_ENST00000393959.1_Missense_Mutation_p.V222A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	222					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAAAAAACAACCTTCTTGGT	0.358000													33	41					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682820	140682820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140682820C>A	ENST00000239451.4	-	1	792	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	205					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCTAGTTCATCTTTTGATCTC	0.438000													6	68					0.00116845	0.00124821	1	1	0
PKMYT1	9088	broad.mit.edu	37	16	3024032	3024032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3024032G>A	ENST00000431515.2	-	7	1664	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	PKMYT1_ENST00000574730.1_Missense_Mutation_p.L358F|PKMYT1_ENST00000573944.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000262300.8_Missense_Mutation_p.L427F|PKMYT1_ENST00000574385.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000440027.2_Missense_Mutation_p.L427F			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	427	Interaction with PIN1.			L -> F (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TTGCTGGAGAGGCTGCTGTCC	0.662000													12	11					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961178	133961178	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133961178G>T	ENST00000220616.4	+	27	5431	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	TG_ENST00000542445.1_Missense_Mutation_p.E167D|TG_ENST00000377869.1_Missense_Mutation_p.E1740D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1797					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACCAGGAGTTCATCAAGA	0.478000													32	62					6.00712e-18	7.8162e-18	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42557982G>A	ENST00000262895.3	-	9	1155	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GRIK5_ENST00000593562.1_Missense_Mutation_p.R386C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R386C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	386						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCACGGTGGCCCTGC	0.647000													6	17					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31379113	31379113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31379113C>T	ENST00000449934.2	+	3	644	c.590C>T	c.(589-591)tCc>tTc	p.S197F	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	197					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TATCTAGAATCCGGCGTAGTC	0.537000													4	2					0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420783C>T	ENST00000312026.5	-	3	1027	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287Q|ZNF417_ENST00000536263.1_Missense_Mutation_p.R89Q	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458000													57	126					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72244143	72244143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72244143G>A	ENST00000582365.1	+	7	818	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNDP1_ENST00000358821.3_Missense_Mutation_p.G294E			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	294					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G294E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453000													37	48					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141007475	141007475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141007475C>A	ENST00000305264.3	-	10	894	c.815G>T	c.(814-816)aGc>aTc	p.S272I		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	272	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCCTCGGATGCTGAGGTTAAA	0.527000													6	60					0.000157383	0.00017284	1	1	0
TULP2	7288	broad.mit.edu	37	19	49385367	49385367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49385367C>T	ENST00000221399.3	-	12	1513	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	457					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGTAGACACCGTTCTCCTTG	0.512000													35	49					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904225	33904225	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33904225T>A	ENST00000225873.4	-	2	1119	c.512A>T	c.(511-513)gAa>gTa	p.E171V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	171					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACCATCCTTCCCAGGCCAT	0.483000													23	25					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966243	2966243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966243C>T	ENST00000575751.1	-	1	658	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TCTGACAATACGTACATAGGA	0.493000													6	27					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815105	242815105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242815105G>A	ENST00000343216.3	+	2	1426	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	466						integral to membrane											GCCCCATCACGGTTAGTGAGG	0.612000													25	35					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80040524	80040524	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80040524C>A	ENST00000341700.6	-	6	1344	c.831G>T	c.(829-831)gaG>gaT	p.E277D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	277					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						ACATGATTTTCTCTTCCAAAA	0.403000													35	39					1.22384e-17	1.58917e-17	1	1	0
PPID	5481	broad.mit.edu	37	4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378000													22	9					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851554	47851554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47851554G>T	ENST00000289672.2	-	50	7492	c.7442C>A	c.(7441-7443)cCt>cAt	p.P2481H	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2481					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGGGTTGGAGGGTTATAGAG	0.587000													9	2					1.58986e-06	1.84011e-06	1	1	0
CRYZL1	9946	broad.mit.edu	37	21	34975779	34975779	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34975779G>T	ENST00000361534.2	-	8	607	c.468C>A	c.(466-468)gcC>gcA	p.A156A	CRYZL1_ENST00000445393.1_Silent_p.A94A|CRYZL1_ENST00000381540.3_Silent_p.A132A|CRYZL1_ENST00000381554.3_Silent_p.A132A|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Silent_p.A117A			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	132					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAGCTGTATAGGCACGCACTC	0.418000													9	129					0.0692343	0.0706532	1	1	0
TAX1BP1	8887	broad.mit.edu	37	7	27788186	27788186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27788186G>A	ENST00000396319.2	+	2	131	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A15T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A15T|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A15T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	15					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTCCAACTTTGCCCATGTCAT	0.358000													8	69					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548564	22548564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22548564G>T	ENST00000317216.2	-	2	943	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.L158I|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	196					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGGTAGAGGTTGTAGTCA	0.617000													25	28					7.38237e-10	9.02878e-10	1	1	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107528737	107528737	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107528737C>A	ENST00000374762.3	+	2	263	c.192C>A	c.(190-192)acC>acA	p.T64T	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						ATCTTCGGACCTCTTACTCTG	0.343000													6	147					0.00198382	0.00210581	1	1	0
CKAP4	10970	broad.mit.edu	37	12	106633424	106633424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106633424G>A	ENST00000378026.4	-	2	1323	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AAAGGCTTCCGAGTGTCTGAA	0.637000													29	32					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365896	120365896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120365896G>A	ENST00000283871.5	-	8	932	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	158					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCTTTCTGCGGAACTGACAA	0.448000													25	42					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493506	130493506	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493506T>A	ENST00000373289.3	+	14	2524	c.2444T>A	c.(2443-2445)cTc>cAc	p.L815H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	815							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACTGGAGCCTCAGCAAAACT	0.597000													15	31					0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42964361	42964361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42964361T>C	ENST00000538645.1	-	3	225	c.53A>G	c.(52-54)cAa>cGa	p.Q18R	PSMA2_ENST00000442788.1_Missense_Mutation_p.Q96R|PSMA2_ENST00000445517.1_Missense_Mutation_p.Q26R|PSMA2_ENST00000223321.4_Missense_Mutation_p.Q96R			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGATAGTATTGTTGAGCTAG	0.403000													18	78					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90328653	90328653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90328653G>A	ENST00000300060.6	-	21	3144	c.2831C>T	c.(2830-2832)aCg>aTg	p.T944M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	944	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTTGGCTTTCGTCTTCTCCAG	0.547000													55	66					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100662836	100662836	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662836A>C	ENST00000218516.3	-	1	77	c.56T>G	c.(55-57)cTg>cGg	p.L19R	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	19					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	AACGAGGGCCAGGAAGCGAAG	0.602000													12	98					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378786	101378786	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101378786C>T	ENST00000312938.4	-	6	2467	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAATTGGACGAGGATGAAG	0.398000													26	39					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25835792	25835792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25835792C>A	ENST00000280701.3	+	3	1286	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	OXSM_ENST00000420173.2_Missense_Mutation_p.A313D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	396					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCGAGGCAGCTTTTACCACA	0.438000													9	93					1.12685e-05	1.27857e-05	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92887538	92887538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92887538C>T	ENST00000544910.1	+	8	620	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	CCDC132_ENST00000251739.5_Missense_Mutation_p.R164C|CCDC132_ENST00000305866.5_Missense_Mutation_p.R164C|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	164										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAAGGAAACGTCAGTTGCT	0.313000													10	48					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396998	38396998	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38396998T>G	ENST00000377698.3	+	2	1406	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	418					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGGAGATCTTTGGGCCTGTG	0.557000													12	26					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902708	236902708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236902708G>A	ENST00000366578.4	+	10	1149	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.R328Q|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	328					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATTACCGCCGGAAGCACAAG	0.577000													7	80					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209950737G>A	ENST00000367024.1	+	12	1610	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537000													6	28					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	678709	678709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:678709G>A	ENST00000319815.6	-	4	1479	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ENOSF1_ENST00000383578.3_Missense_Mutation_p.A220V|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000251101.7_Missense_Mutation_p.A302V|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A226V			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	302					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTCTCCTGTGGCAATGCCAAT	0.483000													8	82					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340879	160340879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160340879G>A	ENST00000302101.5	+	2	804	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	120	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCGCCTGGCCATCTGCTA	0.622000													18	52					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27663750	27663750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27663750C>T	ENST00000233557.3	+	15	2104	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NRBP1_ENST00000379852.3_Silent_p.V424V|NRBP1_ENST00000379863.3_Silent_p.V432V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	424					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCACCTGTCGTGCCCCCCT	0.602000													21	32					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499092	57499092	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57499092C>A	ENST00000300134.3	-	9	1168	c.843G>T	c.(841-843)caG>caT	p.Q281H	STAT6_ENST00000538913.2_Missense_Mutation_p.Q171H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q171H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q281H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q281H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q281H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCTTCAGTACCTGGGGGGGCT	0.632000													5	43					0.014758	0.0152625	1	1	0
CREB3	10488	broad.mit.edu	37	9	35736702	35736702	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35736702G>A	ENST00000353704.2	+	9	1533	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	389	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGTCATTTTGCAGGACAGAT	0.562000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	149					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130495551	130495551	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130495551C>T	ENST00000373281.5	-	3	729	c.706G>A	c.(706-708)Gct>Act	p.A236T	TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000373284.5_Intron|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	0					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						ACTGGGAAAGCCCAGCTAAGC	0.542000													29	60					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70349948	70349948	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70349948C>T	ENST00000288071.6	+	4	482	c.237C>T	c.(235-237)gtC>gtT	p.V79V	DDX19B_ENST00000563206.1_Silent_p.V84V|DDX19B_ENST00000451014.3_Silent_p.V84V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000355992.3_Silent_p.V79V|DDX19B_ENST00000563392.1_5'UTR|RP11-529K1.3_ENST00000567706.1_Silent_p.V79V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	79					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAGTGGAAGTCCTGCAGCGGG	0.473000													83	188					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197511119	197511119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511119G>A	ENST00000389175.4	+	2	202	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	23										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACATCAACGCTACAGCTTC	0.418000													42	64					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140444	2140444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2140444A>G	ENST00000262304.4	-	45	12494	c.12286T>C	c.(12286-12288)Tgg>Cgg	p.W4096R	PKD1_ENST00000423118.1_Missense_Mutation_p.W4095R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4096					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCGCCCCACAGCCGCAGT	0.677000													4	9					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091284	26091284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091284T>C	ENST00000357618.5	+	2	414	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	HFE_ENST00000309234.6_Missense_Mutation_p.F98L|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.F98L|HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.F98L|HFE_ENST00000470149.1_Missense_Mutation_p.F98L|HFE_ENST00000461397.1_Missense_Mutation_p.F98L|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.F75L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATCACATGTTCACTGTTGA	0.507000									Hemochromatosis				24	49					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78327925	78327925	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78327925T>C	ENST00000582970.1	+	35	10828	c.10685T>C	c.(10684-10686)gTg>gCg	p.V3562A	RNF213_ENST00000336301.6_Missense_Mutation_p.V1635A|RNF213_ENST00000508628.2_Missense_Mutation_p.V3611A|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGGTGGTGCTCCTCCTG	0.637000													6	44					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146686752	146686752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146686752G>T	ENST00000508784.1	-	12	3226	c.2999C>A	c.(2998-3000)tCt>tAt	p.S1000Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.S1000Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.S650Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	1000					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGCATGACAGAGATGACCAG	0.542000													4	83					0.00909568	0.00947522	1	1	0
CAPSL	133690	broad.mit.edu	37	5	35921134	35921134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921134C>T	ENST00000397367.2	-	2	215	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CAPSL_ENST00000397366.1_Missense_Mutation_p.R30Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.R30Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCACTGCAGTCGGAGTCTTTC	0.607000													16	39					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335749	180335749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180335749G>T	ENST00000231229.4	+	2	447	c.213G>T	c.(211-213)aaG>aaT	p.K71N	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.K71N|BTNL8_ENST00000340184.4_Missense_Mutation_p.K71N	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	71	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACGGGAAGGACCAGCCAT	0.527000													34	80					3.03874e-20	3.98683e-20	1	1	0
RGS18	64407	broad.mit.edu	37	1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274000													11	38					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30632392	30632392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30632392G>A	ENST00000269051.4	+	7	828	c.814G>A	c.(814-816)Gct>Act	p.A272T	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264T|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174T	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	272					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.A272S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577000													28	64					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55452039	55452039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55452039G>A	ENST00000371268.3	+	2	559	c.285G>A	c.(283-285)ggG>ggA	p.G95G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	95						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCATCCCAGGGCCACCTCGAT	0.642000													59	96					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78973785	78973785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78973785G>A	ENST00000545128.1	+	37	6068	c.5530G>A	c.(5530-5532)Gat>Aat	p.D1844N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTGGATGACGATGACATAGA	0.493000													14	40					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8998370	8998370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8998370C>A	ENST00000344836.4	-	15	1824	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	USP7_ENST00000381886.4_Missense_Mutation_p.E526D|USP7_ENST00000535863.1_Missense_Mutation_p.E443D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	542					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTGTAATCGCTCCACCAACT	0.547000													37	31					1.67305e-13	2.12277e-13	1	1	0
ARID3C	138715	broad.mit.edu	37	9	34622473	34622473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34622473C>A	ENST00000378909.2	-	5	1011	c.919G>T	c.(919-921)Gga>Tga	p.G307*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	307	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGTGTAGGTCCCAGTGCCAGG	0.577000													7	48					5.18039e-06	5.91835e-06	1	1	0
P4HA2	8974	broad.mit.edu	37	5	131554263	131554263	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131554263C>T	ENST00000401867.1	-	3	625	c.57G>A	c.(55-57)gtG>gtA	p.V19V	P4HA2_ENST00000379086.1_Silent_p.V19V|P4HA2_ENST00000379100.2_Silent_p.V19V|P4HA2_ENST00000360568.3_Silent_p.V19V|P4HA2_ENST00000379104.2_Silent_p.V19V|P4HA2_ENST00000166534.4_Silent_p.V19V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	19						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTCGGCCTGCACACAGCTCA	0.527000													4	13					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7750057	7750057	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7750057A>G	ENST00000254846.5	+	8	1099	c.711_splice	c.e8+1	p.Q237_splice	KDM6B_ENST00000448097.2_Splice_Site_p.Q237_splice	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	237	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AACTCTGAACAGGTGTGGGTA	0.622000													4	67					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65396306C>T	ENST00000355703.3	+	24	4367	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667000													5	14					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63862003	63862003	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63862003C>T	ENST00000337537.3	-	7	1283	c.680_splice	c.e7-1	p.R227_splice	PPP2R5E_ENST00000422769.2_Splice_Site_p.R151_splice|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.R227_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	227					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CATAAACAAACCTGAGAGAAG	0.453000													25	50					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140669648	140669648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140669648C>T	ENST00000460843.1	+	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R548W|EHMT1_ENST00000462484.1_Missense_Mutation_p.R579W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	579					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGAAGACCACCGGGGCCGCAT	0.617000													9	23					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005101	50005101	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005101G>A	ENST00000266022.4	+	3	502	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	81					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGACGGACCGCATGGTGACT	0.507000													56	65					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124090749	124090749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124090749G>T	ENST00000368994.2	+	12	1316	c.1065G>T	c.(1063-1065)caG>caT	p.Q355H	BTBD16_ENST00000260723.4_Missense_Mutation_p.Q354H			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	354										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCTCGACCAGGTTACAGTCA	0.463000													5	61					0.014758	0.0152625	1	1	0
CEP192	55125	broad.mit.edu	37	18	13103524	13103524	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103524C>T	ENST00000506447.1	+	39	6968	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L	CEP192_ENST00000325971.8_Silent_p.L1700L|CEP192_ENST00000430049.2_Silent_p.L1821L|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1891										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTAGAACTCGAGAATCATG	0.433000													8	77					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176190	160176190	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176190C>A	ENST00000358372.4	+	8	2495	c.738C>A	c.(736-738)gcC>gcA	p.A246A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	246					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCTCAGGCCTCTGCCCCAA	0.522000													4	25					0.150653	0.152692	1	1	0
THG1L	54974	broad.mit.edu	37	5	157159948	157159948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157159948G>T	ENST00000231198.7	+	2	508	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	88					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGTGCGCAGACTGTGATGG	0.453000													16	102					1.15088e-07	1.35723e-07	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25686851	25686851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25686851T>C	ENST00000435706.2	-	2	366	c.165A>G	c.(163-165)caA>caG	p.Q55Q	TOP2B_ENST00000264331.4_Silent_p.Q60Q			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	60					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGTTCAAGTTGTGTCTTCT	0.368000													6	94					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4539075	4539075	+	Silent	SNP	C	C	T	rs142441164	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4539075C>T	ENST00000570836.1	-	9	1236	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	ALOX15_ENST00000574640.1_Silent_p.P341P|ALOX15_ENST00000293761.3_Silent_p.P380P|ALOX15_ENST00000545513.1_Silent_p.P402P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	380	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GATGTATCGACGGCAGGCACC	0.562000													18	27					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6152028	6152028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6152028C>T	ENST00000446108.1	+	7	1286	c.642C>T	c.(640-642)taC>taT	p.Y214Y	RBM17_ENST00000379888.4_Silent_p.Y214Y	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	214				Y -> H (in Ref. 1; AAH09064).	mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCCAGTGTACGAGGAACAAG	0.453000													31	54					0	0	1	0	0
YIPF6	286451	broad.mit.edu	37	X	67741284	67741284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67741284G>A	ENST00000462683.1	+	5	1123	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	YIPF6_ENST00000374622.2_Missense_Mutation_p.V84I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	127						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGTCATTGTCTGGTTTGG	0.418000													9	83					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52863359	52863359	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52863359G>A	ENST00000371568.3	-	4	618	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ORC1_ENST00000371566.1_Missense_Mutation_p.R134W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	134	BAH.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCACCTACCCGAACAAGGCCA	0.493000													4	47					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26672923	26672923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26672923C>T	ENST00000288710.2	+	12	1643	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGAATGAATGCTATCTGCTGA	0.607000													5	9					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799818	130799818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130799818G>A	ENST00000509018.1	-	18	2601	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S804F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S514F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S799F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S849F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	799	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAGTAACAGAAACTTCACA	0.383000													20	46					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45826817	45826817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45826817C>A	ENST00000263736.4	-	4	481	c.419G>T	c.(418-420)aGc>aTc	p.S140I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	140					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCTGGCTTTGCTGGTTTCTTC	0.453000													7	277					0.0581538	0.0593651	1	1	0
HEXIM1	10614	broad.mit.edu	37	17	43227297	43227297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43227297A>G	ENST00000332499.2	+	1	2614	c.740A>G	c.(739-741)gAg>gGg	p.E247G		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	247	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAAGGGGGTGAGGAGGATGGG	0.637000													4	37					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115639428	115639428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115639428G>T	ENST00000369301.3	+	4	1095	c.883G>T	c.(883-885)Gac>Tac	p.D295Y		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	295					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATATGTGGCAGACACTGAAAA	0.294000													4	41					0.00909568	0.00947522	1	1	0
H6PD	9563	broad.mit.edu	37	1	9322333	9322333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9322333C>T	ENST00000377403.2	+	4	1263	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	H6PD_ENST00000602477.1_Missense_Mutation_p.R332C	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	321	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAGCAGGTGCGCAGAGAGCT	0.677000													5	3					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411126	2411126	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2411126G>A	ENST00000202625.2	+	11	1774	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TGM6_ENST00000381423.1_Silent_p.K571K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	571					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTTACTCTAAGTATAAAGAAG	0.458000													12	94					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925767	28925767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925767G>A	ENST00000358201.4	-	5	1272	c.684C>T	c.(682-684)tgC>tgT	p.C228C	RABEP2_ENST00000544477.1_Silent_p.C157C|RABEP2_ENST00000357573.6_Silent_p.C228C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	228					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTGTCATCGCAGTTGTGAG	0.677000													13	19					0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416192	75416192	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75416192G>A	ENST00000555567.1	-	3	724	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PGF_ENST00000405431.2_Silent_p.V61V|PGF_ENST00000553716.1_Silent_p.V61V|PGF_ENST00000238607.6_Silent_p.V60V	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	61					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACTCGGACACGACGTCCACCA	0.657000													11	17					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72171523	72171523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72171523C>T	ENST00000337273.5	+	8	1186	c.760C>T	c.(760-762)Cga>Tga	p.R254*	TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R246*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R204*|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R204*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	254					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTCGAAGTTCGAATGGATCG	0.408000													36	51					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136318	116136318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116136318C>A	ENST00000238379.5	-	2	1214	c.317G>T	c.(316-318)aGc>aTc	p.S106I	HDHD3_ENST00000374180.3_Missense_Mutation_p.S106I|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	106							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGGGTGGCTGAAGTCTTT	0.602000													15	91					1.15088e-07	1.35723e-07	1	1	0
OXR1	55074	broad.mit.edu	37	8	107763107	107763107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107763107C>T	ENST00000445937.1	+	16	2740	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C	OXR1_ENST00000312046.6_Missense_Mutation_p.R820C|OXR1_ENST00000297447.6_Missense_Mutation_p.R224C|OXR1_ENST00000452423.2_Missense_Mutation_p.R275C|OXR1_ENST00000442977.2_Missense_Mutation_p.R855C|OXR1_ENST00000517566.2_Missense_Mutation_p.R854C|OXR1_ENST00000531443.1_Missense_Mutation_p.R827C|OXR1_ENST00000521592.1_Missense_Mutation_p.R100C|OXR1_ENST00000449762.2_Missense_Mutation_p.R197C	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	855	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTTGGGAATCGTACACTTTC	0.363000													27	60					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315692	208315692	+	Silent	SNP	G	G	A	rs149871348	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208315692G>A	ENST00000367033.3	-	4	2245	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	496	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGACATGACGTACAGGTAGC	0.512000													34	36					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16528435	16528435	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16528435T>G	ENST00000378000.1	+	4	763	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.S173A|PTER_ENST00000535784.2_Missense_Mutation_p.S173A|PTER_ENST00000423462.2_Missense_Mutation_p.S173A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	173					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AATTGGTTGCTCCTGGCCTTT	0.478000													7	98					0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34911885	34911885	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911885C>A	ENST00000382038.2	-	4	1759	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	RAD1_ENST00000341754.4_Missense_Mutation_p.G114C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	114			G -> D (in dbSNP:rs2308957).		DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAACCATAACCTTGGTAACAC	0.443000								Other conserved DNA damage response genes					13	98					4.3838e-07	5.12524e-07	1	1	0
NPR2	4882	broad.mit.edu	37	9	35805938	35805938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35805938G>A	ENST00000342694.2	+	14	2414	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	720	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAGCACTTCGCAGTGGTCCT	0.547000													40	49					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95546134	95546134	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95546134C>T	ENST00000325542.5	+	3	479	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R54*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R81*|CEP57_ENST00000538658.1_Nonsense_Mutation_p.R81*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.R72*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	81	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAGATTCGACGCTTGGA	0.368000									Mosaic Variegated Aneuploidy Syndrome				32	58					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712677	1712677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712677G>A	ENST00000313871.3	+	2	518	c.322G>A	c.(322-324)Gac>Aac	p.D108N	AKAP17A_ENST00000381261.3_Missense_Mutation_p.D108N	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	108	PKA-RI and PKA-RII subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGGCTTCTCCGACATCCTGAA	0.607000													48	88					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117492104	117492104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492104G>A	ENST00000393203.2	+	4	1270	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	375	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGCCACGTGTCCCTGTG	0.552000													36	41					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28348654	28348654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28348654C>A	ENST00000337532.5	-	15	1499	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_ENST00000375732.1_Missense_Mutation_p.R408I|MPP7_ENST00000540098.1_Missense_Mutation_p.R408I|MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000375719.3_Missense_Mutation_p.R408I	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	408	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R408I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338000													6	59					0.000157383	0.00017284	1	1	0
HPS4	89781	broad.mit.edu	37	22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26868841C>A	ENST00000398145.2	-	5	957	c.341G>T	c.(340-342)gGa>gTa	p.G114V	HPS4_ENST00000336873.5_Missense_Mutation_p.G114V|HPS4_ENST00000398141.1_Missense_Mutation_p.G109V|HPS4_ENST00000402105.3_Missense_Mutation_p.G109V	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTAAAGAATCCAACTAGCTG	0.458000									Hermansky-Pudlak syndrome				26	53					1.7881e-09	2.17656e-09	1	1	0
RP11-47I22.4	0	broad.mit.edu	37	14	61997175	61997175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61997175C>T	ENST00000556347.1	+	2	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PRKCH_ENST00000555082.1_Silent_p.G380G|PRKCH_ENST00000332981.5_Silent_p.G541G																							GGGCAATGGGCGTGTTGCTCT	0.517000													54	102					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105199624	105199624	+	Splice_Site	SNP	C	C	T	rs113940597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105199624C>T	ENST00000369797.3	+	28	4241	c.4148_splice	c.e28+1	p.R1383_splice		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1383	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGGTCCTACGGTAGGTGCC	0.522000													32	26					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149183	50149183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50149183A>G	ENST00000404971.1	-	24	5882	c.4543T>C	c.(4543-4545)Tca>Cca	p.S1515P	NRXN1_ENST00000402717.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000401710.1_Missense_Mutation_p.S463P|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1475P|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1445P|NRXN1_ENST00000342183.5_Missense_Mutation_p.S410P|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1445P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1445					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGTGCTGAGTTACTGATG	0.448000													27	58					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611405G>T	ENST00000460843.1	+	3	440	c.413G>T	c.(412-414)aGg>aTg	p.R138M	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107M|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138M	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567000													4	60					0.217242	0.218821	1	1	0
MDH1B	130752	broad.mit.edu	37	2	207621692	207621692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207621692G>A	ENST00000374412.3	-	4	618	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	MDH1B_ENST00000449792.1_Missense_Mutation_p.H17Y|MDH1B_ENST00000454776.2_Missense_Mutation_p.H115Y|MDH1B_ENST00000392214.2_Missense_Mutation_p.H115Y	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	115					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTTTCTATATGTGCCCCCAGG	0.443000													4	75					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161316	132161316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161316C>A	ENST00000511190.1	-	6	1402	c.933G>T	c.(931-933)caG>caT	p.Q311H	USP26_ENST00000406273.1_Missense_Mutation_p.Q311H|USP26_ENST00000370832.1_Missense_Mutation_p.Q311H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAGTAGAGACTGTAACACTG	0.393000													27	36					3.73988e-18	4.86822e-18	1	1	0
ST18	9705	broad.mit.edu	37	8	53084774	53084774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084774G>T	ENST00000276480.7	-	10	1330	c.647C>A	c.(646-648)cCt>cAt	p.P216H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGACTCTAGGTGGTTTGGT	0.413000													19	47					7.07596e-05	7.86387e-05	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578110	9578110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578110C>T	ENST00000301480.4	-	10	1726	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCAAATGAGCAAAAAGAGAT	0.408000													51	78					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267022	40267022	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40267022C>A	ENST00000225916.5	-	13	1960	c.1907G>T	c.(1906-1908)aGc>aTc	p.S636I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	636	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGTAGCGGCTCTTGGGCAC	0.567000													13	175					3.27435e-08	3.90559e-08	1	1	0
SLC2A12	154091	broad.mit.edu	37	6	134350472	134350472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350472C>A	ENST00000275230.5	-	2	646	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	164						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAAGGCCTCTTCTGTGTTG	0.458000													14	73					1.5739e-10	1.9432e-10	1	1	0
PCDHGB6	0	broad.mit.edu	37	5	140788768	140788768	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788768A>G	ENST00000520790.1	+	1	999	c.999A>G	c.(997-999)gtA>gtG	p.V333V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTAAAGTAATCATAGAAA	0.403000													33	46					0	0	1	0	0
MID1	0	broad.mit.edu	37	X	10535405	10535405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10535405A>G	ENST00000317552.4	-	2	583	c.183T>C	c.(181-183)caT>caC	p.H61H	MID1_ENST00000380785.1_Silent_p.H61H|MID1_ENST00000380787.1_Silent_p.H61H|MID1_ENST00000380782.2_Silent_p.H61H|MID1_ENST00000453318.2_Silent_p.H61H|MID1_ENST00000380780.1_Silent_p.H61H|MID1_ENST00000380779.1_Silent_p.H61H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	61					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGTGATGACATGCCGGCAGG	0.597000													7	90					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100435	133100435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133100435G>T	ENST00000275227.4	-	7	863	c.767C>A	c.(766-768)cCt>cAt	p.P256H	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Missense_Mutation_p.P130H	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	256					transmembrane transport	integral to membrane											AGACAGAGTAGGATCGAGGAA	0.473000													25	67					3.73808e-20	4.90194e-20	1	1	0
OLFM1	10439	broad.mit.edu	37	9	138011443	138011443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138011443C>T	ENST00000252854.4	+	6	1010	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	OLFM1_ENST00000371796.3_Missense_Mutation_p.R266C|OLFM1_ENST00000371793.3_Missense_Mutation_p.R293C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	293	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACCTCCCACCGTCTCCCCCA	0.527000													22	37					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107155035	107155035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107155035C>A	ENST00000392842.1	+	18	2410	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	RFX4_ENST00000357881.4_Missense_Mutation_p.L675M|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.L572M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	666					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTCCCAGACTGCATCCTAC	0.517000													61	117					5.82218e-30	7.79564e-30	1	1	0
SLC38A3	10991	broad.mit.edu	37	3	50252882	50252882	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50252882G>T	ENST00000420502.1	+	0	517							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAAGTCCTCAGGGGTCGTGGG	0.587000													6	61					1.12685e-05	1.27857e-05	1	1	0
KDM3A	55818	broad.mit.edu	37	2	86705788	86705788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86705788C>T	ENST00000409556.1	+	16	2611	c.2246C>T	c.(2245-2247)gCa>gTa	p.A749V	KDM3A_ENST00000409064.1_Missense_Mutation_p.A749V|KDM3A_ENST00000542128.1_Missense_Mutation_p.A697V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A749V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	749					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAATAAAGGCAAACTGCCCT	0.393000													17	57					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881326	11881326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11881326G>A	ENST00000322748.3	-	9	2202	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	ZNF18_ENST00000454073.3_Missense_Mutation_p.S532L|ZNF18_ENST00000580306.1_Missense_Mutation_p.S533L|ZNF18_ENST00000580613.1_3'UTR	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	533					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCAAGGCTCGAGCTCCAGCT	0.433000													7	116					0	0	1	0	0
FAM41C	0	broad.mit.edu	37	1	809535	809535	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:809535G>A	ENST00000446136.1	-	0	1158					NR_027055.1																						CTTCAAGCGTGTCTCAGAGCA	0.517000													4	70					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058021	100058021	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058021C>T	ENST00000394140.3	+	2	189	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	33	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GAGGCAGCAACGCAAGGAGCC	0.502000													14	144					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158622483	158622483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158622483C>A	ENST00000263640.3	-	8	1445	c.1016G>T	c.(1015-1017)aGc>aTc	p.S339I	ACVR1_ENST00000410057.2_Missense_Mutation_p.S339I|ACVR1_ENST00000409283.2_Missense_Mutation_p.S339I|ACVR1_ENST00000434821.1_Missense_Mutation_p.S339I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	339	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AATATTTTTGCTCTTTAAATC	0.368000													8	65					0.0477658	0.0488009	1	1	0
TRIM51HP	0	broad.mit.edu	37	11	55065673	55065673	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065673G>T	ENST00000526016.1	-	0	35					NR_038174.2																						ATGGTGACTGGGTCTAGGAAG	0.488000													6	58					8.12818e-05	8.99451e-05	1	1	0
PSD	5662	broad.mit.edu	37	10	104176346	104176346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104176346C>T	ENST00000020673.5	-	2	976	c.450G>A	c.(448-450)cgG>cgA	p.R150R	PSD_ENST00000406432.1_Silent_p.R150R	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	150	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGCTTCCAGCCGTAACTTCC	0.667000													11	19					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13103558	13103558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103558C>A	ENST00000506447.1	+	39	7002	c.6922C>A	c.(6922-6924)Ctg>Atg	p.L2308M	CEP192_ENST00000325971.8_Missense_Mutation_p.L1712M|CEP192_ENST00000430049.2_Missense_Mutation_p.L1833M|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1903										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAATGGCATCTGTCATCTTT	0.408000													28	58					1.34939e-06	1.56667e-06	1	1	0
CCKAR	886	broad.mit.edu	37	4	26490892	26490892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26490892G>A	ENST00000295589.3	-	2	521	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	109					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.F109F(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557000													52	81					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831736	27831736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27831736C>T	ENST00000396319.2	+	9	1238	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R227*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R384*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	384	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCAACGTACGAGACAGAAC	0.438000													6	95					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459754	69459754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69459754C>A	ENST00000374521.3	+	6	843	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	268					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CACTGGGCTCCTGCCATACTC	0.537000													22	28					3.10358e-05	3.48756e-05	1	1	0
CCNC	892	broad.mit.edu	37	6	100009529	100009529	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100009529T>C	ENST00000520429.1	-	3	613	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CCNC_ENST00000482541.2_Silent_p.K56K|CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.K56K|CCNC_ENST00000520371.1_Silent_p.K56K|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000518714.1_Silent_p.K56K	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	56	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTGTCTTAATTTAAGATGTT	0.274000													8	77					0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527961	51527961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51527961G>A	ENST00000594768.1	-	3	411	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	KLK11_ENST00000391804.3_Missense_Mutation_p.R44W|KLK11_ENST00000319720.7_Missense_Mutation_p.R44W|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.R44W|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGTAGCCGCGTCTTCTCG	0.682000													7	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179606116	179606116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606116G>T	ENST00000589042.1	-	48	12068	c.11844C>A	c.(11842-11844)cgC>cgA	p.R3948R	TTN_ENST00000460472.2_Silent_p.R3585R|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.R3710R|TTN_ENST00000342175.6_Silent_p.R3777R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R3631R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGCACAGCGAATTGGTT	0.478000													17	158					4.7546e-09	5.74312e-09	1	1	0
PCDHGC3	0	broad.mit.edu	37	5	140857116	140857116	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140857116A>G	ENST00000308177.3	+	1	1537	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACTAAACCTAAGTGTC	0.502000													14	124					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51009825	51009825	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51009825C>T	ENST00000360719.2	-	14	1856	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.A573A|CPT1B_ENST00000405237.3_Silent_p.A573A|CPT1B_ENST00000434492.2_Silent_p.A368A|CPT1B_ENST00000440709.1_Silent_p.A492A|CPT1B_ENST00000312108.7_Silent_p.A573A|CPT1B_ENST00000457250.1_Silent_p.A539A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	573					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGCTGCAGCGCGATCTGCA	0.612000													33	35					0	0	1	0	0
COL6A2	0	broad.mit.edu	37	21	47532002	47532002	+	Silent	SNP	G	G	A	rs143678454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47532002G>A	ENST00000300527.4	+	3	329	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000357838.4_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607000													9	35					0	0	1	0	0
GTDC2	0	broad.mit.edu	37	3	43121702	43121702	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43121702G>T	ENST00000344697.2	-	2	1567	c.1222C>A	c.(1222-1224)Ccc>Acc	p.P408T	GTDC2_ENST00000441964.1_Missense_Mutation_p.P408T	NM_032806.4	NP_116195.2																					TGATCCCAGGGCCGCTCAGGG	0.617000													11	36					5.50884e-06	6.28354e-06	1	1	0
PAK7	57144	broad.mit.edu	37	20	9525092	9525092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9525092G>A	ENST00000378429.3	-	9	2339	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PAK7_ENST00000353224.5_Missense_Mutation_p.P598L|PAK7_ENST00000378423.1_Missense_Mutation_p.P598L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	598	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCCTCTTCGGCACCTCTTT	0.448000													11	85					0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108913162	108913162	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108913162G>C	ENST00000552695.1	+	3	1522	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	429					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGGACACCCTGCTTTTTGCCA	0.557000													9	23					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16782322	16782322	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782322C>A	ENST00000337132.5	+	7	767	c.677C>A	c.(676-678)cCt>cAt	p.P226H	NECAP2_ENST00000457722.2_Missense_Mutation_p.P200H|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.P226H|NECAP2_ENST00000504551.2_Missense_Mutation_p.P165H	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	226					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGCTCCTGTACCCTGG	0.542000													4	30					0.000602214	0.000649039	1	1	0
TG	7038	broad.mit.edu	37	8	133935689	133935689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133935689C>T	ENST00000220616.4	+	22	4675	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1545	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D1545D(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTGTGGACGGCGAGGGGC	0.592000													23	42					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342090	101342090	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101342090C>G	ENST00000344327.3	-	9	2657	c.2233G>C	c.(2233-2235)Gca>Cca	p.A745P	TRPC6_ENST00000348423.4_Missense_Mutation_p.A629P|TRPC6_ENST00000360497.4_Missense_Mutation_p.A690P|TRPC6_ENST00000532133.1_Missense_Mutation_p.A667P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	745					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGCCCTTGCAAATTTCCAC	0.428000													9	55					0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749578	211749578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211749578G>T	ENST00000367001.4	-	2	805	c.676C>A	c.(676-678)Ctt>Att	p.L226I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	226					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTCTGACAAGATTTCCATTC	0.388000													27	44					3.73808e-20	4.90194e-20	1	1	0
LLGL1	3996	broad.mit.edu	37	17	18140194	18140194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18140194C>T	ENST00000316843.4	+	13	1648	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	518					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTGGCGTGCAGAAGGTTGC	0.612000													7	12					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898014	50898014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898014G>A	ENST00000380817.2	-	27	3756	c.3573C>T	c.(3571-3573)cgC>cgT	p.R1191R	SBF1_ENST00000390679.3_Silent_p.R1191R|SBF1_ENST00000348911.6_Silent_p.R1192R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1191	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGGGAAGCGGTTCTGGC	0.682000													11	18					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8988700	8988700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8988700G>A	ENST00000344836.4	-	29	3250	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	USP7_ENST00000381886.4_Nonsense_Mutation_p.R1002*|USP7_ENST00000535863.1_Nonsense_Mutation_p.R919*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1018					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCACTTCTCGAAAATGCTCG	0.592000													42	58					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488893	29488893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29488893C>A	ENST00000283351.4	-	7	1281	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D316Y|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D262Y	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	316					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTAGATGATCTGGGCCATCA	0.373000													8	42					0.000157383	0.00017284	1	1	0
GPR98	84059	broad.mit.edu	37	5	89988577	89988577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89988577C>T	ENST00000405460.2	+	32	7203	c.7107C>T	c.(7105-7107)tcC>tcT	p.S2369S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2369					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGAAGTTCCTGTGCTAATA	0.443000													3	11					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439660	145439660	+	Missense_Mutation	SNP	C	C	T	rs139582730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145439660C>T	ENST00000511217.1	+	8	1839	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SH3RF2_ENST00000359120.4_Missense_Mutation_p.A596V|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	596							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCACTCCGCGGCCAGCTCC	0.627000													29	31					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40825774	40825774	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40825774T>G	ENST00000295974.8	-	16	2445	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	APBB2_ENST00000543538.1_Missense_Mutation_p.M58L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.M58L|APBB2_ENST00000513140.1_Missense_Mutation_p.M584L|APBB2_ENST00000502841.1_Missense_Mutation_p.M58L|APBB2_ENST00000508593.1_Missense_Mutation_p.M607L|APBB2_ENST00000506352.1_Missense_Mutation_p.M585L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	606	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAAATATCCATTCCTGGGGAC	0.448000													14	23					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702396	20702396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20702396T>C	ENST00000307493.4	-	1	182	c.115A>G	c.(115-117)Aga>Gga	p.R39G	ACSM1_ENST00000520010.1_Missense_Mutation_p.R39G|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATTCCATCTTGGGGCTCCA	0.512000													15	182					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114999	186114999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186114999G>A	ENST00000271588.4	+	93	14781	c.14552G>A	c.(14551-14553)cGt>cAt	p.R4851H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4851H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4851	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGGTGGCCGTCCCTGTCCC	0.537000													23	27					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139280028	139280028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139280028G>A	ENST00000406824.1	-	7	1447	c.253C>T	c.(253-255)Cct>Tct	p.P85S	NMNAT3_ENST00000511444.1_3'UTR|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Missense_Mutation_p.P106S|NMNAT3_ENST00000296202.7_Missense_Mutation_p.P195S|NMNAT3_ENST00000406164.1_Missense_Mutation_p.P158S|NMNAT3_ENST00000339837.5_Missense_Mutation_p.P158S|NMNAT3_ENST00000507242.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	195					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCTGCACAGGCTCCTTGGCC	0.542000													28	33					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116838953	116838953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116838953C>A	ENST00000265132.3	-	2	447	c.185G>T	c.(184-186)aGg>aTg	p.R62M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	62					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CACTGTCATCCTGTCCATGAT	0.597000													17	33					1.2644e-06	1.46818e-06	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9453292	9453292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9453292G>A	ENST00000393883.2	+	6	1813	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	ZNF559_ENST00000587557.1_Missense_Mutation_p.A453T|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.A389T|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309T|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATGTGGAAAAGCCTTTATTAA	0.403000													30	51					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106978132	106978132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106978132G>T	ENST00000369066.3	+	6	3923	c.3436G>T	c.(3436-3438)Gaa>Taa	p.E1146*		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1146	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATACTGAAGAAATGCAGGG	0.328000													8	121					0.00621372	0.00652201	1	1	0
INVS	27130	broad.mit.edu	37	9	103054731	103054731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103054731G>A	ENST00000262457.2	+	14	2377	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.G635D	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	731					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGACAGCTGGCGATGAGCGG	0.577000													8	36					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63948219	63948219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:63948219C>T	ENST00000260118.6	-	2	622	c.220G>A	c.(220-222)Gta>Ata	p.V74I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	74	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATACCTTACTGGTACAACT	0.393000													13	54					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134424994	134424994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134424994A>G	ENST00000370766.3	-	6	3473	c.764T>C	c.(763-765)cTt>cCt	p.L255P	ZNF75D_ENST00000370764.1_Missense_Mutation_p.L160P|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTCTTCTCAAGAGGATTCAA	0.358000													53	94					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776283	144776283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144776283C>T	ENST00000532205.1	+	8	1598	c.699C>T	c.(697-699)tgC>tgT	p.C233C	ZNF707_ENST00000418203.2_Silent_p.C233C|ZNF707_ENST00000358656.4_Silent_p.C233C|ZNF707_ENST00000532158.1_Silent_p.C233C|ZNF707_ENST00000454097.1_Silent_p.C233C			Q96C28	ZN707_HUMAN	zinc finger protein 707	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCCCTTCTGCTGCGAGGCCT	0.662000													5	11					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239235	160239235	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160239235G>T	ENST00000392783.2	-	25	4335	c.3840C>A	c.(3838-3840)ccC>ccA	p.P1280P	BAZ2B_ENST00000392782.1_Silent_p.P1244P|BAZ2B_ENST00000343439.5_Silent_p.P1180P|BAZ2B_ENST00000355831.2_Silent_p.P1246P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGTGCCCAAGGGATGCTGCT	0.463000													4	42					2.56e-06	2.9446e-06	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73723542	73723542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73723542C>T	ENST00000200181.3	+	4	407	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ITGB4_ENST00000450894.3_Missense_Mutation_p.R74W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R74W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R74W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.R74W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	74					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCCAGCGGGAGAGCAT	0.652000													10	11					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976228	94976228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94976228C>T	ENST00000261226.4	-	2	296	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMCC3_ENST00000551457.1_Silent_p.P24P	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	55						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATGCCATCCGGGACATCAA	0.478000													45	65					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729552	9729552	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9729552C>T	ENST00000262441.5	+	1	685	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	58					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTCCTGCTGGTTTCCAT	0.488000													3	29					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87745020	87745020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87745020G>A	ENST00000273905.6	-	6	1102	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	319						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TTTTTTCCATGTTTGTTCTTC	0.398000													12	105					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178260	36178260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178260G>A	ENST00000357641.6	+	6	2387	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	BRPF3_ENST00000534694.1_Missense_Mutation_p.E712K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E712K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E712K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E712K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E712K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	712					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCACCTGCCCGAGTCACCCAA	0.652000													24	34					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14354843	14354843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14354843C>T	ENST00000571589.1	+	17	3014	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	MKL2_ENST00000574045.1_Missense_Mutation_p.P898S|MKL2_ENST00000318282.5_Missense_Mutation_p.P898S|MKL2_ENST00000341243.5_Missense_Mutation_p.P937S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	937					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCACAATGCCAGTGAATAC	0.458000													42	59					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12613679	12613679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12613679C>A	ENST00000170447.7	+	4	586	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MKRN2_ENST00000411987.1_Missense_Mutation_p.A107D|MKRN2_ENST00000448482.1_Missense_Mutation_p.A148D	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	150						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TACCTGGATGCCATCAGGAGT	0.622000													20	23					4.96729e-08	5.9048e-08	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97522193	97522193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97522193T>C	ENST00000375315.2	+	1	128	c.128T>C	c.(127-129)aTa>aCa	p.I43T	C9orf3_ENST00000277198.2_Missense_Mutation_p.I43T|C9orf3_ENST00000297979.5_Missense_Mutation_p.I43T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	43					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGGGACCATAGTGCTTTTC	0.443000													8	58					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34123219	34123219	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34123219C>A	ENST00000389232.4	+	86	11460	c.11390C>A	c.(11389-11391)tCt>tAt	p.S3797Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3792Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3797					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGATGAATCTGGACAGCAC	0.383000													16	23					1.3612e-06	1.57881e-06	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44513269	44513269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513269G>A	ENST00000459639.1	-	7	1471	c.447C>T	c.(445-447)ggC>ggT	p.G149G	U2AF1_ENST00000398137.1_Silent_p.G149G|U2AF1_ENST00000380276.2_Silent_p.G222G|U2AF1_ENST00000291552.4_Silent_p.G222G			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	222					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCTCCCGTccgccgccacctc	0.582000			Mis		"""CLL, MDS"""								14	15					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470315	10470315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470315G>A	ENST00000382483.3	-	4	1516	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	431					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGGACGTGCTGGGCCA	0.687000													9	39					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17624875	17624875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17624875G>A	ENST00000262077.2	-	20	4090	c.4091C>T	c.(4090-4092)aCa>aTa	p.T1364I	NUP153_ENST00000537253.1_Missense_Mutation_p.T1395I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1364					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTTGACACTGTCCCAAAAGT	0.507000													5	68					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697271	124697271	+	Silent	SNP	G	G	A	rs145403983	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124697271G>A	ENST00000481909.1	-	5	1277	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	351										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCTGACACTCGGTCTTATTTC	0.393000													56	93					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117555845	117555845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117555845G>T	ENST00000374045.4	-	2	327	c.214C>A	c.(214-216)Cta>Ata	p.L72I		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	72		Cleavage.			activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCCTTTTAGAGCCTATTGG	0.418000													13	89					9.05144e-12	1.1316e-11	1	1	0
IL12RB1	0	broad.mit.edu	37	19	18180427	18180427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18180427G>T	ENST00000600835.1	-	11	1421	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	IL12RB1_ENST00000430026.2_Missense_Mutation_p.P373H|IL12RB1_ENST00000593993.1_Missense_Mutation_p.P373H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	373	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGGCCCACAGGCTGCCATTC	0.622000													5	71					2.0095e-06	2.31757e-06	1	1	0
H6PD	9563	broad.mit.edu	37	1	9323955	9323955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9323955G>A	ENST00000377403.2	+	5	1705	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	H6PD_ENST00000602477.1_Missense_Mutation_p.G479D	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	468	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ATCTTCCATGGCCGGAAGAAT	0.602000													61	97					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120762744	120762744	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120762744G>T	ENST00000308366.4	-	3	350	c.315C>A	c.(313-315)acC>acA	p.T105T	PLA2G1B_ENST00000549767.1_Silent_p.T76T|PLA2G1B_ENST00000423423.3_Intron	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	105					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACTGCTACAGGTGATTGCCG	0.468000											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	82					0.00116845	0.00124821	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94048358	94048358	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048358C>A	ENST00000370244.1	-	9	1474	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	BCAR3_ENST00000370247.3_Missense_Mutation_p.D305Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.D396Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.D396Y|BCAR3_ENST00000539242.1_Missense_Mutation_p.D72Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	396					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTTGACTGTCTGATCCCCTC	0.637000													7	70					5.18039e-06	5.91835e-06	1	1	0
PFKFB2	5208	broad.mit.edu	37	1	207240872	207240872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207240872G>A	ENST00000367080.3	+	9	785	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PFKFB2_ENST00000367079.2_Missense_Mutation_p.V221M|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V123M|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V188M|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V35M	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	221	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGATAAACGTGGGCCAGCG	0.428000													9	80					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066262	91066262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066262C>A	ENST00000371826.3	+	2	718	c.549C>A	c.(547-549)taC>taA	p.Y183*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	183					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TAGCAAGCTACCGTCTGGACA	0.507000													13	31					0.00010058	0.000111121	1	1	0
MYH7	4625	broad.mit.edu	37	14	23884263	23884263	+	Missense_Mutation	SNP	C	C	T	rs143362532		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23884263C>T	ENST00000355349.3	-	37	5662	c.5500G>A	c.(5500-5502)Gca>Aca	p.A1834T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1834					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCGACTCTGCGTTGCGCTTC	0.647000													34	90					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733255	152733255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152733255G>T	ENST00000368773.1	+	2	1249	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	KPRP_ENST00000606109.1_Missense_Mutation_p.Q397H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	397	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACTGCAGCGATGTCCAC	0.602000													17	23					6.94344e-10	8.49476e-10	1	1	0
CENPO	79172	broad.mit.edu	37	2	25038367	25038367	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25038367C>A	ENST00000380834.2	+	5	761	c.334_splice	c.e5-1	p.G112_splice	CENPO_ENST00000473706.1_Splice_Site_p.G106_splice|CENPO_ENST00000260662.1_Splice_Site_p.G112_splice			Q9BU64	CENPO_HUMAN	centromere protein O	112					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCCTCAGGCCTCAGTGGTA	0.473000													46	58					2.81731e-22	3.71784e-22	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121433774	121433774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121433774C>T	ENST00000393667.3	-	10	1448	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	GOLGB1_ENST00000340645.5_Silent_p.L441L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	441					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGCAAGGGCAGTCTATTTA	0.323000													39	71					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584573	42584573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42584573C>A	ENST00000600245.1	+	2	2470	c.1815C>A	c.(1813-1815)taC>taA	p.Y605*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y605*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y695*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGGTGAATACCCCTACAAGT	0.647000													18	30					3.41278e-10	4.19267e-10	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116196050	116196050	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116196050T>C	ENST00000533213.2	-	23	2427	c.2126A>G	c.(2125-2127)aAc>aGc	p.N709S	ABLIM1_ENST00000369266.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000392952.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000277895.5_Missense_Mutation_p.N769S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.N709S|ABLIM1_ENST00000369253.2_Missense_Mutation_p.N392S			O14639	ABLM1_HUMAN	actin binding LIM protein 1	769					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCATGTCGTTGCGTCTCCA	0.453000													7	88					0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75401213	75401213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75401213G>A	ENST00000394905.2	-	3	439	c.182C>T	c.(181-183)gCt>gTt	p.A61V	CCL26_ENST00000005180.4_Missense_Mutation_p.A61V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	61					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACATCACAGCCCGCTGGGA	0.562000													7	83					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63017291	63017291	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63017291T>C	ENST00000561311.1	+	26	3473	c.3243T>C	c.(3241-3243)ctT>ctC	p.L1081L	TLN2_ENST00000306829.6_Silent_p.L1081L			Q9Y4G6	TLN2_HUMAN	talin 2	1081	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCCACTTCCAGGGGAAA	0.493000													14	22					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233134179C>T	ENST00000258229.8	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1870						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582000													18	25					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79657341	79657341	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79657341C>A	ENST00000275034.4	-	36	4372	c.4206_splice	c.e36+1	p.R1402_splice	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1402	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTATATACCCTTGATCTTTT	0.303000													15	29					1.45105e-14	1.85325e-14	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35339032	35339032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35339032G>A	ENST00000278379.3	-	2	331	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.R17*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.R8*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TCGTGCATTCGCACTTCCACC	0.562000													19	182					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409762	7409762	+	Silent	SNP	C	C	T	rs34359069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7409762C>T	ENST00000361972.4	-	4	375	c.285G>A	c.(283-285)acG>acA	p.T95T	SFMBT2_ENST00000379711.2_Silent_p.T95T|SFMBT2_ENST00000397167.1_Silent_p.T95T|SFMBT2_ENST00000397160.3_Silent_p.T95T|SFMBT2_ENST00000379713.3_Silent_p.T95T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	95					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGTAATGATCGTGGCCACCC	0.542000													18	22					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97771825	97771825	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:97771825C>T	ENST00000370192.3	-	17	2187	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTAACCCAGCGGCAGATGTT	0.428000													54	194					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158794	77158794	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77158794G>T	ENST00000372524.4	-	2	2140	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.L552M	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TAGCCCGACAGCAGTTTGTCT	0.687000													15	9					3.32936e-07	3.90007e-07	1	1	0
MUC4	4585	broad.mit.edu	37	3	195517305	195517305	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195517305A>G	ENST00000463781.3	-	2	1605	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S382S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	387					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TATTGCTGACACTGGAAGGGG	0.453000													55	87					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234878920C>T	ENST00000324695.4	+	17	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547000													125	149					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25481278	25481278	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25481278T>G	ENST00000453082.2	+	0	1934				SNORD115-36_ENST00000365629.1_RNA	NR_003343.1																						AGGTGATGACTTAAAAATCAT	0.478000													8	279					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112198487	112198487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112198487T>C	ENST00000334529.5	-	2	420	c.218A>G	c.(217-219)aAg>aGg	p.K73R	BTLA_ENST00000383680.4_Missense_Mutation_p.K73R	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	73	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCATTGAGCTTGCACCAAGT	0.388000													9	110					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835906	139835906	+	Silent	SNP	G	G	A	rs112814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139835906G>A	ENST00000325285.3	-	8	1333	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	418							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCTGTTCACGTACAGGTACC	0.682000													9	21					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743924	98743924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98743924A>T	ENST00000286067.2	+	1	2884	c.2777A>T	c.(2776-2778)aAa>aTa	p.K926I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	926										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGCGCTTGAAAAAGCACTTG	0.473000													9	107					0	0	1	0	0
TRBV6-1	0	broad.mit.edu	37	7	142028398	142028398	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142028398G>T	ENST00000390353.2	+	0	189																											AGTGTGCCCAGGATATGAACC	0.498000													10	155					4.68919e-08	5.58064e-08	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162402263	162402263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162402263G>A	ENST00000306100.5	-	13	1953	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FSTL5_ENST00000536695.1_Missense_Mutation_p.A505V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A496V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A505V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	506						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACATTAACAGCTGATGCCCA	0.383000													51	94					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371422	131371422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131371422G>T	ENST00000358161.5	+	36	4730	c.4617G>T	c.(4615-4617)caG>caT	p.Q1539H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1539H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1539H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1539					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGCCCAGATGATTGAGA	0.478000													4	60					0.217242	0.218821	1	1	0
MTMR7	9108	broad.mit.edu	37	8	17170828	17170828	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17170828T>C	ENST00000180173.5	-	8	982	c.948A>G	c.(946-948)atA>atG	p.I316M	MTMR7_ENST00000521857.1_Missense_Mutation_p.I316M	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	316	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCATCCATTATGGCTTTAA	0.418000													7	53					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334843	33334843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33334843G>A	ENST00000023064.4	-	10	1183	c.992C>T	c.(991-993)gCg>gTg	p.A331V	SLC7A9_ENST00000587772.1_Missense_Mutation_p.A331V|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A331V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	331			A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCGGCCCGCCACGTAAAT	0.572000													13	7					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611261	140611261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611261G>A	ENST00000460843.1	+	3	296	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R59Q|EHMT1_ENST00000462484.1_Missense_Mutation_p.R90Q	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	90					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACTAACTCGGATAGCGGAA	0.527000													28	52					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11603079	11603079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11603079A>G	ENST00000262442.3	+	23	4972	c.4904A>G	c.(4903-4905)aAc>aGc	p.N1635S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N1635S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1635	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTGACAACATGGCCAAG	0.458000													20	31					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23654310	23654310	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23654310T>C	ENST00000300087.2	+	2	234	c.83T>C	c.(82-84)tTg>tCg	p.L28S	DCTN5_ENST00000563998.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568589.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568272.1_Missense_Mutation_p.L28S	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	28						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCAGTGTTGTGTGGAAGC	0.473000													8	67					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79170554	79170554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79170554G>A	ENST00000269392.4	-	15	2102	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q619*|AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q616*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q616*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	619					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTCCCTCTGCCGCTGCAGC	0.701000													3	4					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8418133	8418133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8418133G>A	ENST00000356406.5	-	2	193	c.116C>T	c.(115-117)aCg>aTg	p.T39M	ACOX3_ENST00000503233.1_Missense_Mutation_p.T39M|ACOX3_ENST00000413009.2_Missense_Mutation_p.T39M	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	39					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTCCCCTTCCGTGAACAGCGC	0.587000													22	61					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127674749	127674749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000508989.1_Silent_p.I1083I|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.I1116I			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458000													28	36					0	0	1	0	0
GTF2A2	2958	broad.mit.edu	37	15	59944473	59944473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59944473C>T	ENST00000396060.2	-	2	185	c.4G>A	c.(4-6)Gca>Aca	p.A2T	AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396063.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396064.3_Missense_Mutation_p.A2T|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396061.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000484743.1_Missense_Mutation_p.A2T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	2					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						AACTGATATGCCATGGCTTAG	0.318000													6	123					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90972822	90972822	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90972822C>T	ENST00000268182.5	+	4	438	c.312_splice	c.e4-1	p.A105_splice	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	105	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTTCTAGGCGACTGGCCTC	0.343000													18	40					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622000													4	21					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567216	5567216	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5567216C>T	ENST00000315238.1	+	1	293	c.168C>T	c.(166-168)atC>atT	p.I56I	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	56	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						TGAGTGAGATCGACCGGGACG	0.657000													6	15					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78783036	78783036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78783036G>A	ENST00000258886.8	+	18	2406	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	753							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.D753N(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGTCACAACAGATCATATATC	0.403000													71	130					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23547109G>A	ENST00000297071.4	-	5	787	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R90W|TRA2A_ENST00000392502.4_Missense_Mutation_p.R90W	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TAATCCACCCGAATTCTTCTA	0.423000													50	128					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11348503	11348503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11348503C>A	ENST00000315872.6	-	19	2722	c.2274G>T	c.(2272-2274)gaG>gaT	p.E758D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E515D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	758	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCTTTTCTCAGCTTCTA	0.343000													7	22					0.000157383	0.00017284	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1053494	1053494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1053494G>A	ENST00000264930.5	-	23	3173	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1044					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTTTGGGAGGACCTGGCATG	0.602000													11	24					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179515	59179515	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179515G>T	ENST00000380516.2	-	18	2687	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	SLTM_ENST00000536328.1_Missense_Mutation_p.P436H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGTCTAGGATGAGTGAT	0.502000													10	67					7.48243e-07	8.70085e-07	1	1	0
PCDHA1	0	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000394633.3_Silent_p.A454A|PCDHA1_ENST00000378133.3_Silent_p.A454A	NM_018900.2	NP_061723.1												p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677000													31	46					0	0	1	0	0
FBXO17	115290	broad.mit.edu	37	19	39433282	39433282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433282T>C	ENST00000292852.4	-	6	1144	c.803A>G	c.(802-804)cAc>cGc	p.H268R	FBXO17_ENST00000595329.1_Missense_Mutation_p.H268R|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACACTGGAGTGGGTCACAAG	0.577000													4	63					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71114241	71114241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71114241C>T	ENST00000396396.1	+	10	1807	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	526					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGAGAGCTACGAGAGGGATC	0.577000													14	26					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900704G>A	ENST00000380913.3	+	6	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657000													19	29					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143610C>T	ENST00000306560.1	+	2	468	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_ENST00000219322.3_Silent_p.C104C|HAS3_ENST00000569188.1_Silent_p.C104C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662000													18	30					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96241408	96241408	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241408G>A	ENST00000347108.3	-	17	2459	c.2027_splice	c.e17+1	p.T676_splice	DZIP1_ENST00000376829.2_Splice_Site_p.T676_splice|DZIP1_ENST00000361156.3_Splice_Site_p.T657_splice|DZIP1_ENST00000361396.2_Splice_Site_p.T657_splice			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	676					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303000													11	36					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80292424	80292424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80292424G>A	ENST00000435819.1	+	9	1232	c.548G>A	c.(547-549)aGg>aAg	p.R183K	CD36_ENST00000538969.1_Intron|CD36_ENST00000394788.3_Missense_Mutation_p.R183K|CD36_ENST00000433696.2_Missense_Mutation_p.R183K|CD36_ENST00000534394.1_Missense_Mutation_p.R107K|CD36_ENST00000447544.2_Missense_Mutation_p.R183K|CD36_ENST00000544133.1_Missense_Mutation_p.R183K|CD36_ENST00000432207.1_Missense_Mutation_p.R183K|CD36_ENST00000309881.7_Missense_Mutation_p.R183K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	183					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGGCTATAGGGATCCATTT	0.338000													35	112					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237064	96237064	+	Missense_Mutation	SNP	G	G	A	rs149105659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96237064G>A	ENST00000347108.3	-	20	2882	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	DZIP1_ENST00000376829.2_Missense_Mutation_p.A817V|DZIP1_ENST00000361156.3_Missense_Mutation_p.A798V|DZIP1_ENST00000361396.2_Missense_Mutation_p.A798V			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	817					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCATTTTTCGCAGGTGGAGG	0.458000													39	44					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52183122	52183122	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52183122T>C	ENST00000354534.5	+	24	4517	c.4339T>C	c.(4339-4341)Ttc>Ctc	p.F1447L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1406L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1447					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTTGTCATCTTCATCATCTT	0.403000													24	28					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122496626	122496626	+	Silent	SNP	C	C	T	rs149404291		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122496626C>T	ENST00000383659.1	-	2	314	c.192G>A	c.(190-192)tcG>tcA	p.S64S	HSPBAP1_ENST00000306103.2_Silent_p.S64S|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	64			S -> A (in dbSNP:rs16833517).			cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGACCTGCGAAAGGTATT	0.413000													19	28					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92126080	92126080	+	Silent	SNP	T	T	C	rs61750423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92126080T>C	ENST00000248633.4	-	17	2825	c.2730A>G	c.(2728-2730)ttA>ttG	p.L910L	PEX1_ENST00000428214.1_Silent_p.L853L|PEX1_ENST00000438045.1_Silent_p.L588L|PEX1_ENST00000541751.1_3'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	910					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTGCTGAGTAACTCTGGCC	0.303000													98	70					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986141	30986141	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30986141A>G	ENST00000318217.5	-	17	2641	c.2337T>C	c.(2335-2337)atT>atC	p.I779I	MYO1D_ENST00000579584.1_Silent_p.I779I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.I691I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	779						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACCTATTGAAAATCGTCTGCA	0.498000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	44					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658362	43658362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43658362C>T	ENST00000396976.2	-	3	1302	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A389T|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGGGTCGCCTCTAGATCC	0.552000													30	59					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130259537	130259537	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130259537C>T	ENST00000323301.4	+	23	2440	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	LRSAM1_ENST00000373324.4_Silent_p.G585G|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.G612G|LRSAM1_ENST00000300417.6_Silent_p.G612G	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	612	SAM.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGGTGGGCGTCTCAGAAG	0.622000													14	28					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59420449	59420449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59420449G>A	ENST00000300146.9	-	10	1248	c.1164C>T	c.(1162-1164)caC>caT	p.H388H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	388	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACTGCTCCGGTGACTTCCTC	0.438000													86	88					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456416	102456416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102456416G>T	ENST00000413150.2	+	10	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K303N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K283N|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000302217.5_Intron	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	303					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGCTTAAGGATCATATAG	0.388000													27	43					1.7367e-05	1.95915e-05	1	1	0
SETMAR	6419	broad.mit.edu	37	3	4355208	4355208	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355208T>G	ENST00000358065.4	+	2	850	c.783T>G	c.(781-783)gaT>gaG	p.D261E	SETMAR_ENST00000430981.1_Missense_Mutation_p.D261E|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	248	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCTCTTATGATTATTCAGGAA	0.383000								Chromatin Structure					14	38					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468000													45	69					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222532	6222532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6222532C>T	ENST00000252674.7	-	6	873	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	237					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTGGGCAGCCGGCCCTCGCC	0.642000			T	MLL	AL								5	23					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12840713	12840713	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12840713C>A	ENST00000591497.1	-	2	325	c.73_splice	c.e2+1	p.D25_splice	PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591115.1_Intron			P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	0	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAGATTACCTATTTCCTGC	0.423000													7	32					0.27861	0.279982	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376485	75376485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75376485C>T	ENST00000555647.1	-	8	1318	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G344E|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G313E|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G344E			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	344	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCAAGTGAGCCCCCGAGGGGG	0.692000													5	12					0	0	1	0	0
CCDC111	0	broad.mit.edu	37	4	185615881	185615881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185615881G>A	ENST00000314970.6	+	14	2064	c.1631G>A	c.(1630-1632)aGt>aAt	p.S544N	MLF1IP_ENST00000281453.5_3'UTR|CCDC111_ENST00000510864.1_3'UTR|CCDC111_ENST00000515774.1_Missense_Mutation_p.S415N|CCDC111_ENST00000503752.1_Missense_Mutation_p.S544N|CCDC111_ENST00000512834.1_Missense_Mutation_p.S543N	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		544					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		AGTTATAACAGTGAAGTGGAT	0.363000													12	27					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256112C>T	ENST00000379166.2	-	11	3612	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	KIF24_ENST00000379174.3_Missense_Mutation_p.E1031K|KIF24_ENST00000345050.2_Missense_Mutation_p.E1031K|KIF24_ENST00000402558.2_Missense_Mutation_p.E1165K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582000													4	49					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789402	76789402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789402C>A	ENST00000287239.4	+	18	5309	c.4820C>A	c.(4819-4821)cCt>cAt	p.P1607H	KAT6B_ENST00000372724.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372711.1_Missense_Mutation_p.P1424H|KAT6B_ENST00000372725.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372714.1_Missense_Mutation_p.P1315H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1607	Interaction with RUNX1 and RUNX2.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACTCCCATCCTGGCCAGTCC	0.552000													12	33					0.00010058	0.000111121	1	1	0
GDF9	2661	broad.mit.edu	37	5	132198025	132198025	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132198025C>T	ENST00000378673.2	-	3	1487	c.621G>A	c.(619-621)aaG>aaA	p.K207K	GDF9_ENST00000296875.2_Silent_p.K207K			O60383	GDF9_HUMAN	growth differentiation factor 9	207					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTGTTTCTTTCCAAATT	0.398000													43	87					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591022	125591022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125591022C>T	ENST00000504087.1	-	4	4447	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S958N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1137	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTACCAGAGCTATTTGATTT	0.423000													58	116					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73042966	73042966	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042966T>C	ENST00000604411.1	+	0	30927				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGTTGTTACATCTTGAACCAT	0.323000													4	36					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100537368	100537368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100537368A>G	ENST00000372907.3	-	5	622	c.611T>C	c.(610-612)aTa>aCa	p.I204T	TAF7L_ENST00000356784.1_Missense_Mutation_p.I118T|TAF7L_ENST00000372905.2_Missense_Mutation_p.I118T|TAF7L_ENST00000324762.6_Missense_Mutation_p.I118T	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	204					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCCTGACTATATTAGGATC	0.423000													6	77					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093214	79093214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093214C>T	ENST00000326724.4	-	13	4074	c.4050G>A	c.(4048-4050)acG>acA	p.T1350T	AATK_ENST00000417379.1_Silent_p.T1247T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1350						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACACGTGCGTGATGGAGA	0.736000													5	13					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45132871	45132871	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45132871A>T	ENST00000457685.2	-	5	1432	c.109T>A	c.(109-111)Tca>Aca	p.S37T	ZNF334_ENST00000593880.1_Missense_Mutation_p.S98T|ZNF334_ENST00000347606.4_Missense_Mutation_p.S75T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCTGATTTGAGAATTCCTCC	0.413000													5	57					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264576	32264576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32264576C>T	ENST00000343380.5	-	7	1415	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	426	Retinoblastoma protein RB1 binding (Potential).|Transactivation.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTCACAGTCGAAGAGGTCT	0.627000													5	6					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668765	53668765	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668765G>T	ENST00000600412.1	-	2	898	c.783C>A	c.(781-783)gcC>gcA	p.A261A	ZNF665_ENST00000396424.3_Silent_p.A326A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACACTAAAGGCTTTGCCAC	0.433000													8	99					0.000157383	0.00017284	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145158778	145158778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145158778G>A	ENST00000558170.2	-	7	2088	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R302*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R278*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R302*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGAATTCGCAGGTGTTCT	0.408000													32	58					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258575	19258575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19258575G>A	ENST00000602424.2	-	6	1051	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P126S|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P109S|MEF2B_ENST00000162023.5_Missense_Mutation_p.P109S|MEF2B_ENST00000410050.1_Missense_Mutation_p.P109S|MEF2B_ENST00000424583.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409447.2_Missense_Mutation_p.P109S|MEF2B_ENST00000409224.1_Missense_Mutation_p.P112S	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TTCTCTCCTGGCTCCTCAGGC	0.627000													20	24					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58001098	58001098	+	Silent	SNP	G	G	A	rs146680768		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58001098G>A	ENST00000299638.3	+	2	514	c.300G>A	c.(298-300)caG>caA	p.Q100Q	POLR2M_ENST00000380563.2_Silent_p.Q100Q|GCOM1_ENST00000587652.1_Silent_p.Q497Q|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000484300.1_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000464308.1_3'UTR	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		ATAAGGCCCAGAATTCTGACC	0.403000													46	62					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24727059	24727059	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24727059C>T	ENST00000396475.2	+	13	1748	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	MPP6_ENST00000409761.1_Silent_p.D371D|MPP6_ENST00000222644.4_Silent_p.D483D	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	483	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCAACAGGACTCTGACTTGA	0.318000													80	53					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998186	119998186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998186G>A	ENST00000341846.5	-	3	1413	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM29_ENST00000529044.1_Missense_Mutation_p.A70V|TRIM29_ENST00000541857.1_Missense_Mutation_p.A64V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	331					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTCCAGCGCAGCCCTCAC	0.592000													73	59					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493460	28493460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28493460C>T	ENST00000569430.1	-	15	1841	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CLN3_ENST00000354630.5_Missense_Mutation_p.R324H|CLN3_ENST00000355477.5_Missense_Mutation_p.R293H|CLN3_ENST00000357806.7_Missense_Mutation_p.R242H|CLN3_ENST00000357076.5_Missense_Mutation_p.R231H|CLN3_ENST00000357857.9_Missense_Mutation_p.R287H|CLN3_ENST00000360019.2_Missense_Mutation_p.R341H|CLN3_ENST00000333496.9_Missense_Mutation_p.R317H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R324H|CLN3_ENST00000535392.1_Missense_Mutation_p.R263H|CLN3_ENST00000359984.7_Missense_Mutation_p.R341H|CLN3_ENST00000568224.1_Missense_Mutation_p.R263H|CLN3_ENST00000395653.4_Missense_Mutation_p.R241H			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	341					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAAACGGATGCGACAGCAGCG	0.637000													12	11					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493000													9	234					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127245118	127245118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127245118C>A	ENST00000373588.4	-	7	1501	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	435	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTACAGGTACTCCTTGGCCT	0.627000													5	9					0.0215528	0.0221649	1	1	0
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100677590C>T	ENST00000306151.4	+	3	2957	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	965	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCATCTCCTACAACTGC	0.522000													211	221					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551155	25551155	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25551155G>T	ENST00000329474.6	+	27	2714	c.2346G>T	c.(2344-2346)atG>atT	p.M782I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	782					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGAGTCCATGGTTGATGCTG	0.458000													36	76					5.43694e-19	7.10666e-19	1	1	0
TNR	7143	broad.mit.edu	37	1	175372720	175372720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175372720G>T	ENST00000367674.1	-	4	1240	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TNR_ENST00000263525.2_Missense_Mutation_p.H178N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	178	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTTGCCGTGGCCACTGCAG	0.562000													48	80					1.72184e-34	2.31481e-34	1	1	0
MSLN	10232	broad.mit.edu	37	16	812739	812739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:812739G>T	ENST00000566549.1	+	2	476	c.59G>T	c.(58-60)aGc>aTc	p.S20I	MSLN_ENST00000545450.2_Missense_Mutation_p.S20I|MSLN_ENST00000563941.1_Missense_Mutation_p.S20I|MSLN_ENST00000382862.3_Missense_Mutation_p.S20I			Q13421	MSLN_HUMAN	mesothelin	20					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCGGCAGCCTCCTGTTC	0.687000													47	72					1.67211e-32	2.24389e-32	1	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891730C>T	ENST00000317658.3	+	1	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388000													7	69					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45374854	45374854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45374854C>A	ENST00000402690.2	-	8	1383	c.989G>T	c.(988-990)aGg>aTg	p.R330M	SMAD2_ENST00000356825.4_Missense_Mutation_p.R300M|SMAD2_ENST00000586040.1_Missense_Mutation_p.R300M|SMAD2_ENST00000262160.6_Missense_Mutation_p.R330M|SMAD2_ENST00000591214.1_Missense_Mutation_p.R300M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	330	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCTATATGCCTTCTTGTCAT	0.398000													8	82					0.335167	0.336617	1	1	0
CERS6	253782	broad.mit.edu	37	2	169551472	169551472	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169551472C>T	ENST00000305747.6	+	6	1107	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	CERS6_ENST00000392687.4_Missense_Mutation_p.L174F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	174	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTTCAGCCACTCACAACTGA	0.388000													6	103					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83828938	83828938	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83828938A>G	ENST00000302236.5	+	4	632	c.580_splice	c.e4-1	p.D194_splice		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	194							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTTAACAGATTTTAAGTGG	0.308000													10	26					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753881	161753881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161753881G>A	ENST00000367942.3	+	4	416	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	117	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACTCAGCATGTTCCTGTGAG	0.388000													62	47					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20944542	20944542	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20944542G>T	ENST00000361505.5	+	6	798		c.e6-1		RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase						immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CTCACTATCAGGCATGAGTAC	0.408000													4	82					0.00024832	0.0002712	1	1	0
BFAR	51283	broad.mit.edu	37	16	14743744	14743744	+	Silent	SNP	G	G	A	rs142851831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14743744G>A	ENST00000261658.2	+	4	829	c.552G>A	c.(550-552)gcG>gcA	p.A184A	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Silent_p.A56A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	184	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AATGGACGGCGGAAGAAGTTG	0.537000													23	31					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998291	27998291	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998291A>G	ENST00000441525.1	-	1	1275	c.1161T>C	c.(1159-1161)tgT>tgC	p.C387C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	387										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGGGAAATCACAATAAACCA	0.413000													8	76					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113233177	113233177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113233177G>T	ENST00000393020.1	+	19	2074	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E557*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E557*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E563*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	557							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AATTGTTGAGGAGGCCTTGCG	0.418000													20	52					1.90627e-21	2.509e-21	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32613827	32613827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32613827G>T	ENST00000421745.2	+	4	789	c.655G>T	c.(655-657)Gtt>Ttt	p.V219F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	219					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGCCACAGTTACATTTCA	0.358000													7	25					8.12818e-05	8.99451e-05	1	1	0
ZNF177	7730	broad.mit.edu	37	19	9492206	9492206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9492206A>G	ENST00000541595.2	+	12	1348	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	ZNF177_ENST00000434737.2_Missense_Mutation_p.Q400R|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.Q240R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q240R|ZNF177_ENST00000589262.1_Missense_Mutation_p.Q400R	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	240					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGTGTAACCAGTGTGGAAAG	0.458000													11	136					0	0	1	0	0
MGME1	92667	broad.mit.edu	37	20	17970728	17970728	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17970728T>C	ENST00000377704.4	+	3	744	c.658T>C	c.(658-660)Tca>Cca	p.S220P	MGME1_ENST00000377709.1_Silent_p.I257I|MGME1_ENST00000377710.5_Silent_p.I337I|MGME1_ENST00000467391.1_3'UTR					mitochondrial genome maintenance exonuclease 1																		ACCAGAATATTCAGAAACCAG	0.418000													5	40					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48741014	48741014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48741014G>A	ENST00000448928.3	-	3	352	c.297C>T	c.(295-297)ggC>ggT	p.G99G	ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000301042.3_Intron|ZNF641_ENST00000547026.1_Intron	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN	zinc finger protein 641	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CACAGGAGACGCCAAGGGAAG	0.527000													15	22					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752923	14752923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14752923C>T	ENST00000358984.4	+	3	602	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T141M	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	141										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATGGCAACACGGCTCTCCAT	0.428000													5	5					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55168311	55168311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55168311C>A	ENST00000414150.2	+	21	3735	c.3457C>A	c.(3457-3459)Ctg>Atg	p.L1153M	MROH7_ENST00000454855.2_Missense_Mutation_p.L671M|MROH7_ENST00000409996.1_Missense_Mutation_p.L721M|MROH7_ENST00000421030.2_Missense_Mutation_p.L1153M					maestro heat-like repeat family member 7																		TGTGAAGACCCTGTTACGCTG	0.448000													5	58					0.000602214	0.000649039	1	1	0
THTPA	0	broad.mit.edu	37	14	24026216	24026216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026216G>A	ENST00000288014.6	+	1	986	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	THTPA_ENST00000404535.3_Missense_Mutation_p.A84T|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.A84T|THTPA_ENST00000554970.1_Missense_Mutation_p.A84T|THTPA_ENST00000554789.1_Missense_Mutation_p.A84T			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	84					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GGAACTCACAGCGGAACCTAC	0.602000													19	37					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842974	4842974	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4842974G>T	ENST00000322110.5	+	1	424	c.359G>T	c.(358-360)gGa>gTa	p.G120V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTACACGGATTTACTTTC	0.468000													12	147					7.03913e-09	8.47891e-09	1	1	0
SLC22A8	9376	broad.mit.edu	37	11	62768254	62768254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62768254G>A	ENST00000336232.2	-	3	510	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC22A8_ENST00000545207.1_Silent_p.A34A|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.A125A|SLC22A8_ENST00000535878.1_Silent_p.A2A|SLC22A8_ENST00000311438.8_Silent_p.A125A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	125					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGATAGACTGGGCCATCTCCT	0.542000													13	26					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48432234	48432234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48432234G>A	ENST00000017003.2	+	4	873	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	XYLT2_ENST00000507602.1_Missense_Mutation_p.R275Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	275					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TACCTGCACCGGGAGGTGGTG	0.632000													4	69					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775527	70775527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775527A>C	ENST00000361983.4	+	7	1323	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	407					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAGGCAAAAGAGTTCTTTC	0.403000													11	142					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089042	4089042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4089042C>A	ENST00000404826.2	+	18	2804	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SDK1_ENST00000389531.3_Missense_Mutation_p.L889M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	889	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTCAGTTCCTGTGGAACCC	0.577000													4	12					0.248553	0.25002	1	1	0
ANG	283	broad.mit.edu	37	14	21161892	21161892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21161892C>T	ENST00000336811.6	+	2	769	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R57W|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	57					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGAGGAGACGGGGCCTGAC	0.507000													12	40					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406218	110406218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110406218G>T	ENST00000519681.1	+	10	1049	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	PAK3_ENST00000372010.1_Nonsense_Mutation_p.E197*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*|PAK3_ENST00000372007.4_Nonsense_Mutation_p.E182*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408000										TSP Lung(19;0.15)			10	96					4.68919e-08	5.58064e-08	1	1	0
LRPAP1	4043	broad.mit.edu	37	4	3526640	3526640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3526640G>T	ENST00000500728.2	-	2	489	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	115					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GTACCATTGAGGTTGCGTATG	0.468000													6	283					0.000157383	0.00017284	1	1	0
DDR1	780	broad.mit.edu	37	6	30860315	30860315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30860315C>T	ENST00000324771.8	+	10	1643	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DDR1_ENST00000361741.4_Silent_p.I96I|DDR1_ENST00000508312.1_Silent_p.I383I|DDR1_ENST00000376569.3_Silent_p.I365I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.I365I|DDR1_ENST00000376568.3_Silent_p.I365I|DDR1_ENST00000376575.3_Silent_p.I365I|DDR1_ENST00000376567.2_Silent_p.I365I|DDR1_ENST00000454612.2_Silent_p.I365I|DDR1_ENST00000452441.1_Silent_p.I365I|DDR1_ENST00000513240.1_Silent_p.I365I|DDR1_ENST00000418800.2_Silent_p.I365I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	365					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTCCTTCATCTCTGGTAAGC	0.537000													27	42					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468000													31	40					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349265	70349265	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349265C>A	ENST00000333646.6	+	26	3876	c.3677C>A	c.(3676-3678)gCt>gAt	p.A1226D	MED12_ENST00000374102.1_Missense_Mutation_p.A1226D|MED12_ENST00000374080.3_Missense_Mutation_p.A1226D	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1226					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCTCAAGGCTGTGTTTGTA	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	16					4.35082e-09	5.25983e-09	1	1	0
HOXD12	3238	broad.mit.edu	37	2	176964817	176964817	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176964817G>A	ENST00000406506.2	+	1	360	c.288G>A	c.(286-288)gaG>gaA	p.E96E	HOXD12_ENST00000404162.2_Silent_p.E96E			P35452	HXD12_HUMAN	homeobox D12	96						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GACCCGAAGAGCAGGCTAAGT	0.706000													4	7					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272857	47272857	+	Missense_Mutation	SNP	G	G	A	rs138071941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272857G>A	ENST00000377073.3	+	4	1471	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	462					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAACATCAGCGAATTCACACA	0.458000													23	25					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78085806	78085806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78085806C>T	ENST00000302262.3	+	12	1880	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	GAA_ENST00000390015.3_Missense_Mutation_p.A554V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	554					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTCCAGGCGGCCACCATC	0.667000													10	20					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389979	27389979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27389979G>A	ENST00000379214.4	-	18	2734	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	LGR4_ENST00000389858.4_Missense_Mutation_p.A740V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	764						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAAAAAAACGCCACAGGGCA	0.403000													59	67					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73563013	73563013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73563013C>A	ENST00000224721.6	+	54	7728	c.7723C>A	c.(7723-7725)Cca>Aca	p.P2575T	CDH23_ENST00000398788.3_Missense_Mutation_p.P330T|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2570	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACAGCGGCCACTGCAGTC	0.607000													7	8					0.00307968	0.00325696	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1256408	1256408	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1256408C>T	ENST00000447027.1	+	22	2791	c.2733C>T	c.(2731-2733)ggC>ggT	p.G911G	MUC5B_ENST00000529681.1_Silent_p.G908G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	908	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTTGATGGCGATCGCTACA	0.667000													4	68					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135616830	135616830	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135616830G>T	ENST00000356140.5	+	3	238		c.e3-1		ACMSD_ENST00000392928.1_Splice_Site|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Splice_Site	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCTGCCCCAGGGAGAAGCAA	0.403000													13	16					5.50884e-06	6.28354e-06	1	1	0
PSRC1	84722	broad.mit.edu	37	1	109824315	109824315	+	Missense_Mutation	SNP	G	G	A	rs116061288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109824315G>A	ENST00000438534.2	-	4	583	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	PSRC1_ENST00000369903.2_Missense_Mutation_p.R149W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R149W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R149W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	149	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCATTACTCCGGAGTCGAGGC	0.577000													27	109					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202343240	202343240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202343240G>A	ENST00000194530.3	+	10	1351	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R329Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	329	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AATAGTGACCGATTACACACA	0.418000													11	31					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312551	49312551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49312551G>T	ENST00000266984.5	+	6	1118	c.891G>T	c.(889-891)aaG>aaT	p.K297N	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K297N			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	297										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GTAATGACAAGGAATTGGTCC	0.458000													11	74					3.03607e-14	3.87122e-14	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17322804	17322804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322804G>A	ENST00000594824.1	+	40	6306	c.6159G>A	c.(6157-6159)acG>acA	p.T2053T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2053	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTTCGTAACGGTCAGAGTGA	0.736000													5	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179483382	179483382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483382T>C	ENST00000589042.1	-	251	47119	c.46895A>G	c.(46894-46896)aAa>aGa	p.K15632R	TTN_ENST00000460472.2_Missense_Mutation_p.K6567R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13064R|TTN_ENST00000359218.5_Missense_Mutation_p.K6692R|TTN_ENST00000342175.6_Missense_Mutation_p.K6759R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K13991R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13991	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTCCCTTTGTCTCCTTT	0.348000													10	103					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197559185	197559185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197559185G>A	ENST00000438796.2	+	8	1143	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	LRCH3_ENST00000441090.2_Missense_Mutation_p.G241R|LRCH3_ENST00000414675.2_Missense_Mutation_p.G367R|LRCH3_ENST00000425562.2_Missense_Mutation_p.G367R|LRCH3_ENST00000334859.4_Missense_Mutation_p.G367R|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	367						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAAACGGCGGAGGTAAACA	0.408000													3	38					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752494	151752494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151752494G>A	ENST00000368822.1	-	4	987	c.354C>T	c.(352-354)atC>atT	p.I118I	TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000458431.2_Silent_p.I118I|TDRKH_ENST00000368824.3_Silent_p.I118I|TDRKH_ENST00000368823.1_Silent_p.I114I|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Silent_p.I118I			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	118							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGTCAGGATCTGATGGA	0.498000													54	63					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636358	44636358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44636358A>G	ENST00000322734.2	+	3	1006	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAGTGTGGAAAAACTTTCAT	0.373000													7	93					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655901	62655901	+	Silent	SNP	G	G	A	rs138892942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655901G>A	ENST00000377892.1	+	13	1946	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A	SLC3A2_ENST00000377891.2_Silent_p.A544A|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Silent_p.A512A|SLC3A2_ENST00000338663.7_Silent_p.A442A|SLC3A2_ENST00000536981.1_Silent_p.A88A|SLC3A2_ENST00000377889.2_Silent_p.A481A|SLC3A2_ENST00000377890.2_Silent_p.A543A			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	543					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTTCCACGCGTTCTCCGCTG	0.597000													14	109					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	108627	108627	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:108627G>T	ENST00000262316.6	-	18	2422	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	760					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGCCCAAAGGTGAAGAGGA	0.587000													8	61					1.06961e-07	1.26574e-07	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113522168	113522168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113522168C>A	ENST00000284601.3	-	3	960	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	298					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGGCTTCCAAATCTTCC	0.333000													6	95					0.00198382	0.00210581	1	1	0
IL18	3606	broad.mit.edu	37	11	112020819	112020819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:112020819C>A	ENST00000280357.7	-	4	421	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.D64Y|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000528832.1_Missense_Mutation_p.D68Y	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	68					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCAGTCATATCTTCAAATAGA	0.343000													5	81					0.248553	0.25002	1	1	0
NCOA5	57727	broad.mit.edu	37	20	44691373	44691373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44691373G>T	ENST00000290231.6	-	8	1470	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGAGGCTGAGGATTTTGGCC	0.592000													16	132					6.72482e-11	8.32712e-11	1	1	0
ZNF490	57474	broad.mit.edu	37	19	12719982	12719982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12719982T>C	ENST00000311437.6	-	2	274	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZNF490_ENST00000465656.1_5'UTR	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTTTGAGTCTTGATGCTTTG	0.423000													5	32					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940338	64940338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64940338T>C	ENST00000377185.2	+	6	782	c.700T>C	c.(700-702)Tca>Cca	p.S234P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	234					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAAGCCTGTGTCATCCAAGTG	0.597000													14	62					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257185	105257185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105257185A>G	ENST00000507740.1	+	18	3054	c.2818A>G	c.(2818-2820)Aca>Gca	p.T940A	RIMS2_ENST00000406091.3_Missense_Mutation_p.T1126A|RIMS2_ENST00000436393.2_Missense_Mutation_p.T1144A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T965A|RIMS2_ENST00000339750.2_Missense_Mutation_p.T62A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1188					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGAAGTACAGAAACAGG	0.438000										HNSCC(12;0.0054)			50	66					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642804	50642804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:50642804G>T	ENST00000371824.1	+	3	551	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ELAVL4_ENST00000371823.4_Missense_Mutation_p.K98N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K115N|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K101N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Missense_Mutation_p.K103N			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	98	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGATCCAAAGGATGCAGAGA	0.423000													8	53					3.09899e-07	3.63227e-07	1	1	0
NKX2-1	7080	broad.mit.edu	37	14	36988464	36988464	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36988464G>A	ENST00000518149.1	-	2	704	c.99C>T	c.(97-99)ggC>ggT	p.G33G	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.G63G|NKX2-1_ENST00000522719.2_Silent_p.G33G|NKX2-1_ENST00000498187.2_Silent_p.G33G			P43699	NKX21_HUMAN	NK2 homeobox 1	33					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCCGAGGCCGCCGCCCT	0.667000			A		NSCLC								5	3					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409377	59409377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59409377G>T	ENST00000301645.3	-	3	831	c.694C>A	c.(694-696)Cac>Aac	p.H232N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	232					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488000									Neonatal Giant Cell Hepatitis				10	118					0.00621372	0.00652201	1	1	0
HEPN1	641654	broad.mit.edu	37	11	124789722	124789722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124789722C>T	ENST00000408930.5	+	1	577	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	26						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTAGGGATGCAAGGACCCTT	0.498000													19	28					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669561	95669561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95669561C>T	ENST00000298912.4	-	9	2238	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	709						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGCTTGAAATCCAGGCCTTCT	0.567000													22	30					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185318632	185318632	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185318632G>C	ENST00000296257.5	+	5	678	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Silent_p.L136L|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	146					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAGAGTCCTGCCTTCCTTTG	0.373000													14	194					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47767694	47767694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47767694G>T	ENST00000263773.5	-	7	1171	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	387										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACACTGCAAAGATCCTCCTGA	0.383000													24	173					3.6726e-16	4.7309e-16	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235377287	235377287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235377287C>T	ENST00000264183.3	-	17	2135	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	ARID4B_ENST00000366603.2_Silent_p.E546E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	546	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcctcctcctcctcctctt	0.393000													46	50					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229588289	229588289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229588289C>T	ENST00000261396.3	-	22	3173	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	NUP133_ENST00000537506.1_Missense_Mutation_p.A1012T|NUP133_ENST00000366679.1_Missense_Mutation_p.A957T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1028					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTGTGGTGCAGTCAATACT	0.448000													6	69					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67473662	67473662	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67473662T>G	ENST00000327367.4	+	6	1052	c.742T>G	c.(742-744)Ttc>Gtc	p.F248V	SMAD3_ENST00000439724.3_Missense_Mutation_p.F204V|SMAD3_ENST00000540846.2_Missense_Mutation_p.F143V|SMAD3_ENST00000537194.2_Missense_Mutation_p.F53V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	248	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGGGGAGACATTCCACGCCTC	0.602000													3	36					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612619	158612619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612619G>A	ENST00000368148.3	-	32	4770	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D	SPTA1_ENST00000368147.3_Silent_p.D1530D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1530					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTAGTGGCGTCTTTGTAGG	0.433000													61	68					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121442055	121442055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121442055C>A	ENST00000445832.3	-	6	702	c.600G>T	c.(598-600)caG>caT	p.Q200H	C12orf43_ENST00000537817.1_Missense_Mutation_p.Q231H|C12orf43_ENST00000288757.3_Missense_Mutation_p.Q230H|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q220H|C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q189H			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	230	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCGACACCTGGTCCCCGT	0.562000													9	135					0.00829132	0.00869385	1	1	0
VPS51	738	broad.mit.edu	37	11	64875106	64875106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64875106C>T	ENST00000279281.3	+	3	504	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TGAGATGGACCGGCTGGCCAC	0.627000													8	32					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452104	74452104	+	Missense_Mutation	SNP	C	C	T	rs144930405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74452104C>T	ENST00000394019.2	-	28	3506	c.3109G>A	c.(3109-3111)Gtt>Att	p.V1037I	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V935I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V956I|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R977H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V1053I|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V1053I|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V956I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1053						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTTCGAACGATGATGAGG	0.453000													12	22					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441453	61441453	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441453G>T	ENST00000398571.2	-	68	8500	c.8424C>A	c.(8422-8424)gtC>gtA	p.V2808V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2808					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCAGCACAGACATTGTACC	0.413000													9	190					5.4927e-09	6.6252e-09	1	1	0
FAM207A	85395	broad.mit.edu	37	21	46380065	46380065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46380065C>T	ENST00000291634.6	+	3	382	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.R97C	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	112								p.R112C(1)									GAAGCTGAGGCGTGAGCAATG	0.567000													17	42					0	0	1	0	0
MIR518A1	0	broad.mit.edu	37	19	54234339	54234339	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54234339T>G	ENST00000385068.1	+	0	80					NR_030210.1																						GGATTACGGTTTGAGAAAAAC	0.473000													39	52					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344278	233344278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233344278C>A	ENST00000258229.8	-	13	3083	c.2849G>T	c.(2848-2850)aGg>aTg	p.R950M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R83M|PCNXL2_ENST00000430153.1_Missense_Mutation_p.R249M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	950						integral to membrane		p.R950M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGTAGTCCCTAGCTGATTG	0.463000													6	30					0.0215528	0.0221649	1	1	0
MBD6	0	broad.mit.edu	37	12	57919917	57919917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57919917C>A	ENST00000355673.3	+	6	1522	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	MBD6_ENST00000431731.2_Missense_Mutation_p.P389H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	389	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGAGCCGTCCTCGGGCCCCT	0.622000													21	36					1.01871e-10	1.25892e-10	1	1	0
TIMM21	29090	broad.mit.edu	37	18	71825417	71825417	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:71825417A>G	ENST00000169551.6	+	5	846	c.548A>G	c.(547-549)tAt>tGt	p.Y183C		NM_014177.2	NP_054896.2	Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	183					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TTCACTGAATATGTAAAAGAT	0.453000													5	35					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713915	30713915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30713915G>A	ENST00000295754.5	+	4	1622	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A439T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	414	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATGACCTGGCTAACAGTGG	0.522000													65	100					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74520848	74520848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74520848G>A	ENST00000422508.2	+	27	3880	c.3449G>A	c.(3448-3450)cGc>cAc	p.R1150H	CD109_ENST00000287097.5_Missense_Mutation_p.R1227H|CD109_ENST00000437994.2_Intron	NM_001159588.1	NP_001153060.1	Q6YHK3	CD109_HUMAN	CD109 molecule	1227						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R1227L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428000													26	18					0	0	1	0	0
ZNF833P	0	broad.mit.edu	37	19	11762659	11762659	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11762659A>T	ENST00000344893.3	+	0	671					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACTGGACACAAACCGTATGAG	0.458000													8	23					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8672545	8672545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8672545C>T	ENST00000317371.4	-	13	1630	c.405G>A	c.(403-405)ccG>ccA	p.P135P	SSUH2_ENST00000544814.1_Silent_p.P157P|SSUH2_ENST00000415132.1_Silent_p.P135P|SSUH2_ENST00000341795.3_Silent_p.P135P					ssu-2 homolog (C. elegans)																		CCTGAAACATCGGAGGACCTT	0.527000													19	25					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818948	17818948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818948G>T	ENST00000545871.1	-	3	1643	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	RAI2_ENST00000331511.1_Missense_Mutation_p.P395T|RAI2_ENST00000360011.1_Missense_Mutation_p.P395T|RAI2_ENST00000451717.1_Missense_Mutation_p.P395T|RAI2_ENST00000415486.3_Missense_Mutation_p.P345T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	395					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATCATGGCTGGGGCCTCATGG	0.542000													6	79					0.000157383	0.00017284	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102020663	102020663	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102020663C>A	ENST00000549145.1	+	4	217	c.117C>A	c.(115-117)gtC>gtA	p.V39V	MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.V39V|MYBPC1_ENST00000392934.3_Silent_p.V13V|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.V39V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000360610.2_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGAGGAAGTCTCCCCGCCTA	0.398000													25	52					4.72057e-08	5.61655e-08	1	1	0
PER1	5187	broad.mit.edu	37	17	8051983	8051983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8051983G>A	ENST00000317276.4	-	8	1264	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PER1_ENST00000581082.1_Missense_Mutation_p.R323C|PER1_ENST00000354903.5_Missense_Mutation_p.R327C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	343					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAATGGATGCGCTCTGCAATC	0.622000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					6	78					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80717747	80717747	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80717747G>T	ENST00000509894.1	+	3	1190	c.362_splice	c.e3+1	p.A121_splice	TTK_ENST00000230510.3_Splice_Site_p.A121_splice|TTK_ENST00000369798.2_Splice_Site_p.A121_splice			P33981	TTK_HUMAN	TTK protein kinase	121					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAAAGCGTAAGTATT	0.333000													9	20					2.17888e-05	2.45068e-05	1	1	0
WDR47	22911	broad.mit.edu	37	1	109554001	109554001	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109554001T>A	ENST00000357672.3	-	4	958	c.583A>T	c.(583-585)Agc>Tgc	p.S195C	WDR47_ENST00000400794.3_Missense_Mutation_p.S230C|WDR47_ENST00000369965.4_Missense_Mutation_p.S223C|WDR47_ENST00000369962.3_Missense_Mutation_p.S223C|WDR47_ENST00000361054.3_Missense_Mutation_p.S195C			O94967	WDR47_HUMAN	WD repeat domain 47	223										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCACTTCGCTTTCTGTAATT	0.383000													17	317					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695448	49695448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49695448C>A	ENST00000296452.4	+	5	8573	c.8459C>A	c.(8458-8460)gCt>gAt	p.A2820D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2820					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGAACAAAGCTCACGTGAGT	0.627000													30	41					7.01153e-11	8.6781e-11	1	1	0
PIK3C3	5289	broad.mit.edu	37	18	39607487	39607487	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39607487G>T	ENST00000262039.4	+	14	1651	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R7I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R459I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	522					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACGTAATGAGAAGATTCAGC	0.423000										TSP Lung(28;0.18)			7	55					0.27861	0.279982	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103554	65103554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65103554A>G	ENST00000358691.5	-	31	5138	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	HELZ_ENST00000580168.1_Missense_Mutation_p.F1659L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGAGTTGAATATCTGGGGT	0.478000													5	69					0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89719110	89719110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719110C>T	ENST00000352732.5	+	6	1126	c.606C>T	c.(604-606)gtC>gtT	p.V202V	ABHD2_ENST00000355100.3_Silent_p.V202V|ABHD2_ENST00000565973.1_Silent_p.V202V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	202						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCAGCTGGTCGTCGTGGGCT	0.537000													33	35					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99678325	99678325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99678325T>C	ENST00000394132.2	-	14	2051	c.1234A>G	c.(1234-1236)Aag>Gag	p.K412E	TTC23_ENST00000558613.1_Missense_Mutation_p.K412E|TTC23_ENST00000394136.1_Missense_Mutation_p.K412E|TTC23_ENST00000558663.1_Missense_Mutation_p.K412E|TTC23_ENST00000394135.3_Missense_Mutation_p.K412E|TTC23_ENST00000262074.4_Missense_Mutation_p.K412E			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	412							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GAAGCAACCTTGGGGGCCCTG	0.652000													15	23					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113961365	113961365	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:113961365C>T	ENST00000276198.1	+	3	748	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HTR2C_ENST00000371950.3_Missense_Mutation_p.A7V|HTR2C_ENST00000371951.1_Missense_Mutation_p.A7V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGAGGAATGCGGTGCATTCA	0.343000													11	10					0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184240733	184240733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184240733C>T	ENST00000323319.5	-	1	1194	c.639G>A	c.(637-639)acG>acA	p.T213T	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	213					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGTGTTTCTCGTCTCCAGTT	0.542000													99	202					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021500	27021500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:27021500G>T	ENST00000354760.3	+	4	249	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	72	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCTGGAACGAGGCGAATATCC	0.617000													12	173					5.50884e-06	6.28354e-06	1	1	0
RNF32	140545	broad.mit.edu	37	7	156468554	156468554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156468554G>A	ENST00000405335.1	+	9	1258	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RNF32_ENST00000317955.5_Silent_p.V283V|RNF32_ENST00000343665.4_Silent_p.V259V|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Silent_p.V283V|RNF32_ENST00000311822.8_Silent_p.V283V|RNF32_ENST00000392743.2_Silent_p.V283V			Q9H0A6	RNF32_HUMAN	ring finger protein 32	283						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAATCCAAGTGCAGGTAGGTT	0.527000													18	52					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87294956	87294956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:87294956G>A	ENST00000263780.4	+	3	457	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000494980.1_Silent_p.T73T	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	73					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.T73T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363000													22	38					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691388	39691388	+	Missense_Mutation	SNP	C	C	T	rs113786921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39691388C>T	ENST00000339852.4	+	6	842	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	274					protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTGCAGCTCCGGGAGTGACT	0.607000													79	116					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22986052	22986052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22986052C>T	ENST00000509305.1	+	2	443	c.97C>T	c.(97-99)Cca>Tca	p.P33S	C1QB_ENST00000314933.6_Missense_Mutation_p.P35S			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	35					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCGGGCCCCCAGCCATCCC	0.602000													5	30					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419887	56419887	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56419887C>T	ENST00000407595.2	+	2	1054	c.552C>T	c.(550-552)cgC>cgT	p.R184R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	184										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCAGCCGCTGCTCCATCG	0.622000													9	35					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671864	30671864	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671864T>G	ENST00000376406.3	-	10	5743	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	MDC1_ENST00000376405.2_Missense_Mutation_p.E1435A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1699	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGATTGGAATTCAGGGGTGGT	0.557000								Other conserved DNA damage response genes					6	79					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642134	167642134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167642134G>A	ENST00000519204.1	+	20	3690	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	TENM2_ENST00000520394.1_Missense_Mutation_p.R1073H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1136H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1312H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1311H					teneurin transmembrane protein 2																		AGAATCTACCGCGTCAAGTCT	0.562000													34	51					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623516	34623516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34623516C>T	ENST00000378909.2	-	4	863	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	257	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACTGGGTCGCCGGAGGGGCGG	0.706000													4	39					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48088512	48088512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48088512C>A	ENST00000264316.4	-	10	1012	c.927G>T	c.(925-927)gaG>gaT	p.E309D		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	309	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAATGAAATCCTCTTCAGACA	0.443000													10	136					2.27111e-07	2.66951e-07	1	1	0
ELK1	2002	broad.mit.edu	37	X	47497220	47497220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497220G>A	ENST00000247161.3	-	4	1115	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S339L|ELK1_ENST00000592066.1_Missense_Mutation_p.S285L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACTTCCCGATCCTGGGGT	0.692000													4	4					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455764	83455764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83455764C>T	ENST00000334574.8	-	2	560	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	FSD2_ENST00000541889.1_Missense_Mutation_p.A127T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	127										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCGGCCTCCGCTGCCTCTCCA	0.587000													4	60					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110754	155110754	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110754C>A	ENST00000368404.4	+	6	725	c.663C>A	c.(661-663)acC>acA	p.T221T	SLC50A1_ENST00000484157.1_Silent_p.T156T|SLC50A1_ENST00000303343.8_Silent_p.T167T|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Silent_p.T166T	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	221	Mediates interaction with TRPV2 (By similarity).				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCCTGCAAACCTGAGGCTGCT	0.547000													7	12					1.12685e-05	1.27857e-05	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8792129	8792129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8792129C>T	ENST00000447110.1	-	10	1099	c.975G>A	c.(973-975)gaG>gaA	p.E325E	PIK3R5_ENST00000584803.1_Silent_p.E325E|PIK3R5_ENST00000581552.1_Silent_p.E325E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	325				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						cctcctcctcctcttcctcct	0.582000													3	31					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167675250	167675250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167675250C>T	ENST00000519204.1	+	26	7061	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*	TENM2_ENST00000520394.1_Nonsense_Mutation_p.R2197*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.R2260*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.R2436*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.R2435*					teneurin transmembrane protein 2																		GCTGGCAGGACGATGGACCTC	0.537000													13	35					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291149	5291149	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291149C>A	ENST00000357006.4	-	4	1396	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R353I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ACTGTGAACTCTCTCATGCTT	0.438000													6	102					2.7689e-08	3.31013e-08	1	1	0
STK24	8428	broad.mit.edu	37	13	99127180	99127180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99127180G>A	ENST00000397517.2	-	5	568	c.492C>T	c.(490-492)ggC>ggT	p.G164G	STK24_ENST00000376547.3_Silent_p.G176G|STK24_ENST00000539966.1_Silent_p.G145G	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	176	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCCAGCCACGCCAAAGTCCG	0.597000													14	15					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22005070	22005070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22005070C>T	ENST00000261200.4	-	22	2729	c.2730G>A	c.(2728-2730)tgG>tgA	p.W910*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W910*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W874*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	910	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTGTTTTCCAGTGTTCAT	0.373000													26	33					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82991211C>T	ENST00000529689.1	-	2	627	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388000													10	112					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407364	185407364	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185407364A>G	ENST00000382199.2	-	6	551	c.456T>C	c.(454-456)atT>atC	p.I152I	IGF2BP2_ENST00000457616.2_Silent_p.I158I|IGF2BP2_ENST00000346192.3_Silent_p.I152I|IGF2BP2_ENST00000421047.2_Silent_p.I95I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	152	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATGTAGGAAATCTTGAAGG	0.582000													34	36					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327369	133327369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133327369C>T	ENST00000539605.1	-	2	7205	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R236Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R236Q			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	236						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTTTAAATCGGGACCCTTT	0.373000													27	48					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1281235	1281235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1281235G>A	ENST00000447027.1	+	46	16910	c.16852G>A	c.(16852-16854)Gtg>Atg	p.V5618M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V5615M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5615					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACTGCACCGTGTACCTCTG	0.577000													35	60					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803420	23803420	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23803420G>A	ENST00000264867.2	-	12	2345	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	742	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTCAGTTTCGTTTGACCTGC	0.413000													7	45					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11075411	11075411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11075411C>T	ENST00000403050.3	+	8	2052	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.Q249*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	534							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACCAGAAGCACAGGTATGGGA	0.393000													66	181					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110260004	110260004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110260004C>T	ENST00000369812.5	+	8	741	c.670C>T	c.(670-672)Cga>Tga	p.R224*	GSTM5_ENST00000256593.3_Nonsense_Mutation_p.R205*|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	205					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAATTCCTCCGAGGTCTTTT	0.547000													4	117					0	0	1	0	0
PCDHA12	0	broad.mit.edu	37	5	140257242	140257242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140257242G>A	ENST00000398631.2	+	1	2185	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACCGTGAGCCGGTG	0.647000													18	11					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5922666	5922666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5922666C>A	ENST00000203001.2	-	8	1173	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	TRMT6_ENST00000453074.2_Missense_Mutation_p.R178M|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTCTTGTCTCCTCTGTTTTTC	0.423000													19	153					1.96292e-10	2.41709e-10	1	1	0
ARGFX	503582	broad.mit.edu	37	3	121304887	121304887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121304887C>T	ENST00000334384.3	+	4	398	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGGAACCGGCGATTCAAATT	0.522000													13	22					0	0	1	0	0
SPATA33	124045	broad.mit.edu	37	16	89724737	89724737	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89724737G>T	ENST00000301031.4	+	2	116	c.116G>T	c.(115-117)aGg>aTg	p.R39M	SPATA33_ENST00000568929.1_Missense_Mutation_p.R9M|SPATA33_ENST00000579310.1_Missense_Mutation_p.R40M	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33																		CAGGAAGCCAGGCAGGCAGAC	0.567000													4	32					0.00909568	0.00947522	1	1	0
CRKL	1399	broad.mit.edu	37	22	21288371	21288371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21288371G>A	ENST00000354336.3	+	2	1125	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	206					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ACCTGCTCATGCATACGCTCA	0.502000													40	50					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914072	1914072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1914072T>C	ENST00000399161.2	-	13	2504	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q584R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	586					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCTTTTCCTGTGCCTTGGC	0.592000													7	23					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87969994	87969994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87969994G>A	ENST00000309893.2	-	1	128	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	21					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCCAGAGAGGGGCCCACATCT	0.522000													27	57					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132034985	132034985	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132034985G>T	ENST00000378746.4	-	16	2147	c.1929C>A	c.(1927-1929)ccC>ccA	p.P643P	KIF3A_ENST00000378735.1_Silent_p.P646P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.P670P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	643					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCTCAAAGGGCTAAGTAA	0.403000													7	71					2.0095e-06	2.31757e-06	1	1	0
DECR2	26063	broad.mit.edu	37	16	455024	455024	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149_splice	c.e2+1	p.R50_splice	DECR2_ENST00000397710.1_Splice_Site_p.R50_splice|DECR2_ENST00000424398.2_Splice_Site_p.R50_splice	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552000													36	75					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77569213	77569213	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77569213T>C	ENST00000377453.3	+	2	1628	c.336T>C	c.(334-336)cgT>cgC	p.R112R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	63					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGACTTCCGTCCAAAACCTG	0.363000													12	85					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873734	36873734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36873734G>A	ENST00000325718.7	+	11	1792	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	567					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCGGGATGCTGCGGGCTGTCT	0.662000			T	MLL	AL								23	37					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91948197	91948197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91948197G>A	ENST00000554684.1	-	4	1134	c.638C>T	c.(637-639)tCt>tTt	p.S213F	SMEK1_ENST00000337238.4_Missense_Mutation_p.S213F|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.S213F			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	213						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATTCTTCAGAGAACATAAC	0.348000													26	48					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520108	58520108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58520108C>T	ENST00000302819.5	-	3	593	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ACOX2_ENST00000459701.2_Missense_Mutation_p.R101H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	101					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCCTAATTCACGACCATCTTC	0.537000													4	86					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035532	160035532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160035532G>T	ENST00000263635.6	+	14	2605	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	TANC1_ENST00000454300.1_Missense_Mutation_p.D684Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	790						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGATGGGAAGACTTTCAGCA	0.562000													9	147					2.17888e-05	2.45068e-05	1	1	0
ASNS	440	broad.mit.edu	37	7	97498288	97498288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97498288G>A	ENST00000175506.4	-	4	709	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ASNS_ENST00000422745.1_Missense_Mutation_p.P40S|ASNS_ENST00000394309.3_Missense_Mutation_p.P61S|ASNS_ENST00000444334.1_Missense_Mutation_p.P40S|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.P61S|ASNS_ENST00000455086.1_Intron	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	61	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTCGAATTGGCTGCATTCCA	0.453000													28	83					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656417	28656417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28656417C>A	ENST00000328886.4	-	3	285	c.213G>T	c.(211-213)gaG>gaT	p.E71D	TMIGD1_ENST00000538566.2_Missense_Mutation_p.E71D	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	71	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCACTCTCCCCTCCTCTCGGT	0.463000													15	58					3.45872e-05	3.88335e-05	1	1	0
PTPRJ	5795	broad.mit.edu	37	11	48166412	48166412	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48166412A>C	ENST00000418331.2	+	13	3113	c.2761A>C	c.(2761-2763)Aag>Cag	p.K921Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	921				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTACAATGGGAAGCTGGAACC	0.458000													6	132					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43242388	43242388	+	Silent	SNP	G	G	A	rs139162933	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43242388G>A	ENST00000422911.1	-	16	2039	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PRDM15_ENST00000447207.2_Silent_p.I589I|PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000269844.3_Silent_p.I955I|PRDM15_ENST00000398548.1_Silent_p.I626I			P57071	PRD15_HUMAN	PR domain containing 15	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527000													23	55					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75608864	75608864	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75608864A>G	ENST00000394893.1	+	4	353	c.333A>G	c.(331-333)cgA>cgG	p.R111R	POR_ENST00000461988.1_Silent_p.R111R|POR_ENST00000475509.1_3'UTR|POR_ENST00000419840.1_5'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	108	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACGGGATGCGAGGCATGTCAG	0.627000													3	68					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1642691	1642691	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1642691T>G	ENST00000252804.4	-	21	4183	c.4133A>C	c.(4132-4134)gAt>gCt	p.D1378A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1378					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCAGATGCATCTGAGCGTGT	0.537000													23	34					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917922	94917922	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94917922G>T	ENST00000289495.5	+	17	3786	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1268H|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q992H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	992						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTGCAGCAGGTTTCTCACT	0.453000										HNSCC(28;0.073)			21	93					1.55795e-14	1.98882e-14	1	1	0
ZNF750	79755	broad.mit.edu	37	17	80788577	80788577	+	Missense_Mutation	SNP	G	G	A	rs142714888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788577G>A	ENST00000269394.3	-	3	2446	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A139V	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	538						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGGTTTCCGCCTGGGGGCT	0.627000													7	66					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41371941	41371941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41371941C>A	ENST00000361937.3	-	9	1513	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	INO80_ENST00000401393.3_Missense_Mutation_p.K363N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	363	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAAAGCTTCCTTCTCTGCTC	0.478000													9	326					2.80697e-09	3.39963e-09	1	1	0
FANCD2	2177	broad.mit.edu	37	3	10122797	10122797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10122797G>A	ENST00000287647.3	+	31	3083	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	FANCD2_ENST00000419585.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383806.1_Missense_Mutation_p.R997Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	997					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGGAAGCCGGAATATTGGA	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				41	54					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85570391	85570391	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85570391T>C	ENST00000295802.4	-	11	1919	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V	RETSAT_ENST00000457495.2_Missense_Mutation_p.I542V|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	603					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTGCCCGGATCCTAGAATCA	0.522000													5	46					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925050	107925050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107925050C>T	ENST00000328300.6	+	47	4392	c.4148C>T	c.(4147-4149)cCt>cTt	p.P1383L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1377L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1377	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATGCTGGTCCTCCAGGAATC	0.463000									Alport syndrome with Diffuse Leiomyomatosis				31	56					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107427951G>A	ENST00000340010.5	-	7	923	c.739C>T	c.(739-741)Cta>Tta	p.L247L	SLC26A3_ENST00000422236.2_Silent_p.L212L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323000													73	41					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025186	34025186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34025186A>G	ENST00000374372.1	-	3	1026	c.523T>C	c.(523-525)Tcg>Ccg	p.S175P	GDF5_ENST00000374369.3_Missense_Mutation_p.S175P			P43026	GDF5_HUMAN	growth differentiation factor 5	175					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGTACAGCGAGAGCATGTAC	0.612000													26	46					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674104	167674104	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674104C>A	ENST00000519204.1	+	26	5915	c.5797C>A	c.(5797-5799)Ctc>Atc	p.L1933I	TENM2_ENST00000520394.1_Missense_Mutation_p.L1815I|TENM2_ENST00000403607.2_Missense_Mutation_p.L1878I|TENM2_ENST00000518659.1_Missense_Mutation_p.L2054I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2053I					teneurin transmembrane protein 2																		GATGGTCAACCTCCAAAGTGG	0.532000													7	75					0.0381472	0.0390147	1	1	0
ZNF74	7625	broad.mit.edu	37	22	20760798	20760798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20760798G>A	ENST00000400451.2	+	5	1989	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.R460H|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.R492H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	492					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGCACCGGCGCATCCACACA	0.637000													24	36					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012083	96012083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96012083G>A	ENST00000260766.3	+	9	3741	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.R1036Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R728Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R728Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1036					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGGATGGACGGTATGAAGGC	0.493000													22	43					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25434110	25434110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434110C>T	ENST00000278886.6	-	24	4199	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.A1027T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1376					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCGGGGGCAATCCTACTG	0.498000													34	34					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27676877	27676877	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27676877C>A	ENST00000260570.3	-	33	3786	c.3683G>T	c.(3682-3684)aGa>aTa	p.R1228I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1228					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGGCCTGGTCTCTGGGCCCG	0.617000													22	55					9.57634e-11	1.18454e-10	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110451259	110451259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451259G>A	ENST00000260283.4	-	16	2695	c.2411C>T	c.(2410-2412)gCa>gTa	p.A804V	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A778V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A781V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A347V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A778V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	804					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTATAAGATGCCACAGAAAT	0.448000													39	75					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126125	121126125	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126125T>C	ENST00000273666.6	+	24	2966	c.2695T>C	c.(2695-2697)Ttc>Ctc	p.F899L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F899L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F873L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F875L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	899					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGCTAACATTCTCCTGTAT	0.373000													6	60					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26611954	26611954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26611954C>T	ENST00000436301.2	-	8	727	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000374222.1_Splice_Site|UBXN11_ENST00000535108.1_Missense_Mutation_p.V127M|UBXN11_ENST00000374221.3_Splice_Site			Q5T124	UBX11_HUMAN	UBX domain protein 11	285						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CAGCTTATCACCTTAAAGGGG	0.557000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684577	3684577	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3684577G>A	ENST00000344754.4	-	4	867	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SIGLEC1_ENST00000202578.4_Silent_p.L290L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	290	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGTGCAGCACACCAGTC	0.602000													15	23					0	0	1	0	0
RPL26L1	51121	broad.mit.edu	37	5	172387010	172387010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172387010G>A	ENST00000521476.1	+	2	258	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R45H			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACAATGTCCGCTCCATGCCC	0.592000													5	69					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427823	47427823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427823C>T	ENST00000295454.3	+	9	1505	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R335C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	405					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATCCAGTACCGCAAGCCCCT	0.662000													5	52					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385353	26385353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26385353C>T	ENST00000356709.4	+	3	316	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	69	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547000													13	27					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49856787	49856787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49856787C>T	ENST00000376088.3	+	15	3003	c.2360_splice	c.e15-1	p.R788_splice	CLCN5_ENST00000376108.3_Splice_Site_p.R718_splice|CLCN5_ENST00000376091.3_Splice_Site_p.R788_splice|CLCN5_ENST00000307367.2_Splice_Site_p.R718_splice	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	718					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTTTTAGGCGATTGCTTGG	0.353000													14	36					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36168426	36168426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36168426T>C	ENST00000274255.6	+	5	744	c.548T>C	c.(547-549)gTa>gCa	p.V183A	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.V183A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTCGTGTACAGCACATG	0.498000													20	269					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107752304	107752304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107752304C>T	ENST00000388781.3	-	4	363	c.280G>A	c.(280-282)Gta>Ata	p.V94I	LAMB4_ENST00000388780.3_Missense_Mutation_p.V94I|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94I|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	94	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363000													34	111					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21990049	21990049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21990049G>A	ENST00000404933.2	+	3	457	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SMS_ENST00000379404.1_Intron|SMS_ENST00000478094.1_Intron|SMS_ENST00000415881.2_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	69					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACATGGATTGGTGTTGCTGGA	0.368000													31	36					0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44154395	44154395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44154395G>T	ENST00000406581.2	-	12	2048	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	POLD2_ENST00000452185.1_Missense_Mutation_p.L467M|POLD2_ENST00000223361.3_Missense_Mutation_p.L453M	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	467					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGGGGCCCAGCCCCAGGCCT	0.602000													7	31					5.18039e-06	5.91835e-06	1	1	0
ALKBH1	8846	broad.mit.edu	37	14	78142174	78142174	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78142174A>G	ENST00000216489.3	-	5	580	c.565T>C	c.(565-567)Tac>Cac	p.Y189H		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	189					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAGGTGTGTAATGATCTGCT	0.393000													19	33					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488955	61488955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61488955G>A	ENST00000335351.3	-	4	1122	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TCFL5_ENST00000217162.5_Missense_Mutation_p.R296W	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ATTCTACTCCGATTCCTCTTC	0.443000													27	44					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887407	12887407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887407C>T	ENST00000535591.1	-	3	645	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	150										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCGGAAGGGCATTCCCAAAA	0.468000													18	294					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893380	144893380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144893380C>T	ENST00000356994.2	-	10	1048	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SCRIB_ENST00000320476.3_Missense_Mutation_p.A348T|SCRIB_ENST00000377533.3_Missense_Mutation_p.A267T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	348	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGGACGGCCAGGCGGTTG	0.687000													8	5					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360211	72360211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360211G>A	ENST00000001146.2	-	5	1290	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172C|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGAACAGGCGCATGACCTCC	0.672000													13	24					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62100196	62100196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62100196G>T	ENST00000394440.3	-	10	1362	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	CCT4_ENST00000538252.1_Missense_Mutation_p.L300M|CCT4_ENST00000544079.1_Missense_Mutation_p.L326M|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.L206M	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	356					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GCAGAACCCAGCATGTCAGCA	0.363000													14	222					6.72482e-11	8.32712e-11	1	1	0
RPP40	10799	broad.mit.edu	37	6	4996278	4996278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996278G>T	ENST00000380051.2	-	7	844	c.800C>A	c.(799-801)cCt>cAt	p.P267H	RPP40_ENST00000464646.1_Missense_Mutation_p.P207H|RPP40_ENST00000319533.5_Missense_Mutation_p.P244H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	267					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTTGGCTCAGGACAGCAATA	0.383000													25	45					3.28513e-13	4.1605e-13	1	1	0
TAF9	6880	broad.mit.edu	37	5	68647899	68647899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68647899G>T	ENST00000380822.4	-	5	559	c.508C>A	c.(508-510)Cat>Aat	p.H170N	TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.H167N|TAF9_ENST00000512561.1_Missense_Mutation_p.H139N	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	170						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAAGAGTTATGATCTTTGATC	0.358000													8	41					0.0381472	0.0390147	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86921845	86921845	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:86921845C>T	ENST00000395184.1	+	10	2683	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	ARHGAP24_ENST00000264343.4_Silent_p.T646T|ARHGAP24_ENST00000395183.2_Silent_p.T644T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	739					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAGGAGAACCGAGAGAGGAA	0.473000													3	18					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673579	36673579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36673579C>T	ENST00000355114.5	-	5	2135	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	ZNF565_ENST00000392173.2_Missense_Mutation_p.R430H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R430H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGTGAAACACGAATAAAGGC	0.428000													24	29					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605246	58605246	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58605246G>T	ENST00000267485.7	-	2	1025	c.831C>A	c.(829-831)tcC>tcA	p.S277S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGTGTACTCGGAAGTTTCGA	0.552000													29	34					9.80776e-20	1.28469e-19	1	1	0
GOT1	2805	broad.mit.edu	37	10	101163503	101163503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101163503G>T	ENST00000370508.5	-	6	798	c.771C>A	c.(769-771)ttC>ttA	p.F257L	GOT1_ENST00000543866.1_Missense_Mutation_p.F236L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	257					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTCTTGGAGAAGGACTGGG	0.552000													28	45					3.73988e-18	4.86822e-18	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141010080	141010080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:141010080G>A	ENST00000277549.5	+	42	5877	c.3308G>A	c.(3307-3309)cGg>cAg	p.R1103Q	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1909Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1908Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1907Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1910Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1909Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1909					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGAGGAGCCCGGGTTTTCCTT	0.597000													29	45					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793761	124793761	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124793761C>T	ENST00000298251.4	-	3	978	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGAGCATTCTCGAGTCATTGA	0.582000													9	20					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518375	37518375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37518375G>A	ENST00000432825.2	-	9	2309	c.2261C>T	c.(2260-2262)gCg>gTg	p.A754V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.A279V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	754						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTCCCCATTCGCGTGGATCAC	0.587000													12	20					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47480773	47480773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47480773C>A	ENST00000285039.7	-	13	1877	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	526	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATAGAGCTTCTGAGCCCAGT	0.567000													11	31					2.27111e-07	2.66951e-07	1	1	0
IBTK	25998	broad.mit.edu	37	6	82883084	82883084	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883084T>C	ENST00000306270.7	-	27	4346	c.3797_splice	c.e27+1	p.N1266_splice	IBTK_ENST00000510291.1_Splice_Site_p.N1251_splice|IBTK_ENST00000503631.1_Splice_Site_p.N1065_splice	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1266					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAACCTTACTTGGGACTGTC	0.423000													16	49					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027151	245027151	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245027151G>A	ENST00000444376.2	-	1	693	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HNRNPU_ENST00000283179.9_Silent_p.G153G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	153	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G153G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGTTCTCGTCGCCCGCGCCTT	0.692000													3	15					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808411	48808411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48808411G>A	ENST00000309835.3	+	1	649	c.639G>A	c.(637-639)gaG>gaA	p.E213E	STON1-GTF2A1L_ENST00000405008.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E213E|STON1_ENST00000404752.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E213E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E213E|STON1_ENST00000406226.1_Silent_p.E213E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAAGGAGATGCCTATTG	0.408000													23	36					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498942	61498942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498942A>G	ENST00000424789.2	+	25	5603	c.5599A>G	c.(5599-5601)Acc>Gcc	p.T1867A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.T1877A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1867							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGAATCGGACCTGGGCAGT	0.577000													5	56					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398141	57398141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57398141C>A	ENST00000300101.2	-	2	646	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCAACATTCTTCTCTTCCT	0.552000													43	81					6.21074e-16	7.99102e-16	1	1	0
GNL3	26354	broad.mit.edu	37	3	52724697	52724697	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724697A>C	ENST00000394799.2	+	7	805	c.595A>C	c.(595-597)Aag>Cag	p.K199Q	GNL3_ENST00000418458.1_Missense_Mutation_p.K211Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	211					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAAAACCAAAGGATAAAGG	0.353000													20	193					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16838749G>A	ENST00000355661.3	-	11	1474	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.P488P|PLEKHA7_ENST00000531066.1_Silent_p.P488P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	488					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637000													34	65					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410491	152410491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152410491C>T	ENST00000427231.2	-	126	19679	c.19477G>A	c.(19477-19479)Gtg>Atg	p.V6493M	NEB_ENST00000409198.1_Missense_Mutation_p.V4792M|NEB_ENST00000397345.3_Missense_Mutation_p.V6493M|NEB_ENST00000603639.1_Missense_Mutation_p.V6493M|NEB_ENST00000604864.1_Missense_Mutation_p.V6493M|NEB_ENST00000172853.10_Missense_Mutation_p.V4792M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4792	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGGGCACGATGTGGATT	0.458000													40	88					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50784986	50784986	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50784986G>A	ENST00000433963.1	+	16	2823	c.2323G>A	c.(2323-2325)Gct>Act	p.A775T	USP8_ENST00000307179.4_Missense_Mutation_p.A775T|USP8_ENST00000425032.3_Missense_Mutation_p.A669T|USP8_ENST00000396444.3_Missense_Mutation_p.A775T	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	775					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGGACCAGCTCTTACTGG	0.413000													8	107					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2779761	2779761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2779761G>T	ENST00000381163.3	+	9	1411	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	GYG2_ENST00000542787.1_Missense_Mutation_p.D377Y|GYG2_ENST00000338623.5_Missense_Mutation_p.D377Y|GYG2_ENST00000398806.3_Missense_Mutation_p.D346Y|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	377					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTTCAGAAGATGTAAGTAC	0.582000													6	6					0.248553	0.25002	1	1	0
SLC10A7	84068	broad.mit.edu	37	4	147215246	147215246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147215246A>G	ENST00000432059.2	-	7	764	c.516_splice	c.e7-1	p.I173_splice	SLC10A7_ENST00000394062.3_Splice_Site_p.I186_splice|SLC10A7_ENST00000335472.7_Splice_Site_p.I186_splice|SLC10A7_ENST00000507030.1_Splice_Site_p.I186_splice|SLC10A7_ENST00000264986.3_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	186						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCTTCGGACAATCTGAAATAC	0.423000													5	36					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809827	149809827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149809827C>T	ENST00000370396.2	+	8	668	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MTM1_ENST00000542741.1_Missense_Mutation_p.P110L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.P168L|MTM1_ENST00000543350.1_Missense_Mutation_p.P90L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	205	Myotubularin phosphatase.		P -> L (in XCNM; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTCCGTATCGTGCC	0.438000													46	80					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37594504	37594504	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37594504A>G	ENST00000338415.3	+	4	834	c.676A>G	c.(676-678)Acc>Gcc	p.T226A	QPCT_ENST00000537448.1_Missense_Mutation_p.T177A	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATGGCATCGACCCCGCACCC	0.532000													13	54					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869430	76869430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76869430G>A	ENST00000409709.3	+	9	1229	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MYO7A_ENST00000409893.1_Silent_p.S319S|MYO7A_ENST00000409619.2_Silent_p.S308S|MYO7A_ENST00000458637.2_Silent_p.S319S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	319	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGATCTCGAAGCTCCTGG	0.632000													8	26					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996467	34996467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996467C>T	ENST00000541010.1	+	2	3429	c.417C>T	c.(415-417)ggC>ggT	p.G139G	DNAJB5_ENST00000545841.1_Silent_p.G139G|DNAJB5_ENST00000453597.3_Silent_p.G253G|DNAJB5_ENST00000335998.3_Silent_p.G173G|DNAJB5_ENST00000312316.5_Silent_p.G139G|DNAJB5_ENST00000454002.2_Silent_p.G211G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	139					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACCCATTTGGCGCTTTCGGCC	0.592000													19	19					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477443	42477443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42477443G>A	ENST00000434000.1	-	9	2050	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R668*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	668						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCCAGATCGTTCTTTCTTG	0.498000													47	85					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545559	94545559	+	Missense_Mutation	SNP	G	G	A	rs145620061	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94545559G>A	ENST00000330836.5	-	2	661	c.530C>T	c.(529-531)gCg>gTg	p.A177V	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.A134V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	177					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCATGTCTTCGCTTTTTTGGG	0.468000													25	30					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332042	186332042	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186332042A>C	ENST00000367478.3	-	6	919	c.623T>G	c.(622-624)cTt>cGt	p.L208R	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	208					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGAGCCAGAAGTTCATCAGT	0.328000			T	NTRK1	papillary thyroid								24	24					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153730127	153730127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153730127G>A	ENST00000456435.1	+	10	1605	c.419G>A	c.(418-420)cGc>cAc	p.R140H	INTS3_ENST00000512605.1_Missense_Mutation_p.R140H|INTS3_ENST00000318967.2_Missense_Mutation_p.R346H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R346H			Q68E01	INT3_HUMAN	integrator complex subunit 3	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R346H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCTCTGCGCTGTGACCTC	0.517000													56	56					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090742	34090742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34090742G>A	ENST00000373381.4	-	34	5585	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	CSMD2_ENST00000373380.1_Silent_p.S676S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1763	CUB 11.					integral to membrane|plasma membrane	protein binding	p.S1763S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATAGCCGGAGTTGCATT	0.647000													20	35					0	0	1	0	0
SNRPF	6636	broad.mit.edu	37	12	96273469	96273469	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96273469T>C	ENST00000552085.1	+	3	238	c.133T>C	c.(133-135)Ttc>Ctc	p.F45L	SNRPF_ENST00000553192.1_Missense_Mutation_p.F45L|CCDC38_ENST00000344280.3_Silent_p.E365E			P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	45					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|lung(1)	2						CTTCAAGATTTTCATCTACAT	0.338000													7	141					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96005763	96005763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96005763C>T	ENST00000260766.3	+	8	3115	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	PLCE1_ENST00000371380.2_Silent_p.Y827Y|PLCE1_ENST00000371375.1_Silent_p.Y519Y|PLCE1_ENST00000371385.3_Silent_p.Y519Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	827					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAAAGAATACGACTCTCATG	0.443000													27	53					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42046725	42046725	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42046725A>G	ENST00000359308.4	+	7	1615		c.e7-1		XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000405506.1_Splice_Site|XRCC6_ENST00000360079.3_Splice_Site|XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCTCCTTCAGATCTATGGG	0.423000								Non-homologous end-joining					5	69					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129139263	129139263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129139263G>A	ENST00000540052.1	+	1	100	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Missense_Mutation_p.R19Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R19Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R19Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	19					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTTCTGACCGGATTCGCATG	0.607000													63	119					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91386579	91386579	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91386579T>A	ENST00000261991.3	-	7	950	c.777A>T	c.(775-777)ggA>ggT	p.G259G	RPS6KA5_ENST00000418736.2_Silent_p.G259G|RPS6KA5_ENST00000536315.2_Silent_p.G180G	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	259	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTTTTTTCTCCATCAACAG	0.343000													12	117					0	0	1	0	0
RPL15	6138	broad.mit.edu	37	3	23960723	23960723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23960723C>A	ENST00000307839.5	+	4	985	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	RPL15_ENST00000456530.2_Missense_Mutation_p.L116M|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.L116M|RPL15_ENST00000415719.1_Missense_Mutation_p.L116M|RPL15_ENST00000413699.1_Missense_Mutation_p.L116M|RPL15_ENST00000354811.5_Missense_Mutation_p.L116M	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGAGAGTCCTGAATTCTTA	0.448000													5	82					0.217242	0.218821	1	1	0
CRNKL1	51340	broad.mit.edu	37	20	20023022	20023022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20023022G>A	ENST00000377340.2	-	9	1625	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	532					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TAAATGTAGCGCTTCCAGTGC	0.453000													44	65					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442895	33442895	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442895G>T	ENST00000297991.4	-	4	527	c.447C>A	c.(445-447)acC>acA	p.T149T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	149					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGAGGGGTAGGTAGCAAAGA	0.552000													38	84					2.09667e-21	2.75882e-21	1	1	0
PLSCR1	5359	broad.mit.edu	37	3	146246561	146246561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146246561G>A	ENST00000342435.4	-	4	562	c.152C>T	c.(151-153)gCc>gTc	p.A51V	PLSCR1_ENST00000487389.1_Missense_Mutation_p.A44V|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	51					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGAATGGCCGGCTGGTGGGGG	0.522000													14	23					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47646785G>A	ENST00000398742.2	+	3	231	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR111_ENST00000296862.1_Missense_Mutation_p.G129E|GPR111_ENST00000507065.1_Missense_Mutation_p.G61E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458000													4	41					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174013	149174013	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149174013C>A	ENST00000340622.3	-	6	1118	c.838_splice	c.e6+1	p.D280_splice	ZNF746_ENST00000458143.2_Splice_Site_p.A280_splice			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	280					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCACCTGTACCTTCCGTGGAG	0.612000													11	227					0.000219431	0.000240782	1	1	0
ARRB1	408	broad.mit.edu	37	11	74989755	74989755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74989755C>A	ENST00000420843.2	-	8	613	c.516G>T	c.(514-516)caG>caT	p.Q172H	ARRB1_ENST00000360025.3_Missense_Mutation_p.Q172H|ARRB1_ENST00000393505.4_Missense_Mutation_p.Q172H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	172					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGGGGCATACTGAACCTTCC	0.597000													19	158					2.94398e-08	3.51695e-08	1	1	0
CORT	1325	broad.mit.edu	37	1	10510198	10510198	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10510198A>G	ENST00000320498.4	+	1	228	c.68A>G	c.(67-69)cAa>cGa	p.Q23R	APITD1_ENST00000602296.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000377049.3_5'UTR					cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAGACCCAAGTCCCCAAA	0.527000													6	145					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043323	119043323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043323G>A	ENST00000334464.5	-	5	3160	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTGTCTGACGTGTTGGGTGT	0.458000													114	209					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644869	82644869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644869C>A	ENST00000533655.1	+	6	2701	c.2489C>A	c.(2488-2490)cCt>cAt	p.P830H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P529H|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.P830H|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	830					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATAAAAACACCTAGCCAGAAA	0.373000													8	31					0.000274275	0.000298791	1	1	0
MUC17	140453	broad.mit.edu	37	7	100680859	100680859	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100680859G>A	ENST00000306151.4	+	3	6226	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2054	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACTACGCTTGTGGTCA	0.493000													94	59					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125579376	125579376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125579376G>A	ENST00000518547.1	-	8	1135	c.662C>T	c.(661-663)aCc>aTc	p.T221I	MTSS1_ENST00000431961.2_Missense_Mutation_p.T21I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.T221I|MTSS1_ENST00000524090.1_Missense_Mutation_p.T111I|MTSS1_ENST00000354184.4_Missense_Mutation_p.T21I|MTSS1_ENST00000325064.5_Missense_Mutation_p.T225I	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	221	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCCGAGATGGTCTGAAGGTG	0.443000													30	59					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407072	50407072	+	Silent	SNP	G	G	A	rs149008635	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50407072G>A	ENST00000217086.4	-	2	2061	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	650					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552000													8	34					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57988041	57988041	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57988041C>A	ENST00000343280.4	-	2	294		c.e2-1		ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000425074.3_Splice_Site|AC004076.9_ENST00000415705.3_Splice_Site|ZNF772_ENST00000356584.3_Splice_Site|AC004076.9_ENST00000596831.1_Splice_Site|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Splice_Site	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCATGGGAACCTGTGGGGAAG	0.527000													11	19					0.000151284	0.000166931	1	1	0
TERF2	7014	broad.mit.edu	37	16	69400902	69400902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69400902G>A	ENST00000254942.3	-	7	1164	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	TERF2_ENST00000603068.1_Missense_Mutation_p.P341L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	341					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				ACCGTCAGCCGGGGCTGAACT	0.537000													12	63					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28847958	28847958	+	Nonsense_Mutation	SNP	C	C	T	rs145118329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28847958C>T	ENST00000422425.2	+	49	3573	c.3529C>T	c.(3529-3531)Cga>Tga	p.R1177*	PLB1_ENST00000327757.5_Nonsense_Mutation_p.R1188*|PLB1_ENST00000541605.1_Nonsense_Mutation_p.R153*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1188	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGGTAGAGCGAATGAAAAA	0.637000													28	39					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268879	28268879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268879G>A	ENST00000405948.2	+	7	1668	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PGBD1_ENST00000259883.3_Silent_p.K416K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	416					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCGAAAAGTTGAACCCAG	0.353000													7	113					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204072	100204072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100204072T>C	ENST00000355295.4	+	6	1065	c.770T>C	c.(769-771)cTt>cCt	p.L257P	TDRD7_ENST00000422139.2_Missense_Mutation_p.L183P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	257	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATATCTAAGCTTCCACATTTT	0.343000													33	52					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344668	42344668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42344668C>T	ENST00000217026.4	+	14	2171	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MYBL2_ENST00000396863.4_Missense_Mutation_p.R658W	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAAAGCCCGGCAGCTCCT	0.612000													54	93					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9912767	9912767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9912767C>T	ENST00000380913.3	+	9	4488	c.4398C>T	c.(4396-4398)acC>acT	p.T1466T	SHROOM2_ENST00000418909.2_Silent_p.T301T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGCCAACACCGTGCTGGGGG	0.632000													3	29					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10151675	10151675	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10151675T>G	ENST00000428126.2	-	3	294	c.25A>C	c.(25-27)Acc>Ccc	p.T9P	CLEC1B_ENST00000348658.4_Missense_Mutation_p.T9P|CLEC1B_ENST00000298527.6_Missense_Mutation_p.T9P			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	9					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATATTTAAGGTGATGTATCCA	0.363000													13	190					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38840057	38840057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38840057G>A	ENST00000302495.4	+	7	1255	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	385	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCTGCAAATGCTGTCCCTCA	0.413000													47	62					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447227	17447227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17447227C>A	ENST00000400588.1	-	6	1158	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	351										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAATGCTGTCTGACAGGCCC	0.527000													7	18					0.0293803	0.0301098	1	1	0
BTN3A3	10384	broad.mit.edu	37	6	26451903	26451903	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26451903C>T	ENST00000244519.2	+	11	1262	c.1018_splice	c.e11-1	p.A340_splice	BTN3A3_ENST00000339789.4_Splice_Site_p.A298_splice|BTN3A3_ENST00000361232.3_Splice_Site_p.A291_splice	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	340	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTCTCTGCAGCGGATGTGATT	0.562000													10	13					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43963669	43963669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43963669C>T	ENST00000352133.2	+	8	1669	c.687C>T	c.(685-687)atC>atT	p.I229I	SLC37A1_ENST00000398341.3_Silent_p.I229I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	229					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTGGAGCCATCGTGGCAGCCA	0.597000													10	115					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20925444	20925444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20925444A>G	ENST00000216714.3	+	5	1002	c.734A>G	c.(733-735)cAg>cGg	p.Q245R	APEX1_ENST00000398030.4_Missense_Mutation_p.Q245R|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000555414.1_Missense_Mutation_p.Q245R	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	245					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTACTGCAGGCTGTGCCA	0.498000								Other BER factors					30	54					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203045491	203045491	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203045491A>G	ENST00000367240.2	+	29	4061	c.3534A>G	c.(3532-3534)ggA>ggG	p.G1178G	PPFIA4_ENST00000272198.6_Silent_p.G693G|PPFIA4_ENST00000295706.4_Silent_p.G684G|PPFIA4_ENST00000447715.2_Silent_p.G1177G|PPFIA4_ENST00000599966.1_Silent_p.G684G|PPFIA4_ENST00000594572.1_Intron|PPFIA4_ENST00000414050.2_Silent_p.G906G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	693					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTCTACGGACACATGCTCT	0.602000													36	53					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734933	31734933	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734933A>G	ENST00000375686.3	-	13	2120		c.e13+1		VWA7_ENST00000375688.4_Splice_Site|VWA7_ENST00000467576.1_Splice_Site|VWA7_ENST00000447450.1_Splice_Site	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7							extracellular region											GAATAAATGTACCTGCAACTG	0.428000													3	9					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606006	98606006	+	Missense_Mutation	SNP	G	G	T	rs141778269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98606006G>T	ENST00000359863.4	+	69	10927	c.10718G>T	c.(10717-10719)cGg>cTg	p.R3573L	TRRAP_ENST00000355540.3_Missense_Mutation_p.R3544L|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3562L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3573	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTGCCCCGGGTTGTGGCA	0.627000													7	110					3.09899e-07	3.63227e-07	1	1	0
CEP128	145508	broad.mit.edu	37	14	81307033	81307033	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81307033T>G	ENST00000555265.1	-	10	1217	c.842A>C	c.(841-843)aAg>aCg	p.K281T	CEP128_ENST00000216517.6_Missense_Mutation_p.K281T|CEP128_ENST00000281129.3_Missense_Mutation_p.K281T			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	281						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTTGATTCTTCTCAGTTTC	0.373000													44	77					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112645010G>T	ENST00000393104.2	+	6	768		c.e6-1		PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Splice_Site	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328000													45	86					1.23103e-26	1.64014e-26	1	1	0
FBLN7	129804	broad.mit.edu	37	2	112942849	112942849	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942849T>G	ENST00000331203.2	+	7	1151	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	FBLN7_ENST00000409450.3_Missense_Mutation_p.F248V|FBLN7_ENST00000409903.1_Missense_Mutation_p.F294V|FBLN7_ENST00000409667.3_Missense_Mutation_p.F160V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	294	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGGTGGAAGCTTCCAGTGTGT	0.587000													46	38					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161421	185161421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185161421C>A	ENST00000265026.3	+	4	1182	c.848C>A	c.(847-849)cCt>cAt	p.P283H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P76H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P139H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P139H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P283H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	283	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCAAATCACCTAAGTGAGTT	0.368000													4	79					0.000602214	0.000649039	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405040	135405040	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405040C>T	ENST00000394143.1	+	5	465	c.174C>T	c.(172-174)tgC>tgT	p.C58C	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.C58C|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	58					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACAGCATGCATTGATCTGG	0.418000													9	126					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061576	12061576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:12061576T>C	ENST00000053243.1	+	3	645	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.C94R	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	143					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CTCTGACCATTGCTTTCCACT	0.502000			T	IL2	intestinal T-cell lymphoma								15	53					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731549	16731549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16731549G>A	ENST00000335496.1	-	8	1206	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Nonsense_Mutation_p.Q219*	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCAGGCTCTGTGCATCCACC	0.552000													5	44					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156549115	156549115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156549115C>A	ENST00000353442.4	-	9	965	c.729G>T	c.(727-729)gaG>gaT	p.E243D	LMBR1_ENST00000354505.4_Missense_Mutation_p.E243D|LMBR1_ENST00000540390.1_Missense_Mutation_p.E222D|LMBR1_ENST00000359422.4_Missense_Mutation_p.E91D	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	243						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGCTTCTTCCTCTAAGGTAA	0.269000													25	107					2.48779e-11	3.09936e-11	1	1	0
EOGT	285203	broad.mit.edu	37	3	69053624	69053624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69053624C>T	ENST00000383701.3	-	8	1267	c.525G>A	c.(523-525)gaG>gaA	p.E175E	EOGT_ENST00000295571.5_Silent_p.E175E|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.E74E	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GGAAAAAGTCCTCCTTAAATC	0.418000													19	23					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781701	52781701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52781701G>A	ENST00000245457.5	+	1	589	c.435G>A	c.(433-435)caG>caA	p.Q145Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	145						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTTCTACCAGCGCCGCGTCT	0.642000													27	47					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849436	72849436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72849436G>A	ENST00000344575.3	+	1	1328	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	367					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCTGCCCGCGCTCAAGAC	0.657000													11	38					0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44283614	44283614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44283614G>A	ENST00000398208.2	-	4	448	c.389C>T	c.(388-390)tCg>tTg	p.S130L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.S130L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	130					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCAGCACCGAAAAGGAGTA	0.592000													14	24					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4493049	4493049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4493049G>A	ENST00000262375.6	+	6	892	c.815G>A	c.(814-816)cGt>cAt	p.R272H	DNAJA3_ENST00000431375.2_Missense_Mutation_p.R119H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.R272H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	272					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGTGATGCGTTCCACGTGT	0.502000													21	38					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176404	142176404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142176404C>T	ENST00000519811.1	+	12	1739	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q425*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.Q477*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	477										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAACCTGCAGGACATTGC	0.642000													10	114					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107301375	107301375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107301375G>T	ENST00000415430.3	+	2	318	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	VSIG1_ENST00000217957.5_Nonsense_Mutation_p.E53*	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	53	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGCCTCCCGAGAACAGCTTTC	0.468000													27	47					3.73148e-12	4.68205e-12	1	1	0
SMC4	10051	broad.mit.edu	37	3	160149499	160149499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160149499G>T	ENST00000357388.3	+	21	3634	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	SMC4_ENST00000360111.2_Missense_Mutation_p.E1003D|SMC4_ENST00000469762.1_Missense_Mutation_p.E1036D|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1061D|SMC4_ENST00000462787.1_Missense_Mutation_p.E1003D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1061					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAGCCCAGAGGATCTTGAAG	0.388000													5	65					0.000602214	0.000649039	1	1	0
MUC4	4585	broad.mit.edu	37	3	195516511	195516511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195516511T>C	ENST00000463781.3	-	2	2399	c.1940A>G	c.(1939-1941)cAa>cGa	p.Q647R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q647R|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	652					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGATTCTTGTGTGGTCTG	0.532000													57	93					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274083	51274083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274083G>A	ENST00000270590.4	+	1	363	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	76						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCACGCACGGTCTCCACCGT	0.572000													15	27					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738000	236738000	+	Silent	SNP	G	G	A	rs145524497		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236738000G>A	ENST00000366582.3	-	23	3402	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1096					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCATTCCCGCGTAAAGTTCCT	0.383000													57	52					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9536300	9536300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9536300G>A	ENST00000352665.5	+	10	1339	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR16_ENST00000299764.5_Missense_Mutation_p.A434T|WDR16_ENST00000396219.3_Missense_Mutation_p.A356T|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	424						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCGCCATCGCCACCACCAG	0.512000													5	50					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47736634	47736634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47736634G>A	ENST00000371828.3	-	9	1260	c.773C>T	c.(772-774)aCg>aTg	p.T258M	STAU1_ENST00000340954.7_Missense_Mutation_p.T252M|STAU1_ENST00000347458.5_Missense_Mutation_p.T252M|STAU1_ENST00000371856.2_Missense_Mutation_p.T333M|STAU1_ENST00000371792.1_Missense_Mutation_p.T250M|STAU1_ENST00000360426.4_Missense_Mutation_p.T252M|STAU1_ENST00000371802.1_Missense_Mutation_p.T258M	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	333						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTGGTGCCCGTTCCTTCTGC	0.527000													4	37					0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47834233	47834233	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47834233C>T	ENST00000371873.5	+	2	413	c.264C>T	c.(262-264)taC>taT	p.Y88Y	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	56					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTGAAAAGTACATTAAAGAAG	0.403000													20	44					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7015617	7015617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7015617G>A	ENST00000007969.8	+	4	501	c.281G>A	c.(280-282)cGc>cAc	p.R94H	LRRC23_ENST00000436789.1_Missense_Mutation_p.R94H|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000323702.5_Missense_Mutation_p.R94H|LRRC23_ENST00000443597.2_Missense_Mutation_p.R94H|LRRC23_ENST00000429740.1_Missense_Mutation_p.R94H|LRRC23_ENST00000433346.1_Missense_Mutation_p.R94H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	94										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATCCATCTGCGCTATGTGGAT	0.527000													206	245					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836181	247836181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836181G>A	ENST00000359688.2	-	1	184	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACATGGGCGTATGCAAG	0.423000													26	19					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57887151	57887151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57887151G>A	ENST00000381227.1	+	18	2823	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	POLR2B_ENST00000314595.5_Missense_Mutation_p.G804S|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797S|POLR2B_ENST00000431623.2_Missense_Mutation_p.G729S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G804S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGACCGCGGCTTCTTCAG	0.348000													26	54					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67985893	67985893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67985893A>C	ENST00000178640.5	+	15	1586	c.959A>C	c.(958-960)aAt>aCt	p.N320T	MAP2K5_ENST00000354498.5_Missense_Mutation_p.N284T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.N130T|MAP2K5_ENST00000395476.2_Missense_Mutation_p.N320T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	320	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTTGGAACAAATGCTTATATG	0.294000													6	54					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873728	35873728	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35873728T>A	ENST00000303115.3	+	5	813	c.684T>A	c.(682-684)acT>acA	p.T228T	IL7R_ENST00000506850.1_Silent_p.T228T|IL7R_ENST00000343305.4_Silent_p.T228T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	228					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTCAGAACTCCAGAGATCA	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						10	88					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475470	32475470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32475470C>T	ENST00000404025.2	-	5	1951	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.S488N|NLRC4_ENST00000360906.5_Missense_Mutation_p.S488N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	488					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCAGGCTGCTATAAGTGGA	0.512000													19	37					0	0	1	0	0
CHRNA3	0	broad.mit.edu	37	15	78893832	78893832	+	Silent	SNP	G	G	A	rs76643872		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78893832G>A	ENST00000326828.5	-	5	1536	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	CHRNA3_ENST00000348639.3_Silent_p.S384S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	384					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTGCGCGGCTGAAGCAAT	0.567000													33	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583670	179583670	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179583670G>T	ENST00000589042.1	-	84	24481	c.24257C>A	c.(24256-24258)tCt>tAt	p.S8086Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6842Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S7769Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7769	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCCACAGAATCAGGGGT	0.468000													11	10					2.80697e-09	3.39963e-09	1	1	0
EI24	9538	broad.mit.edu	37	11	125452284	125452284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125452284C>T	ENST00000343678.4	+	9	958	c.716C>T	c.(715-717)gCg>gTg	p.A239V	EI24_ENST00000530985.1_3'UTR|EI24_ENST00000278903.6_Silent_p.S276S|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	94					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCATTATCAGCGCCAATGAAG	0.368000													3	5					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40823961	40823961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40823961C>T	ENST00000295974.8	-	17	2665	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	APBB2_ENST00000543538.1_Missense_Mutation_p.R131H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.R131H|APBB2_ENST00000513140.1_Missense_Mutation_p.R657H|APBB2_ENST00000502841.1_Missense_Mutation_p.R131H|APBB2_ENST00000508593.1_Missense_Mutation_p.R680H|APBB2_ENST00000506352.1_Missense_Mutation_p.R658H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	679	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCACTCAAAGCGCTGGTTCCC	0.552000													22	30					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	rs151027172	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552000													19	28					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258711	86258711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86258711G>A	ENST00000263857.6	-	30	4698	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	POLR1A_ENST00000409681.1_Silent_p.N1440N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						cttcatcgtcgttctcctcgc	0.557000													25	31					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671556	131671556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131671556G>A	ENST00000259324.5	+	3	2636	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	LRRC8A_ENST00000372599.3_Missense_Mutation_p.G705S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.G705S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	705					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCCGACATCGGCCTCCTGCA	0.642000													24	25					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83826058	83826058	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83826058G>A	ENST00000302236.5	+	2	301	c.250G>A	c.(250-252)Gct>Act	p.A84T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	84							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAAAAAGGAGCTGTGCCTTC	0.353000													29	48					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220971352	220971352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220971352C>T	ENST00000366910.5	+	4	935	c.749C>T	c.(748-750)gCa>gTa	p.A250V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	250	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GATGTCTATGCAGAGGTAACA	0.428000													10	204					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148579097	148579097	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148579097A>T	ENST00000322396.6	-	8	1418	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	PRMT10_ENST00000541232.1_Silent_p.P279P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	392						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAATCTTATCAGGCTTTTTAG	0.328000													5	18					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	2945784	2945784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2945784A>C	ENST00000216877.6	+	5	751	c.351A>C	c.(349-351)agA>agC	p.R117S	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000356147.3_Missense_Mutation_p.R117S|PTPRA_ENST00000380393.3_Missense_Mutation_p.R117S|PTPRA_ENST00000425918.2_Missense_Mutation_p.R128S|PTPRA_ENST00000399903.2_Missense_Mutation_p.R117S|PTPRA_ENST00000318266.5_Missense_Mutation_p.R117S	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	117					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGATGCCAGAACAGAACCCT	0.468000													33	54					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202254547	202254547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202254547C>A	ENST00000332624.3	-	11	1598	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	390	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAAGATTCCTCATCCAAAC	0.368000													7	158					0.00448238	0.00472561	1	1	0
APBB1	322	broad.mit.edu	37	11	6432274	6432274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432274C>T	ENST00000389906.2	-	2	403	c.304G>A	c.(304-306)Gag>Aag	p.E102K	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E102K|APBB1_ENST00000311051.3_Missense_Mutation_p.E102K	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	102					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCTCAGGCTCCTGGCTGGCC	0.637000													23	296					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18954256	18954256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18954256G>A	ENST00000379942.4	-	11	1719	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	352					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGGCCTCTCGGTATTCTTGG	0.527000													6	15					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943842	204943842	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204943842C>T	ENST00000367172.4	+	14	1777	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	NFASC_ENST00000403080.1_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000367170.4_Silent_p.N483N			O94856	NFASC_HUMAN	neurofascin	483	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512000													51	74					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822147	97822147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822147G>T	ENST00000297293.5	+	11	2663	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	790					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TAAGCACAAAGGGTGACGATA	0.453000													12	157					2.32078e-09	2.82054e-09	1	1	0
SPIN1	10927	broad.mit.edu	37	9	91077536	91077536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91077536T>C	ENST00000375859.3	+	4	505	c.227T>C	c.(226-228)gTt>gCt	p.V76A	SPIN1_ENST00000541629.1_Missense_Mutation_p.V76A|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	76					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAAGGAACCGTTCTGGACCAG	0.458000													3	40					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52186962	52186962	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52186962A>C	ENST00000395718.2	+	11	1475	c.1190A>C	c.(1189-1191)gAc>gCc	p.D397A	FRMD6_ENST00000344768.5_Missense_Mutation_p.D405A|FRMD6_ENST00000554167.1_Missense_Mutation_p.D328A|FRMD6_ENST00000553556.1_Missense_Mutation_p.D47A|FRMD6_ENST00000356218.4_Missense_Mutation_p.D397A	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	405						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAGCCCCGGGACACGGGGCCA	0.617000													3	43					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227239	39227239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227239C>T	ENST00000340369.3	-	2	3926	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1233							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642000													11	22					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004796	74004796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74004796C>T	ENST00000301607.3	-	22	4743	c.4490G>A	c.(4489-4491)cGg>cAg	p.R1497Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1519Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGCACTCCCGATTCAGCTC	0.582000													42	73					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70555435	70555435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70555435C>A	ENST00000310961.5	+	25	4656	c.4238C>A	c.(4237-4239)cCt>cAt	p.P1413H	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1455H|LRRC7_ENST00000415775.2_Missense_Mutation_p.P739H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1455						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAAAGAATCCTGGCCTTGGA	0.294000													5	54					1.06961e-07	1.26574e-07	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111134982	111134982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134982C>A	ENST00000360467.5	+	32	3184	c.2878C>A	c.(2878-2880)Ctg>Atg	p.L960M		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	960	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTGAAGGGTCTGGCTGGTGA	0.522000													4	68					1	1	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245552	166245552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166245552T>C	ENST00000357398.3	+	27	5526	c.5236T>C	c.(5236-5238)Tgt>Cgt	p.C1746R	SCN2A_ENST00000375437.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000375427.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000283256.6_Missense_Mutation_p.C1746R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1746					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAAGGAGACTGTGGGAACCC	0.468000													19	153					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158991263	158991263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158991263C>T	ENST00000605860.1	+	10	1032	c.986C>T	c.(985-987)gCt>gTt	p.A329V	UPP2_ENST00000005756.4_Missense_Mutation_p.A272V|UPP2_ENST00000409859.4_Missense_Mutation_p.A329V|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	272					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTTCTAGCTGCTGTGGTCTGT	0.468000													7	50					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43757796	43757796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43757796G>A	ENST00000270077.3	-	6	1342	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PSG9_ENST00000291752.5_Missense_Mutation_p.P230S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.P323S|PSG9_ENST00000443718.3_Missense_Mutation_p.P323S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	416					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ccatggcagggacctgattga	0.463000													21	44					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648805	101648805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101648805C>A	ENST00000409318.1	-	11	1991	c.1861G>T	c.(1861-1863)Gag>Tag	p.E621*	TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.E606*	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	606	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTTCCTCCTCCTTGGTGTAC	0.567000													9	17					9.70103e-10	1.18443e-09	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33157138	33157138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33157138C>T	ENST00000341947.2	-	2	418	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	COL11A2_ENST00000374714.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R64Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R64Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	64	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGGCAGGTCGTGCCACTCG	0.632000													17	32					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030072	110030072	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110030072C>T	ENST00000453089.2	+	3	1793	c.912C>T	c.(910-912)gaC>gaT	p.D304D	ZC3H12C_ENST00000528673.1_Silent_p.D336D|ZC3H12C_ENST00000278590.3_Silent_p.D335D			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	335							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGTGCTATGACGACAGGTTCA	0.473000													8	12					0	0	1	0	0
NOSIP	0	broad.mit.edu	37	19	50062189	50062189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50062189G>A	ENST00000391853.3	-	5	374	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	NOSIP_ENST00000596358.1_Silent_p.L75L|NOSIP_ENST00000339093.3_Silent_p.L75L	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	75	U-box-like.				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGTGCAGAATGTACTCC	0.572000													31	366					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170537695	170537695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170537695G>T	ENST00000447353.1	-	2	221	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TACTTTGCTAGGTAGAAGAGG	0.383000													5	40					3.59834e-05	4.01776e-05	1	1	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394564	39394564	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39394564G>C	ENST00000254072.6	+	1	268	c.261G>C	c.(259-261)ggG>ggC	p.G87G		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	87	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGGTCCAGCTGTG	0.612000													4	53					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31617984C>T	ENST00000409210.1	+	6	1014	c.830C>T	c.(829-831)aCt>aTt	p.T277I	CCDC129_ENST00000451887.2_Missense_Mutation_p.T395I|CCDC129_ENST00000407970.3_Missense_Mutation_p.T369I|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517000													23	28					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266537	42266537	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42266537C>T	ENST00000319511.6	+	2	773	c.123C>T	c.(121-123)agC>agT	p.S41S	TMUB2_ENST00000538716.2_Silent_p.S61S|TMUB2_ENST00000357984.3_Silent_p.S41S|TMUB2_ENST00000587989.1_Silent_p.S61S|TMUB2_ENST00000446571.3_Silent_p.S41S|TMUB2_ENST00000592825.1_Silent_p.S41S|TMUB2_ENST00000589856.1_Silent_p.S41S|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Silent_p.S41S|TMUB2_ENST00000590235.1_Silent_p.S41S|TMUB2_ENST00000589785.1_Silent_p.S41S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	61						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGACAGCGGTAGCAACC	0.597000													24	56					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916612	144916612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144916612C>A	ENST00000529945.1	-	9	2671	c.2232G>T	c.(2230-2232)caG>caT	p.Q744H	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q647H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q368H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q581H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	581					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGTAACTGCTGAATGATAC	0.413000			T	PDGFRB	MPD								20	1142					6.72482e-11	8.32712e-11	1	1	0
GAREM	64762	broad.mit.edu	37	18	29867539	29867539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867539G>A	ENST00000399218.4	-	4	1076	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	GAREM_ENST00000269209.6_Missense_Mutation_p.R341W|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CGGACAGCCCGTGAATACTCA	0.552000													25	38					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148756915	148756915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148756915G>A	ENST00000310053.5	-	23	2910	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I	HLTF_ENST00000494055.1_Missense_Mutation_p.T906I|HLTF_ENST00000465259.1_Missense_Mutation_p.T905I|HLTF_ENST00000392912.2_Missense_Mutation_p.T906I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	906	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGCATTATAGTTGGAGATCC	0.393000													16	42					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138256110	138256110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138256110A>G	ENST00000264982.3	-	7	811	c.545T>C	c.(544-546)tTa>tCa	p.L182S	CEP70_ENST00000489254.1_Missense_Mutation_p.L30S|CEP70_ENST00000484888.1_Missense_Mutation_p.L182S|CEP70_ENST00000481834.1_Missense_Mutation_p.L182S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.L182S|CEP70_ENST00000542237.1_Missense_Mutation_p.L162S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	182					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTCCTTTTTTAATCTACAGAC	0.358000													31	29					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423597	88423597	+	Silent	SNP	G	G	A	rs147171457	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88423597G>A	ENST00000297203.2	-	2	845	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	220										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGAATTCTTCGGATTTGCACA	0.433000													26	77					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728341	104728341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104728341C>T	ENST00000372582.1	+	6	1490	c.734C>T	c.(733-735)cCc>cTc	p.P245L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P245L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	245	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATTGTTCCCCATGGAGAAT	0.408000													32	54					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123783855	123783855	+	Missense_Mutation	SNP	G	G	A	rs148822412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123783855G>A	ENST00000223642.1	-	11	1263	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATCAACACGTGTTACACTT	0.438000													37	45					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20130200	20130200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20130200C>T	ENST00000345530.3	-	26	3226	c.3111G>A	c.(3109-3111)caG>caA	p.Q1037Q	WDR35_ENST00000416055.2_Silent_p.Q510Q|WDR35_ENST00000281405.4_Silent_p.Q1026Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1037										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGCCTCTGTGCAAGTA	0.438000													71	103					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128630769	128630769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128630769C>A	ENST00000371122.4	-	12	1713	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E528D|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E528D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	528	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTCGACAATACTCATAACCAC	0.383000													14	107					1.3612e-06	1.57881e-06	1	1	0
EFCAB7	84455	broad.mit.edu	37	1	64027519	64027519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64027519G>T	ENST00000371088.4	+	11	1734	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	496							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGCTCTGGAGTTGACAGAGG	0.348000													5	41					1	1	1	1	0
TLE3	7090	broad.mit.edu	37	15	70350628	70350628	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70350628G>A	ENST00000558939.1	-	12	2298	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TLE3_ENST00000442299.2_Silent_p.N307N|TLE3_ENST00000558379.1_Silent_p.N307N|TLE3_ENST00000451782.2_Silent_p.N307N|TLE3_ENST00000560589.1_Silent_p.N251N|TLE3_ENST00000559048.1_Silent_p.N312N|TLE3_ENST00000559929.1_Silent_p.N317N|TLE3_ENST00000557997.1_Silent_p.N307N|TLE3_ENST00000317509.8_Silent_p.N307N|TLE3_ENST00000539550.1_Silent_p.N251N|TLE3_ENST00000558201.1_Silent_p.N313N|TLE3_ENST00000560939.1_Silent_p.N312N|TLE3_ENST00000440567.3_Silent_p.N300N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Silent_p.N307N			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	307	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGATTTGTCGTTCTGAAGAG	0.617000													43	84					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942222	75942222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942222C>T	ENST00000308527.5	+	1	1976	c.779C>T	c.(778-780)gCc>gTc	p.A260V		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	260	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACCCATGCTGCCTCACCCGTC	0.547000													12	126					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588261	28588261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588261G>A	ENST00000434452.1	-	10	1648	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DSC3_ENST00000360428.4_Silent_p.P498P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	498	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTATTTTCGGGGTCATATG	0.363000													20	25					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43432538	43432538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43432538T>C	ENST00000282041.5	-	44	7668	c.7634A>G	c.(7633-7635)cAa>cGa	p.Q2545R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2545					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTTATAAATTGGGTGGCTTG	0.428000													4	73					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149435686	149435686	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149435686C>T	ENST00000286301.3	-	19	2748	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	819	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCACTTCACAGGCAGGC	0.592000													13	12					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915861	40915861	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40915861A>G	ENST00000346991.5	+	11	3867	c.3477A>G	c.(3475-3477)acA>acG	p.T1159T	CASC5_ENST00000399668.2_Silent_p.T1133T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1159	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAGTCACACAACTGCCTTAG	0.428000													23	37					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321740	109321740	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109321740T>A	ENST00000436639.2	-	4	1428	c.683A>T	c.(682-684)aAa>aTa	p.K228I	SESN1_ENST00000356644.7_Missense_Mutation_p.K169I|SESN1_ENST00000302071.2_Missense_Mutation_p.K103I	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	169					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGCTAACACTTTGTTAAGTTC	0.403000													14	77					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100615566	100615566	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100615566C>A	ENST00000308731.7	-	8	929	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	BTK_ENST00000372880.1_Missense_Mutation_p.D256Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	256	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATTTTTATCTCGTGCTCTC	0.483000									Agammaglobulinemia, X-linked				11	93					2.27111e-07	2.66951e-07	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151105842	151105842	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151105842G>A	ENST00000341697.3	-	19	3602	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	637						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGATGTCCTTGCCCCGACGTC	0.721000													12	6					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139734114	139734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139734114G>T	ENST00000263549.3	-	8	2215	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	448	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCATAGACCAGGTTTTTCTGA	0.408000													17	9					1.00905e-13	1.28195e-13	1	1	0
REC8	9985	broad.mit.edu	37	14	24647340	24647340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24647340G>A	ENST00000311457.3	+	13	1504	c.905G>A	c.(904-906)cGc>cAc	p.R302H	REC8_ENST00000559919.1_Missense_Mutation_p.R302H			O95072	REC8_HUMAN	REC8 meiotic recombination protein	303	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CGCCGTCGTCGCCGGTTACTG	0.612000													22	25					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153582583	153582583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582583C>T	ENST00000422373.1	-	33	5717	c.5469G>A	c.(5467-5469)cgG>cgA	p.R1823R	FLNA_ENST00000344736.4_Silent_p.R1791R|FLNA_ENST00000360319.4_Silent_p.R1823R|FLNA_ENST00000369850.3_Silent_p.R1831R|FLNA_ENST00000369856.3_Silent_p.R22R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1831					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGCATACCGCACGGTCA	0.652000													4	52					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100177	102100177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102100177G>A	ENST00000292566.3	-	2	234	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	65						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GGAAGGCCCAGCCCTCAAAGT	0.577000													6	117					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135957742	135957742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135957742G>A	ENST00000562646.1	-	6	698	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RBMX_ENST00000431446.3_Silent_p.L73L|RBMX_ENST00000320676.7_Missense_Mutation_p.P182S|RBMX_ENST00000565438.1_Missense_Mutation_p.P54S|RBMX_ENST00000570135.1_Missense_Mutation_p.P47S			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	182						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGTGATACAGGAGCTTAAGGA	0.388000													38	47					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081036	143081036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081036G>A	ENST00000367603.2	-	9	7131	c.6389C>T	c.(6388-6390)tCt>tTt	p.S2130F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2130F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2130F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2130	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCTAGGAGAGAGGTCTCT	0.463000													22	37					0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58174193	58174193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58174193G>A	ENST00000300209.8	+	3	570	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000548256.1_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	149						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTGGTGCTGGGGGCTGATAT	0.607000													25	32					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459812	186459812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186459812G>A	ENST00000265023.4	+	10	1839	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	543					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGAGAAGACAGAAGGGCCAAC	0.458000													18	34					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129207235	129207235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129207235A>G	ENST00000296266.3	+	17	2332	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	IFT122_ENST00000507564.1_Missense_Mutation_p.K655E|IFT122_ENST00000504021.1_Missense_Mutation_p.K557E|IFT122_ENST00000440957.2_Missense_Mutation_p.K454E|IFT122_ENST00000349441.2_Missense_Mutation_p.K552E|IFT122_ENST00000348417.2_Missense_Mutation_p.K663E|IFT122_ENST00000347300.2_Missense_Mutation_p.K604E|IFT122_ENST00000431818.2_Missense_Mutation_p.K513E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	663					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAAACAGCAAAGAAGGTAAG	0.522000													9	42					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488437	51488437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51488437G>A	ENST00000340438.4	+	1	1957	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	572					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGTAAGACACGACCCCGCTTC	0.428000													27	56					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127477544	127477544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127477544C>T	ENST00000368797.4	-	10	915	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	UROS_ENST00000368786.1_Missense_Mutation_p.A231T	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	231					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCGGCCAGCGCGCGAGCCGTA	0.637000													7	9					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314705	48314705	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48314705G>T	ENST00000435803.1	+	17	5466	c.5442G>T	c.(5440-5442)gaG>gaT	p.E1814D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1814					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTCAGAGGCTTTAGCTT	0.373000													4	28					0.00909568	0.00947522	1	1	0
ZNF44	51710	broad.mit.edu	37	19	12383810	12383810	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383810G>T	ENST00000356109.5	-	5	1522	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ZNF44_ENST00000355684.5_Silent_p.P420P	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCATTCATAGGGTTTCTCTC	0.433000													19	27					1.67942e-08	2.01326e-08	1	1	0
PARP8	79668	broad.mit.edu	37	5	50123879	50123879	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50123879C>A	ENST00000281631.5	+	20	2237	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	PARP8_ENST00000505554.1_Silent_p.T672T|PARP8_ENST00000514067.2_Silent_p.T651T|PARP8_ENST00000505697.2_Silent_p.T693T|PARP8_ENST00000503750.2_Silent_p.T651T|PARP8_ENST00000514342.2_Silent_p.T404T|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	693	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTGGAAGCACCTTTGCATTTC	0.393000													7	71					0.307466	0.308846	1	1	0
KIAA1244	57221	broad.mit.edu	37	6	138576703	138576703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138576703C>A	ENST00000251691.4	+	10	1067	c.901C>A	c.(901-903)Cac>Aac	p.H301N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	301					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGTCTGACCACGGCCGAGG	0.617000													6	60					0.00198382	0.00210581	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20027398	20027398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20027398G>A	ENST00000343769.5	+	3	188	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	ZNF93_ENST00000591366.1_Missense_Mutation_p.A54T|ZNF93_ENST00000592160.1_Missense_Mutation_p.A54T|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A54T(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGACCTGATCGCCCATCTGGA	0.403000													38	55					0	0	1	0	0
PCDHGA7	0	broad.mit.edu	37	5	140764376	140764376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140764376C>T	ENST00000518325.1	+	1	1910	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCCCTCAAGCAG	0.647000													6	22					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781361	5781361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5781361G>T	ENST00000389902.3	-	4	554	c.287C>A	c.(286-288)cCt>cAt	p.P96H	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	64					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGACTTTTTAGGCCTTTCTTC	0.413000													7	201					0.000157383	0.00017284	1	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506796	178506796	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178506796C>A	ENST00000315475.6	+	5	1669	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAAATCTAACCTTTATAGGCA	0.388000													4	75					0.150653	0.152692	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44541424	44541424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44541424C>T	ENST00000436261.1	-	4	1005	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	282					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						ATTTTTACTCCGACTAAAGGC	0.423000													16	14					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870860	45870860	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:45870860A>G	ENST00000185206.6	-	6	1350	c.1198T>C	c.(1198-1200)Tac>Cac	p.Y400H	CLIC5_ENST00000339561.6_Missense_Mutation_p.Y241H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	400	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACATCAGCGTAGGCCAACTCG	0.587000													3	54					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633685	205633685	+	Missense_Mutation	SNP	C	C	T	rs149769508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205633685C>T	ENST00000367145.3	-	2	395	c.100G>A	c.(100-102)Gca>Aca	p.A34T		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	34					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGATGCCTGCGGCCAAACAC	0.592000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								8	114					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	553879	553879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:553879A>G	ENST00000230449.4	-	21	2231	c.2096T>C	c.(2095-2097)aTc>aCc	p.I699T	EXOC2_ENST00000448181.3_Missense_Mutation_p.I294T	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	699					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTTCATGGATACTTCCAAA	0.358000													3	36					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76462158	76462158	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76462158C>T	ENST00000388942.3	+	6	734	c.456_splice	c.e6-1	p.T153_splice		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTTCCTCAGACTGTTCTACGG	0.493000													12	253					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405352	85405352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85405352G>A	ENST00000370608.3	-	9	1061	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R304W	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	332						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACAGGCCGCTTGTACTTC	0.438000													28	71					0	0	1	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24626551	24626551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24626551G>T	ENST00000558468.1	+	7	971	c.971G>T	c.(970-972)cGc>cTc	p.R324L	RNF31_ENST00000382687.3_Missense_Mutation_p.R698L|RNF31_ENST00000324103.6_Missense_Mutation_p.R849L|RNF31_ENST00000559275.1_Missense_Mutation_p.R698L																							AACTGGAAACGCATGAACGAC	0.562000													9	28					0.00448238	0.00472561	1	1	0
SPARCL1	8404	broad.mit.edu	37	4	88412805	88412805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88412805G>A	ENST00000418378.1	-	6	1827	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	SPARCL1_ENST00000282470.6_Missense_Mutation_p.T419M|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294M	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	419			T -> A (in dbSNP:rs1130643).		signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCACTTGACGTTTCCTCCTC	0.398000													27	45					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535395	169535395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169535395C>A	ENST00000449804.2	+	2	677	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FOXI1_ENST00000306268.6_Missense_Mutation_p.P306H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	306					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACTGAGCCCTGAGCCCAGT	0.617000									Pendred syndrome				5	49					0.0381472	0.0390147	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40685224	40685224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40685224C>A	ENST00000342449.3	-	2	129	c.49_splice	c.e2-1	p.E17_splice	BRWD1_ENST00000341322.4_Splice_Site_p.E17_splice|BRWD1_ENST00000333229.2_Splice_Site_p.E17_splice|BRWD1_ENST00000380800.3_Splice_Site_p.E17_splice|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAAGTACAGCTCTGCGGGAA	0.741000													3	4					4.096e-09	4.95403e-09	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33153518	33153518	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33153518T>C	ENST00000341947.2	-	6	1063	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000357486.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000361917.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	279	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACATCATAATAGGGGGGCTC	0.532000													10	61					0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784616	20784616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20784616C>A	ENST00000398169.3	-	5	683	c.67G>T	c.(67-69)Gca>Tca	p.A23S	CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.A23S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	23						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTGACCCATGCATAGCCAGAG	0.473000			T	HMGA2	leiomyoma								5	66					0.0215528	0.0221649	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101654024	101654024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101654024C>T	ENST00000409318.1	-	8	1552	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	TBC1D8_ENST00000376840.4_Silent_p.Q459Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	459					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGCTGCCTGACTGCTGGAAGG	0.597000													29	57					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926698	23926698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23926698G>A	ENST00000402377.3	-	4	1795	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.H483Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTACCTTATGTGTAGCAAGA	0.383000													11	23					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026940	2026940	+	Missense_Mutation	SNP	C	C	T	rs144104874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2026940C>T	ENST00000262113.4	+	12	1529	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle	p.A463V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAACAGTGCGGGCATCAGC	0.537000													8	234					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016709	21016709	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21016709C>T	ENST00000247986.2	-	7	1663	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_ENST00000375044.1_Silent_p.T351T|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.T451T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	451					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.T451T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627000													6	58					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81517878	81517878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81517878G>T	ENST00000394660.2	+	2	498	c.138G>T	c.(136-138)gaG>gaT	p.E46D	IL16_ENST00000302987.4_Missense_Mutation_p.E46D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	46					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCCCTTTGAGATTTCCTTGG	0.522000													18	42					8.28177e-16	1.06505e-15	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33501965	33501965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501965G>A	ENST00000360596.2	+	6	921	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	ACSS2_ENST00000336325.4_Missense_Mutation_p.C187Y|ACSS2_ENST00000253382.5_Missense_Mutation_p.C237Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	237					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCAGAAGTGTCAGGAGAAG	0.532000													6	23					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149718775	149718775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149718775C>T	ENST00000367456.1	+	5	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000538427.1_Missense_Mutation_p.L547F|TAB2_ENST00000536230.1_Missense_Mutation_p.L515F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	547					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373000													90	158					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236917269	236917269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236917269G>A	ENST00000366578.4	+	16	2028	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ACTN2_ENST00000546208.1_Missense_Mutation_p.R115H|ACTN2_ENST00000542672.1_Missense_Mutation_p.R621H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	621					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGCCCATCCGCGATCAATCC	0.587000													36	90					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18005549	18005549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:18005549G>A	ENST00000278780.6	-	4	801	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	187					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGAGCAGCGCTGGGTGAAG	0.552000													9	56					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486357	125486357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125486357C>T	ENST00000259466.1	+	1	89	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCTTTGCCATCTTCCTC	0.507000													49	58					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946019	72946019	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946019G>A	ENST00000311131.2	+	3	1282	c.815G>A	c.(814-816)cGc>cAc	p.R272H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R272H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R272H	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACTCCTTCCGCTCGCTGGAC	0.632000													15	21					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18060286	18060286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18060286G>A	ENST00000205890.5	+	49	8958	c.8620G>A	c.(8620-8622)Gct>Act	p.A2874T	MYO15A_ENST00000418233.3_Missense_Mutation_p.A138T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2874	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACGTGGTCGCTGTGAGGAA	0.622000													4	45					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422352	49422352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422352G>A	ENST00000405315.4	+	9	1216	c.882G>A	c.(880-882)ctG>ctA	p.L294L	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.L294L|NUCB1_ENST00000263273.5_Silent_p.L294L	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	294	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGCGACTGCGCATGCGGG	0.607000													8	23					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76695832	76695832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76695832G>A	ENST00000538159.1	+	8	565	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	USO1_ENST00000514213.2_Missense_Mutation_p.V172I			O60763	USO1_HUMAN	USO1 vesicle transport factor	187	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTATAGGGCGTCTTACTACT	0.348000													6	44					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116130	175116130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175116130C>T	ENST00000239462.4	+	19	3936	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGAAAATCCGCCCTCATGG	0.527000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	47					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17759323	17759323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17759323G>A	ENST00000428389.2	-	17	1996	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	UNC13A_ENST00000552293.1_Missense_Mutation_p.A578V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A578V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A576V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A578V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A578V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	578	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCCCTGCCTCGCGATGCCCCA	0.652000													10	15					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48030802	48030802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030802G>A	ENST00000234420.4	+	5	3568	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	MSH6_ENST00000540021.1_Missense_Mutation_p.G1009D|MSH6_ENST00000538136.1_Missense_Mutation_p.G837D|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1139					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGGGGGGCAAGTCTACG	0.378000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				48	65					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114195561	114195561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114195561C>T	ENST00000259335.4	-	9	1333	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	KIAA0368_ENST00000338205.5_Missense_Mutation_p.R267H	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTGGCGTGTATCACT	0.423000													27	27					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133653645	133653645	+	Missense_Mutation	SNP	G	G	A	rs148426132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133653645G>A	ENST00000310926.4	-	14	2117	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A539V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	615					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CATGCCCAGCGCCTTGTAGCC	0.632000													12	23					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13119520G>A	ENST00000319217.7	-	39	5607	c.5360C>T	c.(5359-5361)gCg>gTg	p.A1787V	MPDZ_ENST00000546205.1_Missense_Mutation_p.A1801V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1787V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1787V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1787V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A646V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000541093.1_Missense_Mutation_p.A21V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1754V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388000													13	82					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99860437	99860437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99860437C>T	ENST00000369239.5	-	4	471	c.267G>A	c.(265-267)atG>atA	p.M89I	PNISR_ENST00000438806.1_Missense_Mutation_p.M89I|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	89						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGGTTGCCACATTCTGTTGA	0.323000													25	39					0	0	1	0	0
PTPRB	0	broad.mit.edu	37	12	70981023	70981023	+	Missense_Mutation	SNP	C	C	T	rs3960114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70981023C>T	ENST00000334414.6	-	9	2119	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H	PTPRB_ENST00000538708.1_Missense_Mutation_p.R474H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.R691H|PTPRB_ENST00000550857.1_Missense_Mutation_p.R384H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R692H|PTPRB_ENST00000261266.5_Missense_Mutation_p.R474H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R384H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	474	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTTTGACACGAAGCTGGAG	0.463000													6	35					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106887381	106887381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106887381C>T	ENST00000286398.7	+	18	2734	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.Q816*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.Q816*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	816					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAAGAAAAACAACAGGTAAT	0.373000													38	68					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109368449	109368449	+	Splice_Site	SNP	C	C	T	rs121434502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109368449C>T	ENST00000283195.6	+	12	1880	c.1755_splice	c.e12+1	p.T585_splice		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	585			T -> M (associated with ANE1).		carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCAGAAAACGGTGAGTTTT	0.338000													37	97					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157041083	157041083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157041083G>A	ENST00000348165.5	+	19	2863	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACATGCTGGTGGAGCTGCC	0.473000													35	84					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71876093	71876093	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71876093C>T	ENST00000373545.3	-	10	1357		c.e10-1		PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATTGGGATCCTAGTAAAAAC	0.368000													37	38					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235911	3235911	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3235911G>A	ENST00000217939.6	-	6	5965	c.5811C>T	c.(5809-5811)gaC>gaT	p.D1937D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1937	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCACCATCCTGTCCAGGCCGT	0.537000													6	59					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76868017	76868017	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76868017G>T	ENST00000409709.3	+	7	974	c.702G>T	c.(700-702)caG>caT	p.Q234H	MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234H|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223H|MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATTGAGCAGTACCTGCTGG	0.597000													25	58					7.92952e-12	9.92272e-12	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101396115	101396115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101396115C>A	ENST00000372774.3	-	3	438	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.K63N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCTGGCTTCCCTTATCTTCCA	0.617000													39	73					5.71845e-15	7.32261e-15	1	1	0
TSPAN4	0	broad.mit.edu	37	11	866626	866626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:866626C>T	ENST00000397404.1	+	9	972	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.A204V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A257V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	238					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTACTGCGCGTAGGCCGCC	0.652000													6	12					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41568556	41568556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41568556G>T	ENST00000262415.3	+	4	403	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E111*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTAAAACAGAAAAAGAAAA	0.318000													23	32					3.73988e-18	4.86822e-18	1	1	0
TBC1D14	57533	broad.mit.edu	37	4	7026800	7026800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7026800C>T	ENST00000409757.4	+	13	1951	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	TBC1D14_ENST00000446947.2_Silent_p.R256R|TBC1D14_ENST00000410031.1_Silent_p.R381R|TBC1D14_ENST00000448507.1_Silent_p.R609R|TBC1D14_ENST00000451522.2_Silent_p.R329R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	609	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTCTGTCGCGATGGGGAAG	0.507000													68	112					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15554452	15554452	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15554452T>C	ENST00000455584.2	-	1	515	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.S158G|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.S158G																							GTGTGGCCACTGTGCTCCTGG	0.617000													5	45					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35090505	35090505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35090505G>T	ENST00000378617.3	-	8	3206	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	PIGO_ENST00000361778.2_Missense_Mutation_p.L521I|PIGO_ENST00000298004.5_Missense_Mutation_p.L521I|PIGO_ENST00000341666.3_Missense_Mutation_p.L938I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	938				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCCACTAGCAAAGCAGGC	0.557000													13	24					4.36969e-10	5.35656e-10	1	1	0
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770805G>A	ENST00000372476.3	+	2	421	c.342G>A	c.(340-342)acG>acA	p.T114T	TIE1_ENST00000441333.2_Silent_p.T114T|TIE1_ENST00000538015.1_Silent_p.T114T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	114					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCGGCGCACGCGCGTCATCT	0.701000													4	13					0	0	1	0	0
SNURF	8926	broad.mit.edu	37	15	25207266	25207266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25207266G>A	ENST00000338094.6	+	2	81	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7H|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7H	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTCAGGGATCGCTTACACCTG	0.408000													23	34					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926232	135926232	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926232G>A	ENST00000372097.5	+	4	958	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	212						transcription factor TFIIIC complex	DNA binding|protein binding	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587000													20	41					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98992475	98992475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98992475T>C	ENST00000188376.5	+	4	989	c.635T>C	c.(634-636)cTa>cCa	p.L212P	SLC25A3_ENST00000549338.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000401722.3_Missense_Mutation_p.L212P|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L213P|SLC25A3_ENST00000228318.3_Missense_Mutation_p.L213P|SLC25A3_ENST00000552981.1_Missense_Mutation_p.L212P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	213					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGAAGGCCTAAAAGCGTAA	0.338000													4	33					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741651	18741651	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18741651C>A	ENST00000513874.1	-	6	618		c.e6-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTCTTGACCTGAGGATAGA	0.517000													4	58					0.00024832	0.0002712	1	1	0
MSX1	4487	broad.mit.edu	37	4	4864565	4864565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4864565G>A	ENST00000382723.4	+	2	841	c.607G>A	c.(607-609)Gcg>Acg	p.A203T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCCGAGCGCGCGGAGTTCTC	0.627000													24	32					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	3988848	3988848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3988848G>A	ENST00000300737.4	+	2	775	c.206G>A	c.(205-207)cGt>cAt	p.R69H	STIM1_ENST00000527651.1_Missense_Mutation_p.R69H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	69	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGCAGTCCGTAACATCCAC	0.458000													35	49					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	388					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313000													7	49					8.12818e-05	8.99451e-05	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128688327	128688327	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128688327C>T	ENST00000281154.4	+	4	753	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	195					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTACAGGGCATCATTGTGT	0.378000													9	131					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385824	50385824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50385824G>T	ENST00000232501.3	-	8	1176	c.738C>A	c.(736-738)tgC>tgA	p.C246*	NPRL2_ENST00000493465.1_Intron	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	246					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGGGCGTTGGGCAGTATACAT	0.567000													4	41					0.00909568	0.00947522	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	139894901	139894901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139894901C>T	ENST00000458420.3	+	2	408	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	73	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAGATGCACCGGTTCCTTTT	0.478000										HNSCC(16;0.037)			17	22					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41576238	41576238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41576238C>A	ENST00000262415.3	+	10	1381	c.1309C>A	c.(1309-1311)Ctt>Att	p.L437I	DHX8_ENST00000540306.1_Missense_Mutation_p.L437I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	437						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGATGAGGACCTTGAGATTGA	0.388000													14	18					6.31663e-08	7.49729e-08	1	1	0
NELFE	7936	broad.mit.edu	37	6	31922671	31922671	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31922671T>C	ENST00000375429.3	-	7	631		c.e7-2		NELFE_ENST00000375425.5_Splice_Site|NELFE_ENST00000444811.2_Intron	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		GACACAAAGCTGGGGAGATGC	0.542000													5	93					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022390	73022390	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022390T>G	ENST00000263674.3	+	1	3057	c.2707T>G	c.(2707-2709)Ttt>Gtt	p.F903V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	903					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACCGAAACTTTCACCTTGA	0.637000													3	70					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15575099	15575099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15575099C>T	ENST00000343625.6	-	2	151	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	24					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGTGCCAGCGGTAGGAAGT	0.711000													4	7					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65429251	65429251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429251G>T	ENST00000525693.1	-	4	304	c.242C>A	c.(241-243)cCt>cAt	p.P81H	RELA_ENST00000406246.3_Missense_Mutation_p.P81H|RELA_ENST00000308639.9_Missense_Mutation_p.P81H			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	81	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CCGGTGAGGAGGGTCCTTGGT	0.592000													9	45					1.08611e-07	1.2824e-07	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72196994	72196994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72196994A>G	ENST00000555818.1	+	18	5248	c.4900A>G	c.(4900-4902)Acc>Gcc	p.T1634A	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T1088A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1613A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1634					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTCTTACACCTTAGGAAT	0.567000													21	51					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169582345	169582345	+	Missense_Mutation	SNP	C	C	A	rs145985654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169582345C>A	ENST00000263686.6	-	5	634	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SELP_ENST00000367794.2_Missense_Mutation_p.E199D|SELP_ENST00000367793.2_Missense_Mutation_p.E199D|SELP_ENST00000458599.2_Missense_Mutation_p.E199D|SELP_ENST00000367792.2_Missense_Mutation_p.E199D|SELP_ENST00000367791.2_Missense_Mutation_p.E199D|SELP_ENST00000367788.2_Missense_Mutation_p.E199D|SELP_ENST00000367786.2_Missense_Mutation_p.E199D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	199	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCTCCACACTCTCTCACTG	0.443000													21	28					2.39556e-15	3.07139e-15	1	1	0
PLD3	0	broad.mit.edu	37	19	40872796	40872796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40872796C>T	ENST00000409587.1	+	5	616	c.219C>T	c.(217-219)cgC>cgT	p.R73R	PLD3_ENST00000409735.4_Silent_p.R73R|PLD3_ENST00000356508.5_Silent_p.R73R|PLD3_ENST00000409281.1_Silent_p.R73R|PLD3_ENST00000409419.1_Silent_p.R73R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	73					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAACCAGCGCCCAGCCCCCT	0.592000													24	48					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051213	44051213	+	Translation_Start_Site	SNP	G	G	A	rs149418765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051213G>A	ENST00000543989.1	-	0	1683				ABCG5_ENST00000405322.1_Missense_Mutation_p.T217M|ABCG5_ENST00000260645.1_Missense_Mutation_p.T388M			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGAGACGCGTAATCACTGC	0.458000													15	30					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460161	53460161	+	Missense_Mutation	SNP	C	C	A	rs139156601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53460161C>A	ENST00000301463.4	-	10	1217	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E414D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	377	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						cttcctcttcctcctcttcct	0.567000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	52					0.00307968	0.00325696	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73020858	73020858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020858G>A	ENST00000263674.3	+	1	1525	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	392					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGCAGCCGTTATTCCAGC	0.627000													6	52					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129120571	129120571	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129120571C>T	ENST00000505956.1	-	9	1746	c.1584G>A	c.(1582-1584)gcG>gcA	p.A528A	EFCAB12_ENST00000326085.3_Silent_p.A528A	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		AACTGAAGAGCGCCAGGCTCC	0.587000													3	3					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96359553	96359553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96359553C>T	ENST00000266736.2	+	7	1134	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	343					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATTGCTTTTCAATGGTAATT	0.338000													6	59					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100908489	100908489	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100908489G>T	ENST00000370125.2	+	7	944		c.e7-1		CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000469387.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000336454.3_Splice_Site			Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCTTTTAGGGATTACAAC	0.289000													5	85					3.59834e-05	4.01776e-05	1	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611167	127611167	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127611167C>T	ENST00000531967.1	-	6	1274	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Silent_p.P251P|ECHDC1_ENST00000309620.9_Silent_p.P234P|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.P251P|ECHDC1_ENST00000454591.2_Silent_p.P176P|ECHDC1_ENST00000430841.2_Silent_p.P251P|ECHDC1_ENST00000368289.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	257							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAATTACTTCCGGTGGCCCTT	0.398000													49	81					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53890892	53890892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53890892T>C	ENST00000288167.3	+	7	560	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	184					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATCCGAACATCACTGCTTGT	0.453000													4	86					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735840	18735840	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735840G>T	ENST00000513874.1	-	13	1921	c.1782C>A	c.(1780-1782)gcC>gcA	p.A594A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	594										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGAATACAGAGGCTTCACTTT	0.572000													4	38					0.00909568	0.00947522	1	1	0
MC2R	0	broad.mit.edu	37	18	13884765	13884765	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13884765G>A	ENST00000327606.3	-	2	933	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	251			C -> F (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCAGGCGCAGTAGGGGT	0.542000													18	40					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86158064	86158064	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86158064A>T	ENST00000321764.3	+	1	309	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	CA13_ENST00000517298.1_Intron	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	3					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCATGTCGAGGCTCAGCTG	0.662000													51	148					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106841052	106841052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106841052G>A	ENST00000276185.4	+	15	2042	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	681						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCACCACCTGGGAGTgaggag	0.557000													6	3					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183204709	183204709	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183204709G>A	ENST00000264144.4	+	16	2365		c.e16-1		LAMC2_ENST00000493293.1_Splice_Site	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2						cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATCCTTTCAGCCACGTTGAG	0.473000											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804294	27804294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27804294G>A	ENST00000408964.2	+	1	4906	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCCCCGAGAGGAGCTG	0.567000													7	123					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76205769	76205769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76205769G>A	ENST00000370841.4	+	7	1010	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACADM_ENST00000370834.5_Nonsense_Mutation_p.W224*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.W195*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.W155*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.W2*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	191					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGAAGATGTGGATAACCAACG	0.333000													4	97					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169819820	169819820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169819820G>A	ENST00000335742.7	+	14	3259	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	PALLD_ENST00000261509.6_Missense_Mutation_p.M792I|PALLD_ENST00000507735.1_Missense_Mutation_p.M305I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.M410I|PALLD_ENST00000505667.1_Missense_Mutation_p.M809I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1016	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGAGGGAATGCCAGTAACTT	0.428000									Pancreatic Cancer, Familial Clustering of				5	58					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892750	44892750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892750C>T	ENST00000341255.3	-	2	1196	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	229										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCAGGGCTGGCGCTGGACTAG	0.617000													36	59					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803498	142803498	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:142803498G>A	ENST00000423385.1	-	0	1467																											ATTTATTATTGATTTAAAATG	0.313000													5	82					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7669752	7669752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7669752C>A	ENST00000299492.4	+	18	2169	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P451H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P436H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P482H	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	594	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGCCACCCCTCAGGACATG	0.572000													5	105					0.000602214	0.000649039	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325549	31325549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31325549G>A	ENST00000269197.5	+	12	5737	c.5737G>A	c.(5737-5739)Gtt>Att	p.V1913I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTATTTCATGTTGACAAGAA	0.527000													30	82					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2831319	2831319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2831319C>T	ENST00000397885.2	-	6	748	c.542G>A	c.(541-543)cGt>cAt	p.R181H		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338000													18	47					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389587	6389587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6389587G>T	ENST00000394456.5	-	4	658	c.194C>A	c.(193-195)tCg>tAg	p.S65*	GTF2F1_ENST00000429701.2_Nonsense_Mutation_p.S37*|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	65					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCGCGCCCGATTCGGGCAT	0.622000													13	152					1.37285e-15	1.76283e-15	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984681	140984681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140984681G>A	ENST00000298296.1	+	7	1137	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000536088.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000409007.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000443323.2_Start_Codon_SNP_p.M1I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	379	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGATATGCCTGCTGCTG	0.567000													3	2					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942829	112942829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942829G>A	ENST00000331203.2	+	7	1131	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	FBLN7_ENST00000409450.3_Missense_Mutation_p.C241Y|FBLN7_ENST00000409903.1_Missense_Mutation_p.C287Y|FBLN7_ENST00000409667.3_Missense_Mutation_p.C153Y	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGACCACATGCATCAACACC	0.577000													7	87					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984677	33984677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984677G>A	ENST00000382102.3	-	1	69	c.12C>T	c.(10-12)aaC>aaT	p.N4N	SLC45A2_ENST00000342059.3_Silent_p.N4N|SLC45A2_ENST00000345083.5_Silent_p.N4N|SLC45A2_ENST00000296589.4_Silent_p.N4N|SLC45A2_ENST00000509381.1_Silent_p.N4N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	4					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTGCCCACTGTTGCTACCCA	0.572000													20	29					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002275	119002275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119002275C>T	ENST00000350777.2	+	4	505	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.R148W	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	148					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTTTTATCGGCATGTGGA	0.547000													33	62					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641317	15641317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15641317C>T	ENST00000437605.2	+	6	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.R69C|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	69						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACAGCAAAGACGCAAGGAAAG	0.547000													26	40					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102318100	102318100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102318100C>T	ENST00000372728.3	-	3	342	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	35					cell differentiation|nervous system development	cytoplasm|nucleus		p.A35T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAAGGGAGGGCCAAGGGCTCC	0.488000													20	240					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659244	196659244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659244G>T	ENST00000367429.4	+	9	1451	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	CFH_ENST00000439155.2_Missense_Mutation_p.R404I|CFH_ENST00000359637.2_Missense_Mutation_p.R340I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	404	Sushi 7.				complement activation, alternative pathway	extracellular space		p.R404I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353000													6	28					5.9392e-07	6.91975e-07	1	1	0
RP11-385D13.1	0	broad.mit.edu	37	17	15510968	15510968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15510968C>T	ENST00000455584.2	-	12	2125	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	CDRT1_ENST00000395906.3_Silent_p.Q384Q																							TTTCCTCGTTCTGGTATGCAG	0.473000													14	14					0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081861	44081861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081861G>A	ENST00000372014.3	-	3	288	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	53					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CGAGGAGCCCGATGGTATGGG	0.552000													21	234					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133118940	133118940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133118940C>T	ENST00000302334.2	+	1	102	c.13C>T	c.(13-15)Cga>Tga	p.R5*		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	5	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGTGAGAGGCGAGTGGTAGT	0.622000													10	98					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834323	168834323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834323G>T	ENST00000464456.1	-	7	1973	c.773C>A	c.(772-774)cCt>cAt	p.P258H	MECOM_ENST00000472280.1_Missense_Mutation_p.P259H|MECOM_ENST00000468789.1_Missense_Mutation_p.P258H|MECOM_ENST00000460814.1_Missense_Mutation_p.P258H|MECOM_ENST00000433243.2_Missense_Mutation_p.P259H|MECOM_ENST00000392736.3_Missense_Mutation_p.P258H|MECOM_ENST00000264674.3_Missense_Mutation_p.P323H|MECOM_ENST00000494292.1_Missense_Mutation_p.P446H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGGTTCCAGGAAGTGAAAT	0.473000													12	87					3.03607e-14	3.87122e-14	1	1	0
HAVCR1	26762	broad.mit.edu	37	5	156479468	156479468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156479468T>G	ENST00000339252.3	-	3	1109	c.577A>C	c.(577-579)Aca>Cca	p.T193P	HAVCR1_ENST00000425854.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T193P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	188	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTCGTTGTCGTTGGAACG	0.468000													24	352					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53239948	53239948	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53239948T>A	ENST00000452825.3	-	9	1824	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M	KDM5C_ENST00000404049.3_Missense_Mutation_p.K497M|KDM5C_ENST00000375379.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375383.3_Missense_Mutation_p.K457M|KDM5C_ENST00000375401.3_Missense_Mutation_p.K498M	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	498					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.K498R(2)|p.K431R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAGGGCACCTTCATGCCAGA	0.507000			"""N, F, S"""		clear cell renal carcinoma								7	39					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271671	59271671	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59271671C>T	ENST00000313253.1	+	1	623	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGGTCACTACCCTGTGGTTT	0.512000													45	86					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169525279	169525279	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169525279C>A	ENST00000522526.2	-	4	817		c.e4-1		LRRC34_ENST00000316515.7_Splice_Site|LRRC34_ENST00000446859.1_Splice_Site|LRRC34_ENST00000522830.1_Splice_Site|LRRC34_ENST00000524327.1_Splice_Site			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATCCAAACCTGAAGCACAG	0.333000													27	50					1.77063e-15	2.27219e-15	1	1	0
LTBP3	4054	broad.mit.edu	37	11	65320346	65320346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65320346G>A	ENST00000301873.5	-	6	1439	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	LTBP3_ENST00000322147.4_Missense_Mutation_p.R391C|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	391	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACTGTGTACGGGAGGGGCCT	0.602000													4	47					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417729	46417729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417729C>T	ENST00000341294.2	-	1	307	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	75					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GAGGAGTAGACGTGGCGGGAC	0.687000													7	19					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85415995	85415995	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85415995T>G	ENST00000359152.5	-	8	4717	c.4718A>C	c.(4717-4719)aAt>aCt	p.N1573T	SYTL2_ENST00000389958.3_Missense_Mutation_p.N158T|SYTL2_ENST00000316356.4_Missense_Mutation_p.N728T|SYTL2_ENST00000527523.1_Missense_Mutation_p.N695T|SYTL2_ENST00000389960.4_Missense_Mutation_p.N703T|SYTL2_ENST00000524452.1_Missense_Mutation_p.N703T|SYTL2_ENST00000529581.1_Missense_Mutation_p.N169T|SYTL2_ENST00000533892.1_Missense_Mutation_p.N129T|SYTL2_ENST00000528231.1_Missense_Mutation_p.N727T|SYTL2_ENST00000354566.3_Missense_Mutation_p.N1065T|SYTL2_ENST00000525423.1_Missense_Mutation_p.N1049T|SYTL2_ENST00000525702.1_Missense_Mutation_p.N169T	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	727					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGGAAACTATTGCGCTTAAA	0.373000													10	128					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21938056	21938056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21938056G>A	ENST00000542643.2	-	14	1034	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RAP1GAP_ENST00000374763.2_Silent_p.D244D|RAP1GAP_ENST00000374765.4_Silent_p.D244D|RAP1GAP_ENST00000290101.4_Silent_p.D308D|RAP1GAP_ENST00000374761.2_Silent_p.D275D	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	244	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662000													22	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864621	13864621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13864621C>T	ENST00000265104.4	-	28	4585	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1494	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCCAGTGCCGCTCCATCAT	0.478000									Kartagener syndrome				16	29					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126520032	126520032	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126520032G>A	ENST00000373624.2	-	5	453	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000373620.3_Silent_p.F84F|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000394219.3_Silent_p.F52F|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	84	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493000													24	23					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847823	49847823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847823G>A	ENST00000333486.3	-	13	1664	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	502	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGTTCAGGCCCCGGGCAG	0.587000													28	66					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105765513	105765513	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:105765513A>G	ENST00000374798.3	+	3	218	c.148A>G	c.(148-150)Aaa>Gaa	p.K50E	CYLC2_ENST00000487798.1_Missense_Mutation_p.K50E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	50	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGAGATCAAAACCTTCTCA	0.333000													3	80					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98989291	98989291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98989291C>T	ENST00000228318.3	+	3	358	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.H80Y|SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000552981.1_Intron	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	80					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGGCACAACACATACAGCATT	0.393000													44	81					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406017	39406017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406017G>A	ENST00000334109.2	+	1	79	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	15	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGCTGCAGGACCACCTGCT	0.602000													21	45					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377766	19377766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19377766G>A	ENST00000550708.1	+	1	245	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGGGAATGGAGCCATTGCT	0.408000													64	78					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101929663	101929663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101929663C>T	ENST00000434758.2	+	3	273	c.245C>T	c.(244-246)tCt>tTt	p.S82F	C11orf70_ENST00000526781.1_Missense_Mutation_p.S82F|C11orf70_ENST00000534360.1_Missense_Mutation_p.S82F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	82										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTTTCAGATTCTTCTGGACAA	0.249000													15	26					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117456	194117456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194117456C>T	ENST00000401815.1	-	1	1627	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	GP5_ENST00000323007.3_Missense_Mutation_p.S519N			P40197	GPV_HUMAN	glycoprotein V (platelet)	519					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGAACGGACTATGATCTTG	0.522000													12	173					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56501401	56501401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56501401C>T	ENST00000370754.5	-	22	2914	c.2915G>A	c.(2914-2916)tGc>tAc	p.C972Y	DST_ENST00000518935.1_Missense_Mutation_p.C468Y|DST_ENST00000312431.6_Missense_Mutation_p.C794Y|DST_ENST00000370769.4_Missense_Mutation_p.C794Y|DST_ENST00000421834.2_Missense_Mutation_p.C794Y|DST_ENST00000370788.2_Missense_Mutation_p.C794Y|DST_ENST00000244364.6_Missense_Mutation_p.C468Y|DST_ENST00000361203.3_Missense_Mutation_p.C794Y|DST_ENST00000446842.2_Missense_Mutation_p.C468Y|DST_ENST00000370765.6_Missense_Mutation_p.C468Y			Q03001	DYST_HUMAN	dystonin	794					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACACTGGCAGAGCTGTAA	0.443000													4	87					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862245	122862245	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862245G>A	ENST00000358808.2	-	3	502	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CLIP1_ENST00000361654.4_Silent_p.G116G|CLIP1_ENST00000537178.1_Silent_p.G116G|CLIP1_ENST00000540338.1_Silent_p.G116G|CLIP1_ENST00000302528.7_Silent_p.G116G	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGGTAAATATGCCCTTTAAAG	0.507000													32	61					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45810504	45810504	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45810504C>A	ENST00000320560.8	+	17	2236	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	ANO6_ENST00000425752.2_Silent_p.T678T|ANO6_ENST00000423947.3_Silent_p.T699T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.T678T|ANO6_ENST00000441606.2_Silent_p.T660T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	678					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTTCGTCACCTTATTTGTGG	0.443000													12	25					0.0202918	0.0209785	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18385396	18385396	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18385396C>T	ENST00000441493.2	-	4	942		c.e4+1		MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site|MICAL3_ENST00000429452.1_Splice_Site	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTATAACTTACGTTCATTCTC	0.468000													7	8					0	0	1	0	0
TRAV38-2DV8	0	broad.mit.edu	37	14	22749069	22749069	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22749069C>T	ENST00000390465.2	+	0	82																											CACTTGTGATCTCCACCTGTC	0.473000													31	65					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41610054	41610054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41610054C>T	ENST00000319349.5	-	8	1097	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ETV4_ENST00000591713.1_Missense_Mutation_p.A267T|ETV4_ENST00000538265.1_Missense_Mutation_p.A228T|ETV4_ENST00000393664.2_Missense_Mutation_p.A267T|ETV4_ENST00000545954.1_Missense_Mutation_p.A228T|ETV4_ENST00000545089.1_Missense_Mutation_p.A213T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	267					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAGTCGTAGGCGAAGTCCGTC	0.567000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								15	35					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575268	47575268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47575268G>A	ENST00000253048.5	-	13	1950	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	638	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		gtgcatgtccgggtgcatgtc	0.672000													6	2					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523657	100523657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100523657G>A	ENST00000358544.2	+	29	4736	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1517H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1542					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGACATCCCGCAATTTACCT	0.368000													19	17					0	0	1	0	0
IGLV8-61	0	broad.mit.edu	37	22	22453443	22453443	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453443G>T	ENST00000390283.2	+	0	235																											GCTGGTACCAGCAGACCCCAG	0.572000													28	62					9.39395e-14	1.19386e-13	1	1	0
GPBAR1	151306	broad.mit.edu	37	2	219128211	219128211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219128211C>T	ENST00000522678.1	+	2	1632	c.764C>T	c.(763-765)cCg>cTg	p.P255L	GPBAR1_ENST00000521462.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000519574.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000479077.1_Missense_Mutation_p.P255L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	255						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGCGCCCGCCACTGGGG	0.667000													3	9					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704663	37704663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37704663A>G	ENST00000220659.6	-	3	365	c.245T>C	c.(244-246)gTt>gCt	p.V82A	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.V82A	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	82					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CAACTGCAGAACTCGACAAAG	0.532000													33	46					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861327	55861327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55861327G>T	ENST00000302124.2	+	1	575	c.544G>T	c.(544-546)Gct>Tct	p.A182S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A182S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACACCACAGCTCTTTTAGC	0.428000													11	107					1.5842e-08	1.90059e-08	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28994535	28994535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28994535G>A	ENST00000311008.11	+	10	1621	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	SPNS1_ENST00000565975.1_Missense_Mutation_p.R460H|SPNS1_ENST00000352260.7_Missense_Mutation_p.R341H|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.R363H|SPNS1_ENST00000323081.8_Missense_Mutation_p.R342H	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	415					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTACCCGACGCTCCACCGCC	0.632000													16	30					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785000	130785000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785000C>T	ENST00000265909.4	-	1	1404	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SNX19_ENST00000533214.1_Missense_Mutation_p.A279T|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	279					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGGGCACTGGCTGGGCAGGGT	0.562000													61	76					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592682	31592682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31592682G>A	ENST00000319386.3	+	2	1037	c.44G>A	c.(43-45)gGc>gAc	p.G15D	CCDC129_ENST00000451887.2_Missense_Mutation_p.G41D|CCDC129_ENST00000407970.3_Missense_Mutation_p.G15D|CCDC129_ENST00000482748.1_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	15										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCAGGAAGGCCAGGAAAAG	0.498000													7	5					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71977622C>A	ENST00000266674.5	+	18	2143	c.1832C>A	c.(1831-1833)gCc>gAc	p.A611D	LGR5_ENST00000540815.2_Missense_Mutation_p.A587D|LGR5_ENST00000536515.1_Missense_Mutation_p.A539D|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512000													29	44					8.16721e-17	1.05573e-16	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43045409	43045409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43045409A>G	ENST00000267890.6	-	14	2143	c.2035T>C	c.(2035-2037)Tca>Cca	p.S679P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	679					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTGAAGTTGACTGTGTAGAT	0.413000													16	24					0	0	1	0	0
GID8	54994	broad.mit.edu	37	20	61574940	61574940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61574940C>T	ENST00000266069.3	+	4	556	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_017896.2	NP_060366.1			GID complex subunit 8																		CGAGGAGAGCCGAGAGTGCCT	0.632000													14	20					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121337189T>C	ENST00000369092.4	-	9	1555	c.247A>G	c.(247-249)Act>Gct	p.T83A	TIAL1_ENST00000436547.2_Missense_Mutation_p.T206A|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368000													50	71					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15266936	15266936	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15266936A>G	ENST00000546332.1	-	7	1173	c.690T>C	c.(688-690)gcT>gcC	p.A230A	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.A230A|ASB9_ENST00000380485.3_Silent_p.A230A|ASB9_ENST00000380483.3_Silent_p.A220A	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	230					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTTGCCTTCAGCATTCTTGG	0.562000													22	47					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219521	134219521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134219521C>T	ENST00000305233.5	+	2	1576	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	506	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGTGGCCGGCGCGTGTTCTT	0.597000													41	53					0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95367782	95367782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95367782A>G	ENST00000370206.4	-	4	662	c.279T>C	c.(277-279)atT>atC	p.I93I	CNN3_ENST00000545882.1_Silent_p.I52I|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Silent_p.I93I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	93	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATAAGCCTGAATAGCTTTAA	0.348000													19	42					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400140	43400140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400140T>C	ENST00000244533.3	+	1	652	c.293T>C	c.(292-294)tTg>tCg	p.L98S	ABCC10_ENST00000372530.4_Missense_Mutation_p.L141S|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	141						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGTAGCCTTGCTGCCAGCT	0.657000													14	42					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278317	50278317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278317G>A	ENST00000216268.4	+	2	1484	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	336						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCACACCGCGCCATCGTG	0.637000													23	44					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704517	46704517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704517C>A	ENST00000454366.1	+	4	651	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAAATAAACCTCTTTGAGAA	0.517000													11	68					3.86212e-05	4.30401e-05	1	1	0
ELMOD2	255520	broad.mit.edu	37	4	141446679	141446679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141446679C>T	ENST00000323570.3	+	2	229	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	33					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TGAATTGCAGCGAATATTTGA	0.343000													37	64					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683149	71683149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71683149G>A	ENST00000393524.2	-	17	4148	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.R1241*|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.R1206*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1206						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCTGTCTTCGGATCCCAAAA	0.532000													9	74					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117783498	117783498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117783498C>T	ENST00000350763.4	-	28	6955	c.6544G>A	c.(6544-6546)Gct>Act	p.A2182T	TNC_ENST00000345230.3_Missense_Mutation_p.A1545T|TNC_ENST00000542877.1_Missense_Mutation_p.A1819T|TNC_ENST00000423613.2_Missense_Mutation_p.A1909T|TNC_ENST00000346706.3_Missense_Mutation_p.A1636T|TNC_ENST00000537320.1_Missense_Mutation_p.A1545T|TNC_ENST00000340094.3_Missense_Mutation_p.A1818T|TNC_ENST00000341037.4_Missense_Mutation_p.A2000T|TNC_ENST00000535648.1_Missense_Mutation_p.A1727T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2182	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCATCTCAGCAAACTGGATT	0.488000													7	46					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622720	29622720	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622720A>G	ENST00000247271.4	-	2	891	c.630T>C	c.(628-630)tcT>tcC	p.S210S	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	210					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTTGGTCAAAAGATTGGTCTG	0.363000													70	134					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342984	118342984	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118342984C>A	ENST00000534358.1	+	3	1133	c.1110C>A	c.(1108-1110)acC>acA	p.T370T	KMT2A_ENST00000389506.5_Silent_p.T370T|KMT2A_ENST00000354520.4_Silent_p.T370T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGATGCAACCATTGCTAAGC	0.428000													7	96					0.00198382	0.00210581	1	1	0
RPTN	126638	broad.mit.edu	37	1	152127497	152127497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152127497G>A	ENST00000316073.3	-	3	2142	c.2078C>T	c.(2077-2079)aCc>aTc	p.T693I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	693	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGCCTGGTCTGGGCCTG	0.532000													57	112					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616244	79616244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616244C>T	ENST00000296739.4	+	1	455	c.210C>T	c.(208-210)aaC>aaT	p.N70N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGAAGTTTAACAATCTCTTAA	0.368000													4	70					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492955	56492955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56492955G>A	ENST00000370754.5	-	32	4380	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W	DST_ENST00000518935.1_Missense_Mutation_p.R957W|DST_ENST00000312431.6_Missense_Mutation_p.R1283W|DST_ENST00000370769.4_Missense_Mutation_p.R1283W|DST_ENST00000421834.2_Missense_Mutation_p.R1283W|DST_ENST00000370788.2_Missense_Mutation_p.R1283W|DST_ENST00000244364.6_Missense_Mutation_p.R957W|DST_ENST00000361203.3_Missense_Mutation_p.R1283W|DST_ENST00000446842.2_Missense_Mutation_p.R957W|DST_ENST00000370765.6_Missense_Mutation_p.R957W			Q03001	DYST_HUMAN	dystonin	1283					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGTCCCGTAACCTAAGA	0.438000													10	31					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54874343	54874343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54874343G>A	ENST00000333896.5	+	23	5288	c.4903G>A	c.(4903-4905)Gtg>Atg	p.V1635M	SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1648M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1648	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGCAGAGACCGTGCATCAGCT	0.547000													12	76					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387291	150387291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387291G>A	ENST00000367339.1	-	2	124	c.96C>T	c.(94-96)caC>caT	p.H32H	ULBP3_ENST00000438272.2_Silent_p.H32H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	32	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACCAGAGAGAGTGAGCGTCTA	0.488000													18	23					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95217073	95217073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95217073A>G	ENST00000005178.5	-	8	1033	c.836T>C	c.(835-837)aTt>aCt	p.I279T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	279	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAAGACAACAATAACCTCTAT	0.383000													4	56					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97009879	97009879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97009879C>A	ENST00000455200.1	+	6	894	c.599C>A	c.(598-600)gCt>gAt	p.A200D	NCAPH_ENST00000427946.1_Missense_Mutation_p.A75D|NCAPH_ENST00000240423.4_Missense_Mutation_p.A211D			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	211					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAAAAAGGCTGTAAAGCCA	0.418000													10	31					0.000442599	0.00048047	1	1	0
FBL	2091	broad.mit.edu	37	19	40327309	40327309	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40327309C>T	ENST00000221801.3	-	7	796		c.e7-1		FBL_ENST00000593503.1_Splice_Site	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin						rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCCACCATTGCTAAGGAGAAA	0.547000													14	23					0	0	1	0	0
AC096574.4	0	broad.mit.edu	37	2	239141008	239141008	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239141008G>T	ENST00000456601.1	+	0	684																											TCTTCTCTCAGTATGGGGATG	0.527000													6	57					1	1	1	1	0
UPF1	5976	broad.mit.edu	37	19	18966764	18966764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18966764C>T	ENST00000262803.5	+	12	1847	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	UPF1_ENST00000599848.1_Silent_p.I536I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	536					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGCAACATCGCCGTGGACC	0.602000													9	14					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877108	16877108	+	Missense_Mutation	SNP	C	C	T	rs145872906	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16877108C>T	ENST00000377833.4	-	64	10332	c.10267G>A	c.(10267-10269)Gtt>Att	p.V3423I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3423	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAGAGTAACGGTGCAATCC	0.453000													27	58					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418567	23418567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23418567G>A	ENST00000302291.4	-	4	2989	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	LUZP1_ENST00000314174.5_Missense_Mutation_p.L730F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L730F|LUZP1_ENST00000418342.1_Missense_Mutation_p.L730F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	730						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTATCTGGGAGCTCCATGGTA	0.483000													105	168					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847695	96847695	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847695A>G	ENST00000375360.3	+	3	585	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y134C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	82							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGGGGGTTTACTCATCCTGG	0.547000													17	29					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78866649	78866649	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866649A>G	ENST00000306801.3	+	19	2584	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	RPTOR_ENST00000544334.2_Missense_Mutation_p.N583S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	741					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTTTGCAGAACCTGAGTTTG	0.498000													37	40					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98645166	98645166	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98645166C>T	ENST00000261574.5	+	10	924	c.744C>T	c.(742-744)taC>taT	p.Y248Y	IPO5_ENST00000539640.1_Silent_p.Y105Y|IPO5_ENST00000490680.1_Silent_p.Y230Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	230					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTCGTGCTACCAGAATGATG	0.408000													27	54					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452379	10452379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10452379G>A	ENST00000397077.1	-	5	895	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T107M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T107M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGAGCGTCACGTCCTG	0.557000													101	153					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600040	10600040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10600040G>A	ENST00000171111.5	-	5	2083	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	KEAP1_ENST00000393623.2_Silent_p.V512V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGGACGCAGACGCCTAAAG	0.572000													14	22					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12503017	12503017	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12503017A>G	ENST00000419318.1	-	4	848	c.99T>C	c.(97-99)tgT>tgC	p.C33C	CTD-3105H18.16_ENST00000595562.1_Silent_p.C65C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.C65C|ZNF799_ENST00000595766.1_3'UTR			Q96GE5	ZN799_HUMAN	zinc finger protein 799	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTAACATACGACATCTGTAAA	0.318000													5	34					0	0	1	0	0
SPATA12	353324	broad.mit.edu	37	3	57107737	57107737	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57107737T>A	ENST00000334325.1	+	2	690	c.15T>A	c.(13-15)gcT>gcA	p.A5A	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	5										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CCAGTTCTGCTCTGACTTGTG	0.547000													4	40					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328127	180328127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180328127C>T	ENST00000296015.4	+	12	2242	c.2110C>T	c.(2110-2112)Cgt>Tgt	p.R704C	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	704							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCAAAGATACCGTTTAAATAC	0.388000													5	71					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43168246	43168246	+	Missense_Mutation	SNP	C	C	T	rs148664624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43168246C>T	ENST00000252050.4	+	15	3541	c.3457C>T	c.(3457-3459)Ctc>Ttc	p.L1153F	CUL9_ENST00000372647.2_Missense_Mutation_p.L1153F|CUL9_ENST00000354495.3_Missense_Mutation_p.L1043F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1153	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGATGTGTTCCTCAGGCATCT	0.542000													18	23					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385376	141385376	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141385376G>A	ENST00000536163.1	-	3	428	c.429C>T	c.(427-429)agC>agT	p.S143S	KIAA1147_ENST00000482493.1_Silent_p.S52S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCCAGCTCGCTCTCCACGG	0.557000													42	34					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212141864	212141864	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212141864G>T	ENST00000366994.3	-	14	2105	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	INTS7_ENST00000366992.3_Silent_p.I667I|INTS7_ENST00000366993.3_Silent_p.I667I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.I618I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	667					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTGATTGGAGATGCGACCAC	0.383000													6	65					8.12818e-05	8.99451e-05	1	1	0
UGT1A8	0	broad.mit.edu	37	2	234526813	234526813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526813G>T	ENST00000373450.4	+	1	523	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGATGCCTGTGGCTTAATTGT	0.438000													71	102					4.98926e-31	6.69004e-31	1	1	0
ZC3H7A	29066	broad.mit.edu	37	16	11846564	11846564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11846564T>C	ENST00000396516.2	-	21	2884	c.2687A>G	c.(2686-2688)cAg>cGg	p.Q896R	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q896R|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.Q92R			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	896						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAAGCGGTGCTGCCAGCAGTA	0.468000													30	41					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653811	7653811	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7653811A>C	ENST00000359156.4	-	3	583	c.381T>G	c.(379-381)ctT>ctG	p.L127L	CD163_ENST00000432237.2_Silent_p.L127L|CD163_ENST00000396620.3_Silent_p.L127L|CD163_ENST00000541972.1_Silent_p.L115L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	127	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCAATCCCAAAGAGCTGACT	0.478000													26	162					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454223	114454223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114454223G>T	ENST00000394779.3	-	23	3969	c.3725C>A	c.(3724-3726)cCt>cAt	p.P1242H	C9orf84_ENST00000318737.4_Missense_Mutation_p.P1281H|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1207H|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1281H	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1281										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAAAGATAGGGTCCGATAC	0.383000													4	48					2.56e-06	2.9446e-06	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168352062	168352062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352062C>T	ENST00000366806.2	+	30	4149	c.4007C>T	c.(4006-4008)aCc>aTc	p.T1336I	MLLT4_ENST00000400822.3_Missense_Mutation_p.T1335I|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1319I|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1336I|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1343I|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1336I|MLLT4_ENST00000447894.2_Missense_Mutation_p.T1336I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1336					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCACACTGACCAAAAGTGGC	0.587000			T	MLL	AL								39	86					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6042121	6042121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6042121G>A	ENST00000265849.7	-	5	605	c.500C>T	c.(499-501)cCt>cTt	p.P167L	PMS2_ENST00000406569.3_Missense_Mutation_p.P167L|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.P61L|PMS2_ENST00000382321.4_Missense_Mutation_p.P167L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	167					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGCGCACAGGTAGTGTGGA	0.423000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	68					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629558	17629558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629558C>A	ENST00000262077.2	-	18	2871	c.2872G>T	c.(2872-2874)Gat>Tat	p.D958Y	NUP153_ENST00000537253.1_Missense_Mutation_p.D989Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	958					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AATTTAAAATCTCCTATTGGT	0.333000													6	77					0.00116845	0.00124821	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51264830	51264830	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51264830C>T	ENST00000266037.9	+	16	1517	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCCATTGACCGGTTCCGGG	0.483000													30	49					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868854	7868854	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7868854G>T	ENST00000381042.4	-	7	805	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	PNPLA4_ENST00000537427.1_Missense_Mutation_p.S125Y|PNPLA4_ENST00000444736.1_Missense_Mutation_p.S212Y	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTTGCCAGGGACAACTAGAA	0.358000													16	27					6.49762e-13	8.19883e-13	1	1	0
LDHB	3945	broad.mit.edu	37	12	21790067	21790067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21790067C>T	ENST00000396076.1	-	7	1107	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LDHB_ENST00000350669.1_Missense_Mutation_p.D259N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	259					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAATAAGATCAGCCACACTT	0.343000													44	63					0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898054	71898054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71898054G>A	ENST00000425432.1	-	6	783	c.404C>T	c.(403-405)gCt>gTt	p.A135V	ZNF821_ENST00000565601.1_Missense_Mutation_p.A135V|ZNF821_ENST00000446827.2_Missense_Mutation_p.A93V|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000564134.1_Missense_Mutation_p.A134V|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Missense_Mutation_p.A93V|RP11-498D10.4_ENST00000569119.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTACACGTGAGCAATCAACTG	0.552000													44	71					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219800C>T	ENST00000357232.3	-	18	4300	c.4301G>A	c.(4300-4302)cGt>cAt	p.R1434H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393000													5	61					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688570	99688570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99688570G>T	ENST00000303904.3	+	6	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	COPS6_ENST00000418625.1_Nonsense_Mutation_p.E177*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	178					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCAATGGAGAGGTAATACC	0.478000													31	102					9.80977e-26	1.30521e-25	1	1	0
CUL9	23113	broad.mit.edu	37	6	43181530	43181530	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43181530C>T	ENST00000252050.4	+	29	5652	c.5568C>T	c.(5566-5568)aaC>aaT	p.N1856N	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Silent_p.N1746N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1856				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATACCTGAACGTAGAGAAGG	0.587000													24	34					0	0	1	0	0
CTB-52I2.8	0	broad.mit.edu	37	19	18092792	18092792	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18092792G>A	ENST00000601725.1	+	0	408																											GCCTCGAGCCGCAGCATCGGG	0.602000													5	5					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38385970	38385970	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38385970C>A	ENST00000358138.1	-	1	210	c.186G>T	c.(184-186)gaG>gaT	p.E62D	C8orf86_ENST00000437935.2_Missense_Mutation_p.E62D	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	62										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TTCTTTGTCTCTCTGTTCGCT	0.557000													4	86					1	1	1	1	0
ZHX3	23051	broad.mit.edu	37	20	39830786	39830786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39830786G>A	ENST00000309060.3	-	4	3186	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	ZHX3_ENST00000559234.1_Missense_Mutation_p.S924F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.S924F|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.S924F|ZHX3_ENST00000560361.1_Missense_Mutation_p.S924F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	924					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTGTTCTCAGACACCTCTGA	0.602000													4	116					0	0	1	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964127	24964127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24964127C>T	ENST00000215829.3	+	3	889	c.302C>T	c.(301-303)gCt>gTt	p.A101V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.A101V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	101	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GGAAAAGCTGCTATTCTCAAG	0.453000													9	50					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111134925	111134925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134925G>A	ENST00000360467.5	+	32	3127	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	941	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGAGACCCGGGTTTCCAGG	0.517000													39	68					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129661	3129661	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3129661G>T	ENST00000380266.3	-	2	377	c.56C>A	c.(55-57)cCt>cAt	p.P19H	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	19					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAAGGCAGAAGGACTGCAAAA	0.478000													6	74					0.0215528	0.0221649	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022065	51022065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022065C>T	ENST00000599957.1	-	3	1102	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R302H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	302						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCTCGAGGCGGTGCAGGGG	0.637000													36	50					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927056	52927056	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52927056C>T	ENST00000295213.4	+	3	676	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SPATA18_ENST00000419395.2_Missense_Mutation_p.S101F|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	101					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCCCCTCTCTGCAGGTA	0.463000													14	25					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52188794	52188794	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188794C>A	ENST00000395718.2	+	12	1749	c.1464C>A	c.(1462-1464)caC>caA	p.H488Q	FRMD6_ENST00000344768.5_Missense_Mutation_p.H496Q|FRMD6_ENST00000554167.1_Missense_Mutation_p.H419Q|FRMD6_ENST00000553556.1_Missense_Mutation_p.H138Q|FRMD6_ENST00000356218.4_Missense_Mutation_p.H488Q	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	496						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAATGGACACTCTGGTGAGC	0.507000													6	55					3.59834e-05	4.01776e-05	1	1	0
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038281G>T	ENST00000334116.7	-	6	1474	c.864C>A	c.(862-864)ccC>ccA	p.P288P	ZNF529_ENST00000591340.1_Silent_p.P393P	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388000													9	148					1.12685e-05	1.27857e-05	1	1	0
GRWD1	83743	broad.mit.edu	37	19	48955977	48955977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48955977G>A	ENST00000253237.5	+	7	1269	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	346						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTTCCCCAGTGGCCACCTT	0.647000													22	48					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541245	55541245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541245G>T	ENST00000220676.1	+	4	4951	c.4803G>T	c.(4801-4803)gaG>gaT	p.E1601D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1601					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGACAGTGAGCAGCCATATA	0.393000													9	68					4.68919e-08	5.58064e-08	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120567270	120567270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120567270C>A	ENST00000300648.6	-	57	7712	c.7700G>T	c.(7699-7701)aGg>aTg	p.R2567M		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2567					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCACCAGCCTGATGTCGCT	0.527000													11	151					3.07112e-06	3.52574e-06	1	1	0
FGD1	2245	broad.mit.edu	37	X	54472773	54472773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54472773G>A	ENST00000375135.3	-	18	3388	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	885	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGCCTTCTGTCAGGCCGCT	0.642000													9	18					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5719631	5719631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5719631G>A	ENST00000379965.3	+	4	883	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	202					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAGCTGCAAAAGCTGG	0.488000													25	27					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566461	41566461	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41566461T>C	ENST00000263253.7	+	27	5557	c.4338T>C	c.(4336-4338)taT>taC	p.Y1446Y	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGATGATTATATCTTCCATT	0.413000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	98					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190327287	190327287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190327287C>A	ENST00000314761.4	+	9	916	c.856C>A	c.(856-858)Ctc>Atc	p.L286I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	286						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAGGAGTTTCTCCCGCGTTT	0.423000													5	106					0.014758	0.0152625	1	1	0
IRF9	10379	broad.mit.edu	37	14	24632221	24632221	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24632221G>A	ENST00000396864.3	+	3	514	c.227G>A	c.(226-228)gGt>gAt	p.G76D	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	76					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GACACAGGAGGTCCAGCTGTC	0.537000													16	20					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186810	123186810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123186810C>T	ENST00000328880.5	-	1	1080	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	341					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GCCTCTGGAGCGCCTCTGGTT	0.552000													49	96					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087482	5087482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087482G>T	ENST00000399604.4	-	1	210	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	ZNF594_ENST00000575779.1_Missense_Mutation_p.L24I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTTTGGAGTTTTTCGGAT	0.388000													31	58					3.99451e-17	5.17392e-17	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20403300	20403300	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20403300C>A	ENST00000222573.3	+	2	852	c.168C>A	c.(166-168)gcC>gcA	p.A56A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	56					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CATCCTGTGCCAGGTGCCTTG	0.393000													3	29					0.004672	0.0049138	1	1	0
MED1	5469	broad.mit.edu	37	17	37566109	37566109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37566109C>A	ENST00000300651.6	-	17	2588	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	789	Interaction with ESR1.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGAAGCTTCTTCTGCAATG	0.488000										HNSCC(31;0.082)			10	79					2.17888e-05	2.45068e-05	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132534815	132534815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132534815G>A	ENST00000265342.7	-	16	2750	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCACTGTGGTCCCCCCCTT	0.582000													12	11					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45397995	45397995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45397995C>T	ENST00000389039.6	-	18	2565	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	DUOX2_ENST00000603300.1_Missense_Mutation_p.G727D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	727					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAAAGGCGCCCCGTTCCTC	0.597000													26	38					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215583	50215583	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50215583T>G	ENST00000284509.6	-	17	1892	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H584P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACACTGAGGTGGTCTGACGT	0.403000													16	32					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835327	38835327	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38835327C>A	ENST00000449082.2	-	1	174	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	59					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTTGCAGGCTTTCAAGTCC	0.552000													51	66					1.35964e-18	1.77519e-18	1	1	0
AOX1	316	broad.mit.edu	37	2	201524722	201524722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201524722C>T	ENST00000374700.2	+	29	3546	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1102					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCTAGGATGCCTGTCAAACT	0.338000													8	30					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681612	70681612	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70681612A>G	ENST00000377844.4	-	1	979	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	74	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gaggaagaggaggaagGCTTC	0.592000													18	43					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621238	8621238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8621238C>T	ENST00000429646.2	+	9	3470	c.677C>T	c.(676-678)cCg>cTg	p.P226L	CPZ_ENST00000360986.4_Missense_Mutation_p.P618L|CPZ_ENST00000382480.2_Missense_Mutation_p.P481L|CPZ_ENST00000315782.6_Missense_Mutation_p.P607L			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	618					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCCGACCCGCTCCGGGCG	0.677000													4	37					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365440	30365440	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30365440C>A	ENST00000340513.4	+	9	1409	c.882_splice	c.e9+1	p.P294_splice	TPX2_ENST00000300403.6_Splice_Site_p.P294_splice			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	294					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTCATCTCCTGTAAGTTGA	0.353000													22	28					5.35356e-11	6.64197e-11	1	1	0
ACTB	60	broad.mit.edu	37	7	5568063	5568063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5568063G>A	ENST00000331789.5	-	4	842	c.651C>T	c.(649-651)tgC>tgT	p.C217C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	217					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGCGACGTAGCACAGCTTCT	0.592000													59	34					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433000													77	124					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442855	92442855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92442855G>A	ENST00000370389.2	+	6	1579	c.655G>A	c.(655-657)Gca>Aca	p.A219T	BRDT_ENST00000399546.2_Missense_Mutation_p.A292T|BRDT_ENST00000402388.1_Missense_Mutation_p.A292T|BRDT_ENST00000394530.3_Missense_Mutation_p.A246T|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.A292T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTTCATATGCATGGCCCTT	0.343000													59	92					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141697399	141697399	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141697399T>A	ENST00000499676.2	-	7	970	c.299A>T	c.(298-300)gAg>gTg	p.E100V	TFDP2_ENST00000467072.1_Missense_Mutation_p.E100V|TFDP2_ENST00000310282.6_Missense_Mutation_p.E100V|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000486111.1_Missense_Mutation_p.E100V|TFDP2_ENST00000397991.4_Missense_Mutation_p.E133V|TFDP2_ENST00000479040.1_Missense_Mutation_p.E100V|TFDP2_ENST00000495310.1_Missense_Mutation_p.E64V|TFDP2_ENST00000477292.1_Missense_Mutation_p.E25V|TFDP2_ENST00000489671.1_Missense_Mutation_p.E161V|TFDP2_ENST00000317104.7_Missense_Mutation_p.E84V	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	161					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						ATTGGTGAACTCTGACACCAG	0.383000													4	95					0	0	1	0	0
GRAP	10750	broad.mit.edu	37	17	18925335	18925335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18925335C>T	ENST00000573099.1	-	4	492	c.422G>A	c.(421-423)gGg>gAg	p.G141E	GRAP_ENST00000284154.5_Silent_p.R197R|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000395635.1_Silent_p.R168R			Q13588	GRAP_HUMAN	GRB2-related adaptor protein	0	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGACCGGCCCCGCCACCAGT	0.672000													6	11					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212989497	212989497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212989497G>A	ENST00000342788.4	-	2	524	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ERBB4_ENST00000402597.1_Missense_Mutation_p.R72W|ERBB4_ENST00000436443.1_Missense_Mutation_p.R72W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	72					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGAGGTCCCGGTTGTGCTCA	0.507000										TSP Lung(8;0.080)			3	52					0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6001721	6001721	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6001721G>T	ENST00000525219.2	-	5	798	c.504C>A	c.(502-504)acC>acA	p.T168T	IL15RA_ENST00000397251.3_Silent_p.T139T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Silent_p.T171T|IL15RA_ENST00000397250.2_Silent_p.T106T|IL15RA_ENST00000530685.1_Silent_p.T171T|IL15RA_ENST00000379977.3_Silent_p.T204T|IL15RA_ENST00000397255.3_Silent_p.T204T|IL15RA_ENST00000379971.1_Silent_p.T106T|IL15RA_ENST00000397248.2_Silent_p.T168T	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	204					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACTTACCAGTGGTGTCGCTGT	0.582000													6	10					0.00198382	0.00210581	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010060	40010060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010060G>A	ENST00000319121.3	-	2	2119	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	687						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTGCATCTGTCTGATGCGG	0.507000													55	69					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243497	47243497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243497C>A	ENST00000300404.2	+	9	1215	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L326M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L300M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	386					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTAGGAACCTGGCCATATC	0.463000													18	27					1.01871e-10	1.25892e-10	1	1	0
TP63	8626	broad.mit.edu	37	3	189587135	189587135	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189587135T>C	ENST00000264731.3	+	9	1241	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	TP63_ENST00000354600.5_Silent_p.G290G|TP63_ENST00000392463.2_Silent_p.G290G|TP63_ENST00000449992.1_Silent_p.G205G|TP63_ENST00000456148.1_Silent_p.G286G|TP63_ENST00000320472.5_Silent_p.G384G|TP63_ENST00000392461.3_Silent_p.G290G|TP63_ENST00000437221.1_Silent_p.G290G|TP63_ENST00000418709.2_Silent_p.G384G|TP63_ENST00000382063.4_Silent_p.G299G|TP63_ENST00000392460.3_Silent_p.G384G|TP63_ENST00000440651.2_Silent_p.G380G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	384	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACACATGGTATCCAGATGA	0.383000										HNSCC(45;0.13)			3	30					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798658	24798658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798658G>A	ENST00000310677.4	-	10	1412	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	ADCY4_ENST00000396747.3_Silent_p.D126D|ADCY4_ENST00000554068.2_Silent_p.D433D|ADCY4_ENST00000418030.2_Silent_p.D433D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAGGTAGGGGTCCCGATGCT	0.632000													14	38					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9785586	9785586	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9785586G>A	ENST00000383829.2	+	8	3039		c.e8+1		BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAAGCAAAGGTCTGAATCCC	0.597000													3	19					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949212	198949212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198949212C>A	ENST00000428675.1	+	2	1369	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.S226Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	324					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTACAGATATCTAAAAACAAA	0.393000													14	97					4.3838e-07	5.12524e-07	1	1	0
TM2D3	80213	broad.mit.edu	37	15	102186949	102186949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102186949G>A	ENST00000561373.1	-	2	842	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TM2D3_ENST00000333202.3_Missense_Mutation_p.R161W|TM2D3_ENST00000559107.1_Missense_Mutation_p.R161W|TM2D3_ENST00000347970.3_Missense_Mutation_p.R135W|TM2D3_ENST00000428002.2_Missense_Mutation_p.R135W			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	161						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTGGTCCCGCACCGTGCAG	0.502000													21	37					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874582	88874582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88874582C>A	ENST00000303236.3	-	13	2720	c.2419G>T	c.(2419-2421)Gta>Tta	p.V807L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V656L|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	807	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCTTCAAATACTATTGAAGAG	0.413000													58	115					8.72158e-25	1.15801e-24	1	1	0
E2F3	1871	broad.mit.edu	37	6	20487011	20487011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:20487011C>A	ENST00000346618.3	+	5	1042	c.976C>A	c.(976-978)Ctt>Att	p.L326I	E2F3_ENST00000535432.1_Missense_Mutation_p.L195I	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	326	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGAAACAAGACTTGAAGTGCC	0.383000													13	32					1.3612e-06	1.57881e-06	1	1	0
ABL1	25	broad.mit.edu	37	9	133729608	133729608	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133729608T>G	ENST00000318560.5	+	2	618	c.237T>G	c.(235-237)acT>acG	p.T79T		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	79	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAGATAACACTCTAAGCATAA	0.473000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								4	95					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9875174	9875174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9875174G>A	ENST00000256190.8	-	20	2586	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	817					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTAATGAACCGCACAACAGAA	0.423000													59	107					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604861	31604861	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31604861C>A	ENST00000376033.2	+	29	6424	c.6190C>A	c.(6190-6192)Ctg>Atg	p.L2064M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L2064M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2064	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTATCAAAAACTGAGCAGCAA	0.488000													6	72					0.00307968	0.00325696	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50273579	50273579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50273579G>A	ENST00000338821.5	-	14	1668	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	ATP9A_ENST00000402822.1_Silent_p.N347N|ATP9A_ENST00000311637.5_Silent_p.N332N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	468					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGAGTCACGTTGTGGCAGA	0.627000													3	30					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518450	161518450	+	Missense_Mutation	SNP	A	A	G	rs11804152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161518450A>G	ENST00000367969.3	-	3	371	c.188T>C	c.(187-189)gTg>gCg	p.V63A	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.V27A|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62A|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27A	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	27	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.567000													5	73					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27070659	27070659	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27070659C>T	ENST00000261191.7	-	9	1433	c.897G>A	c.(895-897)tcG>tcA	p.S299S	ASUN_ENST00000539625.1_Silent_p.S198S	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	299					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CACCTAGATGCGAATCACCTT	0.323000													9	22					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693399	94693399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693399C>T	ENST00000282020.4	+	16	3032	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	GRID2_ENST00000510992.1_Missense_Mutation_p.T830I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	925	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTCAGGAACACTCATATTACC	0.458000													28	52					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88505575	88505575	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88505575C>A	ENST00000552810.1	-	21	2456	c.2113G>T	c.(2113-2115)Gtt>Ttt	p.V705F	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.V707F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	705					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGATCAACTTGGGCTTTC	0.358000													8	24					0.00307968	0.00325696	1	1	0
CTBP1-AS2	0	broad.mit.edu	37	4	1244466	1244466	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1244466C>T	ENST00000581398.1	+	0	420				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						GGTGCAGGGACGTACCACCCC	0.617000													13	72					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167489208	167489208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167489208C>A	ENST00000519204.1	+	6	1208	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I	TENM2_ENST00000520394.1_Missense_Mutation_p.L253I|TENM2_ENST00000403607.2_Missense_Mutation_p.L318I|TENM2_ENST00000518659.1_Missense_Mutation_p.L485I|TENM2_ENST00000545108.1_Missense_Mutation_p.L485I					teneurin transmembrane protein 2																		CAACATCTCCCTCGGGAAGGA	0.453000													4	63					0.00024832	0.0002712	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35169735	35169735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35169735G>A	ENST00000381318.3	+	18	2293	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ITSN1_ENST00000381285.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E669K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E632K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E669K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E669K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E669K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E669K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E669K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E669K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	669	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAGGAGGACGAGCATCAGAG	0.478000													10	100					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173799819	173799819	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173799819A>G	ENST00000361951.4	+	4	1043	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	106					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGTGAAGAAGATTTTATGTGA	0.423000													13	72					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547929	52547929	+	Missense_Mutation	SNP	G	G	A	rs2286786	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52547929G>A	ENST00000321725.6	+	32	3455	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1127			G -> R (in dbSNP:rs2286786).		cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGTGCCCGGTGGGCAGGG	0.622000													21	162					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44528205	44528205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44528205G>A	ENST00000260649.6	+	6	1151	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D81N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D359N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D359N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	359					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGGAATGCACGACATTGTCCG	0.532000													16	14					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26978878	26978878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26978878G>A	ENST00000307301.7	-	2	204	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MRPL39_ENST00000352957.4_Nonsense_Mutation_p.Q55*	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	55						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AATGATAACTGCCTGGCTTTC	0.418000													23	50					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43609301	43609301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43609301G>A	ENST00000264663.5	+	2	225	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.A2T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	2					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TATCAACATGGCAAACCTATT	0.398000													23	30					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457591	100457591	+	Silent	SNP	G	G	A	rs140502011	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100457591G>A	ENST00000354161.3	+	8	1187	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	SLC12A9_ENST00000275729.3_Silent_p.A265A|SLC12A9_ENST00000540482.1_Silent_p.A354A|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000415287.1_Silent_p.A265A|SLC12A9_ENST00000428758.1_Silent_p.A354A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	354						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGCCACAGCGCTCTCAGCGT	0.597000													35	95					0	0	1	0	0
ZNF385A	25946	broad.mit.edu	37	12	54765377	54765377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54765377C>T	ENST00000546970.1	-	6	773	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	ZNF385A_ENST00000394313.2_Missense_Mutation_p.A162T|ZNF385A_ENST00000338010.5_Missense_Mutation_p.A182T|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A162T|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGCCGGGGCTGGAGTCCCC	0.627000													42	50					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59067480	59067480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59067480G>A	ENST00000589222.1	+	15	1438	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	BCAS3_ENST00000588462.1_Missense_Mutation_p.R457H|BCAS3_ENST00000588874.1_Missense_Mutation_p.R228H|BCAS3_ENST00000390652.5_Missense_Mutation_p.R457H|BCAS3_ENST00000407086.3_Missense_Mutation_p.R457H|BCAS3_ENST00000585744.1_Missense_Mutation_p.R228H|BCAS3_ENST00000408905.3_Missense_Mutation_p.R457H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	457						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCATGAGCCGTTTCCAGAAA	0.512000													10	27					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682771	122682771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122682771T>C	ENST00000337677.5	-	5	692	c.134A>G	c.(133-135)cAt>cGt	p.H45R	TMEM155_ENST00000394394.1_Missense_Mutation_p.H45R|TMEM155_ENST00000394396.1_Missense_Mutation_p.H45R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	45						extracellular region				breast(1)|lung(5)	6						AGCCAGTGCATGGCACACTCT	0.433000													6	44					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600582	66600582	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66600582G>T	ENST00000379500.2	+	1	233	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F	CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.V56F|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000457188.2_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.V56F|CMTM1_ENST00000531885.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GCACCCCGCAGTCTCAATTCG	0.657000													4	50					0.00909568	0.00947522	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171510589	171510589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171510589C>T	ENST00000367742.3	+	16	4226	c.3984C>T	c.(3982-3984)gaC>gaT	p.D1328D	PRRC2C_ENST00000392078.3_Silent_p.D1328D|PRRC2C_ENST00000426496.2_Silent_p.D1326D|PRRC2C_ENST00000338920.4_Silent_p.D1326D			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1326							protein C-terminus binding										TAAGGGATGACGATAAAGCTA	0.448000													5	33					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	650259	650259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:650259C>T	ENST00000292363.5	-	5	636	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	161							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGGTGGCGGGCGTGATG	0.692000													4	4					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42871382	42871382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42871382A>G	ENST00000405592.1	+	7	999	c.329A>G	c.(328-330)gAa>gGa	p.E110G	MTA3_ENST00000407270.3_Missense_Mutation_p.E166G|MTA3_ENST00000406652.1_Missense_Mutation_p.E110G|MTA3_ENST00000405094.1_Missense_Mutation_p.E166G|MTA3_ENST00000406911.1_Missense_Mutation_p.E166G			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	166	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGCTGTTAGAAGGTACGTTT	0.388000													5	41					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78638728	78638728	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78638728A>C	ENST00000545128.1	+	4	1024	c.486A>C	c.(484-486)ggA>ggC	p.G162G	PCSK5_ENST00000376752.4_Silent_p.G162G|PCSK5_ENST00000376767.3_Silent_p.G162G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	162	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACACGGGAAAGAACATTG	0.473000													5	69					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93541812	93541812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93541812G>T	ENST00000394196.4	+	31	5037	c.3969G>T	c.(3967-3969)aaG>aaT	p.K1323N	CHD2_ENST00000557381.1_Missense_Mutation_p.K1323N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1323					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCTCAGAAAGGGTCTGGAGA	0.532000													6	123					0.00116845	0.00124821	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658807	20658807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20658807C>A	ENST00000525748.1	+	12	2100	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	609					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTGGGCTGCTGCATTTGTT	0.542000													10	71					0.00621372	0.00652201	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43067512	43067512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067512C>T	ENST00000267890.6	-	13	1927	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	607					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTAAATGATCATTTTCTGCC	0.463000													30	86					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121843	50121843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50121843G>A	ENST00000374160.3	-	1	434	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L120F|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	120						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGTTCTTGAGTTGCTTCAGC	0.607000													11	22					0	0	1	0	0
HDGFRP2	0	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4491791C>T	ENST00000301284.4	+	6	701	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627000													45	39					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16377038	16377038	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16377038C>A	ENST00000375679.4	+	11	1107	c.996C>A	c.(994-996)acC>acA	p.T332T	CLCNKB_ENST00000375667.3_Silent_p.T163T	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGCCACCTTGGTTCTCG	0.647000													6	62					0.00198382	0.00210581	1	1	0
TRIM9	114088	broad.mit.edu	37	14	51464729	51464729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51464729G>A	ENST00000360392.4	-	7	1778	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	TRIM9_ENST00000298355.3_Intron|TRIM9_ENST00000338969.5_Intron	NM_052978.4	NP_443210.1	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	0	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGATGCCACGCAGTTCTCGC	0.562000													3	22					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8073377C>T	ENST00000377482.5	-	4	1505	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	428					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	p.A428S(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433000													8	100					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152332875	152332875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152332875G>A	ENST00000440973.1	+	7	1551	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	ESR1_ENST00000338799.5_Missense_Mutation_p.R394H|ESR1_ENST00000206249.3_Missense_Mutation_p.R394H|ESR1_ENST00000456483.2_Missense_Mutation_p.R282H|ESR1_ENST00000443427.1_Missense_Mutation_p.R394H|ESR1_ENST00000544394.1_Missense_Mutation_p.R221H|ESR1_ENST00000406599.1_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	394	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTCGTCTGGCGCTCCATGGAG	0.498000													34	53					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140774315	140774315	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140774315C>A	ENST00000398604.2	+	1	1935	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGGTGGCCGTCCAGGACC	0.677000													6	31					2.7689e-08	3.31013e-08	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123804521	123804521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123804521A>G	ENST00000420886.2	-	19	2724	c.2725T>C	c.(2725-2727)Tca>Cca	p.S909P	SBNO1_ENST00000267176.4_Missense_Mutation_p.S908P|SBNO1_ENST00000602750.1_Missense_Mutation_p.S908P|SBNO1_ENST00000602398.1_Missense_Mutation_p.S909P	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	909							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCAGATCTTGACTCATAAGAT	0.408000													3	41					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860116	55860116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55860116G>A	ENST00000422046.2	-	3	630	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CES1_ENST00000360526.3_Missense_Mutation_p.L118F|CES1_ENST00000361503.4_Missense_Mutation_p.L117F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	117					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGAGGTAAAGACAGTCTTCA	0.517000													84	165					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009370	213009370	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213009370A>G	ENST00000332912.3	-	2	229	c.122T>C	c.(121-123)gTc>gCc	p.V41A		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	41										kidney(1)|large_intestine(1)|lung(1)	3						CAGTAAGCTGACTTGATTGCT	0.443000													27	176					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50680528	50680528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50680528G>T	ENST00000230658.7	+	2	767	c.182G>T	c.(181-183)aGg>aTg	p.R61M	ISL1_ENST00000511384.1_Missense_Mutation_p.R61M	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	61	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCTTTGTTAGGGATGGGAAA	0.403000													62	107					9.65139e-37	1.2994e-36	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50656511	50656511	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50656511T>G	ENST00000248846.5	-	24	5308	c.5204A>C	c.(5203-5205)aAc>aCc	p.N1735T	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1735					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGATGACGTTCATGACGGG	0.706000													22	47					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74413958	74413958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74413958G>A	ENST00000376332.3	-	9	1497	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	CHRDL2_ENST00000263671.5_Missense_Mutation_p.A334V|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	334					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCGGCCCGGTGCCTTGGGACA	0.567000											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	46					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857475	38857475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38857475G>T	ENST00000310301.4	-	7	446	c.392C>A	c.(391-393)gCt>gAt	p.A131D	VPS41_ENST00000395969.2_Missense_Mutation_p.A106D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	131					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGGTGCACAGCAATAATCTA	0.463000													27	54					2.49675e-24	3.31153e-24	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520791	33520791	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520791G>A	ENST00000297307.5	-	1	621	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	179						integral to membrane											CTCCTGTAGTGTCCAGAGTCC	0.587000													9	149					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68847244	68847244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847244C>T	ENST00000261769.5	+	9	1357	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	389	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGAACGAGGCTAACGTCGTA	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				35	71					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9776516	9776516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9776516G>T	ENST00000536656.1	+	6	827	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.V207L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V207L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	207					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTCCAGGTGTCCACCAA	0.667000													13	18					9.31168e-06	1.06029e-05	1	1	0
FRZB	2487	broad.mit.edu	37	2	183702695	183702695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183702695C>T	ENST00000295113.4	-	5	1451	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	281	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTTACCGAGTCGATCCTTCCA	0.328000													18	38					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131029534	131029534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131029534G>A	ENST00000421699.2	-	7	512	c.500C>T	c.(499-501)gCg>gTg	p.A167V		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	167						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGGGCTACCGCTAGCTGTTG	0.522000													29	36					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573337	90573337	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90573337G>A	ENST00000551025.1	+	0	3346							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACCAAAGGTTGCTCTTCTAGC	0.438000													11	12					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070599	32070599	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:32070599G>A	ENST00000566806.1	-	0	499																											GGGCCTCAGTGAAGGTCTCCT	0.577000													13	33					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400110	138400110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138400110G>A	ENST00000409968.1	+	21	4030	c.3852G>A	c.(3850-3852)cgG>cgA	p.R1284R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.R1287R|THSD7B_ENST00000413152.2_Silent_p.R1256R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAAGGACGGCCATGCCCCA	0.512000													8	96					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100153290	100153290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100153290G>T	ENST00000300176.4	+	6	931	c.809G>T	c.(808-810)aGc>aTc	p.S270I	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	270					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGGCCCCAGCTCTTCTGTG	0.522000													9	143					2.62144e-13	3.32269e-13	1	1	0
HSPA4	3308	broad.mit.edu	37	5	132424247	132424247	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132424247G>T	ENST00000304858.2	+	9	1426	c.1137_splice	c.e9+1	p.Q379_splice		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	379					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCATTGCAGGTGAATATTC	0.373000													23	61					6.44725e-10	7.89499e-10	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197948118	197948118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197948118C>T	ENST00000328737.2	-	14	1433	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A478T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A470T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A406T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A453T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A453T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	478							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGCAGCGGCGTAATGCAAA	0.483000													4	74					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327557	5327557	+	Missense_Mutation	SNP	C	C	T	rs137876561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5327557C>T	ENST00000396872.2	+	2	271	c.110C>T	c.(109-111)gCg>gTg	p.A37V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A37V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A37V	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	37					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GAGGAGGCGGCGGAGGCGGCT	0.667000													5	27					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36594735	36594735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36594735C>T	ENST00000401500.2	+	30	4040	c.4005C>T	c.(4003-4005)agC>agT	p.S1335S	WDR62_ENST00000270301.7_Silent_p.S1330S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1330					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAAGAGAGCGCCCTGAGGC	0.672000													28	41					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10706199	10706199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10706199G>T	ENST00000377022.3	-	17	3999	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGGACAGAGACACTGCAGA	0.602000													4	45					0.00909568	0.00947522	1	1	0
CDH12	1010	broad.mit.edu	37	5	21975343	21975343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21975343C>T	ENST00000382254.1	-	6	1469	c.383G>A	c.(382-384)cGt>cAt	p.R128H	CDH12_ENST00000522262.1_Missense_Mutation_p.R128H|CDH12_ENST00000504376.2_Missense_Mutation_p.R128H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTGAGCACGAAGAGTGTA	0.443000										HNSCC(59;0.17)			32	40					0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66039663	66039663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66039663C>T	ENST00000311481.6	+	3	270	c.123C>T	c.(121-123)atC>atT	p.I41I	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.I41I	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCAGCACCATCGGGGTGGACT	0.502000													63	126					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516781	38516781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38516781T>C	ENST00000332509.3	-	12	1910	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	PLA2G6_ENST00000335539.3_Missense_Mutation_p.D522G|PLA2G6_ENST00000402064.1_Missense_Mutation_p.D522G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	576					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TTTCCTGACGTCCGTCATCTT	0.652000													32	55					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23570943	23570943	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23570943G>A	ENST00000395878.3	+	3	891	c.510G>A	c.(508-510)gcG>gcA	p.A170A	UBFD1_ENST00000567212.1_Silent_p.A161A|UBFD1_ENST00000219638.4_Silent_p.A394A|UBFD1_ENST00000567264.1_Silent_p.A170A|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAGATGCTGCGCAGCAGGATG	0.468000													4	31					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194509	52194509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194509G>T	ENST00000395718.2	+	14	1892	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	FRMD6_ENST00000344768.5_Missense_Mutation_p.S544I|FRMD6_ENST00000554167.1_Missense_Mutation_p.S467I|FRMD6_ENST00000553556.1_Missense_Mutation_p.S186I|FRMD6_ENST00000356218.4_Missense_Mutation_p.S536I	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	544						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CACAGCTTGAGCCTCGATGAC	0.448000													51	87					9.59835e-30	1.28499e-29	1	1	0
BDH2	56898	broad.mit.edu	37	4	104017402	104017402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104017402G>A	ENST00000296424.4	-	2	130	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	4					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TTCCCATCAAGTCGACCCATA	0.423000													4	9					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993142	113993142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113993142C>T	ENST00000429538.3	-	9	1110	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	306					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTATGGCGAAGGGTGAG	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	19					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24135839	24135839	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24135839C>A	ENST00000344921.6	+	3	506	c.299C>A	c.(298-300)gCt>gAt	p.A100D	SMARCB1_ENST00000407082.3_Missense_Mutation_p.A109D|SMARCB1_ENST00000407422.3_Missense_Mutation_p.A100D|SMARCB1_ENST00000263121.7_Missense_Mutation_p.A109D			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	109					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAGTACAAGGCTGTGTCCATC	0.532000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							35	65					4.34311e-12	5.44287e-12	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16973180	16973180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16973180T>G	ENST00000379803.1	+	9	1090	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SIN3B_ENST00000248054.5_Missense_Mutation_p.F359C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	359	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAACTCTTTGCACAGTTC	0.493000													4	45					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943196	45943196	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45943196G>A	ENST00000357632.2	+	3	1096	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	CCR9_ENST00000355983.2_Missense_Mutation_p.A294T|CCR9_ENST00000395963.2_Missense_Mutation_p.A294T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	306					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCAGACCATCGCCTTCTTCCA	0.502000													27	40					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15170447	15170447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15170447G>A	ENST00000378165.4	-	8	981	c.901C>T	c.(901-903)Cga>Tga	p.R301*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R113*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	301					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTAGTGATCGATGCCAGTAT	0.338000													8	72					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30876364	30876364	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30876364A>G	ENST00000265299.6	+	7	1300	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	408										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCAATTGACCTCTCAGTA	0.448000													35	91					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457660	124457660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124457660G>A	ENST00000329446.4	-	3	628	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	199										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGACCCAGGCCCACCCCAG	0.483000													18	24					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112166788	112166788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112166788C>A	ENST00000412145.1	-	14	4053	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	PTPN3_ENST00000374541.2_Missense_Mutation_p.E631D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E477D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E99D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E455D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	631					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATGGATCCCTCCAAAGTGT	0.552000													8	57					0.27861	0.279982	1	1	0
C1orf112	55732	broad.mit.edu	37	1	169777011	169777011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169777011C>A	ENST00000286031.6	+	8	1343	c.643C>A	c.(643-645)Ctt>Att	p.L215I	C1orf112_ENST00000413811.2_Missense_Mutation_p.L186I|C1orf112_ENST00000456684.1_Missense_Mutation_p.L273I|C1orf112_ENST00000359326.4_Missense_Mutation_p.L215I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	215										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGACATTCTTTTCTCCTT	0.353000													16	138					4.7546e-09	5.74312e-09	1	1	0
PLAA	9373	broad.mit.edu	37	9	26919311	26919311	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26919311T>C	ENST00000397292.3	-	9	1831	c.1414A>G	c.(1414-1416)Aca>Gca	p.T472A	PLAA_ENST00000520884.1_Missense_Mutation_p.T472A|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	472					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACTTACCTGTAAATGGATCT	0.303000													25	36					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130027191	130027191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130027191G>T	ENST00000373387.4	+	1	387	c.35G>T	c.(34-36)aGa>aTa	p.R12I	GARNL3_ENST00000314904.5_Missense_Mutation_p.R12I|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	12					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTGTGGCCAGATCGCTATGT	0.478000													8	82					0.000157383	0.00017284	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48715996	48715996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715996C>A	ENST00000314191.2	-	71	9846	c.9790G>T	c.(9790-9792)Gag>Tag	p.E3264*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3264*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3265	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTTTGACTCTTTATGCAGC	0.493000								Non-homologous end-joining					15	92					1.15088e-07	1.35723e-07	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433282	73433282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73433282G>A	ENST00000263666.4	-	10	2549	c.2435C>T	c.(2434-2436)aCg>aTg	p.T812M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647000													10	55					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73835975	73835975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73835975C>T	ENST00000207549.4	-	12	1379	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.V334I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	334	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.V334I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAAGAGGACGGTGGCAGCC	0.667000									Familial Hemophagocytic Lymphohistiocytosis				14	43					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898940	30898940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30898940C>T	ENST00000375712.3	+	2	1527	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3B_ENST00000418717.2_Missense_Mutation_p.R80W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	454					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGGACCTGCGGCGGGAGAA	0.537000													4	6					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831452	89831452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89831452A>G	ENST00000389301.3	-	28	2654	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	FANCA_ENST00000568369.1_Missense_Mutation_p.L875S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	875					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCTGAGAACAATCTGAACAT	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	42					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63128776	63128776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63128776G>A	ENST00000251157.5	-	2	97	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.Q22*|DOCK7_ENST00000404627.2_Nonsense_Mutation_p.Q22*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	22					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGGAGATCTGCTTCCTAACT	0.368000													13	137					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936974	178936974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178936974C>A	ENST00000286063.5	-	1	508	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	64					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTGCAGGTGCTGTGAGCCAA	0.627000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	16					0.0215528	0.0221649	1	1	0
FES	2242	broad.mit.edu	37	15	91437250	91437250	+	Missense_Mutation	SNP	A	A	G	rs147795278	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91437250A>G	ENST00000328850.3	+	18	2430	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	FES_ENST00000444422.2_Missense_Mutation_p.N693S|FES_ENST00000394300.3_Missense_Mutation_p.N705S|FES_ENST00000394302.1_Missense_Mutation_p.N622S|FES_ENST00000450438.2_Missense_Mutation_p.N635S|FES_ENST00000414248.2_Missense_Mutation_p.N635S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	763	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTATCCCAACCTCAGCAAT	0.612000													82	202					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100963754	100963754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100963754C>T	ENST00000336454.3	+	14	1767	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	CDC14A_ENST00000544534.1_Missense_Mutation_p.T471I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T413I|CDC14A_ENST00000361544.6_Missense_Mutation_p.T471I|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	471					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCGGGTGCCACTGTAAGAAGG	0.468000													57	129					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942779	47942779	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47942779C>T	ENST00000402813.3	-	9	1014		c.e9+1		CNGA1_ENST00000358519.4_Splice_Site|CNGA1_ENST00000514170.1_Splice_Site|CNGA1_ENST00000544810.1_Splice_Site|CNGA1_ENST00000420489.2_Splice_Site			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACATATTTACCTGTCCTTGT	0.294000													21	33					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924294C>T	ENST00000326866.4	+	4	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_ENST00000509524.1_Silent_p.F111F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408000													29	52					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866664	42866664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42866664C>T	ENST00000334370.4	+	33	6407	c.5772C>T	c.(5770-5772)tgC>tgT	p.C1924C	MEGF8_ENST00000251268.6_Silent_p.C1991C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1991	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGAACTGCTCCGAGGCTG	0.627000													7	97					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4148393	4148393	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148393A>C	ENST00000300738.5	+	14	1803	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	RRM1_ENST00000537197.1_Missense_Mutation_p.E195D|RRM1_ENST00000534285.1_Missense_Mutation_p.E311D|RRM1_ENST00000423050.2_Missense_Mutation_p.E436D	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	533					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGATCTTTGAAACTATTTATT	0.463000													38	46					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376255	200376255	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376255C>A	ENST00000294740.2	-	2	2703	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	ZNF281_ENST00000367353.1_Missense_Mutation_p.R860I|ZNF281_ENST00000367352.3_Missense_Mutation_p.R824I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	860					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTCCTTACTCTATGGTCCAC	0.438000													5	127					0.014758	0.0152625	1	1	0
RSPO3	84870	broad.mit.edu	37	6	127471638	127471638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127471638C>A	ENST00000356698.4	+	3	946	c.357C>A	c.(355-357)taC>taA	p.Y119*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Y119*|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	119						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GTGGATTTTACTTACACCTTG	0.373000													6	87					8.12818e-05	8.99451e-05	1	1	0
ZNF185	7739	broad.mit.edu	37	X	152135744	152135744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152135744G>T	ENST00000535861.1	+	21	1974	c.1926G>T	c.(1924-1926)gaG>gaT	p.E642D	ZNF185_ENST00000539731.1_Missense_Mutation_p.E613D|ZNF185_ENST00000324823.6_Missense_Mutation_p.E378D|ZNF185_ENST00000370270.1_Missense_Mutation_p.E373D|ZNF185_ENST00000318504.7_Missense_Mutation_p.E551D|ZNF185_ENST00000318529.8_Missense_Mutation_p.E389D|ZNF185_ENST00000370268.4_Missense_Mutation_p.E610D|ZNF185_ENST00000449285.2_Missense_Mutation_p.E611D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	610	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCCATGGAGAAGAAGCCTC	0.493000													5	71					0.000602214	0.000649039	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90178373	90178373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90178373C>T	ENST00000370454.4	+	3	499	c.244C>T	c.(244-246)Cct>Tct	p.P82S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	82						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACTCCACTGCCTCCACCTAA	0.478000													26	71					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20501713	20501713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20501713G>A	ENST00000202677.6	-	31	4074	c.3932C>T	c.(3931-3933)aCg>aTg	p.T1311M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1311					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGGTGTACGTGCTTGAGCC	0.527000													40	61					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5493871	5493871	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5493871G>A	ENST00000542715.1	+	0	225				NET1_ENST00000355029.4_Missense_Mutation_p.A112T|NET1_ENST00000380359.3_Missense_Mutation_p.A58T			Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAGAAATGGAGCTGTCAGACG	0.413000													62	91					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118584517	118584517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118584517G>T	ENST00000336338.5	-	21	3028	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	988						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCCTTGTAAGGTGATTTTTT	0.403000													10	384					2.17888e-05	2.45068e-05	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1561966	1561966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1561966G>A	ENST00000572621.1	-	32	5495	c.5230C>T	c.(5230-5232)Cgt>Tgt	p.R1744C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1744C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1744	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCCGTTCACGTAACACATAC	0.498000													18	37					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43481006	43481006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481006G>A	ENST00000282041.5	-	26	4635	c.4601C>T	c.(4600-4602)aCc>aTc	p.T1534I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1534					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACCAGCTGGGTGGCGTCCTT	0.572000													28	33					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943348	144943348	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943348C>T	ENST00000525985.1	-	2	4145	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V				P58107	EPIPL_HUMAN	epiplakin 1	1358						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGCACCTGCAGGA	0.677000													9	10					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370803G>A	ENST00000389413.3	-	17	2542	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389418.4_Silent_p.I842I|PTPRN2_ENST00000404321.2_Silent_p.I865I|PTPRN2_ENST00000389416.4_Silent_p.I825I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592000													40	29					0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155058919	155058919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155058919C>T	ENST00000368408.3	+	5	687	c.617C>T	c.(616-618)cCc>cTc	p.P206L	EFNA3_ENST00000418360.2_Missense_Mutation_p.P180L|EFNA3_ENST00000556931.1_Missense_Mutation_p.P201L|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.P201L	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	206					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCAGGTGCCCAAGCTTGAG	0.627000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	40					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063577	58063577	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58063577G>T	ENST00000339762.6	-	1	38	c.39C>A	c.(37-39)acC>acA	p.T13T	SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTCCCACTGGTCAGTTTGT	0.423000													6	25					0.00116845	0.00124821	1	1	0
GALNT11	63917	broad.mit.edu	37	7	151807673	151807673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151807673A>G	ENST00000434507.1	+	9	1460	c.1023A>G	c.(1021-1023)ggA>ggG	p.G341G	GALNT11_ENST00000320311.2_Silent_p.G341G|GALNT11_ENST00000452146.2_Silent_p.G260G|GALNT11_ENST00000430044.2_Silent_p.G341G			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	341	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGAACTTGGACAGTATGATA	0.368000													168	131					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	G	A	rs150338973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453000													36	47					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36879871	36879871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36879871G>A	ENST00000301807.6	-	19	5624	c.3727C>T	c.(3727-3729)Ctg>Ttg	p.L1243L	TRANK1_ENST00000429976.2_Silent_p.L1793L|TRANK1_ENST00000428977.2_Silent_p.L1243L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCCCAGCCTCTCGCAC	0.537000													5	60					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202272173	202272173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202272173G>T	ENST00000332624.3	-	3	667	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.S80Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	80						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGCATCAGATGCATGCTG	0.403000													4	35					0.00024832	0.0002712	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56382460	56382460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56382460G>T	ENST00000355701.3	-	30	6376	c.5506C>A	c.(5506-5508)Ctg>Atg	p.L1836M	BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1776M|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L1836M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1836						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGTCCAGGCCGCCTGCC	0.632000													4	38					4.096e-09	4.95403e-09	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530558	47530558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530558G>A	ENST00000426342.1	-	7	1271	c.525C>T	c.(523-525)atC>atT	p.I175I	MDGA2_ENST00000439988.2_Silent_p.I404I|MDGA2_ENST00000357362.3_Silent_p.I175I|MDGA2_ENST00000399232.2_Silent_p.I473I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	404	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAAATCAATGATGTCCAAGT	0.398000													47	83					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264322	118264322	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118264322A>G	ENST00000304058.4	-	4	379	c.309T>C	c.(307-309)gtT>gtC	p.V103V	DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000510708.1_Silent_p.V169V			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	169										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGAAGGATAAACAGGAGAAT	0.383000													8	96					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770572	90770572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90770572G>T	ENST00000355740.2	+	6	788	c.568_splice	c.e6+1	p.V190_splice	FAS_ENST00000352159.4_Splice_Site_p.V190_splice|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Intron|FAS_ENST00000355279.2_Splice_Site_p.V190_splice	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	190					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		AATTGTTTGGGGTAAGTTCTT	0.363000													14	181					0.000308642	0.000336111	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4791407	4791407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4791407C>T	ENST00000266544.5	+	9	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y	RP11-234B24.6_ENST00000544741.2_Silent_p.Y38Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TGGTGAAGTACATCTTTGCTG	0.428000													53	71					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44219462	44219462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44219462C>T	ENST00000395673.3	+	9	1544	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	EXT2_ENST00000343631.3_Silent_p.Y463Y|EXT2_ENST00000533608.1_Silent_p.Y463Y|EXT2_ENST00000358681.4_Silent_p.Y473Y	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	463					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCCTCACCTACGACCGAGTAG	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				23	55					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468835	160468835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160468835C>T	ENST00000356956.1	+	17	2389	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	747					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGAGGATAACTCCACCTACA	0.537000													29	56					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775028	98775028	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98775028C>A	ENST00000407474.3	+	4	1652	c.1139C>A	c.(1138-1140)aCc>aAc	p.T380N				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TTAGAAAATACCATGAAAGAC	0.423000													16	21					6.72482e-11	8.32712e-11	1	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3788265	3788265	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788265C>A	ENST00000440314.2	-	6	814		c.e6-1		EFCAB4B_ENST00000252322.1_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAAGTGACCTGGGGGGTGC	0.522000													17	35					9.16793e-09	1.10245e-08	1	1	0
E2F8	79733	broad.mit.edu	37	11	19246308	19246308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19246308G>A	ENST00000527884.1	-	13	2733	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	E2F8_ENST00000250024.4_Missense_Mutation_p.T834I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	834					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGAGCTGGTTGGCTTGGT	0.488000													11	74					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169630277	169630277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169630277G>A	ENST00000335742.7	+	9	1811	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	PALLD_ENST00000261509.6_Missense_Mutation_p.A534T|PALLD_ENST00000512127.1_Missense_Mutation_p.A152T|PALLD_ENST00000505667.1_Missense_Mutation_p.A534T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	534					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACCAGCACTGCCCAGCTGGT	0.493000									Pancreatic Cancer, Familial Clustering of				22	39					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35386236	35386236	+	Silent	SNP	A	A	G	rs150519290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35386236A>G	ENST00000378495.3	+	23	3015	c.2793A>G	c.(2791-2793)acA>acG	p.T931T	UNC13B_ENST00000396787.1_Silent_p.T943T|UNC13B_ENST00000378496.4_Silent_p.T931T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	931					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAACTCCACATATGAATATA	0.483000													3	54					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53641542	53641542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53641542C>T	ENST00000342160.3	-	22	2671	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	HUWE1_ENST00000262854.6_Missense_Mutation_p.M738I|HUWE1_ENST00000218328.8_Missense_Mutation_p.M738I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	738					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAAGCTCTGCATGGCCTGTA	0.473000													44	73					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37196095G>A	ENST00000274258.7	-	21	3906	c.319C>T	c.(319-321)Cga>Tga	p.R107*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.R1226*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358000													21	33					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898492	75898492	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75898492G>T	ENST00000377636.3	-	11	2425	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.S693S|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	693	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGACTGGAGGAAGAATTAC	0.418000													4	64					0.00909568	0.00947522	1	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863790	64863790	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64863790G>T	ENST00000313349.3	-	2	513	c.216C>A	c.(214-216)atC>atA	p.I72I	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	72	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTCCTCCTGGATCCGCCTCA	0.557000													6	74					0.0381472	0.0390147	1	1	0
PCDHA9	0	broad.mit.edu	37	5	140229842	140229842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140229842G>A	ENST00000378122.3	+	1	2486	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G588S|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGCCGGCGTAGTGGT	0.677000													4	55					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290354C>T	ENST00000549919.1	+	4	3199	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V|TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388000													29	36					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594754	64594754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594754G>A	ENST00000342711.5	-	33	4266	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1423					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGCACCTGCGCTGCTGCTTC	0.677000													5	63					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445293	150445293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445293C>T	ENST00000401000.4	+	10	3856	c.3791C>T	c.(3790-3792)tCt>tTt	p.S1264F	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S1290F			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1290	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCCTTTTCTACTCCACCC	0.622000													4	26					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114290930	114290930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114290930C>T	ENST00000375370.5	+	10	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C	TFDP1_ENST00000538138.1_Silent_p.C212C|TFDP1_ENST00000544902.1_Silent_p.C212C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	307	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCATGGCTTGCGGGCTGGAGT	0.517000										TSP Lung(29;0.18)			24	26					0	0	1	0	0
NSMCE1	197370	broad.mit.edu	37	16	27268844	27268844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27268844C>T	ENST00000361439.4	-	2	147	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	16					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGAGGAAGCGCCGGTGGACAT	0.542000													42	47					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420736	1420736	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1420736T>G	ENST00000270349.9	-	6	1002	c.875A>C	c.(874-876)gAc>gCc	p.D292A	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTGATGCCGTCTATGGCTCC	0.597000													40	61					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103287939	103287939	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103287939C>T	ENST00000376052.3	+	12	1412	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	TPP2_ENST00000376065.4_Silent_p.L466L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTTAGGTCTGAAAGCTAA	0.403000													21	34					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110685	48110685	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110685C>T	ENST00000422538.3	-	5	661	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ENDOU_ENST00000545824.2_Missense_Mutation_p.R117H|ENDOU_ENST00000542202.1_5'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.R139H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	180					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTTGGGCAGCGATCCACTTG	0.483000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	25					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717414	73717414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717414G>A	ENST00000264448.6	+	10	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2775					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358000													18	61					0	0	1	0	0
LAMTOR3	8649	broad.mit.edu	37	4	100805267	100805267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100805267G>A	ENST00000499666.2	-	6	445	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78C	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	85					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						AAAGGTAAACGATTAAATTGA	0.294000													16	32					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809028	7809028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7809028C>T	ENST00000315599.7	-	6	1000	c.978G>A	c.(976-978)acG>acA	p.T326T	CD209_ENST00000602261.1_Silent_p.T234T|CD209_ENST00000394173.4_Silent_p.T165T|CD209_ENST00000354397.6_Silent_p.T320T|CD209_ENST00000601951.1_Silent_p.T302T|CD209_ENST00000301357.8_Silent_p.T190T|CD209_ENST00000394161.5_Silent_p.T90T|CD209_ENST00000593660.1_Silent_p.T256T|CD209_ENST00000315591.8_Silent_p.T302T|CD209_ENST00000593821.1_Silent_p.T190T|CD209_ENST00000601256.1_Intron|CD209_ENST00000204801.8_Silent_p.T282T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	326	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCATTGCCACGTGCCTTCCT	0.522000													19	45					0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27822776	27822776	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27822776C>T	ENST00000356940.6	+	5	474	c.372C>T	c.(370-372)atC>atT	p.I124I	RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Silent_p.I79I	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	124					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAAATAAAATCGATAAGGTAA	0.313000													54	63					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57987134	57987134	+	Silent	SNP	G	G	A	rs140078393		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57987134G>A	ENST00000343280.4	-	3	353	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.D31D|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D31D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567000													22	34					0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170671750	170671750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170671750G>T	ENST00000393381.2	-	3	410	c.335C>A	c.(334-336)cCt>cAt	p.P112H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	112						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAACTCAGGAGGATCATAGTA	0.373000													7	189					0.000157383	0.00017284	1	1	0
TMEM145	284339	broad.mit.edu	37	19	42827796	42827796	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42827796T>C	ENST00000301204.3	+	14	1297	c.1256T>C	c.(1255-1257)aTc>aCc	p.I419T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	419						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGTCGCAGATCGCTTCAGCC	0.627000													6	35					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765701	5765701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5765701C>T	ENST00000414202.2	+	21	3231	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R898*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1014*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1014						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTCAGGAATCGAAGCATCAG	0.428000													15	190					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854399	12854399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854399A>G	ENST00000332296.7	+	3	726	c.623A>G	c.(622-624)cAa>cGa	p.Q208R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	208										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGTATTCAAGAGCTGGAA	0.398000													30	421					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241676556	241676556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241676556C>T	ENST00000498729.2	-	38	4177	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1210K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1210					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCAGGGACTCGTCGGTCTCT	0.612000													36	70					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42474972	42474972	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42474972A>G	ENST00000434000.1	-	9	4521	c.4239T>C	c.(4237-4239)ggT>ggC	p.G1413G	GPATCH8_ENST00000591680.1_Silent_p.G1491G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1491						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTCCTGACCTGAGAAGA	0.602000													6	29					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994230	49994230	+	Missense_Mutation	SNP	C	C	T	rs150662932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49994230C>T	ENST00000544141.1	-	4	1522	c.923G>A	c.(922-924)cGc>cAc	p.R308H	FAM186B_ENST00000257894.2_Missense_Mutation_p.R398H|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	398						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCTCGAGCGCACAGTCAT	0.547000													21	30					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67696122	67696122	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67696122T>C	ENST00000545606.1	+	8	1457	c.1020T>C	c.(1018-1020)agT>agC	p.S340S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	340	Asp-rich.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATGAATACAGTGATGATGATG	0.368000													61	101					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167721318	167721318	+	Missense_Mutation	SNP	G	G	A	rs143452023	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167721318G>A	ENST00000230256.3	+	7	1203	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301H	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGACCTCGTGCTGACCAT	0.617000													22	48					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225082	206225082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206225082G>A	ENST00000367126.4	+	1	1107	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	214					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTGACCATGCTCACGGCCT	0.617000													39	51					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110463620	110463620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110463620G>T	ENST00000261739.4	+	8	1041	c.875G>T	c.(874-876)aGa>aTa	p.R292I		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGT	0.398000													16	58					6.31663e-08	7.49729e-08	1	1	0
TFG	10342	broad.mit.edu	37	3	100455466	100455466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100455466C>T	ENST00000240851.4	+	6	967	c.627C>T	c.(625-627)agC>agT	p.S209S	TFG_ENST00000418917.2_Silent_p.S209S|TFG_ENST00000476228.1_Silent_p.S209S|TFG_ENST00000490574.1_Silent_p.S209S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	209					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCGACAGCATTGCTTCCT	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								17	22					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600234	92600234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92600234C>T	ENST00000298047.6	+	21	12003	c.11986C>T	c.(11986-11988)Ctg>Ttg	p.L3996L	FAT3_ENST00000525166.1_Silent_p.L3846L|FAT3_ENST00000409404.2_Silent_p.L3996L|FAT3_ENST00000533797.1_Silent_p.L331L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3996	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAACAATGAGCTGCCGCTGCA	0.637000										TCGA Ovarian(4;0.039)			4	5					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1425035	1425035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:1425035G>T	ENST00000446702.2	+	19	3087	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	CNTN6_ENST00000350110.2_Missense_Mutation_p.E820D|CNTN6_ENST00000539053.1_Missense_Mutation_p.E748D			Q9UQ52	CNTN6_HUMAN	contactin 6	820	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAAATGGAGGTTTCATGGA	0.433000													18	226					2.35188e-11	2.93101e-11	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89039186	89039186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89039186G>A	ENST00000251038.5	+	6	921	c.696G>A	c.(694-696)ttG>ttA	p.L232L	ZC3H14_ENST00000302216.8_Silent_p.L232L|ZC3H14_ENST00000359301.3_Silent_p.L198L|ZC3H14_ENST00000555755.1_Silent_p.L232L|ZC3H14_ENST00000557607.1_Silent_p.L77L|ZC3H14_ENST00000556945.1_Silent_p.L232L|ZC3H14_ENST00000393514.5_Silent_p.L232L|ZC3H14_ENST00000336693.4_Silent_p.L198L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	232						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAAACAGGTTGCAATTTCAAC	0.418000													49	87					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492096	247492096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492096G>T	ENST00000294753.4	-	4	927	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	ZNF496_ENST00000366498.2_Missense_Mutation_p.P155T	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	155					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCTCTACCGGCAGCTGCTCC	0.602000													11	167					7.03913e-09	8.47891e-09	1	1	0
SNRNP70	6625	broad.mit.edu	37	19	49610962	49610962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49610962G>A	ENST00000221448.5	+	9	854	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNRNP70_ENST00000598441.1_Missense_Mutation_p.D220N	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	220					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTCCCGCTACGATGAGAGGTA	0.677000													21	16					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124092006	124092006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124092006G>T	ENST00000368994.2	+	13	1396	c.1145G>T	c.(1144-1146)aGa>aTa	p.R382I	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.R381I			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	381										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAGGCTGTGAGATTTGGGCTG	0.517000													4	46					0.00116845	0.00124821	1	1	0
CEP112	201134	broad.mit.edu	37	17	63898328	63898328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63898328C>T	ENST00000392769.2	-	20	2323	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	CEP112_ENST00000541355.1_Missense_Mutation_p.R337H|CEP112_ENST00000535342.2_Missense_Mutation_p.R702H|CEP112_ENST00000537949.1_Missense_Mutation_p.R660H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	702						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTGGCAGCGCGAAGCTGTTT	0.413000													4	52					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799508	38799508	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38799508C>T	ENST00000308979.2	-	4	1218	c.945G>A	c.(943-945)ccG>ccA	p.P315P	TLR1_ENST00000502213.2_Silent_p.P315P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	315	Interaction with bacterial lipopeptide.		P -> L (in dbSNP:rs5743613).		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTGCGGAAAACCGA	0.418000													21	27					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517694	79517694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79517694G>T	ENST00000537152.1	-	3	898	c.373C>A	c.(373-375)Cat>Aat	p.H125N	C17orf70_ENST00000327787.8_Missense_Mutation_p.H276N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	276					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGTGATGGAGGATCTTG	0.577000													7	55					0.00198382	0.00210581	1	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202412287	202412287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202412287C>A	ENST00000439140.1	-	10	1068	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D342Y	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	342										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTAGCTTTATCTATCCATGTA	0.269000													6	15					0.000157383	0.00017284	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86917129	86917129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86917129C>A	ENST00000376238.4	-	5	559	c.510G>T	c.(508-510)tgG>tgT	p.W170C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W101C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	170					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGCCAGAACCAATGGCTGT	0.413000													11	65					4.3838e-07	5.12524e-07	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77305273	77305273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77305273C>A	ENST00000388914.3	-	5	846	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E232*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	232			E -> D (in dbSNP:rs17001889).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAAGAAATCTCTGTGTCTAAT	0.343000													16	27					2.48551e-13	3.1506e-13	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243504455	243504455	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243504455C>T	ENST00000366541.3	+	11	1454	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R301W|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R403W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	446	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCTGGCTTCTCGGGAAATGGA	0.373000													21	63					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625598	154625598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154625598G>A	ENST00000260010.6	+	1	2947	c.1539G>A	c.(1537-1539)acG>acA	p.T513T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	513					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATAACTACGTTTTCTAAGG	0.393000													30	43					0	0	1	0	0
CHCHD2	51142	broad.mit.edu	37	7	56171941	56171941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171941G>A	ENST00000395422.3	-	2	440	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	93						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAGGCCTCGCAGGCTCAGC	0.532000													31	96					0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17625336	17625336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17625336A>G	ENST00000237380.6	+	4	476	c.452A>G	c.(451-453)aAa>aGa	p.K151R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GTGCAGCACAAAAAGCCCGCC	0.557000													4	35					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903412	32903412	+	Missense_Mutation	SNP	T	T	C	rs35339338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32903412T>C	ENST00000418107.2	-	4	902	c.640A>G	c.(640-642)Atg>Gtg	p.M214V		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	214	Connecting peptide (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGGTCTGCATGGGGGACAGC	0.537000													17	27					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96407006	96407006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96407006C>T	ENST00000228740.2	-	14	1480	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	LTA4H_ENST00000413268.2_Missense_Mutation_p.A423T|LTA4H_ENST00000552789.1_Missense_Mutation_p.A423T|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	447					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TAGAGCCAGGCATTCCAATCA	0.393000													9	52					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609157	609157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609157C>T	ENST00000264555.5	+	14	3829	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	PHRF1_ENST00000416188.2_Missense_Mutation_p.T1233M|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1230M|PHRF1_ENST00000413872.2_Missense_Mutation_p.T1232M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1234							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGTGGCTACGGCCGACAAG	0.692000													9	33					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506778	152506778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506778C>T	ENST00000427231.2	-	54	7545	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H|NEB_ENST00000604864.1_Missense_Mutation_p.R2448H|NEB_ENST00000172853.10_Missense_Mutation_p.R2448H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463000													29	47					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9801418	9801418	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9801418G>A	ENST00000226193.5	-	3	1037	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RCVRN_ENST00000570909.2_Silent_p.N68N	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	199					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCATCAGGCGTTCTTCATCT	0.507000													63	89					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35601596	35601596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35601596C>T	ENST00000353139.5	-	21	3131	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ACACA_ENST00000335166.5_Missense_Mutation_p.E769K|ACACA_ENST00000360679.3_Missense_Mutation_p.E789K|ACACA_ENST00000394406.2_Missense_Mutation_p.E847K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	847					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAGTTTCTCGCCTCTGAGT	0.453000													28	47					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63127961	63127961	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63127961C>A	ENST00000561311.1	+	55	7384	c.7154C>A	c.(7153-7155)gCa>gAa	p.A2385E	TLN2_ENST00000306829.6_Missense_Mutation_p.A2385E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2385	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAATGCTGCAGACGACGGA	0.592000													8	92					3.86212e-05	4.30401e-05	1	1	0
KMO	8564	broad.mit.edu	37	1	241725562	241725562	+	Missense_Mutation	SNP	G	G	A	rs147782357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241725562G>A	ENST00000366559.4	+	7	856	c.545G>A	c.(544-546)cGc>cAc	p.R182H	KMO_ENST00000366557.4_Missense_Mutation_p.R182H|KMO_ENST00000366558.3_Missense_Mutation_p.R182H|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGAAACCTCGCTTTGATTAC	0.443000													48	65					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089840	113089840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113089840G>A	ENST00000409871.1	+	12	3746	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	ZC3H6_ENST00000343936.4_Silent_p.A1115A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1115							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCCACAGGCGGACGTTCCCA	0.527000													13	16					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642000													58	101					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64619315	64619315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64619315G>T	ENST00000357395.3	+	86	15972	c.4828G>T	c.(4828-4830)Gca>Tca	p.A1610S	SYNE2_ENST00000555002.1_Missense_Mutation_p.A1859S|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1610S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5225S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5142S|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5225S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5225					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAATCCAAAGCACTAGATGA	0.353000													19	29					2.37509e-13	3.01126e-13	1	1	0
ANXA6	309	broad.mit.edu	37	5	150488054	150488054	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150488054T>C	ENST00000354546.5	-	23	1969	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	ANXA6_ENST00000523714.1_Missense_Mutation_p.E549G|ANXA6_ENST00000377751.5_Missense_Mutation_p.E238G|ANXA6_ENST00000356496.5_Missense_Mutation_p.E575G|ANXA6_ENST00000521512.1_Missense_Mutation_p.E368G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	581						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGACATCTCCTTCTTGAT	0.537000													83	114					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159900180	159900180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159900180C>T	ENST00000368094.1	-	15	2060	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P605P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	621						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGAGGCGGTATCTCTG	0.662000													23	73					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188713	57188713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:57188713C>A	ENST00000331162.4	-	5	679	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCCTTGTGCACCTCATATTCA	0.318000													8	179					0.000157383	0.00017284	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3660180	3660180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3660180G>T	ENST00000356518.2	-	2	377	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ADAM33_ENST00000379861.4_Missense_Mutation_p.L46M|ADAM33_ENST00000350009.2_Missense_Mutation_p.L46M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTCCATCCAGGACCCAGTGC	0.637000													6	8					0.000442599	0.00048047	1	1	0
PTBP1	5725	broad.mit.edu	37	19	808591	808591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:808591G>A	ENST00000356948.6	+	13	1715	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PTBP1_ENST00000349038.4_Missense_Mutation_p.R405H|PTBP1_ENST00000350092.4_Missense_Mutation_p.R71H|PTBP1_ENST00000394601.4_Missense_Mutation_p.R424H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	405					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCCATCCGCATCACGCTC	0.692000													6	3					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005518	42005518	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005518C>T	ENST00000395925.3	-	15	3237	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCCCTCGGGCCGCGTGTAAT	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	33					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5590372	5590372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5590372G>A	ENST00000252542.4	-	18	2706	c.2442C>T	c.(2440-2442)caC>caT	p.H814H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	814	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGTCCCGGCCGTGGCGCTCTG	0.677000													6	19					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540818	65540818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540818C>A	ENST00000356388.4	-	6	1263	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SPRED2_ENST00000443619.2_Missense_Mutation_p.E355D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	358	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATAGTCTCCCTCGGGGTCCG	0.582000													11	28					0.000978159	0.00105116	1	1	0
ZNF492	57615	broad.mit.edu	37	19	22846798	22846798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22846798G>T	ENST00000456783.2	+	4	571	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CGACTACCCAGAACAAAATAT	0.308000													4	12					0.000602214	0.000649039	1	1	0
SACS	26278	broad.mit.edu	37	13	23907741	23907741	+	Missense_Mutation	SNP	T	T	C	rs147317123	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23907741T>C	ENST00000382298.3	-	10	10862	c.10274A>G	c.(10273-10275)aAa>aGa	p.K3425R	SACS_ENST00000382292.3_Missense_Mutation_p.K3425R|SACS_ENST00000402364.1_Missense_Mutation_p.K2675R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3425					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCCAAATTTTCCAATGCT	0.363000													14	86					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509872	24509872	+	Silent	SNP	G	G	A	rs144567766	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24509872G>A	ENST00000264463.4	-	7	1566	c.1059C>T	c.(1057-1059)acC>acT	p.T353T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368000										HNSCC(23;0.051)			22	35					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488000													110	118					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35512704	35512704	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35512704T>C	ENST00000353139.5	-	43	5831		c.e43-2		ACACA_ENST00000361253.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTATCCCTGTGAAGCACA	0.378000													7	89					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174713	11174713	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174713A>C	ENST00000390673.2	-	1	506	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTTTGTCCACACTCTCTCATC	0.388000													44	68					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721803	137721803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721803G>A	ENST00000314358.5	+	7	1073	c.873G>A	c.(871-873)tcG>tcA	p.S291S		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	291					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTGCTTCGGACTCTGGGT	0.493000													24	45					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101702006	101702006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101702006G>A	ENST00000261637.4	+	18	2213	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	680					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTATATTACGCCAGGCAGAA	0.418000													28	37					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38175457	38175457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38175457G>A	ENST00000333167.8	-	3	481	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_ENST00000301810.7_Silent_p.I103I|ACAA1_ENST00000450296.1_Silent_p.I103I|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Silent_p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	103					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.I103I(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537000													17	22					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38821333	38821333	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38821333G>T	ENST00000476049.1	-	1	60	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	KRT222_ENST00000394052.3_Missense_Mutation_p.L7I			Q8N1A0	KT222_HUMAN	keratin 222	7						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTCATTGAGTAGCTGGGAC	0.488000													13	158					1.15088e-07	1.35723e-07	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32279930	32279930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32279930C>A	ENST00000360482.2	-	2	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	SPOCD1_ENST00000373648.2_Missense_Mutation_p.Q335H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q335H|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	335					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGCAGAGGCCTGTGCTGACG	0.657000													3	16					0.004672	0.0049138	1	1	0
SSPO	23145	broad.mit.edu	37	7	149486406	149486406	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149486406A>G	ENST00000378016.2	+	0	4382							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGTGCCGATGGACGCTGC	0.677000													3	42					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566387	45566387	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566387C>T	ENST00000588982.1	-	3	1593	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ZBTB7C_ENST00000586438.1_Silent_p.Q364Q|ZBTB7C_ENST00000535628.2_Silent_p.Q364Q|ZBTB7C_ENST00000590800.1_Silent_p.Q364Q|ZBTB7C_ENST00000332053.2_Silent_p.Q364Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCT	0.622000													29	61					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112054488	112054488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:112054488C>A	ENST00000371959.3	-	3	1525	c.1526G>T	c.(1525-1527)aGg>aTg	p.R509M	AMOT_ENST00000524145.1_Missense_Mutation_p.R509M|AMOT_ENST00000371958.1_Missense_Mutation_p.R277M|AMOT_ENST00000304758.1_Missense_Mutation_p.R100M|AMOT_ENST00000371962.1_Missense_Mutation_p.R277M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	509					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.R100M(1)|p.R509M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTCAGATCCCTGTTGAAATC	0.502000													21	237					3.62473e-10	4.44982e-10	1	1	0
FTHL17	53940	broad.mit.edu	37	X	31089585	31089585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31089585C>T	ENST00000359202.3	-	1	585	c.486G>A	c.(484-486)ccG>ccA	p.P162P		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	162					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCCGGCTTCCGGGGAACAAA	0.612000													15	25					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111674654	111674654	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111674654T>C	ENST00000374647.5	-	11	1386	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H11R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	360					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGAACATGCAGCCGGTA	0.512000													6	35					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465199	10465199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10465199C>A	ENST00000525621.1	-	19	3185	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	TYK2_ENST00000264818.6_Missense_Mutation_p.D902Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D717Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	902	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCCAGATCTCGGATCTTT	0.552000													10	48					2.27111e-07	2.66951e-07	1	1	0
BCOR	54880	broad.mit.edu	37	X	39933021	39933021	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39933021C>T	ENST00000342274.4	-	4	1940	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	BCOR_ENST00000378444.4_Silent_p.S526S|BCOR_ENST00000397354.3_Silent_p.S526S|BCOR_ENST00000378455.4_Silent_p.S526S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTTTCAGCGACATGCTTT	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						22	26					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79443853	79443853	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443853T>C	ENST00000264895.6	+	69	11139	c.10699T>C	c.(10699-10701)Ttg>Ctg	p.L3567L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3562					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCTTTCGTATTGACTCCAGA	0.433000													14	10					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627188	21627188	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21627188G>T	ENST00000425654.2	+	19	2535		c.e19-1		CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTCTACAGATGAGTTGCG	0.453000													6	42					0.00116845	0.00124821	1	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369282	86369282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369282G>A	ENST00000400286.2	-	2	1960	c.1362C>T	c.(1360-1362)acC>acT	p.T454T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	454						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGATTAAAGGTTCCTGGCA	0.358000													32	60					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91675536	91675536	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91675536A>G	ENST00000298274.8	+	4	3243	c.3243A>G	c.(3241-3243)ccA>ccG	p.P1081P	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1118					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ccttcatcccaaggagggttt	0.348000													8	180					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49785313	49785313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49785313C>T	ENST00000321599.4	-	2	462	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	IP6K1_ENST00000468463.1_Missense_Mutation_p.R54Q|IP6K1_ENST00000460540.1_Intron|IP6K1_ENST00000395238.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	54					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCGCTGTTCCCGGGAGATGAG	0.557000													9	42					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127834173	127834173	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127834173T>C	ENST00000556132.1	-	4	2212	c.1348A>G	c.(1348-1350)Aga>Gga	p.R450G	SOGA3_ENST00000525778.1_Missense_Mutation_p.R450G|SOGA3_ENST00000368268.2_Missense_Mutation_p.R450G|SOGA3_ENST00000465909.2_Missense_Mutation_p.R450G|SOGA3_ENST00000481848.2_Missense_Mutation_p.R450G	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	450						integral to membrane											TGGTGAAGTCTCACAGATACA	0.313000													6	9					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106327	27106327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106327C>T	ENST00000324856.7	+	20	6309	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1763C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1597C|ARID1A_ENST00000540690.1_Missense_Mutation_p.R308C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1980					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTTGCCAAGCGCTGCGTCTG	0.537000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								31	55					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273855	10273855	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10273855C>T	ENST00000254976.2	+	5	421	c.210C>T	c.(208-210)gaC>gaT	p.D70D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	70	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCAATAAGGACATGAAAGAAG	0.438000													9	95					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449270	89449270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89449270C>A	ENST00000399794.2	-	3	955	c.240G>T	c.(238-240)aaG>aaT	p.K80N	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.K80N|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	80	RRM.						nucleotide binding|RNA binding										CTTGTTCCACCTTGATGGCTT	0.478000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	141					2.35958e-20	3.09731e-20	1	1	0
LEPRE1	64175	broad.mit.edu	37	1	43220608	43220608	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43220608T>C	ENST00000236040.4	-	8	1317	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	LEPRE1_ENST00000296388.5_Missense_Mutation_p.K426R|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K426R	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	426					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCGATTTCCTTCATAAGGTT	0.557000													5	44					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797637	57797637	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797637T>G	ENST00000309042.7	+	4	2927	c.2613T>G	c.(2611-2613)aaT>aaG	p.N871K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	871					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAGGAAAATTTAAGAGAAG	0.438000													62	90					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474940	151474940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151474940C>A	ENST00000356517.3	+	5	873	c.764C>A	c.(763-765)aCc>aAc	p.T255N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	255						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATTTCACCAAGGATGAA	0.403000													48	103					5.57489e-27	7.43239e-27	1	1	0
CHRND	1144	broad.mit.edu	37	2	233399045	233399045	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233399045A>G	ENST00000258385.3	+	11	1396	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CHRND_ENST00000457943.2_Missense_Mutation_p.Y261C|CHRND_ENST00000543200.1_Missense_Mutation_p.Y440C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	455					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGAACAATTACAATGAGGTA	0.493000													19	31					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56335065	56335065	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56335065T>C	ENST00000331886.5	+	14	1585	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	DGKA_ENST00000551156.1_Silent_p.L377L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L377L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	377	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCACTTCTCGTCTTTG	0.498000													46	80					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49849918	49849918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849918C>A	ENST00000333486.3	-	6	775	c.617G>T	c.(616-618)gGa>gTa	p.G206V	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACCAAGTCTCCATCACGGAA	0.567000													4	52					0.000602214	0.000649039	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61459678	61459678	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61459678G>A	ENST00000398019.2	+	3	544		c.e3+1		SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000540675.1_Intron	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATAGTCAGGTAAAGACAAT	0.443000													23	35					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220179606	220179606	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220179606T>G	ENST00000366923.3	-	15	2061	c.1792A>C	c.(1792-1794)Aac>Cac	p.N598H	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	598	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAGTCTTTGTTTTCCAAATTC	0.353000													10	87					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9735165	9735165	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9735165A>G	ENST00000318950.6	+	3	496	c.393A>G	c.(391-393)ccA>ccG	p.P131P	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	131						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAAGTATCCATTAATTATTG	0.343000													6	207					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838767	215838767	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215838767C>A	ENST00000272895.7	-	36	5688		c.e36-1		ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACACTGTCTGCAAGTTAA	0.368000													19	34					1.67942e-08	2.01326e-08	1	1	0
NR1H3	10062	broad.mit.edu	37	11	47282815	47282815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282815C>T	ENST00000467728.1	+	4	1761	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NR1H3_ENST00000481889.2_Missense_Mutation_p.R130C|NR1H3_ENST00000405576.1_Missense_Mutation_p.R130C|NR1H3_ENST00000407404.1_Missense_Mutation_p.R175C|NR1H3_ENST00000527949.1_Missense_Mutation_p.R84C|NR1H3_ENST00000441012.2_Missense_Mutation_p.R175C|NR1H3_ENST00000395397.3_Missense_Mutation_p.R130C|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R175C			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	175					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGAACAGATCCGCCTGAAGAA	0.597000													12	11					0	0	1	0	0
SCAMP2	10066	broad.mit.edu	37	15	75140965	75140965	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75140965A>G	ENST00000268099.9	-	7	819	c.710T>C	c.(709-711)gTt>gCt	p.V237A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGGATGCCAACCAACTGGAT	0.483000													3	30					0	0	1	0	0
CYP2B7P1	0	broad.mit.edu	37	19	41448108	41448108	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41448108G>A	ENST00000599198.1	+	0	1015					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCCTCATGTCGCAGGTGGGCC	0.572000													11	21					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69787427	69787427	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69787427G>T	ENST00000337827.4	+	2	504		c.e2-1		GALNT16_ENST00000448469.3_Splice_Site|GALNT16_ENST00000553669.1_Splice_Site	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CTTCATCTCAGGTGACAGGAA	0.607000													24	57					1.10923e-09	1.35296e-09	1	1	0
SGK2	10110	broad.mit.edu	37	20	42194986	42194986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42194986C>T	ENST00000341458.4	+	1	250	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.P11S|SGK2_ENST00000423407.3_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	11					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGGTAGGAAACCCTCAGGCGG	0.577000													40	54					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159536950	159536950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159536950C>A	ENST00000389757.3	+	21	3336	c.3211C>A	c.(3211-3213)Ctg>Atg	p.L1071M	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.L1114M|AC005042.4_ENST00000442666.1_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1114					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCATCAACAGCTGTATTATAG	0.328000										HNSCC(62;0.18)			33	67					2.42023e-17	3.13592e-17	1	1	0
ACOX1	51	broad.mit.edu	37	17	73951917	73951917	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951917G>T	ENST00000537812.1	-	5	1184	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACOX1_ENST00000301608.4_Missense_Mutation_p.P217H|ACOX1_ENST00000293217.5_Missense_Mutation_p.P217H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	217					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTGGCAAAGGCTTATGGGT	0.428000													24	209					7.92952e-12	9.92272e-12	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31598957	31598957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31598957C>T	ENST00000376033.2	+	16	2741	c.2507C>T	c.(2506-2508)gCc>gTc	p.A836V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A836V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	836	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTATCTGGCCAGTTATCCA	0.577000													31	60					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252823	124252823	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124252823C>A	ENST00000375013.2	-	1	435	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAACAGACCTGATGGGACA	0.463000													8	13					5.4927e-09	6.6252e-09	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3078900	3078900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3078900C>T	ENST00000397461.1	+	17	2364	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	CNTN4_ENST00000427331.1_Silent_p.T660T|CNTN4_ENST00000358480.3_Silent_p.T441T|CNTN4_ENST00000418658.1_Silent_p.T660T|CNTN4_ENST00000397459.2_Silent_p.T332T|CNTN4_ENST00000448906.2_Silent_p.T332T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	660	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCACAGCGACCGTGGTGGGTT	0.498000													80	108					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440773	145440773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145440773C>A	ENST00000369317.4	+	6	1307	c.973C>A	c.(973-975)Cct>Act	p.P325T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	325					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAACATCCCTGATACCCC	0.498000													5	93					0.000602214	0.000649039	1	1	0
KIF1A	547	broad.mit.edu	37	2	241722503	241722503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241722503C>T	ENST00000498729.2	-	9	1068	c.822G>A	c.(820-822)tcG>tcA	p.S274S	KIF1A_ENST00000320389.7_Silent_p.S274S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGGTCAGCGACTTGTTGA	0.652000													22	38					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36214652	36214652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36214652G>A	ENST00000420124.1	+	8	3078	c.3078G>A	c.(3076-3078)acG>acA	p.T1026T	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.T1026T																							TAGTGAAGACGCTGTTGCCCT	0.657000													4	8					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52946575	52946575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52946575C>T	ENST00000394752.3	-	16	2091	c.1709G>A	c.(1708-1710)tGt>tAt	p.C570Y	SFMBT1_ENST00000296295.6_Missense_Mutation_p.C570Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.C570Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.C570Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	570					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTCCCCACATCCGTGCCA	0.478000													21	40					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355430	31355430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31355430C>T	ENST00000542188.1	-	7	1220	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	TRPM1_ENST00000256552.6_Missense_Mutation_p.V286I|TRPM1_ENST00000397795.2_Missense_Mutation_p.V264I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	264					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592000													24	64					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72136267	72136267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72136267G>A	ENST00000355790.4	-	2	500	c.23C>T	c.(22-24)gCc>gTc	p.A8V	LRRC20_ENST00000395010.1_Missense_Mutation_p.A8V|LRRC20_ENST00000358141.2_Missense_Mutation_p.A8V|LRRC20_ENST00000373224.1_Missense_Mutation_p.A8V|LRRC20_ENST00000395011.1_Missense_Mutation_p.A8V	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	8										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTGGCCACGGCCTCACCCAT	0.612000													40	56					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25009094	25009094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25009094G>A	ENST00000381989.3	-	31	4290	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1395					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCCACAATAGGGTGAAGAAG	0.552000													16	22					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72141254	72141254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141254C>T	ENST00000268482.3	+	20	3125	c.2616C>T	c.(2614-2616)agC>agT	p.S872S	DHX38_ENST00000536867.1_Silent_p.S184S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	872	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACCCAGAGCGCCTACAAGA	0.592000													17	29					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140249965	140249965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249965C>T	ENST00000398640.2	+	1	1277	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACTGCGCGGGATGGG	0.622000													44	75					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19118978	19118978	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19118978C>A	ENST00000399635.2	+	1	658	c.66C>A	c.(64-66)tcC>tcA	p.S22S	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAGGGTTCCTACGCAAAAG	0.517000													15	20					0.00244969	0.00259885	1	1	0
STAT6	6778	broad.mit.edu	37	12	57490680	57490680	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57490680T>A	ENST00000300134.3	-	21	2632	c.2307A>T	c.(2305-2307)gaA>gaT	p.E769D	STAT6_ENST00000538913.2_Missense_Mutation_p.E659D|STAT6_ENST00000537215.2_Missense_Mutation_p.E659D|STAT6_ENST00000556155.1_Missense_Mutation_p.E769D|STAT6_ENST00000543873.2_Missense_Mutation_p.E769D|STAT6_ENST00000454075.3_Missense_Mutation_p.E769D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	769					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAGCTGTCTTCCACCATGG	0.642000													4	40					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798334	148798334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148798334G>T	ENST00000355220.5	+	5	1290	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K367N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	396	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGACCAGCAAGATGAAAGTTC	0.547000													9	204					3.09899e-07	3.63227e-07	1	1	0
TJP2	9414	broad.mit.edu	37	9	71833262	71833262	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71833262A>G	ENST00000377245.4	+	4	537	c.329A>G	c.(328-330)aAg>aGg	p.K110R	TJP2_ENST00000453658.2_Missense_Mutation_p.K87R|TJP2_ENST00000265384.7_Missense_Mutation_p.K110R|TJP2_ENST00000377259.1_Missense_Mutation_p.K87R|TJP2_ENST00000539225.1_Missense_Mutation_p.K141R|TJP2_ENST00000535702.1_Missense_Mutation_p.K114R|TJP2_ENST00000348208.4_Missense_Mutation_p.K110R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	110	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGTGGGAAGGTCGCTGCT	0.433000													10	21					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124812	110124812	+	Missense_Mutation	SNP	C	C	T	rs142346566	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124812C>T	ENST00000343115.4	-	9	1137	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.R137H	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343000													22	22					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681715	233681715	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681715G>T	ENST00000373566.3	+	21	2606	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	GIGYF2_ENST00000409451.3_Missense_Mutation_p.E802D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E775D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E803D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E781D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E781D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E612D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	781	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGGCGAGAGGAAGAAGAAC	0.473000													10	252					5.16669e-11	6.41398e-11	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71491726	71491726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71491726C>T	ENST00000296755.7	+	5	2842	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	848						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGTCGATGTAACAA	0.488000													49	78					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	550080	550080	+	Silent	SNP	C	C	T	rs140852130	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:550080C>T	ENST00000270115.7	+	8	932	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	144										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACTCTACGCCTCCTACA	0.657000													33	67					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57627032	57627032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57627032C>T	ENST00000328923.3	+	8	1379	c.927C>T	c.(925-927)taC>taT	p.Y309Y	SHMT2_ENST00000553474.1_Silent_p.Y288Y|SHMT2_ENST00000557487.1_Silent_p.Y299Y|SHMT2_ENST00000414700.3_Silent_p.Y288Y|SHMT2_ENST00000393827.4_Silent_p.Y213Y|SHMT2_ENST00000449049.3_Silent_p.Y288Y	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	309						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGATCCCTTACACATTTGAGG	0.567000													12	32					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82615065	82615065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82615065G>T	ENST00000521895.1	-	7	602	c.343C>A	c.(343-345)Ctt>Att	p.L115I	ZFAND1_ENST00000521287.1_Silent_p.A117A|ZFAND1_ENST00000522520.1_Silent_p.A117A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000220669.5_Silent_p.A224A|ZFAND1_ENST00000523096.1_Silent_p.A217A			Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	0							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAGGGTAAGGCTTCTCCTG	0.358000													7	141					0.00448238	0.00472561	1	1	0
EFEMP1	2202	broad.mit.edu	37	2	56144875	56144875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56144875G>A	ENST00000394555.2	-	4	877	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	EFEMP1_ENST00000424836.2_Missense_Mutation_p.R90C|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R148C|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R148C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	148					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGGAATGCGCTGAGGGTCA	0.552000													38	54					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862761	58862761	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58862761G>A	ENST00000263100.3	-	5	967	c.906C>T	c.(904-906)agC>agT	p.S302S	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	302	Ig-like V-type 4.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCTCACCATCGCTCAGAATCA	0.667000													40	48					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033091	117033091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117033091G>A	ENST00000371876.1	-	6	4016	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	KLHL13_ENST00000262820.3_Missense_Mutation_p.A583V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532V|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567V|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCGAAGACAGCGACCCCAAC	0.418000													75	99					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63667395	63667395	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63667395T>G	ENST00000402010.2	+	8	1160	c.581T>G	c.(580-582)tTt>tGt	p.F194C	MARK2_ENST00000350490.7_Missense_Mutation_p.F194C|MARK2_ENST00000413835.2_Missense_Mutation_p.F194C|MARK2_ENST00000513765.2_Missense_Mutation_p.F161C|MARK2_ENST00000425897.2_Missense_Mutation_p.F161C|MARK2_ENST00000377809.4_Missense_Mutation_p.F194C|MARK2_ENST00000361128.5_Missense_Mutation_p.F194C|MARK2_ENST00000315032.8_Missense_Mutation_p.F194C|MARK2_ENST00000502399.3_Missense_Mutation_p.F194C|MARK2_ENST00000377810.3_Missense_Mutation_p.F161C|MARK2_ENST00000508192.1_Missense_Mutation_p.F194C|MARK2_ENST00000408948.3_Missense_Mutation_p.F161C|MARK2_ENST00000509502.2_Missense_Mutation_p.F161C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	194	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTGCAGACTTTGGCTTCAGC	0.478000													19	166					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31393213	31393213	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31393213G>T	ENST00000328111.2	+	21	2622	c.2301_splice	c.e21+1	p.K767_splice	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.K759_splice|DNMT3B_ENST00000353855.2_Splice_Site_p.K747_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.K747_splice|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	767					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATAGCCAAGGTAAGACGAG	0.498000													21	29					5.26018e-13	6.65277e-13	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003402	75003402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75003402C>T	ENST00000373359.2	-	1	1677	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	495	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTCTGGCCAGTTCTGTG	0.478000													7	63					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38643407	38643407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38643407C>T	ENST00000299084.4	+	7	1737	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	293					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAGACTATCTGTACTCTTG	0.378000									Legius syndrome				27	39					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487720	21487720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21487720G>A	ENST00000313654.9	+	54	7077	c.6835_splice	c.e54-1	p.G2279_splice	LAMA3_ENST00000399516.3_Splice_Site_p.G2223_splice|LAMA3_ENST00000587184.1_Splice_Site_p.G614_splice|LAMA3_ENST00000269217.6_Splice_Site_p.G670_splice|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2279	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCATTAGGTGATATTGAT	0.443000													48	75					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36259311	36259311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36259311C>T	ENST00000396908.4	+	12	1377	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	C19orf55_ENST00000536037.1_Intron|C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGGAAGCGGATGCCCGA	0.627000													12	23					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155082	71155082	+	Missense_Mutation	SNP	G	G	A	rs80338853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71155082G>A	ENST00000355527.3	-	4	554	c.278C>T	c.(277-279)aCg>aTg	p.T93M	DHCR7_ENST00000407721.2_Missense_Mutation_p.T93M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	93			T -> M (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCTTTCCTCGTTATAGGTGG	0.632000									Smith-Lemli-Opitz syndrome				5	16					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42773749	42773749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42773749G>A	ENST00000379274.2	+	19	2354	c.1925G>A	c.(1924-1926)gGa>gAa	p.G642E	DGKH_ENST00000536612.1_Missense_Mutation_p.G642E|DGKH_ENST00000337343.4_Missense_Mutation_p.G778E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.G778E|DGKH_ENST00000538674.1_Missense_Mutation_p.G533E|DGKH_ENST00000261491.4_Missense_Mutation_p.G778E			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	778					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284000													7	15					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101587504	101587504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101587504C>T	ENST00000335681.5	+	12	1393	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	NPAS2_ENST00000542504.1_Missense_Mutation_p.P435S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	370					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGACCCGCCATCCGAGGC	0.557000													14	33					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48659143G>A	ENST00000330862.3	-	1	145	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	16						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672000													11	25					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923603	12923603	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923603C>A	ENST00000361905.4	+	10	1436	c.771C>A	c.(769-771)ggC>ggA	p.G257G	TEAD1_ENST00000526600.1_Silent_p.G176G|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Silent_p.G272G|TEAD1_ENST00000361985.2_Silent_p.G272G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	272	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAAAGGTGGCTTAAAGGAAC	0.423000													20	214					0.000132079	0.000145887	1	1	0
TTN	7273	broad.mit.edu	37	2	179592328	179592328	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179592328C>T	ENST00000589042.1	-	68	20201	c.19977G>A	c.(19975-19977)acG>acA	p.T6659T	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5415T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T6342T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6342	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCAACATCGTAGTACAAG	0.398000													76	109					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788324	80788324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788324G>A	ENST00000269394.3	-	3	2699	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.C223C	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	622						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTCCACCGCGCATGCGTCTG	0.706000													12	24					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108559743	108559743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108559743G>A	ENST00000526794.1	+	7	961	c.929G>A	c.(928-930)aGc>aAc	p.S310N	DDX10_ENST00000322536.3_Missense_Mutation_p.S310N			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	310	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTGAGAAGCCATCTGAAG	0.388000			T	NUP98	AML*								83	179					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232147	110232147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110232147G>A	ENST00000418703.2	-	7	1572	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	TRPV4_ENST00000541794.1_Missense_Mutation_p.P446L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P433L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P459L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P446L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P433L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P493L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P386L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	493					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCTCCAGCGGCTGGTAGTA	0.642000													6	37					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106310867	106310867	+	Nonsense_Mutation	SNP	T	T	A	rs35091797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310867T>A	ENST00000372487.1	-	7	1158	c.1132A>T	c.(1132-1134)Aaa>Taa	p.K378*	RBM41_ENST00000372479.3_Nonsense_Mutation_p.K378*	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	378	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACCAATATTTTCCCATGTAGT	0.343000													5	161					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64879239	64879239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64879239C>T	ENST00000555709.1	+	4	623	c.236C>T	c.(235-237)tCt>tTt	p.S79F	MTHFD1_ENST00000545908.1_Missense_Mutation_p.S135F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S135F|MTHFD1_ENST00000555252.1_Missense_Mutation_p.S59F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	79	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCACAGAATCTGAGGTGAGC	0.423000													19	36					0	0	1	0	0
CNPY3	10695	broad.mit.edu	37	6	42902286	42902286	+	Silent	SNP	G	G	A	rs75557671	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42902286G>A	ENST00000372836.4	+	2	596	c.225G>A	c.(223-225)acG>acA	p.T75T	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	75	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATTGGCACGGGCTATGGCA	0.562000													16	27					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101953841	101953841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101953841G>A	ENST00000434758.2	+	7	743	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	239										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAAGAATCATGAACAGACATT	0.308000													37	85					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323306	44323306	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44323306A>G	ENST00000354250.2	+	3	253	c.184A>G	c.(184-186)Aag>Gag	p.K62E	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGTGGAACCAAAGGAGAGGGG	0.418000													6	41					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47161785	47161785	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47161785G>T	ENST00000409792.3	-	3	4383	c.4341C>A	c.(4339-4341)ccC>ccA	p.P1447P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACACAGGAGGGCCCAACCA	0.478000			"""N, F, S, Mis"""		clear cell renal carcinoma								7	92					2.0095e-06	2.31757e-06	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29419357	29419357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29419357G>A	ENST00000283351.4	-	27	4236	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1247S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1301					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTACTGATGGCCTTGAGGAA	0.343000													36	42					0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46850956	46850956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46850956C>T	ENST00000238892.3	+	4	323	c.191C>T	c.(190-192)tCt>tTt	p.S64F	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	64						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAAAAGTTCTGTGCACCAA	0.328000													18	35					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46911189	46911189	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46911189C>T	ENST00000359759.4	+	21	3384	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	COL18A1_ENST00000355480.5_Silent_p.P886P|COL18A1_ENST00000400337.2_Silent_p.P706P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1121	Triple-helical region 4 (COL4).		P -> R.		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGCCCCCCCGGACCCCCGG	0.682000													7	33					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19381928	19381928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19381928G>A	ENST00000263208.5	-	8	1015	c.759C>T	c.(757-759)atC>atT	p.I253I	HIRA_ENST00000546308.1_Silent_p.I209I|HIRA_ENST00000541063.1_Silent_p.I209I|HIRA_ENST00000340170.4_Silent_p.I253I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	253					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCCGTTCGATGATCTGGG	0.572000													5	50					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32805576	32805576	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32805576G>T	ENST00000374897.2	-	2	566	c.435C>A	c.(433-435)tcC>tcA	p.S145S	TAP2_ENST00000374899.4_Silent_p.S145S|TAP2_ENST00000452392.2_Silent_p.S145S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	145					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGTCCGGCCTGGAGAGCTTCA	0.572000													21	22					4.63292e-17	5.99748e-17	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140865852	140865852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140865852G>A	ENST00000371372.1	+	11	1496	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A451T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A452T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A451T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A452T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	451					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCGCCCGCGCCAGCCTCAA	0.602000													4	6					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696646	47696646	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47696646T>A	ENST00000393331.3	-	6	772	c.302A>T	c.(301-303)aAa>aTa	p.K101I	SPOP_ENST00000347630.2_Missense_Mutation_p.K101I|SPOP_ENST00000504102.1_Missense_Mutation_p.K101I|SPOP_ENST00000503676.1_Missense_Mutation_p.K101I|SPOP_ENST00000393328.2_Missense_Mutation_p.K101I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	101	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTGAATTTTGCCCGAAC	0.408000										Prostate(2;0.17)			11	92					0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32586466	32586466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32586466G>A	ENST00000273130.4	-	4	573	c.470C>T	c.(469-471)aCt>aTt	p.T157I	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	157					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATCCAAAGCAGTCCAAGGCTT	0.398000													44	48					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65228624	65228624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65228624G>A	ENST00000234256.3	+	2	813	c.570_splice	c.e2+1	p.T190_splice	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	190					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T190T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTTTCCGTACGGTAAGGCTTG	0.373000													40	73					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86131545	86131545	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:86131545G>T	ENST00000224756.8	+	2	922	c.737G>T	c.(736-738)aGa>aTa	p.R246I	CCSER2_ENST00000372088.2_Missense_Mutation_p.R246I|CCSER2_ENST00000359979.4_Missense_Mutation_p.R246I	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TCCTTTAATAGAGCTGTGGAT	0.383000													4	89					1	1	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166747469	166747469	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166747469C>T	ENST00000243344.7	-	23	3117	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	994						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTAGGAGATCAATCAAACGA	0.338000													23	34					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088786	65088786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65088786G>T	ENST00000544348.1	+	2	1023	c.417G>T	c.(415-417)caG>caT	p.Q139H	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.Q139H|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.Q139H			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	139					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						AGACCCCTCAGCCTTCCCCAC	0.672000													23	36					1.10513e-12	1.39297e-12	1	1	0
KRT39	390792	broad.mit.edu	37	17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478000													34	49					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75561190	75561190	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75561190C>T	ENST00000604729.1	+	26	5715	c.5418C>T	c.(5416-5418)aaC>aaT	p.N1806N	ZSWIM8_ENST00000604524.1_Silent_p.N1627N|ZSWIM8_ENST00000398706.2_Silent_p.N1814N|ZSWIM8_ENST00000603114.1_Silent_p.N1768N|ZSWIM8_ENST00000605216.1_Silent_p.N1809N					zinc finger, SWIM-type containing 8																		TGCAGTTCAACGACATCCTAC	0.577000													11	21					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129765465	129765465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129765465G>T	ENST00000338144.3	-	14	2009	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	ENOX2_ENST00000370935.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.S531Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.S502Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	531					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCACGTTCAGATTTGATAGG	0.478000													43	91					5.44703e-19	7.11935e-19	1	1	0
BCL6B	255877	broad.mit.edu	37	17	6929875	6929875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6929875G>A	ENST00000293805.5	+	6	1081	c.989G>A	c.(988-990)tGt>tAt	p.C330Y		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	330						nucleus	zinc ion binding			skin(1)	1						CCCTATAAGTGTCAGCTGTGC	0.572000													49	60					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176105629	176105629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176105629C>T	ENST00000367669.3	-	7	1400	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	296					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTACTTCCACTCTCTTAATA	0.343000													7	26					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195053834	195053834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195053834C>T	ENST00000326793.6	-	8	822	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	198	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAATGGGCATACATAAAT	0.313000													4	42					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897065	50897065	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50897065T>G	ENST00000313478.7	-	21	3267	c.2986A>C	c.(2986-2988)Atg>Ctg	p.M996L	TRPM7_ENST00000560955.1_Missense_Mutation_p.M996L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	996					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACTTACCATTTTTCCAATC	0.289000													5	27					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612497	152612497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152612497G>A	ENST00000421401.3	+	4	531	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ZNF275_ENST00000370251.2_Silent_p.Q118Q|ZNF275_ENST00000370249.2_Silent_p.Q65Q|ZNF275_ENST00000440091.1_Silent_p.Q148Q	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	118						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTGTCCAGCACCAGAGAG	0.542000													21	28					0	0	1	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30521514	30521514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30521514T>C	ENST00000399935.2	+	8	742	c.75T>C	c.(73-75)gaT>gaC	p.D25D	MAP3K7CL_ENST00000341618.4_Silent_p.D125D|MAP3K7CL_ENST00000339024.4_Silent_p.D25D|MAP3K7CL_ENST00000399947.2_Silent_p.D125D|MAP3K7CL_ENST00000399928.1_Silent_p.D25D|MAP3K7CL_ENST00000399934.1_Silent_p.D25D|MAP3K7CL_ENST00000399926.1_Silent_p.D25D|MAP3K7CL_ENST00000399925.1_Silent_p.D25D|MAP3K7CL_ENST00000545939.1_Silent_p.D19D|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		TTTTAGATGATACACCCCCTG	0.413000													34	77					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549772	167549772	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549772T>G	ENST00000341935.5	+	3	606	c.54T>G	c.(52-54)taT>taG	p.Y18*	CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y18*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y18*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	18					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGAAGATTATTTTGTGTCAG	0.413000													56	87					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331643	8331643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8331643C>T	ENST00000381196.4	-	41	6016	c.5473G>A	c.(5473-5475)Ggc>Agc	p.G1825S	PTPRD_ENST00000356435.5_Missense_Mutation_p.G1825S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1419S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1415S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1825S|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1812S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1415S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1803S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1418S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1825	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1825R(2)|p.G1419R(1)|p.G1296R(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGACTTGGCCGATGAAGTCA	0.463000										TSP Lung(15;0.13)			6	126					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925354	38925354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38925354C>T	ENST00000274276.3	+	15	2495	c.2093C>T	c.(2092-2094)gCa>gTa	p.A698V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	698	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAGAAAAGGCATTGATTGTG	0.368000													37	59					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70237227	70237227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237227C>T	ENST00000553521.1	+	7	1863	c.410C>T	c.(409-411)gCg>gTg	p.A137V	SRSF5_ENST00000553635.1_Missense_Mutation_p.A134V|SRSF5_ENST00000394366.2_Missense_Mutation_p.A137V|SRSF5_ENST00000557154.1_Missense_Mutation_p.A137V|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	137	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						GTAACGTTTGCGGATGCACAC	0.373000													28	53					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115273208	115273208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115273208C>T	ENST00000438362.2	-	11	1628	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	CSDE1_ENST00000530886.1_Missense_Mutation_p.R241H|CSDE1_ENST00000369530.1_Missense_Mutation_p.R386H|CSDE1_ENST00000358528.4_Missense_Mutation_p.R371H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R340H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R371H|CSDE1_ENST00000339438.6_Missense_Mutation_p.R340H	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	371					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAACATACGAACATCACG	0.418000													11	63					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093189	211093189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211093189G>T	ENST00000367007.4	-	7	1343	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	KCNH1_ENST00000271751.4_Missense_Mutation_p.L419M	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	419					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTTGGTACAGCCAGCTGTTG	0.527000													37	61					2.20474e-14	2.81294e-14	1	1	0
INSC	387755	broad.mit.edu	37	11	15170751	15170751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15170751G>A	ENST00000379554.3	+	2	218	c.172G>A	c.(172-174)Gac>Aac	p.D58N	INSC_ENST00000379556.3_Missense_Mutation_p.D11N|INSC_ENST00000530161.1_Missense_Mutation_p.D11N|INSC_ENST00000424273.1_Missense_Mutation_p.D11N|INSC_ENST00000528567.1_Missense_Mutation_p.D11N|INSC_ENST00000525218.1_Missense_Mutation_p.D11N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	58					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGCCACCTGGACTCCGTCAC	0.607000													10	22					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740957	73740957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73740957G>A	ENST00000276033.5	+	2	951	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SLC16A2_ENST00000587091.1_Missense_Mutation_p.S188N			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	188						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCATACCAGCTCCTTCACC	0.502000													21	38					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203807607	203807607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203807607G>A	ENST00000320443.8	+	4	1266	c.223G>A	c.(223-225)Gca>Aca	p.A75T	CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.A63T|CARF_ENST00000444724.1_Missense_Mutation_p.A75T|CARF_ENST00000545262.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.A75T|CARF_ENST00000428585.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.A75T|CARF_ENST00000414439.1_Intron					calcium responsive transcription factor																		GACTCTTTCTGCAGAGCAATT	0.413000													5	52					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815811	179815811	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179815811T>A	ENST00000367612.3	-	6	1195	c.808A>T	c.(808-810)Agt>Tgt	p.S270C		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	270						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGGAAGGAACTCTGGCCTGGA	0.507000													40	63					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28964268	28964268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28964268G>T	ENST00000377179.3	-	7	1023	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTTTTAGGAGACTGTTAAAT	0.388000													22	64					9.95505e-16	1.27953e-15	1	1	0
SERPINB9	5272	broad.mit.edu	37	6	2890440	2890440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2890440C>A	ENST00000380698.4	-	7	1177	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	363					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGTTGGCTCTGTTGTGCCT	0.552000													5	40					0.014758	0.0152625	1	1	0
TMEM2	23670	broad.mit.edu	37	9	74345048	74345048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345048G>A	ENST00000377044.4	-	9	2434	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P569L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	632						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTATCGGTGGGCAGGAGAGT	0.458000													21	58					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127797171	127797171	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127797171G>A	ENST00000368679.4	-	8	1050	c.741C>T	c.(739-741)caC>caT	p.H247H	ADAM12_ENST00000368676.4_Silent_p.H247H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	247	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGTCAACGTGATTAGCAA	0.363000													24	47					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83119465	83119465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83119465G>T	ENST00000307792.3	-	2	708	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L21I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	81	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCAAGCTGAGGGAATATACA	0.403000													5	70					2.0095e-06	2.31757e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072507G>A	ENST00000389484.3	-	83	13773	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353000										TSP Lung(27;0.18)			13	29					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802625	233802625	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233802625G>A	ENST00000366621.3	+	2	808	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.E98K	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	214						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAACTTCCTGGAATCCTTTTA	0.483000													28	69					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960101	70960101	+	Silent	SNP	G	G	A	rs149154885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70960101G>A	ENST00000322954.6	-	16	3107	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	UACA_ENST00000539319.1_Silent_p.L865L|UACA_ENST00000379983.2_Silent_p.L961L|UACA_ENST00000560441.1_Silent_p.L959L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	974						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTATTGTGTCGAGCTCCTTCT	0.418000													49	67					0	0	1	0	0
C18orf32	497661	broad.mit.edu	37	18	47009974	47009974	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47009974T>G	ENST00000318240.3	-	2	356	c.145A>C	c.(145-147)Aaa>Caa	p.K49Q	C18orf32_ENST00000582392.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000584895.1_Silent_p.T225T|C18orf32_ENST00000579820.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000332968.6_Silent_p.T187T	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	49					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						ACTTTGCCTTTGTTTGTATCA	0.393000													23	177					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834476	61834476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61834476C>T	ENST00000280772.1	-	37	6354	c.6163G>A	c.(6163-6165)Gat>Aat	p.D2055N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2055					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTGCATCCTCAAACTTG	0.398000													6	115					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665976	665976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:665976G>A	ENST00000266383.5	+	15	2337	c.2324G>A	c.(2323-2325)tGc>tAc	p.C775Y		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	775						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAAGCTGTGCTGGCCTCAG	0.652000													10	17					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557133	214557133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214557133G>A	ENST00000366956.5	-	13	2259	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	689					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TACTGAGGGAGCTGGGGGACC	0.632000													25	23					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027504	91027504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027504G>A	ENST00000268182.5	+	30	3965	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V709M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1281	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAATTTAATGTGGATGAGTA	0.398000													23	74					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100124	3100124	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3100124A>G	ENST00000336577.4	+	3	584	c.347A>G	c.(346-348)aAg>aGg	p.K116R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	116					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AGCGTGTGGAAGAAGCGAACC	0.706000													10	63					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346195	152346195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152346195G>A	ENST00000359321.1	-	3	460	c.375C>T	c.(373-375)caC>caT	p.H125H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	125					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAGAAGTAAGTGGGTGCTAC	0.388000								Homologous recombination					49	38					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050173	110050173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050173G>A	ENST00000369864.4	-	2	1711	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	AMIGO1_ENST00000369862.1_Silent_p.N454N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	454				N -> S (in Ref. 4; AAH40879).	axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGCTTGCCGTTTTGACCCT	0.592000													27	67					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102881081	102881081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102881081T>C	ENST00000359520.7	+	5	815	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.Y197H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	197							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGCTCTTTTACACTGAAGA	0.453000													46	77					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207017192	207017192	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207017192A>T	ENST00000233190.5	-	3	370	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	NDUFS1_ENST00000455934.2_Missense_Mutation_p.F49Y|NDUFS1_ENST00000440274.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000449699.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000457011.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	35	2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCATCAACAAATACTTCAAT	0.383000													5	56					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131307	72131307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131307C>A	ENST00000265381.4	-	2	1042	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	274	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTCGGCCACTATCTGGTCG	0.677000													5	17					1	1	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47471062	47471062	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47471062A>G	ENST00000359314.5	+	2	507	c.51A>G	c.(49-51)gaA>gaG	p.E17E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373000													7	80					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882376	68882376	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68882376C>A	ENST00000303786.3	+	3	1270	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L284M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	284						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAAGACGGTCCTGGTGCTCAT	0.612000													11	32					0.0135373	0.0140872	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61986332	61986332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61986332C>T	ENST00000409186.1	-	5	4005	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D634N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	607	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACTGTTGTCATTTTTATCC	0.438000													4	49					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38948722	38948722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38948722G>T	ENST00000306658.7	-	8	1417	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	451	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCATTTTAGATGTCTTTTC	0.373000													6	36					3.59834e-05	4.01776e-05	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183853816	183853816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183853816G>A	ENST00000360982.2	-	10	1665	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R297W	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	297					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCATCCCGAAAGAGAGAG	0.403000													25	44					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412576	20412576	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20412576G>A	ENST00000375108.3	+	3	309	c.40_splice	c.e3-1	p.S14_splice	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	14					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TATCTTCCAGGTGTGCCTGCT	0.572000													7	18					0	0	1	0	0
C1orf86	199990	broad.mit.edu	37	1	2125253	2125253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2125253G>A	ENST00000378545.3	-	4	603	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	C1orf86_ENST00000378546.4_Missense_Mutation_p.R99C|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	99										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTAGGAACGGCCCGGGCCC	0.706000													18	25					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096604	6096604	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6096604T>C	ENST00000217289.4	-	3	1027	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	FERMT1_ENST00000536936.1_De_novo_Start_InFrame	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	80					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGGACCCCATATTTGTCCAG	0.488000													33	41					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47098653	47098653	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47098653C>T	ENST00000409792.3	-	15	6663	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2207	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCAAGGGCTGAGCATGAT	0.557000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	27					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22333432	22333432	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22333432G>A	ENST00000290122.3	+	5	443	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCAGCTCGCCTCACTCCC	0.622000													37	8					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240601	39240601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240601G>T	ENST00000391417.4	+	1	143	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTGTGTCCAGCTGCTGCAGG	0.647000													8	21					3.86212e-05	4.30401e-05	1	1	0
CLEC12A	160364	broad.mit.edu	37	12	10133229	10133229	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10133229G>T	ENST00000304361.4	+	4	610	c.428G>T	c.(427-429)aGc>aTc	p.S143I	CLEC12A_ENST00000350667.4_Missense_Mutation_p.S110I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S143I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S153I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	143	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATAAGGACAGCTGTTATTTC	0.393000													42	64					3.77016e-25	5.00944e-25	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16957837	16957837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16957837G>A	ENST00000379803.1	+	5	653	c.639G>A	c.(637-639)gtG>gtA	p.V213V	SIN3B_ENST00000596802.1_Silent_p.V213V|SIN3B_ENST00000248054.5_Silent_p.V213V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	213	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAGGAGGTGTTCACCGAGG	0.577000													26	33					0	0	1	0	0
CYP19A1	0	broad.mit.edu	37	15	51529161	51529161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51529161C>A	ENST00000396402.1	-	3	344	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP19A1_ENST00000260433.2_Missense_Mutation_p.R64I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.R64I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R64I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R64I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.R64I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	64					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCACAGGAATCTGCCGTGGGA	0.493000													4	75					0.00024832	0.0002712	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737922	62737922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62737922G>A	ENST00000369768.1	-	1	602	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	88						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCGGCGACGGCCAGGTTCAG	0.612000													8	12					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908009	65908009	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65908009G>T	ENST00000321892.4	+	13	4448	c.4387G>T	c.(4387-4389)Gtt>Ttt	p.V1463F	BPTF_ENST00000335221.5_Missense_Mutation_p.V1463F|BPTF_ENST00000306378.6_Missense_Mutation_p.V1337F|BPTF_ENST00000424123.3_Missense_Mutation_p.V1324F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1463					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGTGAGTTGGTTTCTGGTGA	0.433000													18	11					2.37509e-13	3.01126e-13	1	1	0
XDH	7498	broad.mit.edu	37	2	31591469	31591469	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591469G>C	ENST00000379416.3	-	19	2086	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	680					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCTCTGTGTGTGTTCC	0.488000													30	52					0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77090938	77090938	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77090938C>T	ENST00000356341.3	-	3	823		c.e3+1		PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000530617.1_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCAGGACTTACCGTAAACTCC	0.423000													21	53					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717534	110717534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110717534G>A	ENST00000331565.4	+	5	1190	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	235					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTGGCCTGGAGCATCGTGG	0.602000													21	30					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948758	83948758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948758C>T	ENST00000262430.4	+	5	1165	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	382					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCAGCAGCAGCGAGTGGGTGC	0.582000													54	75					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307385	38307385	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38307385G>T	ENST00000311856.4	+	1	83	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	12						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCTGAAATAGGTGACTTTGG	0.502000													8	49					1.06961e-07	1.26574e-07	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42320605G>A	ENST00000342228.3	-	4	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A145V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A145V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308000													10	18					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20413895	20413895	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20413895T>G	ENST00000380338.4	-	5	1235	c.949A>C	c.(949-951)Ata>Cta	p.I317L	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.I314L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAAGTGAGTATCAGTGGTGGT	0.378000			T	MLL	ALL								4	63					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27516827C>T	ENST00000301904.3	+	5	1160	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_ENST00000337221.4_Silent_p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	380					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557000													22	24					0	0	1	0	0
FAM13B	0	broad.mit.edu	37	5	137295347	137295347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137295347G>A	ENST00000033079.3	-	13	1850	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM13B_ENST00000420893.2_Missense_Mutation_p.H467Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.H349Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGATCTAAATGTGGAATACTG	0.398000													5	43					0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109748356	109748356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109748356C>A	ENST00000521072.2	-	4	1004	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	PPIL6_ENST00000424445.2_Missense_Mutation_p.D110Y|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000440797.2_Missense_Mutation_p.D142Y	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	142					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AACACGAAATCATGCTGTGAA	0.318000													9	33					0.361761	0.363227	1	1	0
WDR3	10885	broad.mit.edu	37	1	118488742	118488742	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118488742T>C	ENST00000349139.4	+	12	1409	c.1362T>C	c.(1360-1362)tgT>tgC	p.C454C		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	454						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAATGACCTGTGAATATGCAC	0.383000													38	59					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799881	119799881	+	Silent	SNP	C	C	T	rs146793744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119799881C>T	ENST00000355624.3	-	2	988	c.549G>A	c.(547-549)acG>acA	p.T183T	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T183T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	183					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCAGAAGACGTATCAGAAA	0.353000													47	65					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251411	171251411	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251411C>T	ENST00000354841.4	+	6	1253	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	FMO1_ENST00000402921.2_Silent_p.P311P|FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAAACCCTTGGGCTCCA	0.478000													26	45					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797968	57797968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797968C>T	ENST00000309042.7	+	4	3258	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	982					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGTAGAAGAACGTGAAGCAGT	0.448000													15	23					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35741347	35741347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35741347A>G	ENST00000602122.1	+	2	870	c.383A>G	c.(382-384)tAc>tGc	p.Y128C	LSR_ENST00000360798.3_Missense_Mutation_p.Y128C|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Missense_Mutation_p.Y128C|LSR_ENST00000347609.4_Missense_Mutation_p.Y91C|LSR_ENST00000361790.3_Missense_Mutation_p.Y128C|LSR_ENST00000427250.1_Missense_Mutation_p.Y80C			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	128	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCTGGAAGTACAAGTCTTTC	0.617000													65	90					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282703	53282703	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53282703A>C	ENST00000448904.2	-	6	867	c.757T>G	c.(757-759)Tca>Gca	p.S253A	LECT1_ENST00000377962.3_Missense_Mutation_p.S253A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	253					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AAGGCTTGTGAGTCCTCTTGA	0.468000													18	42					0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73931073	73931073	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73931073G>A	ENST00000295890.4	-	3	583	c.492C>T	c.(490-492)aaC>aaT	p.N164N	COX18_ENST00000507544.2_Silent_p.N164N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	164					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGGTGGCAGTTATCTCGCA	0.438000													28	57					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19330052	19330052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19330052C>A	ENST00000252575.5	+	3	445	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	134	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCCAGTGACTCTGGGCTGT	0.662000													5	9					0.184627	0.186383	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220422967	220422967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220422967G>A	ENST00000404537.1	-	10	3497	c.3441C>T	c.(3439-3441)gaC>gaT	p.D1147D	OBSL1_ENST00000265317.5_Silent_p.D138D|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Silent_p.D1147D|OBSL1_ENST00000373876.1_Silent_p.D1147D	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1147	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTCCCCGGCGTCCTCAGGCT	0.672000													7	7					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812378	52812378	+	Missense_Mutation	SNP	G	G	A	rs150656991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52812378G>A	ENST00000273283.2	+	3	185	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	ITIH1_ENST00000542827.1_Missense_Mutation_p.R54Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	54	VIT.			R -> A (in Ref. 7; AA sequence).	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGTTCATCCGGAGTTTGAAA	0.552000													23	44					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100085191	100085191	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100085191G>A	ENST00000375202.2	+	26	2720	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	CCDC180_ENST00000411667.2_Silent_p.V453V|CCDC180_ENST00000395220.1_Silent_p.V555V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.V456V|CCDC180_ENST00000357054.1_Silent_p.V595V|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		TGATGCATGTGCAGAATTGTA	0.567000													16	19					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120281	38120281	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38120281A>G	ENST00000406386.3	+	7	1973	c.1718A>G	c.(1717-1719)gAc>gGc	p.D573G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCACACGAGACAACCCCAGA	0.587000													12	74					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342575	47342575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47342575C>T	ENST00000398879.1	-	22	3796	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	TNS3_ENST00000355730.3_Missense_Mutation_p.A904T|TNS3_ENST00000311160.9_Missense_Mutation_p.A1144T			Q68CZ2	TENS3_HUMAN	tensin 3	1144						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTTCTGAAGCCTTGGAAAAG	0.587000													34	110					0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116050475	116050475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116050475T>C	ENST00000374199.4	+	10	1354	c.953T>C	c.(952-954)aTt>aCt	p.I318T	PRPF4_ENST00000374198.4_Missense_Mutation_p.I319T			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	319						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGCAGATATTGAAGGCCAT	0.433000													11	24					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153502	5153502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5153502C>T	ENST00000307388.1	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAGCGATCCAGGGC	0.468000													15	21					0	0	1	0	0
IGKV3-20	0	broad.mit.edu	37	2	89442605	89442605	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89442605T>C	ENST00000492167.1	-	0	38																											TCCCTCTGGGTCCTAACTGAG	0.587000													28	49					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758805	52758805	+	Silent	SNP	G	G	A	rs138930362		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52758805G>A	ENST00000257901.3	-	2	645	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	190	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCCTCCCGCTGTCGGCCT	0.622000													42	58					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106108807	106108807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106108807G>T	ENST00000357242.5	+	15	2545	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D785Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	791						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATCACAAGATGTGAAATT	0.289000													25	46					5.09552e-08	6.05645e-08	1	1	0
ATF4P4	0	broad.mit.edu	37	11	113660051	113660051	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113660051C>T	ENST00000393544.2	+	0	99																											GTGAGAAGGTCGGAGGGGCTG	0.602000													16	38					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24649283	24649283	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649283G>A	ENST00000311457.3	+	20	2222	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Silent_p.P541P			O95072	REC8_HUMAN	REC8 meiotic recombination protein	542					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGATCCAGCCGGGGCCCAGAT	0.557000													26	49					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888395	97888395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888395G>A	ENST00000356526.2	+	1	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATTCCTTTGTTAAATCCTA	0.363000													9	61					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84668410	84668410	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84668410C>A	ENST00000370689.2	+	8	951	c.687C>A	c.(685-687)atC>atA	p.I229I	PRKACB_ENST00000370682.3_Silent_p.I233I|PRKACB_ENST00000394839.2_Silent_p.I199I|PRKACB_ENST00000370680.1_Silent_p.I235I|PRKACB_ENST00000394838.2_Silent_p.I236I|PRKACB_ENST00000370685.3_Silent_p.I276I|PRKACB_ENST00000370688.3_Silent_p.I229I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	229	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GAGTGCTAATCTATGAAATGG	0.368000													6	188					0.00198382	0.00210581	1	1	0
PCDHB4	0	broad.mit.edu	37	5	140502941	140502941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140502941C>T	ENST00000194152.1	+	1	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617000													20	46					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31139478	31139478	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31139478G>T	ENST00000458591.2	+	11	1099	c.872G>T	c.(871-873)aGg>aTg	p.R291M	SCFD1_ENST00000541123.1_Missense_Mutation_p.R106M|SCFD1_ENST00000421551.3_Missense_Mutation_p.R232M|SCFD1_ENST00000396629.2_Missense_Mutation_p.R199M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R224M	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	291					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATTTAAACAGGGTTAATTTG	0.333000													13	210					7.03913e-09	8.47891e-09	1	1	0
ZNF506	440515	broad.mit.edu	37	19	19917798	19917798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19917798A>G	ENST00000443905.2	-	2	230	c.83T>C	c.(82-84)cTa>cCa	p.L28P	ZNF506_ENST00000545006.1_Missense_Mutation_p.L28P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Missense_Mutation_p.L28P|ZNF506_ENST00000450683.2_Missense_Mutation_p.L28P|ZNF506_ENST00000587461.1_Missense_Mutation_p.L28P|ZNF506_ENST00000540806.2_Missense_Mutation_p.L28P|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATCCCTATATAGATTCCGCTG	0.398000													15	111					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149457685	149457685	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149457685T>C	ENST00000286301.3	-	5	1010	c.719A>G	c.(718-720)aAc>aGc	p.N240S	CSF1R_ENST00000543093.1_Missense_Mutation_p.N240S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	240	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTTGGTGTTGTTGTGTTGGAG	0.572000													4	91					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906905	77906905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906905G>A	ENST00000355300.6	-	2	1518	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	LINGO1_ENST00000561030.1_Silent_p.A442A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	448	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCGCCATCGGCCCGGCACA	0.672000													3	5					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904889	205904889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205904889G>A	ENST00000367135.3	-	2	173	c.60C>T	c.(58-60)ttC>ttT	p.F20F	RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Silent_p.F20F|SLC26A9_ENST00000340781.4_Silent_p.F20F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	20						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCATCGTCGAAGAGGGTAA	0.557000													39	48					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70713743	70713743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70713743G>A	ENST00000338779.6	-	5	602	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	110	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCTCGATGCGCTCCTGCAGC	0.736000													5	18					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113378522C>A	ENST00000316407.4	-	7	2417	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q669H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	669					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398000													51	78					2.27781e-18	2.96919e-18	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5235133	5235133	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5235133G>A	ENST00000274181.7	+	13	1995	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	619	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGGCCATCGCATGGAGGGA	0.433000													12	28					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122294280	122294280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122294280C>T	ENST00000543163.1	-	7	602	c.157G>A	c.(157-159)Gga>Aga	p.G53R	HPD_ENST00000289004.4_Missense_Mutation_p.G92R|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	92					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTTCACTCCGTCACCGTGT	0.567000													6	53					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658726	55658726	+	Missense_Mutation	SNP	A	A	T	rs143743456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55658726A>T	ENST00000449290.2	+	7	1069	c.977A>T	c.(976-978)gAa>gTa	p.E326V	TRIM51_ENST00000244891.3_Missense_Mutation_p.E183V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	326	B30.2/SPRY.					intracellular	zinc ion binding										GGAAAATCTGAATGTTTTCTT	0.438000													11	136					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200457	86200457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86200457G>T	ENST00000370571.2	-	59	5339	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1637H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1658	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAGCACTTTAGGTTCAAGTAG	0.363000													16	215					1.67942e-08	2.01326e-08	1	1	0
SYS1	90196	broad.mit.edu	37	20	43995598	43995598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43995598G>A	ENST00000243918.5	+	4	605	c.314G>A	c.(313-315)gGc>gAc	p.G105D	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.G105D|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Missense_Mutation_p.G84D|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	105					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACCTCCTGGGCTGCTGGTTC	0.587000													36	48					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335492	42335492	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42335492G>T	ENST00000262418.6	-	11	1299	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	382					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACGCACCAGGCCCCCGAAG	0.582000													44	85					1.61004e-24	2.13591e-24	1	1	0
GRIK1	2897	broad.mit.edu	37	21	30909580	30909580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30909580G>A	ENST00000399914.1	-	17	3297	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	GRIK1_ENST00000399913.1_Nonsense_Mutation_p.R912*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.R897*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.R914*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.R941*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCTGAGTTCGTCTCTGATGA	0.398000													14	35					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14969012	14969012	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14969012G>A	ENST00000287667.7	+	19	2345	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	725						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAGAAAAACGGCAATGAGGAA	0.582000													6	156					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662000													20	17					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39621037	39621037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39621037C>T	ENST00000330149.5	-	5	584	c.358G>A	c.(358-360)Gca>Aca	p.A120T	TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.A92T|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	120					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CACGTAAATGCTAAATACTAA	0.294000													16	38					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005708	25005708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005708C>T	ENST00000382114.4	-	8	1188	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTCTCGTCGTCGATCTGAAAC	0.438000													37	64					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059905	7059905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7059905T>C	ENST00000299481.4	+	2	434	c.88T>C	c.(88-90)Ttc>Ctc	p.F30L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	30	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATTAAATACATTCAAGTTATT	0.428000													5	77					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151149423	151149423	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151149423G>T	ENST00000354473.4	-	6	861	c.825C>A	c.(823-825)acC>acA	p.T275T	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	264					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTGATGAAGGTACGTGAGC	0.557000													6	71					4.096e-09	4.95403e-09	1	1	0
ADA	100	broad.mit.edu	37	20	43251484	43251484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43251484T>G	ENST00000372874.4	-	8	900	c.766A>C	c.(766-768)Aac>Cac	p.N256H	PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.N232H	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	256					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AAGTGCATGTTTTCCTGCCGC	0.592000									Adenosine Deaminase Deficiency				46	95					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54817513	54817513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54817513G>A	ENST00000218436.6	-	4	402	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	125	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTGATTCCCGGTCCCTGGGC	0.582000													8	11					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44078951	44078951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44078951G>A	ENST00000272286.2	+	4	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	184	ABC transporter.		R -> H (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R184H(1)|p.R184L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGCCCAGCGTGACAAAAGG	0.622000													21	53					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009709	58009709	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58009709C>T	ENST00000286494.4	+	13	1789	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Silent_p.R482R	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	443	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGATCCAGCGCTATGTCCTGC	0.597000													43	46					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596380	6596380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6596380C>T	ENST00000285599.3	+	7	1014	c.978C>T	c.(976-978)ggC>ggT	p.G326G	MAN2B2_ENST00000504248.1_Silent_p.G275G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	326					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGCTGGGCGACTACTTCC	0.617000													7	19					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467760	99467760	+	Nonsense_Mutation	SNP	C	C	T	rs150221450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99467760C>T	ENST00000268035.6	+	13	3240	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.R877*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	877	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGATCAGCGAGAATGTGT	0.517000													58	101					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11135463	11135463	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11135463C>T	ENST00000321143.4	+	4	531	c.329C>T	c.(328-330)cCg>cTg	p.P110L	HCCS_ENST00000380763.3_Missense_Mutation_p.P110L|HCCS_ENST00000380762.4_Missense_Mutation_p.P110L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	110					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TCATCCATTCCGAGAGCAGAT	0.388000													65	84					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22958208	22958208	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22958208C>T	ENST00000313077.7	+	17	1976	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	CYFIP1_ENST00000435939.2_Silent_p.D186D|CYFIP1_ENST00000560848.1_Silent_p.D617D	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	617					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCTGTGACCTTTCGCAGC	0.532000													13	19					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41512229	41512229	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41512229C>T	ENST00000402904.2	-	12	1686	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SCMH1_ENST00000337495.5_Missense_Mutation_p.V450I|SCMH1_ENST00000397171.2_Missense_Mutation_p.V379I|SCMH1_ENST00000397174.2_Missense_Mutation_p.V420I|SCMH1_ENST00000372595.1_Missense_Mutation_p.V379I|SCMH1_ENST00000372596.1_Missense_Mutation_p.V379I|SCMH1_ENST00000361705.3_Missense_Mutation_p.V393I|SCMH1_ENST00000326197.7_Missense_Mutation_p.V440I|SCMH1_ENST00000372597.1_Missense_Mutation_p.V393I|SCMH1_ENST00000456518.2_Missense_Mutation_p.V282I|SCMH1_ENST00000361191.5_Missense_Mutation_p.V379I	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	440					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATGCTGTTGACTGCTGGGAGG	0.542000													5	74					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50950006	50950006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50950006C>A	ENST00000313478.7	-	3	375	c.94G>T	c.(94-96)Gga>Tga	p.G32*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.G32*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	32					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGACATCCTGGAAGGCAT	0.259000													4	40					0.000602214	0.000649039	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7621856	7621856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7621856G>A	ENST00000256861.6	-	9	1358	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	ITIH5_ENST00000298441.6_Missense_Mutation_p.A213V|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427V|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGGCCTCGGGCGGCCTCTCG	0.622000													17	27					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44919321	44919321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44919321C>T	ENST00000377967.4	+	13	1290	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000382899.4_Intron|KDM6A_ENST00000536777.1_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	417					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAATTACTTCCTAGTATTGA	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	17					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94259103	94259103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94259103C>A	ENST00000415788.2	-	3	355	c.268G>T	c.(268-270)Gca>Tca	p.A90S	SGCE_ENST00000445866.2_Missense_Mutation_p.A54S|SGCE_ENST00000428696.2_Missense_Mutation_p.A54S|SGCE_ENST00000265735.7_Missense_Mutation_p.A54S|SGCE_ENST00000447873.1_Missense_Mutation_p.A54S|SGCE_ENST00000437425.2_Intron			O43556	SGCE_HUMAN	sarcoglycan, epsilon	54					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGACACCTGCTGATGGGTAT	0.378000													110	93					3.24833e-45	4.38732e-45	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51524157	51524157	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51524157C>T	ENST00000371117.3	-	61	11042	c.10767G>A	c.(10765-10767)caG>caA	p.Q3589Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3589					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Q3589H(1)|p.Q3589_I3590>HV(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCAATCTGTAAGAAGT	0.433000													10	76					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917891	43917891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917891G>A	ENST00000336086.6	-	4	3278	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	URGCP_ENST00000447717.3_Missense_Mutation_p.R348C|URGCP_ENST00000443736.1_Missense_Mutation_p.R348C|URGCP_ENST00000402306.3_Missense_Mutation_p.R382C|URGCP_ENST00000223341.7_Missense_Mutation_p.R348C|URGCP_ENST00000453200.1_Missense_Mutation_p.R391C|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	391					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTCCCACGGTAGGGACTC	0.413000													40	150					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135138	31135138	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31135138G>T	ENST00000349752.5	-	14	2090	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	GALNT14_ENST00000356174.3_Missense_Mutation_p.P451H|GALNT14_ENST00000420311.2_Missense_Mutation_p.P449H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489H|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464H|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGCGCCAGGGAACAAGGT	0.552000													7	70					0.000157383	0.00017284	1	1	0
DDHD2	23259	broad.mit.edu	37	8	38092032	38092032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38092032C>T	ENST00000397166.2	+	3	866	c.341C>T	c.(340-342)aCg>aTg	p.T114M	DDHD2_ENST00000520272.2_Missense_Mutation_p.T114M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	114					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGACGATGTACGTGGTTTTAC	0.438000													66	92					0	0	1	0	0
ZNF366	0	broad.mit.edu	37	5	71739619	71739619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739619C>T	ENST00000318442.5	-	5	2689	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCATTTTCCTCTCCAGTA	0.398000													8	58					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383381	101383381	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383381C>A	ENST00000312938.4	-	5	2381		c.e5+1			NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAAATACTTACTGGACATTTG	0.333000													7	101					2.7689e-08	3.31013e-08	1	1	0
NETO1	81832	broad.mit.edu	37	18	70451004	70451004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70451004C>T	ENST00000327305.6	-	7	1434	c.777G>A	c.(775-777)atG>atA	p.M259I	NETO1_ENST00000583169.1_Missense_Mutation_p.M259I|NETO1_ENST00000299430.2_Missense_Mutation_p.M258I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	259	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCGTGCGTAGCATGACATCAT	0.478000													53	82					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25143737	25143737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25143737G>A	ENST00000399069.3	+	3	375	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	LCMT1_ENST00000380966.4_Missense_Mutation_p.V74I	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	74							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTGCTCGAGTCCATGGTGT	0.493000													7	71					0	0	1	0	0
DHRS7	51635	broad.mit.edu	37	14	60619860	60619860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60619860G>A	ENST00000216500.5	-	5	885	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	DHRS7_ENST00000557185.1_Missense_Mutation_p.R144C|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000536410.2_Missense_Mutation_p.R94C|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	144							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACAGAGAACGCTGGGACATT	0.428000													29	42					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44791260	44791260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44791260G>A	ENST00000398238.4	+	15	1776	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NSF_ENST00000225282.8_Missense_Mutation_p.A463T|NSF_ENST00000575068.1_Missense_Mutation_p.A552T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	557					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAAAATTGCAGAGGAATC	0.428000													9	26					0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1991332	1991332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1991332G>A	ENST00000361871.3	-	2	299	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	MSRB1_ENST00000399753.2_Missense_Mutation_p.P44S|MSRB1_ENST00000564908.1_Missense_Mutation_p.P44S|MSRB1_ENST00000489198.1_5'UTR	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	44					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	GTGAACGCCGGCCATGGAGAC	0.592000													7	28					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22261165	22261165	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22261165C>T	ENST00000324559.8	+	9	1130	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	271						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGAAAGATACACACTTCACC	0.403000													7	160					0	0	1	0	0
CLCNKA	0	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353844C>A	ENST00000375692.1	+	9	823	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S232Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647000													31	114					1.45844e-13	1.85123e-13	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825153	52825153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52825153G>T	ENST00000595962.1	+	5	716	c.650G>T	c.(649-651)aGc>aTc	p.S217I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S140I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.S174I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATCTTCCAGCCTTACTAAA	0.363000													24	54					2.21704e-12	2.7869e-12	1	1	0
CRB2	286204	broad.mit.edu	37	9	126125435	126125435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125435G>A	ENST00000373631.3	+	2	387	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CRB2_ENST00000359999.3_Missense_Mutation_p.R129H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	129	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCCGATCGCTACGAGTGC	0.642000													5	7					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995414	121995414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121995414C>T	ENST00000263707.5	-	9	970	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	291					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCGGGTGGGTCGGAGAGGCGT	0.637000													12	21					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390465	93390465	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93390465A>G	ENST00000238994.5	-	2	257	c.173T>C	c.(172-174)cTg>cCg	p.L58P		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	58							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACATGATTTCAGGGGCTTTAA	0.448000													12	173					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427914	75427914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75427914G>A	ENST00000502798.2	+	2	781	c.339G>A	c.(337-339)aaG>aaA	p.K113K	SV2C_ENST00000322285.7_Silent_p.K113K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	113					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCAGCCCAAGGGCGATGAGT	0.542000													7	25					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037770	50037770	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50037770G>A	ENST00000261897.1	+	24	3018	c.2467G>A	c.(2467-2469)Gga>Aga	p.G823R	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.G836R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G857R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	836					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCAGGCTTTGGAATCAAGAA	0.572000													4	70					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4452490	4452490	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4452490C>A	ENST00000301281.6	-	4	437		c.e4-1		UBXN6_ENST00000394765.3_Splice_Site	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6							microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTCAGATACCTGGGGCGGTG	0.647000													6	10					0.00198382	0.00210581	1	1	0
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574164T>C	ENST00000316428.5	-	5	840	c.783A>G	c.(781-783)ttA>ttG	p.L261L	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.L205L|LRRC31_ENST00000523069.1_Silent_p.L261L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.323000													10	80					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70454956	70454956	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70454956T>G	ENST00000433529.2	-	6	521		c.e6-2		TIA1_ENST00000445587.1_Splice_Site|TIA1_ENST00000282574.4_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Splice_Site|TIA1_ENST00000415783.2_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAAATGATCTTATAAGGGGA	0.318000													33	56					0	0	1	0	0
RP11-257K9.8	0	broad.mit.edu	37	6	73951801	73951801	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73951801T>C	ENST00000423730.3	-	3	707	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KHDC1_ENST00000257765.5_Missense_Mutation_p.Q91R|KHDC1_ENST00000370384.3_Missense_Mutation_p.Q164R																							ATAGGAGTCCTGGCTCCCCAC	0.517000													8	13					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981348	45981348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45981348G>T	ENST00000260324.7	+	9	1614	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.E410*	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	410							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCAAAGCAAAGAGCGCCTTTC	0.473000													37	60					1.836e-18	2.39396e-18	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537000													33	73					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129724975	129724975	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129724975T>C	ENST00000421865.2	+	40	5785	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1912	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATCCTTGATGAGGCTAAAA	0.398000													24	50					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109686747	109686747	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109686747A>G	ENST00000277225.5	+	3	843	c.554A>G	c.(553-555)cAc>cGc	p.H185R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H185R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	185					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGATGTATCACAAAAACAAT	0.488000													16	51					0	0	1	0	0
RPS19	6223	broad.mit.edu	37	19	42365246	42365246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42365246C>A	ENST00000598742.1	+	3	509	c.137C>A	c.(136-138)gCt>gAt	p.A46D	RPS19_ENST00000593863.1_Missense_Mutation_p.A46D|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	46					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAGAGCTTGCTCCCTACGAT	0.537000									Diamond-Blackfan Anemia				4	39					0.217242	0.218821	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21579607	21579607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21579607C>A	ENST00000379510.3	+	12	1358	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S392Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S441Y|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000485012.1_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	441	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGACCTATATCTATGCCAGTG	0.383000													9	330					9.70103e-10	1.18443e-09	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	rs11568463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26817589G>A	ENST00000444914.3	+	3	916	c.496G>A	c.(496-498)Gtt>Att	p.V166I	SLC13A2_ENST00000314669.5_Missense_Mutation_p.V117I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V74I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V46I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	117						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607000													21	33					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897549	104897549	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104897549G>T	ENST00000507740.1	+	2	382	c.146G>T	c.(145-147)aGa>aTa	p.R49I	RIMS2_ENST00000406091.3_Missense_Mutation_p.R241I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R19I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R49I|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	272	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTGTCCAGAGATCAGAAT	0.388000										HNSCC(12;0.0054)			11	23					2.68362e-12	3.37045e-12	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55595089	55595089	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55595089A>G	ENST00000378397.1	+	1	395	c.395A>G	c.(394-396)tAc>tGc	p.Y132C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCTGCTGTACATGGTGACC	0.527000										HNSCC(27;0.073)			56	146					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17810546	17810546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17810546G>A	ENST00000325083.8	+	9	1578	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	PCM1_ENST00000519253.1_Missense_Mutation_p.S380N|PCM1_ENST00000524226.1_Missense_Mutation_p.S380N|PCM1_ENST00000518537.1_Missense_Mutation_p.S419N	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	380					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTCCCAGAGCAGGAAACCA	0.368000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	12					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86255105	86255105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86255105C>T	ENST00000263857.6	-	33	5343	c.4965G>A	c.(4963-4965)aaG>aaA	p.K1655K	POLR1A_ENST00000409681.1_Silent_p.K1594K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1655					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GATTCAGTGGCTTGTAAACAC	0.507000													25	39					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854856	21854856	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21854856C>T	ENST00000382254.1	-	7	1656	c.570G>A	c.(568-570)ccG>ccA	p.P190P	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Silent_p.P190P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCCATAGGTCGGGTCATCTG	0.403000										HNSCC(59;0.17)			28	37					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303631	6303631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6303631C>A	ENST00000226760.1	+	8	2279	c.2109C>A	c.(2107-2109)cgC>cgA	p.R703R	WFS1_ENST00000503569.1_Silent_p.R703R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	703					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACCGGCCGCTTCAAGTACG	0.652000													10	18					1.58986e-06	1.84011e-06	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106983	14106983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14106983G>A	ENST00000235372.7	+	8	3549	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D	PRDM2_ENST00000343137.4_Missense_Mutation_p.G697D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G898D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G697D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	898						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATATAATGGCATCGATTTA	0.478000													32	62					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212381	8212381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212381C>T	ENST00000307637.4	-	2	604	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCCTACATTGCGATGATTCTG	0.478000													26	34					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187995	42187995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42187995C>T	ENST00000006724.3	-	3	629		c.e3-1		CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_Splice_Site	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7							anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGTGGCTCCGCTGTGCAGATA	0.512000													31	62					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275811	64275811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64275811G>A	ENST00000261891.3	-	2	240	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DAPK2_ENST00000457488.1_Missense_Mutation_p.R79W|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.R79W			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGCACCTGCCGCAGGATGCTC	0.637000													21	25					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016254	106016254	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106016254A>T	ENST00000255499.2	+	2	846	c.596A>T	c.(595-597)cAt>cTt	p.H199L	RNF128_ENST00000324342.3_Missense_Mutation_p.H173L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGAAAAAACATGGCCCTTGG	0.373000													47	103					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39646666	39646666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39646666C>T	ENST00000216832.4	+	4	372	c.305C>T	c.(304-306)cCg>cTg	p.P102L	PNN_ENST00000556530.1_Missense_Mutation_p.P102L|PNN_ENST00000553331.1_Missense_Mutation_p.P102L	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	102	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAAGCGACCCGGAGGATGAT	0.413000													11	20					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461449	73461449	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73461449T>C	ENST00000377110.2	-	4	764	c.521A>G	c.(520-522)gAa>gGa	p.E174G	TRPM3_ENST00000377097.3_Missense_Mutation_p.E21G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E21G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E21G|TRPM3_ENST00000377101.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396280.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377105.1_Missense_Mutation_p.E21G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E176G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E21G|TRPM3_ENST00000361823.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396283.1_Missense_Mutation_p.E21G|TRPM3_ENST00000357533.2_Missense_Mutation_p.E176G|TRPM3_ENST00000377111.2_Missense_Mutation_p.E174G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E21G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E21G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	174						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAACTGCCATTCCTTGGTCAT	0.478000													9	79					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644518	82644518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644518C>A	ENST00000533655.1	+	6	2350	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P412H|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.P713H|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	713					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAAGTCACCCTTCAGAGTCT	0.368000													10	118					0.000673444	0.000724755	1	1	0
CDC14B	8555	broad.mit.edu	37	9	99285544	99285544	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285544G>A	ENST00000375241.1	-	11	1695	c.1245_splice	c.e11+1	p.P415_splice	CDC14B_ENST00000463569.1_Splice_Site_p.P415_splice|CDC14B_ENST00000265659.2_Splice_Site_p.P415_splice|CDC14B_ENST00000375242.3_Splice_Site_p.P378_splice|CDC14B_ENST00000375240.3_Splice_Site_p.P415_splice|CDC14B_ENST00000375236.1_Splice_Site_p.P415_splice	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	415					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTGATTACCGGTTCGGGTTC	0.443000													10	71					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136552211	136552211	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136552211C>A	ENST00000264162.2	-	14	5121	c.5111_splice	c.e14+1	p.R1704_splice		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGACTTACCTGTCTGCATC	0.532000													5	47					0.014758	0.0152625	1	1	0
STIL	6491	broad.mit.edu	37	1	47767270	47767270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47767270A>G	ENST00000360380.3	-	6	779	c.416T>C	c.(415-417)aTa>aCa	p.I139T	STIL_ENST00000371877.3_Missense_Mutation_p.I139T|STIL_ENST00000243182.6_Missense_Mutation_p.I139T|STIL_ENST00000337817.5_Missense_Mutation_p.I139T|STIL_ENST00000396221.2_Missense_Mutation_p.I139T			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	139					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTGTGAACTATCATTTCTCT	0.368000													9	80					0	0	1	0	0
IGHV3OR15-7	0	broad.mit.edu	37	15	20193214	20193214	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20193214C>A	ENST00000558565.2	-	0	53																											GCACCTCACACTGGACACCTG	0.537000													25	40					7.26314e-15	9.28782e-15	1	1	0
ZNF558	148156	broad.mit.edu	37	19	8933396	8933396	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8933396G>T	ENST00000601372.1	-	0	651				ZNF558_ENST00000599938.1_5'UTR|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_De_novo_Start_OutOfFrame			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTATCCCGCAGCGCTCTGGAA	0.627000													11	12					5.50884e-06	6.28354e-06	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50589640	50589640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50589640G>A	ENST00000547825.1	-	2	1366	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	LIMA1_ENST00000341247.4_Missense_Mutation_p.R335C|LIMA1_ENST00000552783.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552909.1_Missense_Mutation_p.R175C|LIMA1_ENST00000394943.3_Missense_Mutation_p.R335C|LIMA1_ENST00000552823.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552491.1_Missense_Mutation_p.R33C|LIMA1_ENST00000552008.1_5'UTR	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	335					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGTGGAACGGACTGCCAGG	0.383000													5	44					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41488137	41488137	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41488137A>C	ENST00000314992.5	-	6	649	c.459T>G	c.(457-459)atT>atG	p.I153M	EXD1_ENST00000458580.2_Missense_Mutation_p.I211M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	153					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACCTTCAAAATTCTCTTGT	0.388000													18	39					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980071	35980071	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35980071C>A	ENST00000490799.1	-	3	620	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SLC26A8_ENST00000355574.2_Missense_Mutation_p.K89N|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K89N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	89					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAGCCAATCCTTTAATCGAT	0.458000													21	175					8.10497e-08	9.61437e-08	1	1	0
HEXB	3074	broad.mit.edu	37	5	73985152	73985152	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73985152G>T	ENST00000511181.1	+	2	536		c.e2-1		HEXB_ENST00000261416.7_Splice_Site			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCTCAAACAGATATCATGGC	0.353000													5	85					0.014758	0.0152625	1	1	0
UBR5	51366	broad.mit.edu	37	8	103266626	103266626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103266626G>A	ENST00000520539.1	-	59	8910	c.8304C>T	c.(8302-8304)tgC>tgT	p.C2768C	UBR5_ENST00000518205.1_Silent_p.C496C|UBR5_ENST00000220959.4_Silent_p.C2767C|UBR5_ENST00000521922.1_Silent_p.C2761C	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2768	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGAGAAATGCAAGTATTTG	0.423000													21	33					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739295	26739295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26739295C>A	ENST00000272371.2	-	5	626	c.500G>T	c.(499-501)aGc>aTc	p.S167I	OTOF_ENST00000403946.3_Missense_Mutation_p.S167I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	167					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGGAAGCTCTTCTCTCC	0.637000													44	60					8.00217e-19	1.04538e-18	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72164161	72164161	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72164161G>A	ENST00000537465.1	-	12	1906	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A578V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A433V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	583										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATCCTGCTCAGCCACTGTCTT	0.463000													18	52					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096671	97096671	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97096671C>T	ENST00000371247.2	-	30	3435	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000361941.3_Silent_p.T1082T|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Silent_p.T1036T|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1082					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAAGATGGCGTGTGGACAC	0.552000													12	28					0	0	1	0	0
VAMP4	8674	broad.mit.edu	37	1	171707535	171707535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171707535C>T	ENST00000236192.7	-	2	406	c.20G>A	c.(19-21)cGc>cAc	p.R7H	VAMP4_ENST00000367740.2_Missense_Mutation_p.R7H|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Missense_Mutation_p.R7H	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	7					vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTGAGGTGGCGCTTAAACTT	0.333000													30	40					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24825761	24825761	+	Missense_Mutation	SNP	G	G	T	rs145406190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24825761G>T	ENST00000376451.2	+	12	2782	c.2522G>T	c.(2521-2523)cGg>cTg	p.R841L	KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1158L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R841L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1123L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R841L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1122L|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1158					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGCCATCCCGGGCTGACAGT	0.488000													12	81					1.5842e-08	1.90059e-08	1	1	0
CTRB2	440387	broad.mit.edu	37	16	75238090	75238090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75238090G>T	ENST00000303037.8	-	7	804	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	254	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCACCCAGGGTATGAGCTT	0.612000													27	61					9.39395e-14	1.19386e-13	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8340357	8340357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8340357G>A	ENST00000381196.4	-	39	5782	c.5239C>T	c.(5239-5241)Cgt>Tgt	p.R1747C	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1747C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1341C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1337C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1747C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1734C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1337C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1725C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1340C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1747	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCATTTCACGCAGCTTGGTG	0.488000										TSP Lung(15;0.13)			24	35					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521183	39521183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521183C>T	ENST00000251646.3	-	6	994	c.945G>A	c.(943-945)caG>caA	p.Q315Q		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	315	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGATCAGGCTCTGCACCTGGG	0.617000													19	39					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479523	4479523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4479523C>T	ENST00000237837.1	-	3	887	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	248					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ATGAACTTGGCGAAGGGGCGG	0.632000													4	99					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208277	75208277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208277C>T	ENST00000413679.2	+	15	2160	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	SEC14L1_ENST00000430767.4_Silent_p.S619S|SEC14L1_ENST00000436233.4_Silent_p.S619S|SEC14L1_ENST00000392476.2_Silent_p.S619S|SEC14L1_ENST00000443798.4_Silent_p.S619S|SEC14L1_ENST00000431431.2_Silent_p.S585S|SEC14L1_ENST00000585618.1_Silent_p.S619S|SEC14L1_ENST00000591437.1_Silent_p.S585S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	619	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAGAAAGCGTGCAGGTAA	0.542000													55	110					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349882	89349882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89349882G>A	ENST00000301030.4	-	9	3528	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T1023I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1023	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGTTTTGTCTTCTCCTT	0.463000													61	70					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16944541	16944541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16944541G>A	ENST00000318063.5	+	7	888	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AGCGTGCAATGCTGGTAAGAA	0.294000													11	17					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586058	56586058	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586058G>T	ENST00000336078.4	+	4	1315	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF532_ENST00000591230.1_Missense_Mutation_p.G180V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591083.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G180V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGCACTCGGAGGGGAAAAC	0.507000													20	99					1.15919e-05	1.31461e-05	1	1	0
PIGT	51604	broad.mit.edu	37	20	44047956	44047956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44047956G>A	ENST00000279036.6	+	4	595	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Missense_Mutation_p.R70H|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.R172H|PIGT_ENST00000543458.2_Missense_Mutation_p.R116H	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	172					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACTTTCTGCGCTATGCTGTG	0.602000													10	24					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648575	153648575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648575G>A	ENST00000299328.5	+	9	960	c.671G>A	c.(670-672)aGt>aAt	p.S224N	TAZ_ENST00000350743.4_Missense_Mutation_p.S194N|TAZ_ENST00000369776.4_Missense_Mutation_p.S194N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.S210N|TAZ_ENST00000369790.4_Missense_Mutation_p.S180N	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	224					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCTAACAGTCCGCCCTAC	0.627000													28	218					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75445001	75445001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75445001C>T	ENST00000549446.1	-	3	1464	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KCNC2_ENST00000550433.1_Missense_Mutation_p.E262K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E262K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E262K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E262K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E262K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E262K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	262					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGACTGGTTCTGTCTTGTTT	0.368000													20	46					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9319618	9319618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9319618C>T	ENST00000378501.2	+	4	318	c.303C>T	c.(301-303)tgC>tgT	p.C101C	PLCB4_ENST00000414679.2_Silent_p.C101C|PLCB4_ENST00000334005.3_Silent_p.C101C|PLCB4_ENST00000278655.4_Silent_p.C101C|PLCB4_ENST00000378493.1_Silent_p.C101C|PLCB4_ENST00000378473.3_Silent_p.C101C|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	101					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGTGTCTGCAGTGGCACAG	0.433000													5	84					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123038541C>A	ENST00000462833.1	-	10	3448	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E396*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E379*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582000													5	29					5.9392e-07	6.91975e-07	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076180	57076180	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57076180C>A	ENST00000532437.1	-	5	4316	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	TNKS1BP1_ENST00000358252.3_Silent_p.R1335R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1335	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCACATCCCCGTAGCCCCT	0.617000													7	187					0.0381472	0.0390147	1	1	0
SRMS	6725	broad.mit.edu	37	20	62172560	62172560	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62172560G>T	ENST00000217188.1	-	7	1309	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	423	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGGACACTGGCCATAGGTGA	0.627000													22	27					6.33239e-15	8.10486e-15	1	1	0
CLCN4	0	broad.mit.edu	37	X	10176405	10176405	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10176405C>A	ENST00000380833.4	+	9	1555	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CLCN4_ENST00000380829.1_Silent_p.P357P|CLCN4_ENST00000421085.2_Silent_p.P294P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	388						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCCCAATCCCTACACACGCC	0.567000													30	286					7.26314e-15	9.28782e-15	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36762305	36762305	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36762305C>T	ENST00000354618.5	+	9	2461	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S746F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	746					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCGAGACTCCAGTCACTCA	0.428000			T	USP6	aneurysmal bone cysts								21	48					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155532416	155532416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155532416G>T	ENST00000461783.3	+	17	4416	c.3143G>T	c.(3142-3144)aGg>aTg	p.R1048M	TIAM2_ENST00000456144.1_Missense_Mutation_p.R1048M|TIAM2_ENST00000367174.2_Missense_Mutation_p.R424M|TIAM2_ENST00000456877.2_Missense_Mutation_p.R360M|TIAM2_ENST00000528391.2_Missense_Mutation_p.R384M|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1072M|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1048M|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1048M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1048					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTCCCACAGGGAGAAAATG	0.473000													4	21					1	1	1	1	0
C9orf131	138724	broad.mit.edu	37	9	35044203	35044203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35044203A>C	ENST00000312292.5	+	2	1624	c.1577A>C	c.(1576-1578)gAa>gCa	p.E526A	C9orf131_ENST00000421362.2_Missense_Mutation_p.E478A|C9orf131_ENST00000354479.5_Missense_Mutation_p.E453A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	526										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCCTTATGGAACCACACAGA	0.507000													60	116					0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140075366	140075366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140075366C>T	ENST00000230771.3	+	6	792	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HARS2_ENST00000432671.2_Missense_Mutation_p.A76V|HARS2_ENST00000437649.2_Missense_Mutation_p.A116V|HARS2_ENST00000508522.1_Missense_Mutation_p.A165V|HARS2_ENST00000448069.2_Missense_Mutation_p.A51V|HARS2_ENST00000435019.2_Missense_Mutation_p.A150V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	190					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCGATGCAGAGTGTTTG	0.448000													41	98					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610010	38610010	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38610010T>C	ENST00000222345.6	+	9	2865	c.2356T>C	c.(2356-2358)Ttc>Ctc	p.F786L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAACCACATTCCGCAAATC	0.552000													28	45					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652402	34652402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34652402C>A	ENST00000314891.6	-	12	1329	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	384					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACCAAACCCTTGGTATCCT	0.552000													6	54					3.59834e-05	4.01776e-05	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49169107	49169107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49169107C>T	ENST00000418109.1	-	6	673	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R170H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	170	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCCAGGTGCGGCCAAAGTC	0.592000													29	48					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31244760C>T	ENST00000407793.2	+	10	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000228264.6_Silent_p.I373I|DDX11_ENST00000350437.4_Silent_p.I399I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667000										Multiple Myeloma(12;0.14)			14	49					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115837950	115837950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115837950G>A	ENST00000343348.6	-	3	961	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA6A_ENST00000257414.8_Silent_p.I58I|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.I58I|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	58	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAATCATCTGGATGTCCAGCC	0.507000													62	74					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7252368	7252368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7252368C>T	ENST00000158762.3	+	18	1939	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	578	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTTTCGAGCGTCTGGGCAT	0.602000													32	43					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145111623C>T	ENST00000426825.1	-	13	1823	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682000													9	12					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32973503	32973503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32973503G>A	ENST00000379817.2	-	7	1218	c.1022C>T	c.(1021-1023)aCa>aTa	p.T341I	APTX_ENST00000379825.2_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.T283I|APTX_ENST00000463596.1_Missense_Mutation_p.T341I|APTX_ENST00000476858.1_Missense_Mutation_p.T301I|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379813.3_Missense_Mutation_p.T341I|APTX_ENST00000468275.1_Missense_Mutation_p.T341I|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.T355I			Q7Z2E3	APTX_HUMAN	aprataxin	355					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GAATCACTGTGTCCAGTGCTT	0.542000								Editing and processing nucleases					7	35					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651950	121651950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121651950G>A	ENST00000393386.2	+	12	3261	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	950					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATACCTGTGCATGATTCTG	0.443000													33	99					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092916	72092916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72092916C>A	ENST00000549735.1	+	5	1059	c.874C>A	c.(874-876)Ctt>Att	p.L292I	TMEM19_ENST00000266673.5_Intron			Q96HH6	TMM19_HUMAN	transmembrane protein 19	0						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATTCTTGCAACTTATTGGTAT	0.363000													23	35					3.62473e-10	4.44982e-10	1	1	0
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144097329C>A	ENST00000467773.1	-	5	920	c.921G>T	c.(919-921)caG>caT	p.Q307H	NOBOX_ENST00000483238.1_Missense_Mutation_p.Q307H|NOBOX_ENST00000223140.5_Missense_Mutation_p.Q222H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552000													9	63					1.58986e-06	1.84011e-06	1	1	0
PDXK	8566	broad.mit.edu	37	21	45175625	45175625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45175625G>T	ENST00000291565.4	+	10	989	c.806G>T	c.(805-807)aGg>aTg	p.R269M	PDXK_ENST00000467908.1_Missense_Mutation_p.R229M|PDXK_ENST00000468090.1_Missense_Mutation_p.R241M	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	269					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTCTGCAGAGGACCATCCAG	0.637000													33	44					1.06647e-15	1.37037e-15	1	1	0
ALX1	8092	broad.mit.edu	37	12	85680716	85680716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85680716C>A	ENST00000316824.3	+	3	772	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	206					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTTGCTGCCACCTATGATATA	0.368000													5	84					1.23904e-05	1.39987e-05	1	1	0
ULBP3	79465	broad.mit.edu	37	6	150390163	150390163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150390163C>T	ENST00000367339.1	-	1	68	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ULBP3_ENST00000438272.2_Missense_Mutation_p.A14T			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	14					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GGAAGAATCGCGAGGCGCGGA	0.677000													9	3					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627142	46627142	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46627142C>T	ENST00000341415.2	-	3	375		c.e3+1		AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3							extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGGACCTTTACCTGGTACAGC	0.498000													18	296					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62472962	62472962	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62472962G>T	ENST00000433053.1	-	3	771	c.215C>A	c.(214-216)cCt>cAt	p.P72H	BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.P8H|BSCL2_ENST00000278893.7_Missense_Mutation_p.P8H|BSCL2_ENST00000421906.1_Missense_Mutation_p.P8H|BSCL2_ENST00000407022.3_Missense_Mutation_p.P8H|BSCL2_ENST00000405837.1_Missense_Mutation_p.P72H|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P72H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	8					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTAAGGCAGGTACTGGAGG	0.647000													14	17					1.05317e-09	1.28483e-09	1	1	0
ZNF700	90592	broad.mit.edu	37	19	12059609	12059609	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12059609A>C	ENST00000482090.1	+	3	1134	c.716A>C	c.(715-717)aAa>aCa	p.K239T	ZNF700_ENST00000254321.5_Missense_Mutation_p.K257T|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAATGTGGTAAATCCTTTACT	0.353000													5	45					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68436816	68436816	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68436816C>T	ENST00000265404.2	+	2	217	c.135C>T	c.(133-135)taC>taT	p.Y45Y	STAP1_ENST00000396225.1_Silent_p.Y45Y	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	45	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATGAGCATTACTGGACAGAGT	0.294000													7	215					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363608	84363608	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84363608G>A	ENST00000395409.3	-	0	366				SATL1_ENST00000509231.1_Missense_Mutation_p.R123C|SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTCATGCGTGATTGGCTG	0.542000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142496479	142496479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142496479G>A	ENST00000273482.6	+	4	927	c.536G>A	c.(535-537)cGt>cAt	p.R179H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R213H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	213					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACAGGTTTCGTCTTGATATA	0.279000													12	29					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204913447	204913447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204913447G>A	ENST00000367172.4	+	3	332	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	NFASC_ENST00000403080.1_Missense_Mutation_p.A2T|NFASC_ENST00000401399.1_Missense_Mutation_p.A2T|NFASC_ENST00000339876.6_Missense_Mutation_p.A2T|NFASC_ENST00000367169.4_Missense_Mutation_p.A2T|NFASC_ENST00000513543.1_Missense_Mutation_p.A2T|NFASC_ENST00000360049.4_Missense_Mutation_p.A2T|NFASC_ENST00000404907.1_Missense_Mutation_p.A2T|NFASC_ENST00000404076.1_Missense_Mutation_p.A2T|NFASC_ENST00000338515.6_Missense_Mutation_p.A2T|NFASC_ENST00000539706.1_Missense_Mutation_p.A2T|NFASC_ENST00000367171.4_Missense_Mutation_p.A2T|NFASC_ENST00000338586.6_Missense_Mutation_p.A2T|NFASC_ENST00000367170.4_Missense_Mutation_p.A2T			O94856	NFASC_HUMAN	neurofascin	2					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGGATGGCCAGGCAGCC	0.647000													7	12					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245842	45245842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45245842C>A	ENST00000263765.4	+	8	1168	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	PRDM11_ENST00000530656.1_Missense_Mutation_p.L307I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.L273I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	307										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCATTCATCTCTCTGTGCT	0.498000													84	136					5.52753e-52	7.47658e-52	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44802966	44802966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802966G>A	ENST00000309315.4	+	13	1937	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R547H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R605H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R573H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R579H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	605					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCACCTTCCGCAGGATCCAG	0.582000													9	156					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131490380	131490380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131490380G>T	ENST00000431975.2	+	5	654	c.556G>T	c.(556-558)Gga>Tga	p.G186*	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G164*|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.G185*	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGCAGAAGGAGATCATGT	0.383000													18	129					0.000175454	0.000192663	1	1	0
POLE	5426	broad.mit.edu	37	12	133241015	133241015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133241015G>A	ENST00000320574.5	-	22	2545	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	POLE_ENST00000535270.1_Silent_p.I807I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	834					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGAAGCAGACGATGCCAGCCA	0.627000								DNA polymerases (catalytic subunits)					14	17					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420106	49420106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49420106G>A	ENST00000374201.3	-	13	1804	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A476V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A469V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	501	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATCAGACTCGCTGGGATGTA	0.547000													10	15					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812116	2812116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812116G>T	ENST00000301740.8	+	11	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	529	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCCCCAGCGACGTGGCC	0.607000													29	38					8.16721e-17	1.05573e-16	1	1	0
TRMT2A	27037	broad.mit.edu	37	22	20100486	20100486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20100486G>A	ENST00000252136.7	-	11	1982	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TRMT2A_ENST00000404751.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R550W	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	532					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TACAGCAGCCGCCTGAGGTTC	0.607000													26	36					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985354	36985354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36985354G>A	ENST00000282516.8	+	10	2571	c.2072G>A	c.(2071-2073)gGc>gAc	p.G691D	NIPBL_ENST00000448238.2_Missense_Mutation_p.G691D|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	691					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATAATGGCAGATCAGAA	0.408000													20	39					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581278	99581278	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581278A>G	ENST00000481138.1	-	6	1688	c.1027T>C	c.(1027-1029)Tgt>Cgt	p.C343R	ZNF782_ENST00000535338.1_Missense_Mutation_p.C211R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTCTCTGTACATGGGTGATAA	0.408000													14	218					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270050	48270050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48270050G>T	ENST00000225964.5	-	28	1998	c.1880C>A	c.(1879-1881)cCc>cAc	p.P627H		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	627	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCGCCAGCGGGACCCTGCAC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						35	78					3.33393e-15	4.27331e-15	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79973207	79973207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79973207C>T	ENST00000373275.4	-	19	2312	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	699										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTATGTCTTCGAAGCCTGAT	0.423000													33	59					0	0	1	0	0
IGHG1	0	broad.mit.edu	37	14	106208418	106208418	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106208418T>C	ENST00000390548.2	-	0	481																											GCCGTCCACGTACCAGTTGAA	0.597000													66	104					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47485822C>T	ENST00000247153.3	-	8	1278	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000396992.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622000													12	19					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44746989	44746989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44746989C>T	ENST00000372285.3	+	1	79	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	CD40_ENST00000372276.3_Missense_Mutation_p.R3C|CD40_ENST00000489304.1_Intron	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	3					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGCTATGGTTCGTCTGCCTCT	0.652000									Immune Deficiency with Hyper-IgM				13	15					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221326	161221326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:161221326G>A	ENST00000327928.4	+	4	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	344	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCGGTCGGCTTTCAGCGC	0.522000													5	32					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156927	146156927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156927G>A	ENST00000276816.4	-	4	1432	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R416W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGACCCGACTGAAGGGC	0.517000													17	36					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463181	10463181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463181C>A	ENST00000525621.1	-	23	3728	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1083Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D898Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1083	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACCAGACATCTGACGCATAG	0.647000													43	57					2.64894e-19	3.46538e-19	1	1	0
ULBP3	79465	broad.mit.edu	37	6	150387219	150387219	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387219C>A	ENST00000367339.1	-	2	196	c.168G>T	c.(166-168)caG>caT	p.Q56H	ULBP3_ENST00000438272.2_Missense_Mutation_p.Q56H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	56	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCTGATCCACCTGGCTCTGGA	0.463000													4	79					0.217242	0.218821	1	1	0
CDH18	1016	broad.mit.edu	37	5	19571703	19571703	+	Missense_Mutation	SNP	G	G	T	rs17856908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:19571703G>T	ENST00000507958.1	-	10	2228	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N|CDH18_ENST00000506372.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000502796.1_Missense_Mutation_p.T413N			Q13634	CAD18_HUMAN	cadherin 18, type 2	413	Cadherin 4.			T -> I (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378000													33	43					5.43694e-19	7.10666e-19	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113326468	113326468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326468A>G	ENST00000263331.5	+	12	2643	c.2063A>G	c.(2062-2064)cAa>cGa	p.Q688R	POLR1B_ENST00000537335.1_Missense_Mutation_p.Q477R|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q505R|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q726R|POLR1B_ENST00000417433.2_Missense_Mutation_p.Q632R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	688					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACATGTACCAATGCCAGATG	0.438000													3	27					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824065	176824065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176824065G>A	ENST00000324417.5	+	12	1497	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGTCCAGCGCTTTCCAG	0.627000													9	15					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161017	132161017	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161017A>G	ENST00000511190.1	-	6	1701	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	USP26_ENST00000406273.1_Missense_Mutation_p.F411S|USP26_ENST00000370832.1_Missense_Mutation_p.F411S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	411					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCCCCAAATTCACTTTT	0.373000													43	90					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114304486	114304486	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114304486G>A	ENST00000408937.3	+	17	2447	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	FOXP2_ENST00000393494.2_Silent_p.P666P|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393489.3_Silent_p.P574P|FOXP2_ENST00000393498.2_Silent_p.P645P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Silent_p.P666P	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428000													14	43					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130424	153130424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153130424C>T	ENST00000370060.1	-	23	3087	c.2898G>A	c.(2896-2898)ctG>ctA	p.L966L	L1CAM_ENST00000361981.3_Silent_p.L961L|L1CAM_ENST00000370057.3_Silent_p.L966L|L1CAM_ENST00000370055.1_Silent_p.L961L|L1CAM_ENST00000361699.4_Silent_p.L966L|L1CAM_ENST00000543994.1_Silent_p.L968L|L1CAM_ENST00000538883.1_Silent_p.L968L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	966	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAAGGACAGTTGCCCCT	0.652000													51	81					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426671	426671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:426671G>A	ENST00000431232.2	-	5	937	c.777C>T	c.(775-777)acC>acT	p.T259T	TMEM8A_ENST00000250930.3_Silent_p.T66T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	259					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGGGGCACCGGTGCAGGTGA	0.706000													7	3					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701000													3	21					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452367	100452367	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452367A>G	ENST00000279907.7	-	14	2900	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	UHRF1BP1L_ENST00000545232.2_Silent_p.D546D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	896										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAGGCAAATAATCAGGTACCA	0.363000													24	36					0	0	1	0	0
TCF21	0	broad.mit.edu	37	6	134210781	134210781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701000													14	26					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72139482	72139482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72139482G>A	ENST00000268482.3	+	18	2955	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	DHX38_ENST00000536867.1_Missense_Mutation_p.G128S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	816	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CACTGTTGACGGCATCATGTT	0.483000													3	78					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260222	30260222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260222G>A	ENST00000359358.4	-	7	1936	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	500						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTGTTTTCGAGCCCAGACA	0.383000													46	55					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667626	100667626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667626G>T	ENST00000316594.5	+	2	728	c.650G>T	c.(649-651)aGa>aTa	p.R217I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	217					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCTGGCAGAGGGTATAAT	0.537000													11	60					2.80697e-09	3.39963e-09	1	1	0
RRP12	23223	broad.mit.edu	37	10	99132933	99132933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99132933C>T	ENST00000370992.4	-	18	2162	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RRP12_ENST00000414986.1_Missense_Mutation_p.R623H|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R584H|RRP12_ENST00000536831.1_Missense_Mutation_p.R402H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	684						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGGCAAAGCGACTCACTTC	0.592000													17	33					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247037	19247037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19247037G>T	ENST00000527884.1	-	12	2384	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	E2F8_ENST00000250024.4_Missense_Mutation_p.L718I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	718					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGAAGCGAGAGCCGGGCTG	0.527000													30	46					1.80694e-10	2.22694e-10	1	1	0
FCGR3B	2215	broad.mit.edu	37	1	161599807	161599807	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161599807A>G	ENST00000294800.3	-	3	353	c.80T>C	c.(79-81)gTg>gCg	p.V27A	FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27A|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63A|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	27					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.562000													18	25					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71726774	71726774	+	Missense_Mutation	SNP	C	C	T	rs147334088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726774C>T	ENST00000393695.3	-	15	2106	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R592Q|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	592					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGGCCTCTCGCTCCTCTGC	0.597000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	73					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418708	19418708	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:19418708G>T	ENST00000538714.1	+	8	639	c.635G>T	c.(634-636)gGa>gTa	p.G212V	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G212V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.G212V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G104V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G104V	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	212	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTATCCTGGGAAGCATACTG	0.313000													4	77					0.00024832	0.0002712	1	1	0
RHBG	57127	broad.mit.edu	37	1	156347153	156347153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156347153G>T	ENST00000400992.2	+	3	410	c.42G>T	c.(40-42)caG>caT	p.Q14H	RHBG_ENST00000451864.2_Missense_Mutation_p.Q14H|RHBG_ENST00000368249.1_Missense_Mutation_p.Q83H|RHBG_ENST00000368246.2_Missense_Mutation_p.Q83H|RHBG_ENST00000255013.3_Missense_Mutation_p.Q14H|RHBG_ENST00000537040.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	83					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTCCTGCAGCGTTACGGCT	0.642000													58	122					1.80625e-27	2.41067e-27	1	1	0
MEPCE	56257	broad.mit.edu	37	7	100028273	100028273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100028273C>T	ENST00000310512.2	+	1	1020	c.632C>T	c.(631-633)gCg>gTg	p.A211V	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	211							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCTCAACGCGGAGACCCCT	0.552000													42	100					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148789435	148789435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148789435C>A	ENST00000310053.5	-	6	830	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	HLTF_ENST00000494055.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E213*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	213				KTE -> PEF (in Ref. 6; AAB27691).	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.E213K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259000													8	6					2.17888e-05	2.45068e-05	1	1	0
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87367807C>T	ENST00000311635.7	-	8	1094	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	361					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682000													40	40					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565259	156565259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156565259G>T	ENST00000368232.4	-	8	991	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	GPATCH4_ENST00000438976.2_Missense_Mutation_p.L292I	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	287						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTTCCTGAGGGACTGATTG	0.507000													7	269					5.4927e-09	6.6252e-09	1	1	0
DHX40	79665	broad.mit.edu	37	17	57682891	57682891	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57682891C>T	ENST00000451169.2	+	20	2271	c.1912C>T	c.(1912-1914)Cca>Tca	p.P638S	DHX40_ENST00000425628.3_Missense_Mutation_p.P609S|DHX40_ENST00000251241.4_Missense_Mutation_p.P686S			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	686							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTATGCCCAATCCGTTA	0.403000													21	29					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211725	8211725	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8211725T>C	ENST00000307637.4	-	2	1260	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	353					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAACAGGCTATCATGATAACA	0.517000													3	44					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107073497	107073497	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073497C>T	ENST00000409886.3	-	4	422	c.335G>A	c.(334-336)gGa>gAa	p.G112E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G112E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGCTCTTCCATCAGTAAC	0.348000													81	160					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063276	48063276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48063276C>T	ENST00000316364.5	+	19	2955	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.T764M|SEMA6D_ENST00000354744.4_Missense_Mutation_p.T783M|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T796M|SEMA6D_ENST00000358066.4_Missense_Mutation_p.T777M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T820M|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T839M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	839					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GACTACAACACGTCTTTCTCA	0.458000													7	69					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323155	31323155	+	Silent	SNP	C	C	T	rs1065502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31323155C>T	ENST00000412585.2	-	4	862	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGTATCTCTGCTCTTCTCCAG	0.567000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	45					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476300	52476300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52476300C>T	ENST00000231721.2	-	4	359	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	120	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTAGCACCCGCACGAAGTTGG	0.667000													4	51					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530910	190530910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190530910G>A	ENST00000260952.4	+	4	465	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607535.1_3'UTR	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	18	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTCAGTCAAGATTTAAAAGA	0.338000													31	58					0	0	1	0	0
RP11-514O12.4	0	broad.mit.edu	37	6	167271707	167271707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167271707G>A	ENST00000507747.1	-	8	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T35I|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T35I																							AGTGTCTTCTGTGGTGGGCTC	0.458000													11	85					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGGTCAATTCGTCCGCCTCC	0.627000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	55					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229811	8229811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8229811G>A	ENST00000539824.1	+	12	2536	c.2162G>A	c.(2161-2163)aGc>aAc	p.S721N	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S797N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	797							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTGTACAGCCACCATGGC	0.672000													7	16					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169383115	169383115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169383115T>C	ENST00000511577.1	-	5	588	c.341A>G	c.(340-342)aAt>aGt	p.N114S	DDX60L_ENST00000260184.7_Missense_Mutation_p.N114S|DDX60L_ENST00000505890.1_Missense_Mutation_p.N114S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	114							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGTTAGTATTGTGTTGAAG	0.373000													6	17					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405075	130405075	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130405075T>C	ENST00000356763.3	-	15	4012	c.3455A>G	c.(3454-3456)cAc>cGc	p.H1152R	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1152					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCAGCATTGGTGGATGTCCAC	0.458000													20	28					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101552558	101552558	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101552558C>T	ENST00000353234.4	-	2	737	c.690G>A	c.(688-690)atG>atA	p.M230I	ANKS6_ENST00000540940.1_Missense_Mutation_p.M35I|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.M230I|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	230										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGCGGCCAGCATCAGCGGGC	0.697000													16	25					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654742	3654742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3654742C>T	ENST00000356518.2	-	8	948	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ADAM33_ENST00000379861.4_Missense_Mutation_p.R236H|ADAM33_ENST00000350009.2_Missense_Mutation_p.R236H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	236	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCAGGAGACGCTGTTTGGT	0.652000													8	71					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209871	21209871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21209871C>A	ENST00000592179.1	-	6	628	c.474G>T	c.(472-474)ttG>ttT	p.L158F	ANKRD29_ENST00000284207.7_Missense_Mutation_p.L158F|ANKRD29_ENST00000322980.9_Missense_Mutation_p.L158F	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	158										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAATAACATCCAAGTAACCAC	0.453000													8	19					0.000274275	0.000298791	1	1	0
WDR36	134430	broad.mit.edu	37	5	110428061	110428061	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110428061C>T	ENST00000506538.2	+	1	648	c.75C>T	c.(73-75)ctC>ctT	p.L25L	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Silent_p.L25L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	25			L -> P (possible disease-susceptibility mutation).		response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587000													34	58					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416862	43416862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43416862C>A	ENST00000244533.3	+	18	4398	c.4039C>A	c.(4039-4041)Ctg>Atg	p.L1347M	ABCC10_ENST00000372530.4_Missense_Mutation_p.L1375M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1375	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATGGTGAGCTGGGTGAGGG	0.587000													8	68					1.58986e-06	1.84011e-06	1	1	0
ANKRD13B	124930	broad.mit.edu	37	17	27939446	27939446	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27939446G>A	ENST00000394859.3	+	12	1439	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	429										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CATCCTCAACGCCCGCATCAC	0.637000													4	8					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183536117	183536117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183536117G>A	ENST00000413720.1	-	8	1001	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	NCF2_ENST00000367535.3_Missense_Mutation_p.L288F|NCF2_ENST00000367536.1_Missense_Mutation_p.L288F|NCF2_ENST00000418089.1_Missense_Mutation_p.L207F	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	288	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGGGAACAAGCCCCTTCTGC	0.537000													4	44					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150917383G>A	ENST00000261800.5	-	11	9176	c.9164C>T	c.(9163-9165)gCg>gTg	p.A3055V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463000													27	35					0	0	1	0	0
KNOP1	400506	broad.mit.edu	37	16	19725641	19725641	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725641A>G	ENST00000219837.7	-	2	795	c.717T>C	c.(715-717)ccT>ccC	p.P239P	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		TTCCTTTCCTAGGGCTGCTCT	0.498000													5	65					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464531	36464531	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36464531T>C	ENST00000229812.7	-	13	1509	c.1224A>G	c.(1222-1224)tcA>tcG	p.S408S		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	408	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCGAAGTTTGAGGTATCAT	0.378000													3	46					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113063007	113063007	+	Missense_Mutation	SNP	G	G	A	rs144189370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113063007G>A	ENST00000369684.4	+	5	1537	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	WNT2B_ENST00000256640.5_Missense_Mutation_p.R259H|WNT2B_ENST00000369686.4_Missense_Mutation_p.R332H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	351					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTCACCCGTGTTACCCAG	0.527000													7	29					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52334250	52334250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52334250G>A	ENST00000371068.5	+	7	1360	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	EFHC1_ENST00000538167.1_Silent_p.V400V|EFHC1_ENST00000433625.2_Silent_p.V328V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	419	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACAAGGTGCTTCGTTATT	0.343000													10	111					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676655	100676655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100676655C>A	ENST00000306151.4	+	3	2022	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	653	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACTCC	0.478000													29	377					3.73148e-12	4.68205e-12	1	1	0
ARF1	375	broad.mit.edu	37	1	228284846	228284846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228284846G>A	ENST00000541182.1	+	2	293	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	ARF1_ENST00000540651.1_Missense_Mutation_p.G11S|ARF1_ENST00000272102.5_Missense_Mutation_p.G11S|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	11					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCTTCAAGGGCCTTTTTGG	0.542000													33	65					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9870917	9870917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9870917G>A	ENST00000383827.1	+	4	3037	c.756G>A	c.(754-756)caG>caA	p.Q252Q	TTLL3_ENST00000426895.4_Silent_p.Q607Q|TTLL3_ENST00000430793.1_Silent_p.Q252Q|TTLL3_ENST00000427853.3_Silent_p.Q252Q|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q525Q|TTLL3_ENST00000547186.1_Silent_p.Q464Q|TTLL3_ENST00000455274.1_Silent_p.Q252Q|TTLL3_ENST00000397241.1_Silent_p.Q252Q|TTLL3_ENST00000466245.1_3'UTR			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	464	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGGACTTCCAGCCCTGGCTGA	0.627000													31	27					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350056	71350056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350056C>A	ENST00000545866.1	-	1	1702	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RGAG4_ENST00000479991.1_Missense_Mutation_p.E445D|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	445										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAGGTCTCCTCAGTCCCTG	0.532000													43	67					1.61863e-15	2.07799e-15	1	1	0
RNASE7	84659	broad.mit.edu	37	14	21511156	21511156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21511156C>T	ENST00000298690.4	+	2	262	c.5C>T	c.(4-6)gCa>gTa	p.A2V	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	2					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAGAGATGGCACCGGCCAGA	0.577000													9	11					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81532987	81532987	+	Silent	SNP	G	G	A	rs11114776	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81532987G>A	ENST00000548058.1	+	4	1633	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ACSS3_ENST00000261206.3_Silent_p.A240A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAAGAAGCGCTAAAAATAG	0.358000													23	41					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022831	131022831	+	Silent	SNP	G	G	A	rs144463156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131022831G>A	ENST00000421699.2	-	17	1602	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	530						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TAGTGCGGTCGTTCTGCATGG	0.667000													68	99					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51748014	51748014	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51748014A>G	ENST00000371117.3	-	46	7502	c.7227T>C	c.(7225-7227)agT>agC	p.S2409S	PKHD1_ENST00000340994.4_Silent_p.S2409S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2409					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGATTGCTACTTCTAAAAA	0.343000													6	59					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197325986	197325986	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197325986C>T	ENST00000367400.3	+	5	1149	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CRB1_ENST00000367399.2_Silent_p.I226I|CRB1_ENST00000543483.1_Silent_p.I37I|CRB1_ENST00000538660.1_Silent_p.I338I|CRB1_ENST00000535699.1_Silent_p.I269I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	338					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGTGAGATCGACCTCAATG	0.458000													5	35					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495605	6495605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6495605G>A	ENST00000264071.2	-	4	1276	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A302V			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	302					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CGGGTCGCACGCCGCCATCAT	0.687000													26	47					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152070714	152070714	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152070714C>A	ENST00000409598.4	-	10	2083		c.e10-1		SH3D19_ENST00000427414.2_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000424281.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTGGATTCCTGCAAGTAGC	0.408000													4	59					1.024e-07	1.214e-07	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624883	29624883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29624883A>G	ENST00000318184.5	-	16	1707	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	570					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGAAAGCCACTGGGGACTA	0.498000													6	14					0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66522867	66522867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66522867C>T	ENST00000266604.2	-	2	90	c.20G>A	c.(19-21)aGt>aAt	p.S7N	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.S7N|TMBIM4_ENST00000556010.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	7	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCCACTTACTCCGTAAGCT	0.348000													36	36					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35896177	35896177	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35896177G>T	ENST00000339208.6	-	19	3710	c.3570C>A	c.(3568-3570)gcC>gcA	p.A1190A	SYNRG_ENST00000345615.4_Silent_p.A1112A|SYNRG_ENST00000585472.1_Silent_p.A1111A|SYNRG_ENST00000502449.2_Silent_p.A1067A|SYNRG_ENST00000394378.2_Silent_p.A1112A|SYNRG_ENST00000591288.1_Silent_p.A984A|SYNRG_ENST00000346661.4_Silent_p.A1190A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1190					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACTGCAGTGGCTTTTATCC	0.498000													4	30					0.150653	0.152692	1	1	0
GBP7	388646	broad.mit.edu	37	1	89616141	89616141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89616141T>C	ENST00000294671.2	-	6	881	c.743A>G	c.(742-744)cAt>cGt	p.H248R		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	248						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTTCAACATGGAGTAAGAG	0.398000													29	79					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110566865	110566865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110566865G>A	ENST00000242591.5	+	4	865	c.359G>A	c.(358-360)cGt>cAt	p.R120H	IFT81_ENST00000361948.4_Missense_Mutation_p.R120H|IFT81_ENST00000552912.1_Missense_Mutation_p.R120H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	120					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATTTAGCTCGTTTTTTAATA	0.383000													29	35					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453068	195453068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195453068G>T	ENST00000320736.6	+	3	1207	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	MUC20_ENST00000436408.1_Nonsense_Mutation_p.E532*|MUC20_ENST00000447234.2_Nonsense_Mutation_p.E532*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.E497*	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	532	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCCTTGAAGAAACCTCAGC	0.562000													6	12					0.00116845	0.00124821	1	1	0
ZNF266	0	broad.mit.edu	37	19	9525241	9525241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525241C>A	ENST00000592904.1	-	5	2436	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ZNF266_ENST00000588933.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361151.1_Missense_Mutation_p.K120N|ZNF266_ENST00000592292.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588221.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361451.2_Missense_Mutation_p.K120N|ZNF266_ENST00000590306.1_Missense_Mutation_p.K120N			Q14584	ZN266_HUMAN	zinc finger protein 266	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TAGAGGTTTTCTTGTGCAGAG	0.438000													15	115					2.32078e-09	2.82054e-09	1	1	0
CRYZL1	9946	broad.mit.edu	37	21	34985901	34985901	+	Missense_Mutation	SNP	G	G	T	rs147398519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34985901G>T	ENST00000361534.2	-	7	485	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000381554.3_Missense_Mutation_p.L92M|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.L77M			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	92					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TCAGAGTCCAGGGGCAAAATT	0.358000											OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	74					0.0215528	0.0221649	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9111361	9111361	+	Missense_Mutation	SNP	G	G	A	rs72549211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9111361G>A	ENST00000457346.2	-	2	223	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SCUBE2_ENST00000520467.1_Missense_Mutation_p.A50V|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A50V|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A50V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	50	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGCCCTTGGGCACACTCATC	0.592000													44	62					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118700088	118700088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118700088G>A	ENST00000355371.4	-	9	1244	c.747C>T	c.(745-747)agC>agT	p.S249S	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.S189S|KIAA1598_ENST00000392903.2_Silent_p.S249S|KIAA1598_ENST00000260777.10_Silent_p.S249S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	249					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGAAGGTGGCTTTGTCTCT	0.398000													30	47					0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65473450	65473450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65473450G>A	ENST00000334121.6	+	11	1848	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.G447G	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	447					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATAGAGATGGGAAGGAGAAGT	0.383000													46	76					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653282	18653282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18653282G>A	ENST00000308799.4	+	3	1137	c.918G>A	c.(916-918)tgG>tgA	p.W306*	FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCCTCTTGGCCCAGTTCTG	0.532000													18	37					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150711138	150711138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150711138C>T	ENST00000297494.3	+	27	3850	c.3493C>T	c.(3493-3495)Cgc>Tgc	p.R1165C	NOS3_ENST00000461406.1_Missense_Mutation_p.R959C|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000494791.1_Intron|ATG9B_ENST00000444312.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1165					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTCACGCTGCGCACCCAGGA	0.617000													17	19					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015670	41015670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015670C>T	ENST00000295974.8	-	6	1394	c.765G>A	c.(763-765)ccG>ccA	p.P255P	APBB2_ENST00000513140.1_Silent_p.P255P|APBB2_ENST00000508593.1_Silent_p.P255P|APBB2_ENST00000506352.1_Silent_p.P255P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	255					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTCATCGCTCGGTGCCAGGT	0.582000													19	280					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154020423	154020423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154020423C>T	ENST00000413259.3	-	3	542	c.150G>A	c.(148-150)gaG>gaA	p.E50E	MPP1_ENST00000369534.3_Silent_p.E80E|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Silent_p.E80E	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	80					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACCATGGGCTCTTCTGTGA	0.557000													4	112					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86600952	86600952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86600952G>A	ENST00000320354.4	+	1	96	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	4					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGCAGGCGCGCTACTCCGTG	0.721000									Late-onset Hereditary Lymphedema				14	17					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12904600	12904600	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904600C>T	ENST00000361905.4	+	9	1247	c.582C>T	c.(580-582)cgC>cgT	p.R194R	TEAD1_ENST00000526600.1_Silent_p.R113R|TEAD1_ENST00000527575.1_Silent_p.R209R|TEAD1_ENST00000334310.6_Silent_p.R198R|TEAD1_ENST00000527636.1_Silent_p.R209R|TEAD1_ENST00000361985.2_Silent_p.R209R	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	209	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAAGGTCGCTCCATTGGCA	0.577000													28	59					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57075990	57075990	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57075990G>T	ENST00000261556.6	+	6	925	c.803G>T	c.(802-804)gGa>gTa	p.G268V	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.G268V	NM_017799.3	NP_060269.3			transmembrane protein 260																		GAAGAATATGGAACCTTCAGC	0.438000													5	64					0.0215528	0.0221649	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179982307	179982307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179982307C>A	ENST00000428443.3	-	14	1792	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	492					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGAAGCATCTTTAACCTTC	0.343000													41	72					1.86633e-21	2.45679e-21	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5373625	5373625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5373625G>T	ENST00000380219.1	+	1	888	c.888G>T	c.(886-888)caG>caT	p.Q296H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418000													6	113					0.00198382	0.00210581	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101425524	101425524	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101425524C>T	ENST00000329841.5	+	2	684	c.152C>T	c.(151-153)aCa>aTa	p.T51I	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.T51I|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AAGTTTGCTACATGTAACCCT	0.338000													24	41					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715175	76715175	+	Missense_Mutation	SNP	G	G	T	rs140525637	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76715175G>T	ENST00000369950.3	-	10	1153	c.964C>A	c.(964-966)Ctc>Atc	p.L322I	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	322	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGACAGGAGGTCACTTGCA	0.453000													28	46					2.44723e-14	3.12147e-14	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122125203	122125203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122125203C>A	ENST00000263710.4	-	35	4236	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*	CLASP1_ENST00000397587.3_Nonsense_Mutation_p.E1223*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.E1222*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.E990*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.E1000*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.E1239*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.E1216*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1283	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AACACAGCCTCTTTCAGGGCG	0.607000													28	40					1.50538e-07	1.77473e-07	1	1	0
ZMYM6	9204	broad.mit.edu	37	1	35457973	35457973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457973C>A	ENST00000357182.4	-	15	2235	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D670Y|ZMYM6_ENST00000487874.1_Missense_Mutation_p.D670Y	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	670					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCATAGCATCTTCCTGTGTA	0.373000													31	45					4.15321e-07	4.86422e-07	1	1	0
CRYGB	1419	broad.mit.edu	37	2	209007577	209007577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209007577C>A	ENST00000260988.4	-	3	360	c.313G>T	c.(313-315)Gag>Tag	p.E105*		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	105	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TCTGTGAGCTCTGACATTTGT	0.488000													5	177					0.014758	0.0152625	1	1	0
NEB	4703	broad.mit.edu	37	2	152581430	152581430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152581430C>T	ENST00000427231.2	-	7	650	c.448G>A	c.(448-450)Gta>Ata	p.V150I	NEB_ENST00000409198.1_Missense_Mutation_p.V150I|NEB_ENST00000397345.3_Missense_Mutation_p.V150I|NEB_ENST00000603639.1_Missense_Mutation_p.V150I|NEB_ENST00000604864.1_Missense_Mutation_p.V150I|NEB_ENST00000172853.10_Missense_Mutation_p.V150I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	150					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCATCTACGTGACATATA	0.408000													14	26					0	0	1	0	0
DBC1	0	broad.mit.edu	37	9	121976432	121976432	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121976432A>G	ENST00000265922.3	-	6	1148	c.685_splice	c.e6-1	p.G229_splice	DBC1_ENST00000373964.2_Splice_Site_p.G229_splice	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		229	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTATCTGAAGACCTGTGTGAG	0.418000													13	32					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12821552	12821552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12821552T>C	ENST00000425528.1	-	13	1510	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	TNPO2_ENST00000356861.5_Missense_Mutation_p.N385D|TNPO2_ENST00000588216.1_Missense_Mutation_p.N385D|TNPO2_ENST00000441499.1_Missense_Mutation_p.N385D|TNPO2_ENST00000592287.1_Missense_Mutation_p.N385D|TNPO2_ENST00000450764.2_Missense_Mutation_p.N385D			O14787	TNPO2_HUMAN	transportin 2	385					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAGACATTGGCGAGGACG	0.652000													8	4					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716065	68716065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68716065G>A	ENST00000325631.5	+	2	927	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	285	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCTTCTGGACTCTAATTG	0.433000													43	52					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751556	62751556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62751556C>A	ENST00000383710.4	-	2	894	c.545G>T	c.(544-546)aGt>aTt	p.S182I	CADPS_ENST00000490353.2_Missense_Mutation_p.S182I|CADPS_ENST00000283269.9_Missense_Mutation_p.S182I|CADPS_ENST00000357948.3_Missense_Mutation_p.S182I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	182					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCATAGTAACTCTGCACAGC	0.522000													4	66					0.00024832	0.0002712	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586803	56586803	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586803C>T	ENST00000336078.4	+	4	2060	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	ZNF532_ENST00000591230.1_Silent_p.V428V|ZNF532_ENST00000589288.1_Silent_p.V428V|ZNF532_ENST00000591083.1_Silent_p.V428V|ZNF532_ENST00000591808.1_Silent_p.V428V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCTGCGGTCGTGACCAATG	0.602000													5	9					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539523	187539523	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187539523T>C	ENST00000441802.2	-	10	8426	c.8217A>G	c.(8215-8217)aaA>aaG	p.K2739K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2739	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGTATTCCCTTTGACCAGGC	0.448000										HNSCC(5;0.00058)			49	78					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5240339	5240339	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5240339C>T	ENST00000372412.4	-	12	1811	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	PTPRS_ENST00000348075.2_Silent_p.P512P|PTPRS_ENST00000357368.4_Silent_p.P525P|PTPRS_ENST00000353284.2_Silent_p.P512P|PTPRS_ENST00000592099.1_Silent_p.P512P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.P512P|PTPRS_ENST00000587303.1_Silent_p.P525P|PTPRS_ENST00000262963.6_Silent_p.P521P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	525	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGGCTGGCCCGGCACTGTGG	0.657000													4	13					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196089299	196089299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196089299G>A	ENST00000296328.4	-	9	1168	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	UBXN7_ENST00000535858.1_Missense_Mutation_p.P217L|UBXN7_ENST00000428095.1_Missense_Mutation_p.P203L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	365							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGTCAGCGGCCTTCTATT	0.483000													36	59					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012278	129012278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129012278C>T	ENST00000326639.6	+	6	692	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000427266.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.R161*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.R114*|LARP1B_ENST00000432347.2_Nonsense_Mutation_p.R161*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.R161*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	161	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAAGAGGACGAGGCAGAGG	0.408000													50	63					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230822730	230822730	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230822730C>A	ENST00000534989.1	+	13	1588	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	COG2_ENST00000535166.1_Missense_Mutation_p.P361H|COG2_ENST00000546013.1_Missense_Mutation_p.P166H|COG2_ENST00000366668.3_Missense_Mutation_p.P477H|COG2_ENST00000366669.4_Missense_Mutation_p.P477H			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	477					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCAAGAAACCTTTGGTAACT	0.433000													23	25					4.47668e-21	5.88546e-21	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51584762	51584762	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51584762G>T	ENST00000452682.1	+	9	1161	c.909G>T	c.(907-909)aaG>aaT	p.K303N	NCOA4_ENST00000443446.1_Missense_Mutation_p.K287N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K121N|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.K303N|NCOA4_ENST00000344348.6_Missense_Mutation_p.K287N|NCOA4_ENST00000374082.1_Missense_Mutation_p.K287N|NCOA4_ENST00000430396.2_Missense_Mutation_p.K187N|NCOA4_ENST00000374087.4_Missense_Mutation_p.K287N	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	287					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAATGGAAAAGGTTGGAGATC	0.433000			T	RET	papillary thyroid								8	125					3.09899e-07	3.63227e-07	1	1	0
LCT	3938	broad.mit.edu	37	2	136555613	136555613	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136555613G>T	ENST00000264162.2	-	13	4972	c.4962C>A	c.(4960-4962)ggC>ggA	p.G1654G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1654	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACTTGTTGAGGCCTGCAGCCA	0.562000											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	32					5.26018e-13	6.65277e-13	1	1	0
SLC13A4	26266	broad.mit.edu	37	7	135391027	135391027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135391027G>T	ENST00000354042.4	-	4	1076	c.387C>A	c.(385-387)tgC>tgA	p.C129*		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	129						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGTGGTACAGCACATGAAGC	0.632000													6	67					0.00116845	0.00124821	1	1	0
CAMK2A	815	broad.mit.edu	37	5	149602646	149602646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149602646C>T	ENST00000348628.6	-	17	2004	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	CAMK2A_ENST00000398376.3_Missense_Mutation_p.A458T|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	447					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGACTGGGCGGTGCGTGGG	0.642000													24	33					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698948	21698948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21698948G>A	ENST00000388958.3	+	7	615	c.614G>A	c.(613-615)cGc>cAc	p.R205H	OTOA_ENST00000286149.4_Missense_Mutation_p.R205H|OTOA_ENST00000388956.4_Missense_Mutation_p.R126H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.542000													6	12					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475655	228475655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228475655G>T	ENST00000570156.2	+	41	11166	c.11092G>T	c.(11092-11094)Gtg>Ttg	p.V3698L	OBSCN_ENST00000366707.4_Missense_Mutation_p.V388L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V388L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3269L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2116L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3269L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2731	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCTCACAGTGACTGGTAA	0.602000													10	24					1.08611e-07	1.2824e-07	1	1	0
RP11-248G5.8	0	broad.mit.edu	37	13	52742420	52742420	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52742420C>T	ENST00000451298.1	-	0	3219				RP11-64P12.8_ENST00000606031.1_RNA																							TCCTGCCTGGCGATCCCCAAG	0.473000													9	21					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121182770C>A	ENST00000392870.2	+	5	761	c.432C>A	c.(430-432)gcC>gcA	p.A144A	GRK5_ENST00000369108.3_Silent_p.A39A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582000													50	58					9.87224e-16	1.26924e-15	1	1	0
MPZL3	196264	broad.mit.edu	37	11	118111057	118111057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118111057C>A	ENST00000278949.4	-	2	164	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	MPZL3_ENST00000527472.1_Splice_Site|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	37	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACATGGGCATCTGCACGAATC	0.388000													36	49					2.38352e-08	2.85255e-08	1	1	0
LILRB3	11025	broad.mit.edu	37	19	54723078	54723078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54723078G>A	ENST00000391750.1	-	9	1482	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	LILRB3_ENST00000245620.9_Missense_Mutation_p.S449L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.S449L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S449L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S461L|LILRA6_ENST00000440558.2_Missense_Mutation_p.S449L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S466L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S449L|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	449					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGGCCACCGAGACCCCAAT	0.562000													5	9					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14840925	14840925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14840925C>T	ENST00000261170.3	-	2	426	c.290G>A	c.(289-291)aGt>aAt	p.S97N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	97					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACAGGTGCTACTCCGGCAGTC	0.483000													28	31					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784436	130784436	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784436C>A	ENST00000265909.4	-	1	1968	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	SNX19_ENST00000533214.1_Missense_Mutation_p.A467S|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	467					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCAAAGCTGTAACAGAG	0.537000													26	53					1.55811e-20	2.04583e-20	1	1	0
NEFL	4747	broad.mit.edu	37	8	24811116	24811116	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24811116C>T	ENST00000221169.5	-	0	1957							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATGGTTTCCTCCACTTCGATC	0.582000													18	23					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85422207	85422207	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85422207C>T	ENST00000359152.5	-	5	4316	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	SYTL2_ENST00000389958.3_Silent_p.P24P|SYTL2_ENST00000316356.4_Silent_p.P594P|SYTL2_ENST00000527523.1_Silent_p.P561P|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000529581.1_Silent_p.P35P|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000528231.1_Silent_p.P593P|SYTL2_ENST00000354566.3_Silent_p.P931P|SYTL2_ENST00000525423.1_Silent_p.P915P|SYTL2_ENST00000525702.1_Silent_p.P35P	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	593					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTAAAGAGCTCGGGCTCTTCT	0.423000													64	95					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225365132	225365132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225365132G>A	ENST00000264414.4	-	11	1896	c.1558C>T	c.(1558-1560)Cca>Tca	p.P520S	CUL3_ENST00000409096.1_Missense_Mutation_p.P496S|CUL3_ENST00000344951.4_Missense_Mutation_p.P454S|CUL3_ENST00000409777.1_Missense_Mutation_p.P496S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	520					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGCACTTTGGTGTGGCTGAC	0.428000													44	78					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340160	16340160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16340160G>A	ENST00000352083.6	-	3	354	c.277C>T	c.(277-279)Cga>Tga	p.R93*	SOX6_ENST00000396356.3_Nonsense_Mutation_p.R93*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.R96*|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000528252.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.R93*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAGGTATTTCGGAAGGAATAT	0.408000													13	129					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935225	28935225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542000													7	24					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102474096	102474096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102474096T>A	ENST00000321521.9	+	5	983	c.410T>A	c.(409-411)gTa>gAa	p.V137E	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.V137E|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V137E|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	137					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAGAGAAGTATATAGTATT	0.308000													5	53					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267028	16267028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267028G>A	ENST00000343518.6	-	9	1472	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCAGCAGTGGCACCGTTAGT	0.408000													40	411					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279402	1279402	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1279402G>A	ENST00000447027.1	+	42	16591	c.16533G>A	c.(16531-16533)gaG>gaA	p.E5511E	MUC5B_ENST00000529681.1_Silent_p.E5508E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5508					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCAGGAGGAGGGCGACT	0.697000													3	5					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896428	75896428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896428G>T	ENST00000355264.4	-	3	718	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	AP3M1_ENST00000372745.1_Missense_Mutation_p.P136Q	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	136					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AATTGTTGGTGGTTTAATCAA	0.328000													5	53					0.00116845	0.00124821	1	1	0
ABCB7	22	broad.mit.edu	37	X	74282213	74282213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74282213C>A	ENST00000253577.3	-	14	1912	c.1888G>T	c.(1888-1890)Gtc>Ttc	p.V630F	ABCB7_ENST00000373394.3_Missense_Mutation_p.V629F|ABCB7_ENST00000339447.4_Missense_Mutation_p.V589F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	629	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAGAGTATGACTGGGGGGTCC	0.348000													5	63					0.014758	0.0152625	1	1	0
WEE2	494551	broad.mit.edu	37	7	141420793	141420793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141420793G>A	ENST00000397541.2	+	5	1223	c.817G>A	c.(817-819)Gta>Ata	p.V273I	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	273	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCCCATGTGGTACGTTACTA	0.408000													89	77					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272808	1272808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1272808G>A	ENST00000447027.1	+	31	14765	c.14707G>A	c.(14707-14709)Gtg>Atg	p.V4903M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V4900M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4900	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGTCCACCGTGGGGACCAC	0.652000													9	18					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784980	82784980	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82784980G>T	ENST00000423517.2	-	2	1314	c.977C>A	c.(976-978)cCt>cAt	p.P326H	PCLO_ENST00000333891.8_Missense_Mutation_p.P326H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	310	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGCCCAGGCTGTGATTT	0.552000													10	38					4.68919e-08	5.58064e-08	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98375414	98375414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375414G>A	ENST00000186436.5	-	40	5537	c.5309C>T	c.(5308-5310)gCg>gTg	p.A1770V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1770	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGATCTGTCGCTGGCGACTC	0.592000													15	12					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100193223	100193223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100193223C>T	ENST00000355295.4	+	3	511	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TDRD7_ENST00000422139.2_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	72	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATTACCTGCTATGCCATGG	0.448000													9	95					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31858128	31858128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31858128C>A	ENST00000543095.2	-	7	1040	c.856G>T	c.(856-858)Gga>Tga	p.G286*	HEATR5A_ENST00000439727.1_De_novo_Start_OutOfFrame|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.G280*	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	280							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAAGGAATCCTGAACTCCCA	0.448000													6	54					0.0215528	0.0221649	1	1	0
PUM1	9698	broad.mit.edu	37	1	31454233	31454233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31454233G>A	ENST00000373747.3	-	8	1277	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	PUM1_ENST00000426105.2_Missense_Mutation_p.A393V|PUM1_ENST00000424085.2_Missense_Mutation_p.A151V|PUM1_ENST00000373741.4_Missense_Mutation_p.A429V|PUM1_ENST00000373742.2_Missense_Mutation_p.A333V|PUM1_ENST00000423018.2_Missense_Mutation_p.A297V|PUM1_ENST00000440538.2_Missense_Mutation_p.A393V|PUM1_ENST00000257075.5_Missense_Mutation_p.A393V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	393	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACAGCAAGCGCATTAGGTCT	0.463000													20	32					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42329846	42329846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329846G>T	ENST00000342228.3	-	2	432	c.63C>A	c.(61-63)gcC>gcA	p.A21A	SLC20A2_ENST00000520262.1_Silent_p.A21A|SLC20A2_ENST00000520179.1_Silent_p.A21A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	21					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAACAGAAAAGGCCAAGATGA	0.463000													5	87					0.000602214	0.000649039	1	1	0
GHRHR	2692	broad.mit.edu	37	7	31009572	31009572	+	Missense_Mutation	SNP	C	C	T	rs138751215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31009572C>T	ENST00000409904.3	+	1	425	c.167C>T	c.(166-168)gCt>gTt	p.A56V	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.A120V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	120					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GAGCTGCTGGCTGAGGAGGTA	0.577000													8	99					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363000													28	48					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183009	56183009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56183009G>A	ENST00000288221.6	-	5	1556	c.1301C>T	c.(1300-1302)aCc>aTc	p.T434I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	434						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCGTACCTTGGTCTTCATAAA	0.358000													41	55					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322515	43322515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43322515G>A	ENST00000361428.2	-	4	2634	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R853*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	853					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGAGCCTCGCAGAGACTCT	0.488000													22	42					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10098024	10098024	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10098024G>A	ENST00000380861.4	+	18	2852	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	WWC3_ENST00000454666.1_Missense_Mutation_p.G821S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	821										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGTGGATAGCGGCTGTAGCAA	0.577000													36	53					0	0	1	0	0
COL6A2	0	broad.mit.edu	37	21	47549280	47549280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549280G>A	ENST00000357838.4	+	28	2714	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	COL6A2_ENST00000397763.1_Missense_Mutation_p.A878T|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTCTACACCGCCGAGCGGGC	0.642000													27	42					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3789871	3789871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3789871C>A	ENST00000324932.7	-	8	1308	c.888G>T	c.(886-888)caG>caT	p.Q296H	NUP98_ENST00000397007.4_Missense_Mutation_p.Q296H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q296H|NUP98_ENST00000397004.4_Missense_Mutation_p.Q296H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q296H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	296	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGCCAGTGTTCTGGGTGGTTG	0.473000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								10	128					0.010729	0.0111717	1	1	0
FAM214A	56204	broad.mit.edu	37	15	52901017	52901017	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901017T>C	ENST00000261844.7	-	6	2246	c.2094A>G	c.(2092-2094)aaA>aaG	p.K698K	FAM214A_ENST00000546305.2_Silent_p.K705K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	698																	TGCTTTCATATTTGTTCAAAT	0.294000													6	78					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44251656G>A	ENST00000601170.1	-	5	840	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	SMG9_ENST00000270066.6_Missense_Mutation_p.R176C			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	176					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572000													10	17					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596598	36596598	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36596598A>G	ENST00000299440.5	+	2	1856	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	582					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGGCATGAGATCCCAAGA	0.493000									Familial Hemophagocytic Lymphohistiocytosis				4	45					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988656	41988656	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41988656T>C	ENST00000219905.7	+	3	1629	c.1448T>C	c.(1447-1449)aTt>aCt	p.I483T	MGA_ENST00000389936.4_Missense_Mutation_p.I483T|MGA_ENST00000566586.1_Missense_Mutation_p.I483T|MGA_ENST00000570161.1_Missense_Mutation_p.I483T|MGA_ENST00000545763.1_Missense_Mutation_p.I483T|MGA_ENST00000568630.1_3'UTR	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	483						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGTTAAGATTTCTGAACTC	0.398000													15	85					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351436	132351436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351436G>A	ENST00000310125.4	-	1	940	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	284	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGGAGCTGTTAAACT	0.478000													37	87					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887080	179887080	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887080A>G	ENST00000435319.3	+	10	1649	c.1458A>G	c.(1456-1458)gcA>gcG	p.A486A	TOR1AIP1_ENST00000271583.3_Silent_p.A502A	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	486						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CATTTCCCGCAGGCTCTACTT	0.443000													5	58					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96214350	96214350	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96214350C>T	ENST00000277165.6	+	1	347	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM120A_ENST00000375389.3_Silent_p.D51D|FAM120A_ENST00000340893.4_Silent_p.D51D|FAM120A_ENST00000333936.5_Silent_p.D51D|FAM120AOS_ENST00000375412.5_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	51						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGCCGACAACTGCCTGC	0.731000													4	1					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176228	160176228	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176228C>A	ENST00000358372.4	+	8	2533	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	259					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCTTCTGAACCTGTAGAACAG	0.557000													15	10					0.000219431	0.000240782	1	1	0
ZNF69	7620	broad.mit.edu	37	19	12015652	12015652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015652G>A	ENST00000429654.2	+	4	580	c.440G>A	c.(439-441)gGt>gAt	p.G147D	ZNF69_ENST00000340180.5_Missense_Mutation_p.G133D			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AACATCAGAGGTGACATTGGA	0.413000													14	192					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126301387	126301387	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126301387G>A	ENST00000525144.2	-	14	1872	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	KIRREL3_ENST00000416561.2_Silent_p.A8A|KIRREL3_ENST00000529097.2_Silent_p.A529A|KIRREL3_ENST00000525704.2_Silent_p.A541A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	541					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGCTCCTACGGCCACCCCAA	0.602000													17	16					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179308017	179308017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179308017C>T	ENST00000325748.4	-	5	691	c.491G>A	c.(490-492)aGg>aAg	p.R164K	PRKRA_ENST00000432031.2_Missense_Mutation_p.R153K|PRKRA_ENST00000487082.1_Missense_Mutation_p.R139K|PRKRA_ENST00000438687.3_Missense_Mutation_p.R51K	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	164	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGACTCTAGCCTGCAAATTGT	0.363000													15	47					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47647241	47647241	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47647241G>T	ENST00000302503.3	-	11	891	c.734C>A	c.(733-735)gCt>gAt	p.A245D	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.A97D	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	245					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTTGTTGACAGCCATAAGATT	0.403000													48	58					4.25531e-23	5.6291e-23	1	1	0
SALL4	57167	broad.mit.edu	37	20	50401032	50401032	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50401032G>A	ENST00000217086.4	-	4	3045	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G	SALL4_ENST00000395997.3_Silent_p.G541G|SALL4_ENST00000371539.3_Silent_p.G201G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	978					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCCAGACCGCCATTGAGCA	0.542000													27	63					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029852	201029852	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201029852G>T	ENST00000362061.3	-	26	3574	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T	CACNA1S_ENST00000367338.3_Silent_p.T1116T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1116					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTAGGAGGAGGTGACAATGT	0.517000													86	193					5.2429e-30	7.02103e-30	1	1	0
CEP95	90799	broad.mit.edu	37	17	62504835	62504835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62504835C>T	ENST00000556440.2	+	2	655	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CEP95_ENST00000581056.1_Missense_Mutation_p.P49S|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	49						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAAAAGGTACCAGGTAAGAA	0.294000													31	84					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59276728	59276728	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59276728A>G	ENST00000320743.3	-	12	1689	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	LRIG3_ENST00000379141.4_Missense_Mutation_p.V408A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	468	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGGCATTTACAAAGCTCTG	0.453000			T	ROS1	NSCLC								6	66					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39224152	39224152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39224152C>A	ENST00000426016.1	-	20	3078	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.G998*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.G998*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	998	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGCTATTTCCCATCGGATTC	0.299000									Noonan syndrome				14	28					0.000219431	0.000240782	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55873189	55873189	+	Missense_Mutation	SNP	C	C	T	rs138370909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55873189C>T	ENST00000313503.1	+	1	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224I(1)|p.T224M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAA	0.388000										HNSCC(53;0.14)			41	90					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114886614	114886614	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114886614A>C	ENST00000374270.3	-	6	981	c.809T>G	c.(808-810)tTt>tGt	p.F270C	SUSD1_ENST00000374264.2_Missense_Mutation_p.F270C|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.F270C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	270	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGGCTCTCAAAGCCCTCTTG	0.522000													37	63					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270205	36270205	+	Missense_Mutation	SNP	C	C	A	rs141744967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36270205C>A	ENST00000394571.2	+	6	1343	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D	PNPLA1_ENST00000312917.5_Missense_Mutation_p.A362D|PNPLA1_ENST00000388715.3_Missense_Mutation_p.A353D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	448	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCCCTGCTCAGCCACCT	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	68					5.62145e-24	7.45113e-24	1	1	0
LYST	1130	broad.mit.edu	37	1	235973133	235973133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235973133G>A	ENST00000389794.3	-	5	1159	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	329					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R329R(1)|p.R329*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438000													18	17					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617000													15	25					3.27435e-08	3.90559e-08	1	1	0
N6AMT1	29104	broad.mit.edu	37	21	30248787	30248787	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30248787T>C	ENST00000303775.5	-	6	590	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	N6AMT1_ENST00000351429.3_Missense_Mutation_p.K161E	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	189					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGCAGACCTTTTGTCTTCATT	0.363000													5	109					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140275240	140275240	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140275240T>C	ENST00000296543.5	+	10	1398	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	NAA15_ENST00000398947.1_Missense_Mutation_p.F359L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	359					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGCCGGTTATTTAACCCCAA	0.308000													11	93					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109086935G>T	ENST00000309863.6	+	6	1864	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	384					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E384Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284000													34	46					7.11191e-15	9.09819e-15	1	1	0
CROCC	9696	broad.mit.edu	37	1	17292335	17292335	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17292335G>A	ENST00000375541.5	+	28	4592	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1508					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCAGTGCGCGGGGCCCTC	0.667000													5	42					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117236	53117236	+	Missense_Mutation	SNP	T	T	G	rs144975187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53117236T>G	ENST00000597597.1	-	2	2835	c.582A>C	c.(580-582)caA>caC	p.Q194H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q194H|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q194H|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q194H|ZNF83_ENST00000545872.1_Missense_Mutation_p.Q194H			P51522	ZNF83_HUMAN	zinc finger protein 83	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCTTTGATGTTGTGCAAGGT	0.378000													19	34					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901675	24901675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24901675G>A	ENST00000251343.5	+	3	1347	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	KHNYN_ENST00000553935.1_Missense_Mutation_p.G403D|KHNYN_ENST00000556842.1_Missense_Mutation_p.G403D			O15037	KHNYN_HUMAN	KH and NYN domain containing	403										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAAACGAGGCGCCCGAGGG	0.657000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066667	9066667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066667T>C	ENST00000397910.4	-	3	20982	c.20779A>G	c.(20779-20781)Act>Gct	p.T6927A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6929	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACAGTTGTATGCCCC	0.468000													125	167					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59102556	59102556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59102556C>A	ENST00000559228.1	+	4	1173	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	FAM63B_ENST00000450403.2_Missense_Mutation_p.P364H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	364										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGATATTCCTTTGTACCAT	0.343000													6	47					0.0215528	0.0221649	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98824578	98824578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824578G>A	ENST00000266058.4	-	6	786	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R181W|SLIT1_ENST00000371070.4_Missense_Mutation_p.R181W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	181					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGCCCCCGCAGAGCACGG	0.582000													39	84					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18539872	18539872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18539872G>A	ENST00000345096.4	-	9	1235	c.536C>T	c.(535-537)gCa>gTa	p.A179V	TBC1D28_ENST00000405044.1_Missense_Mutation_p.A179V			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	179	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGGGTTATATGCAGAATAGGC	0.463000													13	102					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964909	3964909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964909C>T	ENST00000545797.2	-	3	386	c.143G>A	c.(142-144)cGc>cAc	p.R48H	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48H			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGACAGGCGGCGCTTCTT	0.652000													13	35					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924676	105924676	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924676T>A	ENST00000393359.2	-	2	509	c.83A>T	c.(82-84)gAg>gTg	p.E28V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E28V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	28	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCACGCACTCTATGTTGAC	0.597000													4	36					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182424	57182424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57182424C>T	ENST00000395123.2	-	10	1229	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SLC43A3_ENST00000529554.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G322S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G309S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	309					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTCCCCACCGGCCATGTTG	0.592000													12	57					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158779	154158779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154158779C>T	ENST00000360256.4	-	14	3486	c.3286G>A	c.(3286-3288)Gtc>Atc	p.V1096I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1096	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGTTGGACCATTTCCATG	0.378000													43	53					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748345	73748345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73748345G>A	ENST00000200181.3	+	31	4071	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	ITGB4_ENST00000450894.3_Missense_Mutation_p.R1295H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1295H|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1295H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1295H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1295	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCTACCGCTACACGGTG	0.622000													6	120					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656821	150656821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150656821C>A	ENST00000392968.2	-	1	1143	c.23G>T	c.(22-24)aGc>aTc	p.S8I	KCNH2_ENST00000262186.5_Missense_Mutation_p.S104I|KCNH2_ENST00000430723.3_Missense_Mutation_p.S104I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	104					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TAGGAAGCAGCTCCCTGCAGA	0.582000													8	26					1.06961e-07	1.26574e-07	1	1	0
RNASE3	6037	broad.mit.edu	37	14	21359858	21359858	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21359858C>T	ENST00000304639.3	+	2	71	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	5					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGTTCCAAAACTGTTCACTTC	0.502000													5	143					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582000													14	27					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71128943	71128943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71128943C>A	ENST00000452400.2	-	3	219	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	13					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTCTCTGCCCTGGAGGGGTC	0.433000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	116					8.12818e-05	8.99451e-05	1	1	0
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413000													18	103					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37512652	37512652	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37512652G>T	ENST00000432825.2	-	11	2811	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.P446P	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	921						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGCTGCCGAGGGACGTCTGA	0.577000													8	79					1.06961e-07	1.26574e-07	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156589936	156589936	+	Missense_Mutation	SNP	C	C	T	rs144873852	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589936C>T	ENST00000302938.4	-	2	1435	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCCTTGCGGTGATGAGA	0.498000													67	80					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136505010	136505010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136505010C>T	ENST00000393056.2	+	2	394	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	128	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTGGATCCCCAGCAGGACTA	0.612000													8	14					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100396497	100396497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100396497G>A	ENST00000395996.1	+	20	2997	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	VPS13B_ENST00000358544.2_Silent_p.T962T|VPS13B_ENST00000357162.2_Silent_p.T962T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	962					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTATATACGTGGCTCATCT	0.313000													10	99					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483989	36483989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36483989C>A	ENST00000342292.4	-	11	5483	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1821						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532000													68	107					3.94839e-29	5.28253e-29	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149671607	149671607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149671607C>T	ENST00000370401.2	+	6	2414	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*	MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Q677*|MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.Q142*|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Q702*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	702					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGGCGACAGCCCCCGTC	0.612000													12	162					0	0	1	0	0
KLF2	10365	broad.mit.edu	37	19	16437757	16437757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16437757G>A	ENST00000248071.5	+	3	1090	c.983G>A	c.(982-984)gGc>gAc	p.G328D	KLF2_ENST00000592003.1_Missense_Mutation_p.A56T	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	328					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						AAGCACACGGGCCACCGGCCA	0.652000													11	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955587	237955587	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237955587T>G	ENST00000366574.2	+	94	14063	c.13746T>G	c.(13744-13746)atT>atG	p.I4582M	RYR2_ENST00000542537.1_Missense_Mutation_p.I4566M|RYR2_ENST00000360064.6_Missense_Mutation_p.I4588M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4582					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGTCATTTCTTTCTTCT	0.478000													4	51					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172385	70172385	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70172385A>G	ENST00000253925.7	+	6	839	c.624A>G	c.(622-624)gaA>gaG	p.E208E	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.E208E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	208					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCTTAAAGAACAGAATAATC	0.328000													9	17					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	328087	328087	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:328087G>A	ENST00000432829.2	+	9	1072	c.756G>A	c.(754-756)acG>acA	p.T252T	DOCK8_ENST00000469391.1_Silent_p.T252T|DOCK8_ENST00000453981.1_Silent_p.T320T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	320					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCTCACACGCCTTCAGTGG	0.458000													24	35					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118636871	118636871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118636871G>A	ENST00000392533.3	-	13	1669	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	TAOK3_ENST00000419821.2_Silent_p.S393S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	393	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGCACGACGGAGGAGCTGG	0.473000													29	70					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060209	12060209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12060209C>T	ENST00000482090.1	+	3	1734	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	ZNF700_ENST00000254321.5_Missense_Mutation_p.S457F|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTACCTCACAC	0.483000													20	30					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269260	37269260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269260G>T	ENST00000315190.3	+	2	491	c.45G>T	c.(43-45)gaG>gaT	p.E15D		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	15						integral to membrane											GAAGTGTGGAGAATGGAACTT	0.473000													40	56					3.66854e-30	4.91379e-30	1	1	0
GAL	51083	broad.mit.edu	37	11	68453074	68453074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68453074C>T	ENST00000265643.3	+	3	352	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	32					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CAAGGAAAAACGAGGCTGGAC	0.612000													8	13					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38712126	38712126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38712126G>A	ENST00000308742.4	+	2	551	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	ALG10B_ENST00000551464.1_Missense_Mutation_p.A79T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	79					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTCAAACCTGCCATTTGGAT	0.398000													83	147					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256605	157256605	+	Missense_Mutation	SNP	G	G	A	rs142897795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157256605G>A	ENST00000346085.5	+	5	1933	c.1932G>A	c.(1930-1932)atG>atA	p.M644I	ARID1B_ENST00000350026.5_Missense_Mutation_p.M631I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M573I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M631I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	631					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTAGGACATGTCTCAGGAAG	0.383000													14	60					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793311	44793311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44793311C>A	ENST00000291182.4	-	5	379	c.277G>T	c.(277-279)Gca>Tca	p.A93S	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTAATCCTGCTTTGTGAAGA	0.403000													35	41					4.65686e-17	6.02554e-17	1	1	0
FAM98C	147965	broad.mit.edu	37	19	38897713	38897713	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38897713A>T	ENST00000252530.5	+	7	933	c.914A>T	c.(913-915)aAc>aTc	p.N305I	FAM98C_ENST00000588262.1_Missense_Mutation_p.Q171H|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	305										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGCCATCAACAAGGTGGGC	0.597000													6	96					0	0	1	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27934865	27934865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27934865G>A	ENST00000394859.3	+	2	374	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	74										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGCGCAGACGTGGGCAGGGA	0.697000													10	25					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602108	48602108	+	Silent	SNP	C	C	T	rs144420824	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602108C>T	ENST00000340553.3	+	7	1083	c.822C>T	c.(820-822)taC>taT	p.Y274Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	274					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGAGGAGTTACGGCAATGCAT	0.388000													15	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494054	179494054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494054C>A	ENST00000589042.1	-	240	44622	c.44398G>T	c.(44398-44400)Ggg>Tgg	p.G14800W	TTN_ENST00000460472.2_Missense_Mutation_p.G5735W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12232W|TTN_ENST00000359218.5_Missense_Mutation_p.G5860W|TTN_ENST00000342175.6_Missense_Mutation_p.G5927W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13159W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13159	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCTTCCCTTTGAGATAC	0.478000													5	38					0.00116845	0.00124821	1	1	0
GABPB1	2553	broad.mit.edu	37	15	50570866	50570866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570866G>A	ENST00000380877.3	-	9	1538	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	GABPB1_ENST00000543881.1_Missense_Mutation_p.A308V|GABPB1_ENST00000220429.8_Missense_Mutation_p.A384V	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	384					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACGAGTCATAGCTTCCAACTT	0.378000													41	60					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906730	38906730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38906730G>A	ENST00000312150.4	-	6	1137	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	359	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGGCCCTCGGTCTCGGTTC	0.567000													16	247					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845564	248845564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248845564C>T	ENST00000342623.3	-	1	65	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TACCAGAAAACTCCATCAGCA	0.448000													17	16					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35672579	35672579	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672579T>G	ENST00000373664.3	-	13	1746	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	RBL1_ENST00000344359.3_Missense_Mutation_p.E560D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483000													22	38					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710636	103710636	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103710636G>A	ENST00000245312.3	-	2	1070	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	158					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAATTACGATGCTCCCAG	0.502000													18	43					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67198887	67198887	+	Missense_Mutation	SNP	C	C	T	rs113335412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67198887C>T	ENST00000312629.5	+	5	403	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120W|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	120	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGGGCTGAGCGGAACATTCT	0.527000													15	33					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41339616	41339616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41339616G>A	ENST00000361937.3	-	23	3149	c.2725C>T	c.(2725-2727)Ctt>Ttt	p.L909F	INO80_ENST00000401393.3_Missense_Mutation_p.L909F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	909	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGCCAAAAGTCCCTGAAGC	0.343000													19	19					0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123949285	123949285	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123949285A>G	ENST00000373840.4	-	5	534	c.297T>C	c.(295-297)taT>taC	p.Y99Y		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	99					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGTGGTTATATGTACTTC	0.269000													7	79					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93260993	93260993	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260993G>T	ENST00000446394.1	+	21	2224	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	HECTD2_ENST00000536715.1_Missense_Mutation_p.K293N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K354N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K704N			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	704	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTCAAAAGAAGTTGCTAC	0.348000													30	52					1.2476e-16	1.61147e-16	1	1	0
SNX31	169166	broad.mit.edu	37	8	101642602	101642602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101642602C>T	ENST00000311812.2	-	4	424	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	92	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCAACACGTTTGGGTCC	0.493000													7	12					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938692	2938692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938692G>A	ENST00000378404.2	+	1	647	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCTCTACGCCTCTGCCTG	0.617000													15	26					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972444	235972444	+	Silent	SNP	C	C	T	rs149520131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235972444C>T	ENST00000389794.3	-	5	1848	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	LYST_ENST00000389793.2_Silent_p.L558L|LYST_ENST00000536965.1_Silent_p.L558L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	558					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAGTAAGCGCAAGCACTGAT	0.453000													13	91					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054372	242054372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242054372C>T	ENST00000403638.3	-	14	3510	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	PASK_ENST00000405260.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000234040.4_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGAGAGAACCGAGTATGGAT	0.478000													45	54					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320202	46320202	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46320202T>A	ENST00000465950.1	-	1	3546	c.2337A>T	c.(2335-2337)gaA>gaT	p.E779D	SCAF11_ENST00000549162.1_Missense_Mutation_p.E902D|SCAF11_ENST00000419565.2_Missense_Mutation_p.E1094D|SCAF11_ENST00000369367.3_Missense_Mutation_p.E1094D			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1094					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCCACCGATTTTCATTCTGAT	0.433000													7	66					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C|SMC6_ENST00000351948.4_Missense_Mutation_p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333000													27	30					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755085	6755085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6755085C>T	ENST00000245908.6	-	5	1007	c.738G>A	c.(736-738)ccG>ccA	p.P246P	SH2D3A_ENST00000437152.3_Silent_p.P124P|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	246					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGCTTTGGCTCGGGGATGTTC	0.612000													7	303					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671223	7671223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7671223C>T	ENST00000572933.1	+	23	5141	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	DNAH2_ENST00000389173.2_Silent_p.L1227L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1227	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTAGGAGCTCGATGCCCTCC	0.602000													11	25					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228017	112228017	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112228017C>T	ENST00000391338.1	+	1	705	c.681C>T	c.(679-681)gaC>gaT	p.D227D	SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						ATGACCCTGACGCAAGCCTGG	0.453000													31	53					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70469915	70469915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70469915G>A	ENST00000373978.1	-	5	1000	c.923C>T	c.(922-924)cCg>cTg	p.P308L	ZMYM3_ENST00000373981.1_Silent_p.A404A|ZMYM3_ENST00000373982.1_Silent_p.A406A|ZMYM3_ENST00000373988.1_Silent_p.A406A|ZMYM3_ENST00000314425.5_Silent_p.A404A|ZMYM3_ENST00000373984.3_Silent_p.A406A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.A404A|ZMYM3_ENST00000353904.2_Silent_p.A404A			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGTAGCGTCGGCGGGATCCC	0.622000													3	10					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46677495	46677495	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46677495G>T	ENST00000381031.3	+	7	691		c.e7-1		TTC38_ENST00000445282.2_Splice_Site	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38								binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACCCTGCGTAGGCTTTATCTA	0.577000													20	60					4.63292e-17	5.99748e-17	1	1	0
PHTF2	57157	broad.mit.edu	37	7	77579012	77579012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77579012G>A	ENST00000416283.2	+	15	2001	c.1875G>A	c.(1873-1875)gaG>gaA	p.E625E	PHTF2_ENST00000248550.7_Silent_p.E659E|PHTF2_ENST00000422959.2_Silent_p.E625E|PHTF2_ENST00000307305.8_Silent_p.E621E|PHTF2_ENST00000275575.7_Intron	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGTACACGAGATCTTCCTTG	0.328000													10	5					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096345	129096345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129096345G>A	ENST00000249344.2	+	9	940	c.900G>A	c.(898-900)ctG>ctA	p.L300L	STRIP2_ENST00000435494.2_Silent_p.L300L	NM_020704.2	NP_065755.1			striatin interacting protein 2																		AATTGGGCCTGCCTCCACTGG	0.562000													5	115					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306199	23306199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306199G>T	ENST00000258733.4	+	7	1377	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	GPNMB_ENST00000539136.1_Missense_Mutation_p.R262I|GPNMB_ENST00000381990.2_Missense_Mutation_p.R373I|GPNMB_ENST00000453162.2_Missense_Mutation_p.R315I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	373					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATTAACAGATATGGCCAC	0.478000													5	51					1.23904e-05	1.39987e-05	1	1	0
PDGFD	80310	broad.mit.edu	37	11	103870879	103870879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870879G>A	ENST00000302251.5	-	2	662	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	PDGFD_ENST00000393158.2_Silent_p.L77L	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	77	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTCAGGAGCAGGTTCCTGGGG	0.483000													48	104					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24494740	24494740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24494740G>A	ENST00000355123.4	-	19	2595	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R718*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R691*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	718					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcctggagtcgcttttgtttt	0.338000													33	47					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73161801	73161801	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73161801G>A	ENST00000545377.1	+	18	2291	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	ARHGEF28_ENST00000437974.1_Silent_p.E705E|ARHGEF28_ENST00000287898.5_Silent_p.E705E|ARHGEF28_ENST00000296794.6_Silent_p.E705E|ARHGEF28_ENST00000296799.4_Silent_p.E392E|ARHGEF28_ENST00000513042.2_Silent_p.E705E|ARHGEF28_ENST00000426542.2_Silent_p.E705E	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AATTCCAAGAGAAATATAACA	0.284000													11	10					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93534732	93534732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93534732G>A	ENST00000394196.4	+	27	4508	c.3440G>A	c.(3439-3441)gGt>gAt	p.G1147D	CHD2_ENST00000557381.1_Missense_Mutation_p.G1147D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1147					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGTTTGGTCTCCCTCTT	0.308000													23	61					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153034402	153034402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153034402G>T	ENST00000538966.1	+	6	1606		c.e6-1		PLXNB3_ENST00000361971.5_Splice_Site|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000538282.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCACTCAGGTCTTTCTCC	0.627000													5	108					0.0293803	0.0301098	1	1	0
APLNR	187	broad.mit.edu	37	11	57003773	57003773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57003773G>A	ENST00000606794.1	-	1	902	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	236						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCTCGATGCGTTCCTTGCGG	0.612000													6	48					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004711	75004711	+	Missense_Mutation	SNP	G	G	T	rs140206798	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75004711G>T	ENST00000373359.2	-	1	368	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597000													27	31					4.59853e-10	5.63411e-10	1	1	0
GAPT	202309	broad.mit.edu	37	5	57790694	57790694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57790694C>T	ENST00000396776.2	+	3	793	c.331C>T	c.(331-333)Cta>Tta	p.L111L	GAPT_ENST00000318469.2_Silent_p.L111L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	111					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATAAGGAACTATATGAAAA	0.418000													33	55					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24084146	24084146	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24084146C>A	ENST00000253039.4	+	8	1057	c.804C>A	c.(802-804)ggC>ggA	p.G268G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	268						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ACAAACCTGGCTGTGAAGTTG	0.313000													9	196					2.17888e-05	2.45068e-05	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	13185202	13185202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185202C>T	ENST00000379345.2	+	5	642	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	512						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCCTGCCTCCCAAACCCACT	0.562000													17	20					0	0	1	0	0
MRPS28	28957	broad.mit.edu	37	8	80831363	80831363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80831363C>A	ENST00000276585.4	-	3	438	c.416G>T	c.(415-417)aGg>aTg	p.R139M	MRPS28_ENST00000521434.1_Missense_Mutation_p.R77M|MRPS28_ENST00000521605.1_Missense_Mutation_p.Q78H	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	139						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAACCGGACCCTGGTTCCTTT	0.358000													10	72					0.000442599	0.00048047	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84666263	84666263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84666263C>T	ENST00000284136.6	-	10	1176	c.1133G>A	c.(1132-1134)aGt>aAt	p.S378N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	378	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATGGTCTGCACTTTCCTTATG	0.403000													11	116					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814401	2814401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814401C>T	ENST00000301740.8	+	11	4421	c.3872C>T	c.(3871-3873)gCt>gTt	p.A1291V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1291	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTCACAGGCTTCTTTGGAA	0.453000													68	142					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70723131	70723131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70723131G>A	ENST00000354185.4	+	4	790	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	231	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473000													33	56					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10105596	10105596	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10105596G>T	ENST00000287647.3	+	21	2040		c.e21+1		FANCD2_ENST00000419585.1_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAAGCCCTGGTAAAGCCAAT	0.423000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	59					4.87955e-14	6.21198e-14	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954554	35954554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954554C>A	ENST00000274278.3	-	7	1679	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	441						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATGACACTGGCTGCCAC	0.587000													6	29					0.0293803	0.0301098	1	1	0
ITGA1	3672	broad.mit.edu	37	5	52227879	52227879	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52227879A>T	ENST00000282588.6	+	22	3232	c.2774A>T	c.(2773-2775)gAc>gTc	p.D925V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	925					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.D925G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTCTAGTGACAGCGAAGAA	0.353000													11	35					0	0	1	0	0
SNN	8303	broad.mit.edu	37	16	11769944	11769944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11769944C>T	ENST00000329565.5	+	2	241	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	10					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						AGCCCCACCACGGGCGTGGTC	0.637000													14	21					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2027420	2027420	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2027420C>A	ENST00000568546.1	+	16	1863	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	579					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGCAGCTGCTGTCCAGGTG	0.657000													16	26					7.07596e-05	7.86387e-05	1	1	0
PPP1R15A	23645	broad.mit.edu	37	19	49376947	49376947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49376947G>T	ENST00000200453.5	+	2	726	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	153	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACACTGCAAGGTTCTGATAA	0.547000													26	47					1.1804e-14	1.50872e-14	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26962484	26962484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26962484C>T	ENST00000528896.2	-	16	2195	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	KIAA0100_ENST00000389003.3_Silent_p.E564E|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.E564E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	707						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGAAGTCTCTAGTGCAA	0.537000													25	42					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154962879	154962879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154962879C>T	ENST00000292180.3	+	5	1751	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000368428.1_Missense_Mutation_p.R18W|FLAD1_ENST00000368432.1_Missense_Mutation_p.R380W|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R380W|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	477	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGCAGGCACGGCACCCCCA	0.627000													13	29					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766653	77766653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766653C>A	ENST00000521891.2	+	10	7944	c.7496C>A	c.(7495-7497)aCa>aAa	p.T2499K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2473K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2454K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2454K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2454						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCAGTGTACAGTTGCCTTC	0.493000										HNSCC(33;0.089)			8	88					0.00307968	0.00325696	1	1	0
PHRF1	57661	broad.mit.edu	37	11	608157	608157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608157G>A	ENST00000264555.5	+	14	2829	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	PHRF1_ENST00000416188.2_Missense_Mutation_p.A900T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A897T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A899T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	901							RNA polymerase binding|zinc ion binding	p.A906S(1)|p.A901S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCGTCCTCCGCCATGTCCAA	0.692000													29	37					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855724	31855724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31855724C>T	ENST00000396184.3	-	16	1831	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	PDE1C_ENST00000396182.2_Missense_Mutation_p.A543T|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A543T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603T|PDE1C_ENST00000396191.1_Missense_Mutation_p.A543T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	543					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A543S(2)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCTCCTCTGCGGCCAGGCGA	0.502000													10	180					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31742304	31742304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31742304G>A	ENST00000375686.3	-	5	947	c.710C>T	c.(709-711)cCg>cTg	p.P237L	VWA7_ENST00000375688.4_Missense_Mutation_p.P237L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.P237L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	237						extracellular region											TGGAGGTTTCGGGGGATGAGT	0.542000													8	36					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585172	182585172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182585172T>C	ENST00000323116.5	+	15	1888	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	543					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGATTGGTATTGTGTTTATT	0.289000													7	54					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182579	99182579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99182579G>A	ENST00000074304.5	+	22	2775	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	INPP4A_ENST00000409463.1_Silent_p.V123V|INPP4A_ENST00000409016.3_Silent_p.V755V|INPP4A_ENST00000409540.3_Silent_p.V755V|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Silent_p.V755V|INPP4A_ENST00000523221.1_Silent_p.V794V|INPP4A_ENST00000409851.3_Silent_p.V789V	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	794					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGCGAGTGCAGCCCGTCC	0.667000													4	4					0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30666927	30666927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30666927G>A	ENST00000577809.1	-	3	301	c.252C>T	c.(250-252)tcC>tcT	p.S84S	C17orf75_ENST00000225805.4_Silent_p.S84S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	84					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCACTTCGGATGGTAGAT	0.458000													28	49					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781759	128781759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781759G>A	ENST00000529694.1	+	2	967	c.591G>A	c.(589-591)gcG>gcA	p.A197A	KCNJ5_ENST00000533599.1_Silent_p.A197A|KCNJ5_ENST00000338350.4_Silent_p.A197A	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	197					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGAAGAGAGCGGAGACCCTCA	0.567000													52	55					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026160	64026160	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64026160C>A	ENST00000540288.1	+	11	1331	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	PLCB3_ENST00000325234.5_Missense_Mutation_p.L343I|PLCB3_ENST00000279230.6_Missense_Mutation_p.L410I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	410	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCGTCATCCTCTCCTTCGA	0.602000													22	35					1.85244e-09	2.25385e-09	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40368705	40368705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40368705C>T	ENST00000221347.6	-	28	12650	c.12643G>A	c.(12643-12645)Ggg>Agg	p.G4215R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4215	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCAGAGCCCGCACACTGCG	0.607000													5	177					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76254685	76254685	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:76254685C>A	ENST00000274368.4	+	5	1086	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CRHBP_ENST00000514258.1_3'UTR|CRHBP_ENST00000506501.1_Missense_Mutation_p.L222M	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	222					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGATCTTACCCTGGGACACGT	0.413000													13	39					5.50884e-06	6.28354e-06	1	1	0
RWDD2B	10069	broad.mit.edu	37	21	30378931	30378931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30378931C>T	ENST00000493196.1	-	5	867	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	256										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AATGTCTTCTCGATGGCGAAT	0.318000													5	16					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47479645G>A	ENST00000285039.7	-	14	2036	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	579	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537000													17	26					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149439387	149439387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149439387C>T	ENST00000286301.3	-	15	2299	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	670	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGAGCAGGTCGCCATAGCAA	0.612000													19	38					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191231	152191231	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152191231T>C	ENST00000368801.2	-	3	2949	c.2874A>G	c.(2872-2874)gaA>gaG	p.E958E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTTCGTAGCTGG	0.552000													18	206					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189515	167189515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167189515C>A	ENST00000476257.1	-	3	406	c.108G>T	c.(106-108)gaG>gaT	p.E36D	SERPINI2_ENST00000471111.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E36D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	36					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAAGGAAACCTCTTGATAAA	0.398000													18	112					3.41278e-10	4.19267e-10	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222365844	222365844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222365844G>A	ENST00000281821.2	-	4	913	c.872C>T	c.(871-873)gCc>gTc	p.A291V	EPHA4_ENST00000392071.4_Missense_Mutation_p.A240V|EPHA4_ENST00000409854.1_Missense_Mutation_p.A291V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A291V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	291	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGGCACTTGGCACAGGTGGC	0.507000													20	46					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128641137	128641137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641137G>A	ENST00000393245.1	-	6	1221	c.848C>T	c.(847-849)gCc>gTc	p.A283V	TNPO3_ENST00000471234.1_Missense_Mutation_p.A283V|TNPO3_ENST00000471166.1_Missense_Mutation_p.A283V|TNPO3_ENST00000265388.5_Missense_Mutation_p.A283V|TNPO3_ENST00000482320.1_Missense_Mutation_p.A217V	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	283					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACGTGCCACGGCCATATGATA	0.428000													44	105					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117945001	117945001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117945001G>T	ENST00000356554.3	+	2	1231	c.496G>T	c.(496-498)Gga>Tga	p.G166*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	166					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAACCTTGTAGGAATACGTGG	0.383000													29	39					4.65686e-17	6.02554e-17	1	1	0
MASP1	5648	broad.mit.edu	37	3	186943254	186943254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186943254G>A	ENST00000337774.5	-	13	1988	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	533	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTTGACGCCGAGATGCTGTT	0.532000													10	130					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686756	6686756	+	Splice_Site	SNP	C	C	T	rs113847049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6686756C>T	ENST00000245907.6	-	28	3739		c.e28+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAACCCTCACCTTTGGCTGT	0.552000													99	175					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27944687	27944687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27944687G>A	ENST00000381271.2	+	2	1230	c.919G>A	c.(919-921)Gga>Aga	p.G307R		NM_020782.1	NP_065833.1			kelch-like family member 42									p.G307R(1)									CTATGCCATCGGAGGGCAGGC	0.478000													80	126					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40777351	40777351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40777351C>A	ENST00000372748.3	-	9	550	c.454G>T	c.(454-456)Gga>Tga	p.G152*		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	152	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGGGGGTCCTGGGGGCCCC	0.607000													10	89					2.74318e-10	3.37541e-10	1	1	0
SAMM50	25813	broad.mit.edu	37	22	44360381	44360381	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44360381A>G	ENST00000350028.4	+	3	339	c.182A>G	c.(181-183)gAt>gGt	p.D61G	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	61					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTAAAGATGATATCATCATT	0.398000													23	80					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21492725	21492725	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21492725G>A	ENST00000313654.9	+	56	7450	c.7209G>A	c.(7207-7209)ctG>ctA	p.L2403L	LAMA3_ENST00000399516.3_Silent_p.L2347L|LAMA3_ENST00000587184.1_Silent_p.L738L|LAMA3_ENST00000269217.6_Silent_p.L794L|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2403	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCCGACTGCCAAATGACC	0.438000													23	42					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183213	6183213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6183213G>A	ENST00000588304.1	+	10	1548	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACSBG2_ENST00000586696.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E418K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E231K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	418					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTATAGGCGAGTTGTATGG	0.537000													18	44					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27649407	27649407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27649407G>A	ENST00000282344.6	-	7	1109	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	285					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTAAACAGACGAAGTTCTAAA	0.423000													16	34					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355428	10355428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10355428C>T	ENST00000255381.2	-	27	3678	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1190					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCGTGGCTTCGTGCTGCAGG	0.582000													38	39					0	0	1	0	0
RANBP1	5902	broad.mit.edu	37	22	20109792	20109792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20109792C>T	ENST00000402752.1	+	3	384	c.158C>T	c.(157-159)gCa>gTa	p.A53V	RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Missense_Mutation_p.A53V	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN	RAN binding protein 1	53	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGCAGGCGGGCAAAACTGTTC	0.577000													10	22					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260799	58260799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58260799G>A	ENST00000300896.4	-	31	4044	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R954*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1284					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGAAATCGCTTAAGGTGA	0.343000													37	42					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587828	23587828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23587828G>A	ENST00000206513.5	-	1	997	c.473C>T	c.(472-474)aCt>aTt	p.T158I		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682000													3	13					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535318	10535318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10535318G>T	ENST00000583535.1	-	35	5059	c.4972C>A	c.(4972-4974)Ctg>Atg	p.L1658M	MYH3_ENST00000226209.7_Missense_Mutation_p.L1658M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1658					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCATCATCCAGGTGGAGCTGC	0.567000													4	37					0.00024832	0.0002712	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465534	10465534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465534G>A	ENST00000382483.3	-	4	6297	c.6074C>T	c.(6073-6075)gCc>gTc	p.A2025V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2025					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGGCTGGGCCTCTACACC	0.612000													89	125					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138362650	138362650	+	Missense_Mutation	SNP	C	C	T	rs138300781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138362650C>T	ENST00000394817.2	-	6	624	c.485G>A	c.(484-486)cGc>cAc	p.R162H	SIL1_ENST00000509534.1_Missense_Mutation_p.R169H|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.R162H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	162	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAATGGGGCGGAAGAGCCG	0.473000									Marinesco-Sjgren syndrome				15	20					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004288	40004288	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40004288A>T	ENST00000293303.4	+	5	1709	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	519						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CCTCGTAGCAATTTTGGCATC	0.478000													36	45					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877767	28877767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28877767G>A	ENST00000337120.5	+	1	3643	c.352G>A	c.(352-354)Gct>Act	p.A118T	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.A118T|SH2B1_ENST00000359285.5_Missense_Mutation_p.A118T|SH2B1_ENST00000395532.4_Missense_Mutation_p.A118T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	118	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGGGCCCCTGGCTGTGCTGGG	0.637000													3	33					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35654958	35654958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35654958C>T	ENST00000357214.5	-	5	1539	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	481					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCATGCTGGGCAAAACGAGGA	0.393000			T	TFE3	papillary renal cell								12	20					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082939	152082939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082939G>A	ENST00000368804.1	-	2	2753	c.2754C>T	c.(2752-2754)cgC>cgT	p.R918R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	918	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTTCTCGCGCTCCTCTC	0.592000													88	83					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711226	12711226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12711226C>T	ENST00000376221.1	+	2	253	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	85						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAAAAGGACCCTGAACTTGT	0.483000													32	58					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883718	150883718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150883718G>T	ENST00000474524.1	+	10	1481	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MED12L_ENST00000309237.4_Missense_Mutation_p.E481D|MED12L_ENST00000422248.2_Missense_Mutation_p.E481D|MED12L_ENST00000273432.4_Missense_Mutation_p.E341D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	481					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCATGGAGACACTTTATC	0.353000													10	108					9.70103e-10	1.18443e-09	1	1	0
UBE2J2	118424	broad.mit.edu	37	1	1192381	1192381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1192381C>T	ENST00000347370.2	-	5	722	c.249G>A	c.(247-249)tcG>tcA	p.S83S	UBE2J2_ENST00000349431.6_Silent_p.S135S|UBE2J2_ENST00000400929.2_Silent_p.S83S|UBE2J2_ENST00000360466.2_Silent_p.S135S|UBE2J2_ENST00000339385.6_Silent_p.S100S|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000348298.7_Silent_p.S83S|UBE2J2_ENST00000400930.4_Silent_p.S151S	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	135					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTGAAGTCCGACGTCTCTA	0.577000													33	63					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700890	53700890	+	Missense_Mutation	SNP	G	G	A	rs138116397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53700890G>A	ENST00000267103.5	+	7	1140	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	C12orf10_ENST00000548632.1_Missense_Mutation_p.R288H|C12orf10_ENST00000549488.1_Missense_Mutation_p.R200H	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	363										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGCATGGCCCGTGCCACCTTG	0.567000													6	69					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82563946	82563946	+	Missense_Mutation	SNP	C	C	T	rs145916991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82563946C>T	ENST00000339465.5	+	2	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L|FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	19								p.S19L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323000													15	16					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181440	46181440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46181440C>T	ENST00000590918.1	+	12	1207	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	GIPR_ENST00000304207.8_Missense_Mutation_p.R334C|GIPR_ENST00000263281.3_Missense_Mutation_p.R370C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	370				GALRF -> APCV (in Ref. 3; CAA57426).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGGCGCCCTGCGCTTCGCCAA	0.677000													5	6					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66859167	66859167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66859167C>T	ENST00000359742.4	-	8	1000	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GRIP1_ENST00000398016.3_Missense_Mutation_p.E254K|GRIP1_ENST00000286445.7_Missense_Mutation_p.E254K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	254	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGCAACTTCGACTAGTAGT	0.408000													24	45					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68687668	68687668	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68687668C>T	ENST00000509734.1	+	12	1728	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RAD17_ENST00000282891.6_Silent_p.N253N|RAD17_ENST00000305138.4_Silent_p.N339N|RAD17_ENST00000354312.3_Silent_p.N339N|RAD17_ENST00000358030.2_Silent_p.N174N|RAD17_ENST00000380774.3_Silent_p.N350N|RAD17_ENST00000361732.2_Silent_p.N339N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Silent_p.N174N|RAD17_ENST00000345306.6_Silent_p.N339N|RAD17_ENST00000354868.5_Silent_p.N339N			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	350					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGAAAACAACTTACGGCCAA	0.289000								Other conserved DNA damage response genes					10	71					0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118694317	118694317	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118694317G>T	ENST00000320339.4	-	2	280	c.9C>A	c.(7-9)ccC>ccA	p.P3P	CXorf56_ENST00000486230.1_Silent_p.P52P|CXorf56_ENST00000371594.4_Silent_p.P52P|CXorf56_ENST00000476164.1_Silent_p.P52P|CXorf56_ENST00000536133.1_Silent_p.P52P	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	52							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ACCGGTCCCGGGGCCTCATGG	0.458000													10	161					4.68919e-08	5.58064e-08	1	1	0
PDE4A	5141	broad.mit.edu	37	19	10561606	10561606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10561606G>A	ENST00000380702.2	+	7	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	PDE4A_ENST00000352831.6_Missense_Mutation_p.A258T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A197T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A236T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A232T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	258					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCGAGATGGCCTCGCACAA	0.662000													3	7					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56867069	56867069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56867069G>A	ENST00000311966.4	-	14	1670	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	464					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCAGGTTGTCATAGTTGT	0.423000													22	30					0	0	1	0	0
TMED10	10972	broad.mit.edu	37	14	75643203	75643203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75643203C>A	ENST00000303575.4	-	1	131	c.80G>T	c.(79-81)aGa>aTa	p.R27I		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	27					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AAGGACCAATCTGGGGCCGAG	0.582000													8	78					0.0581538	0.0593651	1	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43531380	43531380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531380G>A	ENST00000430334.3	-	7	1971	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A524V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	613	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGTCCTCAGCTTCGTCCTG	0.642000													9	22					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054159	40054159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40054159G>A	ENST00000402142.3	+	11	1995	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	CACNA1I_ENST00000407673.1_Silent_p.P630P|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000404898.1_Silent_p.P630P|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000401624.1_Silent_p.P665P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	665					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCACAGCCGGAGGAGCTGA	0.607000													30	75					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108070930	108070930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108070930C>T	ENST00000369022.2	-	2	279	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SCML4_ENST00000369021.3_Missense_Mutation_p.A53T|SCML4_ENST00000369020.3_Missense_Mutation_p.A82T			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCGTGGCTGCGTCCTGAGGG	0.602000													8	78					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814684	106814684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:106814684C>T	ENST00000407775.2	+	8	2624	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	792					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGATATCTTTCCAGGAATTGT	0.438000													9	13					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242188	155242188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155242188C>A	ENST00000357232.3	-	14	2997	c.2998G>T	c.(2998-3000)Gac>Tac	p.D1000Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1000	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTGAGCTGTCTATTTCAAAG	0.348000													56	86					5.39261e-20	7.06762e-20	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38793748	38793748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38793748G>A	ENST00000449082.2	-	11	1716	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	573					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGTGGGCGGCGGTTGG	0.597000													21	46					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3558334	3558334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3558334G>A	ENST00000571025.1	+	4	315	c.265G>A	c.(265-267)Gca>Aca	p.A89T	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000576634.1_Missense_Mutation_p.A89T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A89T			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	89						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTTATCAAGCAGATGGGTA	0.393000													27	76					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288419	27288419	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27288419G>A	ENST00000397501.1	+	13	1504	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PTK2B_ENST00000517339.1_Silent_p.Q232Q|PTK2B_ENST00000420218.2_Silent_p.Q232Q|PTK2B_ENST00000544172.1_Silent_p.Q232Q|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000338238.4_Silent_p.Q232Q|PTK2B_ENST00000346049.5_Silent_p.Q232Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	232	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGATGATCCAGCAGACCTTCC	0.602000													19	35					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222254	56222254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56222254C>A	ENST00000357606.3	-	3	478	c.189G>T	c.(187-189)caG>caT	p.Q63H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q63H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q63H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	63					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTTTGGGTGCTGTGTGTGCT	0.577000													13	122					0.411799	0.413423	1	1	0
CRP	1401	broad.mit.edu	37	1	159683348	159683348	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159683348G>A	ENST00000255030.5	-	2	745	c.642C>T	c.(640-642)ggC>ggT	p.G214G	CRP_ENST00000343919.2_Silent_p.G92G|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.G92G|CRP_ENST00000368111.1_Silent_p.G92G|CRP_ENST00000437342.1_Silent_p.G36G|CRP_ENST00000368112.1_Silent_p.G81G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAACACTTCGCCTTGCACTT	0.552000													9	63					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65554633	65554633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65554633C>A	ENST00000304874.9	+	14	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.T312N|ASL_ENST00000395331.3_Missense_Mutation_p.T318N|ASL_ENST00000395332.3_Missense_Mutation_p.T338N|AC068533.7_ENST00000450043.1_Missense_Mutation_p.H106Q	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	338					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTCAGACACTATGAGTGCC	0.637000													15	28					0.146539	0.149173	1	1	0
EIF1AD	84285	broad.mit.edu	37	11	65766122	65766122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65766122C>T	ENST00000312234.2	-	6	780	c.446G>A	c.(445-447)cGc>cAc	p.R149H	EIF1AD_ENST00000527249.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000526451.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000525767.1_Missense_Mutation_p.R97H	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	149						nucleus	translation initiation factor activity			lung(5)	5						ATACTGTCTGCGGTTTGTGTT	0.532000													10	200					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62190668	62190668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62190668G>A	ENST00000467148.1	-	19	7950	c.7881C>T	c.(7879-7881)tgC>tgT	p.C2627C	HELZ2_ENST00000427522.2_Silent_p.C2058C	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCTGAGCCTCGCAGAAGTCCA	0.652000													6	6					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261476	33261476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33261476C>A	ENST00000334528.9	-	4	1756	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	FMN1_ENST00000559047.1_Missense_Mutation_p.R809I|FMN1_ENST00000561249.1_Missense_Mutation_p.R711I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	809	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468000													44	366					4.86159e-25	6.45825e-25	1	1	0
NRP1	8829	broad.mit.edu	37	10	33469177	33469177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33469177G>T	ENST00000265371.4	-	18	3124	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	NRP1_ENST00000374867.2_Missense_Mutation_p.L867M|NRP1_ENST00000395995.1_Missense_Mutation_p.L850M			O14786	NRP1_HUMAN	neuropilin 1	867					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGGACCCCCAGGGCACTCATG	0.527000													13	115					0.00244969	0.00259885	1	1	0
ADPRM	56985	broad.mit.edu	37	17	10614224	10614224	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10614224C>T	ENST00000379774.4	+	4	883	c.792C>T	c.(790-792)gtC>gtT	p.V264V		NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		CCCTGGCAGTCATTTGGTCTC	0.483000													27	47					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304804	114304804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114304804G>A	ENST00000309235.5	+	6	1747	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	530					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GACTGTGGGAGACCCTTTAGT	0.388000													4	73					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44587904	44587904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44587904T>C	ENST00000322927.2	-	15	2289	c.2189A>G	c.(2188-2190)gAg>gGg	p.E730G	ZNF335_ENST00000426788.1_Missense_Mutation_p.E575G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTTCAGCTCCTCAATCTGCTG	0.652000													3	93					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336296	141336296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141336296G>T	ENST00000231484.3	-	1	2331	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	374	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGACAAGAGCAATAAAACT	0.507000													33	73					3.11337e-16	4.01248e-16	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156914914	156914914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156914914G>A	ENST00000368194.3	-	30	3927	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.A923V|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A339V	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	923					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTTTACCGCTTCATTCAC	0.577000													53	100					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130444731	130444731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130444731C>T	ENST00000373302.3	+	18	1733	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	STXBP1_ENST00000373299.1_Missense_Mutation_p.R532C|STXBP1_ENST00000481942.1_Intron	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	532					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AGGCGAGTACCGCAGTGGCCC	0.572000													27	33					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43580536	43580536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580536G>A	ENST00000372813.3	-	4	640	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	163					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	p.S163L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527000													32	58					0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456919	131456919	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131456919G>T	ENST00000322030.8	+	8	1167		c.e8-1		SET_ENST00000409104.3_Splice_Site|SET_ENST00000372688.4_Splice_Site|SET_ENST00000372692.4_Splice_Site	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene						DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTTCTTTCAGGAGGATGAAG	0.443000			T	NUP214	AML								8	84					0.00307968	0.00325696	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39505913	39505913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39505913G>T	ENST00000265707.5	+	12	1142	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ADAM18_ENST00000379866.1_Missense_Mutation_p.R342I|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	366	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACGACTATAGATATTTTGTT	0.348000													20	41					3.10358e-05	3.48756e-05	1	1	0
PCIF1	63935	broad.mit.edu	37	20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576240C>T	ENST00000372409.3	+	17	2325	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	654						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCCAAGTGGGCGCCGACGCCT	0.622000													10	27					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201166G>A	ENST00000537081.1	-	12	1417	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.T480M			O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537000													34	60					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48642153	48642153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48642153G>T	ENST00000203407.5	-	4	774	c.358C>A	c.(358-360)Ctt>Att	p.L120I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	120					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TAGGCATTAAGATGGGCCCCC	0.557000													14	16					2.23348e-06	2.57349e-06	1	1	0
ZNF829	374899	broad.mit.edu	37	19	37383201	37383201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37383201G>T	ENST00000520965.1	-	6	801	c.735C>A	c.(733-735)acC>acA	p.T245T	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.T164T|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTAAAGGTCTTTCCAC	0.363000													9	18					1.12685e-05	1.27857e-05	1	1	0
LRAT	9227	broad.mit.edu	37	4	155670276	155670276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155670276G>A	ENST00000336356.3	+	3	934	c.681G>A	c.(679-681)tgG>tgA	p.W227*	LRAT_ENST00000507827.1_Nonsense_Mutation_p.W227*	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	227					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTTCCTATGGATGGCTGGCT	0.383000													54	98					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152553312	152553312	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152553312T>C	ENST00000367255.5	-	113	21402	c.20801A>G	c.(20800-20802)gAa>gGa	p.E6934G	SYNE1_ENST00000341594.5_Missense_Mutation_p.E6546G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6934G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1458G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6863G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6934					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATATTATCTTCATCCTTCTG	0.318000										HNSCC(10;0.0054)			15	85					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176752029	176752029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:176752029C>A	ENST00000430069.1	-	13	1466	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.G403*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	403					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCCCTGGTCCTGTTGGACTC	0.328000													8	50					0.00307968	0.00325696	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359629	118359629	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118359629C>T	ENST00000528052.1	+	9	956	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PNLIPRP1_ENST00000358834.4_Silent_p.P295P|PNLIPRP1_ENST00000534537.1_Silent_p.P295P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	295					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P295P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCCTCAATCCCGATGGGTTTG	0.488000													41	66					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38135552	38135552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38135552C>A	ENST00000351218.2	-	4	652	c.95G>T	c.(94-96)aGa>aTa	p.R32I	ZFP30_ENST00000514101.2_Missense_Mutation_p.R32I|ZFP30_ENST00000392144.1_Missense_Mutation_p.R32I|ZFP30_ENST00000589018.1_Missense_Mutation_p.R32I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATCTCTGTACAAATT	0.403000													6	90					0.00116845	0.00124821	1	1	0
IL1R2	7850	broad.mit.edu	37	2	102626164	102626164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626164C>T	ENST00000332549.3	+	3	437	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	IL1R2_ENST00000393414.2_Missense_Mutation_p.H70Y|IL1R2_ENST00000441002.1_Missense_Mutation_p.H70Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	70	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CCTGACATGGCATAAAAATGA	0.617000													89	130					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86394888	86394888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394888G>A	ENST00000361669.2	+	2	1526	c.427G>A	c.(427-429)Gca>Aca	p.A143T	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A141T|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A143T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	143					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTTCTCATTGCAGGGGTCAT	0.428000													8	110					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291271	12291271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12291271G>T	ENST00000261349.4	-	16	3671	c.3595C>A	c.(3595-3597)Ctt>Att	p.L1199I	LRP6_ENST00000543091.1_Missense_Mutation_p.L1199I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1199	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATTCTTGAAGGTTCAGCTCC	0.353000													11	142					9.05144e-12	1.1316e-11	1	1	0
TEX15	56154	broad.mit.edu	37	8	30700227	30700227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30700227C>T	ENST00000256246.2	-	1	6381	c.6307G>A	c.(6307-6309)Gtt>Att	p.V2103I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2103										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGCACTGAACCAGCTCAGGA	0.358000													16	48					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999227	46999227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999227C>T	ENST00000374314.4	+	1	1302	c.347C>T	c.(346-348)gCt>gTt	p.A116V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A116V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	116										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGTGCTGCTGCTATGCAGAGG	0.647000													4	16					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145527702	145527702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145527702C>T	ENST00000369304.3	+	2	317	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	ITGA10_ENST00000538811.1_Silent_p.N22N|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	48					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCTTACAACATGTTGGGGG	0.537000													41	39					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73064107	73064107	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064107C>T	ENST00000429829.1	-	0	8481					NR_001564.2																						TGATTACATACATTAATGTCC	0.383000													22	180					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18919457	18919457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18919457G>A	ENST00000284878.7	+	2	904	c.156G>A	c.(154-156)ccG>ccA	p.P52P	CXADR_ENST00000356275.6_Silent_p.P52P|CXADR_ENST00000400166.1_Silent_p.P52P|CXADR_ENST00000306618.10_Silent_p.P52P|CXADR_ENST00000400165.1_Silent_p.P52P|CXADR_ENST00000400169.1_Silent_p.P52P	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	52	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACCAGGGACCGCTGGACATCG	0.468000													35	31					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685311	241685311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241685311C>T	ENST00000498729.2	-	31	3464	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	KIF1A_ENST00000320389.7_Missense_Mutation_p.G972D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	972					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGAGGAGGCCTTCTGGGGG	0.632000													12	9					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94915538	94915538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915538C>A	ENST00000289495.5	+	16	3612	c.3396C>A	c.(3394-3396)gaC>gaA	p.D1132E	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D926E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1210E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D926E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	926						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAATGATGACTTCAGTCCCA	0.453000										HNSCC(28;0.073)			27	17					6.32553e-13	7.99037e-13	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51031993	51031993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51031993C>A	ENST00000261854.5	-	6	891	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	206						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTCATTTCTCTATCTTCAGT	0.318000													5	29					0.014758	0.0152625	1	1	0
HLCS	3141	broad.mit.edu	37	21	38309032	38309032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309032G>A	ENST00000399120.1	-	5	1943	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_ENST00000336648.3_Missense_Mutation_p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	238					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.S238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532000													22	27					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615383	1615383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1615383T>C	ENST00000262965.5	-	18	2067	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V	TCF3_ENST00000395423.3_Missense_Mutation_p.M579V|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	575	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGGCACATGCGCCCCAGC	0.632000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								5	102					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13008660	13008660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13008660C>T	ENST00000222214.5	+	11	1437	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	GCDH_ENST00000422947.2_Missense_Mutation_p.A365V|GCDH_ENST00000591470.1_Missense_Mutation_p.A409V|GCDH_ENST00000457854.1_Missense_Mutation_p.A409V			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	409					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AACCTGGAGGCCGTGAACACC	0.632000													12	27					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18258281	18258281	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18258281T>C	ENST00000397239.3	-	4	707	c.260A>G	c.(259-261)aAa>aGa	p.K87R	DEK_ENST00000244776.7_Missense_Mutation_p.K53R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	87					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCACAAAGTTTCTGCCCCTT	0.318000			T	NUP214	AML								4	38					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10550152	10550152	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10550152C>A	ENST00000322897.6	+	12	943	c.874C>A	c.(874-876)Cct>Act	p.P292T	NAPG_ENST00000542979.1_Missense_Mutation_p.P210T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	292					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACAGGCCAAGCCTGATGGTGT	0.478000													9	16					1.12685e-05	1.27857e-05	1	1	0
SLC6A20	54716	broad.mit.edu	37	3	45801444	45801444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45801444C>T	ENST00000358525.4	-	10	1649	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475I|SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	512					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537000													39	62					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839193	24839193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839193G>A	ENST00000413692.2	+	3	922	c.778G>A	c.(778-780)Gag>Aag	p.E260K	NFATC4_ENST00000422617.3_Missense_Mutation_p.E185K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E127K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E260K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E210K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E210K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E210K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.E229K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E197K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E197K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E229K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E127K|NFATC4_ENST00000250373.4_Missense_Mutation_p.E197K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E127K|NFATC4_ENST00000555453.1_Missense_Mutation_p.E185K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E185K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E229K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E127K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	197	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGCGACGAGGTGGAGTC	0.682000													15	19					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56401697	56401697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56401697C>T	ENST00000370754.5	-	62	16556	c.16557G>A	c.(16555-16557)caG>caA	p.Q5519Q	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Q5341Q|DST_ENST00000421834.2_Silent_p.Q3253Q|DST_ENST00000370788.2_Silent_p.Q3253Q|DST_ENST00000244364.6_Silent_p.Q2927Q|DST_ENST00000361203.3_Silent_p.Q5339Q|DST_ENST00000446842.2_Silent_p.Q5015Q|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5339					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATCTTGCTGTTTACCTT	0.408000													30	38					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840818	1840818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840818C>T	ENST00000331238.5	-	2	316	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	100					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCAGGTGCACGAAGCCCTCG	0.647000													10	20					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442723	138442723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:138442723C>T	ENST00000344876.4	-	4	3254	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_ENST00000507846.1_Silent_p.T735T|PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000511115.1_Silent_p.T136T|PCDH18_ENST00000510305.1_Silent_p.T167T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	956	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T956T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517000													33	86					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111989719	111989719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111989719C>T	ENST00000235090.5	-	4	697	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	164					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATACTCACCTCGGTATGAACT	0.398000													34	86					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641410	141641410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141641410G>A	ENST00000389484.3	-	25	5116	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1382					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCAATGGCCCTGGGGTG	0.383000										TSP Lung(27;0.18)			40	73					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170002337	170002337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170002337C>A	ENST00000295797.4	+	12	1461	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	386	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAATGTATTACTGGACTCTGA	0.338000													6	63					0.00116845	0.00124821	1	1	0
DPF3	8110	broad.mit.edu	37	14	73159848	73159848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73159848C>A	ENST00000541685.1	-	7	690	c.678G>T	c.(676-678)gaG>gaT	p.E226D	DPF3_ENST00000546183.1_Missense_Mutation_p.E236D|DPF3_ENST00000556509.1_Missense_Mutation_p.E226D|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	226					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCATCCCCCTCCTCGCTGG	0.552000													6	97					8.12818e-05	8.99451e-05	1	1	0
ATP13A2	23400	broad.mit.edu	37	1	17322537	17322537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17322537G>A	ENST00000452699.1	-	15	1650	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G487G|ATP13A2_ENST00000326735.8_Silent_p.G492G	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	492					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGAAAATGCCCTGTCTCC	0.657000													5	74					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11961975	11961975	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11961975G>T	ENST00000339865.5	+	18	2752		c.e18-1		USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000399455.2_Splice_Site	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCATTATAGGCCATCCATT	0.368000													4	70					0.00909568	0.00947522	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389691	20389691	+	Missense_Mutation	SNP	G	G	A	rs140004714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389691G>A	ENST00000315915.4	+	1	951	c.926G>A	c.(925-927)aGg>aAg	p.R309K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAGGCCAAGGAGAATTTCT	0.373000													31	98					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695537	99695537	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695537C>A	ENST00000303887.5	-	8	1550	c.905G>T	c.(904-906)cGg>cTg	p.R302L	MCM7_ENST00000354230.3_Missense_Mutation_p.R126L|MCM7_ENST00000343023.6_Missense_Mutation_p.R302L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	302					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTCACAATCCGATGGGCTTC	0.522000													6	78					0.248553	0.25002	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158449920	158449920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158449920G>A	ENST00000355585.4	+	3	422	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SYNJ2_ENST00000449859.2_Missense_Mutation_p.R65H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R116H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R116H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	116							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGAGGAACGCCTCATAGCT	0.507000													23	26					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35807348	35807348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35807348C>A	ENST00000342694.2	+	18	2920	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	889	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTAATGACCTGTATACCTG	0.428000													58	126					3.30712e-30	4.43e-30	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47517672	47517672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47517672C>A	ENST00000273859.3	+	3	739	c.470C>A	c.(469-471)aCt>aAt	p.T157N	ATP10D_ENST00000504445.1_Missense_Mutation_p.T157N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	157					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTAATAACTAAAGTTTAT	0.338000													15	39					2.23348e-06	2.57349e-06	1	1	0
NAA35	60560	broad.mit.edu	37	9	88590033	88590033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88590033G>A	ENST00000361671.5	+	8	721	c.588G>A	c.(586-588)atG>atA	p.M196I	NAA35_ENST00000376040.1_Missense_Mutation_p.M196I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	196					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTCTAGGCATGCTAAAAGATG	0.299000													7	75					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29587487	29587487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29587487C>T	ENST00000358273.4	+	34	4914	c.4531C>T	c.(4531-4533)Ctc>Ttc	p.L1511F	NF1_ENST00000356175.3_Missense_Mutation_p.L1490F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1511					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATCGTCTACTCTGGAACAA	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			59	100					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153176003	153176003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153176003G>A	ENST00000370028.3	-	17	2056	c.1999C>T	c.(1999-2001)Ccg>Tcg	p.P667S	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P627S|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P604S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P606S|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P449S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	627	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGCACCGGCGCGGGCAGC	0.706000													7	10					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490623	71490623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71490623G>A	ENST00000296755.7	+	5	1739	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCAAACCCTGCGGAGAAAAT	0.463000													9	83					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023646	18023646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18023646G>A	ENST00000361221.3	+	29	3770	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S977N|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S907N	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGGAGCACAGCGAGGAGGAC	0.687000													13	9					0	0	1	0	0
SYNE4	163183	broad.mit.edu	37	19	36499482	36499482	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36499482G>A	ENST00000324444.3	-	1	213	c.102C>T	c.(100-102)tgC>tgT	p.C34C	SYNE4_ENST00000340477.5_Silent_p.C34C	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		CGGACGCGGGGCAGACGGTGC	0.657000													36	39					0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139694780	139694780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139694780G>A	ENST00000367651.2	-	2	517	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CITED2_ENST00000536159.1_Missense_Mutation_p.P101L|CITED2_ENST00000537332.1_Missense_Mutation_p.P101L	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	101					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GGCCACCGGGGGACCCATGAA	0.657000													16	19					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73231231	73231231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73231231C>T	ENST00000245544.4	+	18	1875	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	NUP85_ENST00000579324.1_Missense_Mutation_p.R490W|NUP85_ENST00000579298.1_Missense_Mutation_p.R557W|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.R205W|NUP85_ENST00000541827.1_Missense_Mutation_p.R556W	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	602					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAGTTGATGCGGTGTCTGGA	0.537000													15	26					0	0	1	0	0
IRAK3	0	broad.mit.edu	37	12	66641635	66641635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641635C>T	ENST00000261233.4	+	12	1896	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S431F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	492					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTACTACCTTCTGATGAAGGC	0.428000													7	84					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123812039	123812039	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123812039G>T	ENST00000420886.2	-	12	1625	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	SBNO1_ENST00000267176.4_Silent_p.T541T|SBNO1_ENST00000602750.1_Silent_p.T541T|SBNO1_ENST00000602398.1_Silent_p.T542T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	542							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTTTGAAGGTCACTCCAG	0.363000													16	38					0.000422831	0.000460248	1	1	0
TKT	7086	broad.mit.edu	37	3	53274267	53274267	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53274267C>A	ENST00000462138.1	-	4	525	c.437_splice	c.e4+1	p.S146_splice	TKT_ENST00000423525.2_Splice_Site_p.S146_splice|TKT_ENST00000296289.6_Splice_Site_p.S99_splice|TKT_ENST00000423516.1_Splice_Site_p.S146_splice			P29401	TKT_HUMAN	transketolase	146					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTGTGTTACCTGGCCTTGTC	0.612000													20	37					0.000958276	0.00103117	1	1	0
HECTD2	143279	broad.mit.edu	37	10	93260258	93260258	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260258G>T	ENST00000446394.1	+	20	2062		c.e20-1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTATTGGCAGCTGCTTCGTC	0.363000													4	40					0.00909568	0.00947522	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114874116	114874116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114874116G>A	ENST00000374270.3	-	8	1161	c.989C>T	c.(988-990)tCc>tTc	p.S330F	SUSD1_ENST00000374264.2_Missense_Mutation_p.S330F|SUSD1_ENST00000374263.3_Missense_Mutation_p.S330F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	330						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTTTATGGATATCTTTGA	0.468000													7	36					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28009965	28009965	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28009965T>C	ENST00000381116.1	-	7	918	c.684A>G	c.(682-684)caA>caG	p.Q228Q	MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.Q228Q|MTIF3_ENST00000405591.2_Silent_p.Q228Q|MTIF3_ENST00000431572.2_Silent_p.Q228Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	228					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTTGAACAGCTTGTGGCCTAG	0.383000													13	100					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851604	47851604	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851604G>A	ENST00000359568.5	+	38	8333	c.8226G>A	c.(8224-8226)gaG>gaA	p.E2742E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2742					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTCTCTGAGCTCCAGAAGG	0.642000													5	19					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884244	64884244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64884244C>T	ENST00000310597.4	-	1	926	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	294							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTCGCCCAGCAGGATGCGGG	0.706000													5	45					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193506	62193506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62193506G>A	ENST00000467148.1	-	10	6517	c.6448C>T	c.(6448-6450)Cgc>Tgc	p.R2150C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1581C	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGCTTGTGGCGGCCTCCGGGG	0.672000													7	8					0	0	1	0	0
CACUL1	143384	broad.mit.edu	37	10	120450775	120450775	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120450775G>A	ENST00000369151.3	-	7	1509		c.e7+1		CACUL1_ENST00000544392.1_Splice_Site	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		AAAACAACTTGCCTTGTAAAA	0.408000													61	112					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64152887	64152887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64152887C>A	ENST00000247225.6	-	3	1356	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	421						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCAACCATTCCATAGGTAAT	0.343000													19	34					2.94398e-08	3.51695e-08	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101383909	101383909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383909G>A	ENST00000312938.4	-	4	2102	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGTTGTCGAAGCCTGCTT	0.428000													64	124					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14863291	14863291	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14863291T>G	ENST00000398334.1	-	8	1881	c.1614A>C	c.(1612-1614)ccA>ccC	p.P538P	FANCB_ENST00000324138.3_Silent_p.P538P	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	538					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCATCAAGTATGGTGCTGGGA	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				58	103					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506809	155506809	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155506809C>A	ENST00000302053.3	-	5	1850	c.1772G>T	c.(1771-1773)aGa>aTa	p.R591I	FGA_ENST00000403106.3_Missense_Mutation_p.R591I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	591					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453000													44	65					3.4345e-17	4.4498e-17	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240370352C>A	ENST00000319653.9	+	5	2470	c.2240C>A	c.(2239-2241)tCc>tAc	p.S747Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000													6	21					0.00116845	0.00124821	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50189040	50189040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50189040G>A	ENST00000335999.6	-	8	2804	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	864	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTGGGTCAGTGGGGCCAGG	0.642000													20	112					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59307811	59307811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59307811G>A	ENST00000320743.3	-	3	621	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRIG3_ENST00000379141.4_Missense_Mutation_p.T52I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	112						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTTGGAATGGTCTCCAATTC	0.363000			T	ROS1	NSCLC								29	34					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19974983	19974983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19974983G>T	ENST00000295824.9	-	1	689	c.528C>A	c.(526-528)acC>acA	p.T176T	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	176					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTAAAACACAGGTAGACTCTT	0.483000													5	106					3.59834e-05	4.01776e-05	1	1	0
PIH1D1	55011	broad.mit.edu	37	19	49951093	49951093	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49951093G>A	ENST00000262265.5	-	5	707	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PIH1D1_ENST00000596049.1_Silent_p.L158L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	158					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCGGATTCAGCTGCAAGTTG	0.612000													38	78					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98564774	98564774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98564774C>T	ENST00000359863.4	+	49	7475	c.7266C>T	c.(7264-7266)aaC>aaT	p.N2422N	TRRAP_ENST00000355540.3_Silent_p.N2404N|TRRAP_ENST00000446306.3_Silent_p.N2404N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2422					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTTGTTAACTATGTCTACA	0.393000													14	110					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154541987	154541987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154541987G>A	ENST00000409959.3	+	27	3696	c.3647G>A	c.(3646-3648)cGa>cAa	p.R1216Q	KIAA0922_ENST00000409663.3_Missense_Mutation_p.R1215Q|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1132Q	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1215						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGTAAAAGTCGAACATGTAGA	0.308000													36	59					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156819161	156819161	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156819161A>G	ENST00000368195.3	-	6	1717	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	441					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGCGAAGTAGATCTTGCCC	0.607000													10	123					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111408165	111408165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111408165C>A	ENST00000535254.1	-	17	2168	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	BUB1_ENST00000302759.6_Nonsense_Mutation_p.E721*|BUB1_ENST00000409311.1_Nonsense_Mutation_p.E721*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	721					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCATCCATTCTGCTTGGAGC	0.512000													8	29					0.0381472	0.0390147	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152646334	152646334	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152646334A>G	ENST00000367255.5	-	81	16143	c.15542T>C	c.(15541-15543)cTg>cCg	p.L5181P	SYNE1_ENST00000341594.5_Missense_Mutation_p.L4874P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5181P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5110P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5181					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACCTGCTCAGGGTGGCTTT	0.527000										HNSCC(10;0.0054)			14	185					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57595294	57595294	+	Missense_Mutation	SNP	G	G	A	rs149436792		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57595294G>A	ENST00000243077.3	+	66	10826	c.10360G>A	c.(10360-10362)Gcc>Acc	p.A3454T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3454	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.A3454T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGACCTGCGCCCCCAACCA	0.607000													18	17					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410256	63410256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410256C>T	ENST00000330258.3	-	2	3183	c.2911G>A	c.(2911-2913)Ggt>Agt	p.G971S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CAGGCAGGACCTGGCCCCACT	0.567000													6	12					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056724	44056724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44056724C>T	ENST00000359947.4	+	9	1371	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	PTPRF_ENST00000438120.1_Missense_Mutation_p.S344L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S344L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S344L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	344	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTGGGAACTCGGAGCCTGTA	0.592000													12	148					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224340896	224340896	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224340896C>A	ENST00000366862.5	+	4	612	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	190										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACCAGAGCCCCTCAACGAGCT	0.318000													25	93					6.32553e-13	7.99037e-13	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56995055	56995055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56995055C>T	ENST00000179765.5	-	22	4312	c.4113G>A	c.(4111-4113)caG>caA	p.Q1371Q	BAZ2A_ENST00000549884.1_Silent_p.Q1401Q|BAZ2A_ENST00000379441.3_Silent_p.Q1373Q|BAZ2A_ENST00000551812.1_Silent_p.Q1403Q|BAZ2A_ENST00000553222.1_5'UTR			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1403	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCGTTTGGGCTGTCCCAGCC	0.592000													16	22					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366678	21366678	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366678C>A	ENST00000311048.7	+	5	1716	c.1572C>A	c.(1570-1572)tcC>tcA	p.S524S	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCAATCCTCAACTCTTA	0.328000													20	36					1.64113e-05	1.85146e-05	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117094831	117094831	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117094831G>A	ENST00000540028.1	-	0	53				PCSK7_ENST00000320934.3_Silent_p.Y339Y			Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGTAGCCATCGTAGTTGCAGT	0.542000			T	IGH@	MLCLS								4	51					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110919640	110919640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110919640G>T	ENST00000369779.4	-	7	1423	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	SLC16A4_ENST00000541986.1_Missense_Mutation_p.L330I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L224I|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L344I|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L282I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	392						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TAGGTCATAAGTAGTGGAAAT	0.433000													18	41					1.78486e-19	2.33646e-19	1	1	0
ETNPPL	64850	broad.mit.edu	37	4	109681035	109681035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109681035C>A	ENST00000296486.3	-	3	359	c.205G>T	c.(205-207)Gct>Tct	p.A69S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.A29S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A11S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A63S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TTCAGGGCAGCTTTGACCACT	0.423000													12	28					9.16793e-09	1.10245e-08	1	1	0
CD34	947	broad.mit.edu	37	1	208063122	208063122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208063122G>A	ENST00000367036.3	-	1	715	c.61C>T	c.(61-63)Cag>Tag	p.Q21*	CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_Intron|CD34_ENST00000310833.7_Intron|CD34_ENST00000356522.4_Intron			P28906	CD34_HUMAN	CD34 molecule	0					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGCTAACTGTATATGTGCA	0.348000													5	9					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48016412	48016412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48016412C>T	ENST00000258774.5	-	4	403	c.380G>A	c.(379-381)cGc>cAc	p.R127H	HUS1_ENST00000432325.1_Missense_Mutation_p.R106H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	127					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGTCACAATGCGGCTACTGCT	0.418000								Direct reversal of damage;Other conserved DNA damage response genes					9	148					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235827839	235827839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235827839G>A	ENST00000389794.3	-	51	11295	c.11121C>T	c.(11119-11121)tcC>tcT	p.S3707S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3707S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3707					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGCCACGGAACAGATGA	0.478000													32	34					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75761231	75761231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75761231C>A	ENST00000306726.2	-	13	2173	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	554	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGAAGGCCCTCTGGGTCCT	0.552000													7	42					8.12818e-05	8.99451e-05	1	1	0
AVPR2	0	broad.mit.edu	37	X	153171513	153171513	+	Missense_Mutation	SNP	G	G	T	rs104894748		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171513G>T	ENST00000358927.2	+	3	762	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	AVPR2_ENST00000370049.1_Missense_Mutation_p.G185C|AVPR2_ENST00000337474.5_Missense_Mutation_p.G185C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	185			G -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAACGTGGAAGGTGGCAGCGG	0.642000													5	43					1.23904e-05	1.39987e-05	1	1	0
RPS4X	6191	broad.mit.edu	37	X	71494903	71494903	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71494903C>A	ENST00000316084.6	-	4	464	c.360_splice	c.e4+1	p.K120_splice	RPS4X_ENST00000373626.3_Splice_Site_p.K120_splice|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	120					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CCACACTCACCTTGGCCTCCT	0.478000													9	14					2.17888e-05	2.45068e-05	1	1	0
GHR	2690	broad.mit.edu	37	5	42711316	42711316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42711316C>A	ENST00000230882.4	+	7	816	c.626C>A	c.(625-627)cCt>cAt	p.P209H	GHR_ENST00000357703.3_Missense_Mutation_p.P187H|GHR_ENST00000537449.1_Missense_Mutation_p.P22H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	209	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGATGGACCCTATATTGACA	0.378000													9	109					4.68919e-08	5.58064e-08	1	1	0
ZNF438	220929	broad.mit.edu	37	10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31137485G>A	ENST00000538351.1	-	7	2456	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.R607*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.R617*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R617*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R181*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R607*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R607*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498000													10	27					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607350	21607350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21607350A>G	ENST00000392288.2	+	4	1998	c.1889A>G	c.(1888-1890)aAa>aGa	p.K630R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K502R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACCCTACAAATGTGAAGAA	0.388000													9	17					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77750753	77750753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77750753G>A	ENST00000381714.3	+	3	432	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	HMG20A_ENST00000336216.4_Missense_Mutation_p.E2K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	2					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGAGATGGAAAACTTGAT	0.403000													7	43					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90960053	90960053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90960053G>A	ENST00000265433.3	-	12	2067	c.1914_splice	c.e12+1	p.S638_splice	NBN_ENST00000409330.1_Splice_Site_p.S556_splice	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	638					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTCACAGATATTTCTTT	0.303000								Homologous recombination					6	9					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266665	68266665	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68266665A>G	ENST00000473183.2	-	6	1247	c.710_splice	c.e6+1	p.C237_splice	ESRP2_ENST00000565858.1_Splice_Site_p.C237_splice			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	237					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACACTCACCAAGGCCCCGTC	0.577000													43	96					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897696	75897696	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897696T>A	ENST00000229214.4	-	7	842	c.819A>T	c.(817-819)caA>caT	p.Q273H	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	273	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GACTTTCTGGTTGTGGTGGTG	0.338000													8	204					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395629	74395629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74395629G>A	ENST00000319380.7	-	9	1593	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	510							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTGCGACTCGTGCCGCTGCC	0.547000													9	86					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112097052	112097052	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112097052G>T	ENST00000403825.3	+	4	629	c.368G>T	c.(367-369)aGa>aTa	p.R123I	IFRD1_ENST00000535603.1_Missense_Mutation_p.R73I|IFRD1_ENST00000005558.4_Missense_Mutation_p.R123I|IFRD1_ENST00000429071.1_Missense_Mutation_p.R123I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	123					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CTGGAAAGGAGAATGACTTTA	0.373000													4	86					0.000602214	0.000649039	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94059628	94059628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94059628C>A	ENST00000297268.6	+	52	4495	c.4024C>A	c.(4024-4026)Ctt>Att	p.L1342I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCCCTTCCTTGATATTGC	0.363000										HNSCC(75;0.22)			79	180					1.75807e-36	2.36626e-36	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366786	248366786	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248366786A>C	ENST00000456743.1	+	1	455	c.417A>C	c.(415-417)aaA>aaC	p.K139N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGCCCTAAAATTTGTGGAC	0.468000													36	264					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877605	56877605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877605G>T	ENST00000257287.4	+	20	2657	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	845					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCAGCAGTGCAAGAAAA	0.308000													13	33					0.0202918	0.0209785	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115130424	115130424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115130424C>T	ENST00000393274.1	-	19	3206	c.2581G>A	c.(2581-2583)Gta>Ata	p.V861I	DENND2C_ENST00000393276.3_Missense_Mutation_p.V804I|DENND2C_ENST00000393277.1_Missense_Mutation_p.V749I|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	861	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGGCGTACACTTCGGGAG	0.478000													19	50					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794000	30794000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794000C>T	ENST00000262525.4	-	3	1856	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCCAGCAGGCTGTCGCCCTG	0.692000													4	3					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573838	153573838	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153573838T>A	ENST00000304385.3	-	2	537	c.306A>T	c.(304-306)aaA>aaT	p.K102N	TMEM154_ENST00000504064.1_Missense_Mutation_p.K102N	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	102						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCTTTTTCTTTTATAGTATG	0.303000													4	48					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48369778	48369778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48369778C>A	ENST00000367574.4	+	3	524	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	PORCN_ENST00000359882.4_Missense_Mutation_p.L78I|PORCN_ENST00000355092.3_Missense_Mutation_p.L78I|PORCN_ENST00000537758.1_Missense_Mutation_p.L78I|PORCN_ENST00000361988.3_Missense_Mutation_p.L78I|PORCN_ENST00000355961.4_Missense_Mutation_p.L78I|PORCN_ENST00000326194.6_Missense_Mutation_p.L78I			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	78					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCGTGCTGCTCAGCCTCCT	0.567000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	116					1.49906e-05	1.69169e-05	1	1	0
DOM3Z	0	broad.mit.edu	37	6	31938862	31938862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938862G>A	ENST00000375349.3	-	3	830	c.419C>T	c.(418-420)aCg>aTg	p.T140M	DOM3Z_ENST00000337523.5_Missense_Mutation_p.T140M|DOM3Z_ENST00000375356.3_Missense_Mutation_p.T140M|DOM3Z_ENST00000478221.1_5'UTR			O77932	DOM3Z_HUMAN		140							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATACGGTGTCGTCAGCAGTTT	0.622000													17	44					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244542	41244542	+	Missense_Mutation	SNP	G	G	T	rs80357601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244542G>T	ENST00000309486.4	-	9	3145	c.2118C>A	c.(2116-2118)aaC>aaA	p.N706K	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1002K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000357654.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N955K|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1002					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTCAAAGTTTTCCTCTA	0.333000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			64	77					1.31171e-36	1.76586e-36	1	1	0
ACKR3	57007	broad.mit.edu	37	2	237490082	237490082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237490082A>G	ENST00000272928.3	+	2	1284	c.974A>G	c.(973-975)gAg>gGg	p.E325G		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TACAGGTACGAGCTGATGAAG	0.557000													6	37					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043629	35043629	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35043629G>T	ENST00000312292.5	+	2	1050	c.1003G>T	c.(1003-1005)Gct>Tct	p.A335S	C9orf131_ENST00000421362.2_Missense_Mutation_p.A287S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A262S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	335										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATGCCCCAAGCTTTTGAGCC	0.532000													89	194					5.21634e-54	7.05771e-54	1	1	0
RCBTB2	1102	broad.mit.edu	37	13	49070385	49070385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49070385C>T	ENST00000344532.3	-	14	1880	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	RCBTB2_ENST00000544492.1_Missense_Mutation_p.G212D|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G491D	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	486							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CTCGCAGATGCCTTGCTTGAT	0.493000													25	48					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397687	139397687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397687G>A	ENST00000277541.6	-	27	5189	c.5114C>T	c.(5113-5115)gCg>gTg	p.A1705V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1705					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGCGAGCGCTCCCAGGAA	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	26					0	0	1	0	0
SGCB	6443	broad.mit.edu	37	4	52895891	52895891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52895891C>A	ENST00000381431.5	-	3	604	c.382G>T	c.(382-384)Gga>Tga	p.G128*	SGCB_ENST00000535450.1_Nonsense_Mutation_p.G58*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	128	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTTCCTCCTACTGTGCTT	0.428000													31	40					9.65021e-13	1.21719e-12	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41839368	41839368	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41839368C>A	ENST00000396930.3	-	5	1357	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	KAT6A_ENST00000406337.1_Missense_Mutation_p.G272C|KAT6A_ENST00000265713.2_Missense_Mutation_p.G272C|KAT6A_ENST00000485568.1_Missense_Mutation_p.G272C	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	272					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G272S(1)									GCATTTTTGCCTTGATCTCGA	0.423000													4	29					1.024e-07	1.214e-07	1	1	0
MED13L	23389	broad.mit.edu	37	12	116421083	116421083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116421083C>A	ENST00000281928.3	-	21	5000	c.4794G>T	c.(4792-4794)caG>caT	p.Q1598H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1598	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTGCTTATCTGGCTAATAC	0.517000													5	36					0.184627	0.186383	1	1	0
ZNF786	136051	broad.mit.edu	37	7	148768026	148768026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768026C>T	ENST00000316286.9	-	3	1852	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ZNF786_ENST00000491431.1_Missense_Mutation_p.R613H|ZNF786_ENST00000451334.3_Missense_Mutation_p.R576H			Q8N393	ZN786_HUMAN	zinc finger protein 786	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGTGCAGGCGCTGATGGCT	0.657000													12	37					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070389	114070389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:114070389A>G	ENST00000462705.1	-	11	1138	c.317T>C	c.(316-318)aTc>aCc	p.I106T	ZBTB20_ENST00000393785.2_Missense_Mutation_p.I106T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.I179T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.I106T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I106T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	179	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATCTGCAGGATGCTGGCGGC	0.597000													5	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640599	179640599	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640599G>A	ENST00000589042.1	-	28	6216	c.5992C>T	c.(5992-5994)Cgc>Tgc	p.R1998C	TTN_ENST00000460472.2_Missense_Mutation_p.R1952C|TTN_ENST00000360870.5_Missense_Mutation_p.R1998C|TTN_ENST00000342992.6_Missense_Mutation_p.R1998C|TTN_ENST00000359218.5_Missense_Mutation_p.R1952C|TTN_ENST00000342175.6_Missense_Mutation_p.R1952C|TTN_ENST00000591111.1_Missense_Mutation_p.R1998C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1748			R -> H.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTACTGCGCAGCTCTTCC	0.453000													56	107					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981023	61981023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981023G>A	ENST00000370263.4	-	5	1961	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	580					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTGTGTCTTCGGCCTTCAGGT	0.662000													28	51					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25569197	25569197	+	Splice_Site	SNP	C	C	A	rs149585550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25569197C>A	ENST00000243189.7	-	5	1033		c.e5-1		C1orf63_ENST00000417642.2_Splice_Site	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTACAGAATTCTGTAAAAGAA	0.338000													4	55					0.184627	0.186383	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78473133	78473133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78473133G>A	ENST00000258873.4	-	9	1422	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	ACSBG1_ENST00000560817.1_Missense_Mutation_p.S164L|ACSBG1_ENST00000541759.1_Missense_Mutation_p.S164L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	406					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAGGTCACCGACATGGCCCA	0.637000													20	44					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940569	59940569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59940569G>A	ENST00000420732.2	-	6	555	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MS4A6A_ENST00000528851.1_Silent_p.L195L|MS4A6A_ENST00000426738.2_Silent_p.L150L|MS4A6A_ENST00000530839.1_Silent_p.L195L|MS4A6A_ENST00000412309.2_Silent_p.L223L|MS4A6A_ENST00000323961.3_Silent_p.L195L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.A96V|MS4A6A_ENST00000529054.1_Silent_p.L223L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	0						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATTCCAGCAGAGTGCAA	0.498000													62	64					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301737	301737	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:301737G>A	ENST00000428720.1	-	15	2351	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	SLC6A12_ENST00000359674.4_Silent_p.Y536Y|SLC6A12_ENST00000536824.1_Silent_p.Y536Y|SLC6A12_ENST00000397296.2_Silent_p.Y536Y|SLC6A12_ENST00000424061.2_Silent_p.Y536Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	536					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCAATGGAGTATCCCCAGG	0.567000													23	44					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136412159	136412159	+	Splice_Site	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136412159G>C	ENST00000393061.3	+	9	1522		c.e9-1		ADAMTSL2_ENST00000354484.4_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site			Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCCCTTCCAGCTCTTGCAGA	0.587000													63	126					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	rs138729528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7578407G>A	ENST00000420246.2	-	5	655	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175C|TP53_ENST00000413465.2_Missense_Mutation_p.R175C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGGGGCAGCGCCTCACAACC	0.657000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	34					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372701	74372701	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74372701C>A	ENST00000429810.2	-	0	1495																											ACCTGGCTCCCTGTGCATCCA	0.488000													18	25					2.94398e-08	3.51695e-08	1	1	0
SPEN	23013	broad.mit.edu	37	1	16254739	16254739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16254739C>T	ENST00000375759.3	+	11	2208	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	668	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAGACTACTATGAATCAC	0.443000													11	109					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56555180	56555180	+	Missense_Mutation	SNP	G	G	A	rs112034060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56555180G>A	ENST00000549566.1	+	4	616	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MYL6_ENST00000548580.1_Missense_Mutation_p.R98H|MYL6_ENST00000348108.4_3'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R147H|MYL6_ENST00000550697.1_3'UTR|MYL6_ENST00000548400.1_3'UTR|MYL6_ENST00000549017.1_Missense_Mutation_p.R42H|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Missense_Mutation_p.R146H			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	146					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTCGTCCGCATGGTGCTG	0.552000													28	51					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11107011	11107011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11107011G>T	ENST00000358026.2	+	10	2000	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCA4_ENST00000590574.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K572N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K572N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	572					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGCACAAGGCTGCCCAGG	0.597000			"""F, N, Mis"""		NSCLC								5	73					1	1	1	1	0
FKTN	2218	broad.mit.edu	37	9	108382276	108382276	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108382276T>A	ENST00000223528.2	+	9	1230	c.1106T>A	c.(1105-1107)tTc>tAc	p.F369Y	FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.F369Y|FKTN_ENST00000448551.2_Missense_Mutation_p.F369Y|FKTN_ENST00000357998.5_Missense_Mutation_p.F369Y	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	369					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATGTTTTTTTCTTCTATGAA	0.353000													8	36					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640257	94640257	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94640257T>G	ENST00000260526.6	-	23	3136	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	985					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTCTATCTTTTGGGATGC	0.398000													62	144					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6068529	6068529	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6068529G>A	ENST00000217289.4	-	11	2054	c.1264_splice	c.e11-1	p.G422_splice	FERMT1_ENST00000536936.1_Splice_Site_p.G165_splice|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	422	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAACTTCGCAGCCTGAAGGAC	0.398000													33	56					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848938	99848938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99848938A>G	ENST00000373031.4	+	3	444	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGAAGAAGAAGATTTACATG	0.408000													28	65					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104492412	104492412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104492412C>A	ENST00000409874.4	+	27	3008	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.S987Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	987	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAATAAGTCTCATGTAGAT	0.393000													16	40					2.4624e-09	2.98951e-09	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32844567	32844567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844567C>A	ENST00000311921.3	+	2	1023	c.831C>A	c.(829-831)tcC>tcA	p.S277S	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Silent_p.S277S|ZNF507_ENST00000544431.1_Silent_p.S277S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGATTGCTCCTATCCAATCT	0.478000													6	90					3.59834e-05	4.01776e-05	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680537	18680537	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680537T>C	ENST00000380566.4	+	10	1377	c.1313T>C	c.(1312-1314)gTt>gCt	p.V438A	ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000380548.4_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1625	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTTTCTTTGTTCATTAGGAG	0.527000													15	33					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242454	102242454	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102242454T>G	ENST00000343737.5	+	6	1065	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	313					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAACTGCAAGTTCCACTGGTG	0.726000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21946038G>A	ENST00000406877.3	-	6	1069	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.Q230*|CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.Q218*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGTGATCTGTCCCTCCGAG	0.542000													44	145					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157688928	157688928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:157688928G>A	ENST00000502773.1	-	5	1408	c.918C>T	c.(916-918)caC>caT	p.H306H	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.H143H|PDGFC_ENST00000542208.1_Silent_p.H151H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	306					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACCTACCTCGTGGTATTTTT	0.383000													23	32					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979388	111979388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111979388G>A	ENST00000374566.3	-	16	1964	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	483						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCAACCGGTCCGAGCTG	0.567000													14	28					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16963025	16963025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16963025C>T	ENST00000318063.5	+	11	1231	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TATTCTTTTACGATATACAAA	0.308000													15	19					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158569913	158569913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158569913C>T	ENST00000367102.2	-	5	480	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SERAC1_ENST00000607000.1_Silent_p.L113L|SERAC1_ENST00000367104.3_Silent_p.L113L|SERAC1_ENST00000367101.1_Silent_p.L113L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGGATTCCGCAGTATCTTGG	0.338000													9	30					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862336	108862336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:108862336C>A	ENST00000356922.4	-	2	1553	c.1281G>T	c.(1279-1281)gaG>gaT	p.E427D	LIG4_ENST00000442234.1_Missense_Mutation_p.E427D|LIG4_ENST00000405925.1_Missense_Mutation_p.E427D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	427					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATAATTCCCTCTTCTCTTT	0.363000								Non-homologous end-joining					19	173					3.57192e-18	4.65187e-18	1	1	0
ADIRF	10974	broad.mit.edu	37	10	88728331	88728331	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88728331G>T	ENST00000372013.3	+	1	383	c.30G>T	c.(28-30)aaG>aaT	p.K10N	MMRN2_ENST00000418273.1_Intron	NM_006829.2	NP_006820.1			adipogenesis regulatory factor																		AGGACCTGAAGCAACAGGTGG	0.652000													12	9					1.08611e-07	1.2824e-07	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220498005	220498005	+	Silent	SNP	C	C	T	rs149397338	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220498005C>T	ENST00000358055.3	+	10	1799	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	SLC4A3_ENST00000373760.2_Silent_p.N429N|SLC4A3_ENST00000317151.3_Silent_p.N429N|SLC4A3_ENST00000273063.6_Silent_p.N456N|SLC4A3_ENST00000373762.3_Silent_p.N456N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	429					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATCCCAACGATGACAAGG	0.582000													27	44					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24952138	24952138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24952138C>T	ENST00000217456.2	-	5	786	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	APMAP_ENST00000447138.1_Missense_Mutation_p.A166T	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TATGCATCGGCCACAAAGAGA	0.433000													22	41					0	0	1	0	0
AC022532.1	0	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72195499G>T	ENST00000420338.2	+	1	915	c.446G>T	c.(445-447)gGt>gTt	p.G149V	NODAL_ENST00000287139.3_Missense_Mutation_p.T145N																							CAAGGAAAAGGTGACCTGGGA	0.557000													12	29					2.31682e-05	2.60394e-05	1	1	0
OR2T11	127077	broad.mit.edu	37	1	248789941	248789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789941G>A	ENST00000330803.2	-	1	550	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGTAAGGGACATTCATGG	0.512000													6	74					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90473240	90473240	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90473240A>C	ENST00000340281.4	+	5	689	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ZNF326_ENST00000370447.2_Missense_Mutation_p.E93D|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	182	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTATCCTGAAAGTACGTTTG	0.478000													39	38					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129272657	129272657	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129272657A>G	ENST00000287295.3	-	9	1108	c.878T>C	c.(877-879)tTg>tCg	p.L293S	AIFM1_ENST00000319908.3_Missense_Mutation_p.L289S|AIFM1_ENST00000535724.1_Missense_Mutation_p.L206S|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	293	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AATCTTCTCCAAGCTTCTAAA	0.413000													3	80					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643819	7643819	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7643819G>T	ENST00000572933.1	+	10	2918	c.1458G>T	c.(1456-1458)ccG>ccT	p.P486P	DNAH2_ENST00000570791.1_Silent_p.P568P|DNAH2_ENST00000389173.2_Silent_p.P486P|DNAH2_ENST00000082259.3_Silent_p.P568P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	486	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGACGTGCCGCACGGCGTGC	0.662000													35	87					6.97489e-18	9.07097e-18	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34310638	34310638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34310638G>T	ENST00000257209.4	+	17	3044	c.2922G>T	c.(2920-2922)gaG>gaT	p.E974D	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.E957D|FHOD3_ENST00000591635.1_Missense_Mutation_p.E170D|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1149D|FHOD3_ENST00000445677.1_Missense_Mutation_p.E936D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGGCAAGAGATCATTGTTC	0.398000													28	88					1.36615e-20	1.79416e-20	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853649	2853649	+	Missense_Mutation	SNP	C	C	T	rs146806424	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853649C>T	ENST00000334241.4	+	4	1724	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	ZNF555_ENST00000591539.1_Missense_Mutation_p.T528M|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTGAGAACGCACACTGTA	0.418000													33	46					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105893480	105893480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105893480G>T	ENST00000222553.3	-	10	1655	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	450					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398000													26	103					8.24728e-16	1.06091e-15	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28419932	28419932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28419932G>T	ENST00000394835.3	+	22	4491	c.4299G>T	c.(4297-4299)caG>caT	p.Q1433H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q1309H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1433							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAATGTACAGCTTATTGATG	0.313000													12	82					1.52009e-12	1.91418e-12	1	1	0
RABL6	55684	broad.mit.edu	37	9	139722960	139722960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139722960C>T	ENST00000371663.4	+	4	603	c.328C>T	c.(328-330)Cga>Tga	p.R110*	RABL6_ENST00000357466.2_Nonsense_Mutation_p.R110*|RABL6_ENST00000371671.4_Nonsense_Mutation_p.R110*|RABL6_ENST00000311502.7_Nonsense_Mutation_p.R110*|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Nonsense_Mutation_p.R72*|RABL6_ENST00000371675.3_5'UTR	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		ATGCAAAAAGCGAGGCGACGG	0.572000													16	20					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593308	47593308	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47593308C>A	ENST00000273859.3	+	23	4460	c.4191C>A	c.(4189-4191)aaC>aaA	p.N1397K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1397					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAAGGAAACTTATCTCTGT	0.463000													42	136					5.34276e-22	7.04553e-22	1	1	0
LYST	1130	broad.mit.edu	37	1	235926125	235926125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235926125G>A	ENST00000389794.3	-	22	6322	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2050					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2050W(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATTGACCGCACTTTCTCC	0.373000													18	36					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176148	112176148	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112176148A>G	ENST00000457016.1	+	16	5237	c.4857A>G	c.(4855-4857)ccA>ccG	p.P1619P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1619P|APC_ENST00000508376.2_Silent_p.P1619P			P25054	APC_HUMAN	adenomatous polyposis coli	1619	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACTTCTACCATCACAAAACA	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	176					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097933	43097933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43097933G>T	ENST00000244336.5	-	2	285	c.184C>A	c.(184-186)Cct>Act	p.P62T	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	62	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TAGCCACGAGGGTCCTGGGGC	0.507000													56	81					8.52622e-23	1.12644e-22	1	1	0
SNHG14	0	broad.mit.edu	37	15	25477562	25477562	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25477562C>A	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						TTATAATGTTCTGAAGAGAGG	0.507000													18	248					2.4624e-09	2.98951e-09	1	1	0
EQTN	54586	broad.mit.edu	37	9	27284734	27284734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27284734G>A	ENST00000380032.3	-	8	955	c.872C>T	c.(871-873)tCg>tTg	p.S291L	EQTN_ENST00000537675.1_Missense_Mutation_p.S262L	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		CCGGGTAACCGACTCATCGTT	0.348000													7	62					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8136314	8136314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8136314C>A	ENST00000315684.8	-	11	1862	c.1855G>T	c.(1855-1857)Ggt>Tgt	p.G619C		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	619					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGCAGACAACCTTTATGAGAT	0.473000													6	114					0.0215528	0.0221649	1	1	0
NHS	4810	broad.mit.edu	37	X	17744597	17744597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744597G>A	ENST00000380060.3	+	6	2646	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	NHS_ENST00000398097.3_Missense_Mutation_p.D614N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	770						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATGCACTTTGACTGTGGTCT	0.493000													17	137					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215283	18215283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18215283G>A	ENST00000388870.2	+	20	2399	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	KDM1B_ENST00000397244.1_Missense_Mutation_p.A488T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A10T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A487T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	719					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGCTGTCGCATCCGTGAG	0.572000													15	30					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406643	91406643	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91406643C>A	ENST00000370440.1	-	3	485	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G90C			Q9H582	ZN644_HUMAN	zinc finger protein 644	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTAGACTGGCCTCCACTTAAG	0.393000													21	112					1.96292e-10	2.41709e-10	1	1	0
KAZN	23254	broad.mit.edu	37	1	15361333	15361333	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15361333C>T	ENST00000376030.2	+	3	801	c.507C>T	c.(505-507)cgC>cgT	p.R169R	KAZN_ENST00000503743.1_Silent_p.R169R|KAZN_ENST00000400797.3_Silent_p.R75R|KAZN_ENST00000361144.5_Silent_p.R163R|KAZN_ENST00000422387.2_Silent_p.R169R|KAZN_ENST00000400798.2_Silent_p.R75R	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	169					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGAGAGCCGCGAGGAGCAGC	0.617000													18	53					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120584	94120584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120584G>A	ENST00000369303.4	-	3	651	c.467C>T	c.(466-468)aCc>aTc	p.T156I	EPHA7_ENST00000369297.1_Missense_Mutation_p.T156I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	156						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCACCTTGGGTAAAACTTTC	0.373000													40	67					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219457400	219457400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219457400G>A	ENST00000273064.6	+	7	1076	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RQCD1_ENST00000295701.5_Missense_Mutation_p.R234K|RQCD1_ENST00000542068.1_Missense_Mutation_p.R234K|RQCD1_ENST00000509807.2_Missense_Mutation_p.R266K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	234					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGTAGTGAGATGTTACCTT	0.443000													51	63					0	0	1	0	0
IL5RA	0	broad.mit.edu	37	3	3118281	3118281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3118281C>A	ENST00000446632.2	-	10	1599	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	IL5RA_ENST00000256452.3_Missense_Mutation_p.W342L|IL5RA_ENST00000445864.2_Missense_Mutation_p.W133L|IL5RA_ENST00000418488.2_Missense_Mutation_p.W247L|IL5RA_ENST00000438560.1_Missense_Mutation_p.W342L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	342					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AATGACAAACCACTCTCTCAA	0.363000													5	52					0.00116845	0.00124821	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88472533	88472533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88472533G>T	ENST00000394480.1	-	17	2343	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	NTRK3_ENST00000557856.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H576Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H666Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.H674Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	674	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGCACAAAGTGCTGGGAGG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	49					8.12818e-05	8.99451e-05	1	1	0
RCAN1	1827	broad.mit.edu	37	21	35890511	35890511	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35890511G>A	ENST00000481448.1	-	5	1086	c.600C>T	c.(598-600)agC>agT	p.S200S	RCAN1_ENST00000381132.2_Silent_p.S155S|RCAN1_ENST00000443408.2_Silent_p.S75S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Silent_p.S210S|RCAN1_ENST00000399272.1_Silent_p.S129S|RCAN1_ENST00000487990.1_Silent_p.S75S|RCAN1_ENST00000482533.1_Silent_p.S75S|RCAN1_ENST00000381135.3_Silent_p.S200S			P53805	RCAN1_HUMAN	regulator of calcineurin 1	210					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGACCACCACGCTGGGAGTGG	0.488000													21	37					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154306	5154306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154306C>T	ENST00000252321.3	+	1	1222	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	331						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGACCACGTGCGTCATCTGGT	0.647000													4	60					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7994606	7994606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7994606C>T	ENST00000318888.4	-	16	1641	c.770G>A	c.(769-771)gGc>gAc	p.G257D	ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G470D|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.G522D|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G556D|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G257D|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000296372.8_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	522	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGGTCCAAGCCATTCTTTCC	0.552000													6	15					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754118	6754118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6754118C>T	ENST00000245908.6	-	8	1598	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	SH2D3A_ENST00000437152.3_Silent_p.A350A	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	443					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAAAGGCCAGCGCAGCCTCCG	0.647000													5	11					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192146	114192146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114192146G>A	ENST00000369405.3	-	9	1502	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.T356I|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	360						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TAAACCTCTTGTGGCTAAAAT	0.368000													7	121					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118642422	118642422	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118642422G>A	ENST00000336338.5	-	6	701	c.634_splice	c.e6-1	p.D212_splice		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	212						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGCTCATCGTCTGTTCAAA	0.398000													19	25					0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51889146	51889146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51889146A>G	ENST00000300091.5	+	4	927	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	C18orf54_ENST00000382911.4_Missense_Mutation_p.K360E|C18orf54_ENST00000578138.1_5'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	199						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTAGGTGACAAAATTGAATT	0.333000													5	28					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74637348	74637348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74637348C>T	ENST00000253159.8	+	22	4057	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R1289*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1287					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483000													31	30					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904445	10904445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10904445G>T	ENST00000314646.5	+	8	1206	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	DNM2_ENST00000408974.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.G348*|DNM2_ENST00000355667.6_Nonsense_Mutation_p.G348*			P50570	DYN2_HUMAN	dynamin 2	348					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGAGGGCTCAGGAGATCAGGT	0.547000			"""F, N, Splice, Mis, O"""		ETP ALL								5	120					3.59834e-05	4.01776e-05	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323529	29323529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29323529G>T	ENST00000377154.1	-	4	743	c.444C>A	c.(442-444)tgC>tgA	p.C148*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.C148*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCAGCCCAGCATGAGGCTG	0.433000													6	70					0.217242	0.218821	1	1	0
C17orf74	201243	broad.mit.edu	37	17	7329070	7329070	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7329070C>T	ENST00000333870.3	+	1	137	c.63C>T	c.(61-63)caC>caT	p.H21H	C17orf74_ENST00000574034.1_Silent_p.H21H|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	21						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AAAGCCCCCACGATGCCGAGG	0.547000													102	180					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25877997	25877997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25877997G>A	ENST00000376351.3	+	8	2174	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGTCCCATCGGCATTCCATG	0.418000													10	45					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080388	152080388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080388G>A	ENST00000368804.1	-	2	5304	c.5305C>T	c.(5305-5307)Cgc>Tgc	p.R1769C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1769	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCGCGCTCCTGGCGG	0.592000													25	54					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14150255	14150255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14150255G>A	ENST00000380959.3	-	5	1168	c.695C>T	c.(694-696)aCc>aTc	p.T232I	NFIB_ENST00000397579.2_Missense_Mutation_p.T232I|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.T232I|NFIB_ENST00000397581.2_Missense_Mutation_p.T232I|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.T258I|NFIB_ENST00000380953.1_Missense_Mutation_p.T232I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	232					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTCCCTGGGTTATGGGCGC	0.443000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								7	227					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123503324	123503324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123503324C>T	ENST00000369043.3	-	12	1514	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ATE1_ENST00000540606.1_Silent_p.K469K|ATE1_ENST00000535655.1_Silent_p.K177K|ATE1_ENST00000543447.1_Silent_p.K361K|ATE1_ENST00000224652.6_Silent_p.K476K|ATE1_ENST00000369040.3_Silent_p.K380K	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	476					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGATGGCTCTCTTGTGAAACA	0.463000													34	42					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962776	117962776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117962776G>A	ENST00000425217.1	-	14	2067	c.2013C>T	c.(2011-2013)aaC>aaT	p.N671N	KSR2_ENST00000302438.5_Silent_p.N397N|KSR2_ENST00000339824.5_Silent_p.N700N|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	700	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGTCCTCGTTGTCCCTCT	0.607000													13	12					0	0	1	0	0
ABCC6P1	0	broad.mit.edu	37	16	18602499	18602499	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:18602499C>T	ENST00000546162.2	+	0	1073					NR_003569.1																						GCCCTTCCTACGGCAAGAAGG	0.567000													18	37					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897497	43897497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43897497C>A	ENST00000291536.3	-	7	798	c.631G>T	c.(631-633)Gct>Tct	p.A211S	RSPH1_ENST00000398352.3_Missense_Mutation_p.A173S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	211					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATTTGGGTAGCTTTCCATTTT	0.453000													33	63					2.81731e-10	3.46434e-10	1	1	0
EXT1	2131	broad.mit.edu	37	8	118834803	118834803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:118834803G>A	ENST00000378204.2	-	5	2124	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	440					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAACTGTTACGTGATATGTGC	0.358000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				22	49					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002278	79002278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002278G>T	ENST00000370757.3	+	3	1223	c.986G>T	c.(985-987)aGc>aTc	p.S329I	PTGFR_ENST00000370758.1_Missense_Mutation_p.S329I|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	329					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATGTCATCAGCTTACATATT	0.388000													7	149					2.17888e-05	2.45068e-05	1	1	0
GINS3	64785	broad.mit.edu	37	16	58426548	58426548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58426548C>T	ENST00000318129.5	+	1	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GINS3_ENST00000426538.2_Missense_Mutation_p.P15S|GINS3_ENST00000328514.7_Missense_Mutation_p.P15S	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	15	Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.				DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCGCTGGGGCCTGAGGAGAA	0.597000													22	43					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664326	43664326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43664326C>A	ENST00000319357.5	+	7	1309	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	377					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTTCATATACTCTAGGACAA	0.373000													69	59					6.07242e-22	8.00605e-22	1	1	0
ATP6AP2	10159	broad.mit.edu	37	X	40458973	40458973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:40458973C>T	ENST00000378438.4	+	7	876	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L164F|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L162F|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L208F|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	240					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCTAAGATCCTTGTTGACGC	0.398000													31	55					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160964245	160964245	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160964245T>C	ENST00000283249.2	-	14	2450	c.2213A>G	c.(2212-2214)gAt>gGt	p.D738G	ITGB6_ENST00000409872.1_Missense_Mutation_p.D738G|ITGB6_ENST00000428609.2_Missense_Mutation_p.D696G|ITGB6_ENST00000409967.2_Missense_Mutation_p.D631G			P18564	ITB6_HUMAN	integrin, beta 6	738	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTTTACGATCATGAAATGA	0.463000													11	88					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169592	51169592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51169592G>T	ENST00000293441.1	-	22	5643	c.5625C>A	c.(5623-5625)agC>agA	p.S1875R	SHANK1_ENST00000391813.1_Missense_Mutation_p.S1262R|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1866R|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1883R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1875					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAAGCTTGGAGCTGAGTTCAC	0.697000													7	15					0.00198382	0.00210581	1	1	0
MARCH2	51257	broad.mit.edu	37	19	8486897	8486897	+	Missense_Mutation	SNP	C	C	T	rs138648064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8486897C>T	ENST00000602117.1	+	2	628	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MARCH2_ENST00000393944.1_Missense_Mutation_p.P58L|MARCH2_ENST00000381035.4_Missense_Mutation_p.P58L|MARCH2_ENST00000215555.2_Missense_Mutation_p.P58L|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	58					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TTGGACACACCGAGGTGAGTG	0.607000													16	33					0	0	1	0	0
HDDC2	51020	broad.mit.edu	37	6	125614012	125614012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125614012C>A	ENST00000398153.1	-	4	556	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HDDC2_ENST00000368377.4_Missense_Mutation_p.R84I	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	118	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GAGCTCCTTTCTGAGGTCCTC	0.343000													43	90					3.68337e-26	4.90535e-26	1	1	0
POLD3	10714	broad.mit.edu	37	11	74340269	74340269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74340269C>T	ENST00000263681.2	+	9	1036	c.907C>T	c.(907-909)Cga>Tga	p.R303*	POLD3_ENST00000527458.1_Nonsense_Mutation_p.R264*|POLD3_ENST00000532497.1_Nonsense_Mutation_p.R197*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	303					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGGGGGAAGCGAGTAGCATT	0.383000													46	118					0	0	1	0	0
IGHV3-72	0	broad.mit.edu	37	14	107199192	107199192	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199192G>A	ENST00000433072.2	-	0	176																											GACCCTCCAGGCTGGACCAAG	0.592000													23	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057153	9057153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9057153G>A	ENST00000397910.4	-	3	30496	c.30293C>T	c.(30292-30294)cCt>cTt	p.P10098L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10100	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGAAGAAGGATGAATTTT	0.463000													6	76					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703916	47703916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47703916C>T	ENST00000254480.5	-	20	2185	c.2066G>A	c.(2065-2067)aGt>aAt	p.S689N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	689					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTGACTGACTGAAGGGGAC	0.512000													11	28					0	0	1	0	0
BBS5	129880	broad.mit.edu	37	2	170344594	170344594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170344594G>T	ENST00000295240.3	+	5	732	c.356G>T	c.(355-357)aGa>aTa	p.R119I	BBS5_ENST00000392663.2_Missense_Mutation_p.R119I|BBS5_ENST00000554017.1_Missense_Mutation_p.R119I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R119I	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAAGCCCTAGACTTTTTACT	0.338000									Bardet-Biedl syndrome				39	55					6.04917e-29	8.08967e-29	1	1	0
SLC35C1	55343	broad.mit.edu	37	11	45827637	45827637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45827637C>T	ENST00000314134.3	+	1	1681	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SLC35C1_ENST00000442528.2_Silent_p.A82A|SLC35C1_ENST00000456334.1_Silent_p.A82A	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	95						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCGCTCTGGCCGCCTGCTGCC	0.667000													14	26					0	0	1	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391089	50391089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50391089G>T	ENST00000418577.1	+	3	1159	c.583G>T	c.(583-585)Gct>Tct	p.A195S	XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.A195S|CYB561D2_ENST00000232508.5_Missense_Mutation_p.A195S|CYB561D2_ENST00000424512.1_Missense_Mutation_p.A195S			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	195	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGTACCTGGCTGTATTATG	0.562000													43	81					1.30475e-32	1.75117e-32	1	1	0
MBD2	8932	broad.mit.edu	37	18	51715253	51715253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51715253C>A	ENST00000256429.3	-	3	1059	c.831G>T	c.(829-831)caG>caT	p.Q277H		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	277					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CCTGACGTGGCTGTTCATTCA	0.333000													10	153					3.07112e-06	3.52574e-06	1	1	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214117	3214117	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3214117C>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CTCTTAACTTCTGTGGCCCCA	0.522000													8	117					0.00307968	0.00325696	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465764	10465764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465764C>A	ENST00000382483.3	-	4	6067	c.5844G>T	c.(5842-5844)caG>caT	p.Q1948H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1948					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCTGGGCCGCCT	0.602000													11	134					0.105934	0.108051	1	1	0
CUX1	1523	broad.mit.edu	37	7	101877506	101877506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101877506G>A	ENST00000360264.3	+	22	3661	c.3641G>A	c.(3640-3642)cGg>cAg	p.R1214Q	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1101Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1045Q|CUX1_ENST00000550008.2_Missense_Mutation_p.R1147Q|CUX1_ENST00000549414.2_Missense_Mutation_p.R1181Q|CUX1_ENST00000292535.7_Missense_Mutation_p.R1203Q|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1203					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACATGAAACGGATGGAGAAG	0.547000													11	30					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189063519G>T	ENST00000332517.3	+	3	758	c.618G>T	c.(616-618)gaG>gaT	p.E206D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448000													8	35					0.000157383	0.00017284	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372162	34372162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372162C>T	ENST00000297625.7	-	2	903	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	260					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGTGGTAGCGCGCCTGAAGCC	0.667000													6	10					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797635	125797635	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125797635C>A	ENST00000373642.1	+	1	830	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	264						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ATTTTACATCCTCTGGTTGCC	0.507000													35	81					2.19358e-23	2.90382e-23	1	1	0
SKAP1	8631	broad.mit.edu	37	17	46423329	46423329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46423329C>T	ENST00000336915.6	-	4	287	c.218G>A	c.(217-219)aGc>aAc	p.S73N	SKAP1_ENST00000584924.1_Missense_Mutation_p.S73N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	73					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGAGTCCCGCTGTGATTATC	0.448000													13	11					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3418809	3418809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3418809C>T	ENST00000336727.3	+	8	3501	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.T866M|RGS12_ENST00000344733.5_Missense_Mutation_p.T866M|RGS12_ENST00000338806.4_Missense_Mutation_p.T218M|RGS12_ENST00000306648.7_Missense_Mutation_p.T264M|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.T208M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	866						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGTGTCCACGCCAAAAAAG	0.637000													17	17					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160485509	160485509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160485509G>T	ENST00000356956.1	+	28	4111	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1321					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGCCATAAGGTTTATCAGC	0.522000													15	113					2.32078e-09	2.82054e-09	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22155933	22155933	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22155933A>G	ENST00000374695.3	-	87	12014	c.11935T>C	c.(11935-11937)Ttc>Ctc	p.F3979L	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3979	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGGACACGAAGTCCTCCACA	0.642000													3	46					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22052380	22052380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22052380C>T	ENST00000306385.5	+	12	2257	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	BMP1_ENST00000397816.3_Silent_p.F529F|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.F529F|BMP1_ENST00000306349.8_Silent_p.F529F	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	529	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCTCAAGTTCGTCTCTGACG	0.577000													34	38					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59835392	59835392	+	Missense_Mutation	SNP	C	C	T	rs138713289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59835392C>T	ENST00000395125.1	+	25	3075	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1018C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1008C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAAGGGAACGTAAAATGAG	0.378000													4	19					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056066	58056066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056066G>T	ENST00000556826.1	-	3	691	c.455C>A	c.(454-456)aCt>aAt	p.T152N	SLC35F4_ENST00000339762.6_Missense_Mutation_p.T188N|SLC35F4_ENST00000554729.1_Missense_Mutation_p.T29N	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTATAAGTAATTTTTAC	0.398000													3	44					0.115264	0.117355	1	1	0
APBA2	321	broad.mit.edu	37	15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29385292G>A	ENST00000558402.1	+	8	1683	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	APBA2_ENST00000558259.1_Missense_Mutation_p.E362K|APBA2_ENST00000411764.1_Missense_Mutation_p.E362K|APBA2_ENST00000561069.1_Missense_Mutation_p.E362K|APBA2_ENST00000558330.1_Missense_Mutation_p.E362K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	362					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522000													20	37					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16945678	16945678	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16945678A>T	ENST00000412962.1	-	0	1841																											TGCCTAGGAAATGTGCCCACT	0.612000													25	191					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49230527	49230527	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49230527T>C	ENST00000308025.3	-	10	1140	c.1061A>G	c.(1060-1062)gAt>gGt	p.D354G		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	354						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCAATGACGATCATCCCAGCG	0.527000													12	151					0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3019874	3019874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3019874G>A	ENST00000338130.2	+	10	1393	c.681G>A	c.(679-681)tgG>tgA	p.W227*	NQO2_ENST00000380430.1_Nonsense_Mutation_p.W227*|NQO2_ENST00000380455.4_Nonsense_Mutation_p.W227*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.W189*|NQO2_ENST00000380441.1_Nonsense_Mutation_p.W189*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	227						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CAGCCCACTGGCACTTCGGGC	0.552000													15	26					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922829	150922829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150922829A>G	ENST00000261800.5	-	9	7871	c.7859T>C	c.(7858-7860)gTc>gCc	p.V2620A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2620	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTAGGTGACATCTGCGTT	0.463000													15	165					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33029970	33029970	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33029970T>G	ENST00000330899.4	+	4	581	c.398T>G	c.(397-399)aTt>aGt	p.I133S	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_De_novo_Start_InFrame	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	133					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AAGAATGTGATTTGTGACAAA	0.328000													4	71					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909752	25909752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25909752C>A	ENST00000398988.3	+	5	635	c.190C>A	c.(190-192)Ctc>Atc	p.L64I	KSR1_ENST00000509603.2_Missense_Mutation_p.L201I|KSR1_ENST00000319524.6_Missense_Mutation_p.L201I|KSR1_ENST00000268763.6_Missense_Mutation_p.L64I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	199					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACGGACACCCTCTCAGCAGC	0.667000													13	26					1.49906e-05	1.69169e-05	1	1	0
VSTM2A	222008	broad.mit.edu	37	7	54612359	54612359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:54612359C>T	ENST00000302287.3	+	2	530	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	VSTM2A_ENST00000407838.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Q41*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Q42*			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	42	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACCGAGGGGCAGAATGTGGA	0.592000													10	54					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36509857	36509857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36509857G>A	ENST00000360535.4	-	9	1353	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGGGTCCGGGGTGTGGAG	0.617000													30	40					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666427	167666427	+	Missense_Mutation	SNP	C	C	T	rs148941543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167666427C>T	ENST00000367854.3	+	6	897	c.566C>T	c.(565-567)gCg>gTg	p.A189V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A159V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	189										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GATTTCAGGGCGGTGGAGTCA	0.557000													41	37					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035474	32035474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32035474G>A	ENST00000375244.3	-	18	6709	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2170W			P22105	TENX_HUMAN	tenascin XB	2242	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652000													13	17					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100674976G>A	ENST00000306151.4	+	3	343	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGATGACCTCGATTGAGTCCA	0.488000													24	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086385	9086385	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086385T>C	ENST00000397910.4	-	1	5633	c.5430A>G	c.(5428-5430)aaA>aaG	p.K1810K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1810	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTTCTGAGTTTTTCTTTTC	0.463000													37	53					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103040568	103040568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103040568C>T	ENST00000418604.1	+	3	342	c.62C>T	c.(61-63)gCc>gTc	p.A21V	PLP1_ENST00000303958.2_Missense_Mutation_p.A21V|PLP1_ENST00000361621.2_Missense_Mutation_p.A21V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	21					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCCTGGTGGCCACTGGATTG	0.517000													89	129					0	0	1	0	0
TSC22D3	1831	broad.mit.edu	37	X	107018362	107018362	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107018362C>A	ENST00000372383.4	-	1	655	c.288G>T	c.(286-288)caG>caT	p.Q96H	TSC22D3_ENST00000506081.1_Missense_Mutation_p.Q96H|TSC22D3_ENST00000315660.4_Missense_Mutation_p.Q96H|TSC22D3_ENST00000514426.1_Missense_Mutation_p.Q28H|TSC22D3_ENST00000372384.2_Missense_Mutation_p.Q96H	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGAGCATGGTCTGGTCGATGT	0.607000													9	97					1.12685e-05	1.27857e-05	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48685340	48685340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48685340C>T	ENST00000544264.1	-	21	7358	c.7078G>A	c.(7078-7080)Gat>Aat	p.D2360N	CELSR3_ENST00000164024.4_Missense_Mutation_p.D2355N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2355					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGGCATCCTGGCCTCGA	0.647000													50	87					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200096	67200096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67200096G>T	ENST00000312629.5	+	6	528	c.483G>T	c.(481-483)gaG>gaT	p.E161D	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	161	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCATCTGGAGCGAGAGGGCA	0.567000													8	75					5.18039e-06	5.91835e-06	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9013818	9013818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9013818A>G	ENST00000299698.7	+	28	3607	c.3427A>G	c.(3427-3429)Att>Gtt	p.I1143V	A2ML1_ENST00000539547.1_Missense_Mutation_p.I652V	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	987						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGCTTACATTTTCTCCCT	0.478000													12	105					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113698033	113698033	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113698033A>G	ENST00000003302.4	-	11	1177	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	USP28_ENST00000260188.5_Missense_Mutation_p.F370S|USP28_ENST00000545540.1_Missense_Mutation_p.F245S|USP28_ENST00000544967.1_Missense_Mutation_p.F78S|USP28_ENST00000537706.1_Missense_Mutation_p.F370S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	370					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTAAACTCAAATCTTGAGAG	0.363000													28	33					0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866754	48866754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48866754C>A	ENST00000266594.1	+	1	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	103										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AATTAAAGACCTCAGCACAAT	0.408000													27	37					9.90768e-06	1.12802e-05	1	1	0
ZNF839	55778	broad.mit.edu	37	14	102805268	102805268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102805268G>A	ENST00000262236.5	+	6	1782	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	ZNF839_ENST00000442396.2_Missense_Mutation_p.S592N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Missense_Mutation_p.S476N|ZNF839_ENST00000558850.1_Missense_Mutation_p.S476N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	476						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGAGCTAGCAGCGAGAAG	0.547000													3	29					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12288148	12288148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12288148T>C	ENST00000261349.4	-	17	3770	c.3694A>G	c.(3694-3696)Atg>Gtg	p.M1232V	LRP6_ENST00000543091.1_Missense_Mutation_p.M1232V|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1232	EGF-like 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAGGTGCATGGGGCAAGAA	0.423000													10	100					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550173	39550173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550173G>A	ENST00000265707.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A602T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A40T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	626	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACTGTAATGCCACCACAAA	0.303000													23	35					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383379	78383379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78383379C>T	ENST00000334785.7	+	3	340	c.156C>T	c.(154-156)gaC>gaT	p.D52D	NEXN_ENST00000294624.8_Silent_p.D52D|NEXN_ENST00000457030.1_Silent_p.D52D|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	52	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GATCTAGAGACGAAAAACAAA	0.353000													13	48					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58076166	58076166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58076166G>A	ENST00000219271.3	+	7	1981	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	399	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGCACAACCGCGTCCTGGAC	0.637000													15	32					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70814781	70814781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70814781G>A	ENST00000261776.5	-	9	1268	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	336					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGCTCGTCGTCCTCGGGGG	0.592000													9	33					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791086	5791086	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5791086C>T	ENST00000328090.5	+	15	6327	c.5702C>T	c.(5701-5703)gCg>gTg	p.A1901V		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1901																	TGGACTGCTGCGGTAAAGAAA	0.537000													8	13					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583574	24583574	+	Missense_Mutation	SNP	G	G	A	rs114116915	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24583574G>A	ENST00000358321.3	+	12	2188	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	643	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTCACCTACGATTCCTGGTT	0.632000													22	26					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100453411	100453411	+	Missense_Mutation	SNP	G	G	A	rs145345547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100453411G>A	ENST00000354161.3	+	4	525	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V134I	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	134						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCTGTGCCGTCTCCCTCCT	0.622000													42	86					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337275	22337275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22337275G>A	ENST00000299853.5	+	18	1709	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	POLR3E_ENST00000359210.4_Silent_p.A514A|POLR3E_ENST00000564209.1_Silent_p.A514A|POLR3E_ENST00000418581.2_Silent_p.A478A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	514					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		agcaggaggcggaggaggagC	0.716000													4	2					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084731	147084731	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147084731T>A	ENST00000370467.3	+	2	362	c.288T>A	c.(286-288)taT>taA	p.Y96*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	96						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTCATATTTTGTGCTTG	0.353000													58	125					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56138777G>A	ENST00000319441.4	+	6	1119	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A187T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542000													34	56					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478000													37	64					1.07121e-22	1.41502e-22	1	1	0
GLOD4	51031	broad.mit.edu	37	17	679034	679034	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:679034A>G	ENST00000301329.6	-	4	472	c.387T>C	c.(385-387)aaT>aaC	p.N129N	GLOD4_ENST00000301328.5_Silent_p.N144N|GLOD4_ENST00000536578.1_Silent_p.N120N	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	144						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACTGCGATTCTGCAAAT	0.488000													12	67					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33164153	33164153	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33164153C>A	ENST00000413614.2	-	4	982	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGAACAGACCTAGACTGCCT	0.582000													7	101					0.000274275	0.000298791	1	1	0
RUVBL1	8607	broad.mit.edu	37	3	127831743	127831743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127831743G>A	ENST00000464873.1	-	3	919	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RUVBL1_ENST00000322623.5_Missense_Mutation_p.R117C|RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	117					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.R117C(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512000													30	40					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154250245	154250245	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250245C>A	ENST00000517876.1	+	5	812	c.336C>A	c.(334-336)tcC>tcA	p.S112S	CNOT8_ENST00000520671.1_Silent_p.S6S|CNOT8_ENST00000403027.2_Silent_p.S112S|CNOT8_ENST00000521450.1_Silent_p.S6S|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Silent_p.S112S|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Silent_p.S6S|CNOT8_ENST00000523698.1_Silent_p.S6S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	112					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGATTCCATAGATCTCC	0.423000													5	114					3.59834e-05	4.01776e-05	1	1	0
SLC35D3	340146	broad.mit.edu	37	6	137245552	137245552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137245552G>A	ENST00000331858.4	+	2	1134	c.969G>A	c.(967-969)gcG>gcA	p.A323A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	323					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAGAGGAGGCGCAGCTAAGTG	0.622000													10	13					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4682774	4682774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4682774G>T	ENST00000262960.9	-	20	2685	c.2408C>A	c.(2407-2409)cCt>cAt	p.P803H	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.P774H|DPP9_ENST00000594671.1_Missense_Mutation_p.P774H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	774					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTTGTTCTCAGGGACGTCCAT	0.647000													4	5					0.00909568	0.00947522	1	1	0
GPR37	2861	broad.mit.edu	37	7	124404931	124404931	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404931A>C	ENST00000303921.2	-	1	750	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	34						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTTTCTGGACGCAGGGGCG	0.642000													12	9					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121154477	121154477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121154477C>T	ENST00000344651.4	+	3	445	c.405C>T	c.(403-405)agC>agT	p.S135S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	135										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGACATCAGCGCAGGACGTT	0.537000													10	294					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279546	50279546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279546C>A	ENST00000216268.4	+	2	2713	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	746						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTACCTGACCCTCACGGCCCA	0.577000													4	40					0.150653	0.152692	1	1	0
TAB3	257397	broad.mit.edu	37	X	30872594	30872594	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30872594T>C	ENST00000378933.1	-	3	1365	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	TAB3_ENST00000288422.2_Silent_p.Q396Q|TAB3_ENST00000378932.2_Silent_p.Q396Q|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Silent_p.Q396Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	396	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACAGTGAGTGTTGATTCCATG	0.413000													41	92					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36763110	36763110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36763110G>A	ENST00000416516.2	-	3	1983	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	498	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAAAATCAGCCAATTTCAA	0.408000													29	38					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65472930	65472930	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65472930G>T	ENST00000341653.2	-	4	291	c.244C>A	c.(244-246)Cat>Aat	p.H82N	FNTB_ENST00000555742.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|FNTB_ENST00000246166.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	NM_197957.2	NP_932061.1	P61244	MAX_HUMAN	MYC associated factor X	0	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTAGCCATGGCAGAAAACA	0.368000													17	122					4.7546e-09	5.74312e-09	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767778G>T	ENST00000371030.2	+	1	1704	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	568						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711000													11	8					0.000978159	0.00105116	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226026412	226026412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026412C>T	ENST00000366837.4	+	4	618	c.422C>T	c.(421-423)cCg>cTg	p.P141L	EPHX1_ENST00000272167.5_Missense_Mutation_p.P141L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	141					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCATACCCCGAAGCCCTTG	0.602000													34	104					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1828318	1828318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1828318G>T	ENST00000518288.1	+	10	1186	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K341N|ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K316N|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K341N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	341					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGGCAGAAGCATGAACTGA	0.557000													12	22					5.16669e-11	6.41398e-11	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103027235	103027235	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103027235C>G	ENST00000375735.2	+	26	4007	c.3863C>G	c.(3862-3864)aCt>aGt	p.T1288S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1288	Stem (By similarity).		T -> A (in dbSNP:rs17301750).		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTCGAACTATGAAGCTG	0.358000													8	69					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37576543	37576543	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37576543G>A	ENST00000217429.4	+	3	807	c.766G>A	c.(766-768)Gga>Aga	p.G256R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	226					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACTATCACAGGAAATATCTA	0.428000													4	143					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806684	33806684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806684G>A	ENST00000260908.7	-	2	662	c.545C>T	c.(544-546)gCa>gTa	p.A182V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.A213V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A211V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	214						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GGCCCTTTTTGCAGGGAATTC	0.403000													3	18					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574233	154574233	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154574233G>A	ENST00000368474.4	-	2	1084	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ADAR_ENST00000292205.5_Silent_p.D338D|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	295					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCGGCCATGTCTAAAAACT	0.478000													8	151					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85769031	85769031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85769031C>T	ENST00000306434.3	+	5	608	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MAT2A_ENST00000409017.1_Missense_Mutation_p.A99V|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	162					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCTAAATGCCAAACTGGCA	0.418000													40	58					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133761036	133761036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133761036C>T	ENST00000318560.5	+	11	3740	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCCTCAGTTCGGTGAAGGAA	0.587000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								12	12					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198934	52198934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198934C>A	ENST00000371471.2	-	2	857	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ZNF217_ENST00000302342.3_Missense_Mutation_p.E144D			O75362	ZN217_HUMAN	zinc finger protein 217	144					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCATGTGGATCTCAACATCAA	0.423000													20	186					3.5997e-14	4.58862e-14	1	1	0
KATNBL1	79768	broad.mit.edu	37	15	34445073	34445073	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34445073C>T	ENST00000256544.3	-	4	498	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		CAAATATGTTCGACTATCATG	0.413000													7	104					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671579	49671579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49671579C>T	ENST00000252826.5	+	5	637	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R171W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	171					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGTGGCTGTACGGGACCATCA	0.637000													45	60					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845162	53845162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53845162G>A	ENST00000288139.3	+	49	6393	c.6275G>A	c.(6274-6276)gGa>gAa	p.G2092E	CACNA1D_ENST00000350061.5_Missense_Mutation_p.G2072E|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G2048E	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2072					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAGGCTTGGGACGCTATGCA	0.517000													21	41					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049554	38049554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049554C>A	ENST00000463876.1	-	14	2552	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	PLCD1_ENST00000334661.4_Missense_Mutation_p.K712N	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	712					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAAGTCATTCTTGGAGGAGG	0.542000													21	31					6.21321e-17	8.03594e-17	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107267193	107267193	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107267193C>A	ENST00000334726.2	+	1	739	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTGTATCTCTTATGCATTT	0.458000													17	195					1.99824e-07	2.35189e-07	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10720038	10720038	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10720038T>C	ENST00000377022.3	-	6	1378	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	CASZ1_ENST00000344008.5_Missense_Mutation_p.E354G	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGCTGCCCTCCCCGGGTTT	0.642000													8	86					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140811789	140811789	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140811789A>C	ENST00000371372.1	+	6	1017	c.872A>C	c.(871-873)aAc>aCc	p.N291T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.N291T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N291T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	291					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGACCCAACTTTGGCATC	0.582000													36	64					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423806	47423806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47423806A>T	ENST00000404338.3	+	1	1874	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	625					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AATGATGACAAGTATGTGATA	0.453000													8	140					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083137	17083137	+	Silent	SNP	C	C	T	rs139281325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17083137C>T	ENST00000377833.4	-	27	3977	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1304	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTGCAATGCTGATTTTCAG	0.393000													15	144					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022013	34022013	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34022013G>A	ENST00000374372.1	-	4	1703	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	GDF5_ENST00000374369.3_Silent_p.C400C|GDF5OS_ENST00000374375.1_Silent_p.L19L			P43026	GDF5_HUMAN	growth differentiation factor 5	400			C -> Y (in AMDG).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTCCGACTGCAGCGAGCCT	0.612000													71	81					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57641872	57641872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641872G>A	ENST00000254181.4	+	4	2283	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	USP29_ENST00000598197.1_Missense_Mutation_p.C610Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	610					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGACTGTGGAGATGCA	0.478000													12	30					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44442806	44442806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44442806G>T	ENST00000342649.4	+	10	1657	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TCAIM_ENST00000417237.1_Missense_Mutation_p.E410D	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		AGGCAAGAGAGAACATGAAAA	0.403000													35	46					2.47316e-13	3.13538e-13	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143074858	143074858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074858C>T	ENST00000367603.2	-	10	7469	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A2243T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A2243T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGAAAGGGCTGGCGGCATG	0.567000													15	45					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78163620	78163620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78163620C>T	ENST00000573882.1	+	8	1448	c.912C>T	c.(910-912)cgC>cgT	p.R304R	CARD14_ENST00000344227.2_Silent_p.R304R|CARD14_ENST00000392434.2_Silent_p.R67R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.R304R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	304					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTGGAGCGCATCCACTCGC	0.682000													9	19					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	G	A	rs144936310	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19740991G>A	ENST00000203556.4	-	21	2831	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	GMIP_ENST00000445806.2_Silent_p.T869T|GMIP_ENST00000587238.1_Silent_p.T872T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701000													9	16					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891353	44891353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891353C>A	ENST00000330997.4	-	4	1118	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.G359W|ZNF285_ENST00000544719.2_Missense_Mutation_p.G352W	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATCCAAACCCTTTCCCACAT	0.478000													22	30					0.000295444	0.000321833	1	1	0
F8	2157	broad.mit.edu	37	X	154133299	154133299	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133299C>A	ENST00000360256.4	-	16	5574		c.e16-1			NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAAGTTACCTGTAGAACAA	0.368000													21	36					4.96729e-08	5.9048e-08	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74425567	74425567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425567C>T	ENST00000361742.3	+	4	1241	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ISLR2_ENST00000453268.2_Missense_Mutation_p.R158W|ISLR2_ENST00000435464.1_Missense_Mutation_p.R158W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565159.1_Missense_Mutation_p.R158W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R158W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	158					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAACAACAACCGGCTGCGTAC	0.632000													30	40					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20837319	20837319	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20837319C>T	ENST00000256925.7	+	10	1890	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.V303V|CABLES1_ENST00000420687.2_Silent_p.V365V|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	630					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACGGCTGGTCCAGAGTTCCT	0.532000													20	21					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027001	109027001	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:109027001G>T	ENST00000478945.1	-	6	782	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	179						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTGCTGAAGTTATCACTTC	0.463000													36	71					1.15183e-24	1.52881e-24	1	1	0
MCM4	4173	broad.mit.edu	37	8	48887319	48887319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48887319G>A	ENST00000262105.2	+	14	2371	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	MCM4_ENST00000523944.1_Missense_Mutation_p.G721D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	721					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGAAGATTGGCAGTAGCCGG	0.408000													98	145					0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3734741	3734741	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3734741G>A	ENST00000379772.3	-	6	1299	c.489C>T	c.(487-489)taC>taT	p.Y163Y	C20orf27_ENST00000217195.8_Silent_p.Y188Y	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	163										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTCTGAGTCGTATTCCAGCT	0.672000													8	9					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667186	72667186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667186G>A	ENST00000373514.2	+	1	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCGGCACAGGGGGCGGTGG	0.607000													7	23					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75122677G>A	ENST00000395018.4	+	3	616	c.459G>A	c.(457-459)gaG>gaA	p.E153E	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	153						cell junction|synapse	syntaxin binding	p.E153D(1)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592000													9	10					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876632	45876632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45876632G>T	ENST00000291592.4	+	2	422	c.105G>T	c.(103-105)caG>caT	p.Q35H		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	35	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTGCCCACAGCCCTGCCGGT	0.701000													9	30					1.12685e-05	1.27857e-05	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158637679	158637679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158637679C>T	ENST00000368148.3	-	15	2187	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W669*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	669					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTCCTCCCAGAGGCTGG	0.433000													12	51					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27508992	27508992	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27508992G>A	ENST00000356183.4	-	14	2331	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	GTF3C1_ENST00000561623.1_Silent_p.G772G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	772						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGGGTTATGCCCATTTTAT	0.418000													27	65					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378029	138378029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378029G>A	ENST00000356818.2	+	4	2222	c.1673G>A	c.(1672-1674)tGc>tAc	p.C558Y	PPP1R26_ENST00000604351.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000605660.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000401470.3_Missense_Mutation_p.C558Y	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	558						nucleolus	protein binding										GGTGAGAGCTGCCCGCAGGCT	0.612000													56	127					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475318	50475318	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50475318G>A	ENST00000602139.1	+	0	1264									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CTCGGCACCCGCTGGGCTCCC	0.667000													15	26					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51117811	51117811	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51117811C>T	ENST00000414786.2	+	7	1067	c.840C>T	c.(838-840)aaC>aaT	p.N280N	SHANK3_ENST00000445220.2_Silent_p.N280N|SHANK3_ENST00000262795.3_Silent_p.N280N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	280										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCCCAGAACGCCTCGGGGA	0.612000													14	20					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232614	50232614	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50232614C>A	ENST00000333924.4	-	2	460	c.419G>T	c.(418-420)aGg>aTg	p.R140M	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	140	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTTCCGGGTCCTTTGATTCAT	0.443000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	57					4.68919e-08	5.58064e-08	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85573132	85573132	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573132T>C	ENST00000295802.4	-	6	1195	c.1083A>G	c.(1081-1083)gaA>gaG	p.E361E	RETSAT_ENST00000457495.2_Silent_p.E300E|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.E361E	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCAGTAGGTGTTCATAGGTGT	0.582000													56	80					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97602166	97602166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97602166G>A	ENST00000371207.3	+	4	427	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E117K|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E110K|ENTPD1_ENST00000543964.1_Missense_Mutation_p.E2K|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	110					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGATTGCATGGAAAGAGCTAG	0.433000													38	63					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1817379	1817379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1817379C>T	ENST00000518288.1	+	8	880	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ARHGEF10_ENST00000398560.1_Silent_p.Y239Y|ARHGEF10_ENST00000262112.6_Silent_p.Y239Y|ARHGEF10_ENST00000520359.1_Silent_p.Y215Y|ARHGEF10_ENST00000349830.3_Silent_p.Y214Y|ARHGEF10_ENST00000398564.1_Silent_p.Y239Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	239					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAATTTACGATGACGTTC	0.443000													30	46					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127825747	127825747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127825747G>A	ENST00000316724.5	-	7	1015	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BIN1_ENST00000409400.1_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393041.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	202	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCTGATTTCGGAGCAGGTTA	0.612000											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43991225	43991225	+	Missense_Mutation	SNP	C	C	T	rs148934583		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43991225C>T	ENST00000413453.2	+	9	1716	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R398W			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	398	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGATTGTGAACGGCGTCTGGA	0.493000													42	96					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066650	91066650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066650C>A	ENST00000371826.3	+	2	1106	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	313					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGAAAGTTACTGGAACTAAT	0.443000													33	56					4.3181e-19	5.64621e-19	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42334864	42334864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42334864C>T	ENST00000262418.6	-	13	1635	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	494	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G494S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCAGAAGCCGATCCACACG	0.587000													13	38					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28544283C>T	ENST00000401766.2	-	5	1250	c.738G>A	c.(736-738)caG>caA	p.Q246Q	SLC6A4_ENST00000261707.3_Silent_p.Q246Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587000													7	85					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46594465	46594465	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46594465G>A	ENST00000396000.2	+	3	450	c.185G>A	c.(184-186)gGc>gAc	p.G62D	PPARA_ENST00000407236.1_Missense_Mutation_p.G62D|PPARA_ENST00000402126.1_Missense_Mutation_p.G62D|PPARA_ENST00000434345.2_Missense_Mutation_p.G62D|PPARA_ENST00000262735.5_Missense_Mutation_p.G62D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	62					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AGCTGTCCTGGCTCAGATGGC	0.418000													5	55					0	0	1	0	0
SCGB3A2	117156	broad.mit.edu	37	5	147261008	147261008	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147261008G>T	ENST00000296694.4	+	2	148		c.e2-1		SCGB3A2_ENST00000514688.1_Splice_Site|SCGB3A2_ENST00000504320.1_Splice_Site|C5orf46_ENST00000510432.1_Intron	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2							extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTGCAGCTACTGCCTT	0.473000													36	67					3.33393e-15	4.27331e-15	1	1	0
SLC2A12	154091	broad.mit.edu	37	6	134323202	134323202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134323202C>T	ENST00000275230.5	-	4	1788	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	545						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACATAACAACAAAAAGCAGG	0.348000													6	82					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140468102	140468102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140468102G>A	ENST00000274031.3	-	2	778	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SETD7_ENST00000404104.3_Missense_Mutation_p.R48W|SETD7_ENST00000506866.2_Missense_Mutation_p.R48W|SETD7_ENST00000406354.1_Silent_p.D30D	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	48					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTTCCCCCGTCCGTTCTTT	0.458000													17	70					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684476	64684476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684476A>G	ENST00000413366.3	+	7	769	c.743A>G	c.(742-744)gAt>gGt	p.D248G		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	248	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TGGGACTGGGATCGAACAACA	0.463000													31	40					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72185660	72185660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72185660A>G	ENST00000337273.5	+	14	2003	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	TNPO1_ENST00000506351.2_Missense_Mutation_p.Y518C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y476C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y476C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	526					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGTTCCTTACCTTGCTTAT	0.348000													41	56					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54518691	54518691	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54518691G>T	ENST00000234831.5	-	1	420	c.171C>A	c.(169-171)ccC>ccA	p.P57P	TMEM59_ENST00000371337.3_Silent_p.P57P|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	57						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGTGCAAGGGGTAGGTCA	0.637000													22	39					1.36565e-18	1.78266e-18	1	1	0
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348000													5	40					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420496	113420496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113420496G>A	ENST00000272542.3	+	11	2473	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	645					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTTGACTGGCGTCTCTTTCGT	0.483000													30	50					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239874	96239874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96239874C>T	ENST00000347108.3	-	18	2569	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	DZIP1_ENST00000376829.2_Missense_Mutation_p.G713R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G694R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G694R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.G713W(1)|p.G694W(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTTCTTCCCGAAGCTGCCC	0.572000													5	47					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230891088	230891088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230891088C>T	ENST00000354537.1	+	2	301	c.219C>T	c.(217-219)atC>atT	p.I73I	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Silent_p.I73I	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	73	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCAGGAAATCGTGAAAAACC	0.537000													11	39					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968416	76968416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76968416C>T	ENST00000262776.3	-	6	1308	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	334	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCATGGGAGGCACGCTCCCCC	0.637000													5	54					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7844934	7844934	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7844934G>T	ENST00000420658.1	-	5	750	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	AFAP1_ENST00000360265.4_Missense_Mutation_p.L160M|AFAP1_ENST00000358461.2_Missense_Mutation_p.L160M|AFAP1_ENST00000382543.3_Missense_Mutation_p.L160M	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	160	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCCGCAGCAGGAAGGCGCAG	0.552000													28	31					1.08312e-15	1.39118e-15	1	1	0
WDR31	114987	broad.mit.edu	37	9	116085392	116085392	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116085392C>T	ENST00000374195.3	-	0	453				WDR31_ENST00000341761.4_Missense_Mutation_p.R122H|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374193.4_Missense_Mutation_p.R123H			Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCTGTCACGAGAGGCACT	0.512000													8	29					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96109022	96109022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96109022G>A	ENST00000371361.3	-	10	1342	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	NOC3L_ENST00000543788.1_Silent_p.Y152Y|NOC3L_ENST00000371350.1_Silent_p.Y414Y|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	414						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCTAACTTCGTAATTTCTGC	0.323000													25	40					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77387955	77387955	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77387955T>C	ENST00000308488.6	-	13	3525	c.3223A>G	c.(3223-3225)Aaa>Gaa	p.K1075E	RSF1_ENST00000360355.2_Missense_Mutation_p.K1044E|RSF1_ENST00000480887.1_Missense_Mutation_p.K823E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGGGTCGTTTATTTTCTTTT	0.468000													7	114					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285153	19285153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19285153C>T	ENST00000308406.5	+	5	1923	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	MAPK7_ENST00000395602.4_Missense_Mutation_p.R513C|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R374C|MAPK7_ENST00000395604.3_Missense_Mutation_p.R513C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	513	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Nuclear localization signal (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCcaggagcgccagcggga	0.692000													4	2					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89849305	89849305	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89849305G>T	ENST00000389301.3	-	17	1618	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	FANCA_ENST00000568369.1_Missense_Mutation_p.L530I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCCTCGTAGAGTCCCATGTTT	0.502000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	33					0.014758	0.0152625	1	1	0
DHX34	9704	broad.mit.edu	37	19	47879311	47879311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47879311C>T	ENST00000328771.4	+	11	2787	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	813						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCACAGCTGGCCGTCCCCGAC	0.657000													13	25					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110784900	110784900	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110784900C>T	ENST00000282356.4	+	7	1022	c.625_splice	c.e7+1	p.C208_splice	CAMK4_ENST00000512453.1_Splice_Site_p.C208_splice	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	208	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.C208C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGGGTACTGCGGTATGCTCT	0.274000													6	25					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061149	59061149	+	Missense_Mutation	SNP	G	G	T	rs146551435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061149G>T	ENST00000253024.5	+	14	2317	c.2028G>T	c.(2026-2028)aaG>aaT	p.K676N	TRIM28_ENST00000341753.6_Missense_Mutation_p.K594N	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	676					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGACCTGAAGGAGGAGGATG	0.597000													6	121					0.00198382	0.00210581	1	1	0
TIE1	7075	broad.mit.edu	37	1	43770818	43770818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770818G>A	ENST00000372476.3	+	2	434	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	TIE1_ENST00000441333.2_Missense_Mutation_p.V119M|TIE1_ENST00000538015.1_Missense_Mutation_p.V119M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	119					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCATCTACGTGCACAACAG	0.697000													3	12					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039511	3039511	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3039511C>T	ENST00000448120.2	+	5	543	c.492_splice	c.e5+1	p.T164_splice	TULP3_ENST00000397132.2_Splice_Site_p.T164_splice	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	164					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAATTCAACCGTATGTAGTT	0.333000													6	20					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859837	151859837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151859837T>C	ENST00000355193.2	-	43	11043	c.10825A>G	c.(10825-10827)Aag>Gag	p.K3609E	KMT2C_ENST00000262189.6_Missense_Mutation_p.K3609E					lysine (K)-specific methyltransferase 2C									p.R3606fs*5(1)									cttttcttctttcttgttctt	0.433000													7	99					0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081740	44081740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081740C>T	ENST00000372014.3	-	3	409	c.278G>A	c.(277-279)gGc>gAc	p.G93D		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	93					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CATTCGGGGGCCAGGCATGCA	0.557000													55	91					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124790	67124790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67124790G>A	ENST00000284425.2	-	8	1263	c.1089C>T	c.(1087-1089)agC>agT	p.S363S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	363					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGCAAAAGGGCTACAAATAT	0.373000													25	47					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728208	152728208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152728208C>A	ENST00000367255.5	-	45	7265	c.6664G>T	c.(6664-6666)Gaa>Taa	p.E2222*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2259*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2222*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2229*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2222					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGTTTTCTGCCATCTGT	0.443000										HNSCC(10;0.0054)			6	68					0.0215528	0.0221649	1	1	0
GCLC	2729	broad.mit.edu	37	6	53370685	53370685	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370685C>T	ENST00000229416.6	-	11	1689	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	402					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATTTGTGGACTGAATATTCT	0.393000													6	85					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237057785	237057785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237057785C>T	ENST00000366577.5	+	30	3727	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	MTR_ENST00000535889.1_Silent_p.S1060S|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1111	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAGCTGAGCAAGGCCTATG	0.587000													21	58					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101183071	101183071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101183071G>A	ENST00000264254.6	+	2	491	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	38					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GAGGAGCAGCGCATCCTCCAG	0.527000													17	24					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306572	205306572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205306572C>A	ENST00000367156.3	-	9	1824	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q223H|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q202H|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q336H	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	336										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACTCAGACCCTGGTTGACAC	0.572000													8	144					0.000157383	0.00017284	1	1	0
ANKRD16	54522	broad.mit.edu	37	10	5927718	5927718	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5927718G>A	ENST00000380094.5	-	3	1089	c.546C>T	c.(544-546)ggC>ggT	p.G182G	ANKRD16_ENST00000380092.4_Silent_p.G182G|ANKRD16_ENST00000191063.8_Silent_p.G182G	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	182										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CCTCCAAATGGCCATGCATTG	0.443000													29	43					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49982250	49982250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49982250G>T	ENST00000544141.1	-	6	2850	c.2251C>A	c.(2251-2253)Ctg>Atg	p.L751M	FAM186B_ENST00000257894.2_Missense_Mutation_p.L841M|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	841						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTGCAGGGGCACACAT	0.637000													28	55					2.65835e-16	3.4289e-16	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37770817	37770817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770817C>T	ENST00000402918.1	-	3	1543	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	ELFN2_ENST00000349653.3_Missense_Mutation_p.R253Q|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	253						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCACGGGCCGGGCGGGCAG	0.687000													16	20					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228598777	228598777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228598777G>A	ENST00000366697.2	-	3	1582	c.626C>T	c.(625-627)aCg>aTg	p.T209M	TRIM17_ENST00000366698.2_Missense_Mutation_p.T209M|TRIM17_ENST00000295033.3_Missense_Mutation_p.T209M|TRIM17_ENST00000456946.2_Missense_Mutation_p.T209M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	209					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTTCTTCCGTCTCCAGAGC	0.617000													40	50					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618793	134618793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618793G>T	ENST00000361675.2	+	5	1502	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	425					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAAGCACAAGAAGATAAACT	0.373000													25	125					1.42536e-11	1.77909e-11	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196887380	196887380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196887380C>A	ENST00000367416.2	+	10	1715	c.1578C>A	c.(1576-1578)aaC>aaA	p.N526K	CFHR4_ENST00000251424.4_Missense_Mutation_p.N280K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.N280K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATAAAAATAACATACAGTTAA	0.274000													33	40					7.11191e-15	9.09819e-15	1	1	0
ATM	472	broad.mit.edu	37	11	108175415	108175415	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108175415T>G	ENST00000278616.4	+	37	5895	c.5510T>G	c.(5509-5511)tTt>tGt	p.F1837C	ATM_ENST00000452508.2_Missense_Mutation_p.F1837C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1837					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAACTGACTTTTGTCAGACT	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	36					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89960234	89960234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89960234G>A	ENST00000263346.8	+	7	852	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	TCF25_ENST00000263347.7_Missense_Mutation_p.A31T	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	266					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTTCCTGGTGGCCGTGGAGTC	0.602000													7	9					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696246	40696246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40696246G>A	ENST00000225927.2	+	6	2323	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	741						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGGTGGCCGGCTCTTGGTGA	0.572000													17	26					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759335	51759335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51759335G>A	ENST00000543196.2	-	4	898	c.693C>T	c.(691-693)taC>taT	p.Y231Y	GALNT6_ENST00000356317.3_Silent_p.Y231Y			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	231	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCTTCACGTACTGCTCCA	0.632000													40	42					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132515	58132515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58132515C>T	ENST00000396161.5	+	3	1338	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGTCAAAGCCGTTTGAGTGC	0.428000													71	109					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20036606	20036606	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20036606G>T	ENST00000377340.2	-	1	84	c.53C>A	c.(52-54)gCt>gAt	p.A18D	C20orf26_ENST00000377306.1_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A18D|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000245957.5_Intron	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	18					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCAAcagcatttcccaa	0.418000													46	67					1.48734e-19	1.9474e-19	1	1	0
TPM1	7168	broad.mit.edu	37	15	63354834	63354834	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63354834T>G	ENST00000357980.4	+	9	967	c.888T>G	c.(886-888)gaT>gaG	p.D296E	TPM1_ENST00000560959.1_Missense_Mutation_p.D218E|TPM1_ENST00000317516.7_Missense_Mutation_p.D218E|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Missense_Mutation_p.D254E|TPM1_ENST00000403994.3_Missense_Mutation_p.D254E|TPM1_ENST00000559556.1_Missense_Mutation_p.D254E|TPM1_ENST00000267996.7_Missense_Mutation_p.D254E|TPM1_ENST00000288398.6_Missense_Mutation_p.D254E|TPM1_ENST00000358278.3_Missense_Mutation_p.D254E|TPM1_ENST00000559281.1_Missense_Mutation_p.D218E|TPM1_ENST00000334895.5_Missense_Mutation_p.D218E|TPM1_ENST00000404484.4_Missense_Mutation_p.D218E			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	254					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAAGCATTGATGACTTAGAAG	0.368000													31	54					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33133834	33133834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33133834G>T	ENST00000373493.5	+	4	478	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000373485.1_Missense_Mutation_p.G107C|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.G72C|RBBP4_ENST00000414241.3_Missense_Mutation_p.G106C	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	107					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAATTTGGAGGTTTTGGTTC	0.368000													9	25					3.09899e-07	3.63227e-07	1	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45556204G>A	ENST00000588982.1	-	4	1788	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZBTB7C_ENST00000586438.1_Silent_p.F429F|ZBTB7C_ENST00000535628.2_Silent_p.F429F|ZBTB7C_ENST00000590800.1_Silent_p.F429F|ZBTB7C_ENST00000332053.2_Silent_p.F429F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592000													17	23					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877635	96877635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:96877635C>T	ENST00000394166.3	+	2	2162	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NR2F2_ENST00000421109.2_Missense_Mutation_p.A125V|NR2F2_ENST00000453270.2_Missense_Mutation_p.A105V|NR2F2_ENST00000394171.2_Missense_Mutation_p.A105V	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	258	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTGAATGCGGCGCAGTGCTCC	0.677000													13	19					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48498762	48498762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48498762C>A	ENST00000412052.1	+	5	958	c.496C>A	c.(496-498)Ctt>Att	p.L166I	ATRIP_ENST00000357105.6_Missense_Mutation_p.L132I|ATRIP_ENST00000320211.3_Missense_Mutation_p.L259I|ATRIP_ENST00000346691.4_Missense_Mutation_p.L259I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	259					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACATGTCCCTTCCCCACCC	0.438000								Other conserved DNA damage response genes					4	28					0.00909568	0.00947522	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125746809	125746809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125746809G>T	ENST00000373647.4	+	3	330	c.196G>T	c.(196-198)Gat>Tat	p.D66Y		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	66					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAGCTAGCAGATGTACTGAT	0.458000													4	29					0.00909568	0.00947522	1	1	0
KLK1	3816	broad.mit.edu	37	19	51323632	51323632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51323632C>T	ENST00000301420.2	-	3	309	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	92	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCACTGACATGAACAAAC	0.552000													63	124					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863244	56863244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56863244G>T	ENST00000338146.5	+	2	582	c.507G>T	c.(505-507)caG>caT	p.Q169H		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	169	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGTGAGCCAGGTCTCTGTGG	0.592000													20	49					6.33239e-15	8.10486e-15	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111595639	111595639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111595639G>A	ENST00000261486.5	-	8	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AACACCAACCGGAGTTAATCC	0.363000													34	56					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46961979	46961979	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46961979C>T	ENST00000374323.3	-	7	2003	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SYT15_ENST00000374321.4_Silent_p.T419T|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	419						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTCAGGGCTCCGTGGTGCGGC	0.637000													7	130					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508123	14508123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14508123C>A	ENST00000454876.2	+	7	1161	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L278M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	278					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAAGTTCTATCTGTATCCTGA	0.637000													4	56					5.9392e-07	6.91975e-07	1	1	0
MICALL1	85377	broad.mit.edu	37	22	38333770	38333770	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38333770A>C	ENST00000215957.6	+	15	2567	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	814						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAAGACAAGATGTTGGAA	0.547000													51	106					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193166	104193166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104193166C>T	ENST00000374855.4	-	2	128	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	2					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AATCGGTGGGCCATGGTGACA	0.547000													6	17					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696336	7696336	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696336G>T	ENST00000572933.1	+	48	8842	c.7382G>T	c.(7381-7383)aGg>aTg	p.R2461M	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2461M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2461	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGAGAGCAGGGTTGAGAAG	0.498000													22	40					7.88262e-20	1.03296e-19	1	1	0
PIK3R1	5295	broad.mit.edu	37	5	67592152	67592152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:67592152C>A	ENST00000521381.1	+	15	2584	c.1968C>A	c.(1966-1968)tgC>tgA	p.C656*	PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.C356*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.C664*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.C386*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.C293*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	656	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AACAGGGCTGCTATGCCTGCT	0.438000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			7	105					8.12818e-05	8.99451e-05	1	1	0
GLUD1	2746	broad.mit.edu	37	10	88811578	88811578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811578G>A	ENST00000277865.4	-	13	1703	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	GLUD1_ENST00000537649.1_Missense_Mutation_p.T369I|GLUD1_ENST00000544149.1_Missense_Mutation_p.T403I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	536					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATAGGCAGCTGTTCTCAGGTC	0.438000													41	82					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8504272	8504272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8504272G>A	ENST00000381196.4	-	20	2354	c.1811C>T	c.(1810-1812)aCc>aTc	p.T604I	PTPRD_ENST00000356435.5_Missense_Mutation_p.T604I|PTPRD_ENST00000355233.5_Missense_Mutation_p.T604I|PTPRD_ENST00000397606.3_Missense_Mutation_p.T594I|PTPRD_ENST00000397617.3_Missense_Mutation_p.T594I|PTPRD_ENST00000540109.1_Missense_Mutation_p.T604I|PTPRD_ENST00000397611.3_Missense_Mutation_p.T601I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T591I|PTPRD_ENST00000537002.1_Missense_Mutation_p.T601I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T591I|PTPRD_ENST00000486161.1_Missense_Mutation_p.T604I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	604	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACTGCATGGTTCTAGCTGA	0.473000										TSP Lung(15;0.13)			4	81					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25497902	25497902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25497902G>A	ENST00000264709.3	-	6	884	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R183W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	183					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGGGCCGCTGACGGAGG	0.672000			"""Mis, F, N, S"""		AML								9	7					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948395	63948395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63948395G>A	ENST00000443617.2	-	49	9849	c.9762C>T	c.(9760-9762)agC>agT	p.S3254S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3254					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTTAGCCTTGCTATGCCCAC	0.532000													6	8					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451833	77451833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77451833C>T	ENST00000308488.6	-	4	823	c.521G>A	c.(520-522)aGa>aAa	p.R174K	RSF1_ENST00000360355.2_Missense_Mutation_p.R143K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	174					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TATGTACATTCTGACATTGTG	0.393000													5	88					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86701913	86701913	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86701913A>G	ENST00000409556.1	+	13	2104	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	KDM3A_ENST00000409064.1_Missense_Mutation_p.K580R|KDM3A_ENST00000542128.1_Missense_Mutation_p.K528R|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580R|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	580					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAACAAACATGGTGTG	0.408000													38	60					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495419	161495419	+	Missense_Mutation	SNP	G	G	A	rs144281379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161495419G>A	ENST00000309758.4	+	1	1384	c.971G>A	c.(970-972)cGg>cAg	p.R324Q		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	324					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCCCTGCGGGATGCCAAG	0.612000													9	15					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79443936	79443936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443936C>T	ENST00000264895.6	+	69	11222	c.10782C>T	c.(10780-10782)ctC>ctT	p.L3594L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3589					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACATCAACTCTGGAGAGCCA	0.433000													4	14					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136076622	136076622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136076622G>A	ENST00000383202.2	-	28	3261	c.3005C>T	c.(3004-3006)gCt>gTt	p.A1002V	STAG1_ENST00000236698.5_Missense_Mutation_p.A1002V|STAG1_ENST00000536929.1_Missense_Mutation_p.A586V|STAG1_ENST00000434713.2_Missense_Mutation_p.A742V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1002					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAAGAAAAGCCAGATTAGG	0.323000													8	58					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065545	1065545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1065545G>A	ENST00000264930.5	-	18	2333	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	764					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAGACCACCAGCTGGCAGAAG	0.632000													25	27					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528876	75528876	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75528876A>C	ENST00000339365.2	+	18	2552	c.2390A>C	c.(2389-2391)gAt>gCt	p.D797A	SEC24C_ENST00000411652.2_Missense_Mutation_p.D678A|SEC24C_ENST00000345254.4_Missense_Mutation_p.D797A|SEC24C_ENST00000535742.1_Missense_Mutation_p.D45A|SEC24C_ENST00000540668.1_Missense_Mutation_p.D45A|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	797					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAGCATGACGATCGGCTCAAT	0.542000													5	22					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29283406	29283406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29283406C>A	ENST00000330889.3	+	10	1365	c.1030C>A	c.(1030-1032)Ccc>Acc	p.P344T	ADAP2_ENST00000580525.1_Missense_Mutation_p.P350T|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	344	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACTTGCCCCAGTGAGAA	0.562000													10	33					3.86212e-05	4.30401e-05	1	1	0
LRP2	4036	broad.mit.edu	37	2	170103217	170103217	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170103217A>T	ENST00000263816.3	-	21	3473	c.3188T>A	c.(3187-3189)cTt>cAt	p.L1063H	LRP2_ENST00000443831.1_Missense_Mutation_p.L926H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1063					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTTACTAAGTGTGCCACA	0.398000													83	122					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626689	50626689	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626689A>G	ENST00000216373.5	-	10	1586	c.1312T>C	c.(1312-1314)Tgt>Cgt	p.C438R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.C405R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	438					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATTACAACACTGTCCAATA	0.353000													7	154					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645338	98645338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98645338C>T	ENST00000361125.1	-	11	1518	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	SMURF1_ENST00000361368.2_Missense_Mutation_p.R374H|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	400					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CACTTCGATGCGGCAATGACC	0.498000													64	62					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102265250	102265250	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102265250G>T	ENST00000370345.3	-	10	1144	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	SEC31B_ENST00000451524.1_Silent_p.I349I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	349					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGAAGAGGAGATCTGGGGGG	0.532000													5	75					1.23904e-05	1.39987e-05	1	1	0
FBXO42	54455	broad.mit.edu	37	1	16641705	16641705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16641705G>A	ENST00000375592.3	-	2	425	c.209C>T	c.(208-210)aCt>aTt	p.T70I	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	70	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGGGCCGCAGTTTTGTGTTC	0.413000													36	48					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579889	2579889	+	Missense_Mutation	SNP	C	C	A	rs138622703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579889C>A	ENST00000397195.5	+	9	1442	c.991C>A	c.(991-993)Ctt>Att	p.L331I	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	331	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGCATGTGCCTTATGACCCT	0.363000													7	71					0.00198382	0.00210581	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99941132	99941132	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99941132G>T	ENST00000455616.1	-	14	1650	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	SYTL4_ENST00000276141.6_Missense_Mutation_p.S435Y|SYTL4_ENST00000263033.5_Missense_Mutation_p.S435Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.S437Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.S435Y|SYTL4_ENST00000372981.1_3'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	435	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCAGGAGAGATTCTGGGAT	0.458000													6	10					0.0293803	0.0301098	1	1	0
GYS1	2997	broad.mit.edu	37	19	49496323	49496323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49496323T>C	ENST00000323798.3	-	1	243	c.47A>G	c.(46-48)gAg>gGg	p.E16G	GYS1_ENST00000540532.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.E16G|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000541188.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	16					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCCAGTCCTCCAGTCCTGG	0.627000											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	96					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216293036	216293036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216293036C>A	ENST00000354785.4	-	6	1080	c.711G>T	c.(709-711)agG>agT	p.R237S	FN1_ENST00000359671.1_Missense_Mutation_p.R237S|FN1_ENST00000443816.1_Missense_Mutation_p.R237S|FN1_ENST00000432072.2_Missense_Mutation_p.R237S|FN1_ENST00000421182.1_Missense_Mutation_p.R237S|FN1_ENST00000356005.4_Missense_Mutation_p.R237S|FN1_ENST00000336916.4_Missense_Mutation_p.R237S|FN1_ENST00000446046.1_Missense_Mutation_p.R237S|FN1_ENST00000426059.1_Missense_Mutation_p.R237S|FN1_ENST00000323926.6_Missense_Mutation_p.R237S|FN1_ENST00000345488.5_Missense_Mutation_p.R237S|FN1_ENST00000357009.2_Missense_Mutation_p.R237S|FN1_ENST00000346544.3_Missense_Mutation_p.R237S|FN1_ENST00000357867.4_Missense_Mutation_p.R237S			P02751	FINC_HUMAN	fibronectin 1	237	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGATGTCCTTGTGTCCT	0.468000													19	37					5.26018e-13	6.65277e-13	1	1	0
SNHG14	0	broad.mit.edu	37	15	25325314	25325314	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25325314C>T	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							TCCATATATACATTCCTTGGA	0.433000													9	155					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932767	155932767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932767C>T	ENST00000368316.1	-	12	1318	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R310Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R312Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R311Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	311	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACAAAGTTCCGGGTGCTGCC	0.597000													18	40					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083694	42083694	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42083694A>G	ENST00000187608.9	+	2	247	c.207A>G	c.(205-207)aaA>aaG	p.K69K	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Silent_p.K69K	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	69						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCTGGTACAAAGGGAAAACGG	0.483000													4	35					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169195159	169195159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169195159C>A	ENST00000393743.3	-	17	2671	c.2380G>T	c.(2380-2382)Gcc>Tcc	p.A794S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	794	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGTAGGAGGCATAGGTTTTG	0.498000													33	50					7.16026e-08	8.49752e-08	1	1	0
CSPG5	10675	broad.mit.edu	37	3	47618449	47618449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47618449C>T	ENST00000383738.2	-	2	3165	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CSPG5_ENST00000456150.1_Missense_Mutation_p.G218D|CSPG5_ENST00000264723.4_Missense_Mutation_p.G356D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	356					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTCAGTGCCATTTTCACT	0.642000													9	95					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69075205	69075205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69075205C>T	ENST00000543976.1	-	14	3056	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R934H|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	934					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGAACTTGAGCGTGACATGGT	0.358000													13	27					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119419070	119419070	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119419070C>A	ENST00000371369.4	-	6	650	c.423_splice	c.e6-1	p.V142_splice	TMEM255A_ENST00000309720.5_Splice_Site_p.V166_splice|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Splice_Site_p.V2_splice	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		GGGCAGTTAACCTGACGGTAT	0.517000													13	129					0.0135373	0.0140872	1	1	0
USP36	57602	broad.mit.edu	37	17	76825052	76825052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76825052C>A	ENST00000312010.6	-	5	837	c.513G>T	c.(511-513)caG>caT	p.Q171H	USP36_ENST00000590546.2_Missense_Mutation_p.Q171H|USP36_ENST00000542802.2_Missense_Mutation_p.Q171H|USP36_ENST00000589424.1_Missense_Mutation_p.Q171H	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	171					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGTTCTGCATGACAC	0.512000													27	23					3.73148e-12	4.68205e-12	1	1	0
BHMT2	23743	broad.mit.edu	37	5	78379191	78379191	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78379191C>A	ENST00000255192.3	+	6	841	c.775C>A	c.(775-777)Ccc>Acc	p.P259T	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.P195T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	259	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCAGAATATCCCTTTGGTAA	0.488000													6	33					1	1	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118556656	118556656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556656A>G	ENST00000311085.8	+	36	8174	c.8094A>G	c.(8092-8094)atA>atG	p.I2698M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2719M|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTGGTTATACATGCTCGTG	0.353000													23	47					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612540	79612540	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79612540C>T	ENST00000328585.4	+	0	649				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCACACCCTGCGTGTGGCCAT	0.687000													3	2					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990304	127990304	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127990304C>T	ENST00000373538.3	+	6	952	c.642C>T	c.(640-642)gaC>gaT	p.D214D	RABEPK_ENST00000394125.4_Silent_p.D214D|RABEPK_ENST00000259460.8_Silent_p.D163D|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	214					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGCGGGGGACAGATTCTATG	0.453000													3	20					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725991	4725991	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4725991C>T	ENST00000263088.6	+	25	2765	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	PLD2_ENST00000572940.1_Silent_p.Y867Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	878					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCCGGGAGTACGTGGCCGTGG	0.657000													38	41					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189404	26189404	+	Silent	SNP	C	C	T	rs146789461	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189404C>T	ENST00000374296.3	-	2	1593	c.927G>A	c.(925-927)acG>acA	p.T309T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	309					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCAGTGCGTGTGCAGAG	0.577000													15	33					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049682	58049682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049682G>A	ENST00000376233.3	+	4	1491	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	ZNF549_ENST00000240719.3_Missense_Mutation_p.R424K|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACCAGAGAATTCATACT	0.433000													23	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179658255	179658255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179658255G>A	ENST00000589042.1	-	9	1636	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TTN_ENST00000460472.2_Missense_Mutation_p.A471V|TTN_ENST00000360870.5_Missense_Mutation_p.A471V|TTN_ENST00000342992.6_Missense_Mutation_p.A471V|TTN_ENST00000359218.5_Missense_Mutation_p.A471V|TTN_ENST00000342175.6_Missense_Mutation_p.A471V|TTN_ENST00000591111.1_Missense_Mutation_p.A471V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	471							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGCTTCCTTTCT	0.393000													20	64					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804856	89804856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89804856A>G	ENST00000310775.7	+	5	415	c.329A>G	c.(328-330)aAt>aGt	p.N110S	FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.N110S|FANCI_ENST00000300027.8_Missense_Mutation_p.N110S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	110					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATTAGCCAATGAGTTTATT	0.383000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	164					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060347	46060347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46060347C>A	ENST00000295452.4	-	7	970	c.803G>T	c.(802-804)aGa>aTa	p.R268I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	268					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCCCATTCTTCTGCTCAGGTC	0.318000													20	39					6.44725e-10	7.89499e-10	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21654888	21654888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21654888C>T	ENST00000328843.6	+	21	4040	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1337*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTATGTTCGAGTAAGATG	0.333000									Kartagener syndrome				32	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576705	179576705	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179576705T>C	ENST00000589042.1	-	96	28076	c.27852A>G	c.(27850-27852)ggA>ggG	p.G9284G	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G8040G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G8967G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8967	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAACTTCTCCCACGCTGT	0.343000													11	92					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508951	219508951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508951G>T	ENST00000411696.2	-	7	3067	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.S763Y			P52746	ZN142_HUMAN	zinc finger protein 142	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGGCTCAGACACTGGCTT	0.522000													47	80					5.7616e-29	7.70675e-29	1	1	0
SLC12A6	9990	broad.mit.edu	37	15	34531196	34531196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34531196C>T	ENST00000354181.3	-	20	3094	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SLC12A6_ENST00000451844.2_Missense_Mutation_p.E680K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E853K|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E680K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E859K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E817K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	868					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E859K(1)|p.E817K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGGGCATCTTCGCTTTGACGC	0.517000													86	138					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350202	89350202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350202G>T	ENST00000301030.4	-	9	3208	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N916K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	916	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCTCAGAGTTTTTATCCA	0.552000													39	66					1.47244e-24	1.95393e-24	1	1	0
MUC4	4585	broad.mit.edu	37	3	195474116	195474116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195474116G>T	ENST00000463781.3	-	25	16629	c.16170C>A	c.(16168-16170)gtC>gtA	p.V5390V	MUC4_ENST00000349607.4_Silent_p.V1103V|MUC4_ENST00000475231.1_Silent_p.V5338V|MUC4_ENST00000346145.4_Silent_p.V1154V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGCGCAGGACCACGAACG	0.612000													8	132					0.000157383	0.00017284	1	1	0
C1QA	712	broad.mit.edu	37	1	22965859	22965859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965859G>A	ENST00000374642.3	+	3	901	c.697G>A	c.(697-699)Gac>Aac	p.D233N	C1QA_ENST00000402322.1_Missense_Mutation_p.D233N	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	233	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTGAGGCCGACAGCGTCTT	0.597000													14	15					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483422	32483422	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483422G>A	ENST00000359872.6	-	1	891	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	44					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGCCCACAGCACACGCCGG	0.592000													14	29					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986473	47986473	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47986473C>A	ENST00000338134.3	-	4	502		c.e4-1		KPTN_ENST00000536339.1_Splice_Site|KPTN_ENST00000595484.1_Splice_Site	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGCAGCTCTCTGTAGGCAGG	0.602000													51	124					4.86159e-25	6.45825e-25	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17051820	17051820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:17051820A>G	ENST00000418129.2	+	2	1069	c.604A>G	c.(604-606)Aag>Gag	p.K202E	PLCL2_ENST00000432376.1_Missense_Mutation_p.K202E|PLCL2_ENST00000396755.2_Missense_Mutation_p.K202E|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	328	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAGGTCACAAAGGAAGAATT	0.333000													6	75					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228205057	228205057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228205057C>T	ENST00000353339.3	+	6	920	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_Missense_Mutation_p.A5V|MFF_ENST00000337110.7_Missense_Mutation_p.A134V|MFF_ENST00000392059.1_Missense_Mutation_p.A160V|MFF_ENST00000349901.7_Missense_Mutation_p.A134V|MFF_ENST00000409565.1_Missense_Mutation_p.A134V|MFF_ENST00000304593.9_Missense_Mutation_p.A134V|MFF_ENST00000354503.6_Missense_Mutation_p.A134V|MFF_ENST00000409616.1_Missense_Mutation_p.A134V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	160						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGTGAAAATGCTGTTCGCCAA	0.403000													11	22					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850499	58850499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58850499G>T	ENST00000329665.4	+	3	1430	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	428					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CGACATCTGAGAATCCACTCT	0.572000													29	43					5.45727e-16	7.024e-16	1	1	0
BRAF	673	broad.mit.edu	37	7	140508788	140508788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140508788G>T	ENST00000288602.6	-	4	572	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	171	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCACACCTTGCAGGTACCTA	0.348000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	76					0.000586117	0.000636007	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42838210	42838210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42838210G>A	ENST00000334370.4	+	3	1038	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	MEGF8_ENST00000251268.6_Missense_Mutation_p.A135T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	135	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCTTTAACGCCTCATTCCG	0.652000													7	17					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39706228	39706228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39706228G>A	ENST00000361337.2	+	5	536	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	96	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.A96S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCAGGTTCGAGCCTCTGGGGA	0.438000			T	NUP98	AML*								4	93					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34684349G>A	ENST00000488417.1	+	7	1904	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	405							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507000													27	39					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118367	106118367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106118367C>T	ENST00000369704.3	+	2	412	c.278C>T	c.(277-279)gCa>gTa	p.A93V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	93										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACCACCATTGCATCCCTAAAG	0.428000													22	36					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460977	160460977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160460977C>T	ENST00000368059.3	-	3	653	c.584G>A	c.(583-585)tGc>tAc	p.C195Y	SLAMF6_ENST00000368055.1_Missense_Mutation_p.C84Y|SLAMF6_ENST00000368057.3_Missense_Mutation_p.C195Y	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	195	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTGCTATGCAGGTGTAGTC	0.512000													33	52					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270966	125270966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125270966G>A	ENST00000339570.5	-	11	1534	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	SCARB1_ENST00000544327.1_Silent_p.Y392Y|SCARB1_ENST00000541205.1_Silent_p.Y405Y|SCARB1_ENST00000540495.1_Silent_p.Y409Y|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000415380.2_Silent_p.Y446Y|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Silent_p.Y346Y|SCARB1_ENST00000261693.6_Silent_p.Y446Y	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	446					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCAGGAGGACGTACTGGGCAT	0.612000													29	38					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42840048	42840048	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42840048T>C	ENST00000432191.2	+	11	1306	c.1234T>C	c.(1234-1236)Ttg>Ctg	p.L412L	PPHLN1_ENST00000256678.8_Silent_p.L341L|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Silent_p.L436L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	436					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		tccagaaaatttgttccttgc	0.478000													11	24					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472781	46472781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46472781C>T	ENST00000328306.4	-	16	1894	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	623					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGCGGGGAGCGTGGTGGTTA	0.498000													6	74					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44145044	44145044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44145044G>A	ENST00000398776.1	+	12	1341	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	CAPN11_ENST00000542245.1_Missense_Mutation_p.A435T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	435	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGGATGACGCAGAGGGCAA	0.597000													8	19					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849975	73849975	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73849975T>A	ENST00000523207.1	+	3	2973	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	795					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AACTGTTCCCTTTCTCTTCAA	0.552000													5	43					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281508	42281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42281508G>A	ENST00000282030.5	+	2	493	c.197G>A	c.(196-198)gGg>gAg	p.G66E	SETBP1_ENST00000426838.4_Missense_Mutation_p.G66E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	66						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGGCTCAGGGCGGGATGTG	0.562000									Schinzel-Giedion syndrome				18	34					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034284	46034284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46034284T>C	ENST00000372070.3	+	7	1427	c.680T>C	c.(679-681)gTc>gCc	p.V227A	AKR1A1_ENST00000351829.4_Missense_Mutation_p.V227A	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	227					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GATGAGCCTGTCCTGCTGGAG	0.557000													20	30					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923638	78923638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78923638G>T	ENST00000261751.3	-	3	352	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	CHRNB4_ENST00000412074.2_Missense_Mutation_p.L81M|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	81					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCTGTTTCAGCCAGACATTG	0.552000													32	39					4.65686e-17	6.02554e-17	1	1	0
THBS2	7058	broad.mit.edu	37	6	169637723	169637723	+	Missense_Mutation	SNP	G	G	A	rs148970069	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169637723G>A	ENST00000366787.3	-	9	1546	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	433					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACTCACTGCGGGTGTCACAC	0.647000													5	46					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48664488	48664488	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48664488C>A	ENST00000258648.2	-	2	217	c.192_splice	c.e2+1	p.Q64_splice	MED4_ENST00000378586.1_Splice_Site_p.Q18_splice	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	64					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AGCCACTTACCTGGTTTTCCT	0.294000													11	181					0.000673444	0.000724755	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109794125	109794125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794125G>A	ENST00000271332.3	+	1	1485	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	475	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACGGGTGCGAGCACAGGAT	0.557000													28	279					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144764824	144764824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144764824G>T	ENST00000409214.1	-	7	1078	c.800C>A	c.(799-801)aCt>aAt	p.T267N	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392867.3_Missense_Mutation_p.T267N|GTDC1_ENST00000344850.4_Missense_Mutation_p.T267N|GTDC1_ENST00000241391.5_Missense_Mutation_p.T267N|GTDC1_ENST00000542155.1_Missense_Mutation_p.T267N|GTDC1_ENST00000463875.2_Missense_Mutation_p.T138N|GTDC1_ENST00000392869.1_Missense_Mutation_p.T267N	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	267					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGATCAACAGTCAGATTTTG	0.398000													11	50					2.68362e-12	3.37045e-12	1	1	0
FADS2	9415	broad.mit.edu	37	11	61608110	61608110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608110G>T	ENST00000278840.4	+	4	1161	c.531G>T	c.(529-531)tgG>tgT	p.W177C	FADS2_ENST00000257261.6_Missense_Mutation_p.W155C|FADS2_ENST00000522056.1_Missense_Mutation_p.W146C|FADS2_ENST00000521849.1_Missense_Mutation_p.W177C	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	177					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGCTGGATGGCTGCAACATG	0.542000													51	92					1.72184e-34	2.31481e-34	1	1	0
BPTF	2186	broad.mit.edu	37	17	65978371	65978371	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65978371T>A	ENST00000321892.4	+	30	9169	c.9108T>A	c.(9106-9108)tcT>tcA	p.S3036S	BPTF_ENST00000335221.5_Silent_p.S2893S|BPTF_ENST00000306378.6_Silent_p.S2910S|BPTF_ENST00000424123.3_Silent_p.S2754S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3036					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTAGGTCTCATAACAACA	0.368000													21	20					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619372	68619372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619372C>T	ENST00000229134.4	-	1	229	c.165G>A	c.(163-165)acG>acA	p.T55T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	55					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGGAATCGTTGCTTTGA	0.408000													68	119					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29383270	29383270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29383270G>T	ENST00000320081.5	+	12	1726	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	CLIP4_ENST00000401605.1_Missense_Mutation_p.V491L|CLIP4_ENST00000401617.2_Missense_Mutation_p.V384L|CLIP4_ENST00000404424.1_Missense_Mutation_p.V491L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	491										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGGAGAGAGAGTGTTAGTGGT	0.468000													6	82					1.06961e-07	1.26574e-07	1	1	0
OR2V2	285659	broad.mit.edu	37	5	180582541	180582541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180582541T>C	ENST00000328275.1	+	1	599	c.599T>C	c.(598-600)aTa>aCa	p.I200T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGGTGATATTTGCTTGC	0.483000													77	98					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45440173	45440173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45440173G>T	ENST00000321429.4	+	21	3027	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	DUOX1_ENST00000389037.3_Missense_Mutation_p.D874Y|DUOX1_ENST00000561166.1_Missense_Mutation_p.D520Y	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	874	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTTCCAAGGATGAGTTCAT	0.537000													27	68					7.76418e-22	1.02329e-21	1	1	0
KCMF1	56888	broad.mit.edu	37	2	85280333	85280333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85280333G>A	ENST00000409785.3	+	7	1306	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	316						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CGTGCAGACCGCAGCCTGTTT	0.468000													11	16					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028547	97028547	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97028547G>T	ENST00000329399.6	-	3	429	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	107					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGGTTCAGAGGCTAAATTCA	0.488000													10	61					1.58986e-06	1.84011e-06	1	1	0
MCAT	27349	broad.mit.edu	37	22	43529484	43529484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529484C>T	ENST00000327555.5	-	3	535	c.520G>A	c.(520-522)Gtt>Att	p.V174I	MCAT_ENST00000290429.5_Silent_p.R246R	NM_014507.3	NP_055322.1	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	0					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCTGGAGAAACCGTAGAGCCT	0.552000													5	10					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26715466	26715466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26715466G>A	ENST00000457710.3	+	7	2200	c.1729G>A	c.(1729-1731)Gtc>Atc	p.V577I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	611	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATCCAGAGTGTCATGGGTGC	0.527000													31	64					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37985945	37985945	+	Silent	SNP	C	C	T	rs145960167	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37985945C>T	ENST00000343823.6	+	11	1611	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	ASH2L_ENST00000545394.1_Silent_p.T295T|ASH2L_ENST00000250635.7_Silent_p.T340T|ASH2L_ENST00000428278.2_Silent_p.T340T|ASH2L_ENST00000521652.1_Silent_p.T340T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	434	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CACCAGATACCGCTGCCAGAC	0.532000													14	25					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565075	31565075	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31565075T>G	ENST00000379416.3	-	32	3541	c.3493A>C	c.(3493-3495)Atc>Ctc	p.I1165L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1165					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCAGTCGATTTCTACTTCA	0.448000													9	73					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679381	219679381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679381G>A	ENST00000258415.4	+	8	1804	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	459					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTACCCCCAGGATCCAGCACC	0.632000													13	26					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617885	156617885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156617885A>G	ENST00000329117.4	+	5	1088	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	BCAN_ENST00000361588.5_Missense_Mutation_p.Y251C|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	251	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTACTGTTATGCTGAAGAC	0.567000													6	115					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956129	48956129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48956129C>T	ENST00000253237.5	+	7	1421	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	396						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGAGGCCGACCCCGGAC	0.701000													9	23					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92769570	92769570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92769570G>A	ENST00000370343.3	+	4	380	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	91						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGTGATGTCGTGGATGAACG	0.348000													6	84					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153592950	153592950	+	Missense_Mutation	SNP	G	G	T	rs137853311		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592950G>T	ENST00000422373.1	-	13	2214	c.1966C>A	c.(1966-1968)Ctc>Atc	p.L656I	FLNA_ENST00000344736.4_Missense_Mutation_p.L656I|FLNA_ENST00000360319.4_Missense_Mutation_p.L656I|FLNA_ENST00000369850.3_Missense_Mutation_p.L656I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	656			L -> F (in PVNH1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGAGGCGGATGTCT	0.622000													15	33					1.3612e-06	1.57881e-06	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960018	73960018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960018T>G	ENST00000373468.1	-	3	5025	c.4374A>C	c.(4372-4374)agA>agC	p.R1458S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1458S			Q5QGS0	K2022_HUMAN	KIAA2022	1458					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTCATCTCTCAGGGCCT	0.433000													7	93					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	3018748	3018748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3018748A>G	ENST00000216877.6	+	23	2751	c.2351A>G	c.(2350-2352)gAt>gGt	p.D784G	PTPRA_ENST00000358719.4_Missense_Mutation_p.D649G|PTPRA_ENST00000356147.3_Missense_Mutation_p.D784G|PTPRA_ENST00000380393.3_Missense_Mutation_p.D793G|PTPRA_ENST00000425918.2_Missense_Mutation_p.D804G|PTPRA_ENST00000399903.2_Missense_Mutation_p.D793G|PTPRA_ENST00000318266.5_Missense_Mutation_p.D784G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	793	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGTATATTGATGCATTCTCA	0.413000													9	37					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239577	125239577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125239577G>A	ENST00000259357.2	-	1	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCACAGGAATGGAAGCATAAT	0.493000													7	46					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51695675	51695675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51695675G>A	ENST00000371117.3	-	52	8561	c.8286C>T	c.(8284-8286)gaC>gaT	p.D2762D	PKHD1_ENST00000340994.4_Silent_p.D2762D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2762	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGAGAACGTCATCCCCAG	0.453000													33	37					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14200186	14200186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14200186G>A	ENST00000285021.7	-	9	1411	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	XPC_ENST00000449060.2_Silent_p.S362S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	399					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCCTCGCTGGAGGAGG	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				52	71					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100104859	100104859	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100104859G>A	ENST00000372966.3	-	10	1403	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	NOX1_ENST00000217885.5_Silent_p.L400L|NOX1_ENST00000372960.4_Silent_p.L363L|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	400	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCTCCAACCAGCACAGCCACT	0.478000													4	35					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30939842	30939842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30939842C>A	ENST00000338343.4	+	6	1069	c.682C>A	c.(682-684)Ctc>Atc	p.L228I	FBXL19_ENST00000380310.2_Missense_Mutation_p.L248I|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Missense_Mutation_p.L228I			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	248	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCTGCCTCCTCCGAGGATC	0.642000													4	28					0.150653	0.152692	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55265611	55265611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55265611G>A	ENST00000381298.2	-	4	449	c.137C>T	c.(136-138)gCa>gTa	p.A46V	IL6ST_ENST00000336909.5_Missense_Mutation_p.A46V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.A46V|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.A46V|IL6ST_ENST00000502326.3_Missense_Mutation_p.A46V|IL6ST_ENST00000381294.3_Missense_Mutation_p.A46V|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.A46V|IL6ST_ENST00000381293.2_Missense_Mutation_p.A46V	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	46	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CACACAAACTGCAGTGAAATT	0.308000			O		hepatocellular ca								27	48					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59057241	59057241	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59057241G>A	ENST00000253024.5	+	3	853	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	188	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTACACCAAGGACCATACTG	0.557000													15	46					0	0	1	0	0
PLD3	0	broad.mit.edu	37	19	40876110	40876110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40876110G>A	ENST00000409587.1	+	8	1041	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PLD3_ENST00000409735.4_Missense_Mutation_p.G215D|PLD3_ENST00000356508.5_Missense_Mutation_p.G215D|PLD3_ENST00000409281.1_Missense_Mutation_p.G215D|PLD3_ENST00000409419.1_Missense_Mutation_p.G215D			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	215	PLD phosphodiesterase 1.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTACCTGGGCAGTGCCAAC	0.622000													5	34					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699770	75699770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75699770C>T	ENST00000370855.5	-	12	867	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A252T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A122T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	252						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGACCATGGCAATCGTCAGG	0.388000													28	40					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144465101	144465101	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144465101A>T	ENST00000283131.3	+	16	2610	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	716					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTTCGAAGGAGAAGACTATA	0.333000													10	79					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71686719	71686719	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71686719T>C	ENST00000393524.2	-	16	3323	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	PHLPP2_ENST00000567016.1_Missense_Mutation_p.K966E|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000540628.1_Missense_Mutation_p.K141E|PHLPP2_ENST00000568954.1_Missense_Mutation_p.K931E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	931	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTTTGGTCCTTCACCCTTTGA	0.572000													4	68					0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13681173	13681173	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13681173C>T	ENST00000380600.1	+	2	633	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TCEANC_ENST00000314720.4_Silent_p.Y212Y|TCEANC_ENST00000544987.1_Silent_p.Y182Y|TCEANC_ENST00000545566.1_Silent_p.Y182Y|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	182	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTTTACGCAGCTTTAA	0.423000													16	131					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67137651	67137651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67137651G>A	ENST00000371037.4	+	11	610	c.533G>A	c.(532-534)cGt>cAt	p.R178H	SGIP1_ENST00000371035.3_Missense_Mutation_p.R135H|SGIP1_ENST00000371036.3_Missense_Mutation_p.R145H|SGIP1_ENST00000371039.1_Missense_Mutation_p.R146H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R182H|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	178	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGACCCAGGCGTTCCACACCA	0.378000													15	14					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673090	186673090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:186673090G>A	ENST00000343098.5	+	17	19324	c.19324G>A	c.(19324-19326)Gcc>Acc	p.A6442T	FSIP2_ENST00000424728.1_Missense_Mutation_p.A6353T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTGTTGGCCTTGTTCTT	0.338000													9	28					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167836972	167836972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167836972C>T	ENST00000265293.4	+	8	1415	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	WWC1_ENST00000521089.1_Missense_Mutation_p.R305C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	305					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTCAGATTGCGCCTTCGATA	0.483000													23	34					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158034	26158034	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26158034A>G	ENST00000325250.1	+	2	1119	c.932A>G	c.(931-933)gAa>gGa	p.E311G		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	311							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGGATGAGGAACAGAGAACC	0.512000													4	13					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11374418	11374418	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11374418C>A	ENST00000528848.2	-	1	486	c.249G>T	c.(247-249)aaG>aaT	p.K83N	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		TCTCCAAAATCTTTATTTCAC	0.373000													51	90					7.59065e-32	1.01804e-31	1	1	0
AMER1	139285	broad.mit.edu	37	X	63410130	63410130	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410130G>T	ENST00000330258.3	-	2	3309	c.3037C>A	c.(3037-3039)Cct>Act	p.P1013T	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GATTCCCCAGGTGCCCTTGAC	0.567000													14	17					1.05317e-09	1.28483e-09	1	1	0
VEZT	55591	broad.mit.edu	37	12	95676134	95676134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95676134C>T	ENST00000436874.1	+	8	1147	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	VEZT_ENST00000261219.6_Missense_Mutation_p.R300W|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCTTCAGACGGTTAGCCCT	0.408000													15	46					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465943	103465943	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103465943C>T	ENST00000361246.2	-	5	843	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	185	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAATGGCCAGCACCATTTCAC	0.428000													34	44					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16671615	16671615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16671615C>A	ENST00000513610.1	-	38	5800	c.5346G>T	c.(5344-5346)tgG>tgT	p.W1782C	MYO10_ENST00000505695.1_Missense_Mutation_p.W1121C|MYO10_ENST00000515803.1_Missense_Mutation_p.W1121C|MYO10_ENST00000274203.9_Missense_Mutation_p.W1139C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1139C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1782	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTAGAATTTCCATGGCAGGT	0.483000													13	25					4.3838e-07	5.12524e-07	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812999	1812999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1812999C>A	ENST00000250894.4	+	16	2044	c.1887C>A	c.(1885-1887)ttC>ttA	p.F629L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.F623L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	629					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAATTCTTCCCTGACGAGT	0.652000													5	45					1	1	1	1	0
SLA2	84174	broad.mit.edu	37	20	35262913	35262913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35262913C>T	ENST00000262866.4	-	3	593	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLA2_ENST00000360672.2_Silent_p.E57E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	57	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGTCAATGGCTCCCCGAGTC	0.582000													7	19					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508878	161508878	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508878G>A	ENST00000392142.4	+	10	2863	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MAP3K4_ENST00000366919.2_Silent_p.K905K|MAP3K4_ENST00000348824.7_Silent_p.K905K|MAP3K4_ENST00000366920.2_Silent_p.K905K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	905					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCTGACCAAGCACGGTGATC	0.507000													4	50					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43902861	43902861	+	Missense_Mutation	SNP	C	C	A	rs138657693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43902861C>A	ENST00000562955.1	+	42	5883	c.5883C>A	c.(5881-5883)agC>agA	p.S1961R	SZT2_ENST00000372442.1_Missense_Mutation_p.S1119R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2018						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGATGAGAGCTGTGCGCCCC	0.577000													41	64					1.7489e-18	2.28119e-18	1	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286804	11286804	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11286804C>A	ENST00000539585.1	-	1	439	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATATAACCACTATTAGAATG	0.328000													10	20					5.50884e-06	6.28354e-06	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60879033	60879033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60879033G>A	ENST00000544856.2	-	3	442	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MARCH10_ENST00000311269.5_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.Q22*			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACCTTATGCTGCATGTCCCGC	0.438000													61	79					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6640080	6640080	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640080G>A	ENST00000299427.6	-	3	216	c.156C>T	c.(154-156)gcC>gcT	p.A52A	TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	52					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTGTCTCAGGGCAAAGGTGA	0.607000													32	54					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732428	55732428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55732428C>A	ENST00000379906.2	+	10	1692	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	SLC6A2_ENST00000219833.8_Silent_p.T479T|SLC6A2_ENST00000567238.1_Silent_p.T374T|SLC6A2_ENST00000566163.1_Silent_p.T434T|SLC6A2_ENST00000561820.1_Silent_p.T479T|SLC6A2_ENST00000568943.1_Silent_p.T479T|SLC6A2_ENST00000414754.3_Silent_p.T479T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	479					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTGCGGGCACCTCCATCCTTT	0.532000													6	77					0.000157383	0.00017284	1	1	0
USP31	57478	broad.mit.edu	37	16	23113642	23113642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23113642C>A	ENST00000219689.7	-	6	1231	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	411					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCCTTACCTCTTTGACTGAG	0.383000													4	46					0.00024832	0.0002712	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10746140	10746140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10746140G>T	ENST00000586078.1	+	14	1291	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	SLC44A2_ENST00000407327.4_Missense_Mutation_p.K392N|SLC44A2_ENST00000335757.5_Missense_Mutation_p.K394N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	394					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGTCTATAAGATCTTTGATG	0.572000													18	86					1.33834e-09	1.62941e-09	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	92003880	92003880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:92003880C>T	ENST00000450295.1	-	10	1633	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SEMA4D_ENST00000422704.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S286N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S286N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	286	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GACCAAGCCGCTGTCTGGCCG	0.582000													20	185					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2937892	2937892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2937892C>A	ENST00000380574.1	+	6	1008	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC22A18_ENST00000347936.2_Missense_Mutation_p.L193M|SLC22A18_ENST00000312221.5_Missense_Mutation_p.L193M|SLC22A18_ENST00000449793.2_Missense_Mutation_p.L95M			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	193					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCACCCTCCTGGGAGCTGT	0.697000													19	31					0.00121646	0.00129943	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55566748	55566748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55566748A>G	ENST00000436346.1	-	13	2211	c.1370T>C	c.(1369-1371)tTg>tCg	p.L457S	CCDC88A_ENST00000336838.6_Missense_Mutation_p.L457S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L457S|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L457S|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	457					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTGATGTCAACTCATTCAC	0.363000													19	25					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48750833	48750833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48750833C>T	ENST00000285238.8	+	19	2493	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	805	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCCAGACGCGAGTGCTGGT	0.612000													25	36					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170471162	170471162	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170471162A>G	ENST00000260970.3	+	9	695	c.475A>G	c.(475-477)Aca>Gca	p.T159A	PPIG_ENST00000409714.3_Missense_Mutation_p.T144A|PPIG_ENST00000462903.1_Missense_Mutation_p.T159A|PPIG_ENST00000448752.2_Missense_Mutation_p.T159A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	159	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAACCAGAAAACAGATGCAGC	0.358000													57	64					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230584	38230584	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38230584A>G	ENST00000339503.4	-	8	1134	c.633T>C	c.(631-633)acT>acC	p.T211T	ZNF573_ENST00000357309.3_Silent_p.T181T|ZNF573_ENST00000392138.1_Silent_p.T182T|ZNF573_ENST00000536220.1_Silent_p.T181T|ZNF573_ENST00000590414.2_Silent_p.T269T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTTTCGCCAGTATGAACTC	0.428000													15	116					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99696369	99696369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99696369C>T	ENST00000394132.2	-	12	1944	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TTC23_ENST00000558613.1_Missense_Mutation_p.R376H|TTC23_ENST00000394130.1_Missense_Mutation_p.R376H|TTC23_ENST00000394136.1_Missense_Mutation_p.R376H|TTC23_ENST00000394129.2_Missense_Mutation_p.R376H|TTC23_ENST00000558663.1_Missense_Mutation_p.R376H|TTC23_ENST00000394135.3_Missense_Mutation_p.R376H|TTC23_ENST00000262074.4_Missense_Mutation_p.R376H			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	376							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGTTTCTTGCGGGCCCCACT	0.557000													17	36					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922112	52922112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922112C>T	ENST00000281741.4	-	18	2143	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	591					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGTGGGATGCTCTCTATTTT	0.403000													32	32					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337663	20337663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20337663G>A	ENST00000302555.5	-	2	240	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GP2_ENST00000381362.4_Nonsense_Mutation_p.R31*|GP2_ENST00000341642.5_Nonsense_Mutation_p.R31*|GP2_ENST00000381360.5_Nonsense_Mutation_p.R31*			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	31						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TACTTACCTCGCTGCACTGCA	0.537000													4	64					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36028080	36028080	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028080C>T	ENST00000373243.2	+	4	1614	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_ENST00000356090.4_Missense_Mutation_p.R411C|NCDN_ENST00000373253.3_Missense_Mutation_p.R394C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	411					neuron projection development	cytosol|dendrite|neuronal cell body		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622000													22	33					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14490987	14490987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14490987C>G	ENST00000249923.3	-	15	2160	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	COPB1_ENST00000439561.2_Missense_Mutation_p.L620F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	620					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AACATTCAGACAAGACCTTGA	0.398000													19	122					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236881218	236881218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236881218G>A	ENST00000366578.4	+	2	353	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E63K|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	63	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAGAACATCGAGGAAGACTT	0.468000													9	13					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99865307C>T	ENST00000331768.5	-	13	1653	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517000													38	92					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754246	32754246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32754246G>A	ENST00000249007.4	+	1	393	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RFPL3_ENST00000382088.3_Missense_Mutation_p.C34Y|RFPL3_ENST00000397468.1_Missense_Mutation_p.C34Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	63							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCCTCAAGTGCATCAATTCG	0.532000													28	51					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77918633	77918633	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77918633G>T	ENST00000529308.1	+	8	1710	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	USP35_ENST00000526425.1_Missense_Mutation_p.K214N|USP35_ENST00000441408.2_Missense_Mutation_p.K69N|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.K51N	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	483					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGATGACCAAGCTGCAGTGGC	0.587000													10	88					0.0581538	0.0593651	1	1	0
CDH23	64072	broad.mit.edu	37	10	73571499	73571499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571499C>T	ENST00000224721.6	+	64	9328	c.9323C>T	c.(9322-9324)gCt>gTt	p.A3108V	CDH23_ENST00000398788.3_Missense_Mutation_p.A863V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3103					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCATTGTGGCTGGCTCAGCT	0.647000													2	2					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572495	47572495	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572495C>T	ENST00000253048.5	-	14	2289	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677000													18	16					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131124478	131124478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131124478C>A	ENST00000357668.1	-	23	2290	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.G755*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	755					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGCTGAATCCTGGCAGTGCC	0.572000													7	73					0.00198382	0.00210581	1	1	0
MYB	4602	broad.mit.edu	37	6	135518458	135518458	+	Silent	SNP	G	G	A	rs55983257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135518458G>A	ENST00000341911.5	+	10	1762	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534121.1_Silent_p.S505S|MYB_ENST00000533624.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000528774.1_Silent_p.S518S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	468					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453000			T	NFIB	adenoid cystic carcinoma								22	29					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78834894	78834894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78834894C>T	ENST00000044462.7	+	4	266	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558341.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A39V	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAATTTTAGCAAATGATGGT	0.393000													69	124					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491095	62491095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62491095G>A	ENST00000301785.5	-	4	1047	c.855C>T	c.(853-855)taC>taT	p.Y285Y	RP11-831H9.16_ENST00000403734.2_Silent_p.Y285Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	285	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTCACTCCGTAAGTACTCC	0.463000													17	19					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8508150	8508150	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8508150G>T	ENST00000360416.3	-	3	634	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MYH10_ENST00000269243.4_Missense_Mutation_p.L166I|MYH10_ENST00000396239.1_Missense_Mutation_p.L166I|MYH10_ENST00000379980.4_Missense_Mutation_p.L166I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	166	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTACCTTGAAGCATGCATCTG	0.303000													20	71					2.21704e-12	2.7869e-12	1	1	0
AP000889.3	0	broad.mit.edu	37	11	107463069	107463069	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107463069G>T	ENST00000600612.1	+	2	280	c.267G>T	c.(265-267)caG>caT	p.Q89H	ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron																							CTAACCCCCAGTGGGCCGTAG	0.478000													17	21					3.41278e-10	4.19267e-10	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10265644	10265644	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265644A>G	ENST00000340748.4	-	19	1768	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	DNMT1_ENST00000540357.1_Silent_p.I511I|DNMT1_ENST00000359526.4_Silent_p.I527I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	511	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACTCCACCACAATCTTGCTGA	0.512000													34	43					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24512864	24512864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24512864G>T	ENST00000441463.2	+	2	112	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.D38Y	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	38					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATAGGGAGAGATAATGCATG	0.388000													5	45					0.00116845	0.00124821	1	1	0
SLC2A13	114134	broad.mit.edu	37	12	40258676	40258676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40258676C>T	ENST00000280871.4	-	6	1257	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	403						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATGAGTGCTACGGTGGTACCT	0.388000										HNSCC(50;0.14)			29	43					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457707	144457707	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144457707T>C	ENST00000283131.3	+	11	1833	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	457					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAAATGTTGTAATCATCCAT	0.378000													5	59					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700012	77700012	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77700012C>A	ENST00000296043.6	+	11	6626	c.5673C>A	c.(5671-5673)gcC>gcA	p.A1891A	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1891	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAGGATGCCCGGGAGCTGA	0.537000													11	33					0.000673444	0.000724755	1	1	0
SUPT20H	55578	broad.mit.edu	37	13	37622074	37622074	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37622074C>T	ENST00000360252.4	-	4	287		c.e4-1		SUPT20H_ENST00000542180.1_Splice_Site|SUPT20H_ENST00000350612.6_Splice_Site|SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CAATGACATACTAAAAAACAA	0.318000													16	44					0	0	1	0	0
EGLN3	112399	broad.mit.edu	37	14	34419872	34419872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34419872G>A	ENST00000547327.2	-	1	415	c.87C>T	c.(85-87)tgC>tgT	p.C29C	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Silent_p.C29C			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	29					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCAGGTAGCAGAAGCCCA	0.652000													11	27					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13222443	13222443	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13222443T>G	ENST00000319217.7	-	6	783	c.536A>C	c.(535-537)gAt>gCt	p.D179A	MPDZ_ENST00000546205.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381015.4_Missense_Mutation_p.D179A|MPDZ_ENST00000541718.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381022.2_Missense_Mutation_p.D179A|MPDZ_ENST00000536827.1_Missense_Mutation_p.D179A|MPDZ_ENST00000447879.1_Missense_Mutation_p.D179A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	179	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATCTTCCATCTCTATCAAG	0.388000													6	102					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154133205	154133205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133205T>G	ENST00000360256.4	-	16	5667	c.5467A>C	c.(5467-5469)Aaa>Caa	p.K1823Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1823	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAAAGTTTTTTCTAGGTTCT	0.408000													10	108					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536048	186536048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536048G>A	ENST00000431808.1	-	18	3383	c.2820C>T	c.(2818-2820)atC>atT	p.I940I	SORBS2_ENST00000418609.1_Silent_p.I844I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Silent_p.I571I|SORBS2_ENST00000284776.7_Silent_p.I940I|SORBS2_ENST00000393528.3_Silent_p.I506I|SORBS2_ENST00000449407.2_Silent_p.I484I|SORBS2_ENST00000355634.5_Silent_p.I1040I|SORBS2_ENST00000437304.2_Silent_p.I664I|SORBS2_ENST00000448662.2_Silent_p.I501I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	940	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGCTTCTCCGATTTCTCCGG	0.453000													36	63					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160750522	160750522	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160750522A>C	ENST00000263636.4	-	3	567	c.540T>G	c.(538-540)caT>caG	p.H180Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H180Q|LY75_ENST00000554112.1_Missense_Mutation_p.H180Q|LY75_ENST00000553424.1_Missense_Mutation_p.H180Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H180Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCAATCATGATGCCAGGTCC	0.443000													7	89					0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:155301617G>A	ENST00000321736.5	-	2	278	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368000													57	40					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77091087	77091087	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77091087A>C	ENST00000264896.2	-	8	1395	c.1046T>G	c.(1045-1047)tTt>tGt	p.F349C	SCARB2_ENST00000452464.2_Missense_Mutation_p.F206C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	349					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCAGAAACAAACCTCTCATC	0.398000													37	71					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590553	101590553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101590553A>G	ENST00000370449.4	+	21	2941	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAAGACGAAGAACTAGTG	0.418000													3	63					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71026811	71026811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71026811C>T	ENST00000318789.4	-	16	1936	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	FOXP1_ENST00000484350.1_Missense_Mutation_p.A395T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A470T|FOXP1_ENST00000475937.1_Missense_Mutation_p.A471T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A471T|FOXP1_ENST00000491238.1_Missense_Mutation_p.A473T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A471T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	471					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTAAAGATGCATATGTAAAT	0.299000			T	PAX5	ALL								6	73					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144898851	144898851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144898851C>A	ENST00000526683.1	-	12	2074	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	PUF60_ENST00000527197.1_Nonsense_Mutation_p.E461*|PUF60_ENST00000453551.2_Nonsense_Mutation_p.E464*|PUF60_ENST00000456095.2_Nonsense_Mutation_p.E478*|PUF60_ENST00000313352.7_Nonsense_Mutation_p.E447*|PUF60_ENST00000349157.6_Nonsense_Mutation_p.E490*	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	507	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCATCCTCCTCCTCGCCT	0.542000													47	162					3.39706e-21	4.46735e-21	1	1	0
DDX42	11325	broad.mit.edu	37	17	61895514	61895514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895514G>A	ENST00000578681.1	+	19	3174	c.2573G>A	c.(2572-2574)cGg>cAg	p.R858Q	DDX42_ENST00000583590.1_Missense_Mutation_p.R858Q|DDX42_ENST00000457800.2_Missense_Mutation_p.R858Q|DDX42_ENST00000359353.5_Missense_Mutation_p.R739Q|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.R858Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	858	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATGGCCATCGGCACGGGGAG	0.567000													32	52					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16235929	16235929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16235929G>A	ENST00000375759.3	+	4	1199	c.995G>A	c.(994-996)cGt>cAt	p.R332H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	332					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGAGCCCCGTAAAAGTTTT	0.458000													41	83					0	0	1	0	0
LRP2BP	55805	broad.mit.edu	37	4	186288381	186288381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186288381C>T	ENST00000362004.3	-	8	1814	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	LRP2BP_ENST00000510776.1_Missense_Mutation_p.A307T|LRP2BP_ENST00000505916.1_Missense_Mutation_p.A333T|LRP2BP_ENST00000328559.7_Missense_Mutation_p.A333T			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	333						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCTGCCAATGCGGGATTCAGA	0.323000													49	71					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516172	241516172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241516172G>A	ENST00000270357.3	+	9	1631	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	346					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATGGGTCCCCGCTGCCGCAGG	0.692000													17	25					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3945724	3945724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3945724G>A	ENST00000381638.2	-	39	6429	c.6306_splice	c.e39+1	p.S2102_splice		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2102							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCCTTACCGACTTTAAGGG	0.423000													42	55					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428851	115428851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115428851G>A	ENST00000369522.3	+	14	1351	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	SYCP1_ENST00000369518.1_Missense_Mutation_p.A371T	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	371					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCTAGAGCTGCTCATTC	0.318000													23	54					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958715	102958715	+	Missense_Mutation	SNP	G	G	A	rs75320001	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958715G>A	ENST00000311734.2	+	6	982	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	215	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.G215R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338000													22	35					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518713	41518713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41518713C>A	ENST00000324071.4	+	8	1294	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	CYP2B6_ENST00000593831.1_Missense_Mutation_p.F193L|CYP2B6_ENST00000330446.5_Missense_Mutation_p.F229L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	429					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTATCCCCTTCTCCTTAGGTA	0.458000													78	148					3.71121e-27	4.94952e-27	1	1	0
WWC3	55841	broad.mit.edu	37	X	10096201	10096201	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10096201G>T	ENST00000380861.4	+	16	2671	c.2280_splice	c.e16+1	p.T760_splice	WWC3_ENST00000454666.1_Splice_Site_p.T760_splice	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	760										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCGGCAAGACGGTACTTGGCC	0.567000													15	30					3.52763e-06	4.04633e-06	1	1	0
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	rs142290977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30363339G>A	ENST00000323037.4	+	2	1602	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.R184L(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269000													29	96					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227223260	227223260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227223260G>T	ENST00000366769.3	-	24	4434	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1083N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T967N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1048N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1020N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1028N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1061N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1061					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACTGGACAAGTGGTTGGAGC	0.378000													7	83					5.18039e-06	5.91835e-06	1	1	0
CLK3	1198	broad.mit.edu	37	15	74912538	74912538	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74912538G>A	ENST00000395066.3	+	3	1246	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CLK3_ENST00000352989.5_Missense_Mutation_p.R114H|CLK3_ENST00000345005.4_Missense_Mutation_p.R114H|CLK3_ENST00000348245.3_Missense_Mutation_p.R114H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACAAACGCCGCACCAGGTCT	0.617000													37	62					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105974145	105974145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105974145C>T	ENST00000357060.3	-	4	571	c.456G>A	c.(454-456)caG>caA	p.Q152Q	WDR96_ENST00000278064.2_Silent_p.Q82Q|WDR96_ENST00000369719.1_Silent_p.Q82Q|WDR96_ENST00000428666.1_Silent_p.Q152Q|WDR96_ENST00000369720.1_Silent_p.Q82Q	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	152										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCATTCCAGGCTGTGATTTCT	0.378000													28	38					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211302421	211302421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211302421G>A	ENST00000443314.1	-	6	1208	c.866C>T	c.(865-867)gCc>gTc	p.A289V	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.A289V|LANCL1_ENST00000450366.2_Missense_Mutation_p.A289V|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.A289V|LANCL1_ENST00000233714.4_Missense_Mutation_p.A289V			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	289						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACCTTATAGGCCTGGATGAG	0.348000													16	32					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233275	84233275	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84233275A>T	ENST00000536636.1	+	3	460	c.115A>T	c.(115-117)Agt>Tgt	p.S39C	PRSS35_ENST00000369700.3_Missense_Mutation_p.S39C	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	39					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCGGATTGTCAGTGAAAGGAC	0.468000													4	74					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275507	1275507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1275507G>A	ENST00000447027.1	+	34	15470	c.15412G>A	c.(15412-15414)Gcc>Acc	p.A5138T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A5135T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5135	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCCGCGCCCTCAGCAT	0.622000													23	21					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48596356	48596356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596356C>A	ENST00000262384.3	-	2	435		c.e2-1		RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAATATATTCCTGTAAAGAGA	0.338000													5	15					1.23904e-05	1.39987e-05	1	1	0
SIK3	23387	broad.mit.edu	37	11	116798086	116798086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116798086C>A	ENST00000375300.1	-	4	470	c.465G>T	c.(463-465)gtG>gtT	p.V155V	SIK3_ENST00000446921.2_Silent_p.V155V|SIK3_ENST00000542607.1_Silent_p.V97V|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Silent_p.V97V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	97	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCATGGGCCACCAGGTGGT	0.448000													31	77					1.22384e-17	1.58917e-17	1	1	0
MEN1	0	broad.mit.edu	37	11	64575411	64575411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64575411G>A	ENST00000337652.1	-	3	1124	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MEN1_ENST00000312049.6_Silent_p.G202G|MEN1_ENST00000315422.4_Silent_p.G202G|MEN1_ENST00000377316.2_Silent_p.G202G|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Silent_p.G207G|MEN1_ENST00000443283.1_Silent_p.G207G|MEN1_ENST00000394374.2_Silent_p.G207G|MEN1_ENST00000394376.1_Silent_p.G207G|MEN1_ENST00000377326.3_Silent_p.G202G	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	207					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCCTCGTTGCCCTTGCCGT	0.622000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				17	23					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	732441	732441	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:732441G>T	ENST00000565677.1	+	7	1255	c.648G>T	c.(646-648)gaG>gaT	p.E216D	JMJD8_ENST00000454700.1_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E216D|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000219548.4_Missense_Mutation_p.E288D|LA16c-313D11.11_ENST00000565813.1_RNA|JMJD8_ENST00000293882.4_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	288					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				CTATGAAGGAGGTTATTGACG	0.597000													8	75					1.12685e-05	1.27857e-05	1	1	0
MMP27	64066	broad.mit.edu	37	11	102562576	102562576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102562576T>C	ENST00000260229.4	-	10	1554	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACAATATCTTTATGCCTCC	0.299000													8	75					0	0	1	0	0
BBS7	0	broad.mit.edu	37	4	122754537	122754537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122754537G>T	ENST00000264499.4	-	15	1708	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	BBS7_ENST00000506636.1_Missense_Mutation_p.L509M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	509					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTAGGGTCAGTGTATTCATG	0.398000									Bardet-Biedl syndrome				8	58					0.00448238	0.00472561	1	1	0
MANEAL	149175	broad.mit.edu	37	1	38265634	38265634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38265634G>T	ENST00000373045.6	+	4	1514	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MANEAL_ENST00000329006.5_Missense_Mutation_p.R156M|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.R184M|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	378						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCGCAACAGGGTCAATGGC	0.557000													9	55					0.000274275	0.000298791	1	1	0
ERLIN1	10613	broad.mit.edu	37	10	101911983	101911983	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101911983C>A	ENST00000421367.2	-	11	3659	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	316					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443000													25	44					1.64293e-13	2.0847e-13	1	1	0
ASPSCR1	79058	broad.mit.edu	37	17	79970085	79970085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79970085C>T	ENST00000580534.1	+	11	1311	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000306739.4_Intron			Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	433	Interaction with GLUT4 (By similarity).						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTTCCTAACACGTAGGTGCCT	0.617000			T	TFE3	alveolar soft part sarcoma								11	25					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242439588	242439588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242439588C>A	ENST00000316586.4	-	5	776	c.427_splice	c.e5+1	p.A143_splice	STK25_ENST00000403346.3_Splice_Site_p.A143_splice|STK25_ENST00000405585.1_Splice_Site_p.A66_splice|STK25_ENST00000405883.3_Splice_Site_p.A66_splice|STK25_ENST00000401869.1_Splice_Site_p.A143_splice|STK25_ENST00000543554.1_Splice_Site_p.A49_splice|STK25_ENST00000535007.1_Splice_Site_p.A49_splice	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	143	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCAGCAGGACCTTTGATGTCT	0.597000													6	37					0.0215528	0.0221649	1	1	0
HOXA7	3204	broad.mit.edu	37	7	27194841	27194841	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27194841C>T	ENST00000242159.3	-	2	513	c.379_splice	c.e2-1	p.G127_splice	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	127					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCTGTCAGGTCCTGAGAACAG	0.617000													34	35					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62144287	62144287	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62144287A>T	ENST00000433197.2	-	8	681	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	196					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAAAGTGGGACATCTCTGTA	0.512000													6	15					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107113856	107113856	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107113856C>A	ENST00000369046.4	+	11	1670	c.1566C>A	c.(1564-1566)gcC>gcA	p.A522A		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	522					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAAAGTTAGCCTCTGTCTCTC	0.393000													15	26					5.01169e-05	5.58345e-05	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63064818	63064818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63064818G>A	ENST00000544661.1	+	4	513	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A184T			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	184						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTCCAGCTTGCCATTACTGA	0.413000													39	63					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707189	109707189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707189C>T	ENST00000369939.3	+	3	526	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.R115C	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	115					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCTGAGGGCCGCTACTCCCT	0.587000													8	114					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89083115	89083115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89083115G>T	ENST00000554922.1	-	42	5999	c.5751C>A	c.(5749-5751)gaC>gaA	p.D1917E	EML5_ENST00000380664.5_Missense_Mutation_p.D1909E|EML5_ENST00000352093.5_Missense_Mutation_p.D1871E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1909						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATGCCAAAGTCATCTCCTG	0.373000													10	25					4.68919e-08	5.58064e-08	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35302462	35302462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35302462C>T	ENST00000278379.3	-	9	1655	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	SLC1A2_ENST00000606205.1_Missense_Mutation_p.G458D|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G449D	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	458					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TGTTGGCAGGCCCACGGCTGT	0.617000													31	37					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453772	91453772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91453772G>A	ENST00000360468.3	+	10	1637	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R540H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R48H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	540					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCACGCTCGCCGCTCTGGT	0.627000													17	28					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210547	228210547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228210547G>A	ENST00000284523.1	+	2	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R84H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	84					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637000													30	32					0	0	1	0	0
C12orf29	91298	broad.mit.edu	37	12	88433974	88433974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88433974C>T	ENST00000356891.3	+	2	343	c.140C>T	c.(139-141)gCa>gTa	p.A47V	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	47										large_intestine(3)|lung(1)|ovary(1)	5						GCATTAGATGCAGATATATAC	0.313000													6	82					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94730996	94730996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94730996C>T	ENST00000335080.5	+	3	1292	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	KDM4D_ENST00000536741.1_Missense_Mutation_p.L154F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	154	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAATGGAATCTTGGGCACCT	0.438000													40	37					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393000													33	81					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418000													7	61					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64630256	64630256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64630256C>T	ENST00000357395.3	+	90	16735	c.5591C>T	c.(5590-5592)gCt>gTt	p.A1864V	SYNE2_ENST00000555002.1_Missense_Mutation_p.A2113V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1864V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5479V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5396V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5479V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5479					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGGCTGCTTATTTGGAA	0.473000													15	31					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542146	32542146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32542146C>T	ENST00000360538.2	-	3	2493	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	TOPORS_ENST00000379858.1_Missense_Mutation_p.G728R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	793	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTTCCCTCCAGGCTTTTCA	0.453000													33	64					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640806	44640806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44640806C>T	ENST00000372330.3	+	7	1047	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	343	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGCAACTCGGCGGGGGAGCTG	0.632000													32	69					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76818215	76818215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76818215G>A	ENST00000338487.5	-	1	57	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	20						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCGGCGACAGCCTCTTGGCA	0.542000													23	29					0	0	1	0	0
CHCHD2	51142	broad.mit.edu	37	7	56171950	56171950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171950G>A	ENST00000395422.3	-	2	431	c.269C>T	c.(268-270)gCt>gTt	p.A90V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	90						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCAGGCTCAGCATTACTTCC	0.547000													29	88					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421742	134421742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421742G>T	ENST00000370766.3	-	7	3569	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.P192H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	287	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACAGATATAGGATGATCATT	0.363000													9	94					5.4927e-09	6.6252e-09	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71236045	71236045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71236045G>T	ENST00000418814.2	+	15	3872	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	FAM135A_ENST00000505868.1_Missense_Mutation_p.E1086D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E666D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E873D|FAM135A_ENST00000370479.3_Missense_Mutation_p.E873D|FAM135A_ENST00000361499.3_Missense_Mutation_p.E890D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1086										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAGGATGAGGAGGAAGAGC	0.393000													7	38					8.12818e-05	8.99451e-05	1	1	0
ZNF276	92822	broad.mit.edu	37	16	89799811	89799811	+	Missense_Mutation	SNP	G	G	A	rs148047906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89799811G>A	ENST00000289816.5	+	7	1358	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ZNF276_ENST00000446326.2_Missense_Mutation_p.R210H|ZNF276_ENST00000443381.2_Missense_Mutation_p.R424H|ZNF276_ENST00000568064.1_Missense_Mutation_p.R332H	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGAAGCTTCGTTGTGAGAGG	0.562000													8	151					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655621	48655621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655621G>A	ENST00000352832.5	+	9	2369	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S666N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	666					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCCAGACAGCTGCCCCTAC	0.597000													18	40					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587428	204587428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587428G>A	ENST00000367175.1	-	1	3905	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	LRRN2_ENST00000367176.3_Missense_Mutation_p.R565W|LRRN2_ENST00000367177.3_Missense_Mutation_p.R565W			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	565					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGGCCCCGGAGGGAGGAG	0.657000													27	39					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44027530	44027530	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027530C>A	ENST00000269439.7	+	4	541	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	164							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTGCAGGGATCTCAGTGTGGA	0.532000													33	65					6.97489e-18	9.07097e-18	1	1	0
TTC4	7268	broad.mit.edu	37	1	55188406	55188406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55188406G>T	ENST00000371281.3	+	5	615	c.528G>T	c.(526-528)gaG>gaT	p.E176D	TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	176							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGTGTGATGAGGGACTGCAAA	0.468000													6	120					4.096e-09	4.95403e-09	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120306897	120306897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120306897C>A	ENST00000369406.3	-	2	506	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G153C|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	153					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGTATTGCCTGAATCCTGG	0.517000													11	57					4.68919e-08	5.58064e-08	1	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22848930	22848930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22848930G>A	ENST00000283645.4	+	10	1107	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R326Q|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	326					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTGTGTTTCGACTCCAGGAG	0.453000													34	67					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248419	3248419	+	Missense_Mutation	SNP	C	C	T	rs142550750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3248419C>T	ENST00000217939.6	-	4	503	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	117						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTGTGATCACTCTCAGCTTG	0.433000													7	11					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026482	36026482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36026482C>A	ENST00000373243.2	+	3	1113	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	NCDN_ENST00000356090.4_Missense_Mutation_p.L244M|NCDN_ENST00000373253.3_Missense_Mutation_p.L227M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	244					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAGCTGCTGCCCCTCTT	0.637000													22	38					2.89027e-11	3.59474e-11	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761475	55761475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761475C>T	ENST00000278409.1	-	1	626	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAGCAGAGTCCCCACAATAT	0.473000													16	34					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126243846	126243846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126243846G>A	ENST00000368357.3	+	14	2741	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	NCOA7_ENST00000229634.9_Missense_Mutation_p.A682T|NCOA7_ENST00000392477.2_Missense_Mutation_p.A797T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	797					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACGCCTTCCTGCAAGGGTGCA	0.512000													28	36					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10540398	10540398	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10540398T>C	ENST00000322897.6	+	8	575		c.e8+2		NAPG_ENST00000542979.1_Splice_Site	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGGACGTAGGTATGTCTTTAA	0.358000													29	26					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805744	19805744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19805744G>T	ENST00000311322.8	+	2	612	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	48					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GACCCCTGAAGACACAGCTGA	0.458000													16	95					1.99824e-07	2.35189e-07	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39565205	39565205	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39565205C>A	ENST00000307712.6	-	2	635	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	SEC23A_ENST00000545328.2_Missense_Mutation_p.A40S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.A40S|SEC23A_ENST00000553970.1_Missense_Mutation_p.A40S|SEC23A_ENST00000548032.2_Missense_Mutation_p.A40S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	40					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAAACAGGGCTGCCACAGGA	0.433000													10	72					0.361761	0.363227	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995808	57995808	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57995808G>A	ENST00000316770.2	-	1	582	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAAGTGGTTGATTTCCT	0.637000													23	20					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186340	35186340	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35186340G>A	ENST00000381318.3	+	22	2979	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	ITSN1_ENST00000381285.4_Silent_p.T897T|ITSN1_ENST00000399355.2_Silent_p.T897T|ITSN1_ENST00000399349.1_Silent_p.T892T|ITSN1_ENST00000399353.1_Silent_p.T855T|ITSN1_ENST00000399352.1_Silent_p.T892T|ITSN1_ENST00000437442.2_Silent_p.T892T|ITSN1_ENST00000399326.3_Silent_p.T892T|ITSN1_ENST00000399338.4_Silent_p.T892T|ITSN1_ENST00000379960.5_Silent_p.T892T|ITSN1_ENST00000381291.4_Silent_p.T897T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.T892T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	897					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCAGCCACGGCCACTGGCT	0.562000													17	23					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764321	118764321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118764321G>T	ENST00000292174.4	+	2	244	c.68G>T	c.(67-69)aGa>aTa	p.R23I		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	23					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAACTGGACAGATTGGACAAC	0.567000													33	48					2.87052e-16	3.7018e-16	1	1	0
CCL26	10344	broad.mit.edu	37	7	75399066	75399066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75399066C>T	ENST00000394905.2	-	4	487	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CCL26_ENST00000005180.4_Missense_Mutation_p.R77K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCATTTTTTCCTTGGATGGGT	0.438000													4	62					0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18427916	18427916	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18427916G>A	ENST00000259939.3	+	3	587	c.270_splice	c.e3+1	p.E90_splice	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	90					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGAAGCTGAGGTATGAATGA	0.458000													3	24					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78923581	78923581	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78923581C>A	ENST00000545128.1	+	28	4082	c.3544C>A	c.(3544-3546)Cct>Act	p.P1182T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	901					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAACTCCAGCCTTGTCATTC	0.423000													11	16					2.80697e-09	3.39963e-09	1	1	0
PCDHA3	0	broad.mit.edu	37	5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682000													7	69					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48905269	48905269	+	Missense_Mutation	SNP	C	C	T	rs145942328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48905269C>T	ENST00000316623.5	-	3	640	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	62			R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R62H(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCATTATAACGTGATCCACA	0.358000													8	89					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254318	3254318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3254318G>T	ENST00000304646.2	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCAGCAGCAGCATCTCCTCT	0.592000													4	31					0.00024832	0.0002712	1	1	0
GRM5	2915	broad.mit.edu	37	11	88338068	88338068	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88338068G>T	ENST00000418177.2	-	5	1579	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	GRM5_ENST00000305447.4_Silent_p.I404I|GRM5_ENST00000305432.5_Silent_p.I404I|GRM5_ENST00000455756.2_Silent_p.I404I|GRM5_ENST00000393297.1_Silent_p.I404I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	404					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCATCGAATAGATGGCGTTGA	0.458000													8	59					0.00307968	0.00325696	1	1	0
HOOK3	84376	broad.mit.edu	37	8	42841911	42841911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42841911G>A	ENST00000307602.4	+	15	1705	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	502					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAAATCTACGCAAGAATGAA	0.393000			T	RET	papillary thyroid								6	117					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83971034	83971034	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83971034G>A	ENST00000509093.1	+	4	1085	c.306_splice	c.e4-1	p.V103_splice	COPS4_ENST00000503682.1_Splice_Site_p.V103_splice|COPS4_ENST00000511653.1_Splice_Site_p.V103_splice|COPS4_ENST00000264389.2_Splice_Site_p.V103_splice	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	103					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATTATTCCAGGTTGCTTCCAT	0.333000													31	43					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795908	109795908	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795908A>G	ENST00000271332.3	+	1	3268	c.3207A>G	c.(3205-3207)gaA>gaG	p.E1069E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1069	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGAAATGAACTCAGCCTGG	0.577000													15	49					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296283	153296283	+	Silent	SNP	G	G	A	rs61751369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296283G>A	ENST00000303391.6	-	4	1245	c.996C>T	c.(994-996)agC>agT	p.S332S	MECP2_ENST00000453960.2_Silent_p.S344S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTTCCCGCTCTTCTCAC	0.627000													36	52					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384352	21384352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21384352C>T	ENST00000382932.2	-	3	1338	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G424D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	424					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGCTGGGCCTGGGGAGCT	0.632000													6	7					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741938	98741938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741938C>A	ENST00000286067.2	+	1	898	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAATCACCTCTCACGAGGAA	0.512000													27	53					5.45727e-16	7.024e-16	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659372	50659372	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50659372A>G	ENST00000252677.3	+	2	944	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	315					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCCTTTCTACACCCCAAAC	0.488000													13	113					0	0	1	0	0
FAM219A	203259	broad.mit.edu	37	9	34400979	34400979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34400979C>T	ENST00000445726.1	-	6	847	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	FAM219A_ENST00000297620.4_Missense_Mutation_p.A164T|FAM219A_ENST00000379084.1_Intron|FAM219A_ENST00000379087.1_Missense_Mutation_p.A162T|FAM219A_ENST00000379089.1_Missense_Mutation_p.A179T|FAM219A_ENST00000379080.1_Missense_Mutation_p.A168T|FAM219A_ENST00000379081.1_Missense_Mutation_p.A152T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	181																	ATGTGGCAGGCGGTGGAGGAC	0.697000													5	7					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185167	130185167	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130185167G>A	ENST00000422113.2	-	2	482	c.156C>T	c.(154-156)caC>caT	p.H52H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	52						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTTGTTGATGTGGTAGGTCA	0.557000													14	25					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36362372	36362372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36362372C>T	ENST00000255448.4	-	17	2320	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000360631.3_Intron	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCCTGGTTGCTGGTAGTAGT	0.488000													7	76					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226380	39226380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39226380C>A	ENST00000340369.3	-	2	4785	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	XIRP1_ENST00000421646.1_Missense_Mutation_p.E202D|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1519							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACTGAGGCCTCGGGCTTTT	0.632000													30	35					8.53417e-09	1.02731e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179436581	179436581	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179436581T>C	ENST00000589042.1	-	326	74502	c.74278A>G	c.(74278-74280)Act>Gct	p.T24760A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15695A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22192A|TTN_ENST00000359218.5_Missense_Mutation_p.T15820A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15887A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T23119A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23119	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACTCTAGTTGTCTGCTTC	0.438000													46	82					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424521	91424521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91424521G>A	ENST00000268171.3	+	16	2077	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	600	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCAGTGTGCGAGGAAGGCTT	0.607000													8	49					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482412	50482412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50482412G>A	ENST00000599538.1	-	14	2028	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	VRK3_ENST00000594948.1_Missense_Mutation_p.A455V|VRK3_ENST00000377011.2_Missense_Mutation_p.A405V|VRK3_ENST00000443401.2_Missense_Mutation_p.A224V|VRK3_ENST00000601341.1_Missense_Mutation_p.A405V|VRK3_ENST00000316763.3_Missense_Mutation_p.A455V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	455	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGCAGCAAAGCTTCTAGGTT	0.562000													11	21					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570040	1570040	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1570040A>G	ENST00000426508.2	-	29	4245	c.3882T>C	c.(3880-3882)atT>atC	p.I1294I	IFT140_ENST00000361339.5_Silent_p.I488I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1294										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTATTCATCAATCTCCACCT	0.647000													16	26					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451377	19451377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19451377G>T	ENST00000396229.2	+	3	766	c.17G>T	c.(16-18)aGg>aTg	p.R6M	TMC5_ENST00000381414.4_Missense_Mutation_p.R6M|TMC5_ENST00000541464.1_Missense_Mutation_p.R6M|TMC5_ENST00000542583.2_Missense_Mutation_p.R6M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTACTACAGGAATAACTGG	0.443000													6	76					1.12685e-05	1.27857e-05	1	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262066	12262066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12262066G>A	ENST00000376259.3	+	9	1032	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	315					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACAGGGCCCCGAGCAGCAGCA	0.667000													9	9					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251978	49251978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49251978C>T	ENST00000309739.5	-	5	630	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	167					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAAAGCTGAGCCTTCCAGGTA	0.557000													14	37					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734076	58734076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58734076A>G	ENST00000305921.3	+	5	1366	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	378	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCTCCAGAAGTGGACAATC	0.463000													6	72					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	52025168	52025168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52025168T>C	ENST00000311234.4	-	3	804	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000420668.2_Missense_Mutation_p.Y111C|INTS6_ENST00000398119.2_Missense_Mutation_p.Y98C|INTS6_ENST00000463928.1_Missense_Mutation_p.Y111C|INTS6_ENST00000442263.3_Missense_Mutation_p.Y111C	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	111	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTGCCCATAGTTGTCTAT	0.353000													8	90					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74079743	74079743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74079743C>T	ENST00000607838.1	-	20	2204	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	EXOC7_ENST00000589210.1_Missense_Mutation_p.D681N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D653N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D673N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D690N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D732N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D650N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	732					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAGGTGTCGAAAAGGCGA	0.582000													32	44					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235929518	235929518	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235929518T>C	ENST00000389794.3	-	21	6156	c.5982A>G	c.(5980-5982)aaA>aaG	p.K1994K	LYST_ENST00000389793.2_Silent_p.K1994K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1994					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTATAATTTTCACAAATG	0.353000													150	159					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117136	20117136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20117136G>T	ENST00000397165.2	-	4	1335	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	ZNF682_ENST00000358523.5_Missense_Mutation_p.T360N|ZNF682_ENST00000595736.1_Missense_Mutation_p.T316N|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.T360N|ZNF682_ENST00000597972.1_Missense_Mutation_p.T398N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCTCTCCAGTGTGAATTCT	0.378000													25	35					9.57634e-11	1.18454e-10	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226026435	226026435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026435G>A	ENST00000366837.4	+	4	641	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EPHX1_ENST00000272167.5_Missense_Mutation_p.G149S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	149					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATGGTGCACGGCTGGCCCGG	0.582000													73	55					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69149137	69149137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69149137G>T	ENST00000306560.1	+	4	1786	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Nonsense_Mutation_p.E544*	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	544					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAAGAAGCCGGAGCAGTACAG	0.557000													4	60					0.217242	0.218821	1	1	0
ZNF300	91975	broad.mit.edu	37	5	150276343	150276343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276343C>T	ENST00000446148.2	-	7	933	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S153N|ZNF300_ENST00000418587.2_Missense_Mutation_p.S117N|ZNF300_ENST00000394226.2_Missense_Mutation_p.S153N	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTTTGCTGTTAACAAA	0.378000													37	91					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34939572	34939572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34939572G>T	ENST00000356577.4	+	7	7242	c.6768_splice	c.e7+1	p.R2256_splice	SON_ENST00000290239.6_Splice_Site_p.R2256_splice|SON_ENST00000381692.2_Splice_Site_p.R284_splice|AP000304.2_ENST00000439593.1_RNA	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2256					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTCAGGAAAGGGTATGTAGC	0.353000													9	39					0.0581538	0.0593651	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37356573	37356573	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37356573G>T	ENST00000373091.3	-	2	256	c.240C>A	c.(238-240)acC>acA	p.T80T	GRIK3_ENST00000373093.4_Silent_p.T80T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	80					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTATGTCATAGGTCAAGGTTG	0.547000													49	71					2.43468e-25	3.2359e-25	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043467	20043467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043467G>T	ENST00000570682.1	-	2	952	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	218						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TAGCCACGGAGACGAAAATTG	0.512000													23	40					6.32553e-13	7.99037e-13	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22181199	22181199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181199C>A	ENST00000374695.3	-	49	6272	c.6193G>T	c.(6193-6195)Ggg>Tgg	p.G2065W	HSPG2_ENST00000430507.1_Missense_Mutation_p.G15W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2065	Ig-like C2-type 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGTTTGCCCTTCTGTCACA	0.642000													6	10					2.0095e-06	2.31757e-06	1	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2405514	2405514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405514G>A	ENST00000332578.3	+	6	711	c.711G>A	c.(709-711)tgG>tgA	p.W237*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	237	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCAGGTGGCTGGTGTCTG	0.597000													8	38					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10277310	10277310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10277310G>A	ENST00000340748.4	-	10	1042	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DNMT1_ENST00000540357.1_Silent_p.G269G|DNMT1_ENST00000359526.4_Silent_p.G285G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	269	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGCCTGCACGCCTGCCCTGG	0.567000													29	29					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298562	75298562	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75298562C>A	ENST00000304771.3	-	4	2734	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.G333C	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	662	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.G662R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498000													35	74					3.11337e-16	4.01248e-16	1	1	0
PHYHIP	9796	broad.mit.edu	37	8	22085844	22085844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22085844G>A	ENST00000454243.2	-	2	601	c.27C>T	c.(25-27)agC>agT	p.S9S	PHYHIP_ENST00000321613.3_Silent_p.S9S	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	9	Fibronectin type-III.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATCTCAATGCTGTGGGGCG	0.577000													3	7					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655184	113655184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113655184C>T	ENST00000358160.4	+	14	2020	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.R305*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.R239*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.R343*|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTGGCCTACGAAGGAGAAG	0.393000													25	51					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235765	6235765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6235765C>T	ENST00000265978.4	-	11	2833	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	FAM160A2_ENST00000449352.2_Silent_p.A811A|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGAAGCCGCAAAGTTCT	0.532000													14	131					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487706	15487706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15487706C>T	ENST00000341776.2	+	6	1083	c.839C>T	c.(838-840)gCc>gTc	p.A280V	JARID2_ENST00000397311.3_Missense_Mutation_p.A108V|JARID2_ENST00000541660.1_Missense_Mutation_p.A242V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	280					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGTTCCTCGGCCAAGGGGCTT	0.652000													15	22					0	0	1	0	0
FPGT-TNNI3K	0	broad.mit.edu	37	1	74701866	74701866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74701866G>A	ENST00000370895.1	+	4	459	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TNNI3K_ENST00000370891.2_Missense_Mutation_p.E142K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E142K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E41K			Q59H18	TNI3K_HUMAN		41						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAAGGAAAAAGAACTGACAGA	0.299000													13	31					0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967491	125967491	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967491G>T	ENST00000357147.3	+	1	78	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	22										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCTGATGAGAGTCTCTATAAA	0.393000													21	51					3.51602e-12	4.4132e-12	1	1	0
MROH5	389690	broad.mit.edu	37	8	142476636	142476636	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142476636G>T	ENST00000430863.1	-	0	2430					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CACAGGCGGAGGCGGATGGCC	0.662000													3	19					0.004672	0.0049138	1	1	0
HSPA1L	0	broad.mit.edu	37	6	31779560	31779560	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31779560T>G	ENST00000375654.4	-	2	379	c.190A>C	c.(190-192)Aat>Cat	p.N64H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.N64H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	64					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGGGGATTCATTGCTACC	0.507000													54	66					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117425	100117425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100117425G>A	ENST00000372966.3	-	6	832	c.627C>T	c.(625-627)caC>caT	p.H209H	NOX1_ENST00000217885.5_Silent_p.H209H|NOX1_ENST00000372960.4_Silent_p.H172H|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	209	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGATAAAAAGGTGGTGAGTAT	0.443000													105	168					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215502	208215502	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215502G>T	ENST00000367033.3	-	22	4984	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1409					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGTCAGAGAGCAGCTGCT	0.607000													23	43					8.04996e-18	1.04647e-17	1	1	0
SPTBN1	0	broad.mit.edu	37	2	54849603	54849603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54849603G>A	ENST00000333896.5	+	8	1389	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R348H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	348					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACACTTACCGCACTGTGGAG	0.423000													29	59					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559779	210559779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559779C>T	ENST00000360351.4	+	7	3391	c.2885C>T	c.(2884-2886)aCt>aTt	p.T962I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T958I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	962					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGTTGGATACTGTACTAGAA	0.403000													28	52					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198273264	198273264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198273264T>C	ENST00000335508.5	-	8	1037	c.946A>G	c.(946-948)Aca>Gca	p.T316A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	316	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTCGATCTGTTCGAGGAGTC	0.423000			Mis		myelodysplastic syndrome								10	63					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30747036C>T	ENST00000263056.1	+	7	1593	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_ENST00000542547.1_Silent_p.I299I|MAP3K8_ENST00000375321.1_Silent_p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	299	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537000													12	32					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71152347	71152347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71152347G>A	ENST00000377311.3	-	2	393	c.341C>T	c.(340-342)gCa>gTa	p.A114V		NM_153237.1	NP_694969.1			transmembrane protein 252																		CTCTCTCTCTGCAGGACAGCT	0.512000													15	27					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846069	130846069	+	Silent	SNP	C	C	T	rs35377726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130846069C>T	ENST00000245255.3	+	16	2165	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	631	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTTGGCATCGATTGTTACC	0.433000													14	103					0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7468005	7468005	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7468005G>T	ENST00000321337.7	+	3	1099	c.779G>T	c.(778-780)aGc>aTc	p.S260I	SENP3_ENST00000429205.2_Missense_Mutation_p.S260I|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	260					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGGGAGCGCAGCTTGGCACCC	0.572000													18	25					1.85244e-09	2.25385e-09	1	1	0
LRWD1	222229	broad.mit.edu	37	7	102110021	102110021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102110021C>T	ENST00000292616.5	+	10	1381	c.1228_splice	c.e10-1	p.T410_splice		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	410					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTCTTCAGCGGCCTCCTAT	0.647000													26	67					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111892062	111892062	+	Splice_Site	SNP	G	G	T	rs147358716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111892062G>T	ENST00000356080.4	+	14	2099		c.e14-1		ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTATCCAACAGATGCTGAGCA	0.383000													11	51					0.000673444	0.000724755	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56202619	56202619	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56202619G>T	ENST00000361673.3	-	5	5013	c.4800C>A	c.(4798-4800)ccC>ccA	p.P1600P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1600							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGAAGAGGGCAAAGGTT	0.433000													30	63					2.4375e-19	3.18921e-19	1	1	0
HERC2	8924	broad.mit.edu	37	15	28463781	28463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28463781G>A	ENST00000261609.7	-	38	5990	c.5882C>T	c.(5881-5883)gCa>gTa	p.A1961V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1961					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACATCATTGCAGTGGGGTG	0.388000													24	54					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581192	56581192	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56581192G>T	ENST00000323456.5	-	15	1848	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.S518Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	575						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGCATGGAGATGATGCTGG	0.537000													60	107					1.07751e-37	1.45174e-37	1	1	0
AIM1	202	broad.mit.edu	37	6	106968990	106968990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106968990C>A	ENST00000369066.3	+	2	3170	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	895							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAGTCAAATCTTCTGCCCGA	0.463000													33	63					1.56738e-10	1.93657e-10	1	1	0
ATP13A3	79572	broad.mit.edu	37	3	194154501	194154501	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194154501C>A	ENST00000439040.1	-	21	3036	c.2245_splice	c.e21+1	p.G749_splice	ATP13A3_ENST00000256031.4_Splice_Site_p.G749_splice			Q9H7F0	AT133_HUMAN	ATPase type 13A3	749					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGTCTAACCTGTGACCATG	0.333000													6	86					2.0095e-06	2.31757e-06	1	1	0
NKTR	4820	broad.mit.edu	37	3	42680894	42680894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42680894G>A	ENST00000232978.8	+	13	3886	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1233					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGTGTGGGGAACCTGGCA	0.498000													29	26					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921496	77921496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921496C>A	ENST00000529308.1	+	10	2856	c.2595C>A	c.(2593-2595)tgC>tgA	p.C865*	USP35_ENST00000526425.1_Nonsense_Mutation_p.C596*|USP35_ENST00000441408.2_Nonsense_Mutation_p.C451*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Nonsense_Mutation_p.C433*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	865					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTACTACTGCTATGCCCGTG	0.627000													11	144					1.08611e-07	1.2824e-07	1	1	0
ZNF721	170960	broad.mit.edu	37	4	437125	437125	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437125A>G	ENST00000338977.5	-	2	1143	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.N377N|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTGTGTTGATTCAGGGCTG	0.408000													19	40					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118640381	118640381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118640381G>T	ENST00000336338.5	-	7	988	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	308						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGTTTCAGGTTTCTCATT	0.373000													6	66					0.0477658	0.0488009	1	1	0
ZNF280D	54816	broad.mit.edu	37	15	56923983	56923983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56923983G>A	ENST00000559237.1	-	21	3297	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.R885*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATGCTAATCGCAAATCCTTA	0.343000													21	51					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272907	102272907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102272907G>A	ENST00000398136.2	-	3	608	c.188C>T	c.(187-189)aCa>aTa	p.T63I	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T44I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	63	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AGTTTCATTTGTATGGTCAGA	0.413000													50	60					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161159998	161159998	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:161159998G>A	ENST00000348849.3	-	5	833	c.402_splice	c.e5-1	p.Q135_splice	RBMS1_ENST00000409972.1_Splice_Site_p.Q102_splice|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Splice_Site_p.Q102_splice|RBMS1_ENST00000409075.1_Splice_Site_p.Q102_splice|RBMS1_ENST00000392753.3_Splice_Site_p.Q135_splice	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	135	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGTTCCTGTTGCTAAAACAGA	0.358000													9	88					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53013245	53013245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53013245C>T	ENST00000378060.4	-	3	251	c.224G>A	c.(223-225)gGa>gAa	p.G75E	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	75	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTCCCAATTCCAGCCGCCTG	0.403000													10	23					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140049100	140049100	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140049100G>A	ENST00000358337.5	+	7	1250	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	338					rRNA processing	cytoplasm|nucleolus		p.R338H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTCGGCGCAAAAAAAAG	0.592000													5	13					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081988	193081988	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193081988G>A	ENST00000342358.4	-	2	262	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	49					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537000													64	124					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43869405	43869405	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43869405T>C	ENST00000562955.1	+	3	287	c.287T>C	c.(286-288)tTt>tCt	p.F96S	SZT2_ENST00000310739.4_Missense_Mutation_p.F96S|SZT2_ENST00000372450.4_Missense_Mutation_p.F94S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	96						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGTATCGGTTTGTCATTGAG	0.572000													6	102					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39763653	39763653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39763653C>A	ENST00000395670.3	-	3	747	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E110*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E110*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	110	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATACCCAGTTCTTCCTCAACA	0.338000													5	48					0.00198382	0.00210581	1	1	0
RB1	5925	broad.mit.edu	37	13	49039423	49039423	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49039423A>G	ENST00000267163.4	+	23	2546	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	803	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		N -> K (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGAGGGAACATCTATATT	0.423000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	96					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91155895	91155895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91155895G>A	ENST00000357056.2	-	7	1060	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TTC7B_ENST00000328459.6_Silent_p.Y313Y			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	313							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTCTCCTGAGTAGACACGGG	0.483000													7	12					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58386604	58386604	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58386604G>T	ENST00000435505.2	+	16	2048	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000412104.2_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.D412Y|VRK2_ENST00000340157.4_Missense_Mutation_p.D435Y|FANCL_ENST00000233741.4_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	435						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCTCATCAAGATTTTACCAG	0.368000													8	55					0.00448238	0.00472561	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4859858G>A	ENST00000302640.8	+	59	8265	c.7915G>A	c.(7915-7917)Gtc>Atc	p.V2639I	ITPR1_ENST00000456211.2_Missense_Mutation_p.V2591I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2606I|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2606I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2639I|ITPR1_ENST00000544951.1_Missense_Mutation_p.V617I|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2639I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2654					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468000													11	13					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140249367	140249367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249367C>T	ENST00000398640.2	+	1	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCGTTCGGCTGTTAGT	0.413000													8	8					0	0	1	0	0
CDCA3	83461	broad.mit.edu	37	12	6958590	6958590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6958590G>T	ENST00000538862.2	-	5	1449	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	CDCA3_ENST00000229265.6_Missense_Mutation_p.S158Y|CDCA3_ENST00000535406.1_Missense_Mutation_p.S183Y|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000540683.1_Intron			Q99618	CDCA3_HUMAN	cell division cycle associated 3	183					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATTGCGCATAGAACCTGGGGT	0.507000													15	35					1.05317e-09	1.28483e-09	1	1	0
AMPD3	272	broad.mit.edu	37	11	10521710	10521710	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10521710C>T	ENST00000444303.2	+	10	1630	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.D554D	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	545					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACCCGGACGTCTGGACCA	0.567000													8	60					0	0	1	0	0
GCOM1	0	broad.mit.edu	37	15	57924668	57924668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57924668C>T	ENST00000574161.1	+	7	834	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R239*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R239*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.R170*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.R208*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R239*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.R208*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		239					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGAGGTGATGCGAGAGATGAC	0.512000													29	47					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163310177	163310177	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163310177C>A	ENST00000271452.3	+	9	909	c.630C>A	c.(628-630)tcC>tcA	p.S210S	NUF2_ENST00000524800.1_Silent_p.S210S|NUF2_ENST00000367900.3_Silent_p.S210S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	210	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGGAAATTCCCAAAAGAAGT	0.323000													8	99					0.0477658	0.0488009	1	1	0
PRR5	55615	broad.mit.edu	37	22	45110540	45110540	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45110540C>T	ENST00000403581.1	+	4	882	c.273C>T	c.(271-273)aaC>aaT	p.N91N	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N68N|ARHGAP8_ENST00000389773.5_Silent_p.N59N|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Silent_p.N68N|ARHGAP8_ENST00000517296.3_Silent_p.N68N|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N68N	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TCAGCCTCAACGAGGGCGTCC	0.662000													22	43					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161661	43161661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161661G>A	ENST00000352483.2	-	9	1900	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	RIPK4_ENST00000542057.1_Silent_p.S501S|RIPK4_ENST00000332512.3_Silent_p.S564S|RIPK4_ENST00000544709.1_Silent_p.S501S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	564						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCTGCAGGCTCACGTCCA	0.672000													25	50					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748588	64748588	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64748588C>A	ENST00000536360.1	-	5	1602	c.789G>T	c.(787-789)gtG>gtT	p.V263V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGGTAGCCCACCATCATTT	0.383000													31	55					3.80469e-20	4.98859e-20	1	1	0
ATRX	546	broad.mit.edu	37	X	76776353	76776353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776353C>T	ENST00000373344.5	-	34	7327	c.7113G>A	c.(7111-7113)gcG>gcA	p.A2371A	ATRX_ENST00000395603.3_Silent_p.A2333A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2371					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATGCTAACGCCTGTACTT	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						38	56					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138864820	138864820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138864820C>A	ENST00000370557.1	-	18	2865	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	ATP11C_ENST00000361648.2_Missense_Mutation_p.R616I|ATP11C_ENST00000327569.3_Missense_Mutation_p.R616I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R616I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R616I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	616					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATGAGCTGTCTGTTAATTCT	0.368000													34	57					4.4194e-11	5.49217e-11	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118960677	118960677	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118960677A>G	ENST00000334549.1	+	2	231	c.231A>G	c.(229-231)gaA>gaG	p.E77E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	77						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGTGGTGGAAGACAGAAAAC	0.517000													64	99					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233502	57233502	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57233502G>A	ENST00000343433.6	-	5	1143	c.1063_splice	c.e5+1	p.P355_splice	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	355										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCAGACTTACGATCAGCAATT	0.363000													24	59					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155141	94155141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94155141G>A	ENST00000553484.1	+	46	7377	c.7223G>A	c.(7222-7224)cGc>cAc	p.R2408H	UNC79_ENST00000393151.2_Missense_Mutation_p.R2386H|UNC79_ENST00000555664.1_Missense_Mutation_p.R2347H|UNC79_ENST00000256339.4_Missense_Mutation_p.R2209H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2386						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGTGATCCGCTATCTGCCT	0.527000													31	35					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900533	35900533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900533G>A	ENST00000339208.6	-	16	3455	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	SYNRG_ENST00000345615.4_Silent_p.P1027P|SYNRG_ENST00000585472.1_Silent_p.P1026P|SYNRG_ENST00000502449.2_Silent_p.P982P|SYNRG_ENST00000394378.2_Silent_p.P1027P|SYNRG_ENST00000591288.1_Silent_p.P899P|SYNRG_ENST00000346661.4_Silent_p.P1105P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1105					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGCAGGGCGGGCTTCTCAT	0.522000													33	65					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018277	245018277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245018277C>A	ENST00000444376.2	-	13	2599	c.2365G>T	c.(2365-2367)Ggt>Tgt	p.G789C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G808C|HNRNPU-AS1_ENST00000475997.1_RNA	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	808	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACTTACACCCTGCTGCCAC	0.368000													6	65					0.0215528	0.0221649	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152771912	152771912	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771912G>A	ENST00000367255.5	-	27	3844	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	SYNE1_ENST00000367253.4_Silent_p.I1081I|SYNE1_ENST00000341594.5_Silent_p.I1147I|SYNE1_ENST00000265368.4_Silent_p.I1081I|SYNE1_ENST00000413186.2_Silent_p.I1081I|SYNE1_ENST00000448038.1_Silent_p.I1088I|SYNE1_ENST00000367248.3_Silent_p.I1071I|SYNE1_ENST00000423061.1_Silent_p.I1088I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1081					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGTTCCTCGATGAGCTGTA	0.463000										HNSCC(10;0.0054)			21	199					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136901379	136901379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901379G>A	ENST00000303407.7	-	10	1896	c.1711C>T	c.(1711-1713)Ccc>Tcc	p.P571S	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TAGCTCATGGGCAGGCCCTCC	0.607000			T	C15orf55	lethal midline carcinoma of young people								6	46					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341659	85341659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85341659G>A	ENST00000299927.3	+	4	2712	c.2690G>A	c.(2689-2691)tGc>tAc	p.C897Y	ZNF592_ENST00000560079.2_Missense_Mutation_p.C897Y			Q92610	ZN592_HUMAN	zinc finger protein 592	897					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCTGAGTGCCCACTCTTG	0.567000													14	22					0	0	1	0	0
AC004381.6	0	broad.mit.edu	37	16	20838466	20838466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20838466C>A	ENST00000261377.6	+	9	1117	c.908C>A	c.(907-909)cCt>cAt	p.P303H	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.P303H|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P303H	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CTGCTTCCTCCTGATGCTGTG	0.408000													10	131					0.000442599	0.00048047	1	1	0
SOX6	55553	broad.mit.edu	37	11	16007927	16007927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16007927G>T	ENST00000352083.6	-	15	2083	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	SOX6_ENST00000396356.3_Missense_Mutation_p.P649H|SOX6_ENST00000527619.1_Missense_Mutation_p.P645H|SOX6_ENST00000528429.1_Missense_Mutation_p.P669H|SOX6_ENST00000528252.1_Missense_Mutation_p.P642H|SOX6_ENST00000316399.6_Missense_Mutation_p.P649H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	669					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATAATAAGGTTGCTTCTC	0.443000													43	57					3.70713e-34	4.98236e-34	1	1	0
PYGL	5836	broad.mit.edu	37	14	51375006	51375006	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51375006C>A	ENST00000216392.7	-	19	2694	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	PYGL_ENST00000532462.1_Missense_Mutation_p.V788L|PYGL_ENST00000544180.2_Missense_Mutation_p.V754L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	788					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGCTGACTCACTTTATCTTGA	0.303000													4	67					0.00116845	0.00124821	1	1	0
VARS	7407	broad.mit.edu	37	6	31750377	31750377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750377G>T	ENST00000375663.3	-	16	2361	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	641					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCGCCACCAGCACCGCTTTC	0.642000													3	24					0.004672	0.0049138	1	1	0
SEMA4B	10509	broad.mit.edu	37	15	90770825	90770825	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90770825G>T	ENST00000411539.2	+	13	1985	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SEMA4B_ENST00000332496.6_Missense_Mutation_p.K575N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.K570N	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCAGCGCCAAGGACCTTTGCA	0.597000													10	22					4.36969e-10	5.35656e-10	1	1	0
OR6C74	254783	broad.mit.edu	37	12	55641851	55641851	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641851C>A	ENST00000343870.4	+	1	870	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTGAAACCCTCAGCAAAAG	0.403000													6	81					0.0215528	0.0221649	1	1	0
SRSF4	6429	broad.mit.edu	37	1	29475269	29475269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29475269G>A	ENST00000373795.4	-	6	1372	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	380	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	p.R380*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ttgctgcctcgctttctgctc	0.592000													21	49					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3735606	3735606	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3735606A>T	ENST00000541714.2	+	9	1491	c.1029A>T	c.(1027-1029)agA>agT	p.R343S	TJP3_ENST00000587686.1_Missense_Mutation_p.R362S|TJP3_ENST00000589378.1_Missense_Mutation_p.R352S|TJP3_ENST00000262968.9_Missense_Mutation_p.R376S|TJP3_ENST00000539908.2_Missense_Mutation_p.R307S|TJP3_ENST00000382008.3_Missense_Mutation_p.R357S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	357						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGATTCCAGAACCATCTCGG	0.557000													6	115					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58559183	58559183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559183C>T	ENST00000317147.5	-	46	7016	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_ENST00000569240.1_Silent_p.A2223A|CNOT1_ENST00000245138.4_Silent_p.A1079A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.A2228A(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493000													18	46					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65223741	65223741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65223741G>T	ENST00000380230.3	+	8	755	c.726G>T	c.(724-726)caG>caT	p.Q242H	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q242H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	242					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTGTGTGCAGCTCCTCCTCA	0.622000													13	15					1.61879e-10	1.99744e-10	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118373689	118373689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118373689C>T	ENST00000534358.1	+	27	7105	c.7082C>T	c.(7081-7083)tCg>tTg	p.S2361L	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2358L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2320L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCTTCAGTGTCGTTTTCTTCT	0.463000													4	60					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621775	58621775	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58621775A>T	ENST00000317147.5	-	4	550	c.218T>A	c.(217-219)tTt>tAt	p.F73Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.F73Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.F73Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	73					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAATCAGAAACTGAGTCTT	0.348000													30	35					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34113774	34113774	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34113774C>A	ENST00000389232.4	+	80	11036	c.10966C>A	c.(10966-10968)Ctg>Atg	p.L3656M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3651M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3656					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCGCCATTCTGAACGGAGG	0.542000													24	31					4.87955e-14	6.21198e-14	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27789064	27789064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27789064G>A	ENST00000261588.4	+	26	4704	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1562										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGGACATCCGCCACCAGGAG	0.657000													24	38					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789891	248789891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789891G>A	ENST00000330803.2	-	1	600	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCAGAACTGCTGGGATCTC	0.493000													11	67					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103092422	103092422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103092422T>C	ENST00000374902.4	-	6	1456	c.1280A>G	c.(1279-1281)aAc>aGc	p.N427S	TEX10_ENST00000537512.1_Missense_Mutation_p.N362S|TEX10_ENST00000535814.1_Missense_Mutation_p.N430S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	427						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGATCTATGTTATTGGAGAG	0.373000													69	85					0	0	1	0	0
KRT16P2	0	broad.mit.edu	37	17	16735787	16735787	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16735787G>A	ENST00000579062.1	-	0	225																											caccaccgacgccagcaccaa	0.647000													5	15					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76147930	76147930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76147930G>A	ENST00000298832.9	+	4	429	c.224G>A	c.(223-225)cGc>cAc	p.R75H	TTLL5_ENST00000286650.5_Missense_Mutation_p.R75H|TTLL5_ENST00000556977.1_Missense_Mutation_p.R75H|TTLL5_ENST00000557636.1_Missense_Mutation_p.R75H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	75	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGGACAGTCGCCTAGTACGC	0.358000													41	68					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568686	40568686	+	Silent	SNP	G	G	T	rs143446666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40568686G>T	ENST00000342449.3	-	41	6387	c.6309C>A	c.(6307-6309)acC>acA	p.T2103T	BRWD1_ENST00000333229.2_Silent_p.T2103T|BRWD1_ENST00000380800.3_Silent_p.T2103T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTCCATAGGTCCTGAGTC	0.423000													14	205					1.05317e-09	1.28483e-09	1	1	0
RRP12	23223	broad.mit.edu	37	10	99144989	99144989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99144989T>C	ENST00000370992.4	-	10	1253	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	RRP12_ENST00000414986.1_Missense_Mutation_p.E320G|RRP12_ENST00000315563.6_Missense_Mutation_p.E281G|RRP12_ENST00000536831.1_Missense_Mutation_p.E99G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	381						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527000													7	87					0	0	1	0	0
ITGA6	0	broad.mit.edu	37	2	173332215	173332215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173332215C>T	ENST00000375221.2	+	3	517	c.314C>T	c.(313-315)cCc>cTc	p.P105L	ITGA6_ENST00000264106.6_Missense_Mutation_p.P105L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P105L|ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000409080.1_Missense_Mutation_p.P105L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P105L			P23229	ITA6_HUMAN	integrin, alpha 6	105					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCTGACCCCACGTCAGAA	0.498000													19	40					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408651	72408651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408651C>T	ENST00000359373.5	-	20	3632	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E	ARAP1_ENST00000426523.1_Silent_p.E682E|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Silent_p.E927E|ARAP1_ENST00000334211.8_Silent_p.E682E|ARAP1_ENST00000393609.3_Silent_p.E927E|ARAP1_ENST00000429686.1_Silent_p.E621E|ARAP1_ENST00000393605.3_Silent_p.E687E			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	927					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACCTCCTTCGCTCCACCAGCA	0.632000													34	54					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241270	129241270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129241270T>C	ENST00000305031.4	+	1	1106	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	250						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCACGACCACTACCTGGACAA	0.592000													8	106					0	0	1	0	0
CSTB	1476	broad.mit.edu	37	21	45194539	45194539	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45194539C>A	ENST00000291568.5	-	2	343	c.168_splice	c.e2+1	p.K56_splice		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	56						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CACACTCTACCTTGATGAAGT	0.587000													26	29					2.48779e-11	3.09936e-11	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201052448	201052448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201052448C>T	ENST00000362061.3	-	10	1461	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R412Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCAATGTCGGCTGAGGGA	0.547000													44	53					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152422294	152422294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152422294C>T	ENST00000427231.2	-	115	18399	c.18197G>A	c.(18196-18198)gGc>gAc	p.G6066D	NEB_ENST00000409198.1_Missense_Mutation_p.G4365D|NEB_ENST00000397345.3_Missense_Mutation_p.G6066D|NEB_ENST00000603639.1_Missense_Mutation_p.G6066D|NEB_ENST00000604864.1_Missense_Mutation_p.G6066D|NEB_ENST00000172853.10_Missense_Mutation_p.G4365D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6060					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGATCCAGCCAATGCCTCG	0.478000													4	9					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380253	147380253	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380253G>A	ENST00000240986.4	+	2	224	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GJA8_ENST00000369235.1_Silent_p.Q57Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	57					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAACACCCAGCAGCCTGGCT	0.597000													30	29					0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16359019	16359019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16359019T>C	ENST00000399336.4	+	15	1961	c.1789T>C	c.(1789-1791)Tct>Cct	p.S597P	NOMO3_ENST00000263012.6_Missense_Mutation_p.S597P|NOMO3_ENST00000538468.1_Missense_Mutation_p.S430P	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	597						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGTTCCCTGTCTCACGCCAT	0.498000													19	45					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468952	52468952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52468952G>A	ENST00000243644.4	-	5	981	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTCGCTGATGTTCAGTAAGC	0.428000													11	93					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45988979	45988979	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45988979G>T	ENST00000590526.1	-	11	1929	c.803C>A	c.(802-804)gCc>gAc	p.A268D	RTN2_ENST00000430715.2_Missense_Mutation_p.A202D|RTN2_ENST00000245923.4_Missense_Mutation_p.A542D|RTN2_ENST00000344680.4_Missense_Mutation_p.A469D			O75298	RTN2_HUMAN	reticulon 2	542						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCGGCTTTGGCTTTGGATCC	0.652000											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	49					1.17739e-12	1.48344e-12	1	1	0
HTR1D	3352	broad.mit.edu	37	1	23520460	23520460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23520460G>T	ENST00000374619.1	-	1	762	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L85I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	85					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAACCAAGAGGTCGGTGGTG	0.532000													9	102					0.000274275	0.000298791	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50085330	50085330	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50085330A>C	ENST00000376042.1	+	9	3944	c.3646A>C	c.(3646-3648)Aaa>Caa	p.K1216Q	CCNB3_ENST00000276014.7_Missense_Mutation_p.K1216Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.K112Q|CCNB3_ENST00000376038.1_Missense_Mutation_p.K112Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1216					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATTGCAGCAAAATTTGAGGT	0.408000													18	31					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945750	72945750	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72945750C>A	ENST00000311131.2	+	3	1013	c.546C>A	c.(544-546)acC>acA	p.T182T	P2RY2_ENST00000393597.2_Silent_p.T182T|P2RY2_ENST00000393596.2_Silent_p.T182T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGCGTAACCTGCCACGACA	0.692000													14	15					1.49906e-05	1.69169e-05	1	1	0
TEX10	54881	broad.mit.edu	37	9	103109222	103109222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109222C>T	ENST00000374902.4	-	3	823	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TEX10_ENST00000537512.1_Missense_Mutation_p.R151Q|TEX10_ENST00000535814.1_Missense_Mutation_p.R219Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	216						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGTGAGTCTCCGATTAGGATT	0.418000													25	44					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62374475	62374475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62374475G>A	ENST00000394773.2	-	12	1766	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.R488W|EML3_ENST00000529309.1_Missense_Mutation_p.R487W|EML3_ENST00000494176.2_Missense_Mutation_p.R459W|EML3_ENST00000531557.1_Missense_Mutation_p.R270W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGGGCTCCGCCCCCAGGTG	0.542000													22	34					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292407	33292407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292407C>A	ENST00000280979.4	+	13	5558	c.5388C>A	c.(5386-5388)gaC>gaA	p.D1796E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1796					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGGGCTAGACTACATAAAGA	0.403000													26	36					1.17739e-12	1.48344e-12	1	1	0
AAR2	25980	broad.mit.edu	37	20	34828309	34828309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34828309C>T	ENST00000373932.3	+	2	865	c.519C>T	c.(517-519)cgC>cgT	p.R173R	AAR2_ENST00000397286.3_Silent_p.R173R|AAR2_ENST00000320849.4_Silent_p.R173R	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CCAAGGACCGCGTGGGGCAGA	0.582000													36	59					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50050630	50050630	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50050630A>G	ENST00000354234.4	+	6	1230	c.324A>G	c.(322-324)gaA>gaG	p.E108E	SETDB2_ENST00000258672.5_Silent_p.E108E|SETDB2_ENST00000317257.8_Silent_p.E120E	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	120					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AAAATAAGGAAATTCTCTCTC	0.284000													3	104					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802500	222802500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222802500C>T	ENST00000344922.5	+	4	1963	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D646D|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	646					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AACTGGAAGACGAGGTTCCCA	0.443000													71	88					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155169847	155169847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155169847C>A	ENST00000368378.3	-	15	1786	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R118M|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R469M|THBS3_ENST00000428962.2_Missense_Mutation_p.G386W|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541576.1_De_novo_Start_InFrame	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	589					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTCATCCCTGTCTGTCTG	0.532000													11	63					0.000978159	0.00105116	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52434366	52434366	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52434366T>C	ENST00000420323.2	+	78	12963	c.12702T>C	c.(12700-12702)tcT>tcC	p.S4234S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4299					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGACACTCTACCAACTATG	0.557000													64	90					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562966	29562966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29562966C>A	ENST00000358273.4	+	29	4284	c.3901C>A	c.(3901-3903)Ctg>Atg	p.L1301M	NF1_ENST00000356175.3_Missense_Mutation_p.L1301M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1301	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	119					0.014758	0.0152625	1	1	0
ZNF280D	54816	broad.mit.edu	37	15	56993223	56993223	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56993223T>A	ENST00000559237.1	-	5	933	c.250A>T	c.(250-252)Aca>Tca	p.T84S	ZNF280D_ENST00000558320.1_Missense_Mutation_p.T97S|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T84S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.T97S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGATTTGATGTTGGATTCGTG	0.338000													7	73					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55919209	55919209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55919209G>A	ENST00000389286.4	-	17	2971	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	975					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AACACACCTGGCTTTACTTCG	0.418000													24	33					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902780	206902780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206902780A>G	ENST00000367103.3	+	4	717	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q175R	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	175	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGGCCATCCAGTATCTGCAT	0.522000													25	223					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112362340	112362340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112362340G>T	ENST00000361804.4	+	26	3340	c.3214G>T	c.(3214-3216)Gaa>Taa	p.E1072*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1072					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGATGAAGGAGAAGGGAGTGG	0.453000													5	47					0.000602214	0.000649039	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93768689	93768689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93768689C>T	ENST00000265990.6	+	27	4225	c.3917C>T	c.(3916-3918)gCa>gTa	p.A1306V	BTAF1_ENST00000544642.1_Missense_Mutation_p.A134V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1306	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCATTCTAGCAGGAGATCAT	0.328000													13	72					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85790441	85790441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85790441C>A	ENST00000284031.8	-	5	817	c.723G>T	c.(721-723)gaG>gaT	p.E241D	DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D|DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	241					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTCTGGATACTCTTCCGGGG	0.473000													6	105					0.00198382	0.00210581	1	1	0
TMPRSS7	344805	broad.mit.edu	37	3	111782478	111782478	+	Splice_Site	SNP	C	C	T	rs150107555	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111782478C>T	ENST00000452346.2	+	12	1557	c.1555_splice	c.e12+1	p.C518_splice	TMPRSS7_ENST00000419127.1_Splice_Site_p.C392_splice			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	518	LDL-receptor class A 1.|LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTGTTTTGCGGTGGGTATT	0.378000													60	80					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71918256	71918256	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71918256C>T	ENST00000266674.5	+	3	666	c.356_splice	c.e3+1	p.L119_splice	LGR5_ENST00000540815.2_Splice_Site_p.L119_splice|LGR5_ENST00000536515.1_Splice_Site_p.L119_splice			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	119						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTAAAGTTCTGTAAGTAAA	0.393000													18	42					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040979	88040979	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040979G>A	ENST00000319595.4	+	1	1134	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	360					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTCCAAAAGCTTGTGCGAT	0.338000													4	49					0	0	1	0	0
NICN1	84276	broad.mit.edu	37	3	49462403	49462403	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49462403G>A	ENST00000273598.3	-	5	665	c.579C>T	c.(577-579)tcC>tcT	p.S193S	NICN1_ENST00000436744.2_Silent_p.S155S|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	193						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGATCCTTGCGGAGGTGTGAC	0.562000													8	23					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690594	99690594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99690594C>T	ENST00000303887.5	-	15	2766	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.W531*|MCM7_ENST00000343023.6_Nonsense_Mutation_p.W377*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	707	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATTGACCTGCCAGACATTGA	0.587000													36	29					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510426	9510426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9510426C>T	ENST00000246070.2	+	6	1294	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	LAMP5_ENST00000427562.2_Nonsense_Mutation_p.Q224*	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	268						integral to membrane											CAACCAGGTGCAGATCCCTCG	0.542000													18	35					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621802	65621802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65621802G>A	ENST00000327987.4	-	13	2382	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	711								p.R711C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATATCCACACGTTTCTCGTCT	0.652000													62	90					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756344G>T	ENST00000330500.2	-	1	756	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463000													21	46					3.62473e-10	4.44982e-10	1	1	0
DUXA	503835	broad.mit.edu	37	19	57669820	57669820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57669820C>T	ENST00000554048.2	-	4	313	c.314G>A	c.(313-315)cGt>cAt	p.R105H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTAGGTGGTACGACACCGTCT	0.468000													5	51					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508317	36508317	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508317A>G	ENST00000360535.4	-	12	1714	c.1487T>C	c.(1486-1488)gTt>gCt	p.V496A	CLIP3_ENST00000593074.1_Missense_Mutation_p.V496A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	496	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCTCCAACGCTGTCCCC	0.562000													12	21					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415540	178415540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178415540C>A	ENST00000408939.2	-	1	2202	c.1952G>T	c.(1951-1953)aGg>aTg	p.R651M		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	651					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTTTAACTGCCTAGACTCATA	0.358000													29	82					5.6714e-07	6.62436e-07	1	1	0
SP6	80320	broad.mit.edu	37	17	45924776	45924776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45924776C>A	ENST00000536300.1	-	2	1351	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SP6_ENST00000342234.2_Missense_Mutation_p.K340N	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGCCTCCTCCTTGGCGCCCT	0.706000													9	11					0.00448238	0.00472561	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67272032	67272032	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272032C>A	ENST00000258201.4	-	6	795		c.e6-1		FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGCCGAGCGCTGGGGAAACA	0.592000													6	75					0.0215528	0.0221649	1	1	0
TMEM177	80775	broad.mit.edu	37	2	120438559	120438559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120438559T>C	ENST00000424086.1	+	2	603	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	TMEM177_ENST00000272521.6_Missense_Mutation_p.W44R|TMEM177_ENST00000401466.1_Missense_Mutation_p.W44R|TMEM177_ENST00000409951.1_Missense_Mutation_p.W44R|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	44						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGGTCCAATGGCTCTACCA	0.582000													9	105					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779332	229779332	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229779332C>A	ENST00000258243.2	+	5	3823	c.3687C>A	c.(3685-3687)gcC>gcA	p.A1229A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1229						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTGGGAGCCTTGTTCACCC	0.453000													15	122					2.23348e-06	2.57349e-06	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71736512	71736512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71736512C>T	ENST00000393524.2	-	2	1140	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PHLPP2_ENST00000567016.1_Missense_Mutation_p.R171Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R136Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	136						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCATAAAATCGAATCATACA	0.403000													30	36					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3352234	3352234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3352234G>A	ENST00000573128.1	-	6	1022	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SPATA22_ENST00000575375.1_Missense_Mutation_p.S180L|SPATA22_ENST00000397168.3_Missense_Mutation_p.S180L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S164L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S180L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S137L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S180L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	180										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TATTTTTGATGAATGTGTTTG	0.383000													17	209					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53139925	53139925	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53139925G>T	ENST00000542638.1	-	5	906	c.459C>A	c.(457-459)atC>atA	p.I153I	ELOVL5_ENST00000541407.1_Silent_p.I180I|ELOVL5_ENST00000304434.6_Silent_p.I153I|ELOVL5_ENST00000370918.4_Silent_p.I143I			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	153					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAAACCACCAGATGTTCAGCA	0.507000													8	35					0.00307968	0.00325696	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11556116	11556116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11556116C>A	ENST00000262442.3	+	14	2460	c.2392C>A	c.(2392-2394)Cat>Aat	p.H798N	DNAH9_ENST00000454412.2_Missense_Mutation_p.H798N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	798	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTAGTATTCATGATCTTGA	0.363000													40	77					6.1244e-12	7.67368e-12	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21825521	21825521	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21825521G>T	ENST00000216297.2	-	22	2833	c.2495C>A	c.(2494-2496)cCt>cAt	p.P832H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	832					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CACCACAAAAGGTGGCTGTCA	0.388000													4	27					0.184627	0.186383	1	1	0
PTGFR	5737	broad.mit.edu	37	1	79002308	79002308	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002308A>C	ENST00000370757.3	+	3	1253	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	PTGFR_ENST00000370758.1_Missense_Mutation_p.K339T|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	339					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGTTCCATTAAAAATTCCTTA	0.418000													9	93					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118199236G>A	ENST00000425217.1	-	4	533	c.479C>T	c.(478-480)cCg>cTg	p.P160L	KSR2_ENST00000339824.5_Missense_Mutation_p.P189L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637000													6	43					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47799936	47799936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47799936C>T	ENST00000240364.2	-	3	466	c.387G>A	c.(385-387)gaG>gaA	p.E129E	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	129										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACCTTCTAGCTCTTGCCAGG	0.572000													11	9					0	0	1	0	0
BLOC1S5-TXNDC5	0	broad.mit.edu	37	6	7891855	7891855	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7891855T>G	ENST00000539054.1	-	5	514	c.516_splice	c.e5+1	p.K172_splice	TXNDC5_ENST00000473453.1_Splice_Site_p.K136_splice|BLOC1S5-TXNDC5_ENST00000604490.1_Splice_Site_p.K136_splice|TXNDC5_ENST00000379757.4_Splice_Site_p.K244_splice																							TTCACTCACCTTGCCAATCTT	0.498000													5	42					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206605345	206605345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206605345G>T	ENST00000360409.3	+	8	2040	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	NRP2_ENST00000357785.5_Missense_Mutation_p.G417C|NRP2_ENST00000272849.3_Missense_Mutation_p.G417C|NRP2_ENST00000355117.4_Missense_Mutation_p.G417C|NRP2_ENST00000357118.4_Missense_Mutation_p.G417C|NRP2_ENST00000417189.1_Missense_Mutation_p.G417C|NRP2_ENST00000540841.1_Missense_Mutation_p.G417C|NRP2_ENST00000412873.2_Missense_Mutation_p.G417C|NRP2_ENST00000540178.1_Missense_Mutation_p.G417C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	417	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCACTCAGGTATCGCCCT	0.582000													4	57					0.150653	0.152692	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17434413	17434413	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17434413C>T	ENST00000262545.2	+	9	1227	c.912C>T	c.(910-912)taC>taT	p.Y304Y	PCSK2_ENST00000377899.1_Silent_p.Y285Y|PCSK2_ENST00000536609.1_Silent_p.Y269Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	304	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGCATCTACGTGTGGGCCT	0.677000													4	61					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060811	189060811	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189060811C>T	ENST00000332517.3	+	1	239	c.99C>T	c.(97-99)caC>caT	p.H33H		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	33					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGTGTGGGCACAGCTTTTGTC	0.517000													6	231					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846354	3846354	+	Missense_Mutation	SNP	G	G	A	rs143089997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3846354G>A	ENST00000428216.2	+	7	1311	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A254T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	395					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCCAACACCCGCCGGCGCCAC	0.637000													6	3					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49950231	49950231	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950231A>G	ENST00000257981.6	+	13	2807	c.2547A>G	c.(2545-2547)gaA>gaG	p.E849E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	849					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCGGAATGTAGCAGCA	0.617000													9	51					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186002489	186002489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186002489C>T	ENST00000265022.3	-	7	1093	c.554G>A	c.(553-555)cGc>cAc	p.R185H	DGKG_ENST00000544847.1_Missense_Mutation_p.R185H|DGKG_ENST00000344484.4_Missense_Mutation_p.R185H|DGKG_ENST00000382164.4_Missense_Mutation_p.R185H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATCATAGAGGCGAAACATGAC	0.483000													17	44					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	379793	379793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:379793C>T	ENST00000432829.2	+	21	2575	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	DOCK8_ENST00000469391.1_Silent_p.F753F|DOCK8_ENST00000382329.1_Silent_p.F288F|DOCK8_ENST00000382331.1_Silent_p.F123F|DOCK8_ENST00000453981.1_Silent_p.F821F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	821					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTTTGCCTTCGAGTCCGTGG	0.557000													9	12					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128322	153128322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153128322G>A	ENST00000370060.1	-	29	3759	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	L1CAM_ENST00000361981.3_Silent_p.S1181S|L1CAM_ENST00000370057.3_Silent_p.S1190S|L1CAM_ENST00000370055.1_Silent_p.S1181S|L1CAM_ENST00000361699.4_Silent_p.S1186S|L1CAM_ENST00000543994.1_Silent_p.S1192S|L1CAM_ENST00000538883.1_Silent_p.S1188S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1190					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGGCTGCTGCCAAAGG	0.632000													7	10					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121461853	121461853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461853G>A	ENST00000339275.5	-	4	929	c.745C>T	c.(745-747)Cct>Tct	p.P249S	OASL_ENST00000257570.5_Silent_p.C329C	NM_198213.2	NP_937856.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	0					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTTCAGGCACTGGGAGG	0.572000													22	37					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412185	72412185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72412185G>A	ENST00000340595.3	+	16	2625	c.2429G>A	c.(2428-2430)aGt>aAt	p.S810N	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S854N|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S854N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	854						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACATCGACAGTTTGAAGATG	0.478000													22	37					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526083	150526083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150526083G>A	ENST00000271643.4	+	6	852	c.616G>A	c.(616-618)Gca>Aca	p.A206T	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A206T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A206T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	206					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATTCTCCGCAAACGGCAG	0.587000													20	51					0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100959652	100959652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100959652G>A	ENST00000517481.1	-	5	517	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RABL5_ENST00000437644.2_Silent_p.G96G|RABL5_ENST00000498704.2_Silent_p.G49G|RABL5_ENST00000315322.4_Silent_p.G126G|RABL5_ENST00000495166.1_5'UTR			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	126							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CATCTCCAGAGCCTGGTTTGT	0.448000													65	50					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204849	5204849	+	Silent	SNP	G	G	A	rs140274935		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5204849G>A	ENST00000334314.3	-	2	304	c.228C>T	c.(226-228)acC>acT	p.T76T						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCTCTTGACGGTACCATCAG	0.418000													25	177					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114246748	114246748	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114246748C>A	ENST00000369604.1	-	15	2328	c.1845G>T	c.(1843-1845)tcG>tcT	p.S615S	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.S562S|PHTF1_ENST00000369598.1_Silent_p.S570S|PHTF1_ENST00000357783.2_Silent_p.S615S|PHTF1_ENST00000393357.2_Silent_p.S615S|PHTF1_ENST00000369596.2_Silent_p.S562S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGAAAACCGAGGATACAA	0.423000													13	12					9.05144e-12	1.1316e-11	1	1	0
FLNC	2318	broad.mit.edu	37	7	128488685	128488685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128488685G>A	ENST00000325888.8	+	27	4912	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	FLNC_ENST00000346177.6_Missense_Mutation_p.A1551T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1551					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTCAACGCCTCTGGCAT	0.622000													21	114					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65082989	65082989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65082989G>A	ENST00000358691.5	-	32	5616	c.5450C>T	c.(5449-5451)cCg>cTg	p.P1817L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473000													38	69					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271665	9271665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9271665C>T	ENST00000247956.6	+	7	1649	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	ZNF317_ENST00000360385.3_Silent_p.C416C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATACGGGTGCGATCTCTGCG	0.547000													13	19					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941538	144941538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941538C>T	ENST00000525985.1	-	2	5955	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K				P58107	EPIPL_HUMAN	epiplakin 1	1962						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCTCCTCGTTCACCAGG	0.652000													32	48					0	0	1	0	0
FAM109B	150368	broad.mit.edu	37	22	42473371	42473371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42473371G>A	ENST00000321753.3	+	3	261	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	25	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGCTTCCTGCGCACCTGGGGG	0.622000													31	49					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47868156	47868156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47868156G>A	ENST00000396105.1	-	13	3466	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1074							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGCACATACGGTGCTGAAAA	0.433000													5	16					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22275310	22275310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22275310G>A	ENST00000359741.5	+	8	1469	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	SLC39A14_ENST00000381237.1_Missense_Mutation_p.A432T|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A432T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	432						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TTTTGCGCTAGCTGGAGGAAT	0.512000													18	33					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153637767	153637767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153637767G>A	ENST00000361891.4	-	8	631	c.506C>T	c.(505-507)tCt>tTt	p.S169F		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	169	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGCATCAGAAGAACTGAT	0.353000													30	58					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198661	52198661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198661G>A	ENST00000371471.2	-	2	1130	c.705C>T	c.(703-705)cgC>cgT	p.R235R	ZNF217_ENST00000302342.3_Silent_p.R235R			O75362	ZN217_HUMAN	zinc finger protein 217	235					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGTGCACCTTGCGGTGCTCAA	0.517000													31	69					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097545	32097545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32097545G>A	ENST00000375156.3	-	2	283	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	5					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTATTGACTGGTGGCGTCTCC	0.473000													11	15					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24582270	24582270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24582270A>G	ENST00000358321.3	+	10	1790	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	510	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCGTCCAGGAGGGCAACTCA	0.652000													8	22					0	0	1	0	0
MFAP2	4237	broad.mit.edu	37	1	17303034	17303034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303034C>T	ENST00000375535.3	-	6	537	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.G82E|MFAP2_ENST00000375534.3_Missense_Mutation_p.G82E			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	83						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGCATTTCCTGGTTCTGG	0.607000													19	37					0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71913627	71913627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71913627C>A	ENST00000373238.1	-	6	804	c.447G>T	c.(445-447)gaG>gaT	p.E149D	SAR1A_ENST00000373242.1_Missense_Mutation_p.E149D|SAR1A_ENST00000373241.4_Missense_Mutation_p.E149D|SAR1A_ENST00000431664.2_Missense_Mutation_p.E149D|SAR1A_ENST00000458634.2_Missense_Mutation_p.E106D			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	149					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCCCAAATATCTCACGGAGTT	0.348000													18	223					1.67942e-08	2.01326e-08	1	1	0
CAMK1G	57172	broad.mit.edu	37	1	209778919	209778919	+	Missense_Mutation	SNP	G	G	A	rs144255822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209778919G>A	ENST00000009105.1	+	5	580	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R112Q			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCCTGGAGCGGGGTGTCTAC	0.493000													8	109					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68379675	68379675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68379675A>G	ENST00000339507.5	+	10	1855	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	PRMT7_ENST00000441236.1_Missense_Mutation_p.Y292C|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y292C|PRMT7_ENST00000348497.4_Missense_Mutation_p.Y268C			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	342					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CACGATGACTACTGCGTATGG	0.567000													5	115					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467152	33467152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33467152G>A	ENST00000379471.2	-	14	1921	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R560C			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	612					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAATAAGGCGCTTCTGGGAC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	24					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453412	32453412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32453412G>A	ENST00000341377.5	+	2	684	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NRG1_ENST00000287840.5_Missense_Mutation_p.R56Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R35Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R56Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R271Q|NRG1_ENST00000405005.2_Missense_Mutation_p.R56Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R56Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R56Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R56Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R56Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R56Q			Q02297	NRG1_HUMAN	neuregulin 1	56	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGTCCTTCGGTGTGAAACC	0.398000													56	78					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192750	50192750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50192750C>A	ENST00000216267.8	-	3	2028	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	BRD1_ENST00000542442.1_Missense_Mutation_p.E207D|BRD1_ENST00000342989.5_Missense_Mutation_p.E109D|BRD1_ENST00000457780.2_Missense_Mutation_p.E514D|BRD1_ENST00000404034.1_Missense_Mutation_p.E514D|BRD1_ENST00000404760.1_Missense_Mutation_p.E514D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	514					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGCCTTCATCTCCTCATCAT	0.572000													4	42					0.00024832	0.0002712	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38662422	38662422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38662422T>C	ENST00000413689.1	-	5	716	c.523A>G	c.(523-525)Aag>Gag	p.K175E	SCN5A_ENST00000451551.2_Missense_Mutation_p.K175E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K175E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K175E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K175E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K175E|SCN5A_ENST00000333535.4_Missense_Mutation_p.K175E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K175E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K175E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K175E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCAGAATCTTGACCAGAGAC	0.552000													3	28					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289153	31289153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31289153G>A	ENST00000332585.6	+	9	2018	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	OSBP2_ENST00000382310.3_Silent_p.K589K|OSBP2_ENST00000403222.3_Silent_p.K472K|OSBP2_ENST00000446658.2_Silent_p.K637K|OSBP2_ENST00000407373.1_Silent_p.K465K|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000401475.1_Silent_p.K271K|OSBP2_ENST00000535268.1_Silent_p.K182K|OSBP2_ENST00000437268.2_Silent_p.K380K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	638					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTTCTCCAAGCATGGCTGGA	0.597000													9	21					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73441590	73441590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73441590A>G	ENST00000556143.1	-	10	2604	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	ZFYVE1_ENST00000394207.2_Silent_p.C213C|ZFYVE1_ENST00000318876.5_Silent_p.C614C|ZFYVE1_ENST00000555072.1_Silent_p.C213C|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.C628C	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	628						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACAGCTGTCACAGAAGCCCT	0.567000													17	35					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582000													27	21					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43172550	43172550	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43172550C>T	ENST00000252050.4	+	22	4488	c.4404C>T	c.(4402-4404)agC>agT	p.S1468S	CUL9_ENST00000372647.2_Silent_p.S1468S|CUL9_ENST00000354495.3_Silent_p.S1358S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1468					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCAGCAGCCTGAGGAACA	0.592000													45	85					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2130455	2130455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2130455G>A	ENST00000355272.6	-	6	750	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	AP3D1_ENST00000345016.5_Missense_Mutation_p.R182C|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	182					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCAGGGCGCAGCGACTCG	0.607000													40	46					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60859101	60859101	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60859101G>T	ENST00000313733.3	+	10	1074		c.e10-1		OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Splice_Site	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2						lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388000													30	40					8.16721e-17	1.05573e-16	1	1	0
SMAD2	4087	broad.mit.edu	37	18	45396887	45396887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45396887C>A	ENST00000402690.2	-	3	679	c.285G>T	c.(283-285)caG>caT	p.Q95H	SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q95H|SMAD2_ENST00000591214.1_Intron	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	95	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTGTATCCCACTGATCTATCG	0.408000													12	144					0.00136819	0.00146042	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214546151	214546151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214546151A>G	ENST00000366956.5	-	16	3133	c.2939T>C	c.(2938-2940)aTa>aCa	p.I980T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	980	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGTGGCTATGTAGTGCCA	0.542000													22	42					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99879293	99879293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99879293C>T	ENST00000331768.5	-	8	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	SETD3_ENST00000436070.2_Missense_Mutation_p.G282S|SETD3_ENST00000329331.3_Missense_Mutation_p.G282S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	282	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GTTACCAGGCCGTTGGTGTGG	0.517000													24	42					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556246	7556246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7556246A>G	ENST00000313599.3	-	6	1350	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	CD163L1_ENST00000416109.2_Silent_p.I441I|CD163L1_ENST00000396630.1_Silent_p.I431I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	431	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTTATCCAAATGTCTCTAG	0.463000													9	107					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362885	36362885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36362885A>G	ENST00000221891.4	+	6	989	c.797A>G	c.(796-798)gAa>gGa	p.E266G	APLP1_ENST00000537454.2_Missense_Mutation_p.E227G|APLP1_ENST00000586861.1_Missense_Mutation_p.E260G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	266	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGAAGAGGAAGAGGAAACG	0.597000													10	144					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76842225	76842225	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76842225T>G	ENST00000286733.4	-	6	819	c.718A>C	c.(718-720)Act>Cct	p.T240P	NAAA_ENST00000507956.1_Missense_Mutation_p.T240P|NAAA_ENST00000399497.3_Missense_Mutation_p.T240P|NAAA_ENST00000505594.1_Missense_Mutation_p.T139P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	240				T -> S (in Ref. 4; AAA60119).	lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATAAGGGGAGTCTTGGCCAAC	0.547000													4	30					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26431066	26431066	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26431066G>T	ENST00000466808.2	+	0	1447																											CCTCCAGGGAGAGCATTCCGG	0.527000													23	42					9.95505e-16	1.27953e-15	1	1	0
FER1L6	654463	broad.mit.edu	37	8	124992896	124992896	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124992896C>A	ENST00000522917.1	+	11	1461	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L419M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCAAGGCCCTGAAGGAGCT	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	74					0.00116845	0.00124821	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78023713	78023713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023713G>T	ENST00000397545.4	+	6	891	c.864G>T	c.(862-864)atG>atT	p.M288I	CCDC40_ENST00000374876.4_Missense_Mutation_p.M288I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M288I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M288I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	288					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCCTGATGGTAAGATTCC	0.567000													3	25					0.004672	0.0049138	1	1	0
ADAMTS10	81794	broad.mit.edu	37	19	8651767	8651767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651767G>A	ENST00000270328.4	-	18	2438	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	ADAMTS10_ENST00000597188.1_Silent_p.V724V|ADAMTS10_ENST00000595838.1_Silent_p.V211V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	724	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAATCCAGACGACATCCTCGT	0.572000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	37					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054475	94054475	+	Missense_Mutation	SNP	G	G	T	rs121912900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94054475G>T	ENST00000297268.6	+	42	3191	c.2720G>T	c.(2719-2721)gGt>gTt	p.G907V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	907					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCCCGTGGTCCTCCTGGT	0.522000										HNSCC(75;0.22)			16	55					7.07596e-05	7.86387e-05	1	1	0
NOD1	10392	broad.mit.edu	37	7	30491398	30491398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30491398C>A	ENST00000222823.4	-	6	2160	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	545					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATCCACTCCTGGAAGAACC	0.627000													13	129					1.61879e-10	1.99744e-10	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680457	18680457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680457C>T	ENST00000380548.4	+	11	1623	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	ADAMTSL1_ENST00000276935.6_Silent_p.I428I|ADAMTSL1_ENST00000327883.7_Silent_p.I428I|ADAMTSL1_ENST00000380566.4_Silent_p.I411I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	428						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGATGCCCATCGCGCAGCCCT	0.527000													4	73					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128724232	128724232	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128724232G>T	ENST00000371113.4	+	24	2856	c.2691G>T	c.(2689-2691)ggG>ggT	p.G897G	OCRL_ENST00000357121.5_Silent_p.G889G	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	897	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTGCTTGGGAGCGAAGAAG	0.478000													7	266					0.0293803	0.0301098	1	1	0
NRP2	8828	broad.mit.edu	37	2	206614470	206614470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206614470C>T	ENST00000360409.3	+	11	2599	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	NRP2_ENST00000357785.5_Missense_Mutation_p.T603M|NRP2_ENST00000272849.3_Missense_Mutation_p.T603M|NRP2_ENST00000357118.4_Missense_Mutation_p.T603M|NRP2_ENST00000540841.1_Missense_Mutation_p.T603M|NRP2_ENST00000412873.2_Missense_Mutation_p.T603M|NRP2_ENST00000540178.1_Missense_Mutation_p.T603M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	603					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T603M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACGGTAGAGACGCTGGGACCC	0.552000													18	21					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2910319	2910319	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2910319T>C	ENST00000001008.4	+	9	1256	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	357	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GAAGGGCCTCTTCCGCCGGGG	0.567000													8	64					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242075446	242075446	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242075446A>C	ENST00000403638.3	-	8	1237	c.1146T>G	c.(1144-1146)acT>acG	p.T382T	PASK_ENST00000405260.1_Silent_p.T382T|PASK_ENST00000539818.1_Silent_p.T166T|PASK_ENST00000544142.1_Silent_p.T196T|PASK_ENST00000358649.4_Silent_p.T382T|PASK_ENST00000234040.4_Silent_p.T382T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	382	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAATCAGGAAAGTGATATTCT	0.532000													48	66					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610042	42610042	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610042T>G	ENST00000359486.3	-	1	1406	c.1270A>C	c.(1270-1272)Atg>Ctg	p.M424L	TCF20_ENST00000335626.4_Missense_Mutation_p.M424L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGGCATCATTGATGGGGTT	0.493000													10	79					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350483	50350483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50350483C>A	ENST00000376020.2	-	6	3684	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1104M|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1220M	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1220	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CAAGTGACCCCTTATTGGAGG	0.552000													17	32					2.35188e-11	2.93101e-11	1	1	0
ABCD1	215	broad.mit.edu	37	X	153005567	153005567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005567C>T	ENST00000218104.3	+	6	1909	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	504	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCATCTGCTCATCACAGG	0.652000													38	48					0	0	1	0	0
MIR205HG	0	broad.mit.edu	37	1	209605507	209605507	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209605507C>A	ENST00000384891.1	+	0	30					NR_029622.1																						ATGTGCTTCTCTTGTCCTTCA	0.527000													4	53					0.00909568	0.00947522	1	1	0
ARAP2	116984	broad.mit.edu	37	4	36093627	36093627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36093627C>A	ENST00000303965.4	-	28	4790	c.4301G>T	c.(4300-4302)gGa>gTa	p.G1434V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1434	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGATGCTTCCCAGTGTACT	0.328000													6	142					0.00621372	0.00652201	1	1	0
CCT5	22948	broad.mit.edu	37	5	10254886	10254886	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254886G>A	ENST00000280326.4	+	3	687	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CCT5_ENST00000515676.1_Silent_p.K51K|CCT5_ENST00000503026.1_Silent_p.K68K|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	89					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGATTGCCAAGCTGATGGTGG	0.428000													40	59					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123325125	123325125	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123325125G>T	ENST00000358487.5	-	3	475	c.203C>A	c.(202-204)gCc>gAc	p.A68D	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.A68D|FGFR2_ENST00000346997.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369061.4_Missense_Mutation_p.A68D|FGFR2_ENST00000457416.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.A68D|FGFR2_ENST00000359354.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369056.1_Missense_Mutation_p.A68D|FGFR2_ENST00000356226.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	68	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACTGATCACGGCGGCATCTTT	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				4	86					0.014758	0.0152625	1	1	0
CXADRP3	0	broad.mit.edu	37	18	14478148	14478148	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14478148G>T	ENST00000581457.1	-	0	1760					NR_024076.1																						GGAAAGCACAGATGAGACGTA	0.408000													14	16					1.5739e-10	1.9432e-10	1	1	0
OTUD5	55593	broad.mit.edu	37	X	48780953	48780953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48780953C>A	ENST00000156084.4	-	8	1611	c.1551G>T	c.(1549-1551)ttG>ttT	p.L517F	OTUD5_ENST00000428668.2_Missense_Mutation_p.L295F|OTUD5_ENST00000376488.3_Missense_Mutation_p.L512F|OTUD5_ENST00000396743.3_Missense_Mutation_p.L512F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	517					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCCGGCACTCCAAAGCAGGGT	0.602000													4	11					0.00909568	0.00947522	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795318	109795318	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795318G>A	ENST00000271332.3	+	1	2678	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	873	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGGCATCGTGCGAACGCT	0.562000													48	37					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256633	7256633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7256633C>T	ENST00000333751.3	+	1	1426	c.372C>T	c.(370-372)gcC>gcT	p.A124A	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	124					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCTTCCGAGCCAACCTTTTCT	0.602000													38	41					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105914978	105914978	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105914978C>A	ENST00000393359.2	-	3	1299	c.873G>T	c.(871-873)caG>caT	p.Q291H	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q291H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	291	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTTCAAAGTCCTGTAGGATAT	0.423000													4	88					0.000602214	0.000649039	1	1	0
ST18	9705	broad.mit.edu	37	8	53076618	53076618	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53076618T>G	ENST00000276480.7	-	13	2011	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGCCAATTTTTCAGCTGC	0.418000													33	58					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691284	7691284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7691284A>G	ENST00000572933.1	+	43	8170	c.6710A>G	c.(6709-6711)tAt>tGt	p.Y2237C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2237C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2237	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGCCCTATGTTCAGTCA	0.567000													3	41					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26043137	26043137	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26043137C>T	ENST00000381655.2	+	2	241	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTCTTTGGGCTATAAGAAGG	0.602000													23	24					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12359362	12359362	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12359362T>C	ENST00000358136.3	+	25	6267	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	VPS13D_ENST00000356315.4_Missense_Mutation_p.V2046A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2046					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTGATTGTAGCAAATTTG	0.433000													36	48					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158971709	158971709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158971709G>T	ENST00000605860.1	+	6	494	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	UPP2_ENST00000005756.4_Missense_Mutation_p.D93Y|UPP2_ENST00000409859.4_Missense_Mutation_p.D150Y|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	93					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGACATAAAAGACATCTGTGC	0.473000													31	34					1.08312e-15	1.39118e-15	1	1	0
ATP6V0C	527	broad.mit.edu	37	16	2569642	2569642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2569642G>A	ENST00000330398.4	+	3	598	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A79T|ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A79T|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	122					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGGGGCACCGCCCAGCAGCC	0.672000													16	23					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23381585	23381585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23381585G>T	ENST00000400181.4	+	6	918	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	KDM1A_ENST00000542151.1_Missense_Mutation_p.V272F|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.V252F	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	252	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCCACCGAGTTCACAGTTA	0.378000													73	124					9.0989e-53	1.2309e-52	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52981602	52981602	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52981602T>G	ENST00000371544.3	-	3	1105	c.843A>C	c.(841-843)gaA>gaC	p.E281D	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	281					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAGCGTTCTTCTGCTTGTT	0.378000													24	57					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44674605	44674605	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44674605C>T	ENST00000454036.1	+	13	1803	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S553F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	576					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCATTGCATCCCTCGACGAG	0.592000													35	76					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703428	33703428	+	Silent	SNP	G	G	A	rs35350154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33703428G>A	ENST00000336934.5	-	5	1502	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	STARD13_ENST00000399365.3_Silent_p.V344V|STARD13_ENST00000255486.4_Silent_p.V454V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGCCAGGGACATTGTCAT	0.562000													20	41					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	14027793	14027793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14027793C>T	ENST00000343495.5	-	4	789	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ETV1_ENST00000405192.2_Silent_p.Q17Q|ETV1_ENST00000430479.1_Silent_p.Q17Q|ETV1_ENST00000405358.4_Silent_p.Q31Q|ETV1_ENST00000242066.5_Silent_p.Q17Q|ETV1_ENST00000405218.2_Silent_p.Q17Q|ETV1_ENST00000403685.1_Silent_p.Q17Q			P50549	ETV1_HUMAN	ets variant 1	17					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCCACGCTGACTCTACA	0.418000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								32	43					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7411575	7411575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7411575G>A	ENST00000379834.2	+	14	1787	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	427	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTTAAGCGAGCATATATT	0.383000													28	45					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904424	74904424	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74904424A>G	ENST00000289575.5	+	9	1632	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I297V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I269V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I391V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I186V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I186V|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.I158V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	413					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAACCTGCTCATCGGCTGCCT	0.627000													9	37					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56846620	56846620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56846620C>T	ENST00000370748.3	+	2	447	c.12C>T	c.(10-12)atC>atT	p.I4I	BEND6_ENST00000370745.1_Silent_p.I4I|BEND6_ENST00000370746.3_Silent_p.I4I|BEND6_ENST00000370750.2_Silent_p.I4I			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGAAGATCGTGCAGACAG	0.368000													5	90					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134679121	134679121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134679121G>A	ENST00000511689.1	-	8	1375	c.782C>T	c.(781-783)gCt>gTt	p.A261V	CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000423969.2_Missense_Mutation_p.A89V|H2AFY_ENST00000312469.4_Missense_Mutation_p.A258V|CTC-203F4.1_ENST00000432382.3_Missense_Mutation_p.A135T|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000510038.1_Missense_Mutation_p.A261V|H2AFY_ENST00000304332.4_Missense_Mutation_p.A260V	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	261	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTGACAGCAGCTAGTGG	0.517000													41	42					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56715903	56715903	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56715903T>C	ENST00000425394.2	-	20	3135	c.2759A>G	c.(2758-2760)tAt>tGt	p.Y920C	PAN2_ENST00000548043.1_Missense_Mutation_p.Y920C|PAN2_ENST00000257931.5_Missense_Mutation_p.Y919C|PAN2_ENST00000440411.3_Missense_Mutation_p.Y916C	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	920					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTGACATAATAAAGGATTGC	0.398000													56	84					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20950206	20950206	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20950206C>T	ENST00000383233.3	-	9	556	c.504G>A	c.(502-504)caG>caA	p.Q168Q	TMEM241_ENST00000542162.1_Intron|TMEM241_ENST00000450466.2_Silent_p.Q47Q	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	168						integral to membrane											TCTGGGACTTCTGTAGAATTT	0.428000													10	21					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35327937	35327937	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35327937A>C	ENST00000374748.1	-	10	1101	c.788T>G	c.(787-789)aTt>aGt	p.I263S	CUL2_ENST00000374749.3_Missense_Mutation_p.I263S|CUL2_ENST00000602371.1_Missense_Mutation_p.I206S|CUL2_ENST00000537177.1_Missense_Mutation_p.I282S|CUL2_ENST00000374746.1_Missense_Mutation_p.I263S|CUL2_ENST00000374742.1_Missense_Mutation_p.I263S|CUL2_ENST00000374751.3_Missense_Mutation_p.I263S			Q13617	CUL2_HUMAN	cullin 2	263					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACATTCATGAATCACCTTAGT	0.318000													12	27					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322034	57322034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57322034C>T	ENST00000287156.4	-	3	381	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	62					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537000													9	174					0	0	1	0	0
TPD52L1	0	broad.mit.edu	37	6	125574876	125574876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125574876C>A	ENST00000534000.1	+	5	696	c.400C>A	c.(400-402)Cat>Aat	p.H134N	TPD52L1_ENST00000532429.1_Missense_Mutation_p.H105N|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000368402.5_Missense_Mutation_p.H134N|TPD52L1_ENST00000304877.13_Missense_Mutation_p.H139N|TPD52L1_ENST00000528193.1_Missense_Mutation_p.H134N|TPD52L1_ENST00000392482.2_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	134					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTCCATTCGCCATTCCATAAG	0.299000													23	45					0.000586117	0.000636007	1	1	0
RMND5B	64777	broad.mit.edu	37	5	177574751	177574751	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177574751A>G	ENST00000515098.1	+	11	1336	c.985A>G	c.(985-987)Aag>Gag	p.K329E	RMND5B_ENST00000313386.4_Missense_Mutation_p.K329E|RMND5B_ENST00000542098.1_Missense_Mutation_p.K316E			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	329										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAGGCATGAAGTGCTGGTA	0.572000													5	106					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405420	2405420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405420G>A	ENST00000332578.3	+	6	617	c.617G>A	c.(616-618)gGc>gAc	p.G206D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	206	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGTGGGCGGCATGGAAGCA	0.642000													18	44					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219509500	219509500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219509500T>C	ENST00000411696.2	-	7	2518	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	ZNF142_ENST00000449707.1_Missense_Mutation_p.Y580C			P52746	ZN142_HUMAN	zinc finger protein 142	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGTGCGGTAGTCACAGAG	0.577000													18	44					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091681	143091681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143091681C>T	ENST00000367603.2	-	5	4937	c.4195G>A	c.(4195-4197)Gcg>Acg	p.A1399T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1399T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1399T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCAAGCCCGCATGCTGCCCC	0.527000													14	28					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313646	17313646	+	Missense_Mutation	SNP	G	G	A	rs146559160		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17313646G>A	ENST00000452699.1	-	26	3152	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P949L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P993L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCGCCCCCGGTGGCCGCAC	0.692000													11	13					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72356130	72356130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72356130C>T	ENST00000375366.3	-	2	466	c.340G>A	c.(340-342)Gct>Act	p.A114T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	114	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						TCGAAGACAGCGGCGCAGTCC	0.637000													24	29					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154024015G>A	ENST00000496811.1	-	6	963	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000308361.6_Missense_Mutation_p.R295C|DHX36_ENST00000544526.1_Missense_Mutation_p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348000													25	34					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123978366	123978366	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978366C>A	ENST00000274008.3	+	13	2205	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	712					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCACCAGACCTTCCGAAAAG	0.388000													4	65					0.00909568	0.00947522	1	1	0
IQUB	154865	broad.mit.edu	37	7	123143079	123143079	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123143079T>C	ENST00000466202.1	-	5	1362	c.786A>G	c.(784-786)ggA>ggG	p.G262G	IQUB_ENST00000324698.6_Silent_p.G262G|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Silent_p.G262G			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	262										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATACTCTACTCCTGTTACTT	0.383000													8	167					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50125503	50125503	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50125503C>A	ENST00000376025.2	-	0	2707							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGTATTGCCCTGGGTGTTC	0.408000													6	50					0.00116845	0.00124821	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1271361	1271361	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271361C>A	ENST00000447027.1	+	31	13318	c.13260C>A	c.(13258-13260)acC>acA	p.T4420T	MUC5B_ENST00000529681.1_Silent_p.T4417T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4417	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACCACCTGGATCC	0.657000													8	133					0.00185496	0.00197886	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45518355	45518355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45518355G>A	ENST00000291574.4	+	21	3461	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1096					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTTGGAGGTGGATAAAGATGA	0.512000													47	73					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828745	59828745	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59828745G>T	ENST00000278865.3	+	2	185	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.D38Y|MS4A3_ENST00000534744.1_Missense_Mutation_p.D38Y	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	38				D -> N (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGCCCATAGATGGATCACC	0.453000													36	59					1.47244e-24	1.95393e-24	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004875	42004875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004875C>T	ENST00000395925.3	-	15	3880	c.3796G>A	c.(3796-3798)Ggt>Agt	p.G1266S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1266					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGAGTGCACCAGGGGCCACT	0.627000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	87					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135524755	135524755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135524755C>T	ENST00000520727.1	-	15	3587	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V	ZFAT_ENST00000377838.3_Silent_p.V1108V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Silent_p.V1096V|ZFAT_ENST00000523399.1_Silent_p.V1046V|ZFAT_ENST00000429442.2_Silent_p.V1096V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGCGCGGCCACCGCTGCCT	0.527000													55	98					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964524	20964524	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20964524G>T	ENST00000321556.4	+	2	671	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	193	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGCTTCCAGGGAGAGGCCC	0.602000													25	25					4.43304e-23	5.86336e-23	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238289974	238289974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238289974C>T	ENST00000295550.4	-	5	1933	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	COL6A3_ENST00000347401.3_Missense_Mutation_p.R293K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R288K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R494K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R288K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R87K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R288K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R87K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	494	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATTCAGGCCTCACAGTGTC	0.507000													55	92					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138187662	138187662	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138187662G>T	ENST00000389567.4	+	14	1559	c.1371_splice	c.e14-1	p.R458_splice		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	458	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCTGCAGAGAAACCCTTTT	0.468000													118	171					1.1727e-76	1.58806e-76	1	1	0
ATXN2L	11273	broad.mit.edu	37	16	28844586	28844586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28844586G>A	ENST00000336783.4	+	14	2033	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E	ATXN2L_ENST00000325215.6_Silent_p.E622E|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.E628E|ATXN2L_ENST00000340394.8_Silent_p.E622E|ATXN2L_ENST00000570200.1_Silent_p.E622E|ATXN2L_ENST00000382686.4_Silent_p.E622E|ATXN2L_ENST00000395547.2_Silent_p.E622E|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	622						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGGGCCAGAGCAGCCCCCAC	0.617000													23	59					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28195029	28195029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28195029G>A	ENST00000527436.1	+	2	268	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.R56Q					zinc finger and SCAN domain containing 9																		AGGCACTTTCGACAGCTGTGC	0.507000													19	31					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954008	133954008	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133954008C>T	ENST00000298622.4	+	9	1536	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTGGAATCCGACGGCTCCT	0.587000													12	16					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118630663	118630663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118630663C>T	ENST00000264018.4	-	8	1137	c.832G>A	c.(832-834)Gct>Act	p.A278T	DDX6_ENST00000534980.1_Missense_Mutation_p.A278T|DDX6_ENST00000526070.2_Missense_Mutation_p.A278T	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	278	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAAAGTAGCGGAATATAGT	0.383000			T	IGH@	B-NHL								18	24					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77661658	77661658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77661658C>A	ENST00000407578.2	-	62	11102	c.10836G>T	c.(10834-10836)gaG>gaT	p.E3612D	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3574D	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTCATCCTCTTCTTCCT	0.363000													14	21					0.000219431	0.000240782	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44920633	44920633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44920633A>G	ENST00000377967.4	+	14	1435	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	KDM6A_ENST00000543216.1_Missense_Mutation_p.H420R|KDM6A_ENST00000382899.4_Missense_Mutation_p.H472R|KDM6A_ENST00000536777.1_Missense_Mutation_p.H420R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	465					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAAGCTCATTCATGGTGT	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								4	33					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21644539	21644539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21644539G>A	ENST00000444129.2	-	3	596	c.128C>T	c.(127-129)aCa>aTa	p.T43I	RECQL_ENST00000421138.2_Missense_Mutation_p.T43I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	43					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATTTTCTTTGTCAGGACTTT	0.368000								Other identified genes with known or suspected DNA repair function					5	40					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947077	101947077	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:101947077G>T	ENST00000394854.3	-	14	2194	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	PPP3CA_ENST00000394853.4_Missense_Mutation_p.T494N|PPP3CA_ENST00000323055.6_Missense_Mutation_p.T452N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.T406N|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T272N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T437N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	504					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGTCTCTGAGGTGAGAGCCTT	0.448000													10	130					1.58986e-06	1.84011e-06	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109183481	109183481	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109183481C>T	ENST00000261483.4	+	19	4018	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	989					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAAGAAGTGCTGTTAATACG	0.323000													12	22					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152782732	152782732	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152782732C>A	ENST00000367255.5	-	21	2995	c.2394_splice	c.e21+1	p.K798_splice	SYNE1_ENST00000367253.4_Splice_Site_p.K798_splice|SYNE1_ENST00000341594.5_Splice_Site_p.K805_splice|SYNE1_ENST00000265368.4_Splice_Site_p.K798_splice|SYNE1_ENST00000413186.2_Splice_Site_p.K798_splice|SYNE1_ENST00000448038.1_Splice_Site_p.K805_splice|SYNE1_ENST00000367248.3_Splice_Site_p.K788_splice|SYNE1_ENST00000423061.1_Splice_Site_p.K805_splice|SYNE1_ENST00000495090.2_Splice_Site_p.K365_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	798					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCGCACCTTGGTTAGCT	0.433000										HNSCC(10;0.0054)			12	96					0.00010058	0.000111121	1	1	0
TF	7018	broad.mit.edu	37	3	133486900	133486900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133486900C>A	ENST00000402696.3	+	13	1999	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	TF_ENST00000264998.3_Missense_Mutation_p.P378H	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	505	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTTGTGCCCCTGGGTCTAAG	0.463000													6	108					3.59834e-05	4.01776e-05	1	1	0
PLBD1	79887	broad.mit.edu	37	12	14706205	14706205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14706205G>A	ENST00000240617.5	-	2	909	c.257C>T	c.(256-258)gCt>gTt	p.A86V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	86					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCATAGCCAGCTCTGATCTC	0.478000													8	34					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884480	52884480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52884480G>T	ENST00000330722.6	-	5	1018	c.950C>A	c.(949-951)tCt>tAt	p.S317Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	317	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCACCACAGATGTGTCTGA	0.512000													6	106					8.12818e-05	8.99451e-05	1	1	0
DNAL1	83544	broad.mit.edu	37	14	74125656	74125656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74125656G>A	ENST00000553645.1	+	3	190	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000540526.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000554871.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000554339.1_Intron	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CTTGCTAATTGCGAGTAAGTT	0.398000													92	183					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	rs144584611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567000													7	143					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58609021	58609021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58609021G>T	ENST00000317147.5	-	15	2049	c.1717C>A	c.(1717-1719)Ctg>Atg	p.L573M	CNOT1_ENST00000569240.1_Missense_Mutation_p.L573M|CNOT1_ENST00000441024.2_Missense_Mutation_p.L573M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	573					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCATTTAGCAGCATTGACAAG	0.393000													7	93					0.000274275	0.000298791	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238253054	238253054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238253054G>A	ENST00000295550.4	-	36	8059	c.7607C>T	c.(7606-7608)gCg>gTg	p.A2536V	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2335V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2330V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2336V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2330V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1929V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2536	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGATCCCCGCATCTGAGAG	0.537000													17	182					0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37854804	37854804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37854804G>T	ENST00000242323.7	+	4	953	c.879G>T	c.(877-879)aaG>aaT	p.K293N	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.K293N			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	293						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTCCACATAAGAAATTCTTTC	0.343000													13	121					2.61681e-11	3.25769e-11	1	1	0
ARHGAP18	93663	broad.mit.edu	37	6	129959757	129959757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129959757C>T	ENST00000368149.2	-	3	422	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTAAGCCACTCTTCTTCCAAT	0.388000													7	27					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77266736	77266736	+	Nonsense_Mutation	SNP	C	C	T	rs72554640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77266736C>T	ENST00000341514.6	+	8	2088	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Nonsense_Mutation_p.R645*	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	645					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGATCATAAACGAGAAATAAG	0.313000													26	55					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26892165	26892165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26892165A>G	ENST00000407690.1	-	12	2006	c.1723T>C	c.(1723-1725)Tcc>Ccc	p.S575P	TFIP11_ENST00000407148.1_Missense_Mutation_p.S575P|TFIP11_ENST00000405938.1_Missense_Mutation_p.S575P|TFIP11_ENST00000407431.1_Missense_Mutation_p.S575P	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	575					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGGCGCTGGACAGCTTACTA	0.592000													23	43					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29831064	29831064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29831064C>T	ENST00000320330.6	+	3	1316	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	AC009133.20_ENST00000569039.1_RNA|CTD-2574D22.6_ENST00000562285.1_Silent_p.S81S|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CCCTCGGCAGCGGAAATACTG	0.642000													12	19					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119600595	119600595	+	Silent	SNP	G	G	A	rs139806570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:119600595G>A	ENST00000295206.6	-	2	1608	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	366					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCAGGCCGTTCTTGATGC	0.617000													19	17					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581814	135581814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135581814G>A	ENST00000535601.1	+	3	666	c.244G>A	c.(244-246)Gca>Aca	p.A82T	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A82T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448000													48	93					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18622660	18622660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18622660A>G	ENST00000399799.1	-	7	1626	c.686T>C	c.(685-687)gTa>gCa	p.V229A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	229	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACATCGTACCATGCCTTC	0.373000													4	56					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417389	70417389	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70417389C>T	ENST00000327305.6	-	9	2106	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	NETO1_ENST00000583169.1_Silent_p.S483S|NETO1_ENST00000299430.2_Silent_p.S482S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	483					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCATCTTGCGAGTAGCTGT	0.502000													20	25					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880811	152880811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152880811C>T	ENST00000323534.2	+	1	783	c.329C>T	c.(328-330)cCc>cTc	p.P110L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	110					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGCGCGTGCCCATGATCCTG	0.632000													18	32					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123345497	123345497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123345497G>A	ENST00000253083.4	+	29	2926	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	934	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACCTGAGCCGCCTGCAGGAA	0.637000											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569978	22569978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22569978G>A	ENST00000510882.2	+	1	184	c.174G>A	c.(172-174)ccG>ccA	p.P58P	HDGFL1_ENST00000230012.3_Silent_p.P58P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	58	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCTGTTCCCGTACAAGGAGT	0.622000													12	8					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741114	139741114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741114G>A	ENST00000436881.1	+	1	2248	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	750										endometrium(2)|large_intestine(1)|lung(6)	9						GCGCGGCCGCGGCGTGCTCTT	0.687000													6	8					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118392771	118392771	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118392771C>T	ENST00000534358.1	+	36	11826	c.11803C>T	c.(11803-11805)Cgt>Tgt	p.R3935C	RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.R3932C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3894C|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTTTGCCATGCGTAAGATCTA	0.493000													33	45					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30915926	30915926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30915926G>A	ENST00000597505.1	-	33	4761	c.4762C>T	c.(4762-4764)Cga>Tga	p.R1588*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.R326*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCGCTACTCGCCGCCCTGAG	0.478000													8	50					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95157186	95157186	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95157186C>T	ENST00000371501.4	-	14	1371	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MYOF_ENST00000371489.1_Missense_Mutation_p.A417T|MYOF_ENST00000359263.4_Missense_Mutation_p.A417T|MYOF_ENST00000358334.5_Missense_Mutation_p.A417T|MYOF_ENST00000371502.4_Missense_Mutation_p.A417T			Q9NZM1	MYOF_HUMAN	myoferlin	417	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGGTTTGCATTTTTCTCA	0.294000													4	40					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746348	73746348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73746348G>T	ENST00000200181.3	+	28	3660	c.3474_splice	c.e28+1	p.R1158_splice	ITGB4_ENST00000450894.3_Splice_Site_p.R1158_splice|ITGB4_ENST00000449880.2_Splice_Site_p.R1158_splice|ITGB4_ENST00000339591.3_Splice_Site_p.R1158_splice|ITGB4_ENST00000579662.1_Splice_Site_p.R1158_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1158	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGGGTACAGGGTAAGGCGG	0.657000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00909568	0.00947522	1	1	0
CEACAM8	1088	broad.mit.edu	37	19	43093759	43093759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43093759G>A	ENST00000244336.5	-	3	654	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	185	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.L185I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527000													70	98					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147741308	147741308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147741308C>T	ENST00000513335.1	-	11	1347	c.1148G>A	c.(1147-1149)aGt>aAt	p.S383N	TTC29_ENST00000325106.4_Missense_Mutation_p.S357N|TTC29_ENST00000398886.4_Missense_Mutation_p.S383N			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	357							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGCATTGTACTTGCTCTCAC	0.338000													5	88					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174671315	174671315	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174671315C>A	ENST00000251507.4	+	17	2264	c.2090C>A	c.(2089-2091)tCc>tAc	p.S697Y	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S24Y|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S23Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S4Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	697	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGTATGCATCCCAGTGGTTT	0.438000													40	53					6.1244e-12	7.67368e-12	1	1	0
GPR116	221395	broad.mit.edu	37	6	46826266	46826266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826266G>A	ENST00000283296.7	-	17	3662	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	GPR116_ENST00000265417.7_Missense_Mutation_p.S1125F|GPR116_ENST00000456426.2_Missense_Mutation_p.S983F|GPR116_ENST00000362015.4_Missense_Mutation_p.S1125F|GPR116_ENST00000545669.1_Missense_Mutation_p.S554F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAGTGGACCTGCTTGT	0.537000													11	20					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65369212	65369212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65369212C>T	ENST00000330909.8	-	16	2586	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MAGI1_ENST00000483466.1_Missense_Mutation_p.E863K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E835K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E835K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	863	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCACAGGTTCCCCTGGTTCA	0.448000													33	27					0	0	1	0	0
LINC00477	0	broad.mit.edu	37	12	24736568	24736568	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:24736568A>T	ENST00000483544.1	-	0	534					NR_029451.2																						AAGGAAAAAAAGGGGGCCCAG	0.547000													34	55					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162326911	162326911	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162326911A>G	ENST00000361897.5	+	8	1326	c.924A>G	c.(922-924)caA>caG	p.Q308Q	NOS1AP_ENST00000530878.1_Silent_p.Q303Q	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	308	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCAGACACAAGTGGCTGTGG	0.632000													4	38					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178326678	178326678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178326678G>A	ENST00000264167.4	+	9	1074	c.928G>A	c.(928-930)Gta>Ata	p.V310I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	310	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358000													8	53					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141592001	141592001	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141592001A>G	ENST00000442267.2	-	7	1213	c.1139T>C	c.(1138-1140)tTc>tCc	p.F380S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	380						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAAATAGGAAGGTCATCCT	0.443000													5	138					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67047315	67047315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67047315C>T	ENST00000308595.5	+	6	737	c.447C>T	c.(445-447)taC>taT	p.Y149Y	ADRBK1_ENST00000526285.1_Silent_p.Y149Y	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	149	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTAGCCATACATCGAAGAGA	0.592000													21	31					0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30097613	30097613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30097613C>T	ENST00000395224.2	-	9	1303	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	TBX6_ENST00000279386.2_Missense_Mutation_p.G415D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	415					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGGAAGGGGCCCCCTTGGAG	0.642000													19	19					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324099	136324099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136324099C>T	ENST00000371929.3	+	29	4525	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1274W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1305W|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R157W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1361	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTCAGATCCGGGACACCCA	0.572000													9	14					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233199425	233199425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233199425C>T	ENST00000325385.7	+	19	2650	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.Q792*|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	792							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTACGGCGTGCAGAAGCGCAT	0.657000													5	13					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21210953	21210953	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21210953C>T	ENST00000574002.1	-	17	2347	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	ZP2_ENST00000574091.1_Missense_Mutation_p.R613Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R622Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	622	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGGGAGAGTCGATTACAGAT	0.478000													18	20					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976519	14976519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14976519C>T	ENST00000330828.2	+	2	854	c.650C>T	c.(649-651)gCt>gTt	p.A217V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	217										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATTGTCAAGGCTATGGGACCA	0.383000													5	43					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690567	109690567	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690567A>G	ENST00000277225.5	+	3	4663	c.4374A>G	c.(4372-4374)ctA>ctG	p.L1458L	ZNF462_ENST00000441147.2_Silent_p.L303L|ZNF462_ENST00000457913.1_Silent_p.L1458L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCTGCAGCTAGCTTCAGCCA	0.522000													4	15					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388000													68	104					0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619494	57619494	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57619494C>T	ENST00000349394.5	+	2	1066	c.891C>T	c.(889-891)gaC>gaT	p.D297D		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	297	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTGCCCAGACTATAACTTCC	0.577000													14	21					0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27861864	27861864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861864G>A	ENST00000264718.3	+	9	746	c.725G>A	c.(724-726)aGc>aAc	p.S242N	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.S133N|GPN1_ENST00000515877.1_Missense_Mutation_p.S149N|GPN1_ENST00000424214.1_Missense_Mutation_p.S149N|GPN1_ENST00000503738.1_Missense_Mutation_p.S133N|GPN1_ENST00000407583.3_Missense_Mutation_p.S216N	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	228						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGTTCAATGAGCCTGGTGTTA	0.453000													27	51					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897026	104897026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897026C>T	ENST00000533400.1	-	9	1209	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	CASP1_ENST00000531166.1_Missense_Mutation_p.V76M|CASP1_ENST00000598974.1_Missense_Mutation_p.V392M|CASP1_ENST00000393136.4_Missense_Mutation_p.V371M|CASP1_ENST00000525825.1_Missense_Mutation_p.V371M|CASP1_ENST00000534497.1_Missense_Mutation_p.V251M|CASP1_ENST00000594519.1_Missense_Mutation_p.V251M|CASP1_ENST00000353247.5_Missense_Mutation_p.V76M|CASP1_ENST00000527979.1_Missense_Mutation_p.V355M|CASP1_ENST00000593315.1_Missense_Mutation_p.V371M|CASP1_ENST00000446369.1_Missense_Mutation_p.V251M|CASP1_ENST00000526568.1_Missense_Mutation_p.V299M|CASP1_ENST00000415981.2_Missense_Mutation_p.V76M|CASP1_ENST00000436863.3_Missense_Mutation_p.V392M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	392					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTCAAAGTCACTCTTTCAGTG	0.443000													36	49					0	0	1	0	0
CENPC	1060	broad.mit.edu	37	4	68379857	68379857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68379857C>T	ENST00000273853.6	-	8	1629	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K		NM_001812.2	NP_001803.2			centromere protein C																		TTCCATATTTCTGTCTGAATT	0.358000													6	12					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441427	111441427	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111441427T>C	ENST00000265162.5	+	10	1974	c.1632T>C	c.(1630-1632)taT>taC	p.Y544Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	544					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATGGGTTATCCTGTGCTTA	0.423000													10	91					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33342588	33342588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33342588C>T	ENST00000374796.2	-	9	4182	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A538T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	538	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGGGTGGTTGCTGTGGTCGAA	0.483000													3	59					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756428	56756428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56756428C>A	ENST00000326855.2	+	1	82	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGAATTCTATCTTCTGGGATT	0.403000													101	92					1.85599e-38	2.50149e-38	1	1	0
SMC5	23137	broad.mit.edu	37	9	72967143	72967143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72967143G>A	ENST00000361138.5	+	25	3260	c.3202G>A	c.(3202-3204)Gtt>Att	p.V1068I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1068					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGATGACAGTTTTGTTTGT	0.378000													41	61					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128531	56128531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56128531C>A	ENST00000303039.3	+	1	841	c.809C>A	c.(808-810)aCt>aAt	p.T270N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCACTGGATACTGATGATAAG	0.423000													64	87					8.33888e-18	1.08395e-17	1	1	0
GPNMB	10457	broad.mit.edu	37	7	23309606	23309606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23309606C>T	ENST00000258733.4	+	9	1536	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	GPNMB_ENST00000539136.1_Missense_Mutation_p.T315I|GPNMB_ENST00000381990.2_Missense_Mutation_p.T426I|GPNMB_ENST00000453162.2_Missense_Mutation_p.T368I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	426					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGGTCTGTACCATCATTTCT	0.557000													8	135					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26190160	26190160	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26190160G>A	ENST00000374296.3	-	2	837	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	57					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCGCCAGGTCTGATGCA	0.642000													17	37					0	0	1	0	0
DSCR10	0	broad.mit.edu	37	21	39580414	39580414	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39580414C>A	ENST00000432141.1	+	0	536					NR_027695.1																						CCTCCGCTTCCTGTCAGGGTG	0.582000													18	216					7.07596e-05	7.86387e-05	1	1	0
LCN8	138307	broad.mit.edu	37	9	139651520	139651520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139651520C>T	ENST00000371688.3	-	2	420	c.125G>A	c.(124-126)aGt>aAt	p.S42N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	65					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GGTCAGGTTACTCCCGCTCAA	0.612000													13	9					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011097	40011097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40011097C>T	ENST00000319121.3	-	2	1082	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	341						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGGGTGCTGGCATGTGCCAGA	0.478000													35	59					0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228534	228228534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228228534C>A	ENST00000304568.3	-	4	633	c.596G>T	c.(595-597)gGa>gTa	p.G199V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	199						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTCCAGAATTCCAACAAGCAA	0.428000													53	97					1.19403e-26	1.59107e-26	1	1	0
FANCL	55120	broad.mit.edu	37	2	58388666	58388666	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58388666G>A	ENST00000402135.3	-	12	1062	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	FANCL_ENST00000403295.3_Silent_p.C309C|FANCL_ENST00000403676.1_Silent_p.C220C|FANCL_ENST00000233741.4_Silent_p.C337C	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	337					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.C337C(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCTCATATAAGCATATTTGAT	0.333000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	78					0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48834663	48834663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48834663C>T	ENST00000425583.2	+	2	297	c.22C>T	c.(22-24)Cga>Tga	p.R8*	OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000512981.1_Intron	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	8	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GGCTGATTTTCGAGAGCCGAA	0.348000													56	91					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	901528	901528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:901528C>T	ENST00000166345.3	+	5	873	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	173					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CACCTGGAACCGGGTGGTGCT	0.433000													13	20					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4076668	4076668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4076668C>T	ENST00000341657.4	-	21	3030	c.2995G>A	c.(2995-2997)Gcc>Acc	p.A999T	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A1041T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A1000T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	999						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGGCTTCGGCGTCCACTGTG	0.597000													16	24					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228012194	228012194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228012194C>T	ENST00000396625.3	-	2	213	c.6G>A	c.(4-6)tgG>tgA	p.W2*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.W2*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	2					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTGCAGAGACCACATCGCAG	0.448000													73	133					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269155	27269155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269155C>T	ENST00000321265.5	+	5	557	c.434C>T	c.(433-435)aCt>aTt	p.T145I		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	145					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AAGCAGGATACTGAGGAAGAT	0.532000													25	39					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137627773	137627773	+	Silent	SNP	C	C	T	rs116617843	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137627773C>T	ENST00000323760.6	-	8	926	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CDC25C_ENST00000357274.3_Silent_p.S173S|CDC25C_ENST00000356505.3_Silent_p.S186S|CDC25C_ENST00000348983.3_Silent_p.S143S|CDC25C_ENST00000514555.1_Silent_p.S186S|CDC25C_ENST00000513970.1_Silent_p.S216S|CDC25C_ENST00000415130.2_Silent_p.S143S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	216					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGGCATCGACGGGGAGC	0.448000													54	90					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73627598	73627598	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73627598G>T	ENST00000317905.5	-	9	1539	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	RECQL5_ENST00000423245.2_Silent_p.P433P|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	460					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCTGGGAGGGCCCGATGC	0.687000								Other identified genes with known or suspected DNA repair function					27	42					7.92952e-12	9.92272e-12	1	1	0
HNRNPH1	3187	broad.mit.edu	37	5	179042596	179042596	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179042596T>C	ENST00000356731.5	-	12	2836	c.1300_splice	c.e12-1	p.D434_splice	HNRNPH1_ENST00000393432.4_Splice_Site_p.D434_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.D434_splice|HNRNPH1_ENST00000510411.1_Splice_Site_p.D414_splice|HNRNPH1_ENST00000511300.2_Splice_Site_p.D144_splice|HNRNPH1_ENST00000329433.6_Intron			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	434					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TAAAACTTGGTCTGCAAAAGG	0.289000													12	23					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161326568	161326568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161326568A>G	ENST00000367975.2	+	5	492	c.343A>G	c.(343-345)Aca>Gca	p.T115A	SDHC_ENST00000432287.2_Missense_Mutation_p.T81A|SDHC_ENST00000392169.2_Missense_Mutation_p.T62A|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000513009.1_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	115					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACTGATCCACACAGCTAAGTT	0.473000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				62	133					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029234	25029234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25029234C>T	ENST00000381989.3	-	22	2784	c.2679G>A	c.(2677-2679)ttG>ttA	p.L893L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	893	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTTGGCTTGCAAGAATGTCA	0.517000													21	96					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971440	118971440	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118971440G>T	ENST00000409993.2	-	5	1947	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DPAGT1_ENST00000432443.2_Silent_p.A25A|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.A132A			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	132					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGGTAGTGAGGCAGCTGTAG	0.552000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	30					5.4927e-09	6.6252e-09	1	1	0
NMRK1	54981	broad.mit.edu	37	9	77683915	77683915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77683915C>T	ENST00000376811.1	-	8	967	c.505G>A	c.(505-507)Gtt>Att	p.V169I	NMRK1_ENST00000361092.4_Missense_Mutation_p.V165I|NMRK1_ENST00000376808.4_Missense_Mutation_p.V141I			Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	165					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										CACTTACCAACTTCCCATGTG	0.428000													6	35					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932795	39932795	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39932795G>T	ENST00000342274.4	-	4	2166	c.1804C>A	c.(1804-1806)Ccg>Acg	p.P602T	BCOR_ENST00000378444.4_Missense_Mutation_p.P602T|BCOR_ENST00000397354.3_Missense_Mutation_p.P602T|BCOR_ENST00000378455.4_Missense_Mutation_p.P602T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	602					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGAGTGGCCGGGGGCTGGCCC	0.597000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	75					0.184627	0.186383	1	1	0
CCDC146	57639	broad.mit.edu	37	7	76922406	76922406	+	Silent	SNP	C	C	T	rs149134416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76922406C>T	ENST00000285871.4	+	18	2680	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	CCDC146_ENST00000431197.1_Silent_p.C565C|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	851										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTTCACTTGCAATTCCAGGA	0.433000													7	133					0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76711988	76711988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76711988C>T	ENST00000439435.1	+	2	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CCCTCCATGTCCAGAGACCTC	0.502000													42	86					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972362	35972362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35972362C>T	ENST00000325722.3	-	3	751	c.517G>A	c.(517-519)Gct>Act	p.A173T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	173						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATACAGCAGGTCTGAGT	0.498000													8	94					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269964	43269964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43269964G>A	ENST00000372585.5	+	8	1183	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G361D|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G361D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	363						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTATTACGGCCTGAGTCTG	0.567000													28	41					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160148851	160148851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160148851G>A	ENST00000357388.3	+	20	3423	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991H|SMC4_ENST00000462787.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	991					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGAACATCGCAATCTGCTT	0.338000													24	33					0	0	1	0	0
UBE2E1	7324	broad.mit.edu	37	3	23848871	23848871	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23848871C>T	ENST00000306627.3	+	2	330	c.111C>T	c.(109-111)agC>agT	p.S37S	UBE2E1_ENST00000346855.3_Silent_p.S37S	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						GTAAAGTCAGCATGAGCAAAA	0.493000													4	35					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17735657	17735657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17735657G>A	ENST00000428389.2	-	36	4441	c.4442C>T	c.(4441-4443)cCg>cTg	p.P1481L	UNC13A_ENST00000552293.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1391L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1393L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1393L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1393	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTGAGGGGCGGCAGGACGAT	0.577000													6	12					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67546270	67546270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:67546270C>A	ENST00000307227.5	-	9	1041	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	SUCLG2_ENST00000492795.1_Missense_Mutation_p.K338N|SUCLG2_ENST00000493112.1_Missense_Mutation_p.K338N	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	338					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTGAGCTTCCTTTACACCAC	0.433000													8	73					0.000157383	0.00017284	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151672950	151672950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151672950G>A	ENST00000402676.2	+	4	3664	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	AKAP12_ENST00000359755.5_Missense_Mutation_p.E1037K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1142K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1044K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1142					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGTCAAGCCGAAACCTTAGC	0.522000													8	45					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194159674	194159674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194159674T>A	ENST00000439040.1	-	17	2529	c.1738A>T	c.(1738-1740)Aca>Tca	p.T580S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T580S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	580					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGTGCTGTTTCTTCTTCA	0.383000													28	45					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523466	23523466	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23523466A>G	ENST00000296682.3	+	9	1131	c.950_splice	c.e9+1	p.R317_splice		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	317	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACTGGATGAGGTAAGGCCA	0.428000										HNSCC(3;0.000094)			9	43					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968797	87968797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87968797G>A	ENST00000369577.3	+	8	5493	c.5450G>A	c.(5449-5451)aGt>aAt	p.S1817N	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1812N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTTATAAGTGTCATGCCA	0.323000													8	13					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141357958	141357958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141357958G>T	ENST00000394520.2	+	5	706	c.397G>T	c.(397-399)Gag>Tag	p.E133*	RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E133*|RNF14_ENST00000394514.2_Nonsense_Mutation_p.E7*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E133*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	133	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTAAGGAAGAGACCCTAGC	0.453000													5	59					0.000602214	0.000649039	1	1	0
DMD	1756	broad.mit.edu	37	X	32456421	32456421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32456421C>A	ENST00000357033.4	-	29	4214	c.4008G>T	c.(4006-4008)atG>atT	p.M1336I	DMD_ENST00000378677.2_Missense_Mutation_p.M1332I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1336					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAGCTCATCCATGACTCCGC	0.378000													5	88					1.23904e-05	1.39987e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121344960	121344960	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121344960G>A	ENST00000297848.3	+	42	5041	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1591	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A1591T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507000													13	24					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954223	32954223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32954223C>T	ENST00000399302.2	+	4	1367	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	344	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCCAAAATTACGGTTTAGTAC	0.388000													34	83					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73814804	73814804	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73814804C>T	ENST00000223398.6	+	15	3312	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	CLIP2_ENST00000361545.5_Silent_p.D960D|CLIP2_ENST00000395060.1_Silent_p.D995D	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	995						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGAGGACGCCCTGCGGG	0.657000													14	24					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202						integral to membrane		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408000										HNSCC(40;0.11)			4	51					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390151	48390151	+	Missense_Mutation	SNP	C	C	T	rs149256669	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48390151C>T	ENST00000224600.4	-	1	840	c.727G>A	c.(727-729)Gcg>Acg	p.A243T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	243	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A243T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGATGTGCGCGATGTCCTCG	0.647000													14	24					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264440	37264440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37264440C>T	ENST00000315392.4	-	5	739	c.528G>A	c.(526-528)gcG>gcA	p.A176A	PLXDC1_ENST00000394316.2_Silent_p.A176A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.A136A|PLXDC1_ENST00000539608.1_Silent_p.A103A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	176					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCAGGGGCGCCACATACT	0.527000													43	76					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999172	166999172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166999172G>A	ENST00000061240.2	+	18	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	811	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTGGCCACCGAATCAAATTA	0.458000													9	21					0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950644	123950644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123950644G>A	ENST00000526639.2	+	2	1136	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R186Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R191Q	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	186	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGCGGGAGCGATCTCGATCC	0.542000													18	33					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65234399	65234399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65234399C>T	ENST00000294428.3	+	2	388	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RAVER2_ENST00000371072.4_Nonsense_Mutation_p.R104*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	104	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGAAATAAACGAACAGGTAA	0.299000													18	56					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182376437	182376437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182376437A>G	ENST00000397033.2	+	17	2287	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	619					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAACTTTGCAAGGTTTTGTG	0.299000													6	118					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957148	111957148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111957148T>C	ENST00000369732.3	-	11	2030	c.1975A>G	c.(1975-1977)Aca>Gca	p.T659A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	659					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAGGACTTGTTTGAGGGGTT	0.473000													22	48					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369036	86369036	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369036G>A	ENST00000400286.2	-	2	2206	c.1608C>T	c.(1606-1608)agC>agT	p.S536S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	536	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGTTCTTGCTTAACTTTT	0.463000													13	37					0	0	1	0	0
COG5	0	broad.mit.edu	37	7	107052970	107052970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107052970G>A	ENST00000393603.2	-	7	1010	c.739C>T	c.(739-741)Cta>Tta	p.L247L	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.L247L|COG5_ENST00000347053.3_Silent_p.L247L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	247					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCTGCTCTAGTAGGCGCTTA	0.338000													5	106					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487017	1487017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1487017G>A	ENST00000300954.5	-	8	964	c.903C>T	c.(901-903)ggC>ggT	p.G301G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	301	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCAGGCCGCCGTTGCCCG	0.706000													7	49					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258092	155258092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258092G>T	ENST00000368358.3	+	8	2171	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	721	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTGCCTCAGCGGGCAACAG	0.692000													3	18					0.000602214	0.000649039	1	1	0
USP49	25862	broad.mit.edu	37	6	41773953	41773953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773953T>C	ENST00000394253.3	-	3	1098	c.769A>G	c.(769-771)Aac>Gac	p.N257D	USP49_ENST00000373006.1_Missense_Mutation_p.N257D|USP49_ENST00000297229.2_Missense_Mutation_p.N257D|USP49_ENST00000373009.3_Missense_Mutation_p.N257D|USP49_ENST00000373010.1_Missense_Mutation_p.N257D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	257					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGCCCAGGTTGCGCAGGCCC	0.647000													13	39					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325630	74325630	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74325630T>G	ENST00000322348.4	-	1	1094	c.233A>C	c.(232-234)gAa>gCa	p.E78A		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	78					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGCTCCTGTTCATAGATACC	0.413000													54	67					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515233	55515233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55515233G>A	ENST00000500968.3	-	2	222	c.140C>T	c.(139-141)gCg>gTg	p.A47V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCGAAGACGCCTTCGTAGC	0.667000													9	13					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378152	18378152	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18378152C>T	ENST00000392413.3	-	3	413	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KIAA1683_ENST00000600359.2_Silent_p.P20P|KIAA1683_ENST00000600328.2_Silent_p.P66P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	66						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGCTGTTGCGGAAGATGCT	0.642000													34	55					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38927952	38927952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38927952G>A	ENST00000335552.4	-	1	462	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	138	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTATGACTGAGAAGTATCTGC	0.413000													9	72					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148996239	148996239	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148996239G>C	ENST00000333677.6	+	5	731	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	190	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGTCCCTGATGCCAGTGCCTA	0.517000													20	34					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924926	190924926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190924926C>T	ENST00000260950.4	-	2	741	c.609G>A	c.(607-609)tgG>tgA	p.W203*	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	203					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAATGCTCTGCCAAATACCAG	0.408000													39	92					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12358835C>T	ENST00000269143.3	-	8	1091	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547000													19	29					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886959	61886959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61886959C>A	ENST00000578681.1	+	12	1793	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	DDX42_ENST00000583590.1_Missense_Mutation_p.L398I|DDX42_ENST00000457800.2_Missense_Mutation_p.L398I|DDX42_ENST00000359353.5_Missense_Mutation_p.L279I|DDX42_ENST00000389924.2_Missense_Mutation_p.L398I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCTACCAATCTTCAAAGAGT	0.378000													7	90					0.00307968	0.00325696	1	1	0
ACAD9	28976	broad.mit.edu	37	3	128631414	128631414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128631414C>A	ENST00000308982.7	+	18	1911	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	610						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAAGCGAGCCTATATCTGTG	0.552000													27	55					1.2476e-16	1.61147e-16	1	1	0
MKL2	57496	broad.mit.edu	37	16	14307467	14307467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14307467C>T	ENST00000571589.1	+	6	514	c.342C>T	c.(340-342)caC>caT	p.H114H	MKL2_ENST00000573051.1_Silent_p.H63H|MKL2_ENST00000574045.1_Silent_p.H114H|MKL2_ENST00000572567.1_Silent_p.H103H|MKL2_ENST00000318282.5_Silent_p.H114H|MKL2_ENST00000341243.5_Silent_p.H103H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	103					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGATGCACATTTTAGAAG	0.303000													33	58					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45713694G>A	ENST00000291582.5	+	11	1428	c.1301G>A	c.(1300-1302)tGc>tAc	p.C434Y	AIRE_ENST00000355347.4_Missense_Mutation_p.C227Y|AIRE_ENST00000329347.4_Missense_Mutation_p.A200T	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	434					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				13	25					0	0	1	0	0
SEC11A	23478	broad.mit.edu	37	15	85230935	85230935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85230935G>A	ENST00000268220.7	-	3	872	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SEC11A_ENST00000558134.1_Nonsense_Mutation_p.R78*|SEC11A_ENST00000455959.3_Nonsense_Mutation_p.R52*|SEC11A_ENST00000560266.1_Nonsense_Mutation_p.R78*	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	78					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTCCCACTCGTATGGGATCT	0.388000													43	56					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291760	163291760	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291760A>T	ENST00000332142.5	-	8	2001	c.1902T>A	c.(1900-1902)tcT>tcA	p.S634S	KCNH7_ENST00000328032.4_Silent_p.S627S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	634					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGTGTTAGGAGACACATTCC	0.378000													41	45					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476230	88476230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88476230G>A	ENST00000429277.2	+	10	1538	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	LDB3_ENST00000458213.2_Missense_Mutation_p.A350T|LDB3_ENST00000263066.6_Missense_Mutation_p.A350T|LDB3_ENST00000352360.5_Missense_Mutation_p.A203T|LDB3_ENST00000361373.4_Missense_Mutation_p.A460T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	460						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						cccagcaccagcctatacccc	0.687000													9	19					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116734430	116734430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116734430T>C	ENST00000375300.1	-	15	1918	c.1913A>G	c.(1912-1914)cAc>cGc	p.H638R	SIK3_ENST00000446921.2_Missense_Mutation_p.H638R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.H580R|SIK3_ENST00000434315.2_Missense_Mutation_p.H479R|SIK3_ENST00000375288.1_Missense_Mutation_p.T12A|SIK3_ENST00000292055.4_Missense_Mutation_p.H580R			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	580	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTTTCCAGGTGAGCTTTGAA	0.577000													6	183					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359883	71359883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71359883C>T	ENST00000373677.1	+	2	2649	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	NHSL2_ENST00000535692.1_Missense_Mutation_p.R463C|NHSL2_ENST00000540800.1_Missense_Mutation_p.R829C|NHSL2_ENST00000510661.1_Missense_Mutation_p.R598C			F5H593	F5H593_HUMAN	NHS-like 2	829										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCGACCTACGTTCTGTTCG	0.522000													4	13					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408000													25	45					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187216	62187216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187216G>A	ENST00000370098.3	+	2	292	c.200G>A	c.(199-201)cGc>cAc	p.R67H	C20orf195_ENST00000370097.1_Missense_Mutation_p.R67H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	67										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CACCACGCCCGCATGCAGCTG	0.647000													14	16					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118376263	118376263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118376263C>A	ENST00000534358.1	+	27	9679	c.9656C>A	c.(9655-9657)tCt>tAt	p.S3219Y	KMT2A_ENST00000389506.5_Missense_Mutation_p.S3216Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3178Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ACTCCATCCTCTGGACTCAAG	0.498000													37	35					9.58827e-17	1.23908e-16	1	1	0
RET	5979	broad.mit.edu	37	10	43615023	43615023	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43615023C>T	ENST00000355710.3	+	14	2669	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	RET_ENST00000340058.5_Missense_Mutation_p.R813W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	813	Protein kinase.		R -> Q (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGGCTCCCTGCGGGGCTTCCT	0.701000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	14					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485284	110485284	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110485284C>T	ENST00000260283.4	-	7	915		c.e7+1		ARHGAP20_ENST00000357139.3_Splice_Site|ARHGAP20_ENST00000524756.1_Splice_Site|ARHGAP20_ENST00000527598.1_Splice_Site|ARHGAP20_ENST00000528829.1_Splice_Site|ARHGAP20_ENST00000533353.1_Splice_Site	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAAACACTTACGTAGGCACAA	0.433000													31	47					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155088	106155088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155088G>A	ENST00000513237.1	+	3	849	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	TET2_ENST00000540549.1_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000545826.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000380013.4_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGGCCCCGAAGCAAGCCT	0.413000			"""Mis N, F"""		MDS								6	17					0	0	1	0	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112899787	112899787	+	Missense_Mutation	SNP	C	C	T	rs150767444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899787C>T	ENST00000374530.3	+	8	2143	c.1963C>T	c.(1963-1965)Cgt>Tgt	p.R655C	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R655C|AKAP2_ENST00000259318.7_Missense_Mutation_p.R424C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R655C|AKAP2_ENST00000434623.2_Missense_Mutation_p.R513C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R513C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R655C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		424							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCTTCTAAACGTGGGCCCTT	0.577000													41	41					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498536	43498536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43498536G>A	ENST00000300215.3	-	10	2157	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.A459V|EPB42_ENST00000441366.2_Missense_Mutation_p.A537V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	537					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCCAGGTTGGCACTGAGCGT	0.622000													13	25					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798768	241798768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241798768C>T	ENST00000366553.1	-	1	464	c.301G>A	c.(301-303)Gct>Act	p.A101T	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	101					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAGCAAAAAGCTTCTGTGTGT	0.443000													44	286					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268692	57268692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57268692C>T	ENST00000278426.3	-	3	620	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A89T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	89					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGTGGTGGCGCTGAGCACG	0.652000													19	40					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7536134	7536134	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536134T>A	ENST00000380450.4	+	7	948	c.917T>A	c.(916-918)cTt>cAt	p.L306H	SHBG_ENST00000575903.1_Missense_Mutation_p.L288H|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.L194H|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.L248H|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	306	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGACTCCCTCTTCAGCTGAAG	0.597000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	47					0	0	1	0	0
GNPTG	84572	broad.mit.edu	37	16	1412896	1412896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1412896C>T	ENST00000204679.4	+	10	855	c.812C>T	c.(811-813)aCg>aTg	p.T271M		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ATCCCCTACACGAGGCCCACA	0.552000													32	43					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43913094G>A	ENST00000291536.3	-	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507000													95	140					0	0	1	0	0
CTD-2139B15.2	0	broad.mit.edu	37	5	17354443	17354443	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:17354443C>T	ENST00000511821.1	+	0	302				FTH1P10_ENST00000401830.3_RNA																							ACGCAGGAGGCGTAGAGCTCC	0.537000													5	28					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61109300	61109300	+	Missense_Mutation	SNP	C	C	A	rs142253953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61109300C>A	ENST00000394900.3	+	7	800	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	191	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATAGGTACCCTGGGGGTGAG	0.592000													9	150					0.00621372	0.00652201	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4510834	4510834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510834G>A	ENST00000301286.3	-	3	3095	c.3096C>T	c.(3094-3096)caC>caT	p.H1032H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1032						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGGCCAGTGTGGGTGGCCC	0.632000													11	68					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74696744	74696744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696744T>C	ENST00000355994.2	-	8	1120	c.857A>G	c.(856-858)aAa>aGa	p.K286R	MBP_ENST00000578193.1_Missense_Mutation_p.K153R|MBP_ENST00000580402.1_Missense_Mutation_p.K286R|MBP_ENST00000397865.5_Missense_Mutation_p.K142R|MBP_ENST00000526111.1_Missense_Mutation_p.K131R|MBP_ENST00000382582.3_Missense_Mutation_p.K179R|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.K218R|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.K163R|MBP_ENST00000359645.3_Missense_Mutation_p.K168R|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.K153R|MBP_ENST00000528160.1_Missense_Mutation_p.K37E	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	286					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTTAAAAATTTTGGAAAGCGT	0.557000													4	49					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11775175	11775175	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11775175G>T	ENST00000294485.5	+	6	982		c.e6-1			NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		TGTGTTGGCAGGGACTTGCTG	0.607000													4	35					1.024e-07	1.214e-07	1	1	0
BGN	633	broad.mit.edu	37	X	152770099	152770099	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152770099C>A	ENST00000331595.4	+	2	196	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	4						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTGGCCCCTGTGGCGCCT	0.632000													4	31					0.00024832	0.0002712	1	1	0
MBP	4155	broad.mit.edu	37	18	74696810	74696810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696810C>T	ENST00000355994.2	-	8	1054	c.791G>A	c.(790-792)aGa>aAa	p.R264K	MBP_ENST00000578193.1_Missense_Mutation_p.R131K|MBP_ENST00000580402.1_Missense_Mutation_p.R264K|MBP_ENST00000397865.5_Missense_Mutation_p.R120K|MBP_ENST00000526111.1_Missense_Mutation_p.R109K|MBP_ENST00000382582.3_Missense_Mutation_p.R157K|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.R196K|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.R141K|MBP_ENST00000359645.3_Missense_Mutation_p.R146K|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.R131K|MBP_ENST00000528160.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	264					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GTCGGACGCTCTGCCTCCGTA	0.582000													4	67					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185251378	185251378	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185251378T>C	ENST00000296252.4	-	3	648	c.507A>G	c.(505-507)ggA>ggG	p.G169G	LIPH_ENST00000424591.2_Silent_p.G169G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	169					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCCCAGCCATCCATCGTACA	0.493000													13	71					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537902	38537902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38537902G>A	ENST00000287675.5	+	1	140	c.44G>A	c.(43-45)cGt>cAt	p.R15H	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.R15H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	15						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGTTCCCGTCGTTTTCTGAGC	0.682000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	16					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835130	24835130	+	Silent	SNP	C	C	T	rs138680991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24835130C>T	ENST00000376454.3	+	21	5739	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.S1309S|KIAA1217_ENST00000376452.3_Silent_p.S1334S|KIAA1217_ENST00000376462.1_Silent_p.S1224S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ctgcctcctccgtctcACTGA	0.542000													25	18					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906428	144906428	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906428A>T	ENST00000529945.1	-	14	3357	c.2918T>A	c.(2917-2919)cTc>cAc	p.L973H	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L947H|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L810H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L876H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L973H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L597H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L947H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L810H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	810					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCTTTATGAGATCTTCTTT	0.443000			T	PDGFRB	MPD								25	147					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767169	23767169	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23767169C>T	ENST00000300113.2	+	3	565	c.140_splice	c.e3-1	p.R48_splice		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTTTGCAGCCGCATGGATCT	0.567000													20	33					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780225	169780225	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169780225C>A	ENST00000263817.6	-	28	3997	c.3873G>T	c.(3871-3873)caG>caT	p.Q1291H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1291	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACCACCCCCTGTGCCATGA	0.522000													5	58					0.014758	0.0152625	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58190027	58190027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58190027C>T	ENST00000302581.2	-	1	759	c.708G>A	c.(706-708)ttG>ttA	p.L236L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACAGGTGGACAATGCTTTTT	0.428000													6	66					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683750	50683750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50683750C>A	ENST00000442544.2	+	8	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_ENST00000412726.1_Missense_Mutation_p.P277H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.P84H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542000													15	148					1.15088e-07	1.35723e-07	1	1	0
ENTHD1	150350	broad.mit.edu	37	22	40161424	40161424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40161424C>A	ENST00000325157.6	-	6	1273	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	341										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGCTGATAAACTCCTCTTTAC	0.398000													9	100					0.000442599	0.00048047	1	1	0
GPR15	2838	broad.mit.edu	37	3	98251792	98251792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98251792C>T	ENST00000284311.3	+	1	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	305						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTATATCTTCGACAGCTACA	0.473000													25	46					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65732040	65732040	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65732040T>A	ENST00000253247.4	+	9	1070	c.955T>A	c.(955-957)Ttt>Att	p.F319I	NOL11_ENST00000535137.1_Missense_Mutation_p.F137I	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	319						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAACATTTGTTTATGCTACA	0.348000													24	29					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49142710	49142710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49142710G>A	ENST00000084798.4	-	7	1326	c.647C>T	c.(646-648)gCc>gTc	p.A216V	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	216						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AAGAAAGTAGGCATCATCTGC	0.572000													13	35					0	0	1	0	0
PYCRL	65263	broad.mit.edu	37	8	144689168	144689168	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144689168G>T	ENST00000220966.6	-	3	356	c.327C>A	c.(325-327)atC>atA	p.I109I	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	97					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGACACCAAGATGTGTTCAG	0.612000													8	45					0.000274275	0.000298791	1	1	0
FUNDC2P2	0	broad.mit.edu	37	2	84518368	84518368	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84518368C>T	ENST00000331369.5	+	0	562																											GGGGATTTTTCGGAGGCTTTC	0.458000													53	78					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277058	95277058	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277058T>C	ENST00000344604.5	-	4	1058	c.909A>G	c.(907-909)cgA>cgG	p.R303R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R281R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAAGCGGGGATCGAGAGGGCA	0.607000													4	41					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162399	96162399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96162399G>A	ENST00000225235.4	+	1	139	c.29G>A	c.(28-30)tGc>tAc	p.C10Y		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	10						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCGGAGCCTGCTCGGGAAGA	0.692000													5	13					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60567302	60567302	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60567302C>T	ENST00000308287.1	+	8	820	c.722_splice	c.e8-1	p.L242_splice		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	242						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ttcatgcaggctcagagaagt	0.463000													4	4					0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	rs138876819	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52726773G>A	ENST00000452082.2	-	4	1657	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	NEK3_ENST00000378101.2_Missense_Mutation_p.R122C|NEK3_ENST00000400357.2_Missense_Mutation_p.R122C|NEK3_ENST00000339406.3_Missense_Mutation_p.R122C			P51956	NEK3_HUMAN	NIMA-related kinase 3	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353000													17	44					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19029660	19029660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19029660C>T	ENST00000420770.2	+	7	1108	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PAX7_ENST00000375375.3_Missense_Mutation_p.A342V|PAX7_ENST00000400661.3_Missense_Mutation_p.A340V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	342	Poly-Ala.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGCTGCAGCGGCTGCAGCC	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma								9	13					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43010902	43010902	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43010902G>A	ENST00000535468.1	-	18	3710	c.3624C>T	c.(3622-3624)agC>agT	p.S1208S	CUL7_ENST00000265348.3_Silent_p.S1124S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1124					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGTCGTGGCTTCTGTTTC	0.617000													13	16					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136513157	136513157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136513157C>T	ENST00000272638.9	+	5	715	c.404C>T	c.(403-405)tCt>tTt	p.S135F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	135					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTACTCCATCTGCGTCATTT	0.383000													20	22					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187487	62187487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187487G>A	ENST00000370098.3	+	2	563	c.471G>A	c.(469-471)gcG>gcA	p.A157A	C20orf195_ENST00000370097.1_Silent_p.A157A	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	157										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGACTGGGCGCTGGTGGAGC	0.687000													9	11					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149905195	149905195	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905195C>T	ENST00000445323.2	+	11	1330	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	MTMR1_ENST00000541925.1_Silent_p.I301I|MTMR1_ENST00000451863.2_Silent_p.I395I|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Silent_p.I395I|MTMR1_ENST00000370390.3_Silent_p.I395I			Q13613	MTMR1_HUMAN	myotubularin related protein 1	395	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTCGATCGATGAGGCGC	0.448000													27	45					0	0	1	0	0
RP11-119F19.2	0	broad.mit.edu	37	10	81442927	81442927	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81442927G>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							TCCCAGAGGCGCTCCTAGCAG	0.632000													3	8					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577643	42577643	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42577643A>G	ENST00000433647.1	+	14	1745	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	VIPR1_ENST00000438259.2_Missense_Mutation_p.N205S|VIPR1_ENST00000543411.1_Missense_Mutation_p.N367S|VIPR1_ENST00000325123.4_Missense_Mutation_p.N415S	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	415					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGGGCTGGAACCCCAAATAC	0.701000													3	6					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57905572	57905572	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57905572G>A	ENST00000262027.5	+	12	1594	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	MARS_ENST00000315473.5_Missense_Mutation_p.R253Q|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512000													14	20					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100368606C>A	ENST00000273352.3	+	11	1602	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	GPR128_ENST00000475887.1_Missense_Mutation_p.S150Y	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348000													26	47					1.75199e-13	2.22232e-13	1	1	0
TMEM117	84216	broad.mit.edu	37	12	44781981	44781981	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44781981A>G	ENST00000266534.3	+	8	1198	c.1071A>G	c.(1069-1071)ctA>ctG	p.L357L	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L253L|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	357						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAACCAAGCTATCCTGGGAAT	0.413000													5	61					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115752	104115752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:104115752G>T	ENST00000361355.4	+	5	999	c.383G>T	c.(382-384)aGt>aTt	p.S128I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	128					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGAACAAGCAGTACCTGTGGA	0.403000													146	487					8.96501e-55	1.21306e-54	1	1	0
SFSWAP	6433	broad.mit.edu	37	12	132212924	132212924	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212924C>T	ENST00000261674.4	+	7	1173	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	SFSWAP_ENST00000541286.1_Silent_p.N344N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	344					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCCCACACAACGCAGACGGTG	0.572000													25	46					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130078384	130078384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130078384C>T	ENST00000278742.5	+	17	2492	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	692	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGCAGGAGCGCAGGCTCAA	0.622000													3	21					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998068	38998068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38998068G>A	ENST00000359357.3	+	91	13627	c.13373G>A	c.(13372-13374)cGa>cAa	p.R4458Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4422Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACCCAGGCGAACTGATTTG	0.488000													29	26					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14131769	14131769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14131769G>T	ENST00000379153.3	+	3	343	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502000													4	45					0.00909568	0.00947522	1	1	0
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000472280.1_Silent_p.S3S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000433243.2_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000494292.1_Silent_p.S191S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458000													16	25					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													9	58					0	0	1	0	0
PCDHB16	0	broad.mit.edu	37	5	140562669	140562669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562669C>T	ENST00000361016.2	+	1	1690	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCATTTCCGGGTTCTAAT	0.448000													21	20					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131228096	131228096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131228096G>A	ENST00000298542.4	-	5	531	c.356C>T	c.(355-357)gCg>gTg	p.A119V	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104V|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCATCAACGCTGTACAGTT	0.443000													76	120					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941704	52941704	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52941704G>T	ENST00000394752.3	-	18	2334	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	SFMBT1_ENST00000296295.6_Missense_Mutation_p.P651H|SFMBT1_ENST00000394750.1_Missense_Mutation_p.P651H|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P651H	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	651					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATGCCCACCAGGTGGCCTCCC	0.388000													9	61					1.12685e-05	1.27857e-05	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3212183	3212183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3212183C>T	ENST00000380059.3	-	8	971	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SLC4A11_ENST00000539553.1_Silent_p.K247K|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.K263K	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	263					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATCGCAGTCTTAGTGCTTT	0.602000													16	40					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216348	2216348	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216348G>A	ENST00000398665.3	+	20	2028	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGTGCCGCCTGACGACG	0.677000													5	44					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454022	35454022	+	Missense_Mutation	SNP	C	C	T	rs143951734	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35454022C>T	ENST00000378880.2	-	11	2490	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	PAMR1_ENST00000532848.1_Missense_Mutation_p.R642H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R699H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	682	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGATGCCAGCGTGGCTCAGG	0.567000													29	36					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686268	55686268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55686268C>T	ENST00000354308.3	-	7	1177	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SYT5_ENST00000590851.1_Missense_Mutation_p.D266N|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.D270N	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	270	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCCTACGTCCATCTTCTTC	0.592000													6	41					0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23408358	23408358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23408358G>A	ENST00000376510.3	+	4	525	c.422G>A	c.(421-423)cGc>cAc	p.R141H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	141					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCAGCTCGCACAGAGGTT	0.512000													22	29					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450366	110450366	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110450366A>G	ENST00000260283.4	-	16	3588	c.3304T>C	c.(3304-3306)Tcc>Ccc	p.S1102P	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1076P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1079P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S645P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1076P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCACAGGGGACAGTCCTTCA	0.532000													27	51					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148886181	148886181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148886181G>A	ENST00000336498.3	+	17	1696	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G135D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	486	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAAAGCGGCAGCCCAGAA	0.308000													6	43					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140515416	140515416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140515416C>T	ENST00000231134.5	+	1	617	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		134					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGTTCCCAGAGAAGGA	0.443000													22	44					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850778	49850778	+	Silent	SNP	G	G	A	rs144077688	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49850778G>A	ENST00000333486.3	-	3	422	c.264C>T	c.(262-264)gcC>gcT	p.A88A	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	88	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGAGGCCTCGGCTCTGCTCC	0.587000													4	46					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14962439	14962439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14962439T>C	ENST00000287667.7	+	16	2012	c.1841T>C	c.(1840-1842)gTg>gCg	p.V614A		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	614						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGTGAGAATGTGGGGATTTAT	0.403000													11	143					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113831905	113831905	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113831905G>A	ENST00000393197.2	+	2	453		c.e2-1		IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Splice_Site	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TACTGTTTCAGAATTAAATAT	0.517000													7	20					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51096641G>A	ENST00000395542.2	-	12	2582	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	COBL_ENST00000265136.7_Nonsense_Mutation_p.R718*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718								p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507000													26	43					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148591866	148591866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148591866C>T	ENST00000322396.6	-	5	1014	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PRMT10_ENST00000541232.1_Missense_Mutation_p.D145N|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	258						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAACCTGCATCGACAGTTTCT	0.328000													32	56					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993743	49993743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49993743G>A	ENST00000391857.4	+	4	242	c.166G>A	c.(166-168)Gct>Act	p.A56T	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GAAGTACCTGGCTTTCCTCCG	0.622000													20	21					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578059	2578059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2578059C>T	ENST00000340611.4	-	14	2366	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	704					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCACAAAAGGCGAAGTCAAAG	0.617000													13	61					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748108	102748108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102748108C>A	ENST00000370228.1	+	1	326	c.141C>A	c.(139-141)gcC>gcA	p.A47A	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.A47A	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	47					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCTCCAAGCCTTGGATATGC	0.607000													11	71					6.40141e-05	7.11719e-05	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111494608	111494608	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111494608A>C	ENST00000369763.4	-	2	1288	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGGCGTAAAAGGCTGTAGA	0.343000													53	52					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313457	18313457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313457C>A	ENST00000396253.3	-	15	2092	c.1630G>T	c.(1630-1632)Ggt>Tgt	p.G544C	HPS5_ENST00000438420.2_Missense_Mutation_p.G544C|HPS5_ENST00000349215.3_Missense_Mutation_p.G658C|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	658						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGAAACACCTGAAAAGTCC	0.353000									Hermansky-Pudlak syndrome				8	95					3.09899e-07	3.63227e-07	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3209033	3209033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209033C>A	ENST00000380059.3	-	19	2660	c.2559G>T	c.(2557-2559)caG>caT	p.Q853H	SLC4A11_ENST00000539553.1_Missense_Mutation_p.Q810H|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Q826H	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	826	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATCTTCCTCTGGGGCACCC	0.642000													6	93					0.0215528	0.0221649	1	1	0
ADPGK	83440	broad.mit.edu	37	15	73052808	73052808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73052808C>T	ENST00000311669.8	-	4	676	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	195	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCTGGTGGAACAAAGACATTG	0.473000													42	74					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237190	5237190	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5237190T>C	ENST00000274181.7	+	14	2270	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	711	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGTAATGTTTGTATAGAT	0.393000													34	58					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200826	101200826	+	Missense_Mutation	SNP	G	G	A	rs138651182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101200826G>A	ENST00000341267.4	+	5	987	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAAGAAGCGCGCGCTGAGCCC	0.682000													6	55					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131819745	131819745	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131819745C>A	ENST00000245414.4	-	10	1134	c.876G>T	c.(874-876)caG>caT	p.Q292H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q292H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	292					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGAAGACACGCTGTAGACTCA	0.572000													8	19					1.58986e-06	1.84011e-06	1	1	0
CEP63	80254	broad.mit.edu	37	3	134277156	134277156	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134277156G>T	ENST00000337090.3	+	13	1813	c.1640G>T	c.(1639-1641)aGc>aTc	p.S547I	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S547I|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.S547I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	547					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAACACACAGCAGAACAACT	0.299000													4	57					1.23904e-05	1.39987e-05	1	1	0
NUDT11	0	broad.mit.edu	37	X	51239031	51239031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51239031C>T	ENST00000375992.3	-	1	417	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	89	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCTGTGCTTGCGATCCTGGTT	0.582000										HNSCC(48;0.14)			31	36					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978154	247978154	+	Missense_Mutation	SNP	G	G	A	rs111974834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247978154G>A	ENST00000357627.1	-	1	877	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACCTTTATGGCCTTGTTTCT	0.378000													22	42					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30904663	30904663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30904663G>A	ENST00000375712.3	+	5	1901	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	KIF3B_ENST00000418717.2_Silent_p.R204R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCACCAGGGAGCTGAAAC	0.517000													10	24					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587000													52	76					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25051995	25051995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25051995C>T	ENST00000381989.3	-	14	1738	c.1632_splice	c.e14-1	p.D545_splice		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	545	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATTCATCATCCTAGAGCAAA	0.308000													16	21					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77450859	77450859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77450859G>A	ENST00000560626.2	-	5	3792	c.3317C>T	c.(3316-3318)aCa>aTa	p.T1106I	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1106I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1106					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GTTGCTGTATGTTGCACTACA	0.403000													24	47					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42213499	42213499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42213499C>A	ENST00000373100.1	+	14	1407	c.947C>A	c.(946-948)cCt>cAt	p.P316H	SGK2_ENST00000341458.4_Missense_Mutation_p.P376H|SGK2_ENST00000373092.3_Missense_Mutation_p.P316H|SGK2_ENST00000373077.1_Missense_Mutation_p.P315H|SGK2_ENST00000426287.1_Missense_Mutation_p.P342H|SGK2_ENST00000423407.3_Missense_Mutation_p.P316H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	376	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAGGACCTGCTGACTTG	0.542000													42	123					9.39024e-22	1.23681e-21	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129772399	129772399	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129772399A>G	ENST00000358825.5	-	22	3523	c.3292T>C	c.(3292-3294)Tta>Cta	p.L1098L	PRDM10_ENST00000304538.6_Silent_p.L961L|PRDM10_ENST00000360871.3_Silent_p.L1094L|PRDM10_ENST00000526082.1_Silent_p.L1012L|PRDM10_ENST00000423662.2_Silent_p.L999L|PRDM10_ENST00000528746.1_Silent_p.L1055L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTTCTGATAACACATAATGA	0.488000													13	31					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28605515	28605515	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605515A>G	ENST00000545336.1	+	14	1448	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	CCDC91_ENST00000381256.1_Silent_p.E307E|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.E313E|CCDC91_ENST00000381259.1_Silent_p.E343E|CCDC91_ENST00000539107.1_Silent_p.E307E			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	343	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAAGACAGAACATGCAAAAG	0.299000													16	40					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18186034	18186034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18186034G>T	ENST00000321105.5	-	16	2213	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	TOP3A_ENST00000540524.1_Missense_Mutation_p.L197I|TOP3A_ENST00000542570.1_Missense_Mutation_p.L572I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	667					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGTCTTAAGGACCATGTCC	0.577000													7	116					5.18039e-06	5.91835e-06	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3670648	3670648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3670648G>T	ENST00000344754.4	-	18	4854	c.4855C>A	c.(4855-4857)Ctg>Atg	p.L1619M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1619M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1619	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGAGCCCAGGACATTTGAG	0.602000													13	16					3.45872e-05	3.88335e-05	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110498895	110498895	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110498895C>A	ENST00000378402.5	+	59	9829	c.9725C>A	c.(9724-9726)cCt>cAt	p.P3242H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3242					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATGTCCCTGGAACTGGT	0.423000										HNSCC(38;0.096)			11	135					0.0135373	0.0140872	1	1	0
BIN3	55909	broad.mit.edu	37	8	22479052	22479052	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22479052G>T	ENST00000276416.6	-	9	713	c.645C>A	c.(643-645)atC>atA	p.I215I	BIN3_ENST00000519513.1_Silent_p.I161I|BIN3_ENST00000399977.4_Silent_p.I167I|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	215	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCTCCAAAGATCTTGTGCA	0.622000													29	38					2.85442e-18	3.71821e-18	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120458048	120458048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120458048C>T	ENST00000256646.2	-	34	7516	c.7297G>A	c.(7297-7299)Gct>Act	p.A2433T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2433					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCAGAAGCAGAGTGGGGT	0.597000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	87					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922740	235922740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922740G>T	ENST00000389794.3	-	23	6587	c.6413C>A	c.(6412-6414)aCt>aAt	p.T2138N	LYST_ENST00000389793.2_Missense_Mutation_p.T2138N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2138					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCAACATAAGTATCTGCAAT	0.418000													54	66					4.1673e-28	5.5674e-28	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80623083	80623083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80623083G>A	ENST00000458043.2	+	7	515	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.R170Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTTGTTATCGGTCAATCAGC	0.348000													46	60					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050709	196050709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196050709G>T	ENST00000446879.1	-	5	730	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.F177L|TM4SF19_ENST00000273695.3_Missense_Mutation_p.F203L|TM4SF19-AS1_ENST00000452051.1_RNA			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAGGCTGCAGAAAAGGCCCA	0.537000													19	40					4.35082e-09	5.25983e-09	1	1	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209518C>A	ENST00000396193.1	-	3	780	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000													9	154					0.000673444	0.000724755	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15942850	15942850	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942850A>G	ENST00000268712.3	-	44	7109	c.6852T>C	c.(6850-6852)gtT>gtC	p.V2284V	NCOR1_ENST00000395851.1_Silent_p.V2181V|NCOR1_ENST00000395857.3_Silent_p.V868V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2284	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGACATGACAACTCCATGAT	0.502000													7	47					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120776	12120776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120776G>A	ENST00000379388.2	+	4	1080	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	250					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTTCACAGGAATTGGTTGC	0.423000													52	94					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29324279	29324279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29324279G>A	ENST00000535306.2	+	5	778	c.764G>A	c.(763-765)cGt>cAt	p.R255H	RNF135_ENST00000324689.4_Missense_Mutation_p.R179H|RNF135_ENST00000328381.5_Silent_p.P233P|RNF135_ENST00000443677.2_Missense_Mutation_p.R131H	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN	ring finger protein 135	0	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TGGAAGCCCCGTCTTCCTCCT	0.478000													18	35					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9345184G>A	ENST00000261336.2	-	12	1434	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_ENST00000381997.2_Missense_Mutation_p.T338M	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.T338M(1)|p.T469M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512000													4	67					0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1584372	1584372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1584372C>T	ENST00000566264.1	+	1	799	c.96C>T	c.(94-96)tgC>tgT	p.C32C	TMEM204_ENST00000253934.5_Silent_p.C32C|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	32					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				ACTGGGTGTGCCAGACGCTGG	0.701000													39	37					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083027	9083027	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9083027G>A	ENST00000400906.1	-	3	260	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	87						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.G87G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517000													80	89					0	0	1	0	0
ZNF330	27309	broad.mit.edu	37	4	142151400	142151400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142151400G>A	ENST00000262990.4	+	7	727	c.499G>A	c.(499-501)Gtt>Att	p.V167I	ZNF330_ENST00000421169.2_Missense_Mutation_p.V107I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	167						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGCTGCCAGGTTTTAGAGGC	0.308000													30	44					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86468230	86468230	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86468230A>G	ENST00000361669.2	+	4	2499	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	GRM3_ENST00000536043.1_Missense_Mutation_p.N339S|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.N59S|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	467					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGCGATACAACGTGTTCAAT	0.403000													23	19					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7902734	7902734	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7902734C>A	ENST00000377532.3	+	21	3776	c.3552C>A	c.(3550-3552)gcC>gcA	p.A1184A	PER3_ENST00000361923.2_Silent_p.A1175A			P56645	PER3_HUMAN	period circadian clock 3	1175	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGAGGCCTGTGTCACTT	0.443000													5	45					0.000602214	0.000649039	1	1	0
TTC32	130502	broad.mit.edu	37	2	20097755	20097755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20097755C>A	ENST00000333610.3	-	2	322	c.191G>T	c.(190-192)aGg>aTg	p.R64M	TTC32_ENST00000402414.1_Intron	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	64							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTGCCCCCTGTTGTTATA	0.388000													4	86					0.184627	0.186383	1	1	0
CAPNS2	84290	broad.mit.edu	37	16	55601375	55601375	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601375T>C	ENST00000457326.2	+	1	792	c.707T>C	c.(706-708)gTg>gCg	p.V236A	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	236	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CTGATTCAAGTGTCTATCAAA	0.463000													12	141					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400101	72400101	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72400101T>C	ENST00000340595.3	+	15	2502	c.2306T>C	c.(2305-2307)cTc>cCc	p.L769P	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L813P|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L813P|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L813P	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	813	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAACATAAACTCAAGGTAAGT	0.383000													3	36					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110415857	110415857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110415857C>T	ENST00000265175.5	+	6	1388	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	SEC24B_ENST00000399100.2_Missense_Mutation_p.P410S|SEC24B_ENST00000504968.2_Missense_Mutation_p.P476S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	445					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTTCAGCTCCAGCTCCTGT	0.493000													5	91					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123596249	123596249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123596249G>T	ENST00000369043.3	-	10	1327	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ATE1_ENST00000540606.1_Missense_Mutation_p.P407H|ATE1_ENST00000535655.1_Missense_Mutation_p.P115H|ATE1_ENST00000543447.1_Missense_Mutation_p.P299H|ATE1_ENST00000224652.6_Missense_Mutation_p.P414H|ATE1_ENST00000369040.3_Missense_Mutation_p.P318H	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	414					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCATCTTGGGACATGAATG	0.308000													5	58					0.000602214	0.000649039	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67185056	67185056	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67185056C>T	ENST00000371037.4	+	19	1787	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SGIP1_ENST00000435165.2_Silent_p.V75V|SGIP1_ENST00000371035.3_Silent_p.V360V|SGIP1_ENST00000371036.3_Silent_p.V372V|SGIP1_ENST00000371039.1_Silent_p.V373V|SGIP1_ENST00000237247.6_Silent_p.V601V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	570					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAAACAGTCAATGCCTATT	0.458000													12	16					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90315107	90315107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90315107G>T	ENST00000469640.2	+	24	3201	c.2826G>T	c.(2824-2826)aaG>aaT	p.K942N	DAPK1_ENST00000358077.5_Missense_Mutation_p.K942N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K876N|DAPK1_ENST00000408954.3_Missense_Mutation_p.K942N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K942N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	942					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACATGAAGGTACTTCGAA	0.463000									Chronic Lymphocytic Leukemia, Familial Clustering of				35	81					4.3181e-19	5.64621e-19	1	1	0
BCAR1	9564	broad.mit.edu	37	16	75263741	75263741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75263741C>T	ENST00000546196.1	-	7	3846	c.2194G>A	c.(2194-2196)Gcc>Acc	p.A732T	BCAR1_ENST00000535626.2_Missense_Mutation_p.A613T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A779T|BCAR1_ENST00000542031.2_Missense_Mutation_p.A759T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.A761T|BCAR1_ENST00000420641.3_Missense_Mutation_p.A779T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A779T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A807T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A761T			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	761					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGTCCACGGCGTTGGTCAGT	0.652000													44	63					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260841	16260841	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260841G>A	ENST00000375759.3	+	11	8310	c.8106G>A	c.(8104-8106)ggG>ggA	p.G2702G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2702	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTTACGGGGCCAGTGAATG	0.592000													16	36					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68224912	68224912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68224912G>A	ENST00000349223.5	+	9	2564	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.M780I|NFATC3_ENST00000329524.4_Missense_Mutation_p.M780I|NFATC3_ENST00000575270.1_Missense_Mutation_p.M780I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	780					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AACAGCATATGATTCCTTCTC	0.448000													6	208					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15546060	15546060	+	Missense_Mutation	SNP	G	G	A	rs149266693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15546060G>A	ENST00000428417.1	+	3	1029	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TMEM51_ENST00000376014.3_Missense_Mutation_p.A195T|TMEM51_ENST00000376008.2_Missense_Mutation_p.A195T|TMEM51_ENST00000400796.3_Missense_Mutation_p.A195T|TMEM51_ENST00000434578.2_3'UTR	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTCTAAGTTGGCCAAACGACT	0.547000													32	37					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27413970	27413970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27413970C>T	ENST00000527372.1	-	38	5876	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1899H|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1862H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1899H|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1899					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCTTCTTGCGGCTCGCCTC	0.627000													3	3					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78619024	78619024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78619024C>A	ENST00000373298.2	-	2	282	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	47						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGAGCCCTCTTTTTCCTGG	0.408000													12	10					0.00136819	0.00146042	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160251596	160251596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160251596G>A	ENST00000264431.4	+	7	1349	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	310	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTAGCCCAATGGAAGTGGGCA	0.368000													33	61					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877871	200877871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200877871G>A	ENST00000367342.4	+	7	1043	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1orf106_ENST00000413687.2_Silent_p.V196V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	281										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AATCCCAAGTGCCAAAACCTC	0.607000													15	161					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86979116	86979116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86979116G>A	ENST00000283632.4	+	3	878	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	128	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACTTCTTTCGACAAGGAATG	0.473000													21	17					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49030697	49030697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49030697G>A	ENST00000376327.5	+	4	436	c.361G>A	c.(361-363)Gct>Act	p.A121T		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	121	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GGGCCTAATCGCTACGTGCCT	0.527000													16	20					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657789	143657789	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143657789C>A	ENST00000392899.1	+	1	763	c.726C>A	c.(724-726)gcC>gcA	p.A242A		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACACGTGTGCCTCTCACCTCA	0.507000													5	86					0.184627	0.186383	1	1	0
SFMBT1	51460	broad.mit.edu	37	3	52968829	52968829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52968829G>A	ENST00000394752.3	-	5	835	c.453_splice	c.e5+1	p.G151_splice	SFMBT1_ENST00000296295.6_Splice_Site_p.G151_splice|SFMBT1_ENST00000394750.1_Splice_Site_p.G151_splice|SFMBT1_ENST00000358080.2_Splice_Site_p.G151_splice	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	151					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATACTCACGCCCTCTAGCA	0.443000													17	17					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672740	141672740	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141672740G>T	ENST00000547270.1	-	1	833	c.750C>A	c.(748-750)gtC>gtA	p.V250V		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	250					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAAAAGGAGACAAGAGACT	0.502000													4	64					1	1	1	1	0
GPR84	0	broad.mit.edu	37	12	54756608	54756608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756608G>A	ENST00000551809.1	-	1	1663	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	GPR84_ENST00000267015.3_Missense_Mutation_p.A343V|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGACTCTGGCATCCAGAAT	0.537000													9	104					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88229379	88229379	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88229379T>C	ENST00000369536.5	-	14	1204	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	387					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACATCTCCTCTTCGAGTCTTC	0.398000													4	46					0	0	1	0	0
SNN	8303	broad.mit.edu	37	16	11770176	11770176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11770176C>T	ENST00000329565.5	+	2	473	c.261C>T	c.(259-261)caC>caT	p.H87H		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	87					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						CGGAAGTCCACGGCTGAGCCA	0.622000													13	18					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72274292	72274292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72274292G>A	ENST00000550746.1	+	4	312	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R91K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R83K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	83							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAAGAAAGAGGTCATCGA	0.338000													15	16					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Nonsense_Mutation	SNP	G	G	T	rs140826426	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201722764G>T	ENST00000434813.2	-	6	1057	c.723C>A	c.(721-723)taC>taA	p.Y241*	CLK1_ENST00000321356.4_Nonsense_Mutation_p.Y199*|CLK1_ENST00000409769.2_Nonsense_Mutation_p.Y22*	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378000													12	77					0.00010058	0.000111121	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85382937C>T	ENST00000258888.5	+	5	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTAGGTGTCGAGAAGAAGA	0.632000													27	43					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769219	88769219	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88769219G>A	ENST00000444431.1	+	0	3819				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAATGACCTAGCCAACAGCAT	0.547000													62	95					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500956	118500956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500956G>A	ENST00000311085.8	+	21	5031	c.4951G>A	c.(4951-4953)Gtg>Atg	p.V1651M	DMXL1_ENST00000539542.1_Missense_Mutation_p.V1651M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1651										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAAAGCTGTGATTTGGGG	0.299000													11	27					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102647349	102647349	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102647349G>T	ENST00000279441.4	-	5	817	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCACCGTAGAGAGACTGAATG	0.463000													15	63					3.41278e-10	4.19267e-10	1	1	0
TMEM2	23670	broad.mit.edu	37	9	74361227	74361227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74361227C>A	ENST00000377044.4	-	3	901	c.362G>T	c.(361-363)aGg>aTg	p.R121M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R121M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	121	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCCAATTCCTGAGACGAGG	0.418000													31	43					1.21669e-08	1.46242e-08	1	1	0
SH3RF3	344558	broad.mit.edu	37	2	110036088	110036088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110036088C>T	ENST00000309415.6	+	5	1393	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	465	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTCCAGCTGCCCCTCAACGT	0.662000													4	4					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110092436	110092436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110092436G>A	ENST00000355943.3	+	7	781	c.655G>A	c.(655-657)Gca>Aca	p.A219T	SLC25A46_ENST00000504098.1_Missense_Mutation_p.A73T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.A128T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.A219T|SLC25A46_ENST00000513807.1_Missense_Mutation_p.A57T|SLC25A46_ENST00000509432.1_Missense_Mutation_p.A6T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	219					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTTTATTCAGCAAGTCTGAT	0.264000													21	44					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196871	31196871	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31196871A>T	ENST00000357033.4	-	70	10344	c.10138T>A	c.(10138-10140)Ttt>Att	p.F3380I	DMD_ENST00000378680.2_Missense_Mutation_p.F312I|DMD_ENST00000361471.4_Missense_Mutation_p.F312I|DMD_ENST00000359836.1_Missense_Mutation_p.F920I|DMD_ENST00000378702.4_Missense_Mutation_p.F312I|DMD_ENST00000378723.3_Missense_Mutation_p.F312I|DMD_ENST00000378707.3_Missense_Mutation_p.F920I|DMD_ENST00000541735.1_Missense_Mutation_p.F920I|DMD_ENST00000378677.2_Missense_Mutation_p.F3376I|DMD_ENST00000474231.1_Missense_Mutation_p.F920I|DMD_ENST00000343523.2_Missense_Mutation_p.F920I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3380	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGGTTCGAAATTTGTTTTTT	0.433000													4	101					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898641	11898641	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11898641C>A	ENST00000346436.6	+	22	2505	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	CLCN6_ENST00000376487.3_Missense_Mutation_p.T796N|CLCN6_ENST00000376496.3_Missense_Mutation_p.T818N|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	818	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCCAACACCCACGTCTCC	0.617000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	41					0.0293803	0.0301098	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48731985	48731985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48731985G>T	ENST00000314191.2	-	68	9476	c.9420C>A	c.(9418-9420)ttC>ttA	p.F3140L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F3140L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3141	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCTGATGAACTCCTGAA	0.299000								Non-homologous end-joining					6	75					0.00307968	0.00325696	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109394328	109394328	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394328T>C	ENST00000370001.3	-	2	1227	c.959A>G	c.(958-960)aAa>aGa	p.K320R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K320R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K320R|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	320										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTCCCTTTCTGCTCTTG	0.408000													20	324					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19415397	19415397	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19415397G>T	ENST00000375267.2	-	98	14289	c.14286C>A	c.(14284-14286)acC>acA	p.T4762T	UBR4_ENST00000375224.1_Silent_p.T469T|UBR4_ENST00000375254.3_Silent_p.T4762T|UBR4_ENST00000375217.2_Silent_p.T4755T|UBR4_ENST00000375226.2_Silent_p.T4738T|UBR4_ENST00000543981.1_Silent_p.T426T|UBR4_ENST00000429347.2_Silent_p.T285T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4762					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGCCAAGGTCCCAATGC	0.567000													5	63					0.014758	0.0152625	1	1	0
TG	7038	broad.mit.edu	37	8	133900548	133900548	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133900548C>T	ENST00000220616.4	+	10	2536	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	TG_ENST00000377869.1_Silent_p.V832V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	832	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGATGTCTTCCCGGTGC	0.527000													9	40					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96314935	96314935	+	Missense_Mutation	SNP	C	C	A	rs138619934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96314935C>A	ENST00000231368.5	+	2	805	c.113C>A	c.(112-114)cCt>cAt	p.P38H	LNPEP_ENST00000395770.3_Missense_Mutation_p.P24H	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	38					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTTACATCCTCTAGAGCCT	0.493000													5	100					3.59834e-05	4.01776e-05	1	1	0
CAMTA2	23125	broad.mit.edu	37	17	4883291	4883291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4883291G>T	ENST00000361571.5	-	8	1734	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	CAMTA2_ENST00000414043.3_Missense_Mutation_p.F465L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F442L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F442L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F444L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F447L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	442					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGGATGAAGAAGCAGTTTC	0.642000													30	70					3.03874e-20	3.98683e-20	1	1	0
TEKT5	146279	broad.mit.edu	37	16	10721459	10721459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10721459C>T	ENST00000283025.2	-	7	1510	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCCCACCAGGCGCGGGGTGCA	0.567000													34	63					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41814544	41814544	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41814544T>C	ENST00000379480.4	-	6	823	c.723A>G	c.(721-723)cgA>cgG	p.R241R	MTRF1_ENST00000430347.2_Silent_p.R254R|MTRF1_ENST00000379477.1_Silent_p.R241R	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	241					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACCGGAAATTCGGGCGGCTG	0.483000													12	26					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637000													6	19					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67812937	67812937	+	Missense_Mutation	SNP	C	C	T	rs143585515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67812937C>T	ENST00000255674.6	-	18	2678	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	RTTN_ENST00000454359.1_Missense_Mutation_p.A798T|RTTN_ENST00000437017.1_Missense_Mutation_p.A798T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	798							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTCTGGCGTCTATTAGA	0.418000													32	52					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118501575	118501575	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118501575A>G	ENST00000349139.4	+	26	2672	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	875						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCTTGTGCCAGTGATAGAAA	0.388000													26	43					0	0	1	0	0
GABRG2	0	broad.mit.edu	37	5	161569262	161569262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161569262G>A	ENST00000356592.3	+	7	1322	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I|GABRG2_ENST00000361925.4_Missense_Mutation_p.V288I|GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	288					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACTCATTGTCGTCCTATCCTG	0.433000													51	91					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30673355	30673355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30673355C>A	ENST00000389266.3	+	17	2340	c.2099C>A	c.(2098-2100)tCt>tAt	p.S700Y		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	700					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCTAGATCTCTGAGCTGCCC	0.458000													40	80					2.87052e-16	3.7018e-16	1	1	0
FAM3B	54097	broad.mit.edu	37	21	42729091	42729091	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42729091G>A	ENST00000398652.3	+	9	858	c.792G>A	c.(790-792)caG>caA	p.Q264Q	FAM3B_ENST00000398647.3_Silent_p.Q177Q|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Silent_p.Q225Q|FAM3B_ENST00000398646.3_Silent_p.Q248Q			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	225					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGAGATCCAGATAGAAGGCT	0.398000													42	85					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324528	79324528	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79324528G>A	ENST00000419573.3	-	7	1363	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y363Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	363	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCTCGTAGTGCTTCA	0.602000													8	16					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54629713	54629713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54629713C>T	ENST00000254442.3	+	26	4328	c.4117C>T	c.(4117-4119)Cgc>Tgc	p.R1373C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1340C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1373										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTTGGAGCTCGCCATGGTTC	0.423000													19	24					0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086827	50086827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50086827G>T	ENST00000246794.5	+	3	283	c.114G>T	c.(112-114)caG>caT	p.Q38H	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	38						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAGGCCCAGAGCTTCCTGA	0.577000													38	118					8.69298e-16	1.1177e-15	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167847744	167847744	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167847744A>C	ENST00000367848.1	-	12	1567	c.1070T>G	c.(1069-1071)gTt>gGt	p.V357G	ADCY10_ENST00000367851.4_Missense_Mutation_p.V449G|ADCY10_ENST00000545172.1_Missense_Mutation_p.V296G			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	449	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTTCATAACTTTCTTTGG	0.408000													42	56					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121461726	121461726	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121461726C>A	ENST00000260197.7	+	31	4359	c.4230C>A	c.(4228-4230)ccC>ccA	p.P1410P	SORL1_ENST00000534286.1_Silent_p.P320P|SORL1_ENST00000527934.1_Silent_p.P25P|SORL1_ENST00000525532.1_Silent_p.P354P|SORL1_ENST00000532694.1_Silent_p.P256P	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1410					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATATTCTTCCCTTCTCGACTC	0.512000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	252					2.27111e-07	2.66951e-07	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44803800	44803800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44803800C>T	ENST00000291182.4	-	3	203	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF235_ENST00000589248.1_Missense_Mutation_p.R34Q|ZNF235_ENST00000589799.1_Missense_Mutation_p.R34Q	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATCACATCTCGGTACAGCTT	0.527000													51	81					0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134301387	134301387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134301387C>T	ENST00000237264.4	+	2	399	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TBPL1_ENST00000367871.1_Missense_Mutation_p.R42C	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	42					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATTTATAAACGTGATGTTGG	0.289000													30	70					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372131	34372131	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372131C>T	ENST00000297625.7	-	2	934	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	271					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCGGCCGGCGGGTGGCTTG	0.642000													3	17					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52387488	52387488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52387488C>T	ENST00000420323.2	+	20	3580	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1107	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTGGCATGCGGATCCGGCA	0.607000													10	34					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64453335	64453335	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64453335G>T	ENST00000358025.3	+	19	2543	c.2313_splice	c.e19+1	p.K771_splice	SYNE2_ENST00000344113.4_Splice_Site_p.K771_splice|SYNE2_ENST00000554584.1_Splice_Site_p.K771_splice|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	771					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCTTTGAAGGTATGTGTGT	0.343000													35	61					2.42023e-17	3.13592e-17	1	1	0
CYTH2	9266	broad.mit.edu	37	19	48981590	48981590	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48981590A>G	ENST00000427476.1	+	10	1247	c.947A>G	c.(946-948)gAc>gGc	p.D316G	CYTH2_ENST00000452733.2_Missense_Mutation_p.D315G	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	316	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGTGGACGACCCCCGGAAA	0.607000													23	42					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492774	230492774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230492774C>T	ENST00000321327.2	-	4	714	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PGBD5_ENST00000525115.1_Missense_Mutation_p.E140K|PGBD5_ENST00000391860.1_Missense_Mutation_p.E94K			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	140						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGATCTTCTCGAAGCGGGCC	0.627000													28	28					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10566361	10566361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10566361C>T	ENST00000226951.6	-	7	572	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CLNK_ENST00000507719.1_Silent_p.P69P|CLNK_ENST00000442825.2_Silent_p.P69P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	111					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGTGTCTAACGGAAGGGGAG	0.433000													15	23					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507000													11	101					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20661389	20661389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20661389A>G	ENST00000202677.6	-	2	305	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	55					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGATGAAATATATCTGAGAA	0.259000													3	7					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19470274	19470274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19470274C>A	ENST00000407835.1	+	5	522	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CDC45_ENST00000404724.3_Intron|CDC45_ENST00000437685.2_Missense_Mutation_p.P89H|CDC45_ENST00000263201.1_Missense_Mutation_p.P89H|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	89					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTCTTCAACCTGATGAAGAC	0.363000													20	161					1.01871e-10	1.25892e-10	1	1	0
NDST4	64579	broad.mit.edu	37	4	115997817	115997817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:115997817C>A	ENST00000264363.2	-	2	1054	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	126	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTA	0.373000													7	55					2.0095e-06	2.31757e-06	1	1	0
EYS	346007	broad.mit.edu	37	6	66063498	66063498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:66063498G>T	ENST00000503581.1	-	9	1849	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	EYS_ENST00000370621.3_Missense_Mutation_p.P438T|EYS_ENST00000370616.2_Missense_Mutation_p.P438T|EYS_ENST00000370618.3_Missense_Mutation_p.P438T|EYS_ENST00000342421.5_Missense_Mutation_p.P438T|EYS_ENST00000393380.2_Missense_Mutation_p.P438T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	438					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCACCCTGGAATGCATACA	0.313000													4	61					1.23904e-05	1.39987e-05	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95173878	95173878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95173878T>C	ENST00000354268.4	+	9	1074	c.1001T>C	c.(1000-1002)aTg>aCg	p.M334T	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M334T			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	334					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTTTCAATGAAAGCACAA	0.308000													6	16					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74889813	74889813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74889813G>A	ENST00000241436.4	+	12	1639	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.K399K|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	489					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCATTGCTAAGGAATTGCTAA	0.323000								DNA polymerases (catalytic subunits)					4	106					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33646764	33646764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33646764C>T	ENST00000291416.5	-	1	503	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	90						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCAGGGTCGCGCGGCGCGGC	0.687000													4	5					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347170	222347170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222347170G>A	ENST00000281821.2	-	5	1261	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T356I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T407I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T407I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAATTGGTATGAGCTAG	0.507000													108	196					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80677716G>A	ENST00000557010.1	-	3	485	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	DIO2_ENST00000422005.3_Missense_Mutation_p.L34F|DIO2_ENST00000555750.1_Missense_Mutation_p.L34F|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L34I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562000													3	22					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951066	30951066	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30951066G>A	ENST00000402321.1	-	3	1463	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GAL3ST1_ENST00000402369.1_Silent_p.I382I|GAL3ST1_ENST00000406955.1_Silent_p.I382I|GAL3ST1_ENST00000338911.5_Silent_p.I382I|GAL3ST1_ENST00000406361.1_Silent_p.I382I|GAL3ST1_ENST00000443111.2_Silent_p.I382I|GAL3ST1_ENST00000401975.1_Silent_p.I382I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	382					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGCTGCCCGATGCTCTTCT	0.672000													24	30					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155649201	155649201	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649201G>A	ENST00000368340.5	-	3	646	c.539_splice	c.e3+1	p.R180_splice	YY1AP1_ENST00000368330.2_Splice_Site_p.R42_splice|YY1AP1_ENST00000295566.4_Splice_Site_p.R108_splice|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Splice_Site_p.R42_splice|YY1AP1_ENST00000438245.2_Splice_Site_p.R42_splice|YY1AP1_ENST00000405763.3_Splice_Site_p.R180_splice|YY1AP1_ENST00000361831.5_Splice_Site_p.R31_splice|YY1AP1_ENST00000368339.5_Splice_Site_p.R180_splice|YY1AP1_ENST00000347088.5_Splice_Site_p.R42_splice|YY1AP1_ENST00000359205.5_Splice_Site_p.R31_splice|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Splice_Site_p.R31_splice|YY1AP1_ENST00000407221.1_Splice_Site_p.R31_splice|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Splice_Site_p.R42_splice	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTAGCCTACCGTAGAGCTTGA	0.453000													20	51					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731770	53731770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53731770C>A	ENST00000248706.3	+	4	763	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	182	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATGAAGTGTCTGTCAGTGAA	0.498000													9	203					0.00829132	0.00869385	1	1	0
ACD	65057	broad.mit.edu	37	16	67691948	67691948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67691948G>A	ENST00000219251.8	-	10	1727	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	ACD_ENST00000393919.4_Missense_Mutation_p.R469W	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	469					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AAAGGCGGCCGATTCTTGCAG	0.607000													34	29					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983150	58983150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983150G>A	ENST00000536459.2	+	4	2000	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	ZNF324_ENST00000535298.1_Missense_Mutation_p.G208S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G431S			O75467	Z324A_HUMAN	zinc finger protein 324	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCACAGTGCGGCCGCGCCTT	0.677000													11	33					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131953826	131953826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131953826C>T	ENST00000378823.3	+	21	3630	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	RAD50_ENST00000265335.6_Nonsense_Mutation_p.R1077*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1077					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318000								Homologous recombination					88	176					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52374808	52374808	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52374808T>G	ENST00000257963.4	+	4	713	c.636T>G	c.(634-636)atT>atG	p.I212M	ACVR1B_ENST00000415850.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000542485.1_Missense_Mutation_p.I160M|ACVR1B_ENST00000426655.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000541224.1_Missense_Mutation_p.I212M	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	212	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TACAAGAGATTATTGGCAAGG	0.498000											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61					0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793460	175793460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793460C>T	ENST00000310389.5	+	2	357	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	87							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGGATGGCGCAGGCAAGA	0.682000													9	12					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65432799	65432799	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65432799C>A	ENST00000304895.4	-	10	1702	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GUSB_ENST00000345660.6_Missense_Mutation_p.Q473H|GUSB_ENST00000421103.1_Missense_Mutation_p.Q378H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	524					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTTCTCAAACTGGGTGGCCA	0.483000													22	76					1.9806e-07	2.3338e-07	1	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1887032	1887032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1887032C>T	ENST00000357103.4	+	4	555	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ADIPOR2_ENST00000544470.1_3'UTR	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	102					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGGGAAGGTCGGTGGCGAGT	0.478000													16	36					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53277790	53277790	+	Silent	SNP	C	C	T	rs78575404	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53277790C>T	ENST00000448904.2	-	7	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LECT1_ENST00000377962.3_Silent_p.S315S	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	315					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCTGCAGGCCGAACGGCAGC	0.493000													15	41					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102484967	102484967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102484967C>A	ENST00000321521.9	+	8	1429	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L286I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L286I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	286					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCTGTTATTCTCAATGCACG	0.398000													5	50					3.59834e-05	4.01776e-05	1	1	0
AP1G2	8906	broad.mit.edu	37	14	24034396	24034396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24034396G>A	ENST00000308724.5	-	7	1509	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R252C	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	252					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557000													8	21					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149459812	149459812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149459812G>T	ENST00000286301.3	-	4	686	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.P132Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	132	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCCAGCACCGGGTCTGTGAG	0.642000													4	28					0.00024832	0.0002712	1	1	0
EP300	2033	broad.mit.edu	37	22	41574637	41574637	+	Missense_Mutation	SNP	C	C	T	rs145312648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574637C>T	ENST00000263253.7	+	31	8141	c.6922C>T	c.(6922-6924)Cgc>Tgc	p.R2308C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2308					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATCAAGTGCGCTCTCCCCA	0.612000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	26					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026457	147026457	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147026457T>C	ENST00000218200.8	+	14	1706	c.1477T>C	c.(1477-1479)Tca>Cca	p.S493P	FMR1_ENST00000370475.4_Missense_Mutation_p.S514P|FMR1_ENST00000370477.1_Missense_Mutation_p.S481P|FMR1_ENST00000440235.2_Missense_Mutation_p.S161P|FMR1_ENST00000439526.2_Missense_Mutation_p.S491P|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370470.1_Intron	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATTGGTCATTAGCTCC	0.498000									Fragile X syndrome				16	12					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86224236	86224236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86224236G>T	ENST00000314673.3	-	24	2556	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	SNX14_ENST00000369627.2_Missense_Mutation_p.L785M|SNX14_ENST00000346348.3_Missense_Mutation_p.L741M|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L742M|SNX14_ENST00000513865.1_Missense_Mutation_p.L513M	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	794					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACATACATCAGGTAATCATAG	0.333000													37	85					1.04594e-18	1.366e-18	1	1	0
FBXO47	494188	broad.mit.edu	37	17	37118187	37118187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118187G>T	ENST00000378079.2	-	3	494	c.295C>A	c.(295-297)Ctt>Att	p.L99I		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	99										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGCAGCTCAAGGTTATGAAAG	0.398000													5	108					1.06961e-07	1.26574e-07	1	1	0
TRAV17	0	broad.mit.edu	37	14	22465958	22465958	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22465958C>A	ENST00000390445.2	+	0	181																											TTTGGTGATTCTATGGCTTCA	0.458000													5	52					0.00116845	0.00124821	1	1	0
TERF1	7013	broad.mit.edu	37	8	73937122	73937122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73937122C>A	ENST00000276602.6	+	5	713	c.690C>A	c.(688-690)caC>caA	p.H230Q	TERF1_ENST00000276603.5_Missense_Mutation_p.H230Q	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	230	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTCAACACTTCAGCTACA	0.284000													4	30					0.00909568	0.00947522	1	1	0
DHX8	1659	broad.mit.edu	37	17	41601029	41601029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601029G>T	ENST00000262415.3	+	23	3549	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1159						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCACCACCAAGGAATACATGC	0.537000													6	84					5.9392e-07	6.91975e-07	1	1	0
GFPT1	2673	broad.mit.edu	37	2	69597161	69597161	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69597161T>G	ENST00000357308.4	-	3	373	c.195A>C	c.(193-195)aaA>aaC	p.K65N	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.K65N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	65	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGCCTTAACTTTTCCTTTCT	0.408000													9	89					0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230875554	230875554	+	Missense_Mutation	SNP	G	G	A	rs145410117		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230875554G>A	ENST00000373652.3	+	5	849	c.428G>A	c.(427-429)cGc>cAc	p.R143H	FBXO36_ENST00000283946.3_Missense_Mutation_p.R174H|FBXO36_ENST00000409992.1_Missense_Mutation_p.R154H			Q8NEA4	FBX36_HUMAN	F-box protein 36	174										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGGCAGCTCCGCAAGAGGAAA	0.542000													7	9					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433710	40433710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433710C>T	ENST00000221347.6	-	2	566	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	187	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATCGCCTGCTGGATAGAAC	0.567000													24	41					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62452065	62452065	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62452065G>A	ENST00000383710.4	-	25	3850	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Silent_p.D1128D|CADPS_ENST00000357948.3_Silent_p.D1088D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAATTAGTTCGTCTATTTTTG	0.363000													5	16					0	0	1	0	0
RPL35	11224	broad.mit.edu	37	9	127620260	127620260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127620260C>A	ENST00000348462.3	-	4	357	c.309G>T	c.(307-309)aaG>aaT	p.K103N	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	103					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTTCTTGGTCTTCAGGTTCT	0.607000													4	28					0.00116845	0.00124821	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609230	21609230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609230C>T	ENST00000425654.2	+	14	2138	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	CNKSR2_ENST00000379510.3_Missense_Mutation_p.A583V|CNKSR2_ENST00000543067.1_Missense_Mutation_p.A534V|CNKSR2_ENST00000279451.4_Missense_Mutation_p.A583V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	583					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGAAAGATGCGAAGAGTTAC	0.403000													72	82					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137813726	137813726	+	Missense_Mutation	SNP	G	G	A	rs148594666	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137813726G>A	ENST00000327532.2	-	4	1048	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	229						intracellular	zinc ion binding	p.A229V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567000													31	45					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	rs142359154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150901209G>A	ENST00000261800.5	-	18	10957	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3649					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607000													9	30					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515450	24515450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24515450G>A	ENST00000357578.3	+	5	927	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R233Q|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R274Q|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R173Q	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	261					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCCTGTTCTCGAAAGAATGCC	0.423000													38	55					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9164959	9164959	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9164959A>G	ENST00000328194.3	-	20	3698	c.3378T>C	c.(3376-3378)ccT>ccC	p.P1126P	DENND5A_ENST00000527700.1_Silent_p.P469P|DENND5A_ENST00000530044.1_Silent_p.P1126P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1126										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTTCTCAGGCTTATGGA	0.458000													29	261					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68543398	68543398	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68543398G>A	ENST00000322244.4	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	132					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294000													35	43					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801338	200801338	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200801338G>A	ENST00000358823.2	+	5	926	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R219Q|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R230Q	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	230	CH.					cytoplasm|microtubule	protein binding										GCTCGTTATCGGAAAGAGCAA	0.348000													20	37					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84383731	84383731	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383731G>T	ENST00000321945.7	-	9	1229	c.1121C>A	c.(1120-1122)aCt>aAt	p.T374N	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.T325N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	374					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTACTACCAGTATCTGCTTT	0.383000													69	116					5.98616e-33	8.0378e-33	1	1	0
SLTM	79811	broad.mit.edu	37	15	59185096	59185096	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59185096C>A	ENST00000380516.2	-	14	1985	c.1898_splice	c.e14+1	p.R633_splice	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Splice_Site_p.R202_splice	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	633	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCTACCTTCGAAGTTC	0.358000													9	84					0.00621372	0.00652201	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39959494	39959494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39959494C>T	ENST00000599117.1	+	15	1503	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SUPT5H_ENST00000359191.6_Missense_Mutation_p.S375F|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S379F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S375F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S379F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	379	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCATGTCTGCTGTGGTG	0.572000													18	36					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038361	37038361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038361C>T	ENST00000334116.7	-	6	1394	c.784G>A	c.(784-786)Gca>Aca	p.A262T	ZNF529_ENST00000591340.1_Missense_Mutation_p.A367T	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCCTTACATGCATAAGGTTTC	0.403000													5	97					0	0	1	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89100575	89100575	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89100575G>T	ENST00000393525.3	+	0	1089																											TAAAAGGAAAGATTTTGTCAA	0.328000													9	52					0.0477658	0.0488009	1	1	0
SLC35D1	23169	broad.mit.edu	37	1	67513002	67513002	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67513002G>A	ENST00000235345.5	-	7	667	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SLC35D1_ENST00000506472.2_Silent_p.N115N	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	194					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TTAGGACATCGTTTATCAGAA	0.338000													25	31					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191862734	191862734	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191862734C>T	ENST00000361099.3	-	9	1021		c.e9-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAACTACTTCCTAAAGGCAAT	0.313000													4	49					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1575652	1575652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1575652G>T	ENST00000407249.3	-	12	1245	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M	CDK11B_ENST00000341832.6_Missense_Mutation_p.L369M|CDK11B_ENST00000317673.7_Missense_Mutation_p.L414M|CDK11B_ENST00000340677.5_Missense_Mutation_p.L403M			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	426					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGGGCCGGCAGGTACTTGGGC	0.682000													14	15					8.34094e-07	9.69005e-07	1	1	0
MGAT2	4247	broad.mit.edu	37	14	50088095	50088095	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50088095C>A	ENST00000305386.2	+	1	607	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	37					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACGAGGCCCTCGCCCCACC	0.682000													8	10					5.18039e-06	5.91835e-06	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739839	38739839	+	Silent	SNP	G	G	A	rs149642957	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739839G>A	ENST00000449082.2	-	27	4871	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1624					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGACATACCGAAGATAGAGT	0.527000													10	102					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48715981	48715981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715981C>A	ENST00000314191.2	-	71	9861	c.9805G>T	c.(9805-9807)Gac>Tac	p.D3269Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.D3269Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3270	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCAATCGTCTCTGGTTTTT	0.498000								Non-homologous end-joining					9	89					2.17888e-05	2.45068e-05	1	1	0
WDR63	126820	broad.mit.edu	37	1	85559185	85559185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85559185T>G	ENST00000294664.6	+	9	1082	c.902T>G	c.(901-903)aTt>aGt	p.I301S	WDR63_ENST00000370596.1_Missense_Mutation_p.I262S|WDR63_ENST00000326813.8_Missense_Mutation_p.I262S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	301										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACACATTTATTGATGACTGG	0.373000													9	140					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466321	33466321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33466321C>T	ENST00000379471.2	-	17	2281	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.V680M			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	732					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATGGGCTCCACGTAGGCCGGA	0.612000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159533502C>T	ENST00000307765.5	+	8	919	c.668C>T	c.(667-669)tCt>tTt	p.S223F	RXFP1_ENST00000448688.2_Missense_Mutation_p.S142F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274000													11	14					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004162	187004162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004162A>C	ENST00000296795.2	+	4	1426	c.1322A>C	c.(1321-1323)aAt>aCt	p.N441T	TLR3_ENST00000504367.1_Missense_Mutation_p.N164T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	441					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGCCTTAATGAAATTGGG	0.418000													4	60					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146042358	146042358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146042358G>A	ENST00000296577.4	+	12	1692	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	393	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGAATGCTTGCTGGAAGACT	0.363000													6	118					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94467503	94467503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94467503C>T	ENST00000370225.3	-	45	6279	c.6193G>A	c.(6193-6195)Gac>Aac	p.D2065N	ABCA4_ENST00000536513.1_Missense_Mutation_p.D335N|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.D184N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2065	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCAGGCAGTCGGCGTAGACA	0.562000													37	28					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612511	86612511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86612511C>T	ENST00000320241.3	+	1	397	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	61					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ATCGCCATGGCGATCCAGGAC	0.672000													25	30					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10580867	10580867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10580867C>T	ENST00000234111.4	-	12	1879	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	ODC1_ENST00000405333.1_Missense_Mutation_p.A457T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	457					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAATACTAGCCGAAGCACAG	0.493000													20	48					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39766626	39766626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766626C>T	ENST00000301653.4	-	6	1301	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	413	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGGCAATCTCCTGCTCCAGC	0.637000													26	53					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	rs116046757	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190338996G>A	ENST00000314761.4	+	19	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363000													58	67					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17706523	17706523	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17706523C>T	ENST00000262077.2	-	1	95	c.96G>A	c.(94-96)ggG>ggA	p.G32G	NUP153_ENST00000537253.1_Silent_p.G32G|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	32					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGTTGTCGCCCCTGCTGGT	0.726000													7	16					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62550226	62550226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62550226G>A	ENST00000371158.2	+	33	4397	c.4283G>A	c.(4282-4284)tGt>tAt	p.C1428Y	INADL_ENST00000545929.1_Missense_Mutation_p.C101Y|INADL_ENST00000543708.1_Missense_Mutation_p.C212Y|INADL_ENST00000316485.6_Missense_Mutation_p.C1428Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1428					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCGCAACGTGTCCCATTGTC	0.507000													4	65					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946245G>A	ENST00000381254.2	+	4	644	c.430G>A	c.(430-432)Gct>Act	p.A144T	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.A144T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473000								Homologous recombination					33	60					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512000													19	30					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	408207	408207	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:408207C>A	ENST00000431843.2	-	4	513		c.e4-1		SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTTGACCCTGGGGATACC	0.612000													31	56					5.43694e-19	7.10666e-19	1	1	0
AADACL2	344752	broad.mit.edu	37	3	151475308	151475308	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151475308A>T	ENST00000356517.3	+	5	1241	c.1132A>T	c.(1132-1134)Act>Tct	p.T378S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	378						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCATTCATGACTTCACCATT	0.338000													43	68					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239443	146239443	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146239443G>T	ENST00000342435.4	-	7	1036	c.626C>A	c.(625-627)aCt>aAt	p.T209N	PLSCR1_ENST00000487389.1_Missense_Mutation_p.T202N|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Missense_Mutation_p.T128N	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	209					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGGTGCCAAGTCTGAATAAC	0.358000													32	32					4.31634e-10	5.29815e-10	1	1	0
PDE5A	8654	broad.mit.edu	37	4	120528342	120528342	+	Missense_Mutation	SNP	C	C	T	rs150282561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120528342C>T	ENST00000354960.3	-	2	582	c.263G>A	c.(262-264)cGt>cAt	p.R88H	PDE5A_ENST00000394439.1_Missense_Mutation_p.R36H|PDE5A_ENST00000264805.5_Missense_Mutation_p.R46H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	88					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTTATCTGCACGAGGACTCTG	0.507000													22	26					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160136380	160136380	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160136380A>T	ENST00000409990.3	-	3	731	c.475T>A	c.(475-477)Tca>Aca	p.S159T	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S159T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S159T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S159T	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCACCACATGAGGAGCCAGTG	0.428000													5	37					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66548517	66548517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66548517C>T	ENST00000359626.5	+	11	1539	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	459					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGATTAAGCAGTTTAAAGG	0.433000													25	35					0	0	1	0	0
DNM1P46	0	broad.mit.edu	37	15	100340420	100340420	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100340420G>A	ENST00000341853.1	-	0	506					NR_003260.1																						CCACGCGAGCGCAGGTTGGAC	0.602000													4	7					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27880070	27880070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27880070G>A	ENST00000303324.2	-	1	104	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATGAACTCCTGTGGGACACTC	0.368000													35	43					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15615599	15615599	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15615599C>A	ENST00000338950.5	-	6	492	c.387G>T	c.(385-387)gaG>gaT	p.E129D	DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129D	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAGGTTGTTCTCTACCTCCT	0.368000									Hermansky-Pudlak syndrome				40	52					8.16904e-11	1.01094e-10	1	1	0
ACTN2	88	broad.mit.edu	37	1	236912466	236912466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236912466G>A	ENST00000366578.4	+	14	1724	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	ACTN2_ENST00000546208.1_Missense_Mutation_p.E14K|ACTN2_ENST00000542672.1_Missense_Mutation_p.E520K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	520					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTTCACCTGGAGTTTGCCAA	0.408000													22	63					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45935397	45935397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935397C>T	ENST00000532681.1	-	9	1438	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PEX16_ENST00000241041.3_Missense_Mutation_p.R287H|PEX16_ENST00000378750.5_Missense_Mutation_p.R287H			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	287					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GAAAGGAGAGCGCAGCAGGTA	0.672000													17	26					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190630	38190630	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190630T>C	ENST00000355202.4	-	5	997	c.402A>G	c.(400-402)acA>acG	p.T134T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.T133T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAGTATGAATTGTTTGATGTA	0.368000													4	133					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52811745	52811745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52811745C>T	ENST00000273283.2	+	1	138	c.114C>T	c.(112-114)agC>agT	p.S38S	ITIH1_ENST00000542827.1_Silent_p.S38S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	38	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAAGAGCAGCGAGGTATATG	0.632000													4	28					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77692005	77692005	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77692005A>T	ENST00000296043.6	+	10	6529	c.5576A>T	c.(5575-5577)gAg>gTg	p.E1859V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1859	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGTGTTGAGAATGTCCTT	0.502000													4	90					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50719023	50719023	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50719023T>C	ENST00000008391.3	+	7	1353	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	375	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCAGAGACATTTAACACATT	0.403000													5	44					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118526364	118526364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118526364G>T	ENST00000361417.2	+	22	4335	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1261D|PHLDB1_ENST00000524713.1_Missense_Mutation_p.E451D|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E359D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1308	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCATTGAGGAAGTGTACT	0.592000													8	65					1.12685e-05	1.27857e-05	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113305097	113305097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113305097C>T	ENST00000263331.5	+	3	1025	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.R149C|POLR1B_ENST00000541869.1_Missense_Mutation_p.R187C|POLR1B_ENST00000417433.2_Missense_Mutation_p.R93C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	149					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGCAACTTACGTAACCTTCC	0.493000													8	62					0	0	1	0	0
CYB561	1534	broad.mit.edu	37	17	61513147	61513147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61513147C>T	ENST00000584031.1	-	4	653	c.354G>A	c.(352-354)tgG>tgA	p.W118*	CYB561_ENST00000392975.2_Missense_Mutation_p.V103M|CYB561_ENST00000448884.2_Missense_Mutation_p.V103M|CYB561_ENST00000360793.3_Missense_Mutation_p.V103M|CYB561_ENST00000582997.1_Missense_Mutation_p.V110M|CYB561_ENST00000542042.1_Missense_Mutation_p.V170M|CYB561_ENST00000392976.1_Missense_Mutation_p.V103M|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.V74M|CYB561_ENST00000581573.1_Missense_Mutation_p.V103M|CYB561_ENST00000582297.1_Missense_Mutation_p.V103M			P49447	CY561_HUMAN	cytochrome b561	0	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AACACCGCCACCAAGCCTGGG	0.557000													11	14					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921631	108921631	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921631T>G	ENST00000326853.5	+	7	992	c.539T>G	c.(538-540)gTt>gGt	p.V180G	SULT1C2_ENST00000437390.2_Missense_Mutation_p.V183G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.V132G|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V169G	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATTTCAGTGGTTTGGGGTTCC	0.428000													7	89					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656468	40656468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40656468T>C	ENST00000406785.1	-	2	1142	c.953A>G	c.(952-954)gAt>gGt	p.D318G	SLC8A1_ENST00000403092.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D318G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D318G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	318					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTCATCATCTTGGTCCCT	0.398000													5	162					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141176	65141176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65141176C>T	ENST00000371073.2	+	20	2820	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CACHD1_ENST00000290039.5_Silent_p.N889N|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	940					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATTGTCAACGAAACCTGCG	0.493000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	66					0	0	1	0	0
ZNF266	0	broad.mit.edu	37	19	9524768	9524768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524768G>A	ENST00000592904.1	-	5	2909	c.833C>T	c.(832-834)aCt>aTt	p.T278I	ZNF266_ENST00000588933.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T278I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T278I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T278I			Q14584	ZN266_HUMAN	zinc finger protein 266	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGAGGAAACAGTGAAGGCTCT	0.423000													32	50					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356262G>A	ENST00000524622.1	-	7	1667	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	474																	AAAGACCGACGCAGTTCTGGT	0.517000													75	121					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90384300	90384300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90384300A>C	ENST00000369393.3	-	79	12885	c.12770T>G	c.(12769-12771)cTc>cGc	p.L4257R	MDN1_ENST00000428876.1_Missense_Mutation_p.L4257R|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4257					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACACAGCTGAGGAGGTTCCT	0.512000													6	31					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056731	120056731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120056731C>T	ENST00000235547.6	+	4	730	c.591C>T	c.(589-591)agC>agT	p.S197S	HSD3B1_ENST00000528909.1_Silent_p.S195S|HSD3B1_ENST00000369413.3_Silent_p.S195S	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	195					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGGAAGGAAGCCGATTCCTTT	0.493000													41	60					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112697032	112697032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112697032G>A	ENST00000550722.1	-	19	2868	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F	HECTD4_ENST00000430131.2_Missense_Mutation_p.L539F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L789F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGTGACCAAGCATAGTAGCC	0.443000													5	57					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171702114	171702114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171702114C>A	ENST00000358196.3	+	8	1400	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	284					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAACTGGTCCTCTTCACCTC	0.507000													26	44					0.000117367	0.000129652	1	1	0
AQPEP	0	broad.mit.edu	37	5	115329463	115329463	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115329463A>T	ENST00000357872.4	+	6	1410	c.1286A>T	c.(1285-1287)aAt>aTt	p.N429I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		429					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTTACCATGAATTGGTGGAAC	0.303000													30	54					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796669	42796669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42796669C>T	ENST00000314073.5	+	6	774	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H200Y					GLTSCR1-like																		TCCCAGCCAGCATTTGTCTAA	0.438000													5	135					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1950364	1950364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1950364G>T	ENST00000278317.6	+	7	316	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.D35Y|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.D44Y|TNNT3_ENST00000446240.1_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CGCAGAGGAGGACGCGGAAGG	0.667000													7	113					0.00448238	0.00472561	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912736	150912736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150912736C>T	ENST00000329903.4	+	6	1794	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	587					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAGAACGAAGTGGCAA	0.547000													67	104					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156287301	156287301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156287301C>T	ENST00000295688.3	-	9	1077	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CCT3_ENST00000472765.2_Missense_Mutation_p.R221Q|CCT3_ENST00000368261.3_Missense_Mutation_p.R221Q|CCT3_ENST00000368259.2_Missense_Mutation_p.R228Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	266					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGGAGAATTCGGGTGAAGTC	0.473000													29	184					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2333211	2333211	+	Silent	SNP	G	G	A	rs144957382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2333211G>A	ENST00000301732.5	-	26	4711	c.4011C>T	c.(4009-4011)tgC>tgT	p.C1337C	ABCA3_ENST00000382381.3_Silent_p.C1279C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1337					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGGAGGGCGCAGAGGATGC	0.662000													16	17					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3560041	3560041	+	Silent	SNP	C	C	T	rs150428029		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3560041C>T	ENST00000046640.3	+	9	1226	c.633C>T	c.(631-633)caC>caT	p.H211H	CTNS_ENST00000414524.2_Silent_p.H64H|CTNS_ENST00000381870.3_Silent_p.H211H|CTNS_ENST00000441220.2_Silent_p.H103H|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	211					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCAGCCTGCACGCGGTTGTCC	0.612000													20	38					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902982	40902982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902982C>T	ENST00000324001.7	-	7	1547	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	426					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTCCGATGCCAAGGGAGGG	0.612000													35	51					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1380798	1380798	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380798C>T	ENST00000359786.5	-	14	1899		c.e14+1		MYO1C_ENST00000545534.2_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000575158.1_Splice_Site	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC						mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCCACTCACGTCAGGAAGT	0.637000													8	22					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512000													14	167					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597580	17597580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597580G>A	ENST00000252595.7	+	2	473	c.376G>A	c.(376-378)Gcg>Acg	p.A126T	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A126T	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	126					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTTCGCGCCGGGCGA	0.706000													4	6					0	0	1	0	0
CHIAP2	0	broad.mit.edu	37	1	111825252	111825252	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825252A>C	ENST00000369743.4	+	0	1041					NR_003928.1																						TCAGTCATCAAATTCCTGCGC	0.537000													9	68					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110603	57110603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57110603G>T	ENST00000454682.1	-	3	4992	c.4711C>A	c.(4711-4713)Cca>Aca	p.P1571T	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGGCTTCTTTG	0.587000			T	BCL6	NHL								5	24					0.00116845	0.00124821	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75441976	75441976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75441976C>T	ENST00000549446.1	-	4	2417	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNC2_ENST00000550433.1_Silent_p.T579T|KCNC2_ENST00000393288.2_Silent_p.T579T|KCNC2_ENST00000341669.3_Silent_p.T579T|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000298972.1_Silent_p.T579T|KCNC2_ENST00000548513.1_Silent_p.T579T|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	579					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCACCTGTCGTCAGTAGGA	0.468000													77	144					0	0	1	0	0
ZNF266	0	broad.mit.edu	37	19	9524262	9524262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524262G>A	ENST00000592904.1	-	5	3415	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	ZNF266_ENST00000588933.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H447Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.H447Y			Q14584	ZN266_HUMAN	zinc finger protein 266	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTGGAGGAATGCGTAAATGCT	0.428000													14	31					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197081742	197081742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197081742C>A	ENST00000260983.2	-	27	4666	c.4484G>T	c.(4483-4485)aGg>aTg	p.R1495M	HECW2_ENST00000409111.1_Missense_Mutation_p.R1139M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1495	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAACCTTAGTCGTTG	0.333000													7	79					8.12818e-05	8.99451e-05	1	1	0
ENAM	10117	broad.mit.edu	37	4	71500102	71500102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71500102G>A	ENST00000396073.3	+	6	569	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	96					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTGGCCTCAGCCACCACCCA	0.512000													6	102					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58004371	58004371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58004371G>T	ENST00000299638.3	+	3	1162	c.948G>T	c.(946-948)caG>caT	p.Q316H	POLR2M_ENST00000380563.2_Missense_Mutation_p.Q316H|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q713H|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q498H|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Missense_Mutation_p.Q159H	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		AGAAACAGCAGAAACAGAATT	0.428000													13	27					1.15088e-07	1.35723e-07	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111195533	111195533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195533G>A	ENST00000262839.2	-	2	1034	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	39					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTCCACAGCATTGAGGAA	0.527000													30	49					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604616	160604616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160604616C>A	ENST00000302035.6	-	3	836	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	SLAMF1_ENST00000538290.1_Missense_Mutation_p.G163C|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G163C|SLAMF1_ENST00000235739.5_Missense_Mutation_p.G163C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	163	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGTGCAGCCCAGTATCAAG	0.567000													30	75					4.34311e-12	5.44287e-12	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5461658	5461658	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461658C>T	ENST00000345221.3	-	4	2912		c.e4+1		NLRP1_ENST00000571307.1_Splice_Site|NLRP1_ENST00000354411.3_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000572272.1_Splice_Site|NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGTACTCACAGGACTACCA	0.567000													15	44					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70837939	70837939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70837939A>C	ENST00000358731.4	+	30	6522	c.6259A>C	c.(6259-6261)Att>Ctt	p.I2087L	BDP1_ENST00000380675.2_Missense_Mutation_p.I223L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2087					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGAATACAATTTCTAAAGT	0.358000													9	17					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807964	50807964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50807964G>T	ENST00000263046.4	+	7	1229	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	TFAP2B_ENST00000393655.3_Missense_Mutation_p.D346Y			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	346					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCAGCACACAGACCCGAGTGA	0.527000													25	53					7.92952e-12	9.92272e-12	1	1	0
QSER1	79832	broad.mit.edu	37	11	32953418	32953418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32953418C>T	ENST00000399302.2	+	4	562	c.227C>T	c.(226-228)tCa>tTa	p.S76L	QSER1_ENST00000527788.1_Missense_Mutation_p.S76L|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	76										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GCTACCACTTCACCTTTGGTG	0.428000													4	103					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57832019	57832019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57832019G>T	ENST00000379655.4	-	2	394	c.137C>A	c.(136-138)cCt>cAt	p.P46H	KIFC3_ENST00000541240.1_Missense_Mutation_p.P68H|KIFC3_ENST00000445690.2_Missense_Mutation_p.P46H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	46					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTGTGGGAAAGGGCGGGCGGC	0.672000													3	1					0.115264	0.117355	1	1	0
MPZL1	9019	broad.mit.edu	37	1	167757089	167757089	+	Silent	SNP	C	C	T	rs139028868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757089C>T	ENST00000359523.2	+	6	943	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MPZL1_ENST00000392121.3_Silent_p.S97S|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	247					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TAGACCACTCCGGCGGACATC	0.463000													18	20					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67725039	67725039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67725039C>T	ENST00000255674.6	-	37	5256	c.4970G>A	c.(4969-4971)tGt>tAt	p.C1657Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1657							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCCTGGACACATGTCTGTAT	0.413000													7	25					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113234560	113234560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113234560G>A	ENST00000401783.2	-	15	2979	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	SVEP1_ENST00000302728.8_Silent_p.Y881Y|SVEP1_ENST00000374469.1_Silent_p.Y858Y|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	881					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAAGTCATCGTAAGAGTAAT	0.478000													32	50					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84383808	84383808	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383808G>T	ENST00000321945.7	-	9	1152	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.A299A	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	348			A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536).		chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTAAGTCTAAGGCTTTATGCT	0.393000													10	152					7.48243e-07	8.70085e-07	1	1	0
COBL	23242	broad.mit.edu	37	7	51095461	51095461	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095461G>T	ENST00000395542.2	-	12	3762	c.3578C>A	c.(3577-3579)tCt>tAt	p.S1193Y	COBL_ENST00000265136.7_Missense_Mutation_p.S1111Y			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1111										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCAGGGCAGAGTGCAGGGA	0.542000													6	128					5.68852e-11	7.05143e-11	1	1	0
SRCRB4D	136853	broad.mit.edu	37	7	76024571	76024571	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76024571G>A	ENST00000275560.3	-	7	1292	c.946_splice	c.e7+1	p.S315_splice		NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	315						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTCTTTACCGGACGGATCTG	0.632000													14	51					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292268	53292268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53292268G>A	ENST00000552551.1	-	8	1670	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	KRT8_ENST00000546897.1_Missense_Mutation_p.T413M|KRT8_ENST00000293308.6_Missense_Mutation_p.T413M|KRT8_ENST00000552150.1_Missense_Mutation_p.T441M			P05787	K2C8_HUMAN	keratin 8	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGTCTTCGTATGAATACT	0.622000													3	11					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415619	186415619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186415619C>A	ENST00000391997.2	-	3	239	c.152G>T	c.(151-153)aGg>aTg	p.R51M	PDC_ENST00000340129.5_Missense_Mutation_p.R51M|PDC_ENST00000497198.1_De_novo_Start_InFrame|PDC_ENST00000456239.2_De_novo_Start_InFrame	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	51					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGACATTTGCCTGAGAATCTC	0.358000													4	88					2.56e-06	2.9446e-06	1	1	0
ATM	472	broad.mit.edu	37	11	108122575	108122575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108122575G>A	ENST00000278616.4	+	11	2004	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	ATM_ENST00000452508.2_Missense_Mutation_p.C540Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	540			C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.C540Y(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTGCAGTATGCTGTTTGACT	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			36	40					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100801232	100801232	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100801232G>A	ENST00000355338.2	-	11	2014	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	WARS_ENST00000358655.4_Silent_p.L425L|WARS_ENST00000344102.5_Silent_p.L425L|WARS_ENST00000557135.1_Silent_p.L466L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Silent_p.L466L|WARS_ENST00000556645.1_Silent_p.L425L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	466					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCGAAGGACAGCTTCCGGGGA	0.493000													20	43					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81725387	81725387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81725387T>C	ENST00000537098.3	+	11	1468	c.1396T>C	c.(1396-1398)Tat>Cat	p.Y466H	CMIP_ENST00000398040.4_Missense_Mutation_p.Y313H|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.Y372H	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	432						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TAGGTCAGACTATGATGACTG	0.527000													9	15					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171567	106171567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171567G>A	ENST00000541806.1	+	2	628	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G37S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G37S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTCTTATGTCGGTGCCAGCAT	0.547000													5	94					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130020367	130020367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130020367G>A	ENST00000011292.3	+	1	156	c.6G>A	c.(4-6)cgG>cgA	p.R2R		NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	2					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAGCATGCGGGGGTTGCTGG	0.632000													47	41					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466177	119466177	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119466177C>T	ENST00000369429.3	-	5	752	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TBX15_ENST00000207157.3_Missense_Mutation_p.R142H			Q96SF7	TBX15_HUMAN	T-box 15	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R142H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453000													15	39					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67537834	67537834	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67537834C>A	ENST00000590474.1	+	12	1232	c.945C>A	c.(943-945)acC>acA	p.T315T	MAP2K6_ENST00000589647.1_Silent_p.T259T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	315					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATTTTTCACCCTACATGAAT	0.358000													6	74					0.00116845	0.00124821	1	1	0
ESYT1	23344	broad.mit.edu	37	12	56532196	56532196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56532196G>T	ENST00000394048.5	+	22	2610	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.Q792H|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q792H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	782						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTGCTGCAGGTGAATAGTT	0.592000													3	8					0.184627	0.186383	1	1	0
HGS	9146	broad.mit.edu	37	17	79654062	79654062	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79654062C>T	ENST00000329138.4	+	4	363	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	76	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACTGTGGCCAGACAGTTC	0.622000													6	10					0	0	1	0	0
SLC25A20	788	broad.mit.edu	37	3	48896032	48896032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48896032C>A	ENST00000319017.4	-	8	949	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	SLC25A20_ENST00000430379.1_Missense_Mutation_p.D178Y|SLC25A20_ENST00000544097.1_Missense_Mutation_p.D201Y	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	251					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCAGCACATCTCTGAAACCA	0.498000													45	80					1.6237e-14	2.07233e-14	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269621	28269621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269621G>A	ENST00000405948.2	+	7	2410	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E664K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	664					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAATGTAGAACATATGAA	0.383000													37	53					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569693	142569693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142569693G>A	ENST00000359396.3	-	15	2190	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	649					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGAAGGCCTGTGCGTAGCGT	0.572000													27	86					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774563	47774563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47774563G>A	ENST00000376954.1	+	6	886	c.518G>A	c.(517-519)gGa>gAa	p.G173E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G173E			P51508	ZNF81_HUMAN	zinc finger protein 81	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGACTTTGGAAAATTTGTT	0.333000													16	33					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262895	39262895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262895G>A	ENST00000407418.3	-	5	681	c.558C>T	c.(556-558)ggC>ggT	p.G186G	CBX6_ENST00000216083.6_Silent_p.G168G			O95503	CBX6_HUMAN	chromobox homolog 6	186					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					cgcccccgccgccAGCGCCCT	0.677000													7	11					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399636	228399636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228399636C>T	ENST00000570156.2	+	2	226	c.152C>T	c.(151-153)gCg>gTg	p.A51V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A51V|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A51V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	51	Ig-like 1.		A -> T (in dbSNP:rs1771487).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCGGTGGCGGCCGGCGCG	0.692000													6	7					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38795439	38795439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38795439G>A	ENST00000449105.2	-	12	1814	c.1474_splice	c.e12-1	p.P492_splice	HNRNPLL_ENST00000409328.1_Splice_Site_p.P458_splice|HNRNPLL_ENST00000409636.1_Splice_Site_p.P487_splice|HNRNPLL_ENST00000378915.3_Splice_Site_p.P458_splice	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		TTTGGCTGAAGCTAAAACAAA	0.388000													17	28					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94054696	94054696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94054696G>A	ENST00000370244.1	-	7	1055	c.767C>T	c.(766-768)aCg>aTg	p.T256M	BCAR3_ENST00000370247.3_Missense_Mutation_p.T165M|BCAR3_ENST00000260502.6_Missense_Mutation_p.T256M|BCAR3_ENST00000370243.1_Missense_Mutation_p.T256M	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	256					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGGCACCGTCCTGTTGAT	0.672000													4	24					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634624	156634624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156634624C>T	ENST00000296518.7	+	7	1670	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	GUCY1A3_ENST00000393832.3_Silent_p.I229I|GUCY1A3_ENST00000506455.1_Silent_p.I487I|GUCY1A3_ENST00000455639.2_Silent_p.I487I|GUCY1A3_ENST00000511108.1_Silent_p.I487I|GUCY1A3_ENST00000511507.1_Silent_p.I487I|GUCY1A3_ENST00000513574.1_Silent_p.I487I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	487	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTCAGACATCGTTGGGTTCA	0.537000													17	30					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17246800	17246800	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246800A>G	ENST00000285681.2	+	23	3219	c.2850A>G	c.(2848-2850)ggA>ggG	p.G950G	USP25_ENST00000285679.6_Silent_p.G918G|USP25_ENST00000400183.2_Silent_p.G988G|USP25_ENST00000351097.5_Silent_p.G313G			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	918					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATACAGAGGACATGATGAAG	0.313000													56	63					0	0	1	0	0
MIR31HG	0	broad.mit.edu	37	9	21455840	21455840	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21455840G>A	ENST00000304425.3	-	0	545					NR_027054.1																						AACACCTGGAGACCTGCTTGG	0.542000													3	3					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6587819	6587819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6587819C>T	ENST00000254579.6	+	35	11773	c.11209C>T	c.(11209-11211)Cta>Tta	p.L3737L	DNHD1_ENST00000527990.2_Silent_p.L3737L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3737					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCCAAGTGCTAGGTTGTGA	0.507000													9	10					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25615895	25615895	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25615895T>A	ENST00000232165.3	-	6	2082	c.1426A>T	c.(1426-1428)Aca>Tca	p.T476S	UBE3A_ENST00000397954.2_Missense_Mutation_p.T479S|UBE3A_ENST00000438097.1_Missense_Mutation_p.T456S|UBE3A_ENST00000566215.1_Missense_Mutation_p.T456S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.T456S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	479	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAGGGACATGTCATAAAAGAG	0.308000													4	65					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100802609	100802609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100802609C>A	ENST00000268070.4	-	5	926	c.821G>T	c.(820-822)gGg>gTg	p.G274V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	274	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AATTTTAATCCCCAGGCTCTG	0.383000													5	118					0.000602214	0.000649039	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47663565	47663565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47663565G>A	ENST00000397708.1	-	25	5364	c.5110C>T	c.(5110-5112)Cct>Tct	p.P1704S	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1704S|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1704					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGAGGACAGGCTGTGTCTGG	0.612000													22	26					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416569	144416569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144416569G>A	ENST00000367569.2	-	1	185	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	22					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TGTCGGCGTGGCCCGTGCCGA	0.592000													19	24					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941223	111941223	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941223A>G	ENST00000530641.1	-	5	1075	c.750T>C	c.(748-750)atT>atC	p.I250I	PIH1D2_ENST00000280350.4_Silent_p.I250I|PIH1D2_ENST00000528775.1_Silent_p.I250I|PIH1D2_ENST00000431456.1_Silent_p.I250I|PIH1D2_ENST00000532211.1_Silent_p.I250I			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	250										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTTTCAACTCAATTTTCAGAG	0.368000													4	157					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	955517	955517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:955517C>A	ENST00000273814.3	-	20	2494	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	807					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TACTGGGCAGCTCCACCTCCT	0.652000													5	35					0.217242	0.218821	1	1	0
ITGA6	0	broad.mit.edu	37	2	173339741	173339741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173339741G>T	ENST00000375221.2	+	8	1391	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	ITGA6_ENST00000264106.6_Missense_Mutation_p.Q396H|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q357H|ITGA6_ENST00000409532.1_Missense_Mutation_p.Q238H|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q357H|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q352H			P23229	ITA6_HUMAN	integrin, alpha 6	396					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATGAACCAGCAAGGCAGAT	0.373000													27	47					9.04412e-07	1.0505e-06	1	1	0
SMAD7	4092	broad.mit.edu	37	18	46448197	46448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46448197G>A	ENST00000262158.2	-	4	1112	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	SMAD7_ENST00000591805.1_Missense_Mutation_p.L61F|SMAD7_ENST00000589634.1_Missense_Mutation_p.L275F|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	276	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACACAGTAGAGCCTCCCCACT	0.532000													16	24					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922548	24922548	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922548A>G	ENST00000329468.2	+	1	2008	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCTCCCGTCACAAGGGAGTC	0.542000													14	216					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167626996	167626996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167626996T>C	ENST00000519204.1	+	16	3045	c.2927T>C	c.(2926-2928)aTt>aCt	p.I976T	TENM2_ENST00000520394.1_Missense_Mutation_p.I865T|TENM2_ENST00000403607.2_Missense_Mutation_p.I921T|TENM2_ENST00000518659.1_Missense_Mutation_p.I1097T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1097T					teneurin transmembrane protein 2																		CTGAACCTCATTAGGGTTCAC	0.522000													7	79					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284256	152284256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152284256G>A	ENST00000368799.1	-	3	3141	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567000									Ichthyosis				252	275					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888474	3888474	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888474T>C	ENST00000319331.3	+	2	2910	c.2149T>C	c.(2149-2151)Taa>Caa	p.*717Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTACATGTGGTAACTCAGAGG	0.413000													10	12					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988279	116988279	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116988279T>A	ENST00000368576.3	-	2	320	c.77A>T	c.(76-78)gAa>gTa	p.E26V	ZUFSP_ENST00000368573.1_Missense_Mutation_p.E26V|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	26						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATTTCACTTTCCATGTGAAC	0.353000													7	76					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73571132	73571132	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571132C>T	ENST00000224721.6	+	62	9158	c.9153C>T	c.(9151-9153)aaC>aaT	p.N3051N	CDH23_ENST00000398788.3_Silent_p.N806N|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3046					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAACTACAACGTCCTGGACG	0.632000													6	49					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122619736	122619736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122619736C>A	ENST00000263461.6	+	4	714	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAAGAGCTATGCAGATA	0.413000													21	43					2.4624e-09	2.98951e-09	1	1	0
SCML2	10389	broad.mit.edu	37	X	18264933	18264933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18264933G>A	ENST00000251900.4	-	13	1745	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	SCML2_ENST00000398048.3_Missense_Mutation_p.A265V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	529					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTTCCCCCAGCAAACAATGG	0.378000													14	149					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180383346	180383346	+	Missense_Mutation	SNP	G	G	A	rs139953454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180383346G>A	ENST00000410066.1	-	5	1019	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ZNF385B_ENST00000336917.5_Missense_Mutation_p.A37V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A37V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A63V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	139						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAATAACCGCTTTTTGCAC	0.343000													51	61					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049264	58049264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049264C>T	ENST00000376233.3	+	4	1073	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	ZNF549_ENST00000240719.3_Missense_Mutation_p.H285Y|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGAGAATTCACACTAGAGA	0.433000													48	74					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817434	45817434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45817434C>T	ENST00000358525.4	-	4	516	c.401G>A	c.(400-402)gGc>gAc	p.G134D	SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134D|SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	134					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCATCGTAGCCCGTGTGGTT	0.567000													15	85					0	0	1	0	0
MIR516A2	0	broad.mit.edu	37	19	54264467	54264467	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54264467C>T	ENST00000384888.1	+	0	81					NR_030221.1																						CAGAGGGTTACGGTTTGAGAA	0.443000													28	47					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777687	43777687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43777687G>A	ENST00000372476.3	+	11	1594	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	TIE1_ENST00000433781.2_Silent_p.T150T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	505	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAACGTGACGTTAATGAACC	0.602000													20	42					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622000													23	32					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36050146C>T	ENST00000379919.4	-	1	686	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502000													24	53					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939873	50939873	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50939873G>T	ENST00000357701.5	+	5	396		c.e5-1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGGACCCAGGTGTACACCG	0.612000													17	31					4.7546e-09	5.74312e-09	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858813	105858813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105858813G>A	ENST00000258456.1	+	1	614	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	166						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGCCCTCGCTCACGGGCT	0.692000													9	15					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021868	3021868	+	Silent	SNP	C	C	T	rs142808297	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3021868C>T	ENST00000318782.8	+	3	1171	c.741C>T	c.(739-741)agC>agT	p.S247S	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.S180S|PAQR4_ENST00000574988.1_Silent_p.S180S|PAQR4_ENST00000293978.8_Silent_p.S208S|PAQR4_ENST00000572687.1_Silent_p.S173S	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	247						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACCTGCTGAGCGTGGGCTCCA	0.677000													4	45					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88628649	88628649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88628649G>A	ENST00000361671.5	+	17	1538	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	469					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGGTTGATGCAGCGCTTCA	0.383000													37	63					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99927652	99927652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99927652T>G	ENST00000331768.5	-	4	381	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETD3_ENST00000436070.2_Missense_Mutation_p.K74N|SETD3_ENST00000329331.3_Missense_Mutation_p.K74N|SETD3_ENST00000453938.1_Intron	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	74					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCTTCTCTTTTTCCATCAA	0.373000													44	67					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025201	91025201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025201C>A	ENST00000268182.5	+	27	3463	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	IQGAP1_ENST00000560738.1_Silent_p.P541P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1113	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACTGCCCTATGATGTGA	0.468000													5	30					0.0215528	0.0221649	1	1	0
IRX5	10265	broad.mit.edu	37	16	54967551	54967551	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:54967551G>A	ENST00000394636.4	+	3	1555	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	IRX5_ENST00000560154.1_Silent_p.A186A|IRX5_ENST00000558597.1_Silent_p.A340A|IRX5_ENST00000320990.5_Silent_p.A405A			P78411	IRX5_HUMAN	iroquois homeobox 5	406					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACTACACCGCGCCCTTCTATC	0.701000													7	28					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683654	50683654	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50683654A>G	ENST00000446044.1	+	10	1384	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Y263C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	263	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGGGCCAGTACGGCTTCCCC	0.607000													11	119					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790062	21790062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21790062A>G	ENST00000206660.6	+	13	1661	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H196R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H554R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H527R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	554				HK -> SQR (in Ref. 1; AAG10246).	response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGAGATCACAAAGAAAAG	0.398000													4	20					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96651589	96651589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96651589C>A	ENST00000222598.4	-	2	921	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A150S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	150					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGTAATGCGGCCAGCTGAAAG	0.498000													6	152					0.217242	0.218821	1	1	0
SP3	6670	broad.mit.edu	37	2	174819870	174819870	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174819870G>T	ENST00000310015.6	-	4	1900	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SP3_ENST00000455789.2_Missense_Mutation_p.P404H|SP3_ENST00000418194.2_Missense_Mutation_p.P389H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	457	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTCCAGAAGGGGTCACTGT	0.433000													7	41					8.12818e-05	8.99451e-05	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38187117	38187117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38187117G>A	ENST00000317025.8	-	6	1877	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R454W|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R454W|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R454W	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	454					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTGTGTGCCGCCTCTGGCTA	0.517000			T	NUP98	AML								34	45					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227955	136227955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136227955G>T	ENST00000371964.4	+	6	752	c.711G>T	c.(709-711)aaG>aaT	p.K237N		NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	237							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CGTTGAAAAAGAAGTTCAAGA	0.478000													73	112					8.70598e-44	1.17535e-43	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2049731	2049731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2049731G>A	ENST00000563630.1	-	9	1896	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	ZNF598_ENST00000562103.1_Missense_Mutation_p.P552S|ZNF598_ENST00000431526.1_Missense_Mutation_p.P607S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	607						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGGTAGCGGGCGGGGGCTGT	0.642000													14	23					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021413	51021413	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51021413G>A	ENST00000599957.1	-	3	1754	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	LRRC4B_ENST00000389201.3_Silent_p.D519D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCAGACACCGTCTGTCGTGG	0.741000													8	6					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102912197	102912197	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102912197C>A	ENST00000359520.7	+	13	3214	c.2988C>A	c.(2986-2988)ctC>ctA	p.L996L	TECPR2_ENST00000558678.1_Silent_p.L996L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	996							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGCAGACTCTCTGGGCCCTGG	0.537000													5	67					0.0215528	0.0221649	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73829483	73829483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73829483C>T	ENST00000264448.6	+	20	12394	c.12283C>T	c.(12283-12285)Ctg>Ttg	p.L4095L	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.L4053L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4095					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGTGCCCGCTGCCCAAGAG	0.582000													6	42					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91708647	91708647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91708647G>A	ENST00000359028.2	+	32	7461	c.7236G>A	c.(7234-7236)caG>caA	p.Q2412Q	AKAP9_ENST00000358100.2_Silent_p.Q2412Q|AKAP9_ENST00000356239.3_Silent_p.Q2400Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2412	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTGGAACAGCAAGTAGAAA	0.358000			T	BRAF	papillary thyroid								52	35					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584701	1584701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1584701C>T	ENST00000381297.4	-	2	961	c.751G>A	c.(751-753)Gcc>Acc	p.A251T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGTTGGGGGCGAAGCAGGTG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""								11	27					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33099698	33099698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33099698G>A	ENST00000307363.5	-	6	760	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GLB1_ENST00000445488.2_Missense_Mutation_p.R254C|GLB1_ENST00000399402.3_Missense_Mutation_p.R176C|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	206					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGCGAAAGCGCTTCTGCAGG	0.483000													12	25					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111398963	111398963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111398963G>A	ENST00000535254.1	-	21	2711	c.2644C>T	c.(2644-2646)Ctt>Ttt	p.L882F	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Missense_Mutation_p.L902F|BUB1_ENST00000409311.1_Intron	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	902	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCATGTAAAGCATTCTCATA	0.373000													56	82					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45981480	45981480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45981480C>T	ENST00000262746.1	-	3	446		c.e3-1		PRDX1_ENST00000483583.1_Splice_Site|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACATATTTTCCTGGGGGGAAA	0.403000													26	30					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149501462	149501462	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149501462G>A	ENST00000261799.4	-	16	2794	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	775	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGTTATCGTAAGGGGCCA	0.512000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								29	57					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534196	152534196	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152534196G>A	ENST00000427231.2	-	34	3859	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	NEB_ENST00000409198.1_Silent_p.A1219A|NEB_ENST00000397345.3_Silent_p.A1219A|NEB_ENST00000603639.1_Silent_p.A1219A|NEB_ENST00000604864.1_Silent_p.A1219A|NEB_ENST00000172853.10_Silent_p.A1219A	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1219					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCATCACCGGCCTTTTTAA	0.453000													61	133					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149945940	149945940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149945940C>A	ENST00000370377.3	-	8	629	c.512G>T	c.(511-513)gGc>gTc	p.G171V	CD99L2_ENST00000355149.3_Missense_Mutation_p.G99V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.G122V|CD99L2_ENST00000437787.2_Missense_Mutation_p.G98V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	171					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCTGCCGTACCGGCC	0.557000													26	41					4.87955e-14	6.21198e-14	1	1	0
CXCR3	0	broad.mit.edu	37	X	70836749	70836749	+	Silent	SNP	C	C	T	rs148752439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70836749C>T	ENST00000373691.4	-	2	877	c.714G>A	c.(712-714)tcG>tcA	p.S238S	CXCR3_ENST00000373693.3_Silent_p.S191S	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	191					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CGTGGTGGGCCGACAGGAAGA	0.682000													8	17					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71671880	71671880	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71671880G>A	ENST00000545854.1	+	0	154				RNF121_ENST00000393713.3_Silent_p.L30L|RNF121_ENST00000530137.1_Silent_p.L30L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000361756.3_Silent_p.L62L|RNF121_ENST00000533380.1_Silent_p.L30L			Q9H920	RN121_HUMAN	ring finger protein 121							integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGCAACCTTGGTGGTGGCCC	0.542000													5	51					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408758	2408758	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2408758C>T	ENST00000381223.4	-	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I	ZBED1_ENST00000381222.2_Start_Codon_SNP_p.M1I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Start_Codon_SNP_p.M1I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	1						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTATTCTCCATTGCTTCTC	0.597000													45	75					0	0	1	0	0
REXO2	25996	broad.mit.edu	37	11	114320644	114320644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114320644G>T	ENST00000265881.5	+	7	804	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	REXO2_ENST00000539754.1_Nonsense_Mutation_p.E206*|REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.E131*|REXO2_ENST00000539275.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	221					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AAAAATAGATGAAAAGAAGAG	0.368000													42	101					3.61848e-18	4.7115e-18	1	1	0
ECE1	1889	broad.mit.edu	37	1	21585273	21585273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21585273C>A	ENST00000415912.2	-	6	752	c.627G>T	c.(625-627)caG>caT	p.Q209H	ECE1_ENST00000357071.4_Missense_Mutation_p.Q213H|ECE1_ENST00000436918.2_Missense_Mutation_p.Q225H|ECE1_ENST00000374893.6_Missense_Mutation_p.Q225H|ECE1_ENST00000264205.6_Missense_Mutation_p.Q222H	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	225					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTGACCACCTGCAGGGTGT	0.602000													5	47					0.0215528	0.0221649	1	1	0
THSD4	79875	broad.mit.edu	37	15	72063538	72063538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72063538C>T	ENST00000355327.3	+	17	3039	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	THSD4_ENST00000261862.6_Missense_Mutation_p.P969S|THSD4_ENST00000357769.4_Missense_Mutation_p.P609S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	969						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACTGTGTCCCTGAAGTTGG	0.448000													46	51					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987848	182987848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182987848G>A	ENST00000326505.3	+	2	792	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	B3GNT5_ENST00000465010.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V88I	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	88					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCTCAAGACGTCCTCCTTTT	0.443000													32	58					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109924728C>T	ENST00000218054.4	-	10	1328	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443000													20	120					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744288	81744288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81744288G>A	ENST00000555447.1	-	6	1779	c.1367C>T	c.(1366-1368)aCt>aTt	p.T456I	STON2_ENST00000267540.2_Missense_Mutation_p.T456I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	456	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAACCAGTGTCTGTCAG	0.502000													96	160					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48665519	48665519	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48665519T>G	ENST00000263274.7	-	3	526	c.107_splice	c.e3+1	p.K36_splice	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Splice_Site_p.K36_splice	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	36					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTGACATACTTTGGAGGGGG	0.478000								Nucleotide excision repair (NER)					80	128					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140244525	140244525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140244525G>A	ENST00000275884.6	-	13	2637	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	DENND2A_ENST00000492720.1_Silent_p.H740H|DENND2A_ENST00000537639.1_Silent_p.H740H|DENND2A_ENST00000496613.1_Silent_p.H740H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	740	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTCCACGTGCTCGAGCC	0.617000													7	7					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393400	232393400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393400A>G	ENST00000305141.4	-	2	465	c.332T>C	c.(331-333)cTg>cCg	p.L111P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGCCCACCAGCAGCACCAG	0.602000													28	65					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116418857	116418857	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116418857A>G	ENST00000397752.3	+	17	3568	c.3368A>G	c.(3367-3369)cAa>cGa	p.Q1123R	MET_ENST00000318493.6_Missense_Mutation_p.Q1141R|MET_ENST00000539704.1_5'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1123	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTTTCCCAATTTCTGACC	0.438000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				7	57					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327654	16327654	+	Silent	SNP	G	G	A	rs140153287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16327654G>A	ENST00000244769.4	-	8	1824	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ATXN1_ENST00000436367.1_Silent_p.S296S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	296					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGTGGCTGCCGGAGTCGGCGT	0.657000													21	24					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268914	1268914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268914C>T	ENST00000447027.1	+	31	10871	c.10813C>T	c.(10813-10815)Cgt>Tgt	p.R3605C	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3602C|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3602	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACATCCGTGCGGCCGG	0.692000													25	51					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593154	137593154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137593154G>A	ENST00000371817.3	+	4	1043	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	210	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGGCACCCGGATCCTGGAT	0.567000													6	13					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254669	30254669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30254669G>T	ENST00000359358.4	-	9	2276	c.1838C>A	c.(1837-1839)cCt>cAt	p.P613H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	613						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACACAGGCAGGGCCTGCCAA	0.463000													13	140					0.0242445	0.0249276	1	1	0
IMPDH1	3614	broad.mit.edu	37	7	128049495	128049495	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049495C>A	ENST00000338791.6	-	2	540	c.190_splice	c.e2+1	p.E64_splice	IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000419067.2_Splice_Site_p.E64_splice|IMPDH1_ENST00000378717.4_Intron	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTGGAGCCACCTGAACGGGGT	0.547000													6	194					3.59834e-05	4.01776e-05	1	1	0
KCNJ11	3767	broad.mit.edu	37	11	17409205	17409205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17409205G>T	ENST00000339994.4	-	1	1001	c.434C>A	c.(433-435)gCc>gAc	p.A145D	KCNJ11_ENST00000528731.1_Missense_Mutation_p.A58D	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	58						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GATCAGGATGGCCAGTGGGCA	0.562000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0.00024832	0.0002712	1	1	0
MYH10	4628	broad.mit.edu	37	17	8415869	8415869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8415869A>G	ENST00000360416.3	-	24	2990	c.2852T>C	c.(2851-2853)tTa>tCa	p.L951S	MYH10_ENST00000269243.4_Missense_Mutation_p.L920S|MYH10_ENST00000396239.1_Missense_Mutation_p.L941S|MYH10_ENST00000379980.4_Missense_Mutation_p.L936S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	920					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATCTCTTCTAATTCCTGCTT	0.393000													26	39					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496092	7496092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496092C>T	ENST00000250113.7	-	14	1983	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	550	Poly-Arg.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AGTGCGGCGGCGGCGGGAGCG	0.632000													5	11					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123983871	123983871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123983871G>A	ENST00000306315.5	-	4	2641	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	ZNF608_ENST00000504926.1_Missense_Mutation_p.R309W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	736						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAATGGGCCGGGCACTTTTC	0.493000													7	12					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170033068	170033068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170033068G>A	ENST00000333572.6	-	21	2717	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	WDR27_ENST00000423258.1_Missense_Mutation_p.P606L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P733L			A2RRH5	WDR27_HUMAN	WD repeat domain 27	703										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTGATGGACAGGCCGTGAGTG	0.468000													8	13					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94176487	94176487	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94176487G>T	ENST00000297273.4	+	13	2000	c.1713_splice	c.e13+1	p.Q571_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATATTCTCAGGTTTGTACAA	0.279000													6	61					5.18039e-06	5.91835e-06	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47629740	47629740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47629740G>T	ENST00000254480.5	-	28	3396	c.3277C>A	c.(3277-3279)Ccg>Acg	p.P1093T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1093	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCAGGAGGCGGAGGGACCCCA	0.597000													15	25					2.31682e-05	2.60394e-05	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184688655	184688655	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184688655A>G	ENST00000318130.8	-	10	1265	c.999T>C	c.(997-999)ctT>ctC	p.L333L	EDEM3_ENST00000367512.3_Silent_p.L290L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	333					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCACATCAAGTAGAAGAG	0.408000													35	27					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89579416	89579416	+	Missense_Mutation	SNP	C	C	T	rs149474131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89579416C>T	ENST00000268704.2	+	3	362	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPG7_ENST00000341316.2_Missense_Mutation_p.S116L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	116					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		aaggataagtcgaaggggaag	0.393000													8	30					0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872424	35872424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35872424G>A	ENST00000487847.1	+	2	1028	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	DUSP14_ENST00000394389.4_Missense_Mutation_p.R17Q|DUSP14_ENST00000394386.1_Missense_Mutation_p.R17Q			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ATGGCCCCTCGGATGATTTCC	0.567000													3	32					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496579	128496579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128496579G>T	ENST00000325888.8	+	44	7520	c.7259G>T	c.(7258-7260)gGg>gTg	p.G2420V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2387V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2420	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGGGCTCAAGGTG	0.657000													21	94					9.57634e-11	1.18454e-10	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117718715	117718715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117718715C>T	ENST00000276204.6	+	15	1687	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	DOCK11_ENST00000276202.7_Missense_Mutation_p.T538I|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	538					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGATACTCAAGGCTCT	0.338000													37	52					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362997	133362997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133362997G>A	ENST00000260810.5	-	11	1846	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	572	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TATGATGTTTGCGATGTTAGA	0.403000								Other conserved DNA damage response genes					13	26					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104752553	104752553	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104752553T>G	ENST00000334877.4	+	26	4758	c.4224T>G	c.(4222-4224)ccT>ccG	p.P1408P	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Silent_p.P1450P|KMT2E_ENST00000257745.4_Silent_p.P1450P|KMT2E_ENST00000334914.7_Silent_p.P505P					lysine (K)-specific methyltransferase 2E																		TAGAAAATCCTCCAAAGTCAT	0.478000													5	107					0	0	1	0	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112899576	112899576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899576G>A	ENST00000374530.3	+	8	1932	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	PALM2-AKAP2_ENST00000302798.7_Silent_p.K584K|AKAP2_ENST00000259318.7_Silent_p.K353K|AKAP2_ENST00000510514.5_Silent_p.K584K|AKAP2_ENST00000434623.2_Silent_p.K442K|AKAP2_ENST00000374525.1_Silent_p.K442K|AKAP2_ENST00000555236.1_Silent_p.K584K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		353							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTCCATCAAGCCTTTCTACA	0.542000													16	31					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14877859	14877859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14877859G>T	ENST00000315576.3	-	6	869	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	EMR2_ENST00000392967.2_Missense_Mutation_p.L140I|EMR2_ENST00000346057.1_Missense_Mutation_p.L140I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L140I|EMR2_ENST00000594294.1_Missense_Mutation_p.L140I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.L140I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L140I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	140	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TAGCTGCCGAGGGTGTTGACG	0.582000													6	24					0.000157383	0.00017284	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76554290	76554290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76554290T>C	ENST00000389840.5	-	14	2202	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	DNAH17_ENST00000585328.1_Missense_Mutation_p.Q693R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATCTCTTTCTGTTGCTGGAA	0.453000													13	11					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460049	141460049	+	Missense_Mutation	SNP	C	C	T	rs144546789	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460049C>T	ENST00000389484.3	-	38	7068	c.6097G>A	c.(6097-6099)Gtc>Atc	p.V2033I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2033					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACAAGGACAACCTTCTCT	0.428000										TSP Lung(27;0.18)			22	41					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209545	50209545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209545G>A	ENST00000392518.4	+	12	1590	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	CPT1C_ENST00000323446.5_Silent_p.E406E|CPT1C_ENST00000598293.1_Silent_p.E406E|CPT1C_ENST00000405931.2_Silent_p.E395E|CPT1C_ENST00000354199.5_Silent_p.E406E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	406					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCCCTGGAGGCGGTGGAAG	0.697000													3	11					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165904	41165904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41165904G>A	ENST00000483722.1	-	2	504	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	107	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTGTTGCGCATGCACCAG	0.627000													18	38					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109777	101109777	+	Missense_Mutation	SNP	C	C	A	rs150317593		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101109777C>A	ENST00000314742.8	-	7	2162	c.1940G>T	c.(1939-1941)aGt>aTt	p.S647I		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	647										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGTCTGTTTACTGTTAGCTAA	0.478000													6	101					0.00116845	0.00124821	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402555C>T	ENST00000570156.2	+	5	1658	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_ENST00000284548.11_Silent_p.S528S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S528S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592000													6	19					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999559	99999559	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99999559C>A	ENST00000398027.2	-	17	1824	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	526							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTTCCCATTCTGGGTGCAGG	0.542000													5	167					1	1	1	1	0
MAF1	84232	broad.mit.edu	37	8	145161325	145161325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145161325C>T	ENST00000534585.1	+	5	849	c.458C>T	c.(457-459)gCg>gTg	p.A153V	MAF1_ENST00000532522.1_Missense_Mutation_p.A153V|MAF1_ENST00000322428.5_Missense_Mutation_p.A153V			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGGAACGCGGTGGACGAG	0.592000													10	21					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814399	2814399	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814399G>T	ENST00000301740.8	+	11	4419	c.3870G>T	c.(3868-3870)caG>caT	p.Q1290H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1290	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGTCACAGGCTTCTTTGG	0.453000													21	190					2.89027e-11	3.59474e-11	1	1	0
ZNF81	347344	broad.mit.edu	37	X	47775287	47775287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47775287C>T	ENST00000376954.1	+	6	1610	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	ZNF81_ENST00000338637.7_Silent_p.H414H			P51508	ZNF81_HUMAN	zinc finger protein 81	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGAGACATCACAAATGCAGTG	0.423000													4	45					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122953822	122953822	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122953822T>C	ENST00000448775.2	-	5	990	c.650A>G	c.(649-651)gAa>gGa	p.E217G	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	217	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CACACAGCTTTCCTTCCCAGC	0.443000													54	77					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73058900	73058900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73058900C>T	ENST00000335350.6	+	17	3120	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P891S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	902	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAAAGCGAGCCCCACGGGTGT	0.607000													7	168					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472629	76472629	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76472629T>C	ENST00000396423.2	+	9	1268	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	HNF4G_ENST00000354370.1_Missense_Mutation_p.S345P	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	345					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCACATTTGTCTCAAGACCC	0.393000													5	53					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	C	A	rs148357558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10933894C>A	ENST00000298232.7	-	16	1298	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	TPTE_ENST00000342420.5_Missense_Mutation_p.D291Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D329Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAAGATCTTGAGCCATC	0.318000													63	329					6.72169e-28	8.9774e-28	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24439447	24439447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24439447G>A	ENST00000398319.2	+	6	812	c.427G>A	c.(427-429)Gct>Act	p.A143T	CABIN1_ENST00000405822.2_Missense_Mutation_p.A143T|CABIN1_ENST00000263119.5_Missense_Mutation_p.A143T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	143					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCCCCTGGCTCGCCATGC	0.542000													17	27					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487642	139487642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139487642A>G	ENST00000367658.2	+	2	778	c.493A>G	c.(493-495)Aca>Gca	p.T165A	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	165					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACATGTGGACAAAGAAGGG	0.592000													34	49					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067917	49067917	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067917G>T	ENST00000262013.7	-	20	2719	c.2511C>A	c.(2509-2511)agC>agA	p.S837R	SPAG9_ENST00000505279.1_Missense_Mutation_p.S827R|SPAG9_ENST00000510283.1_Missense_Mutation_p.S680R|SPAG9_ENST00000357122.4_Missense_Mutation_p.S823R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	837					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTAACAGGCTGTCTGTCT	0.488000													29	33					1.5548e-18	2.02858e-18	1	1	0
GPN1	11321	broad.mit.edu	37	2	27861839	27861839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861839G>A	ENST00000264718.3	+	9	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.V125I|GPN1_ENST00000515877.1_Missense_Mutation_p.V141I|GPN1_ENST00000424214.1_Missense_Mutation_p.V141I|GPN1_ENST00000503738.1_Missense_Mutation_p.V125I|GPN1_ENST00000407583.3_Missense_Mutation_p.V208I	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	220						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GACTACATACGTCAGTAACCT	0.458000													33	37					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105160228	105160228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105160228C>T	ENST00000369797.3	+	3	271	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	59					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAAAATCGAAAAGAGAG	0.418000													28	59					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164453	12164453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12164453C>T	ENST00000379388.2	+	9	8248	c.7916C>T	c.(7915-7917)gCc>gTc	p.A2639V	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A504V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2639					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAAGGCTGCCTCGGCAAAT	0.517000													8	19					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844172	32844172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844172C>T	ENST00000311921.3	+	2	628	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q146*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q146*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCATATTAAGCAACATGGTCA	0.418000													19	30					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785540	130785540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785540C>A	ENST00000265909.4	-	1	864	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	SNX19_ENST00000533214.1_Nonsense_Mutation_p.E99*|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	99	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATCTCCCGTTCCAGCTGCCTT	0.557000													4	52					3.59834e-05	4.01776e-05	1	1	0
FSCN1	6624	broad.mit.edu	37	7	5645040	5645040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5645040G>A	ENST00000382361.3	+	5	1531	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	FSCN1_ENST00000340250.6_Missense_Mutation_p.D452N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	473					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCTGAAGGGCGACCACGCAGG	0.667000													16	9					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875447	75875447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75875447G>A	ENST00000322507.8	-	14	3068	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L|COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	920	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S920L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378000													15	73					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107722882C>T	ENST00000445937.1	+	10	1918	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R554*|OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358000													6	49					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93821949	93821949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93821949G>A	ENST00000315765.9	+	12	2117	c.2109G>A	c.(2107-2109)atG>atA	p.M703I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	703	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGCCACCATGCCCCACCTCT	0.483000													10	24					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071955	100071955	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100071955A>C	ENST00000300181.2	-	3	1625	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.F52V	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	291					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGCTGAACTTCTGAGCT	0.597000													52	39					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626433	66626433	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626433G>T	ENST00000309602.4	+	1	1461	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	406						integral to membrane				breast(1)|lung(1)|prostate(1)	3						TGGAGTCTGAGCCAGCCGTGC	0.701000													4	36					0.014758	0.0152625	1	1	0
LATS1	9113	broad.mit.edu	37	6	150005294	150005294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150005294T>C	ENST00000543571.1	-	4	1478	c.931A>G	c.(931-933)Aat>Gat	p.N311D	LATS1_ENST00000253339.5_Missense_Mutation_p.N311D|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.N311D	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	311					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAGGAGGATTCATGGGGGAA	0.483000													9	111					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17836527	17836527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17836527G>T	ENST00000409389.1	-	25	2754	c.2582C>A	c.(2581-2583)gCt>gAt	p.A861D	SNX13_ENST00000428135.3_Missense_Mutation_p.A850D|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	861					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCATGGAACAGCCTCTGCTAA	0.323000													9	126					3.86212e-05	4.30401e-05	1	1	0
RNF10	9921	broad.mit.edu	37	12	120995185	120995185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995185T>C	ENST00000325954.4	+	5	1207	c.746T>C	c.(745-747)aTc>aCc	p.I249T	RNF10_ENST00000413266.2_Missense_Mutation_p.I249T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	249					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGCATGCATCCTGCACTAT	0.468000													9	125					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768173	45768173	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45768173C>A	ENST00000357450.4	-	13	2058		c.e13-1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAACCCTAAAAGGAAA	0.318000													21	17					1.40151e-16	1.80976e-16	1	1	0
PALB2	79728	broad.mit.edu	37	16	23646985	23646985	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646985T>A	ENST00000261584.4	-	4	1034	c.882A>T	c.(880-882)aaA>aaT	p.K294N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	294	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGTCATTTTTTTGCCTTGTG	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					9	119					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605020	179605020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179605020C>T	ENST00000589042.1	-	48	13164	c.12940G>A	c.(12940-12942)Gca>Aca	p.A4314T	TTN_ENST00000460472.2_Missense_Mutation_p.A3951T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.A4076T|TTN_ENST00000342175.6_Missense_Mutation_p.A4143T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A3997T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3997	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCCCTGCATTTTCCAGT	0.433000													44	46					0	0	1	0	0
RP4-651E10.4	0	broad.mit.edu	37	1	87101749	87101749	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87101749C>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							CTCCAAACTTCTTGTTGACTA	0.358000													46	107					2.65591e-33	3.56669e-33	1	1	0
FBXO40	51725	broad.mit.edu	37	3	121341567	121341567	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121341567T>A	ENST00000338040.4	+	3	1705	c.1291T>A	c.(1291-1293)Tac>Aac	p.Y431N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	431					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACACAAACATACAACTTTGA	0.527000													51	64					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681276	40681276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681276C>T	ENST00000302472.3	+	2	1205	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	61					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTATGTGGGCTGGCTGTCAC	0.622000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	63					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38902182	38902182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38902182A>G	ENST00000310301.4	-	4	263	c.209T>C	c.(208-210)cTt>cCt	p.L70P	VPS41_ENST00000395969.2_Missense_Mutation_p.L70P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	70					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTGGACATCAAGTAAATAAAC	0.308000													8	74					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048278	2048278	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2048278G>A	ENST00000563630.1	-	12	2747	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	ZNF598_ENST00000562103.1_Silent_p.D835D|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.D890D			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAAGTCGTCGTCCCGGGCAG	0.687000													30	120					0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68490518	68490518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68490518G>A	ENST00000283006.2	+	3	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CENPH_ENST00000515001.1_Missense_Mutation_p.E79K	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	79					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAGCAAATCGAAGCGTATGT	0.279000													16	23					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608259	608259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608259C>T	ENST00000264555.5	+	14	2931	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	PHRF1_ENST00000416188.2_Missense_Mutation_p.P934S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P931S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P933S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	935							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGGCCATCCCCCCC	0.682000													10	12					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121033015	121033015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121033015C>A	ENST00000392793.1	+	16	5479	c.5208C>A	c.(5206-5208)gcC>gcA	p.A1736A	TECTA_ENST00000264037.2_Silent_p.A1736A			O75443	TECTA_HUMAN	tectorin alpha	1736					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGGCCGCCTACGGGGAGG	0.537000													6	26					0.0293803	0.0301098	1	1	0
SACS	26278	broad.mit.edu	37	13	23906959	23906959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23906959G>A	ENST00000382298.3	-	10	11644	c.11056C>T	c.(11056-11058)Cag>Tag	p.Q3686*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3686*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q2936*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3686					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATTTACCTGTGCTCCATTG	0.413000													25	53					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380627	30380627	+	Splice_Site	SNP	G	G	A	rs149192196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380627G>A	ENST00000493196.1	-	3	396	c.294_splice	c.e3-1	p.A99_splice	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	99	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AGAAAACATCGCCTGATTAAA	0.398000													40	35					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460361	70460361	+	Missense_Mutation	SNP	C	C	T	rs148464836	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70460361C>T	ENST00000503640.1	-	5	1193	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	UGT2A2_ENST00000457664.2_Missense_Mutation_p.E389K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E380K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E546K|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E336K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	380					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAATAGCTTCGTAGATCCCA	0.443000													16	22					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76989898	76989898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76989898G>A	ENST00000302345.2	-	4	1434	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	CANT1_ENST00000392446.5_Missense_Mutation_p.R314C|CANT1_ENST00000591773.1_Missense_Mutation_p.R314C	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	314					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCCCTTGCGCTCGTCGTCC	0.672000			T	ETV4	prostate								12	11					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716011	153716011	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153716011C>T	ENST00000263512.4	-	2	1767	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	SLC10A3_ENST00000393586.1_Silent_p.V478V|SLC10A3_ENST00000369649.4_Silent_p.V394V|SLC10A3_ENST00000393587.4_Silent_p.V423V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	423					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGTTCTGCACCCCTACCT	0.647000													4	32					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581121	24581121	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24581121C>A	ENST00000319715.4	+	17	3542	c.3110C>A	c.(3109-3111)cCt>cAt	p.P1037H	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1003H|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1037	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTGTAAAACCTGCTAAAGGA	0.403000													41	46					3.76604e-16	4.85093e-16	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65218321	65218321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65218321G>A	ENST00000380230.3	+	5	452	c.423G>A	c.(421-423)gcG>gcA	p.A141A	ANKDD1A_ENST00000395723.1_Silent_p.A50A|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Silent_p.A141A|ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000496660.1_Silent_p.A50A|ANKDD1A_ENST00000395720.1_Silent_p.A141A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	141					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGTGCTGGCGTTCATAATGG	0.592000													9	9					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863628	72863628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863628G>T	ENST00000261180.4	+	4	1367	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	424					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGATCCCAGTGTTTCATCT	0.383000													7	69					5.18039e-06	5.91835e-06	1	1	0
JMJD6	23210	broad.mit.edu	37	17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74714828G>A	ENST00000445478.2	-	6	1398	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	JMJD6_ENST00000585429.1_Silent_p.S352S|JMJD6_ENST00000397625.4_Missense_Mutation_p.R399C	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	399					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GAGGAGCTGCGCTCTTTGCTG	0.642000													20	28					0	0	1	0	0
PBK	55872	broad.mit.edu	37	8	27680707	27680707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27680707C>T	ENST00000301905.4	-	4	631	c.168G>A	c.(166-168)ttG>ttA	p.L56L	PBK_ENST00000522944.1_Silent_p.L56L	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	56	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAATGAGACAAACCTCTTG	0.289000													6	33					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27117541	27117541	+	Missense_Mutation	SNP	C	C	T	rs140080802	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27117541C>T	ENST00000354828.3	+	3	625	c.98C>T	c.(97-99)gCg>gTg	p.A33V	GABPA_ENST00000400075.3_Missense_Mutation_p.A33V|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	33					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAACCTACGCGCCAGCTGAA	0.373000													19	51					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141551349	141551349	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141551349G>T	ENST00000220592.5	-	15	2060	c.1948C>A	c.(1948-1950)Ctc>Atc	p.L650I	AGO2_ENST00000519980.1_Missense_Mutation_p.L650I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AACTGGATGAGGAGCTCGCGG	0.632000													4	9					0.00024832	0.0002712	1	1	0
SALL2	6297	broad.mit.edu	37	14	21991466	21991466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21991466C>T	ENST00000327430.3	-	2	2690	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	SALL2_ENST00000450879.2_Missense_Mutation_p.R662K|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	799							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAATCACCTCTCACTGATAT	0.537000													11	24					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27217689	27217689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27217689C>A	ENST00000361720.5	-	7	1413	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	464						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGTTGCCCAAATGGCTGT	0.557000													5	16					0.00116845	0.00124821	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166737287	166737287	+	Missense_Mutation	SNP	T	T	C	rs144130537	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166737287T>C	ENST00000243344.7	-	27	3844	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	TTC21B_ENST00000536175.1_Missense_Mutation_p.Y174C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1236						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTATCCCATATATTCATAAGC	0.368000													13	31					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47580272	47580272	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47580272G>T	ENST00000359314.5	+	17	2334	c.1878_splice	c.e17+1	p.E626_splice		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	626					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTAATCTAGAGGTAATTAATT	0.348000													10	12					1.08611e-07	1.2824e-07	1	1	0
DRG1	4733	broad.mit.edu	37	22	31796681	31796681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31796681C>T	ENST00000331457.4	+	2	279	c.118C>T	c.(118-120)Cga>Tga	p.R40*	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	40					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGCTTCGTCGAGAACTCAT	0.433000													4	50					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20643893	20643893	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20643893G>T	ENST00000428453.1	-	0	3566																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCATGTCAGAGAACTGCACGG	0.502000													16	15					0.00152264	0.00162519	1	1	0
ABCA3	21	broad.mit.edu	37	16	2369724	2369724	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369724C>A	ENST00000301732.5	-	8	1431	c.731G>T	c.(730-732)aGg>aTg	p.R244M	ABCA3_ENST00000382381.3_Missense_Mutation_p.R244M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	244					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTACGGGAACCTCTTGATGGT	0.632000													4	61					1.23904e-05	1.39987e-05	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141619580	141619580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141619580G>A	ENST00000548136.1	+	1	964	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GAGGCCCTTCGGGATGGGGTG	0.423000													7	71					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	989970	989970	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:989970T>G	ENST00000537687.1	+	12	4339	c.3696T>G	c.(3694-3696)caT>caG	p.H1232Q	WNK1_ENST00000315939.6_Missense_Mutation_p.H972Q|WNK1_ENST00000340908.4_Missense_Mutation_p.H565Q|WNK1_ENST00000530271.2_Missense_Mutation_p.H1470Q|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	972					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTGCATCCATTCTACAGTCC	0.502000													7	321					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198508985	198508985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198508985G>A	ENST00000295049.3	-	3	871	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	112						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453000													17	38					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399784	10399784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10399784A>C	ENST00000226207.5	-	34	4833	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1580						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1580T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTTCAGCAATTTTCCTATC	0.448000													17	131					0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41249867	41249867	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41249867A>C	ENST00000378313.2	-	5	780	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	C19orf54_ENST00000598485.2_Missense_Mutation_p.F49V|C19orf54_ENST00000598729.1_Missense_Mutation_p.F49V|C19orf54_ENST00000339153.3_Missense_Mutation_p.F49V|C19orf54_ENST00000470681.1_Silent_p.T41T	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	221										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGGTTGAAGTCCTCGTCG	0.622000													25	50					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982697	75982697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75982697C>T	ENST00000308508.5	-	3	801	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	237	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCAAGGGTGCCTGCCGGCTC	0.642000													10	27					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287388	11287388	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11287388G>A	ENST00000432929.2	-	7	2010	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	KANK2_ENST00000589894.1_Silent_p.A542A|KANK2_ENST00000589359.1_Silent_p.A550A|KANK2_ENST00000586659.1_Silent_p.A542A|KANK2_ENST00000355150.5_Silent_p.A542A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGGGCTTCGGCCACACTCG	0.627000													26	67					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56675539	56675539	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56675539G>A	ENST00000431842.2	-	8	2193	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	FAM208A_ENST00000493960.2_Silent_p.T819T|FAM208A_ENST00000355628.5_Silent_p.T819T	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	819										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTTATCTGGGGTAGAGTTCA	0.408000													14	40					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978290	10978290	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978290A>G	ENST00000240619.2	-	1	667	c.579T>C	c.(577-579)tgT>tgC	p.C193C		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	193					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTAAAAAAATACATGTAATTA	0.363000													10	108					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295380	133295380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133295380C>T	ENST00000231512.3	-	2	673	c.471G>A	c.(469-471)acG>acA	p.T157T	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	157						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTGGGGCCCGTGGTCCAGT	0.478000													5	53					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297985	12297985	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12297985G>A	ENST00000343979.4	+	4	932	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTCATTCTCTGAGTTCATTTC	0.393000													28	57					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122653	20122653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20122653C>T	ENST00000396085.1	+	33	6722	c.6361C>T	c.(6361-6363)Cga>Tga	p.R2121*	NAV2_ENST00000396087.3_Nonsense_Mutation_p.R2177*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.R2108*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.R1182*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.R2106*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.R2054*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.R2118*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.R1182*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2177						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TATAGTGCTTCGAGAGGGACG	0.542000													36	50					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504771	56504771	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56504771C>A	ENST00000303305.6	+	10	1285	c.866C>A	c.(865-867)gCt>gAt	p.A289D	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	289					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAGAAGAAGGCTCGGATGGGT	0.423000													6	20					0.0215528	0.0221649	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95724085	95724085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95724085A>G	ENST00000376887.4	-	25	3155	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.I967T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1014					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTGTATTCAATGACCCTTTC	0.433000													22	49					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605352	45605352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605352G>A	ENST00000267430.5	+	1	203	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	FANCM_ENST00000556036.1_Missense_Mutation_p.A40T|FANCM_ENST00000542564.2_Missense_Mutation_p.A40T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGCTCCAAGGCGCCTTTGCC	0.602000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	25					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230672573	230672573	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230672573T>C	ENST00000283943.5	-	16	2381	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	TRIP12_ENST00000389045.3_Missense_Mutation_p.M438V|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.M783V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACATGGCATAAGTTCACTG	0.343000													6	16					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42730536	42730536	+	Missense_Mutation	SNP	G	G	A	rs143303371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42730536G>A	ENST00000301215.3	+	3	2206	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAAGCAGGCGGGCTCTTGCA	0.602000													33	92					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9900466	9900466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900466C>T	ENST00000380913.3	+	6	3233	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAGACTCGTGGCCAGTG	0.647000													3	14					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132618927	132618927	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132618927G>A	ENST00000367963.3	-	11	1794	c.1677_splice	c.e11+1	p.S559_splice	MOXD1_ENST00000336749.3_Splice_Site_p.S491_splice	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	559					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418000													29	44					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737055	46737055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46737055G>A	ENST00000396533.1	-	4	405	c.155C>T	c.(154-156)gCt>gTt	p.A52V	COX7B2_ENST00000302930.5_Missense_Mutation_p.A52V|COX7B2_ENST00000543208.1_Missense_Mutation_p.A51V|COX7B2_ENST00000355591.3_Missense_Mutation_p.A52V			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	52						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CACCCATGTAGCAACACAGAA	0.438000													36	57					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026580	61026580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61026580G>A	ENST00000335613.5	-	20	2821	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	VWCE_ENST00000535710.1_Missense_Mutation_p.T277I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	812						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTAGGTAAAGTCTGTGTTTT	0.582000													13	20					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48921961	48921961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48921961G>A	ENST00000376396.3	+	6	604	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	CCDC120_ENST00000422185.2_Missense_Mutation_p.A129T|CCDC120_ENST00000603986.1_Missense_Mutation_p.A164T|CCDC120_ENST00000597275.1_Missense_Mutation_p.A129T|CCDC120_ENST00000536628.2_Missense_Mutation_p.A117T|CCDC120_ENST00000496529.2_Missense_Mutation_p.A129T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	129							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGCGGCGGCCGCCCGCCGCCT	0.667000													5	2					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33054010	33054010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33054010G>A	ENST00000418931.2	+	5	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	258					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ACGAGGATCTGCATAAACAGG	0.418000													5	67					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135310033	135310033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135310033G>A	ENST00000285968.6	+	32	4627	c.4601G>A	c.(4600-4602)cGt>cAt	p.R1534H		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1534					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGATGACCGTACTTTGCAG	0.413000													101	80					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77795519	77795519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77795519G>T	ENST00000393734.1	+	7	768	c.231G>T	c.(229-231)caG>caT	p.Q77H	GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000556627.1_Missense_Mutation_p.Q105H|GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	132	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582000													14	42					1.15088e-07	1.35723e-07	1	1	0
CDHR3	222256	broad.mit.edu	37	7	105664969	105664969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105664969G>T	ENST00000542731.1	+	15	2327	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	CDHR3_ENST00000478080.1_Missense_Mutation_p.R652I|CDHR3_ENST00000317716.9_Missense_Mutation_p.R740I|CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242H|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCCATCCACAGACACTGCCCC	0.547000													12	40					0.00136819	0.00146042	1	1	0
OTUD6B	51633	broad.mit.edu	37	8	92090721	92090721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92090721G>A	ENST00000285420.4	+	4	642	c.543G>A	c.(541-543)caG>caA	p.Q181Q	OTUD6B_ENST00000404789.3_Silent_p.Q50Q	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAATTAAACAGATTCCATCTG	0.408000													3	4					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216892	111216892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111216892G>A	ENST00000369769.2	-	1	763	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	180						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCTCGGAGAAAATGTCGA	0.657000													6	119					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19167744	19167744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19167744C>T	ENST00000446113.2	+	3	311	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZDHHC13_ENST00000399351.3_5'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	64					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTTTTGAACGATGTAAAGA	0.313000													6	9					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146278270	146278270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146278270G>A	ENST00000331434.6	+	2	419	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	102										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GTTCCCCTAAGCGCTGAGGCC	0.582000													5	15					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792766	124792766	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124792766T>C	ENST00000334705.7	+	8	933	c.687T>C	c.(685-687)gaT>gaC	p.D229D	FAM91A1_ENST00000521166.1_Silent_p.D229D	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	229										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATATCTGATGACAGTTGTA	0.348000													3	32					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15942969	15942969	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942969C>A	ENST00000268712.3	-	44	6991		c.e44-1		NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395857.3_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAACTGAGCCTGAAAGAGAA	0.448000													4	26					2.56e-06	2.9446e-06	1	1	0
ANK2	287	broad.mit.edu	37	4	114158192	114158192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114158192C>T	ENST00000357077.4	+	6	586	c.533C>T	c.(532-534)gCg>gTg	p.A178V	ANK2_ENST00000264366.6_Missense_Mutation_p.A178V|ANK2_ENST00000394537.3_Missense_Mutation_p.A178V|ANK2_ENST00000506722.1_Missense_Mutation_p.A157V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.A178E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAACCAGGCGGTGGCCATC	0.498000													36	73					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557907	83557907	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83557907T>C	ENST00000319540.4	-	4	958	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACAGACTCTCTCCCCAGATGT	0.527000													6	27					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554644	123554644	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123554644T>A	ENST00000422452.2	-	25	4562	c.4499A>T	c.(4498-4500)aAg>aTg	p.K1500M	TENM1_ENST00000371130.3_Missense_Mutation_p.K1493M|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGCTTTCATCTTTGCATCTTT	0.458000													10	96					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44104939	44104939	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44104939T>C	ENST00000272286.2	+	13	1999	c.1909T>C	c.(1909-1911)Tcg>Ccg	p.S637P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	637	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGCTGGACTCGTACCCTCT	0.522000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	36					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622000													41	68					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583670	7583670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583670A>C	ENST00000379802.3	+	24	6516	c.6175A>C	c.(6175-6177)Att>Ctt	p.I2059L	DSP_ENST00000418664.2_Missense_Mutation_p.I1460L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2059	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGTGGTATAATTGATCCCCA	0.473000													9	81					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232492	81232492	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232492T>C	ENST00000599697.1	-	7	1317	c.1318A>G	c.(1318-1320)Aga>Gga	p.R440G	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	440	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAATGTTTCTGGAGATTGTA	0.557000													25	145					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71956439	71956439	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71956439G>T	ENST00000378799.6	+	7	971	c.615G>T	c.(613-615)aaG>aaT	p.K205N	IST1_ENST00000535424.1_Missense_Mutation_p.K218N|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000544564.1_Missense_Mutation_p.K205N|IST1_ENST00000329908.8_Missense_Mutation_p.K205N|IST1_ENST00000606369.1_Missense_Mutation_p.K57N|IST1_ENST00000538850.1_Missense_Mutation_p.K57N|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.K205N|IST1_ENST00000378798.5_Missense_Mutation_p.K205N	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	205	Interaction with VPS37B.|Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										ATGATGTGAAGAAAGGAGGCC	0.517000													44	95					3.88204e-17	5.02929e-17	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10699521	10699521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10699521C>T	ENST00000377022.3	-	21	5075	c.4758G>A	c.(4756-4758)tcG>tcA	p.S1586S	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGTCCATCTGCGACATGCCCA	0.701000													4	1					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36814358	36814358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36814358C>T	ENST00000359297.2	-	6	689	c.682G>A	c.(682-684)Gac>Aac	p.D228N	STK40_ENST00000373132.3_Missense_Mutation_p.D228N|STK40_ENST00000373129.3_Missense_Mutation_p.D228N|STK40_ENST00000373130.3_Missense_Mutation_p.D233N			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	228	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTCAGCAGGTCCCCCTCGCTC	0.557000													3	11					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276322	100276322	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100276322C>T	ENST00000303210.4	+	10	1403	c.921C>T	c.(919-921)gtC>gtT	p.V307V	GNB2_ENST00000424361.1_Silent_p.V263V|GNB2_ENST00000419828.1_Silent_p.V207V|GNB2_ENST00000393924.1_Silent_p.V307V|GNB2_ENST00000427895.1_Silent_p.V207V|GNB2_ENST00000393926.1_Silent_p.V307V|GNB2_ENST00000436220.1_Silent_p.V263V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	307					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCACAGGAGTCCTCGCTGGCC	0.647000													45	39					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399560	228399560	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228399560G>T	ENST00000310078.7	+	8	1284		c.e8-1		AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409979.2_Splice_Site|AGFG1_ENST00000409171.1_Splice_Site|AGFG1_ENST00000409315.1_Intron	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCGTTCCCAGGTGGTGATCA	0.408000													10	53					3.86212e-05	4.30401e-05	1	1	0
TSEN34	79042	broad.mit.edu	37	19	54695428	54695428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54695428C>A	ENST00000396383.1	+	2	524	c.213C>A	c.(211-213)gcC>gcA	p.A71A	TSEN34_ENST00000429671.2_Silent_p.A71A|TSEN34_ENST00000302937.4_Silent_p.A71A|TSEN34_ENST00000396388.2_Silent_p.A71A			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	71					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCAGCGCCCCGCGTCCAG	0.701000													14	23					3.27435e-08	3.90559e-08	1	1	0
ALK	238	broad.mit.edu	37	2	29754876	29754876	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29754876C>T	ENST00000389048.3	-	4	1965	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	353	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCAGGTGCCTGTGCACCG	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	39					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432086	4432086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4432086C>A	ENST00000301280.5	+	12	2186	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	695	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACAGAGACTGCGCAGGCG	0.637000								Chromatin Structure					5	50					0.184627	0.186383	1	1	0
FLNB	2317	broad.mit.edu	37	3	58097997	58097997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58097997C>T	ENST00000357272.4	+	18	2862	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	FLNB_ENST00000429972.2_Silent_p.I899I|FLNB_ENST00000358537.3_Silent_p.I899I|FLNB_ENST00000490882.1_Silent_p.I899I|FLNB_ENST00000419752.2_Silent_p.I730I|FLNB_ENST00000348383.5_Silent_p.I899I|FLNB_ENST00000295956.4_Silent_p.I899I|FLNB_ENST00000493452.1_Silent_p.I730I			O75369	FLNB_HUMAN	filamin B, beta	899					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATATCATCGATAATTATG	0.547000													34	57					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64687687	64687687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64687687C>A	ENST00000261884.3	+	3	422	c.362C>A	c.(361-363)cCt>cAt	p.P121H	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	121					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTACTGAACCTGACACGACT	0.413000													16	101					2.35188e-11	2.93101e-11	1	1	0
GPR179	440435	broad.mit.edu	37	17	36493548	36493548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36493548C>T	ENST00000342292.4	-	3	979	c.959G>A	c.(958-960)cGa>cAa	p.R320Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAATCCAGGTCGGCAGCGGCA	0.557000													14	19					0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57888834	57888834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888834G>T	ENST00000282282.3	+	4	640	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAAGCCTTTAGCCA	0.428000													3	29					6.4e-05	7.11719e-05	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677000													15	31					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808613	77808613	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808613C>T	ENST00000269397.4	-	5	1005	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	276	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGATCTTCACCGCCTGCATGC	0.592000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	95					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825600	4825600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4825600G>A	ENST00000380382.1	-	1	247	c.248C>T	c.(247-249)gCt>gTt	p.A83V	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A4V|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCCTGAAGCCAGCACCAT	0.468000													39	49					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416035	178416035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178416035G>A	ENST00000231188.5	-	6	1433	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.H419Y	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	419					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGCCTGGTGCATGCTGTGG	0.627000													6	12					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100668321	100668321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100668321G>A	ENST00000316594.5	+	2	1423	c.1345G>A	c.(1345-1347)Gct>Act	p.A449T		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	449					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GTCAAACCTTGCTTAGGTAGA	0.428000													15	182					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64081741	64081741	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64081741G>A	ENST00000405666.1	+	4	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ESRRA_ENST00000000442.6_Missense_Mutation_p.R158Q|ESRRA_ENST00000406310.1_Missense_Mutation_p.R158Q			P11474	ERR1_HUMAN	estrogen-related receptor alpha	158					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGGGTGGGCGGCAGAAGTAC	0.682000													12	8					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4027578	4027578	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4027578G>A	ENST00000294016.3	-	9	3271	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	911					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGCAGAAGTTACAGTAGT	0.662000													8	8					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47614279	47614279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47614279C>T	ENST00000383738.2	-	3	3377	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	CSPG5_ENST00000456150.1_Missense_Mutation_p.G289S|CSPG5_ENST00000264723.4_Missense_Mutation_p.G427S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	427					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGCCGAGCCCACGGCCACG	0.582000													16	27					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280785	46280785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46280785G>A	ENST00000600757.1	-	7	1663	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	DMPK_ENST00000354227.5_Missense_Mutation_p.R316W|DMPK_ENST00000291270.4_Missense_Mutation_p.R316W|DMPK_ENST00000447742.2_Missense_Mutation_p.R316W|DMPK_ENST00000458663.2_Missense_Mutation_p.R316W|DMPK_ENST00000343373.4_Missense_Mutation_p.R326W			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	326	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACAGCAACCGCTGAATGAAG	0.652000													27	30					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955239	54955239	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54955239C>T	ENST00000173898.7	+	12	2194	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G297G|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G225G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	694					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGAGTTAGGCGATGATGCTC	0.517000													8	13					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10023883	10023883	+	Missense_Mutation	SNP	C	C	A	rs6118865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10023883C>A	ENST00000378380.3	+	3	789	c.460C>A	c.(460-462)Ctt>Att	p.L154I	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.L154I|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GCCAATATTCCTTAGAGCTTG	0.418000													11	94					3.86212e-05	4.30401e-05	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347805	38347805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38347805C>A	ENST00000273173.4	+	1	379	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SLC22A14_ENST00000448498.1_Silent_p.P96P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	96						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCAGAAGCCCTATTGCAATA	0.547000													7	70					0.248553	0.25002	1	1	0
FBXO38	81545	broad.mit.edu	37	5	147820753	147820753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147820753C>T	ENST00000340253.5	+	21	3509	c.3341C>T	c.(3340-3342)gCa>gTa	p.A1114V	FBXO38_ENST00000513826.1_Missense_Mutation_p.A869V|FBXO38_ENST00000296701.6_Missense_Mutation_p.A869V|FBXO38_ENST00000394370.3_Missense_Mutation_p.A1039V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1114						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACGAGCTGCAGAGCCCAAC	0.428000													4	73					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67099080	67099080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67099080G>T	ENST00000284425.2	-	21	2944	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	924					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGATGCTTCAGTGATTTTATA	0.284000													3	20					1	1	1	1	0
TANC2	26115	broad.mit.edu	37	17	61498030	61498030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498030C>T	ENST00000424789.2	+	25	4691	c.4687C>T	c.(4687-4689)Cgc>Tgc	p.R1563C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1573C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1563							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCACCCGTGCGCTATCAGCA	0.577000													14	21					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122716899	122716899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716899C>T	ENST00000267199.4	-	13	1797	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R523Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	562					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGAGAGAAATCGCAGGGCAGC	0.428000													54	86					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110872	55110872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55110872C>T	ENST00000314721.2	+	1	246	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTTGTCACTTATGGATGC	0.448000													11	165					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425010	71425010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71425010G>T	ENST00000373657.1	-	3	3840	c.3238C>A	c.(3238-3240)Ctt>Att	p.L1080I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.L1203I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1203					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGCTTTACAAGAGTCTCATAG	0.463000													6	66					0.0215528	0.0221649	1	1	0
PDP2	57546	broad.mit.edu	37	16	66918675	66918675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66918675C>T	ENST00000311765.2	+	2	822	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	163					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGGCAGTGTCCCTGATGTCC	0.547000													16	27					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825126	26825126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26825126G>A	ENST00000376236.4	+	10	1479	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	342	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATTTATTATGTACCCAAAGG	0.343000													68	104					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464855	17464855	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17464855A>G	ENST00000302539.4	-	9	1462	c.1337T>C	c.(1336-1338)aTt>aCt	p.I446T	ABCC8_ENST00000389817.3_Missense_Mutation_p.I446T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	446	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACCCACAATGATCTGAGG	0.542000													3	43					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105607695	105607695	+	Splice_Site	SNP	C	C	A	rs113419658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105607695C>A	ENST00000254765.3	-	3	764		c.e3-1		BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Splice_Site|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTCTGATCCTATCAAAACA	0.463000													16	20					0.00316338	0.00334491	1	1	0
NALCN	259232	broad.mit.edu	37	13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552000													67	101					0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32664552	32664552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32664552A>G	ENST00000375114.3	+	6	1119	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	RALY_ENST00000246194.3_Missense_Mutation_p.I197V|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	197						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGACACAGATCAAGTCCAA	0.587000													4	44					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56270815	56270815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56270815C>T	ENST00000225371.5	+	3	364	c.254C>T	c.(253-255)aCa>aTa	p.T85I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	85					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCCACCAGGACAGTTGTTCGG	0.577000													5	81					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574962	57574962	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57574962C>T	ENST00000243077.3	+	34	6016	c.5550C>T	c.(5548-5550)tgC>tgT	p.C1850C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1850	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCCCTGCAGTGTCAACA	0.647000													5	56					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023377	140023377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140023377G>A	ENST00000394671.3	+	9	1032	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M|TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	311					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502000													17	30					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065984	42065984	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42065984G>A	ENST00000395925.3	-	8	1140	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	352					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACGGGCGCGGAAGAGTAGG	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	23					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64011660	64011660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64011660G>T	ENST00000371088.4	+	7	1124	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	293							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATCAGTACAGGATGCAAATA	0.328000													35	36					3.67414e-24	4.87106e-24	1	1	0
RILPL2	196383	broad.mit.edu	37	12	123900468	123900468	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123900468C>A	ENST00000280571.8	-	4	902	c.605_splice	c.e4-1	p.L202_splice		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	202						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GAAAAAAGAACCTGGTGTGGA	0.488000													106	183					5.11573e-52	6.92008e-52	1	1	0
ZNF398	0	broad.mit.edu	37	7	148876569	148876569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148876569C>T	ENST00000420008.2	+	6	1880	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	ZNF398_ENST00000540950.1_Silent_p.G540G|ZNF398_ENST00000426851.2_Silent_p.G364G|ZNF398_ENST00000475153.1_Silent_p.G535G|ZNF398_ENST00000491174.1_Silent_p.G364G|ZNF398_ENST00000335901.4_Silent_p.G364G|ZNF398_ENST00000483892.1_Silent_p.G364G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	535					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCACACAGGCGAGCGGCCCT	0.607000													18	42					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110168C>A	ENST00000542202.1	-	0	415				ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H			P21128	ENDOU_HUMAN	endonuclease, polyU-specific						female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0.248553	0.25002	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719202	50719202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50719202G>T	ENST00000449103.1	-	24	4104	c.3964C>A	c.(3964-3966)Ctg>Atg	p.L1322M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1322M			O15031	PLXB2_HUMAN	plexin B2	1322					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTTCAGCAGGTTGGAGAAC	0.662000													7	19					1.06961e-07	1.26574e-07	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12854195	12854195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854195G>T	ENST00000332296.7	+	3	522	c.419G>T	c.(418-420)aGg>aTg	p.R140M		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	140										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGTCCAAGGATGGGAGAG	0.537000													6	235					0.0215528	0.0221649	1	1	0
ETFDH	2110	broad.mit.edu	37	4	159606352	159606352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159606352C>A	ENST00000511912.1	+	5	919	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ETFDH_ENST00000307738.5_Missense_Mutation_p.P149H	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	196					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAGTATACCCTGGTTATGCA	0.368000													7	109					0.000157383	0.00017284	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37048693	37048693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37048693G>T	ENST00000282516.8	+	39	7178	c.6679G>T	c.(6679-6681)Gtc>Ttc	p.V2227F	NIPBL_ENST00000448238.2_Missense_Mutation_p.V2227F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2227					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTCCTCAGTCAATTTAAA	0.343000													19	40					2.35188e-11	2.93101e-11	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120831757	120831757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120831757G>A	ENST00000527524.2	+	17	2301	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G672R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	672					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAATTCACGGAGGCTCCAG	0.522000													25	33					0	0	1	0	0
HLA-F-AS1	0	broad.mit.edu	37	6	29713481	29713481	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29713481G>T	ENST00000458236.1	-	0	117																											AGCACCGTGAGGTTGTAACAA	0.507000													5	43					0.000602214	0.000649039	1	1	0
PAN2	9924	broad.mit.edu	37	12	56718252	56718252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56718252C>T	ENST00000425394.2	-	12	2130	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	PAN2_ENST00000548043.1_Missense_Mutation_p.R585H|PAN2_ENST00000257931.5_Missense_Mutation_p.R585H|PAN2_ENST00000440411.3_Missense_Mutation_p.R585H	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	585					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGAATAGTACGGAATGCCCG	0.502000													4	51					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200377831	200377831	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377831G>C	ENST00000294740.2	-	2	1127	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	ZNF281_ENST00000367353.1_Missense_Mutation_p.H335D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H299D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	335					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCCTCTTGTGTCTCTCCATA	0.408000													21	291					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150082692	150082692	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150082692T>C	ENST00000369130.3	+	14	2121	c.1575T>C	c.(1573-1575)acT>acC	p.T525T	VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.T420T|VPS45_ENST00000484306.1_3'UTR	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	525					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGCACCACTCCTGGAGTGA	0.443000													3	52					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010520	73010520	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73010520C>A	ENST00000313375.3	-	13	2068	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	MLXIPL_ENST00000354613.1_Missense_Mutation_p.G672V|MLXIPL_ENST00000395189.1_Missense_Mutation_p.G581V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G580V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G672V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G674V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	674					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCACGAGCCCATGAAGGGT	0.642000													23	52					4.26978e-12	5.35206e-12	1	1	0
CENPBD1	92806	broad.mit.edu	37	16	90038294	90038294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90038294G>A	ENST00000314994.3	-	1	648	c.37C>T	c.(37-39)Cct>Tct	p.P13S	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	13	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TTGGCACTAGGGATGACAGTT	0.502000													12	18					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24515526	24515526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24515526C>T	ENST00000398319.2	+	28	4878	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	CABIN1_ENST00000405822.2_Missense_Mutation_p.P1419L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1498L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1498					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.P1498Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGGGGCTGCCGGCTGGTGCT	0.642000													10	38					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926110	45926110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45926110C>T	ENST00000395629.2	+	8	2071	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	MAPK8IP1_ENST00000241014.2_Nonsense_Mutation_p.Q591*			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	591	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCTGCTATGCAAAAGGTACC	0.592000													20	27					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15215722	15215722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15215722C>T	ENST00000395930.1	-	7	1141	c.955G>A	c.(955-957)Gct>Act	p.A319T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A319T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	319					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTAGCTTAGCGGAAGCTGCC	0.458000													25	57					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349436	103349436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103349436G>A	ENST00000357421.4	-	2	685	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	169					transport	integral to membrane|mitochondrial inner membrane		p.R169W(1)									AGTGACAGCCGCCCCCAAAGC	0.532000													6	148					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809259	47809259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809259G>A	ENST00000285106.6	-	14	2503	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	CXXC1_ENST00000412036.2_Missense_Mutation_p.R601W|CXXC1_ENST00000589940.1_Silent_p.C584C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	597					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCGCACGCCGCAGCTTCTCC	0.612000													12	20					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050822	238050822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238050822G>T	ENST00000366570.4	-	5	751	c.593C>A	c.(592-594)gCt>gAt	p.A198D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	198	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGAGACACAGCAATAGAGAA	0.537000													9	34					1.76689e-08	2.11513e-08	1	1	0
CD36	948	broad.mit.edu	37	7	80276087	80276087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80276087G>A	ENST00000435819.1	+	6	715	c.31G>A	c.(31-33)Gct>Act	p.A11T	CD36_ENST00000538969.1_Missense_Mutation_p.A11T|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.A11T|CD36_ENST00000433696.2_Missense_Mutation_p.A11T|CD36_ENST00000534394.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.A11T|CD36_ENST00000544133.1_Missense_Mutation_p.A11T|CD36_ENST00000432207.1_Missense_Mutation_p.A11T|CD36_ENST00000309881.7_Missense_Mutation_p.A11T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	11					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGCTCATCGCTGGGGCTGT	0.453000													73	52					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156641241	156641241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156641241C>A	ENST00000422843.3	+	4	517	c.365C>A	c.(364-366)cCt>cAt	p.P122H	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	122					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATATCATCCTAATTTCTGG	0.448000			T	SYK	peripheral T-cell lymphoma								10	87					2.17888e-05	2.45068e-05	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416925	105416925	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416925C>T	ENST00000333244.5	-	7	4982	c.4863G>A	c.(4861-4863)ctG>ctA	p.L1621L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGCTGGACAGAGACATCT	0.617000													6	168					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14160031	14160031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14160031C>T	ENST00000263379.2	+	10	1432	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	436	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCGCCATAGCGTGGGGAGAG	0.637000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	1	0	0
HOXD8	3234	broad.mit.edu	37	2	176996304	176996304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176996304G>T	ENST00000313173.4	+	2	1464	c.837G>T	c.(835-837)gaG>gaT	p.E279D	HOXD8_ENST00000548663.1_Missense_Mutation_p.E175D|HOXD8_ENST00000429017.1_Missense_Mutation_p.E95D|HOXD8_ENST00000450510.2_Missense_Mutation_p.E278D|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.E278D	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	279					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCCCAAGAGCTGGAGGAAG	0.428000													12	20					1.08611e-07	1.2824e-07	1	1	0
BRCA1	672	broad.mit.edu	37	17	41201147	41201147	+	Silent	SNP	G	G	T	rs80359878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41201147G>T	ENST00000309486.4	-	20	5536	c.4509C>A	c.(4507-4509)acC>acA	p.T1503T	BRCA1_ENST00000351666.3_Silent_p.T616T|BRCA1_ENST00000471181.2_Silent_p.T1820T|BRCA1_ENST00000354071.3_Silent_p.T1534T|BRCA1_ENST00000591534.1_Silent_p.T290T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Silent_p.T657T|BRCA1_ENST00000346315.3_Silent_p.T1560T|BRCA1_ENST00000357654.3_Silent_p.T1799T|BRCA1_ENST00000591849.1_Silent_p.T32T|BRCA1_ENST00000586385.1_Silent_p.T109T|BRCA1_ENST00000493795.1_Silent_p.T1752T|BRCA1_ENST00000491747.2_Silent_p.T695T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1799					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGCCAAGGGTGAATGATG	0.473000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			12	26					2.80697e-09	3.39963e-09	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24822049	24822049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24822049T>A	ENST00000376451.2	+	11	2606	c.2346T>A	c.(2344-2346)taT>taA	p.Y782*	KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Y1099*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Y1064*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Y1063*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Y1019*			Q5T5P2	SKT_HUMAN	KIAA1217	1099					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACAAAATATCCAGCAGAGG	0.512000													9	56					0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354871	33354871	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33354871C>T	ENST00000373467.3	+	2	474	c.372C>T	c.(370-372)atC>atT	p.I124I	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	124	EF-hand 3.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCTGGAGATCGTGCAGGTGG	0.642000													9	25					0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601250	55601250	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601250C>T	ENST00000457326.2	+	1	667	c.582C>T	c.(580-582)gtC>gtT	p.V194V	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	194	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						AAATGATTGTCCGCCGGTATG	0.493000													90	105					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650943	121650943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650943G>T	ENST00000393386.2	+	12	2254	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E615*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	615					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGAAAACCCAGAGACAATAAC	0.413000													20	78					8.10497e-08	9.61437e-08	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682426	31682426	+	Missense_Mutation	SNP	C	C	T	rs138066602	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682426C>T	ENST00000319386.3	+	11	1991	c.998C>T	c.(997-999)gCg>gTg	p.A333V	CCDC129_ENST00000451887.2_Missense_Mutation_p.A507V|CCDC129_ENST00000407970.3_Missense_Mutation_p.A481V|CCDC129_ENST00000409210.1_Missense_Mutation_p.A389V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	481										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAAGTAGGGCGAGCATGTCT	0.512000													36	99					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84614635	84614635	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84614635C>A	ENST00000262753.4	-	4	503	c.357_splice	c.e4-1	p.E120_splice	POF1B_ENST00000373145.3_Splice_Site_p.E120_splice	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	120							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GAATGAAGTTCCTGTGAAGAA	0.333000													4	87					2.56e-06	2.9446e-06	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32844255	32844255	+	Silent	SNP	C	C	T	rs148132440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844255C>T	ENST00000311921.3	+	2	711	c.519C>T	c.(517-519)caC>caT	p.H173H	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Silent_p.H173H|ZNF507_ENST00000544431.1_Silent_p.H173H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGAAGCCCACGTGGTGAATG	0.448000													22	34					0	0	1	0	0
IGLV2-14	0	broad.mit.edu	37	22	23101539	23101539	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23101539C>T	ENST00000390312.2	+	0	234																											AGGCAAAGCCCCCAAACTCAT	0.537000													70	123					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	794424	794424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794424C>T	ENST00000297440.6	+	5	1243	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A408V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	408							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTTCCAGGCCTGCACCGAC	0.637000													18	3					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36365177	36365177	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36365177C>T	ENST00000312412.4	-	4	418		c.e4-1		RP11-1407O15.2_ENST00000544906.1_Splice_Site																kidney(1)|lung(3)	4						GTTCCCGTACCTGTGATTGAA	0.343000													6	80					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619040	1619040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1619040G>T	ENST00000412090.1	-	1	484	c.441C>A	c.(439-441)tgC>tgA	p.C147*	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	147	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGGACACAGCAGCTGGACT	0.607000													21	81					4.26978e-12	5.35206e-12	1	1	0
ELK1	2002	broad.mit.edu	37	X	47496428	47496428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47496428G>T	ENST00000247161.3	-	5	1271	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	ELK1_ENST00000376983.3_Missense_Mutation_p.A391D|ELK1_ENST00000592066.1_Missense_Mutation_p.A337D	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	391	Sufficient for interaction with MAD2L2.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGAGAGCTTGGCCGGGCTACG	0.612000													6	14					0.0293803	0.0301098	1	1	0
SLC2A11	66035	broad.mit.edu	37	22	24210757	24210757	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24210757C>T	ENST00000345044.6	+	3	478	c.210C>T	c.(208-210)atC>atT	p.I70I	SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000316185.8_Silent_p.I73I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562000													32	40					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31860293	31860293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31860293G>A	ENST00000395728.3	-	6	925	c.926C>T	c.(925-927)aCg>aTg	p.T309M	EHMT2_ENST00000375528.4_Missense_Mutation_p.T309M|EHMT2_ENST00000375537.4_Missense_Mutation_p.T252M|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T252M			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	252	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCCCTTTCGTCAGGGTCAC	0.542000													18	37					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909181	52909181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909181G>A	ENST00000391788.2	+	5	530	c.7G>A	c.(7-9)Gtg>Atg	p.V3M	ZNF528_ENST00000598192.1_Missense_Mutation_p.V13M|ZNF528_ENST00000360465.3_Missense_Mutation_p.V13M|ZNF528_ENST00000594530.1_Missense_Mutation_p.V13M			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATGGATGTGGCCATAGA	0.458000													67	107					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	53740162	53740162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53740162G>A	ENST00000401642.3	-	9	2162	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.R632*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	677					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGATGCAGTCGGTCAGTTGCA	0.493000													4	59					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965809	88965809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88965809G>T	ENST00000333190.4	+	4	4122	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1171						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATGCAGAAGCAACTCCTAT	0.468000										HNSCC(36;0.09)			6	76					5.9392e-07	6.91975e-07	1	1	0
DKK4	27121	broad.mit.edu	37	8	42234556	42234556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234556G>A	ENST00000220812.2	-	1	194	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	3					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGACGGCCGCCACCATCCT	0.647000													8	19					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153581704	153581704	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153581704C>A	ENST00000422373.1	-	36	6206	c.5958G>T	c.(5956-5958)gaG>gaT	p.E1986D	FLNA_ENST00000344736.4_Missense_Mutation_p.E1954D|FLNA_ENST00000360319.4_Missense_Mutation_p.E1986D|FLNA_ENST00000369850.3_Missense_Mutation_p.E1994D|FLNA_ENST00000369856.3_Missense_Mutation_p.E127D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1994					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAGGGCTCCTCCCGGCCCG	0.647000													6	89					5.18039e-06	5.91835e-06	1	1	0
KRI1	65095	broad.mit.edu	37	19	10675645	10675645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10675645G>A	ENST00000312962.6	-	3	271	c.252C>T	c.(250-252)ccC>ccT	p.P84P	KRI1_ENST00000361821.5_Silent_p.P80P|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	84										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GATAAATGCGGGGGTCCTTCT	0.507000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	87					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94872782	94872782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94872782C>T	ENST00000358746.2	-	9	905	c.607G>A	c.(607-609)Gta>Ata	p.V203I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	203							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTATAAAGTACTTGGTGATCT	0.299000													12	25					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100365443	100365443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365443T>C	ENST00000273352.3	+	10	1409	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y86H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	381	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCTATTCCTATGCCTGTGT	0.378000													5	43					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5560710	5560710	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5560710A>C	ENST00000379019.4	-	7	629	c.417T>G	c.(415-417)taT>taG	p.Y139*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	139					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTTTTTCAGAATAATGCAAAC	0.313000													28	30					0	0	1	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62796730	62796730	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62796730G>A	ENST00000582986.1	-	0	1190					NR_024386.1																						TCCTGCTGAGGCCGGACCTTC	0.667000													14	29					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765006	40765006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40765006G>A	ENST00000397128.2	-	7	1164	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R401C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	386					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGGTATGGCGTGCCCTTGGT	0.438000													23	28					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236722336	236722336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236722336T>C	ENST00000366582.3	-	35	4984	c.4870A>G	c.(4870-4872)Aat>Gat	p.N1624D	HEATR1_ENST00000366581.2_Missense_Mutation_p.N1543D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1624					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTTGTTATTCAAAAGGTCC	0.483000													45	56					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927843	75927843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75927843C>T	ENST00000274364.6	+	15	2069	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.S144F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S144F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S150F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	591					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGCTCAAATCTGAAAGAGGT	0.328000													37	44					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2635158G>A	ENST00000329276.5	+	4	823	c.307G>A	c.(307-309)Gca>Aca	p.A103T		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	103					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.A103T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517000													31	43					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17065504	17065504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17065504G>A	ENST00000357277.3	+	6	977	c.806G>A	c.(805-807)aGc>aAc	p.S269N	REPS2_ENST00000303843.7_Missense_Mutation_p.S268N|REPS2_ENST00000380064.4_Missense_Mutation_p.S129N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	269					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGGATAACAGCAGTTACCCC	0.418000													50	87					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153795489	153795489	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153795489C>T	ENST00000297107.6	+	11	1787	c.1650C>T	c.(1648-1650)cgC>cgT	p.R550R	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.R223R|GALNT10_ENST00000377661.2_Silent_p.R488R	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	550	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGAAATACCGCAAAGTAAGAT	0.502000													4	50					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45533618	45533618	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533618T>G	ENST00000379161.4	-	7	965	c.919A>C	c.(919-921)Aga>Cga	p.R307R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	307					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTGACTGCTCTCTGTCTAGAA	0.443000													47	104					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084557	176084557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084557C>T	ENST00000310032.8	+	9	1086	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Missense_Mutation_p.T283M|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.T263M	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	130						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGGCTTACGCCCACCATT	0.562000													6	16					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443000													12	68					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219613	56219613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56219613G>A	ENST00000381226.3	-	12	1130	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	MIER3_ENST00000381213.3_Missense_Mutation_p.T366M|MIER3_ENST00000409421.1_Missense_Mutation_p.T304M|MIER3_ENST00000381199.3_Missense_Mutation_p.T367M|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AGCATTTACCGTCCCACCCAA	0.403000													7	155					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112481451	112481451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112481451C>T	ENST00000261745.4	-	18	2476	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	743						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCAATAAATCGCTTTCCTGT	0.413000													26	52					0	0	1	0	0
RP11-798G7.6	0	broad.mit.edu	37	17	43625859	43625859	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43625859G>A	ENST00000586348.1	+	0	45																											GTGATGGTAAGTCCCAGGTCC	0.493000													38	73					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150599945	150599945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150599945C>A	ENST00000271690.8	-	2	287	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	ENSA_ENST00000513281.1_Missense_Mutation_p.G57W|ENSA_ENST00000369014.5_Missense_Mutation_p.G61W|ENSA_ENST00000369009.3_Missense_Mutation_p.G61W|ENSA_ENST00000369016.4_Missense_Mutation_p.G61W|ENSA_ENST00000503241.1_Missense_Mutation_p.G61W|ENSA_ENST00000503345.1_Missense_Mutation_p.G61W|ENSA_ENST00000362052.7_Missense_Mutation_p.G61W|ENSA_ENST00000356527.5_Missense_Mutation_p.G61W|ENSA_ENST00000339643.5_Missense_Mutation_p.G61W|ENSA_ENST00000361631.5_Missense_Mutation_p.G57W|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Missense_Mutation_p.G57W	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	61					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCATACCCCTTTCTGGAGT	0.483000													9	122					0.000274275	0.000298791	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95531688	95531688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95531688G>A	ENST00000297591.5	-	9	2113	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.H680Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H680Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	680					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCAAGAAGTGATGACTGTGA	0.388000													16	92					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475386	62475386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62475386T>C	ENST00000541428.1	-	18	1427	c.1267A>G	c.(1267-1269)Aat>Gat	p.N423D	ASPH_ENST00000379454.4_Missense_Mutation_p.N452D	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	452					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAGTATCATTGGGAAATAGT	0.358000													24	57					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930527	184930527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930527C>T	ENST00000308497.4	+	3	1971	c.536C>T	c.(535-537)aCg>aTg	p.T179M	STOX2_ENST00000438269.1_Missense_Mutation_p.T179M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	179					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGGACCATCACGCCCTCTGCC	0.557000													23	60					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779811	91779811	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91779811C>A	ENST00000389857.6	-	15	2435	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	783					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCAAGGTCTGCGTCTTGT	0.677000													7	13					0.000274275	0.000298791	1	1	0
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582000													4	97					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21742191	21742191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21742191G>T	ENST00000388958.3	+	20	2242	c.2241G>T	c.(2239-2241)aaG>aaT	p.K747N	OTOA_ENST00000286149.4_Missense_Mutation_p.K761N|OTOA_ENST00000388956.4_Missense_Mutation_p.K668N|OTOA_ENST00000388957.3_Missense_Mutation_p.K423N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	761					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGACCACGAAGGACTTGGGAC	0.443000													14	3					4.14922e-12	5.2041e-12	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34663184C>T	ENST00000488417.1	+	2	799	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	C1orf94_ENST00000373374.3_Missense_Mutation_p.R37C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	37							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542000													9	32					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903287	129903287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129903287C>A	ENST00000368654.3	-	13	7192	c.6817G>T	c.(6817-6819)Gga>Tga	p.G2273*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.G1913*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2273	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCACCTCCTGCTGGTTTG	0.473000													91	137					2.00703e-41	2.70821e-41	1	1	0
SFMBT1	51460	broad.mit.edu	37	3	52955739	52955739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52955739G>T	ENST00000394752.3	-	11	1622	c.1240C>A	c.(1240-1242)Ctg>Atg	p.L414M	SFMBT1_ENST00000296295.6_Missense_Mutation_p.L414M|SFMBT1_ENST00000394750.1_Missense_Mutation_p.L414M|SFMBT1_ENST00000358080.2_Missense_Mutation_p.L414M	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	414					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGGAGCCACAGGTAGGAGCCT	0.507000													6	190					0.0293803	0.0301098	1	1	0
MEP1A	4224	broad.mit.edu	37	6	46806765	46806765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46806765C>T	ENST00000230588.4	+	14	2142	c.2133C>T	c.(2131-2133)gcC>gcT	p.A711A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	711				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTGTCAGGCCGTGCAGGTGC	0.587000													39	75					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946150	27946150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27946150G>A	ENST00000345068.5	-	4	592	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CORO6_ENST00000388767.3_Missense_Mutation_p.L127F|CORO6_ENST00000445145.2_Missense_Mutation_p.L127F|CORO6_ENST00000584969.1_Missense_Mutation_p.L127F|CORO6_ENST00000580212.1_Missense_Mutation_p.L127F|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	127					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGCCCTCAAGTGTGATGATA	0.567000													6	13					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112535229	112535229	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112535229A>C	ENST00000431543.2	-	4	594	c.340T>G	c.(340-342)Tcg>Gcg	p.S114A	LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000522006.1_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAATGAACGATAGGGCAGAA	0.483000													25	39					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721165	88721165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88721165G>A	ENST00000301012.3	-	8	977	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	316					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAGTGTCGTCCAGGGTGA	0.612000													5	34					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442351	84442351	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84442351G>A	ENST00000286744.5	+	4	490	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R89Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	89	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTGCTCCCGGACCTGTGGG	0.507000													26	29					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139164320	139164320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164320G>T	ENST00000423192.1	+	5	708	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E114*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E183*			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	183					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACAAAGAGAAAAGTGCCT	0.408000			"""N, Splice, Mis"""		ETP ALL								30	38					6.04164e-23	7.98701e-23	1	1	0
EMC8	10328	broad.mit.edu	37	16	85814835	85814835	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85814835G>A	ENST00000253457.3	-	3	604	c.360C>T	c.(358-360)agC>agT	p.S120S	EMC8_ENST00000435200.2_Silent_p.S120S	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		GCGCAGTGTCGCTGAAGCCCT	0.547000													8	21					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586242	50586242	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586242A>G	ENST00000378182.3	+	2	904	c.166A>G	c.(166-168)Aca>Gca	p.T56A	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.T56A|TRIM13_ENST00000420995.2_Missense_Mutation_p.T56A|TRIM13_ENST00000356017.4_Missense_Mutation_p.T59A|TRIM13_ENST00000298772.5_Missense_Mutation_p.T59A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	56					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGTGTCCTACATGCCGTAA	0.433000													7	47					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180334613	180334613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180334613C>T	ENST00000273654.4	-	22	3118		c.e22+1		CCDC39_ENST00000442201.2_Splice_Site|TTC14_ENST00000382584.4_Intron			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATATCGATACCTGTTTGGTC	0.308000													6	12					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117188682	117188682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117188682C>A	ENST00000362057.3	-	4	1143	c.975G>T	c.(973-975)caG>caT	p.Q325H	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	325	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTAGAATCTGGTCCCCAA	0.527000													4	23					0.014758	0.0152625	1	1	0
NOS3	4846	broad.mit.edu	37	7	150706122	150706122	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150706122C>A	ENST00000297494.3	+	18	2574	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	NOS3_ENST00000461406.1_Silent_p.A533A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	739					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTGAGCGCCCAGGCCGAGG	0.672000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	17					4.35082e-09	5.25983e-09	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783357	115783357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115783357G>A	ENST00000343348.6	-	19	2832	c.2045C>T	c.(2044-2046)gCt>gTt	p.A682V	SEMA6A_ENST00000503865.1_Missense_Mutation_p.A61V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A159V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A699V|SEMA6A_ENST00000513137.1_Missense_Mutation_p.A109V|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A682V|CTB-118N6.3_ENST00000512128.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	682					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCACCACAGCCACGTCTTT	0.607000													23	32					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625626	66625626	+	Silent	SNP	G	G	T	rs138102608		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625626G>T	ENST00000309602.4	+	1	654	c.411G>T	c.(409-411)ccG>ccT	p.P137P	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Silent_p.P137P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	137						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCATCGCGCCGGGAGCCTTCG	0.692000													27	38					4.47668e-21	5.88546e-21	1	1	0
MORC3	23515	broad.mit.edu	37	21	37736539	37736539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37736539C>A	ENST00000400485.1	+	14	1677	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	534					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCACCTCAGTCTGAACCTGAG	0.388000													7	44					1.06961e-07	1.26574e-07	1	1	0
MDC1	9656	broad.mit.edu	37	6	30679881	30679881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30679881G>A	ENST00000376406.3	-	5	2485	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	MDC1_ENST00000376405.2_Missense_Mutation_p.A613V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	613					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTAAGAACAGCTGCAGCCCA	0.582000								Other conserved DNA damage response genes					6	29					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998223	119998223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998223G>A	ENST00000341846.5	-	3	1376	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TRIM29_ENST00000529044.1_Missense_Mutation_p.R58W|TRIM29_ENST00000541857.1_Missense_Mutation_p.R52W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	319					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCAGGTCCCGCACCAGGTCC	0.567000													6	82					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614479	247614479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247614479C>T	ENST00000318749.6	-	1	829	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGGGAGTAGCTGGAAGGGGG	0.483000													8	152					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35040694	35040694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35040694G>A	ENST00000231420.6	-	2	363	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	55					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TATCTTTCAGGCATGAAGTCA	0.423000													37	70					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338462	72338462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338462T>C	ENST00000340595.3	+	11	1742	c.1546T>C	c.(1546-1548)Tgg>Cgg	p.W516R	SLC4A4_ENST00000425175.1_Missense_Mutation_p.W560R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.W560R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.W516R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.W560R|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	560						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GATTGGCCTGTGGTCCGCCTT	0.428000													90	123					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61770979	61770979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61770979G>A	ENST00000361357.3	+	17	2134	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	MAP3K3_ENST00000584573.1_Missense_Mutation_p.A602T|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A606T|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A571T|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A575T	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	575	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.A575T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTATGGCCGCCATCTTCAA	0.587000													27	49					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58134674	58134674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58134674T>C	ENST00000184956.6	-	12	1830	c.1814A>G	c.(1813-1815)cAg>cGg	p.Q605R	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q605R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	605							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGAACATGGCTGTTGCAGAAG	0.502000													4	54					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65759506	65759506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65759506G>T	ENST00000341861.5	-	13	3220	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	DPP8_ENST00000559233.1_Missense_Mutation_p.P547H|DPP8_ENST00000321118.7_Missense_Mutation_p.P547H|DPP8_ENST00000339244.5_Missense_Mutation_p.P374H|DPP8_ENST00000300141.6_Missense_Mutation_p.P531H|DPP8_ENST00000358939.4_Missense_Mutation_p.P531H|DPP8_ENST00000321147.6_Missense_Mutation_p.P547H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	547					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGCTCTAAAGGGGAGTCTTT	0.443000													7	46					8.12818e-05	8.99451e-05	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19685272	19685272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19685272G>T	ENST00000284885.3	-	18	2188	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	719	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTAGTCCCAGCAGTTGACAA	0.358000													35	37					1.04352e-10	1.28949e-10	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171553178	171553178	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553178T>A	ENST00000367742.3	+	29	7735	c.7493T>A	c.(7492-7494)gTc>gAc	p.V2498D	PRRC2C_ENST00000392078.3_Missense_Mutation_p.V2498D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V2431D|PRRC2C_ENST00000338920.4_Missense_Mutation_p.V2496D			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2496	Gln-rich.						protein C-terminus binding										TTTCCAACTGTCCAACACCAA	0.438000													20	115					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349472	26349472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26349472G>A	ENST00000374280.3	+	1	1202	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	112					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCATCGCAGGATCCTG	0.572000													25	36					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23871975	23871975	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23871975G>A	ENST00000405093.3	-	11	1003	c.933C>T	c.(931-933)taC>taT	p.Y311Y	MYH6_ENST00000356287.3_Silent_p.Y311Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.642000													8	18					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667953	100667953	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667953G>T	ENST00000316594.5	+	2	1055	c.977G>T	c.(976-978)aGa>aTa	p.R326I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	326	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCCGATGGCAGAGTTACCGGT	0.423000													15	163					2.61681e-11	3.25769e-11	1	1	0
PYGO2	90780	broad.mit.edu	37	1	154933454	154933454	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154933454T>C	ENST00000368457.2	-	2	323	c.153_splice	c.e2+1	p.Q51_splice	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Splice_Site_p.Q14_splice	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	51	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATTCACCTGAGTATTTGA	0.502000													60	378					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98409946G>A	ENST00000186436.5	-	30	3685	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1153						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAGGATAGCCGCCTTCGAAAT	0.453000													20	13					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565608	40565608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40565608C>T	ENST00000455577.2	+	8	2464	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PAK6_ENST00000560346.1_Missense_Mutation_p.H518Y|PAK6_ENST00000542403.2_Missense_Mutation_p.H518Y|PAK6_ENST00000441369.1_Missense_Mutation_p.H518Y|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.H518Y|PAK6_ENST00000260404.4_Missense_Mutation_p.H518Y	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	518	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCCTACCTGCATGCTCAGGG	0.607000													5	23					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131929180	131929180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131929180T>G	ENST00000403834.3	-	12	1300	c.1127A>C	c.(1126-1128)gAt>gCt	p.D376A	MED23_ENST00000368068.3_Missense_Mutation_p.D370A|MED23_ENST00000368060.3_Missense_Mutation_p.D370A|MED23_ENST00000539158.1_Missense_Mutation_p.D370A|MED23_ENST00000354577.4_Missense_Mutation_p.D376A|MED23_ENST00000368058.1_Missense_Mutation_p.D376A|MED23_ENST00000545957.1_Intron|MED23_ENST00000540546.1_Missense_Mutation_p.D376A|MED23_ENST00000368053.4_Missense_Mutation_p.D376A			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	370					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAAGATGATCTCTGCCTTT	0.373000													26	53					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42694369	42694369	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42694369G>T	ENST00000254250.3	-	2	457	c.227C>A	c.(226-228)gCt>gAt	p.A76D	THAP1_ENST00000345117.2_Intron|THAP1_ENST00000532093.1_5'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	76					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGGCACAGCATTCTCTTT	0.353000													46	80					6.61955e-31	8.87288e-31	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125528127	125528127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125528127G>A	ENST00000241305.3	-	9	1368	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	405					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGATGCGCGCATTCCGGGC	0.647000													15	99					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107581161	107581161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107581161C>T	ENST00000374736.3	-	23	3639	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1082	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAATGGTGCGGCCTGCCAG	0.547000													10	14					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59893604	59893604	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59893604T>A	ENST00000265036.5	-	11	1633	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q460H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q433H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	522					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAGTTCTTTGAAATGGTT	0.418000													8	143					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916424	10916424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10916424G>T	ENST00000298232.7	-	19	1535	c.1168C>A	c.(1168-1170)Ctc>Atc	p.L390I	TPTE_ENST00000342420.5_Missense_Mutation_p.L370I|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.L408I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGGAGGGAGATTCCAGTTG	0.363000													5	136					0.000602214	0.000649039	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9263874	9263874	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9263874C>T	ENST00000383440.2	+	9	5939	c.5682C>T	c.(5680-5682)caC>caT	p.H1894H	ANKRD12_ENST00000262126.3_Silent_p.H1917H|ANKRD12_ENST00000400020.3_Silent_p.H1894H	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1917						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTTGCAACACAGTATTGAAA	0.308000													13	19					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36637211	36637211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36637211T>C	ENST00000246533.3	+	9	1316	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	CAPNS1_ENST00000588780.1_Missense_Mutation_p.F250L|CAPNS1_ENST00000587718.1_Missense_Mutation_p.F240L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.F210L|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000589146.1_Missense_Mutation_p.F66L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	240	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACGCCATGTTCCGTGAGTG	0.507000													67	98					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139292	72139292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72139292G>A	ENST00000555818.1	+	9	3405	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	SIPA1L1_ENST00000537413.1_Silent_p.T494T|SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000358550.2_Silent_p.T1019T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1019	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592000													15	24					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168142	90168142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90168142G>A	ENST00000268138.7	+	20	4706	c.4601G>A	c.(4600-4602)tGc>tAc	p.C1534Y	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.C1533Y					TOPBP1-interacting checkpoint and replication regulator																		GGGAGACAGTGCCAGGCTTCG	0.582000													4	53					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53416537	53416537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53416537G>A	ENST00000371514.3	+	4	478	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SCP2_ENST00000528311.1_Missense_Mutation_p.A23T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.A80T|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	104					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTGTTTATGGCCCGCCAGCT	0.413000													55	88					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573909	115573909	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573909T>C	ENST00000371900.4	+	4	489	c.401T>C	c.(400-402)gTc>gCc	p.V134A		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	134					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATTACAATGTCATAATTGCC	0.318000													9	156					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645134	53645134	+	Missense_Mutation	SNP	C	C	T	rs142905085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53645134C>T	ENST00000452676.2	-	5	1376	c.950G>A	c.(949-951)cGt>cAt	p.R317H	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R317H|ZNF347_ENST00000334197.7_Missense_Mutation_p.R316H	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACATTTGTAACGTTTTTCGCC	0.373000													53	64					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51126253	51126253	+	Silent	SNP	C	C	T	rs143164072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51126253C>T	ENST00000301180.5	+	32	3949	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1305						nucleus	catalytic activity|transcription factor binding	p.I1305I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542000													38	50					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074138	108074138	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108074138C>G	ENST00000357759.5	+	5	1009	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	HHLA2_ENST00000489514.2_Missense_Mutation_p.L199V|HHLA2_ENST00000467562.1_Missense_Mutation_p.L135V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L199V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L199V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	199	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TAACAGCCCACTGAATATTAC	0.403000													19	31					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596366	48596366	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48596366T>G	ENST00000310248.2	-	1	804	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGAGAAAGTCTTCCCCCGACC	0.532000													12	21					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77797420	77797420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77797420T>C	ENST00000393734.1	+	10	905	c.368T>C	c.(367-369)gTg>gCg	p.V123A	GSTZ1_ENST00000557053.1_Missense_Mutation_p.V81A|GSTZ1_ENST00000557639.1_Missense_Mutation_p.V123A|GSTZ1_ENST00000556627.1_Missense_Mutation_p.V151A|GSTZ1_ENST00000216465.5_Missense_Mutation_p.V178A|GSTZ1_ENST00000361389.4_Missense_Mutation_p.V123A|GSTZ1_ENST00000553586.1_Missense_Mutation_p.V179A|GSTZ1_ENST00000349555.3_Missense_Mutation_p.V136A|GSTZ1_ENST00000554279.1_Missense_Mutation_p.V164A	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	178	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGATTCAAGGTGGATCTCACC	0.577000													4	52					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30993237	30993237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30993237G>A	ENST00000295055.8	-	5	642	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R156C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	156	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGCGAGGACGCACAAAGAGG	0.552000													36	47					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238868	57238868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57238868G>A	ENST00000537866.1	+	2	1171	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V100M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	100						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAACAAAATGTGGATGGGCT	0.517000													17	26					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421506	1421506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421506G>A	ENST00000308647.7	+	10	1096	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	327							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGAAGCACGGGTGCGCGAC	0.662000													13	46					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101296419	101296419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101296419G>A	ENST00000369162.2	-	4	750	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R136*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAATAATTCGATTAGTAGCA	0.383000													5	65					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	C	T	rs146352090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:52844174C>T	ENST00000351072.1	+	4	303	c.237C>T	c.(235-237)tgC>tgT	p.C79C	XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.C79C|XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438000													21	38					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6829876	6829876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829876C>A	ENST00000304076.2	+	14	1439	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	VAV1_ENST00000596764.1_Missense_Mutation_p.L417M|VAV1_ENST00000539284.1_Missense_Mutation_p.L352M|VAV1_ENST00000599806.1_Missense_Mutation_p.L394M|VAV1_ENST00000602142.1_Missense_Mutation_p.L449M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	449	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTTTGTAAACCTGCACAGCTT	0.542000													11	78					1.08611e-07	1.2824e-07	1	1	0
CCDC107	203260	broad.mit.edu	37	9	35661071	35661071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35661071C>T	ENST00000426546.2	+	5	805	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.R220W|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	247						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGTGGGGCGGGGACTACG	0.592000													5	76					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2293178	2293178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2293178C>T	ENST00000301729.4	-	6	658	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ECI1_ENST00000562238.1_Missense_Mutation_p.R187H|ECI1_ENST00000570258.1_Missense_Mutation_p.R145H	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	204				RALQ -> SAPE (in Ref. 5; AAA35485).	fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						CTGCAGGGCACGCTCCGCCGC	0.677000													4	25					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68822721	68822721	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68822721C>T	ENST00000294309.3	+	4	431	c.330C>T	c.(328-330)gaC>gaT	p.D110D	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.D110D	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	110					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACGGCGGACGTGCGCTACC	0.597000													4	100					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721441	183721441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183721441C>T	ENST00000511685.1	+	28	8160	c.8037C>T	c.(8035-8037)ccC>ccT	p.P2679P	TENM3_ENST00000406950.2_Silent_p.P2679P					teneurin transmembrane protein 3																		AGCAGTACCCCGAGCTGGCCG	0.706000													3	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045932	9045932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045932G>T	ENST00000397910.4	-	5	35902	c.35699C>A	c.(35698-35700)tCt>tAt	p.S11900Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11900F(1)|p.S7533F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAGCCCAGAGACAGCAGG	0.502000													12	101					0.0135373	0.0140872	1	1	0
ABCB7	22	broad.mit.edu	37	X	74289279	74289279	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74289279A>C	ENST00000253577.3	-	11	1403	c.1379T>G	c.(1378-1380)aTg>aGg	p.M460R	ABCB7_ENST00000373394.3_Missense_Mutation_p.M459R|ABCB7_ENST00000339447.4_Missense_Mutation_p.M419R|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	459					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGGAGATGCCATCACTTTGTC	0.428000													8	68					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084149	29084149	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29084149A>G	ENST00000306108.5	-	3	851	c.828T>C	c.(826-828)agT>agC	p.S276S	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	276							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTACCTCAAAACTTATGACTC	0.318000													17	25					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763060	110763060	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110763060A>T	ENST00000451085.1	+	4	1278	c.232A>T	c.(232-234)Act>Tct	p.T78S	LRRN3_ENST00000422987.3_Missense_Mutation_p.T78S|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T78S	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	78						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTCCTACAGACTAACAATAT	0.353000													9	119					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326320	152326320	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152326320A>G	ENST00000388718.5	-	3	4014	c.3942T>C	c.(3940-3942)acT>acC	p.T1314T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1314							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCCATGAGTAGTTCCTT	0.468000													5	286					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447532	74447532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74447532G>T	ENST00000339953.5	-	4	620	c.499C>A	c.(499-501)Ctg>Atg	p.L167M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	167	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAGCACAGGTGCCGCCCA	0.617000													12	151					1.49906e-05	1.69169e-05	1	1	0
PAX5	5079	broad.mit.edu	37	9	37014994	37014994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37014994C>A	ENST00000358127.4	-	3	484	c.410_splice	c.e3+1	p.R137_splice	PAX5_ENST00000377852.2_Splice_Site_p.R137_splice|PAX5_ENST00000522003.1_Splice_Site_p.R29_splice|PAX5_ENST00000520281.1_Splice_Site_p.R137_splice|PAX5_ENST00000523241.1_Splice_Site_p.R137_splice|PAX5_ENST00000414447.1_Splice_Site_p.R137_splice|PAX5_ENST00000377853.2_Splice_Site_p.R137_splice|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Splice_Site_p.R29_splice|PAX5_ENST00000520154.1_Splice_Site_p.R137_splice|PAX5_ENST00000377847.2_Splice_Site_p.R137_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	137	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGCCCCTCACCTGTTGATGGA	0.582000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								6	140					0.217242	0.218821	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43927114	43927114	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43927114G>A	ENST00000282406.4	+	8	1127	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	339						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGAGGAAGAGACTTTTGGCA	0.453000													16	25					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936749	151936749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151936749G>T	ENST00000367290.5	+	10	1992	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L	CCDC170_ENST00000239374.7_Missense_Mutation_p.V628L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	628																	CATGATAGAAGTGGTAACCAG	0.408000													6	116					3.59834e-05	4.01776e-05	1	1	0
FAT2	2196	broad.mit.edu	37	5	150929016	150929016	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150929016A>C	ENST00000261800.5	-	8	4641	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1543	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACATGAATGGTCACCC	0.542000													17	24					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640739	58640739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640739C>T	ENST00000598312.1	-	4	365	c.132G>A	c.(130-132)gaG>gaA	p.E44E	ZNF329_ENST00000358067.4_Silent_p.E44E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCAAGTGTCCCTCCTGGTTCT	0.473000													9	159					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610756	90610756	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90610756C>T	ENST00000268154.4	+	2	638	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGCCAGGTGACGACAAGGACG	0.657000													5	5					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40802149	40802149	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40802149C>A	ENST00000248929.9	+	9	1071	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SGSM3_ENST00000454798.2_Silent_p.L227L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	294	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAAGCTGCTCCTGCGCATCT	0.617000													6	61					0.00307968	0.00325696	1	1	0
HIAT1	64645	broad.mit.edu	37	1	100525513	100525513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100525513C>T	ENST00000370152.3	+	4	459	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	108					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGCTGCTAACGGTGTTTTTC	0.378000													19	212					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337373	150337373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150337373T>G	ENST00000401000.4	+	1	248	c.183T>G	c.(181-183)caT>caG	p.H61Q	RPRD2_ENST00000369067.3_Missense_Mutation_p.H61Q|RPRD2_ENST00000369068.4_Missense_Mutation_p.H61Q|RPRD2_ENST00000539519.1_Missense_Mutation_p.H61Q|RPRD2_ENST00000492220.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	61	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTCTATCATTGGATGAAGT	0.483000													4	48					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129103953	129103953	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129103953C>A	ENST00000249344.2	+	15	1660	c.1620C>A	c.(1618-1620)atC>atA	p.I540I	STRIP2_ENST00000435494.2_Silent_p.I540I	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CTATCAATATCCTGGCAGATG	0.493000													5	57					0.00198382	0.00210581	1	1	0
TINAG	27283	broad.mit.edu	37	6	54208056	54208056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208056G>A	ENST00000259782.4	+	5	753	c.657G>A	c.(655-657)gaG>gaA	p.E219E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTTCCAGAGTTTTTTGTTG	0.393000													23	42					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123471	140123471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140123471C>T	ENST00000458420.3	+	4	690	c.500C>T	c.(499-501)gCt>gTt	p.A167V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	167	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCCTACAAGGCTGTTGTGACG	0.532000										HNSCC(16;0.037)			31	35					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033778	228033778	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228033778T>G	ENST00000366757.3	+	5	874	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	284	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTTCCTATTTCTCAAAATG	0.532000													23	24					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174224	8174224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8174224C>T	ENST00000600128.1	-	36	4919	c.4505G>A	c.(4504-4506)aGt>aAt	p.S1502N	FBN3_ENST00000270509.2_Missense_Mutation_p.S1502N|FBN3_ENST00000601739.1_Missense_Mutation_p.S1502N			Q75N90	FBN3_HUMAN	fibrillin 3	1502	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAATGCCACTGTCCCCTCG	0.597000													25	45					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329667	74329667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74329667C>A	ENST00000263681.2	+	6	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	POLD3_ENST00000527458.1_Missense_Mutation_p.L121I|POLD3_ENST00000532497.1_Missense_Mutation_p.L54I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	160					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCAGTCACATCTTCACATGTC	0.488000													13	118					7.03913e-09	8.47891e-09	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48634360	48634360	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48634360A>G	ENST00000435803.1	+	58	14719	c.14695A>G	c.(14695-14697)Ata>Gta	p.I4899V	ABCA13_ENST00000544596.1_Missense_Mutation_p.I629V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4899	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGGCAAACAATAATGAAGGA	0.483000													5	145					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39771384	39771384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39771384G>T	ENST00000553728.1	+	14	2665	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E203*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E271*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E208*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E288*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E254*																							TATGCTTGGAGAAGACATAAC	0.383000													10	139					2.17888e-05	2.45068e-05	1	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20190905	20190905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20190905T>C	ENST00000379565.3	-	15	1519	c.1312A>G	c.(1312-1314)Aga>Gga	p.R438G	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R409G|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R410G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R408G|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	438	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGTATACATCTCTTGCAAACA	0.323000													5	30					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010224	31010224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31010224C>A	ENST00000295055.8	-	2	145		c.e2-1		CAPN13_ENST00000465960.2_Splice_Site|CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTCCTTTCCTGTTGGTGAG	0.478000													7	8					8.12818e-05	8.99451e-05	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109804139	109804139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109804139G>A	ENST00000271332.3	+	4	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1396	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602000													37	93					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36103602	36103602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36103602C>T	ENST00000211287.4	+	4	643	c.381C>T	c.(379-381)atC>atT	p.I127I	MAPK13_ENST00000373761.6_Silent_p.I127I|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.I127I|MAPK13_ENST00000373759.1_Silent_p.I49I	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	127	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAGAAGATCCAGTACCTGG	0.552000													30	33					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144898291	144898291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144898291G>A	ENST00000367545.3	+	50	7346	c.7346G>A	c.(7345-7347)cGc>cAc	p.R2449H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2449					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCCTCTCGCAGAGATCTG	0.498000													4	36					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95400540	95400540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95400540C>T	ENST00000287996.3	-	9	935	c.659G>A	c.(658-660)tGc>tAc	p.C220Y		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	220					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCATCTTTGCAGCCGTAAAT	0.567000													5	47					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103336624	103336624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103336624C>T	ENST00000560371.1	+	2	303	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TRAF3_ENST00000351691.5_Missense_Mutation_p.T29M|TRAF3_ENST00000539721.1_Missense_Mutation_p.T29M|TRAF3_ENST00000392745.2_Missense_Mutation_p.T29M|TRAF3_ENST00000347662.4_Missense_Mutation_p.T29M	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	29					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.T29M(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTGGGACGCCAGTTTTT	0.527000													17	26					0	0	1	0	0
IGHA1	0	broad.mit.edu	37	14	106173685	106173685	+	RNA	SNP	C	C	T	rs71423287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106173685C>T	ENST00000390547.2	-	0	881																											GTATGCTGGTCACAGCGAAGG	0.657000													14	59					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123722524	123722524	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123722524A>G	ENST00000223642.1	-	38	4708		c.e38+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTGAACTCACCATATGCAA	0.323000													6	35					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106849576	106849576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106849576G>A	ENST00000369701.3	+	6	1299	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGCACATGGAGGTGCGGAC	0.557000													9	21					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85547045	85547045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85547045C>A	ENST00000294664.6	+	4	412	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	WDR63_ENST00000370596.1_Missense_Mutation_p.L78M|WDR63_ENST00000326813.8_Missense_Mutation_p.L78M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	78										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGAGGACCTGCGCAACAG	0.383000													49	105					2.84144e-21	3.73721e-21	1	1	0
TOP2A	7153	broad.mit.edu	37	17	38563914	38563914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38563914C>T	ENST00000423485.1	-	13	1671	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	505					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAATCTCAGCATTTTCCATG	0.303000													7	12					0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57888581	57888581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888581C>A	ENST00000282282.3	+	4	387	c.237C>A	c.(235-237)ccC>ccA	p.P79P	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAAAGCCCTGTCTATCTA	0.517000													4	49					0.00909568	0.00947522	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16335329	16335329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16335329C>T	ENST00000338560.7	+	12	2103	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.G138G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	568					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCTACAGGCCCCAATGCCA	0.647000													17	25					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73871043	73871043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73871043C>A	ENST00000254816.2	-	6	1464	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	TRIM47_ENST00000587339.1_Missense_Mutation_p.G242C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	480	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTAGGTGCCTCGGTCCAGG	0.622000													4	34					0.150653	0.152692	1	1	0
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000269185.4_Silent_p.A36A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393000													37	66					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43076716	43076716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43076716G>A	ENST00000428554.2	+	17	2594	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CCDC30_ENST00000340612.4_Missense_Mutation_p.R484H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R484H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R273H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R273H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	484										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAGCTCTACGTGAAGAATAT	0.358000													20	49					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48063522	48063522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48063522G>A	ENST00000397637.1	+	3	1069	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	PRMT2_ENST00000451211.2_Missense_Mutation_p.A39T|PRMT2_ENST00000397628.1_Missense_Mutation_p.A39T|PRMT2_ENST00000458387.2_Missense_Mutation_p.A39T|PRMT2_ENST00000291705.6_Missense_Mutation_p.A39T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A39T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A39T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A39T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A39T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	39	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGGCCATCGCGGACTACGC	0.537000													36	51					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26518101C>T	ENST00000407008.3	+	9	2009	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	431					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423000													25	49					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27844111	27844111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27844111A>G	ENST00000355467.4	+	14	1570	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	ZNF512_ENST00000556601.1_Missense_Mutation_p.Q365R|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q495R|ZNF512_ENST00000416005.2_Missense_Mutation_p.Q467R|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q419R|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AAGCGGAGGCAGCAGCACAGG	0.512000													16	60					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826274	42826274	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42826274C>T	ENST00000372970.2	-	6	477	c.297G>A	c.(295-297)gcG>gcA	p.A99A	OSER1_ENST00000255174.2_Silent_p.A99A					oxidative stress responsive serine-rich 1																		TGGAAGAAGACGCTATTGTAC	0.493000													29	49					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101894964	101894964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101894964G>T	ENST00000374994.4	+	3	634	c.517G>T	c.(517-519)Gag>Tag	p.E173*	TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E177*|TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E104*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	173					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTTATTTCAGAGGGTACTAC	0.398000													5	112					3.59834e-05	4.01776e-05	1	1	0
NT5M	56953	broad.mit.edu	37	17	17250164	17250164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17250164G>A	ENST00000389022.4	+	5	806	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	197					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCACCGCCTGCCACAACCAG	0.682000													4	23					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65109026	65109026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65109026C>T	ENST00000528416.1	+	4	591	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DPF2_ENST00000252268.4_Missense_Mutation_p.A153V|DPF2_ENST00000415073.2_Missense_Mutation_p.A153V|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	153					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AACAGTCGAGCGCGAAAGGTA	0.562000													9	23					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141711023	141711023	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141711023A>G	ENST00000522684.1	-	26	2695	c.2466T>C	c.(2464-2466)gaT>gaC	p.D822D	PTK2_ENST00000340930.3_Silent_p.D822D|PTK2_ENST00000430260.2_Silent_p.D132D|PTK2_ENST00000519419.1_Silent_p.D866D|PTK2_ENST00000521059.1_Silent_p.D822D|PTK2_ENST00000535192.1_Silent_p.D776D|PTK2_ENST00000517887.1_Silent_p.D866D|PTK2_ENST00000395218.2_Silent_p.D822D|PTK2_ENST00000538769.1_Silent_p.D490D|PTK2_ENST00000519465.1_Silent_p.D450D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	822	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCGCTGATCTTCTTCCA	0.438000													31	58					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939703	89939703	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89939703G>T	ENST00000405460.2	+	14	2733	c.2637G>T	c.(2635-2637)acG>acT	p.T879T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAATATAACGATTCTGAAAA	0.403000													8	12					3.09899e-07	3.63227e-07	1	1	0
CHEK1	1111	broad.mit.edu	37	11	125497521	125497521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125497521A>G	ENST00000534070.1	+	3	340	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CHEK1_ENST00000438015.1_Missense_Mutation_p.R29G|CHEK1_ENST00000278916.3_Missense_Mutation_p.R29G|CHEK1_ENST00000524737.1_Missense_Mutation_p.R29G|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000428830.2_Missense_Mutation_p.R29G|CHEK1_ENST00000544373.1_Missense_Mutation_p.R29G|CHEK1_ENST00000532449.1_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	29	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGCTGTGAATAGAGTAACTGA	0.338000								Other conserved DNA damage response genes					6	48					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11550472	11550472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11550472G>A	ENST00000262442.3	+	12	2122	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R685H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	685	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R685H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTCTAAAACGTGACCCAGAG	0.458000													5	108					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319744	78319744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78319744C>T	ENST00000582970.1	+	29	7752	c.7609C>T	c.(7609-7611)Cgt>Tgt	p.R2537C	RNF213_ENST00000336301.6_Missense_Mutation_p.R610C|RNF213_ENST00000508628.2_Missense_Mutation_p.R2586C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGATCTGCCGTTTGGAGTC	0.562000													20	42					0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002075	47002075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47002075G>T	ENST00000377811.3	-	2	1100	c.276C>A	c.(274-276)ttC>ttA	p.F92L	NDUFB11_ENST00000276062.8_Missense_Mutation_p.F92L	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	92					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGACGCCAAAGAAGAAGACAA	0.537000													6	59					1.6384e-10	2.02096e-10	1	1	0
GSTCD	79807	broad.mit.edu	37	4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453000													50	81					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2940711	2940711	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2940711C>A	ENST00000261596.4	-	5	829		c.e5-1			NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGAAGATCCTCTGTGAAGGAG	0.408000													10	31					7.48243e-07	8.70085e-07	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33623537	33623537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33623537G>A	ENST00000404816.2	+	34	5444	c.5091G>A	c.(5089-5091)gtG>gtA	p.V1697V	LTBP1_ENST00000402934.1_Silent_p.V1316V|LTBP1_ENST00000404525.1_Silent_p.V1318V|LTBP1_ENST00000354476.3_Silent_p.V1698V|LTBP1_ENST00000272273.5_Silent_p.V595V|LTBP1_ENST00000390003.4_Silent_p.V1372V|LTBP1_ENST00000407925.1_Silent_p.V1371V|LTBP1_ENST00000418533.2_Silent_p.V1329V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1697	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGCTACGTGCCTTCTGACA	0.463000													20	33					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10353769	10353769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10353769G>A	ENST00000397117.1	-	5	879	c.288C>T	c.(286-288)tgC>tgT	p.C96C	SEC13_ENST00000337354.4_Silent_p.C113C|SEC13_ENST00000383801.2_Silent_p.C156C|SEC13_ENST00000350697.3_Silent_p.C110C|SEC13_ENST00000397109.3_Silent_p.C96C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	110					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGGGGCCCAGCACACCGAGT	0.592000													4	6					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067299	37067299	+	Missense_Mutation	SNP	C	C	A	rs63751015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37067299C>A	ENST00000231790.2	+	12	1426	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	MLH1_ENST00000435176.1_Missense_Mutation_p.L306M|MLH1_ENST00000458205.2_Missense_Mutation_p.L163M|MLH1_ENST00000455445.2_Missense_Mutation_p.L163M|MLH1_ENST00000539477.1_Missense_Mutation_p.L163M|MLH1_ENST00000536378.1_Missense_Mutation_p.L163M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	404					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGCAAACCCCTGTCCAGTCA	0.517000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	85					5.18039e-06	5.91835e-06	1	1	0
ARID5B	84159	broad.mit.edu	37	10	63817058	63817058	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63817058C>T	ENST00000279873.7	+	6	1439	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	ARID5B_ENST00000309334.5_Silent_p.P100P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	343	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGAATACCCTATTTAGGTT	0.373000													29	78					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390799	107390799	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390799C>T	ENST00000429433.2	-	5	2245	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	BEND3_ENST00000369042.1_Silent_p.V532V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	532										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGATGGGCACCAGCCAGA	0.622000													18	27					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692400	117692400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117692400C>T	ENST00000223795.2	-	1	297	c.184G>A	c.(184-186)Gtt>Att	p.V62I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	62					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCTCTGAACGACCAACACC	0.507000													26	67					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223787865	223787865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223787865C>T	ENST00000357430.3	+	10	1681	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	ACSL3_ENST00000392066.3_Missense_Mutation_p.P384S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	384					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCAGCAGTTCCGGTAAGAAG	0.333000			T	ETV1	prostate								15	19					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87207962	87207962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87207962C>T	ENST00000370558.4	+	8	1157	c.833C>T	c.(832-834)gCg>gTg	p.A278V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A178V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A299V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	278					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTACCAAATGCGATTGGTTCT	0.428000													29	83					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33195514	33195514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33195514C>T	ENST00000309558.3	-	5	1027	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	204					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATGTGTGCCTCAGCCTCA	0.448000													9	14					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97705802	97705802	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97705802C>T	ENST00000472788.1	-	0	1130					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GCTTGAACTGCATCAATATTG	0.338000													6	4					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52181338	52181338	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52181338T>G	ENST00000308580.7	+	5	773	c.492T>G	c.(490-492)ttT>ttG	p.F164L	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.F164L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	164						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAACATTTTTCAAGTGAGT	0.299000													21	34					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399343	46399343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46399343G>A	ENST00000292301.4	+	2	810	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	CCR2_ENST00000400888.2_Missense_Mutation_p.G109R|CCR2_ENST00000445132.2_Missense_Mutation_p.G109R|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	109					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGTCTTTGGGAATGCAAT	0.443000													8	282					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37841824	37841824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37841824C>T	ENST00000381967.4	+	6	762	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PGM2_ENST00000544359.1_Missense_Mutation_p.P82L|PGM2_ENST00000537241.1_Missense_Mutation_p.P61L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	221					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCCACAATCCGAGTGCTTCC	0.393000													8	94					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101474341	101474341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101474341C>T	ENST00000341893.3	+	7	1548	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	CEP97_ENST00000494050.1_Missense_Mutation_p.L266F|CEP97_ENST00000327230.4_Missense_Mutation_p.L266F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	266						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCACATCCAGCTTGTCCAATA	0.473000													17	36					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288729	114288729	+	Silent	SNP	G	G	A	rs72544142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114288729G>A	ENST00000357077.4	+	42	11093	c.11040G>A	c.(11038-11040)tcG>tcA	p.S3680S	ANK2_ENST00000510275.2_Silent_p.S247S|ANK2_ENST00000264366.6_Silent_p.S3647S|ANK2_ENST00000509550.1_Silent_p.S771S|ANK2_ENST00000394537.3_Silent_p.S1595S|ANK2_ENST00000506722.1_Silent_p.S1586S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3647					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGGGTTCTCGGTACTTCAAG	0.363000													21	44					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3620083C>T	ENST00000263087.4	-	30	3441	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1115					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408000													27	52					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26750113	26750113	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26750113G>T	ENST00000264866.4	+	19	1678	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R402I	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	467	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATGGGATAGAATCCTAGGA	0.368000													36	92					6.97489e-18	9.07097e-18	1	1	0
TH	7054	broad.mit.edu	37	11	2185527	2185527	+	Missense_Mutation	SNP	C	C	T	rs78426052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2185527C>T	ENST00000381178.1	-	14	1541	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	TH_ENST00000352909.3_Missense_Mutation_p.R477H|TH_ENST00000333684.5_Missense_Mutation_p.R387H|TH_ENST00000381175.1_Missense_Mutation_p.R504H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGGGAGCGCCGCACGGC	0.672000													26	18					0	0	1	0	0
ITGA6	0	broad.mit.edu	37	2	173344431	173344431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173344431G>A	ENST00000375221.2	+	11	1771	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ITGA6_ENST00000264106.6_Missense_Mutation_p.R523H|ITGA6_ENST00000264107.7_Missense_Mutation_p.R484H|ITGA6_ENST00000409532.1_Missense_Mutation_p.R365H|ITGA6_ENST00000409080.1_Missense_Mutation_p.R484H|ITGA6_ENST00000343713.4_Missense_Mutation_p.R479H			P23229	ITA6_HUMAN	integrin, alpha 6	523					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTGACCTCCGCCAGAAAACA	0.498000													75	109					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30776312C>T	ENST00000324685.6	+	6	1138	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RNF40_ENST00000563683.1_Missense_Mutation_p.R235C|RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647000													10	30					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319000	70319000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319000C>T	ENST00000338508.4	-	33	5526	c.5527G>A	c.(5527-5529)Gct>Act	p.A1843T	SHANK2_ENST00000423696.2_Missense_Mutation_p.A1463T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1247T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1246T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1463					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTTTCAAAGCCCTTTCTATG	0.502000													36	101					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99762037	99762037	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99762037G>A	ENST00000394132.2	-	6	1030	c.213C>T	c.(211-213)tgC>tgT	p.C71C	TTC23_ENST00000558613.1_Silent_p.C71C|TTC23_ENST00000394130.1_Silent_p.C71C|TTC23_ENST00000394136.1_Silent_p.C71C|TTC23_ENST00000394129.2_Silent_p.C71C|TTC23_ENST00000558663.1_Silent_p.C71C|TTC23_ENST00000394135.3_Silent_p.C71C|TTC23_ENST00000262074.4_Silent_p.C71C			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	71							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAGTGCTACGCAACGCACAA	0.448000													17	22					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766032	18766032	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18766032G>T	ENST00000304081.4	-	4	571	c.471C>A	c.(469-471)gcC>gcA	p.A157A	NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A|NT5C1B_ENST00000359846.2_Silent_p.A217A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGATGCCTTGGGCCCAGGCCT	0.692000													5	10					0.000602214	0.000649039	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996860	20996860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20996860C>T	ENST00000261383.3	-	48	7203	c.7204G>A	c.(7204-7206)Gcc>Acc	p.A2402T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2402	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGGGGCCTTGCTGATG	0.507000													31	57					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29755866	29755866	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29755866A>G	ENST00000357586.2	-	4	412	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	AP1B1_ENST00000402502.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y76H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y76H	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	76					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGGCGTAATTCATCAAG	0.527000											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	67					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176833575G>A	ENST00000367654.2	-	23	3767	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1244W|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1252					cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567000													27	29					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125889636	125889636	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125889636G>A	ENST00000392693.3	-	4	501	c.374C>T	c.(373-375)aCa>aTa	p.T125I	CDON_ENST00000263577.7_Missense_Mutation_p.T125I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	125	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AACATGCTTTGTGGATGAACC	0.368000													22	50					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788715	5788715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788715C>A	ENST00000328090.5	+	15	3956	c.3331C>A	c.(3331-3333)Ccc>Acc	p.P1111T		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1111																	GAGGGACATTCCCTCTCTAGT	0.468000													53	69					1.63038e-21	2.14664e-21	1	1	0
PFAS	5198	broad.mit.edu	37	17	8158983	8158983	+	Missense_Mutation	SNP	C	C	T	rs139148307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8158983C>T	ENST00000314666.6	+	5	681	c.548C>T	c.(547-549)gCg>gTg	p.A183V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	183					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCGGCTTGCGCTGGAGAAG	0.592000													12	11					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49044189	49044189	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49044189T>A	ENST00000343546.4	+	9	1909	c.1541T>A	c.(1540-1542)aTt>aAt	p.I514N	P4HTM_ENST00000383729.4_Missense_Mutation_p.I453N	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	453						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCAAGTGGATTGCCAACAAC	0.627000													12	16					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43389157	43389157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389157G>A	ENST00000296088.7	+	7	1710	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	SNRK_ENST00000454177.1_Missense_Mutation_p.R469Q|SNRK_ENST00000437827.1_Missense_Mutation_p.R263Q|SNRK_ENST00000429705.2_Missense_Mutation_p.R469Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	469					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTTTTGCGCCGGAAGCCATCT	0.527000													8	65					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4352926	4352926	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4352926G>A	ENST00000599840.1	+	4	599	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MPND_ENST00000262966.8_Silent_p.L188L|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000359935.4_Silent_p.L188L			Q8N594	MPND_HUMAN	MPN domain containing	188							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggagttgctgatggaag	0.652000													8	24					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463908	50463908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463908C>T	ENST00000447370.2	-	2	451	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCTCTGCGCGTCTCTGATC	0.542000													13	24					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62658381	62658381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62658381G>T	ENST00000535781.1	+	15	2066	c.1955G>T	c.(1954-1956)aGg>aTg	p.R652M	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	692					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACAACATCAGGGCAGCCCAA	0.572000													16	37					3.52763e-06	4.04633e-06	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7725423	7725423	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7725423G>T	ENST00000507866.2	+	19	2533		c.e19-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCTCTGCAGGGTGATGTCC	0.557000													7	101					0.307466	0.308846	1	1	0
MCM5	4174	broad.mit.edu	37	22	35819225	35819225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35819225G>A	ENST00000216122.4	+	16	2148	c.1994G>A	c.(1993-1995)aGc>aAc	p.S665N	MCM5_ENST00000382011.5_Missense_Mutation_p.S622N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	665					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTTCACCAGCCAGGAGGAC	0.602000													7	48					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125488335	125488335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125488335G>A	ENST00000392708.4	+	16	2001	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	STT3A_ENST00000529196.1_Silent_p.E614E|STT3A_ENST00000531491.1_Silent_p.E522E	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	614					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATCAAGGAGAATGACTATT	0.438000													33	73					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61734852C>T	ENST00000273550.7	-	1	280	c.46G>A	c.(46-48)Gac>Aac	p.D16N	FTH1_ENST00000529191.1_Missense_Mutation_p.D16N|FTH1_ENST00000529631.1_Missense_Mutation_p.D16N|FTH1_ENST00000526640.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697000													8	5					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211469970	211469970	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211469970G>T	ENST00000233072.5	+	17	2177	c.1981_splice	c.e17+1	p.G661_splice	CPS1_ENST00000451903.2_Splice_Site_p.G210_splice|CPS1_ENST00000430249.2_Splice_Site_p.G667_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	661	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGTTCACACAGGTAGGCAAAG	0.373000													7	91					2.0095e-06	2.31757e-06	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133854893	133854893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854893A>C	ENST00000395386.2	+	19	2820	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.N816H|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.N228H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	841							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATATGTACAGAACCATAAAGA	0.383000													17	32					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34078053	34078053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34078053G>A	ENST00000389232.4	+	66	9529	c.9459G>A	c.(9457-9459)ctG>ctA	p.L3153L	RYR3_ENST00000415757.3_Silent_p.L3153L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCA	0.567000													11	180					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430754	78430754	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78430754T>G	ENST00000370767.1	-	8	722	c.636_splice	c.e8+1	p.Q212_splice	FUBP1_ENST00000370768.2_Splice_Site_p.Q212_splice|FUBP1_ENST00000436586.2_Splice_Site_p.Q233_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	212	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACAATACCTGAAGCTGTTT	0.363000			"""F, N"""		oligodendroglioma								11	202					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700137	164700137	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164700137C>A	ENST00000264382.3	-	47	5371	c.5309G>T	c.(5308-5310)gGa>gTa	p.G1770V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1770	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGAAGGGATCCAAGCCTCGT	0.343000										HNSCC(35;0.089)			17	37					0.00400662	0.00423533	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79317730	79317730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79317730G>A	ENST00000419573.3	-	10	1742	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R490*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	490	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCACTGTCGCTCGCCCTCT	0.557000													47	68					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49190103	49190103	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190103G>T	ENST00000406846.2	-	10	1976	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	FSHR_ENST00000541117.1_Silent_p.S355S|FSHR_ENST00000346173.3_Silent_p.S557S|FSHR_ENST00000304421.4_Silent_p.S593S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	619					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGTTGGCACAGGAGTTGATGG	0.473000									Gonadal Dysgenesis, 46 XX				23	22					2.27731e-05	2.56123e-05	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158454972	158454972	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158454972T>C	ENST00000409339.3	-	16	2016	c.1903A>G	c.(1903-1905)Aga>Gga	p.R635G	NCAPG2_ENST00000356309.3_Missense_Mutation_p.R635G|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R427G|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R635G|NCAPG2_ENST00000541468.1_Missense_Mutation_p.R136G|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R635G			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	635					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCCATACTTCTGTCAATACTT	0.353000													4	76					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:107096457G>T	ENST00000261058.1	+	1	270	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398000													15	68					1.62849e-17	2.11374e-17	1	1	0
NID2	22795	broad.mit.edu	37	14	52535644	52535644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52535644C>T	ENST00000216286.5	-	1	68	c.69G>A	c.(67-69)ttG>ttA	p.L23L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	23						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAACATTAGCAACGGCAGCA	0.687000													5	35					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105930811	105930811	+	Silent	SNP	C	C	T	rs139203829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105930811C>T	ENST00000331320.7	+	14	1465	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	MTA1_ENST00000405646.1_Silent_p.C400C|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Silent_p.C417C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	417					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCGTCTCTGCGCATCTTGTT	0.483000													34	34					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738674	12738674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738674C>T	ENST00000343325.4	+	4	493	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79C|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGCCTTCATGCGTCTCTCATC	0.423000													42	85					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143922552	143922552	+	Missense_Mutation	SNP	G	G	A	rs45437692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143922552G>A	ENST00000220940.1	+	3	182	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	31	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTTTGAGATGCCATGACTGT	0.478000													25	43					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458000													54	93					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271833	37271833	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37271833G>A	ENST00000373091.3	-	14	2202	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A729V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	729					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCGTCAGGGCCCTCTGGAT	0.597000													24	54					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64148459	64148459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64148459C>A	ENST00000354504.3	-	10	1880	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	VPS54_ENST00000272322.4_Missense_Mutation_p.D584Y|VPS54_ENST00000409558.3_Missense_Mutation_p.D572Y			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	584					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AATTTCATATCTTCACTGACC	0.343000													6	43					3.59834e-05	4.01776e-05	1	1	0
RPL31P11	0	broad.mit.edu	37	1	161654774	161654774	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161654774C>A	ENST00000426558.1	-	0	268					NR_002595.1																						CATTCTTATTCCTTTGGCCCA	0.473000													3	21					2.56e-06	2.9446e-06	1	1	0
KDM5A	5927	broad.mit.edu	37	12	459813	459813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:459813G>A	ENST00000399788.2	-	10	1644	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R428W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	428					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTTCTCCGCCCATCCTTC	0.428000			T	NUP98	AML								23	49					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18889718G>A	ENST00000380548.4	+	25	4954	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGCCCATCGCGTGCAACCG	0.667000													9	11					0	0	1	0	0
RPP21	79897	broad.mit.edu	37	6	30313002	30313002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30313002C>A	ENST00000428040.2	+	1	67	c.54C>A	c.(52-54)taC>taA	p.Y18*	TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000436442.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000442966.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Nonsense_Mutation_p.Y18*					ribonuclease P/MRP 21kDa subunit											endometrium(2)|ovary(1)|prostate(1)	4						ACTTCCTGTACCAGGTGAGTC	0.711000													4	4					0.00909568	0.00947522	1	1	0
AGFG2	3268	broad.mit.edu	37	7	100160220	100160220	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100160220C>A	ENST00000300176.4	+	8	1124	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	334					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTAGCCTCTTCGGGATGG	0.642000													5	39					0.0215528	0.0221649	1	1	0
EDF1	8721	broad.mit.edu	37	9	139758285	139758285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139758285C>A	ENST00000371648.4	-	2	124	c.117G>T	c.(115-117)gaG>gaT	p.E39D	EDF1_ENST00000371649.1_Missense_Mutation_p.E39D|EDF1_ENST00000224073.1_Missense_Mutation_p.E39D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	39	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTTGGAAGTCTCCACATCTT	0.507000													7	62					5.18039e-06	5.91835e-06	1	1	0
TAF6	6878	broad.mit.edu	37	7	99711303	99711303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99711303C>A	ENST00000344095.4	-	4	858	c.333G>T	c.(331-333)gaG>gaT	p.E111D	TAF6_ENST00000472509.1_Missense_Mutation_p.E168D|TAF6_ENST00000418432.2_Missense_Mutation_p.E54D|TAF6_ENST00000452041.1_Missense_Mutation_p.E111D|TAF6_ENST00000437822.2_Missense_Mutation_p.E148D|TAF6_ENST00000453269.2_Missense_Mutation_p.E111D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	111					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGATCAACCTCCTTCTCCT	0.612000													4	74					0.00909568	0.00947522	1	1	0
CSNK2A1	1457	broad.mit.edu	37	20	469369	469369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:469369G>A	ENST00000217244.3	-	11	1152	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CSNK2A1_ENST00000349736.5_Silent_p.D259D|CSNK2A1_ENST00000400227.3_Silent_p.D259D|CSNK2A1_ENST00000400217.1_Silent_p.D123D	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	259	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGTTGTATTTGTCAATATAGT	0.348000													15	85					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7212972	7212972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7212972G>A	ENST00000361972.4	-	20	2552	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P821L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	821					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACTCCAACGGGTTGCTCTC	0.592000													32	79					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190778	62190778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62190778C>T	ENST00000371177.2	-	1	27	c.15G>A	c.(13-15)tgG>tgA	p.W5*	TM2D1_ENST00000294613.5_Nonsense_Mutation_p.W5*|TM2D1_ENST00000371180.2_Nonsense_Mutation_p.W67*|TM2D1_ENST00000606498.1_Nonsense_Mutation_p.W5*			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						GACCAGACGGCCAGGCGGCCG	0.652000													17	28					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546780	129546780	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546780G>T	ENST00000305536.6	+	6	991	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	309	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACGCTCCCGGGAGCGGGAGT	0.458000													18	44					1.96292e-10	2.41709e-10	1	1	0
BCL2L10	10017	broad.mit.edu	37	15	52402056	52402056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52402056G>A	ENST00000260442.3	-	2	652	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BCL2L10_ENST00000561198.1_Missense_Mutation_p.T225M	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	192					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CATAATAATCGTGTCCAGAGA	0.433000													102	151					0	0	1	0	0
SGK196	0	broad.mit.edu	37	8	42977492	42977492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42977492G>A	ENST00000331373.5	+	5	780	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		175	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										TGAACACGTGGCAGCACAGGC	0.493000													16	22					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91731665	91731665	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91731665C>A	ENST00000370425.3	-	36	3982		c.e36-1		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373000													7	77					0.00198382	0.00210581	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90833185	90833185	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90833185G>A	ENST00000394980.1	+	4	1153	c.834G>A	c.(832-834)ccG>ccA	p.P278P	MMRN1_ENST00000394981.1_Silent_p.P244P|MMRN1_ENST00000264790.2_Silent_p.P278P|MMRN1_ENST00000508372.1_Silent_p.P20P			Q13201	MMRN1_HUMAN	multimerin 1	278	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTGGGCCGAAATGTCAAC	0.363000													14	27					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292663	62292663	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292663C>A	ENST00000378024.4	-	5	9500	c.9226G>T	c.(9226-9228)Ggt>Tgt	p.G3076C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3076					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTGGGACCTTTCAACTTT	0.478000													13	219					4.3838e-07	5.12524e-07	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106937890	106937890	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656						integral to membrane	neuropeptide receptor activity	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473000													14	21					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74344360	74344360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74344360G>T	ENST00000263665.6	-	18	2456	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	810	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTATTTGCAGAGACTTGAGA	0.373000													23	32					2.32416e-17	3.01417e-17	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5078081	5078081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5078081G>A	ENST00000312251.3	-	6	1045	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.D342D	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	342					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCAGTGCCCGTCCACGCAGG	0.672000													4	12					0	0	1	0	0
ZNF674	641339	broad.mit.edu	37	X	46360572	46360572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46360572C>A	ENST00000523374.1	-	6	662	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF674_ENST00000414387.2_Missense_Mutation_p.R145M	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTTTGAACACCTTTCCCATGA	0.308000													3	31					0.115264	0.117355	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142460314	142460314	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142460314G>A	ENST00000486171.1	+	5	546	c.529G>A	c.(529-531)Gct>Act	p.A177T	PRSS1_ENST00000311737.7_Missense_Mutation_p.A163T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	163	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGCCTGGATGCTCCTGTGCT	0.522000													57	363					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120450	21120450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21120450G>C	ENST00000377122.4	-	15	1908	c.1512C>G	c.(1510-1512)gaC>gaG	p.D504E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	504					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCAAGAGTGTCTGTGCTCA	0.418000													3	52					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15298412	15298412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15298412G>A	ENST00000383791.3	-	8	1318	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SH3BP5_ENST00000426925.1_Silent_p.G209G|SH3BP5_ENST00000408919.3_Silent_p.G209G|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.G209G	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	366	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CACTTCGAGGGCCCAACACTG	0.597000													11	17					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250788	24250788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24250788C>T	ENST00000256412.4	+	3	441	c.221C>T	c.(220-222)cCt>cTt	p.P74L	ADAMDEC1_ENST00000538205.1_5'UTR|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	74					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGTATGAACCTGAAGTTCAA	0.284000													12	36					0	0	1	0	0
PCDHGB7	0	broad.mit.edu	37	5	140797471	140797471	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140797471G>T	ENST00000398594.2	+	1	45	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gcccgcggcAGGTACTATTTC	0.642000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0.004672	0.0049138	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86954716	86954716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86954716T>G	ENST00000234701.3	+	9	1571	c.1220T>G	c.(1219-1221)aTt>aGt	p.I407S	CLCA1_ENST00000394711.1_Missense_Mutation_p.I407S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	407	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATCTGAAATTGTGCTGCTG	0.448000													6	109					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64887632	64887632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64887632C>T	ENST00000231524.9	-	11	2060	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	TRIM23_ENST00000381018.3_Intron|TRIM23_ENST00000274327.7_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	563	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTACAAGTTGCCGTGAGAGCC	0.428000													22	38					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458647	61458647	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61458647G>A	ENST00000343916.3	+	16	849		c.e16+1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGTGACCTCGTAAGTGAGAG	0.597000													20	23					0	0	1	0	0
HCP5	0	broad.mit.edu	37	6	31431688	31431688	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31431688C>A	ENST00000414046.2	+	0	760					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						atgcctcctcctggggatcag	0.582000													40	48					6.5261e-18	8.49029e-18	1	1	0
FER	2241	broad.mit.edu	37	5	108134082	108134082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108134082G>A	ENST00000281092.4	+	3	583	c.199G>A	c.(199-201)Gta>Ata	p.V67I	FER_ENST00000536402.1_Missense_Mutation_p.V67I|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	67	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTCAGCAACGTATCCAAGGT	0.294000													16	29					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28906606	28906606	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28906606G>T	ENST00000523613.1	+	9	1498	c.1166G>T	c.(1165-1167)aGc>aTc	p.S389I	HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000444075.1_Intron|HMBOX1_ENST00000397358.3_Intron|HMBOX1_ENST00000558662.1_Intron|HMBOX1_ENST00000517386.1_Intron|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000287701.10_Intron|HMBOX1_ENST00000524238.1_Intron			Q6NT76	HMBX1_HUMAN	homeobox containing 1	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGTGCCTGAGCAGGGGGTAT	0.582000													13	17					1.61879e-10	1.99744e-10	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113379797	113379797	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113379797G>A	ENST00000316407.4	-	7	1142	c.732C>T	c.(730-732)agC>agT	p.S244S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S244S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	244					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CATTTGATTCGCTTTCAGAGG	0.473000													18	20					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179057219	179057219	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179057219T>C	ENST00000367627.3	+	4	1565	c.813T>C	c.(811-813)ttT>ttC	p.F271F	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F271F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	271					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCTTTCTGTTTCTCAGGTGGG	0.597000													32	66					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637000													19	34					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284747	62284747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62284747C>T	ENST00000378024.4	-	5	17416	c.17142G>A	c.(17140-17142)atG>atA	p.M5714I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5714					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTGGGCATTTTGATCT	0.463000													46	77					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68514826	68514826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68514826G>T	ENST00000443940.2	-	3	566	c.480C>A	c.(478-480)atC>atA	p.I160I	MTL5_ENST00000255087.5_Silent_p.I160I|MTL5_ENST00000544963.1_Silent_p.I160I|MTL5_ENST00000540869.1_5'UTR			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	160					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGCTTCCTTGATTTCAACCT	0.393000													6	57					3.59834e-05	4.01776e-05	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32563100	32563100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32563100C>T	ENST00000345122.3	+	2	3540	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ARHGAP5_ENST00000539826.2_Silent_p.S1075S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S1075S|ARHGAP5_ENST00000556611.1_Silent_p.S1075S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1075					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAGACTTCCCGGGTGCCTT	0.383000													30	60					0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42927340	42927340	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42927340T>C	ENST00000529687.1	+	5	958	c.70T>C	c.(70-72)Tta>Cta	p.L24L	FNTA_ENST00000342116.4_Silent_p.L108L|RP11-598P20.5_ENST00000534420.1_Silent_p.L132L|FNTA_ENST00000302279.3_Silent_p.L175L			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	175	Pro-rich.				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TAGGCGAGTATTAGTGGAATG	0.383000													4	159					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_ENST00000394443.4_Missense_Mutation_p.E71K|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383000													6	63					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88725119	88725119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88725119C>T	ENST00000301012.3	-	2	109	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCTTCATCGCGCTTGCCCCC	0.637000													4	8					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404542	134404542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404542C>T	ENST00000372215.4	-	4	574	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCK1_ENST00000372210.3_Missense_Mutation_p.D152N|UCK1_ENST00000372211.3_Missense_Mutation_p.D166N|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Missense_Mutation_p.D161N	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	161					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACGTCGGAGTCGGTGTCCACG	0.647000													15	14					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72090136	72090136	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72090136A>G	ENST00000355906.5	+	2	140	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	HP_ENST00000398131.2_Missense_Mutation_p.I28V|HP_ENST00000565574.1_Missense_Mutation_p.I28V|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I28V|HP_ENST00000562526.1_Missense_Mutation_p.I28V|HP_ENST00000569639.1_Missense_Mutation_p.I28V	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	28					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGTCACGGATATCGCAGGTCA	0.552000													31	41					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107073523	107073523	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073523C>T	ENST00000409886.3	-	4	396	c.309G>A	c.(307-309)ttG>ttA	p.L103L	RGPD3_ENST00000304514.7_Silent_p.L103L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	103					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTACAAAGCAATTCTGCAA	0.328000													6	136					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424591	56424591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56424591G>A	ENST00000588751.1	-	5	616	c.592C>T	c.(592-594)Cct>Tct	p.P198S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P198S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	198							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCTTTAGGCCAACTGATG	0.483000													66	81					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185731	20185731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20185731G>A	ENST00000379565.3	-	17	1785	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	RPS6KA3_ENST00000540702.1_Silent_p.T497T|RPS6KA3_ENST00000544447.1_Silent_p.T498T|RPS6KA3_ENST00000379548.4_Silent_p.T496T|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	526	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATATTCAACGGTTTTAGTTA	0.353000													83	171					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951134	119951134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951134C>T	ENST00000307142.4	+	4	1400	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	402	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGCGACGTCGGAGGGCCAG	0.507000													29	54					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126625	37126625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37126625G>T	ENST00000336755.5	+	2	402	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S98I|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	99							nucleic acid binding|zinc ion binding	p.S99T(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GATGAAGACAGTATTTATAGA	0.383000													17	191					9.16793e-09	1.10245e-08	1	1	0
FPR2	2358	broad.mit.edu	37	19	52272593	52272593	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52272593A>C	ENST00000598776.1	+	2	1454	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	FPR2_ENST00000340023.6_Missense_Mutation_p.I228L|FPR2_ENST00000598953.1_Missense_Mutation_p.I228L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	228					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCAGCCAAGATCCACAAAAA	0.493000													23	24					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172623	94172623	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172623T>C	ENST00000297689.3	-	2	788	c.394A>G	c.(394-396)Aca>Gca	p.T132A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	132					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCATATGCTGTGGAGCTAATT	0.378000													45	58					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912265	53912265	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912265G>T	ENST00000396408.3	+	4	1574	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACCATCATAGACTTCATACT	0.378000													8	73					5.18039e-06	5.91835e-06	1	1	0
TRA2A	29896	broad.mit.edu	37	7	23545428	23545428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545428G>A	ENST00000297071.4	-	7	991	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRA2A_ENST00000538367.1_Nonsense_Mutation_p.R158*|TRA2A_ENST00000392502.4_Splice_Site_p.R157_splice	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	259	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GAAGGTGATCGTCTTCTGTAA	0.333000													61	46					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78390415	78390415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78390415G>A	ENST00000328828.5	+	3	411	c.411G>A	c.(409-411)atG>atA	p.M137I	SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	137	SH2.		M -> T (in dbSNP:rs2289524).							endometrium(2)|kidney(2)|lung(3)	7						TCAAAGAGATGCTGACTGCTG	0.622000													3	12					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13775826	13775826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13775826C>T	ENST00000380567.1	+	15	1911	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	OFD1_ENST00000340096.6_Missense_Mutation_p.R487W|OFD1_ENST00000380550.3_Missense_Mutation_p.R447W|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	487					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAAGAACTACGGAAAGCCGA	0.428000													25	38					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893176	23893176	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893176G>A	ENST00000355349.3	-	23	3024	c.2862C>T	c.(2860-2862)atC>atT	p.I954I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	954					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGATCATCGATGTCCCTTT	0.537000													40	41					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28511820	28511820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28511820A>G	ENST00000247026.5	+	7	868	c.805A>G	c.(805-807)Agg>Ggg	p.R269G	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	269					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAACTGCAGAAGGGAAAAGGT	0.468000													3	39					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101611353	101611353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101611353C>A	ENST00000375011.3	+	10	1725	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	RP11-92C4.3_ENST00000589257.1_RNA|GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	575	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAATGGTTCTTCAAAGAGC	0.498000											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	29					8.00594e-06	9.12844e-06	1	1	0
TBX1	6899	broad.mit.edu	37	22	19751680	19751680	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751680A>G	ENST00000332710.4	+	5	644	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	TBX1_ENST00000359500.3_Missense_Mutation_p.Y172C|TBX1_ENST00000329705.7_Missense_Mutation_p.Y172C	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCTCCAGGTACGCCTTCCAC	0.672000													4	15					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286711	62286711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62286711C>T	ENST00000378024.4	-	5	15452	c.15178G>A	c.(15178-15180)Gta>Ata	p.V5060I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5060					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACATCTACATCCGGAGCC	0.453000													11	235					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87474066	87474066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87474066G>A	ENST00000517970.1	+	24	2967	c.2660G>A	c.(2659-2661)aGc>aAc	p.S887N	WWP1_ENST00000341922.2_Missense_Mutation_p.S757N|WWP1_ENST00000265428.4_Missense_Mutation_p.S887N|WWP1_ENST00000349423.2_Missense_Mutation_p.S669N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	887	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTACCAAGAAGCCATACATGG	0.348000													34	54					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659531	145659531	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145659531G>A	ENST00000409379.3	-	21	3246	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1073					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCAGCTCCCGGAGTGCTGTG	0.697000													3	12					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599399	57599399	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599399C>T	ENST00000243077.3	+	75	11995	c.11529C>T	c.(11527-11529)ggC>ggT	p.G3843G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3843	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCAAGGGCGGCCACCTCT	0.617000													20	39					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855492	183855492	+	Silent	SNP	C	C	T	rs4496517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183855492C>T	ENST00000273783.3	+	3	527	c.405C>T	c.(403-405)ctC>ctT	p.L135L	EIF2B5_ENST00000444495.1_Silent_p.L135L|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	135					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGATGTCCTCCGTGATGTTG	0.483000													25	37					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72541718	72541718	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72541718T>G	ENST00000299290.1	-	4	505	c.116A>C	c.(115-117)aAa>aCa	p.K39T	TBATA_ENST00000456372.2_Missense_Mutation_p.K39T|TBATA_ENST00000545575.1_Missense_Mutation_p.K29T	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CACCAGTTCTTTCTGTGGCCC	0.592000													37	46					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248235	70248235	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70248235C>T	ENST00000265870.2	-	7	860	c.762G>A	c.(760-762)gcG>gcA	p.A254A	SLC25A16_ENST00000539557.1_Silent_p.A156A|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	254					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATATTGTCTGCGCTATTGCTC	0.343000													8	18					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635840	73635840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73635840C>T	ENST00000261917.3	-	2	2088	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	365					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTAGACCTCCGAGTCGATGC	0.512000													8	14					0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967480	125967480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967480C>A	ENST00000357147.3	+	1	67	c.54C>A	c.(52-54)tgC>tgA	p.C18*		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	18										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTAACAACTGCTCTGATGAGA	0.398000													26	54					9.57634e-11	1.18454e-10	1	1	0
AGAP1	116987	broad.mit.edu	37	2	236715915	236715915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236715915G>T	ENST00000409538.1	+	9	2281	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	AGAP1_ENST00000428334.2_Missense_Mutation_p.K169N|AGAP1_ENST00000409457.1_Missense_Mutation_p.K330N|AGAP1_ENST00000304032.7_Missense_Mutation_p.K330N|AGAP1_ENST00000336665.5_Missense_Mutation_p.K330N			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	330					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAAAGAGAAGAAAGGCCTGG	0.587000													7	108					1.12685e-05	1.27857e-05	1	1	0
KLHDC8B	200942	broad.mit.edu	37	3	49210220	49210220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49210220C>T	ENST00000332780.2	+	2	227	c.18C>T	c.(16-18)ggC>ggT	p.G6G	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	6						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAGGTGGCCGGGCCTTTG	0.612000													11	14					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121015	29121015	+	Missense_Mutation	SNP	C	C	T	rs121908701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121015C>T	ENST00000382580.2	-	5	746	c.671G>A	c.(670-672)cGt>cAt	p.R224H	CHEK2_ENST00000328354.6_Missense_Mutation_p.R181H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.R181H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R181H|CHEK2_ENST00000382566.1_Missense_Mutation_p.R181H|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.R181H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R181H	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	181	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATTCAAAGGACGGCGTTTTCC	0.353000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					19	51					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33468871	33468871	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33468871C>A	ENST00000379471.2	-	8	1114		c.e8-1		NOL6_ENST00000464829.1_Splice_Site|NOL6_ENST00000455041.2_Splice_Site			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCCTGGCCCTGAAAGAGAC	0.592000													48	102					2.27781e-18	2.96919e-18	1	1	0
SOX7	83595	broad.mit.edu	37	8	10583854	10583854	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583854G>A	ENST00000304501.1	-	2	639	c.561C>T	c.(559-561)ggC>ggT	p.G187G	SOX7_ENST00000553390.1_Silent_p.G239G|SOX7_ENST00000554914.1_Silent_p.G239G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	187					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGCCGCCGCCGCCACCAC	0.701000													10	7					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501583	12501583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12501583C>T	ENST00000419318.1	-	4	2282	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Nonsense_Mutation_p.W543*			Q96GE5	ZN799_HUMAN	zinc finger protein 799	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCAAGTGAGCCAAGAGAATG	0.398000													26	39					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89891699C>T	ENST00000435811.1	-	7	1277	c.823G>A	c.(823-825)Gct>Act	p.A275T	GABRR1_ENST00000454853.2_Missense_Mutation_p.A292T|GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCAGGGTAGCGGGGAAATAA	0.507000													31	49					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392297	78392297	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78392297G>A	ENST00000330010.8	+	6	792		c.e6+1		NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000457030.1_Splice_Site	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)						regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTAGTTATGGTAAATTTTTG	0.323000													84	59					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108163493	108163493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163493G>A	ENST00000278616.4	+	30	4969	c.4584G>A	c.(4582-4584)gtG>gtA	p.V1528V	ATM_ENST00000452508.2_Silent_p.V1528V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1528					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACCCCTTGTGTATGAGCAGG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			59	105					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600145	107600145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107600145C>T	ENST00000393561.1	-	17	2705	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	LAMB1_ENST00000393560.1_Missense_Mutation_p.G817R|LAMB1_ENST00000222399.6_Missense_Mutation_p.G817R			P07942	LAMB1_HUMAN	laminin, beta 1	817	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTGCATCCACTGGGGCCA	0.532000													12	34					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389624	19389624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389624C>T	ENST00000338883.4	-	23	3132	c.3133G>A	c.(3133-3135)Gtt>Att	p.V1045I	MAP3K15_ENST00000469203.2_Missense_Mutation_p.V877I|MAP3K15_ENST00000359173.3_Missense_Mutation_p.V480I|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1045							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGTGTCCAACTGAGAGATGC	0.483000													7	93					0	0	1	0	0
KNOP1	400506	broad.mit.edu	37	16	19725574	19725574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725574G>T	ENST00000219837.7	-	2	862	c.784C>A	c.(784-786)Cct>Act	p.P262T	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		GAGGCCTTAGGGTCATCACTT	0.483000													10	95					1.76689e-08	2.11513e-08	1	1	0
GOLGA8EP	0	broad.mit.edu	37	15	23441138	23441138	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23441138G>T	ENST00000526079.1	+	0	1217					NR_027407.1|NR_033350.1																						AGACGCTGGAGAGGAGCTTGT	0.567000													6	138					0.000673444	0.000724755	1	1	0
GABPB1	2553	broad.mit.edu	37	15	50570879	50570879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570879G>A	ENST00000380877.3	-	9	1525	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	GABPB1_ENST00000543881.1_Nonsense_Mutation_p.Q304*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.Q380*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	380					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCCAACTTCTGTCTGTAGGCC	0.383000													10	86					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126518046	126518046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126518046G>T	ENST00000298492.5	+	7	708	c.663_splice	c.e7+1	p.Q221_splice		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	221						BRISC complex	polyubiquitin binding			NS(1)	1						AGAAAGTTCAGGTAACTGATT	0.328000													6	53					5.9392e-07	6.91975e-07	1	1	0
SMG5	23381	broad.mit.edu	37	1	156228930	156228930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156228930G>A	ENST00000361813.5	-	16	2452	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	770					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAAAGCTGCGGATGCAGCAG	0.612000													19	22					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104068633	104068633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104068633T>C	ENST00000265148.3	-	29	4103	c.4014A>G	c.(4012-4014)caA>caG	p.Q1338Q	CENPE_ENST00000380026.3_Silent_p.Q1313Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1338					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGACTTTCTTGAAATTTTT	0.368000													3	92					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334157	25334157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25334157C>A	ENST00000407886.1	-	3	338	c.86G>T	c.(85-87)aGg>aTg	p.R29M	TMEM211_ENST00000423535.1_Missense_Mutation_p.R100M|TMEM211_ENST00000382744.1_Missense_Mutation_p.R29M			Q6ICI0	TM211_HUMAN	transmembrane protein 211	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGCTTCTCCTTGGGCACAG	0.532000													4	62					0.184627	0.186383	1	1	0
TTC39A	22996	broad.mit.edu	37	1	51787393	51787393	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51787393C>A	ENST00000262676.5	-	2	297	c.137_splice	c.e2+1	p.R46_splice	TTC39A_ENST00000413473.2_Splice_Site_p.R53_splice|TTC39A_ENST00000371750.5_Splice_Site_p.R50_splice|TTC39A_ENST00000451380.1_Splice_Site_p.R49_splice|TTC39A_ENST00000447632.2_Splice_Site_p.R50_splice|TTC39A_ENST00000371747.3_Splice_Site_p.R49_splice|TTC39A_ENST00000262675.7_Splice_Site_p.R22_splice			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	50							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGAGCCTCACCTGGGCTTGAG	0.582000													8	19					0.00621372	0.00652201	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38211112	38211112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211112G>T	ENST00000379705.3	-	11	3719	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	TRPC4_ENST00000355779.2_Missense_Mutation_p.D813E|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959E|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813E|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805E|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781E|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATACTAGAGTCCTCTTCTT	0.443000													20	52					5.03518e-11	6.25324e-11	1	1	0
LPP	4026	broad.mit.edu	37	3	188327202	188327202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188327202C>A	ENST00000312675.4	+	6	929	c.683C>A	c.(682-684)gCc>gAc	p.A228D	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.A228D|LPP_ENST00000448637.1_Missense_Mutation_p.A228D	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	228	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGAAGTCAGCCCAGCCCAGC	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								27	31					7.07758e-08	8.39993e-08	1	1	0
CARD9	64170	broad.mit.edu	37	9	139265507	139265507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139265507C>T	ENST00000371732.5	-	4	578	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CARD9_ENST00000371734.3_Missense_Mutation_p.S138N|CARD9_ENST00000315908.7_Missense_Mutation_p.S138N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ATCTTTGGAGCTCAGCAGCGC	0.622000													5	15					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240944661	240944661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240944661G>A	ENST00000252711.2	-	8	956	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	NDUFA10_ENST00000404554.1_Nonsense_Mutation_p.Q286*|NDUFA10_ENST00000307300.4_Nonsense_Mutation_p.Q316*	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	286					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGATTGTCCTGCTTGAGCCAC	0.458000													10	93					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306647	16306647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16306647G>A	ENST00000244769.4	-	9	3297	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ATXN1_ENST00000436367.1_Silent_p.D787D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	787	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAGGTGGTTCGTCTTCTGACT	0.547000													34	56					0	0	1	0	0
FEZF1-AS1	0	broad.mit.edu	37	7	121944563	121944563	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944563G>T	ENST00000428449.1	+	0	611					NR_036484.1																						GCTTGTCACAGACCTGCGGAG	0.652000													5	12					0.0215528	0.0221649	1	1	0
TDRD3	81550	broad.mit.edu	37	13	61060002	61060002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61060002C>T	ENST00000196169.3	+	7	1146	c.358C>T	c.(358-360)Cct>Tct	p.P120S	TDRD3_ENST00000377881.2_Missense_Mutation_p.P120S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P120S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P213S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	120					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGTTACAATGCCTGTCAAACC	0.353000													14	26					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921684	108921684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921684C>T	ENST00000326853.5	+	7	1045	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	SULT1C2_ENST00000437390.2_Missense_Mutation_p.H201Y|SULT1C2_ENST00000409880.1_Missense_Mutation_p.H150Y|SULT1C2_ENST00000251481.6_Missense_Mutation_p.H187Y	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	187					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGACAGACACCAGATTCT	0.438000													9	92					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6829843	6829843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829843G>A	ENST00000304076.2	+	14	1406	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	VAV1_ENST00000596764.1_Missense_Mutation_p.G406R|VAV1_ENST00000539284.1_Missense_Mutation_p.G341R|VAV1_ENST00000599806.1_Missense_Mutation_p.G383R|VAV1_ENST00000602142.1_Missense_Mutation_p.G438R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	438	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAAGCGCAGGGGAGACTCCTA	0.527000													8	92					0	0	1	0	0
RAX2	84839	broad.mit.edu	37	19	3771688	3771688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3771688G>A	ENST00000555633.1	-	2	393	c.53C>T	c.(52-54)cCg>cTg	p.P18L	RAX2_ENST00000555978.1_Missense_Mutation_p.P18L			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	18					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGCCCGGCCCCAGACC	0.701000													4	17					0	0	1	0	0
ZNF703	80139	broad.mit.edu	37	8	37556060	37556060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37556060C>A	ENST00000331569.4	+	2	1870	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	547					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGTACCACCCCTATGGCAAGA	0.677000													3	13					1	1	1	1	0
CRB2	286204	broad.mit.edu	37	9	126125293	126125293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125293T>C	ENST00000373631.3	+	2	245	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	CRB2_ENST00000359999.3_Missense_Mutation_p.C82R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	82	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCGCTCTGTGTGTGCCCCA	0.677000													12	31					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57943976	57943976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57943976C>A	ENST00000325752.3	-	7	1346	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TUBD1_ENST00000394239.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000592426.1_Missense_Mutation_p.D357Y|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.D103Y|TUBD1_ENST00000539018.1_Missense_Mutation_p.D141Y|TUBD1_ENST00000340993.6_Missense_Mutation_p.D302Y	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	357					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTACCCACATCTGCACTTTGC	0.373000													29	48					1.80694e-10	2.22694e-10	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48459659	48459659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48459659C>T	ENST00000358536.4	-	15	3432	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	PLXNB1_ENST00000358459.4_Missense_Mutation_p.E872K|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1055K|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E872K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1055					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGGCCTCCCGGGTCACA	0.637000													11	13					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36945433	36945433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945433C>T	ENST00000373627.5	-	5	750	c.626G>A	c.(625-627)cGc>cAc	p.R209H	MTCH1_ENST00000373616.5_Missense_Mutation_p.R209H|MTCH1_ENST00000538808.1_Missense_Mutation_p.R53H	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	209					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCCAACATGCGGGACACACA	0.662000											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94463595	94463595	+	Missense_Mutation	SNP	G	G	T	rs63749058		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94463595G>T	ENST00000370225.3	-	48	6637	c.6551C>A	c.(6550-6552)cCt>cAt	p.P2184H	ABCA4_ENST00000536513.1_Missense_Mutation_p.P454H|ABCA4_ENST00000535881.1_Missense_Mutation_p.P303H	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2184					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGCTCCACAGGGTTCAGGTC	0.562000													4	101					0.00909568	0.00947522	1	1	0
ME3	10873	broad.mit.edu	37	11	86158194	86158194	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86158194G>T	ENST00000543262.1	-	12	1619	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Silent_p.S431S|ME3_ENST00000359636.2_Silent_p.S431S	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	431					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCTCGTGGAAGGAGGCCATGT	0.602000													28	24					6.32553e-13	7.99037e-13	1	1	0
PTK7	0	broad.mit.edu	37	6	43106885	43106885	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43106885C>T	ENST00000230419.4	+	9	1595	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	PTK7_ENST00000481273.1_Silent_p.F466F|PTK7_ENST00000352931.2_Silent_p.F458F|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Silent_p.F458F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	458	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACTCACGGTTCGAGGTCTTCA	0.592000													8	10					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095459	103095459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103095459C>A	ENST00000295269.4	+	2	875	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	140					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCCATCGTTCTGGAGGGCGG	0.612000													8	46					0.010729	0.0111717	1	1	0
MTMR14	64419	broad.mit.edu	37	3	9719032	9719032	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9719032G>T	ENST00000296003.4	+	8	905	c.783G>T	c.(781-783)cgG>cgT	p.R261R	MTMR14_ENST00000351233.5_Silent_p.R261R|MTMR14_ENST00000353332.5_Silent_p.R261R|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	261						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATAAAGATCGGGATTACATGG	0.443000													37	67					4.92203e-23	6.50827e-23	1	1	0
EHD3	30845	broad.mit.edu	37	2	31467293	31467293	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31467293C>A	ENST00000322054.5	+	2	666	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EHD3_ENST00000541626.1_Silent_p.A127A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	127					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACG	0.532000													5	44					2.0095e-06	2.31757e-06	1	1	0
PREP	5550	broad.mit.edu	37	6	105800935	105800935	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105800935G>T	ENST00000369110.3	-	7	927	c.735C>A	c.(733-735)cgC>cgA	p.R245R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	245				R -> C (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACAAGACATAGCGGCCATCAT	0.353000													9	116					3.09899e-07	3.63227e-07	1	1	0
CALCOCO2	10241	broad.mit.edu	37	17	46925799	46925799	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46925799C>A	ENST00000258947.3	+	4	500	c.399C>A	c.(397-399)atC>atA	p.I133I	CALCOCO2_ENST00000509507.1_Silent_p.I154I|CALCOCO2_ENST00000508679.1_Silent_p.I61I|CALCOCO2_ENST00000416445.2_Silent_p.I133I|CALCOCO2_ENST00000448105.2_Silent_p.I157I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	133					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGGAAGACATCCTGGTTGTTA	0.438000													8	109					3.09899e-07	3.63227e-07	1	1	0
NBAS	51594	broad.mit.edu	37	2	15359051	15359051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15359051C>T	ENST00000281513.5	-	48	6303	c.6278G>A	c.(6277-6279)cGg>cAg	p.R2093Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R1973Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2093										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAGAAAGGCCGCAGCCACTC	0.557000													17	20					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6700036	6700036	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6700036G>A	ENST00000377577.5	-	11	1302	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000542246.1_Silent_p.T355T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.T303T|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	393					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCCACGGTGGCATAGA	0.512000													3	23					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672521	30672521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30672521C>A	ENST00000376406.3	-	10	5086	c.4439G>T	c.(4438-4440)aGa>aTa	p.R1480I	MDC1_ENST00000376405.2_Missense_Mutation_p.R1216I|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1480	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGATCTATCTGTTCT	0.587000								Other conserved DNA damage response genes					12	146					0.00185496	0.00197886	1	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417359	150417359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417359C>T	ENST00000307194.5	+	3	407	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTCAGCTCCCAAGTGTCCA	0.652000													17	52					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31605026	31605026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31605026G>T	ENST00000389082.5	-	5	1741	c.1477C>A	c.(1477-1479)Cta>Ata	p.L493I	DENND5B_ENST00000306833.6_Missense_Mutation_p.L528I|DENND5B_ENST00000354285.4_Missense_Mutation_p.L515I|DENND5B_ENST00000536562.1_Missense_Mutation_p.L528I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	493						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTCCCTTAGTTCTGCCTCT	0.458000													11	132					3.27435e-08	3.90559e-08	1	1	0
NCLN	56926	broad.mit.edu	37	19	3192602	3192602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3192602G>A	ENST00000246117.4	+	2	750	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	NCLN_ENST00000590671.1_Missense_Mutation_p.A33T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	107					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCGGGCGCCGTGGTCAT	0.716000													11	8					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091031	32091031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32091031C>A	ENST00000438447.1	+	20	7865	c.7477C>A	c.(7477-7479)Ctt>Att	p.L2493I	PDZD2_ENST00000282493.3_Missense_Mutation_p.L2493I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2493		Cleavage; by caspases (By similarity).			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGCCTGACCTTGACAAGCT	0.612000													15	56					0.00244969	0.00259885	1	1	0
FADS6	283985	broad.mit.edu	37	17	72877209	72877209	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72877209T>C	ENST00000310226.6	-	4	729	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	245					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGAAGATGTTGACGTGGAGG	0.617000													4	16					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48141301	48141301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48141301G>A	ENST00000311303.3	-	18	2752	c.2407C>T	c.(2407-2409)Ctc>Ttc	p.L803F	ABCC12_ENST00000448542.1_Missense_Mutation_p.L800F|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	803	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCATCAGGAGGAAGAGGAAC	0.582000													41	73					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84349941	84349941	+	Silent	SNP	G	G	A	rs141349825	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84349941G>A	ENST00000509231.1	-	3	1834	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N	SATL1_ENST00000395409.3_Silent_p.N398N|SATL1_ENST00000332921.5_Silent_p.N398N			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	398							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTTGTTGATCGTTTACTTCTG	0.348000													11	18					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694511	99694511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694511C>T	ENST00000354649.3	+	2	1239	c.524C>T	c.(523-525)gCt>gTt	p.A175V	NUTM2G_ENST00000372322.3_Missense_Mutation_p.A175V|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		CCAGGGAACGCTGGGCCATGG	0.682000													6	100					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13228229	13228229	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13228229C>A	ENST00000378694.1	+	8	1239	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	MCM10_ENST00000484800.2_Silent_p.T389T|MCM10_ENST00000378714.3_Silent_p.T388T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	389					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTGGGAACCTGTAAAGCCA	0.448000													11	126					1.08611e-07	1.2824e-07	1	1	0
TEP1	7011	broad.mit.edu	37	14	20845812	20845812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845812C>T	ENST00000262715.5	-	40	5862	c.5822G>A	c.(5821-5823)cGg>cAg	p.R1941Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1833Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R279Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1941					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACAGCCACCCGATCACCATC	0.552000													47	71					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57891945	57891945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891945C>A	ENST00000262027.5	+	8	910	c.776C>A	c.(775-777)cCt>cAt	p.P259H	MARS_ENST00000315473.5_Missense_Mutation_p.P25H|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	259					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTAGGTTGCCTGTGGCTGGA	0.517000													27	37					1.16021e-09	1.41486e-09	1	1	0
DHCR7	1717	broad.mit.edu	37	11	71152283	71152283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71152283C>T	ENST00000355527.3	-	6	892	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	206					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A206T(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGTCTCTGGCGCTGGTGGGG	0.562000									Smith-Lemli-Opitz syndrome				16	32					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535723	69535723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69535723T>C	ENST00000338206.5	-	1	623	c.614A>G	c.(613-615)cAa>cGa	p.Q205R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	205					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAAATCATTTGATCACTTAA	0.343000													33	127					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492476	78492476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78492476G>A	ENST00000377211.4	-	2	655	c.503C>T	c.(502-504)gCa>gTa	p.A168V	EDNRB_ENST00000446573.1_Missense_Mutation_p.A78V|EDNRB_ENST00000334286.5_Missense_Mutation_p.A78V|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGGAGATCCTGCCGTCCTGTC	0.582000													23	21					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127965879	127965879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127965879C>A	ENST00000223073.1	-	11	1309	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.E258*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	399	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACCTCATTCTCTGGAGAAGCA	0.413000													9	38					0.00621372	0.00652201	1	1	0
TUBB	203068	broad.mit.edu	37	6	30691217	30691217	+	Silent	SNP	C	C	T	rs147158826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30691217C>T	ENST00000396389.1	+	4	917	c.324C>T	c.(322-324)agC>agT	p.S108S	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.S54S|TUBB_ENST00000396384.1_Silent_p.S54S|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000327892.8_Silent_p.S126S			P07437	TBB5_HUMAN	tubulin, beta class I	126					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGCAGAGAGCTGTGACTGCC	0.592000													16	26					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645923	60645923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60645923C>T	ENST00000400316.4	+	17	4658	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	PHLPP1_ENST00000262719.5_Silent_p.S1471S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1471					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCTCCAGCAGCGGCATGGCTT	0.632000													9	17					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100432641	100432641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100432641C>T	ENST00000240851.4	+	2	452	c.112C>T	c.(112-114)Cta>Tta	p.L38L	TFG_ENST00000418917.2_Silent_p.L38L|TFG_ENST00000476228.1_Silent_p.L38L|TFG_ENST00000490574.1_Silent_p.L38L	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	38					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGAATTAGTGCTAATGATGCA	0.328000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								4	72					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193586	105193586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105193586C>A	ENST00000428173.2	+	27	4679	c.4376C>A	c.(4375-4377)cCa>cAa	p.P1459Q	NRK_ENST00000540278.1_Intron|NRK_ENST00000243300.9_Missense_Mutation_p.P1458Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1458	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCATTATACCACAGAATATC	0.378000										HNSCC(51;0.14)			20	43					1.01871e-10	1.25892e-10	1	1	0
RPS18	6222	broad.mit.edu	37	6	33244215	33244215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33244215G>A	ENST00000439602.2	+	6	541	c.431G>A	c.(430-432)cGc>cAc	p.R144H	RPS18_ENST00000474973.1_Missense_Mutation_p.R74H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	144					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CGCCGTGGCCGCACCGTGGGT	0.478000													6	23					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79916837	79916837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79916837G>A	ENST00000409678.3	-	4	890	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	169						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGTAGGGGTTCTCCTCCG	0.632000													20	30					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24978975	24978975	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24978975C>A	ENST00000323848.9	+	7	1091	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P259H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P259H|SRRM1_ENST00000537199.1_Missense_Mutation_p.P128H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	259	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTAAAGAACCTTCTCCGGAA	0.448000													4	23					2.56e-06	2.9446e-06	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64168631	64168631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64168631C>T	ENST00000395391.1	+	4	3324	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373000													4	43					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416646	178416646	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178416646C>A	ENST00000408939.2	-	1	1096	c.846G>T	c.(844-846)gaG>gaT	p.E282D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	282					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCAACTCTTCCTCTGCCCTGG	0.498000													17	152					9.16793e-09	1.10245e-08	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44588001	44588001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44588001G>A	ENST00000322927.2	-	15	2192	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R543W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTCGGCACCGTACGTGCAGG	0.632000													14	29					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945427	144945427	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144945427C>A	ENST00000525985.1	-	2	2066	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D				P58107	EPIPL_HUMAN	epiplakin 1	665						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCTCAACGGAGT	0.627000													4	19					0.150653	0.152692	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53685848	53685848	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53685848A>G	ENST00000257934.4	+	27	5863	c.5772A>G	c.(5770-5772)ctA>ctG	p.L1924L	ESPL1_ENST00000552462.1_Silent_p.L1924L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1924					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGCTTCCTACTCAGCTACT	0.572000													11	59					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284307	159284307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284307G>A	ENST00000332217.5	-	1	142	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGAATAATGGTCATGATAAT	0.478000													9	170					0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138166	133138166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133138166G>A	ENST00000230050.3	+	5	512	c.302G>A	c.(301-303)cGt>cAt	p.R101H		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	101					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GGGAAACCCCGTAAAGTGGTT	0.373000													24	38					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2761277	2761277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2761277C>T	ENST00000381163.3	+	4	406	c.124C>T	c.(124-126)Cta>Tta	p.L42L	GYG2_ENST00000542787.1_Silent_p.L42L|GYG2_ENST00000338623.5_Silent_p.L42L|GYG2_ENST00000398806.3_Silent_p.L11L|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	42					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGTCACACTAGCCACCAA	0.552000													15	23					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122570	12122570	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122570T>C	ENST00000379388.2	+	4	2874	c.2542T>C	c.(2542-2544)Tca>Cca	p.S848P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGGTTATTCAGCAGTACC	0.398000													10	132					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325153	43325153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325153C>T	ENST00000361428.2	-	3	976	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R300Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	300					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTACGCTGTCGATAGTTGCG	0.517000													23	37					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35991443	35991443	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35991443C>A	ENST00000339686.3	-	12	1455	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	DMKN_ENST00000414866.2_Missense_Mutation_p.D140Y|DMKN_ENST00000480502.1_Missense_Mutation_p.D121Y|DMKN_ENST00000408915.2_Missense_Mutation_p.D41Y|DMKN_ENST00000472252.2_Missense_Mutation_p.D74Y|DMKN_ENST00000429837.1_Missense_Mutation_p.D386Y|DMKN_ENST00000402589.2_Missense_Mutation_p.D140Y|DMKN_ENST00000467637.1_Missense_Mutation_p.D152Y|DMKN_ENST00000419602.1_Missense_Mutation_p.D416Y|DMKN_ENST00000492341.2_Missense_Mutation_p.D74Y|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000602781.1_Missense_Mutation_p.D140Y|DMKN_ENST00000443640.1_Missense_Mutation_p.D190Y|DMKN_ENST00000436012.1_Missense_Mutation_p.D123Y	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072).			extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTGATCGTCTCTGCCTGCA	0.597000													8	7					0.00448238	0.00472561	1	1	0
ZNF880	400713	broad.mit.edu	37	19	52887684	52887684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52887684C>T	ENST00000422689.2	+	4	866	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	284					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTCACCTTGCAAATCATCAC	0.408000													4	20					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675840	21675840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21675840G>A	ENST00000379499.2	-	1	608	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	23								p.R23C(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTCGGCGCGCAGGGCCTGG	0.642000													10	10					0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47075341	47075341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47075341G>A	ENST00000371940.1	-	3	3780	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	MOB3C_ENST00000271139.8_Missense_Mutation_p.R265W|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Missense_Mutation_p.R213W			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	213							metal ion binding										TGGCAGATCCGCTCTGTCATC	0.557000													5	23					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773031	118773031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118773031G>T	ENST00000334801.3	-	6	2385	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	474	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTGTCTGTGAAATCATGGA	0.652000													12	100					2.80697e-09	3.39963e-09	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960267	73960267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960267C>A	ENST00000373468.1	-	3	4776	c.4125G>T	c.(4123-4125)caG>caT	p.Q1375H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1375H			Q5QGS0	K2022_HUMAN	KIAA2022	1375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTTAGACTCCTGTGGTGTCC	0.458000													8	79					3.09899e-07	3.63227e-07	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151261878	151261878	+	Silent	SNP	C	C	T	rs146722973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151261878C>T	ENST00000368879.2	+	5	2594	c.2496C>T	c.(2494-2496)tgC>tgT	p.C832C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCCATGTGCGACACAGTCT	0.602000													39	36					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269218	37269218	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269218G>A	ENST00000315190.3	+	2	449	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	1						integral to membrane											CCATAAAGATGTCTGAACCTG	0.463000													20	63					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255269	21255269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21255269G>A	ENST00000233242.1	-	10	1436	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	APOB_ENST00000399256.4_Missense_Mutation_p.R437C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	437	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCGGCTGCGCTGATCCCTC	0.572000													24	39					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84878087	84878087	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84878087C>A	ENST00000370665.3	+	5	636	c.603C>A	c.(601-603)acC>acA	p.T201T	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	201					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCCCAGCCACCTTTCACCAGG	0.517000													4	100					0.014758	0.0152625	1	1	0
GATAD2A	54815	broad.mit.edu	37	19	19603460	19603460	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19603460A>C	ENST00000404158.1	+	6	891	c.473A>C	c.(472-474)aAa>aCa	p.K158T	GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.K15T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.K158T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	158					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAGAAGCAAAACTCGTGTTG	0.517000													8	62					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195193	19195193	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19195193G>A	ENST00000562034.1	+	3	4290	c.492G>A	c.(490-492)gcG>gcA	p.A164A	SYT17_ENST00000568115.1_Silent_p.A164A|SYT17_ENST00000355377.2_Silent_p.A225A|SYT17_ENST00000562711.2_Silent_p.A221A			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	225						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGGACATGGCGCACTCCAACC	0.612000													67	86					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916250	72916250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72916250G>A	ENST00000319642.1	-	2	863	c.681C>T	c.(679-681)ggC>ggT	p.G227G		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTGCCTTCGCCGCCCTGCT	0.687000													20	38					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96443187	96443187	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96443187G>A	ENST00000274382.4	-	3	559	c.264C>T	c.(262-264)gcC>gcT	p.A88A	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	88										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCCTGGCCTCGGCTCTACTTA	0.493000													29	38					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31596972	31596972	+	Missense_Mutation	SNP	C	C	T	rs116181516	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31596972C>T	ENST00000376033.2	+	13	2051	c.1817C>T	c.(1816-1818)cCt>cTt	p.P606L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P606L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	606	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAAGAGGTTCCTCCTCCTACC	0.537000													17	118					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838869	109838869	+	Missense_Mutation	SNP	C	C	T	rs143483325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109838869C>T	ENST00000357155.1	-	6	903	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	285	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GGGAGAGGCGCGGACACAGCA	0.577000													7	126					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85257248	85257248	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85257248A>T	ENST00000266682.5	-	11	2329	c.1788T>A	c.(1786-1788)ccT>ccA	p.P596P	SLC6A15_ENST00000309283.7_Silent_p.P304P|SLC6A15_ENST00000552192.1_Silent_p.P489P	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	596					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATAGCCAGGAGGACTTAATC	0.308000													11	114					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52699064	52699064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52699064C>T	ENST00000370989.1	-	5	447	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	GSTA5_ENST00000284562.2_Missense_Mutation_p.E97K|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	97	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACTATACCTTCTGTGTACATA	0.348000													49	68					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100693793	100693793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100693793G>A	ENST00000306151.4	+	7	12815	c.12751G>A	c.(12751-12753)Gtc>Atc	p.V4251I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4251	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGCATGACGTCCTCCTAAG	0.478000													42	37					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587422	56587422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56587422T>C	ENST00000336078.4	+	4	2679	c.1903T>C	c.(1903-1905)Tac>Cac	p.Y635H	ZNF532_ENST00000591230.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000589288.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591083.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591808.1_Missense_Mutation_p.Y635H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCCAGCACTACGACAGACG	0.537000													19	26					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21643136	21643136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21643136C>A	ENST00000444129.2	-	4	859	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D131Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	131	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACATACCATCTGAACATAAT	0.294000								Other identified genes with known or suspected DNA repair function					6	72					0.0215528	0.0221649	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28151500	28151500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28151500T>C	ENST00000305242.5	-	18	2754	c.2662A>G	c.(2662-2664)Aat>Gat	p.N888D	ARMC4_ENST00000537576.1_Missense_Mutation_p.N580D|ARMC4_ENST00000545014.1_Missense_Mutation_p.N413D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	888							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAGTAAATTGACAATAAGT	0.343000													25	34					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935400	30935400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935400C>T	ENST00000355537.3	+	2	1078	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCGGCTTCGCAGGAGGAGGA	0.642000													10	101					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170626873	170626873	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170626873T>A	ENST00000476287.1	+	2	503	c.395T>A	c.(394-396)tTc>tAc	p.F132Y	FAM120B_ENST00000537664.1_Missense_Mutation_p.F155Y|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.F144Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	132					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AATATGTTCTTCATCCCCTCA	0.453000													34	68					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1291148	1291148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1291148G>T	ENST00000397203.2	+	10	2339	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E617*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E645*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E645*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E645*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E645*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	645					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAGCAAGAGGAAATTGA	0.413000													8	33					0.000157383	0.00017284	1	1	0
PTK2	5747	broad.mit.edu	37	8	141889570	141889570	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141889570T>A	ENST00000519881.1	-	3	553	c.362A>T	c.(361-363)aAg>aTg	p.K121M	PTK2_ENST00000340930.3_Splice_Site_p.K121_splice|PTK2_ENST00000519419.1_Splice_Site_p.K165_splice|PTK2_ENST00000522684.1_Splice_Site_p.K121_splice|PTK2_ENST00000521059.1_Splice_Site_p.K121_splice|PTK2_ENST00000535192.1_Splice_Site_p.K121_splice|PTK2_ENST00000517887.1_Splice_Site_p.K165_splice|PTK2_ENST00000395218.2_Splice_Site_p.K121_splice|PTK2_ENST00000520892.1_Missense_Mutation_p.K121M			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	121	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTATCTTACTTCCACTCCTC	0.438000													62	96					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24600812	24600812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24600812G>A	ENST00000267426.5	+	1	329	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.201_201insQ	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	14					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						actgggggccggggcCCGAAT	0.677000													3	5					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110780139	110780139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110780139C>T	ENST00000395494.2	+	14	2686	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	ATP2A2_ENST00000539276.2_Missense_Mutation_p.A735V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.A735V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	735					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTCCTGGCGGATGACAAC	0.552000													22	32					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821215	5821215	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821215T>C	ENST00000381095.3	-	5	2131	c.1504A>G	c.(1504-1506)Atc>Gtc	p.I502V	NLGN4X_ENST00000275857.6_Missense_Mutation_p.I502V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I522V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I502V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I502V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGACCGATCATGGGGATG	0.532000													26	36					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564467	66564467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66564467G>A	ENST00000360242.5	+	6	1182	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.L355L|CCDC102B_ENST00000584156.1_Silent_p.L355L|CCDC102B_ENST00000319445.6_Silent_p.L355L	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	355										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGAGATTGCAAGCTGAAA	0.433000													27	44					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65309818	65309818	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65309818G>T	ENST00000377990.2	+	6	2456	c.2253G>T	c.(2251-2253)gaG>gaT	p.E751D	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E614D	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	751					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGCAATGGAGCACCCATGTG	0.512000													32	73					9.78485e-24	1.2965e-23	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98527692	98527692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98527692G>T	ENST00000359863.4	+	24	3465	c.3256G>T	c.(3256-3258)Gga>Tga	p.G1086*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.G1086*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.G1085*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1086					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCTCGAAAGGAATGGATCC	0.478000													6	140					1.26484e-09	1.54084e-09	1	1	0
BPIFA2	140683	broad.mit.edu	37	20	31757100	31757100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31757100C>T	ENST00000253362.2	+	2	295	c.149C>T	c.(148-150)aCt>aTt	p.T50I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.T50I			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	50						extracellular region	lipid binding										GTTGACAATACTCTTAAAGGT	0.458000													31	53					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58962747	58962747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58962747G>T	ENST00000227451.3	+	7	1545	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	DTX4_ENST00000532982.1_Missense_Mutation_p.G375W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	481					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCAACCTCCAGGGAAGATGGA	0.572000													10	58					2.17888e-05	2.45068e-05	1	1	0
VRTN	55237	broad.mit.edu	37	14	74823874	74823874	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74823874C>T	ENST00000256362.4	+	2	629	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	130					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAAAGTGATGCTGCAGGCCGT	0.632000													10	19					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11205086	11205086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11205086C>A	ENST00000361445.4	-	33	4779	c.4703G>T	c.(4702-4704)aGg>aTg	p.R1568M	MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1568	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCAGGTCCCTGGCCTTGTC	0.488000													28	58					6.38683e-12	7.9998e-12	1	1	0
NEMF	9147	broad.mit.edu	37	14	50307487	50307487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50307487C>T	ENST00000298310.5	-	5	904	c.455G>A	c.(454-456)cGc>cAc	p.R152H	NEMF_ENST00000545773.1_Missense_Mutation_p.R110H|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.R152H			O60524	NEMF_HUMAN	nuclear export mediator factor	152						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAGTGGATAGCGTTCACGAAC	0.348000													4	44					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839825	44839825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44839825G>A	ENST00000270162.6	-	9	1165	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	345					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TACTCCTTGAGCCGCTCAAGG	0.612000													4	4					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118227693	118227693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118227693C>T	ENST00000402510.2	-	10	1419	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	474										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTTTCTTCTTCAGAAACC	0.443000													13	22					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531984	190531984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190531984A>G	ENST00000260952.4	+	4	1539	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	376	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAACAGAAAAATAAATGTGA	0.368000													18	35					0	0	1	0	0
ZNF211	0	broad.mit.edu	37	19	58152302	58152302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58152302C>A	ENST00000544273.1	+	5	811	c.484C>A	c.(484-486)Ctt>Att	p.L162I	ZNF211_ENST00000420680.1_Missense_Mutation_p.L154I|ZNF211_ENST00000541801.1_Missense_Mutation_p.L141I|ZNF211_ENST00000347302.3_Missense_Mutation_p.L150I|ZNF211_ENST00000299871.5_Missense_Mutation_p.L215I|ZNF211_ENST00000254182.7_Missense_Mutation_p.L141I|ZNF211_ENST00000240731.4_Missense_Mutation_p.L163I|ZNF211_ENST00000391703.3_Missense_Mutation_p.L89I			Q13398	ZN211_HUMAN	zinc finger protein 211	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGCAAATCTTCAACAGCA	0.458000													5	53					0.248553	0.25002	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34209090	34209090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34209090C>T	ENST00000373381.4	-	14	2140	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	615	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGATGCGGCTCTCAGG	0.612000													28	26					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642000													9	17					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188702	98188702	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188702C>A	ENST00000332650.5	+	1	379	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATTTCCCTCTATGAATGTG	0.433000													17	192					3.45872e-05	3.88335e-05	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943504	67943504	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67943504C>T	ENST00000291041.5	+	2	1022	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	284	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GGGCGCTGGGCGTCATTGCCT	0.567000													26	24					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65361297	65361297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65361297A>G	ENST00000394216.2	-	2	591	c.368T>C	c.(367-369)aTg>aCg	p.M123T	KCNK7_ENST00000394217.2_Missense_Mutation_p.M123T|KCNK7_ENST00000342202.4_Missense_Mutation_p.M123T|KCNK7_ENST00000340313.4_Missense_Mutation_p.M123T	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627000											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	61					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18736140	18736140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18736140G>A	ENST00000513874.1	-	12	1702	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	521										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGTGCACGTCGGACATCCCGC	0.602000													6	57					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182910809	182910809	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182910809G>T	ENST00000328913.3	-	27	3291	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Silent_p.A998A	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	998					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGTGCTGGAGGCCGGGTCTT	0.493000													10	89					0.00010058	0.000111121	1	1	0
LIN28A	79727	broad.mit.edu	37	1	26751871	26751871	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26751871G>T	ENST00000326279.6	+	3	420	c.306G>T	c.(304-306)aaG>aaT	p.K102N	LIN28A_ENST00000254231.4_Missense_Mutation_p.K102N	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	102	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGTCAGCCAAGGGTCTGGAAT	0.517000													9	105					4.68919e-08	5.58064e-08	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53682456	53682456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53682456C>T	ENST00000257934.4	+	20	4772	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1561W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1561				R -> Q (in Ref. 1; AAR18247 and 2; BAA11482).	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTCGGCTCCGGCTCCCCTC	0.587000													15	37					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8826086	8826086	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8826086C>T	ENST00000359865.3	+	15	4720	c.4578C>T	c.(4576-4578)ctC>ctT	p.L1526L	SOGA2_ENST00000518815.1_Silent_p.L851L|SOGA2_ENST00000400050.3_Silent_p.L1485L|SOGA2_ENST00000306329.11_Silent_p.L1845L|SOGA2_ENST00000517570.1_Silent_p.L1485L|SOGA2_ENST00000306285.7_Silent_p.L851L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1836																	GCTACACGCTCACTGAGAACG	0.632000													3	5					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060680	81060680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81060680C>T	ENST00000334512.5	+	17	2572	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	667					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGATCACCGTCACGGCC	0.662000													6	17					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845450	106845450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106845450G>A	ENST00000276185.4	+	16	4280	c.4280G>A	c.(4279-4281)cGc>cAc	p.R1427H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1427						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTGATGCGCCGCTACAGTATC	0.627000													29	32					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100433472	100433472	+	Missense_Mutation	SNP	G	G	A	rs142553294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100433472G>A	ENST00000279907.7	-	20	4389	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R1043C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1393										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGACACTGCGTTGTTTCTTC	0.453000													17	26					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733194	6733194	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6733194A>G	ENST00000264080.7	-	9	868	c.842T>C	c.(841-843)aTc>aCc	p.I281T	GPR108_ENST00000430424.4_Missense_Mutation_p.I39T	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	281						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTGCAGAGGATGGACACCCA	0.622000													28	27					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021058	73021058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73021058C>T	ENST00000263674.3	+	1	1725	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGTCGACAGCGGAAGTCCCT	0.577000													5	44					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22680720	22680720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22680720G>T	ENST00000333957.4	-	4	539	c.284C>A	c.(283-285)cCt>cAt	p.P95H	C2CD5_ENST00000536386.1_Missense_Mutation_p.P95H|C2CD5_ENST00000396028.2_Missense_Mutation_p.P95H|C2CD5_ENST00000446597.1_Missense_Mutation_p.P95H|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.P95H|C2CD5_ENST00000545552.1_Missense_Mutation_p.P95H	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ATACAGTAAAGGATCAATATC	0.338000													7	81					9.70103e-10	1.18443e-09	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48945130	48945130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48945130C>T	ENST00000263269.3	+	11	2445	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	786						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTTCGCCACGACAGGCTAT	0.632000													6	20					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122168492	122168492	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122168492T>G	ENST00000344337.6	-	9	1022	c.846A>C	c.(844-846)tcA>tcC	p.S282S	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	282	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGGTCCATCTGATAGATATG	0.448000													3	66					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8938388	8938388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8938388C>A	ENST00000256707.3	-	10	1124	c.943G>T	c.(943-945)Gca>Tca	p.A315S	KIDINS220_ENST00000473731.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A316S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A273S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	315					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATTGTTGCATTTCCTTTC	0.328000													18	42					8.34094e-07	9.69005e-07	1	1	0
PRKCA	5578	broad.mit.edu	37	17	64683231	64683231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64683231C>T	ENST00000413366.3	+	6	558	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	178	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R178*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CTTCACAGTACGAGATGCAAA	0.388000													45	73					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8957802	8957802	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957802C>T	ENST00000256707.3	-	4	433	c.252G>A	c.(250-252)gtG>gtA	p.V84V	KIDINS220_ENST00000473731.1_Silent_p.V84V|KIDINS220_ENST00000319688.5_Silent_p.V84V|KIDINS220_ENST00000427284.1_Silent_p.V84V|KIDINS220_ENST00000418530.1_Silent_p.V42V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	84					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACGATGTGCACATGCCCTT	0.333000													35	59					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794735	7794735	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7794735A>G	ENST00000328853.5	-	8	783	c.715T>C	c.(715-717)Tgg>Cgg	p.W239R		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	239	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTCCACCCACTGGTAGCCC	0.607000													22	56					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771461	48771461	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48771461C>T	ENST00000314191.2	-	48	6347	c.6291G>A	c.(6289-6291)acG>acA	p.T2097T	PRKDC_ENST00000338368.3_Silent_p.T2097T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2098					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGACCAGGGCCGTCAGGGGCG	0.567000								Non-homologous end-joining					35	35					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544668	23544668	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23544668A>G	ENST00000300619.7	-	4	1318	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	ZNF91_ENST00000397082.2_Silent_p.T339T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTCAGTATGAGTTATCTTAT	0.348000													9	60					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53423221	53423221	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53423221G>A	ENST00000322213.4	-	18	2915	c.2788C>T	c.(2788-2790)Cta>Tta	p.L930L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	930					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGGCCTGTAGCAAGTTGTGA	0.488000													25	41					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48396193	48396193	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48396193T>C	ENST00000380006.2	-	1	1600	c.147A>G	c.(145-147)ttA>ttG	p.L49L	SIAH1_ENST00000394725.2_Silent_p.L49L|SIAH1_ENST00000356721.3_Silent_p.L80L			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	49					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GAATGGGCGGTAACACATAGT	0.522000													6	41					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140472007	140472007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140472007G>T	ENST00000277540.2	-	2	359	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		AAACTGTACAGGAAGAGACGG	0.443000													7	64					0.27861	0.279982	1	1	0
ANAPC5	51433	broad.mit.edu	37	12	121773353	121773353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121773353G>A	ENST00000261819.3	-	7	1054	c.933C>T	c.(931-933)caC>caT	p.H311H	ANAPC5_ENST00000541887.1_Silent_p.H311H|ANAPC5_ENST00000536366.1_Silent_p.H190H|ANAPC5_ENST00000441917.2_Silent_p.H212H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Silent_p.H212H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGCGGCAGTGCAGGGCGG	0.512000													8	145					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8528381	8528381	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8528381G>A	ENST00000348943.3	+	4	569	c.336_splice	c.e4-1	p.G113_splice	HNRNPM_ENST00000325495.4_Splice_Site_p.G113_splice	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	113	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCTCCAAAGGGATGTGCGTA	0.368000													18	94					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185138	93185138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93185138C>T	ENST00000393218.2	-	4	527	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LGMN_ENST00000334869.4_Missense_Mutation_p.E64K|LGMN_ENST00000557434.1_Missense_Mutation_p.E64K|LGMN_ENST00000555699.1_Missense_Mutation_p.E64K	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	64					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468000													23	46					0	0	1	0	0
CLLU1	574028	broad.mit.edu	37	12	92818761	92818761	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92818761T>G	ENST00000378485.1	+	1	1027	c.305T>G	c.(304-306)aTt>aGt	p.I102S	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000378487.2_Intron|CLLU1OS_ENST00000538965.1_Intron|CLLU1_ENST00000472839.2_Intron	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AAAAAACATATTATTTATTCT	0.313000													5	40					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580426	49580426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49580426G>A	ENST00000301071.7	-	2	538	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TUBA1A_ENST00000546918.1_Missense_Mutation_p.A65V|TUBA1A_ENST00000550767.1_Missense_Mutation_p.A30V|TUBA1A_ENST00000295766.5_Missense_Mutation_p.A65V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	65					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TACAAACACTGCCCGGGGCAC	0.572000													10	79					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601453	24601453	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24601453C>G	ENST00000267426.5	+	2	589	c.300C>G	c.(298-300)tgC>tgG	p.C100W	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	100					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGGACATGCACTTTCTTAG	0.567000													23	47					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219266	44219266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44219266G>A	ENST00000371554.1	+	8	1449	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.C412Y|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.C412Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	412					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTAAGAAGTGCCTTGAGCTC	0.418000													13	14					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17089500	17089500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17089500C>T	ENST00000377833.4	-	23	3307	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1081	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCCAGTTCTCACTGTGAT	0.413000													25	31					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62199548	62199548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199548C>T	ENST00000261517.5	-	66	9093	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3007Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R2964Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2964Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3007					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCAAAAAGTCGAGCCTGTCT	0.418000													29	45					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360609	65360609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65360609G>A	ENST00000340313.4	-	3	1014	c.791C>T	c.(790-792)gCc>gTc	p.A264V	KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CTTCCCCATGGCACGGACCTG	0.622000													14	9					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	rs148640580	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577000													28	90					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75140811	75140811	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75140811A>T	ENST00000356357.4	-	9	1599	c.1084T>A	c.(1084-1086)Ttc>Atc	p.F362I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTCACTGAGAATTGCTGGAGG	0.403000													6	13					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711350	134711350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711350C>T	ENST00000370752.4	+	14	2340	c.2006C>T	c.(2005-2007)aCa>aTa	p.T669I	DDX26B_ENST00000493637.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	669										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTACATACAGGTATAGAG	0.443000													9	55					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127342560	127342560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127342560G>T	ENST00000354725.3	+	6	855	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	221	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGTTACAGTCATGCTGTC	0.512000													11	109					3.86212e-05	4.30401e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGCTGTTCCGTCCCAGTAGA	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	16					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917062	43917062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917062G>A	ENST00000336086.6	-	4	4107	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	URGCP_ENST00000447717.3_Missense_Mutation_p.T624M|URGCP_ENST00000443736.1_Missense_Mutation_p.T624M|URGCP_ENST00000402306.3_Missense_Mutation_p.T658M|URGCP_ENST00000223341.7_Missense_Mutation_p.T624M|URGCP_ENST00000453200.1_Missense_Mutation_p.T667M|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGCTCAGCGTGCTCCCATC	0.657000													27	14					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949768	45949768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45949768G>A	ENST00000531526.1	+	13	1906	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A599T|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A599T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	599					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACAGACTATGCCCGCTGGCG	0.672000													10	67					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897813	191897813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191897813C>T	ENST00000392320.2	-	21	2229	c.1915G>A	c.(1915-1917)Gct>Act	p.A639T	STAT4_ENST00000358470.4_Missense_Mutation_p.A639T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	639	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGATGTCAGCGAATGGCAGA	0.438000													34	41					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52895571	52895571	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52895571G>T	ENST00000354452.3	-	19	2512	c.1901C>A	c.(1900-1902)gCt>gAt	p.A634D	TCF4_ENST00000540999.1_Missense_Mutation_p.A606D|TCF4_ENST00000356073.4_Missense_Mutation_p.A630D|TCF4_ENST00000561992.1_Missense_Mutation_p.A500D|TCF4_ENST00000543082.1_Missense_Mutation_p.A588D|TCF4_ENST00000570287.2_Missense_Mutation_p.A470D|TCF4_ENST00000564999.1_Missense_Mutation_p.A630D|TCF4_ENST00000570177.2_Missense_Mutation_p.A500D|TCF4_ENST00000568673.1_Missense_Mutation_p.A610D|TCF4_ENST00000568740.1_Missense_Mutation_p.A605D|TCF4_ENST00000564403.2_Missense_Mutation_p.A640D|TCF4_ENST00000565018.2_Missense_Mutation_p.A634D|TCF4_ENST00000564228.1_Missense_Mutation_p.A559D|TCF4_ENST00000561831.3_Missense_Mutation_p.A470D|TCF4_ENST00000566279.1_Missense_Mutation_p.A574D|TCF4_ENST00000537856.3_Missense_Mutation_p.A500D|TCF4_ENST00000537578.1_Missense_Mutation_p.A610D|TCF4_ENST00000457482.3_Missense_Mutation_p.A474D|TCF4_ENST00000567880.1_Missense_Mutation_p.A570D|TCF4_ENST00000398339.1_Missense_Mutation_p.A736D|TCF4_ENST00000566286.1_Missense_Mutation_p.A627D|TCF4_ENST00000544241.2_Missense_Mutation_p.A563D	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	630	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGACACGCAGCTTTCGGATT	0.532000													28	43					7.01153e-11	8.6781e-11	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520573	72520573	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72520573C>T	ENST00000373208.1	+	22	3645	c.3645C>T	c.(3643-3645)ccC>ccT	p.P1215P	ADAMTS14_ENST00000373207.1_Silent_p.P1212P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGACATCCCGGCACCAGCC	0.642000													10	29					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179082095	179082095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179082095G>T	ENST00000471841.1	+	6	673	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MFN1_ENST00000280653.7_Missense_Mutation_p.D183Y|MFN1_ENST00000263969.5_Missense_Mutation_p.D183Y	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	183					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCAGGCACAGATGTCACTAC	0.323000													16	42					0.00400662	0.00423533	1	1	0
CXorf58	254158	broad.mit.edu	37	X	23953347	23953347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23953347C>A	ENST00000379211.3	+	7	1139	c.590C>A	c.(589-591)tCt>tAt	p.S197Y		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	197										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CCTGCATTTTCTGGCGGCAGA	0.423000													89	113					9.79686e-34	1.31641e-33	1	1	0
STAG2	10735	broad.mit.edu	37	X	123185164	123185164	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185164G>T	ENST00000371160.1	+	13	1406		c.e13-1		STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371157.3_Splice_Site			Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttGTCCTTAGGATAGAATTG	0.279000													7	77					0.00198382	0.00210581	1	1	0
TAPT1-AS1	0	broad.mit.edu	37	4	16257980	16257980	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16257980G>A	ENST00000570786.1	+	0	335				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						TCGGAGAATCGAATCATCTGA	0.458000													10	18					0	0	1	0	0
FAM211A	388341	broad.mit.edu	37	17	16347042	16347042	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16347042G>T	ENST00000470794.1	-	4	922	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000409083.3_3'UTR	NM_001113567.2	NP_001107039.1	Q8NAA5	CQ076_HUMAN	family with sequence similarity 211, member A	299										lung(1)	1						CCCAGCTCCAGGATGGTGGGT	0.662000													7	20					8.12818e-05	8.99451e-05	1	1	0
IPCEF1	26034	broad.mit.edu	37	6	154489055	154489055	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154489055C>A	ENST00000265198.4	-	11	1256	c.1101_splice	c.e11+1	p.K367_splice	IPCEF1_ENST00000367220.4_Splice_Site_p.K368_splice|IPCEF1_ENST00000422970.2_Splice_Site_p.K368_splice|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Splice_Site_p.K339_splice	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTTTGTTACCTTTAATGTGC	0.388000													25	49					1.36565e-18	1.78266e-18	1	1	0
CLCN3	0	broad.mit.edu	37	4	170628254	170628254	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170628254G>T	ENST00000513761.1	+	11	2545	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	CLCN3_ENST00000347613.4_Missense_Mutation_p.R662S|CLCN3_ENST00000360642.3_Missense_Mutation_p.R635S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R645S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	662	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACCTCGAAGGAATGATCCTC	0.408000													11	91					0.000673444	0.000724755	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88524540	88524540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88524540C>A	ENST00000317501.3	-	14	1798	c.1637G>T	c.(1636-1638)aGa>aTa	p.R546I	NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000355254.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R546I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tagatgatctctattgtcctt	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	39					0.00909568	0.00947522	1	1	0
TRIM51HP	0	broad.mit.edu	37	11	55065578	55065578	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065578C>T	ENST00000526016.1	-	0	130					NR_038174.2																						ATGTTGTCTCCTTGCATTTAG	0.493000													21	20					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109193759	109193759	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109193759C>A	ENST00000370032.5	-	6	891	c.471G>T	c.(469-471)atG>atT	p.M157I	HENMT1_ENST00000402983.1_Missense_Mutation_p.M157I|HENMT1_ENST00000370031.1_Missense_Mutation_p.M157I|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	157					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGATGACAATCATGGATGGAG	0.393000													78	55					8.78091e-33	1.1787e-32	1	1	0
NDRG3	57446	broad.mit.edu	37	20	35335406	35335406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35335406C>T	ENST00000373803.2	-	3	118	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NDRG3_ENST00000373773.3_Missense_Mutation_p.V2I|NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.G21D|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	21					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTTTCTTGTACCATTCTGTCA	0.478000													6	57					0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13681863	13681863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13681863C>T	ENST00000322247.3	-	3	601	c.214G>A	c.(214-216)Gat>Aat	p.D72N	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.D72N	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	72						integral to membrane											GGATGAGCATCCAATGGCCTC	0.478000													46	70					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65429438	65429438	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429438T>C	ENST00000525693.1	-	3	218	c.156A>G	c.(154-156)acA>acG	p.T52T	RELA_ENST00000406246.3_Silent_p.T52T|RELA_ENST00000308639.9_Silent_p.T52T			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	52	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGTGGTATCTGTGCTCCTCT	0.637000													5	32					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116425028	116425028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116425028G>A	ENST00000281928.3	-	18	4206	c.4000C>T	c.(4000-4002)Ctc>Ttc	p.L1334F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1334					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCTTGGAGAAAGGGCTGC	0.527000													15	32					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468352	35468352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468352G>A	ENST00000381151.3	+	2	1367	c.855G>A	c.(853-855)agG>agA	p.R285R	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	285		Implicated in sodium coupling (By similarity).				integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCGTGCAGAGGGTCCTTGCAG	0.483000													41	55					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96624864	96624864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96624864C>T	ENST00000376747.3	-	11	1224	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	385					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATATCAACACGAAGGCCATT	0.313000													5	50					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636832	73636832	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73636832C>A	ENST00000377687.4	+	2	1631	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	KLF5_ENST00000539231.1_Silent_p.P274P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	365					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAGTAACCCCGATTTGGAGA	0.443000													6	89					0.00116845	0.00124821	1	1	0
ACTA2	59	broad.mit.edu	37	10	90701149	90701149	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90701149T>C	ENST00000458208.1	-	6	929		c.e6-2		STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_Splice_Site|ACTA2_ENST00000224784.6_Splice_Site	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCACGATGCCTGGGAGACAAT	0.567000													5	35					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605083	31605083	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31605083C>T	ENST00000376033.2	+	30	6549	c.6315C>T	c.(6313-6315)cgC>cgT	p.R2105R	PRRC2A_ENST00000376007.4_Silent_p.R2105R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2105	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCACCCAGCGCGTCGACCTTT	0.562000													8	46					0	0	1	0	0
NPY1R	0	broad.mit.edu	37	4	164246906	164246906	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164246906T>C	ENST00000509586.1	-	0	236				NPY1R_ENST00000296533.2_Missense_Mutation_p.Y235C			P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1						inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGGCGTATATATATCTATGG	0.313000													4	32					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148035176	148035176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148035176C>T	ENST00000370460.2	+	10	1943	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	AFF2_ENST00000342251.3_Silent_p.S455S|AFF2_ENST00000286437.5_Silent_p.S129S|AFF2_ENST00000370457.5_Silent_p.S455S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	488					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCAGCGAATCGGAGA	0.552000													51	75					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24815620	24815620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24815620C>T	ENST00000395799.3	+	12	3946	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1273C|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1273	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCATGGAGCGCAATCCTTA	0.378000													13	43					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239204	102239204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102239204G>A	ENST00000227758.2	+	6	2690	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.V410M|BIRC2_ENST00000530675.1_Missense_Mutation_p.V382M	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	431					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAATGATATTGTGTCAGCACT	0.383000													47	61					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100902	85100902	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85100902C>T	ENST00000566428.1	+	2	856	c.225C>T	c.(223-225)aaC>aaT	p.N75N	KIAA0513_ENST00000258180.3_Silent_p.N75N|KIAA0513_ENST00000567328.1_Silent_p.N75N|KIAA0513_ENST00000538274.1_Silent_p.N75N			O60268	K0513_HUMAN	KIAA0513	75						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCTCCTCCAACGAGTCCTTCT	0.587000													5	51					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950399	235950399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:235950399C>T	ENST00000409212.1	+	4	1493	c.986C>T	c.(985-987)gCt>gTt	p.A329V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A329V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A329V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	329					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGGGTGCTGTCCAGCTT	0.632000													13	23					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884783	63884783	+	Silent	SNP	C	C	T	rs140908634		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884783C>T	ENST00000246841.3	+	2	2087	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	320	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACGGGCGGCCGTGGTCAACG	0.627000													16	26					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49950198	49950198	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950198G>A	ENST00000257981.6	+	13	2774	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	838					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAGCCCAAGTTCTCTTTCC	0.617000													32	59					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524486	23524486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23524486G>A	ENST00000296682.3	+	10	1176	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	332	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAACCTGGTGGCCTTCCAGTA	0.527000										HNSCC(3;0.000094)			19	36					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939085	67939085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67939085C>T	ENST00000304363.4	-	7	1098	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	249	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D249N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413000													5	60					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932253	79932253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932253C>A	ENST00000373275.4	-	41	5480	c.5264G>T	c.(5263-5265)aGg>aTg	p.R1755M		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAAACAGTCCTCCTGCCTTG	0.403000													10	56					4.68919e-08	5.58064e-08	1	1	0
DOCK7	85440	broad.mit.edu	37	1	62979117	62979117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62979117G>T	ENST00000340370.5	-	32	4204	c.4187C>A	c.(4186-4188)cCt>cAt	p.P1396H	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1427					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCTCACCAGGAGGAGAAGC	0.413000													4	36					1.23904e-05	1.39987e-05	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736536	12736536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12736536G>A	ENST00000380682.1	+	16	4097	c.3591G>A	c.(3589-3591)aaG>aaA	p.K1197K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1197					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTGGCCAAGCGGATGTCAT	0.577000													16	160					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097377	160097377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160097377C>T	ENST00000361216.3	+	8	873	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R262W|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	262					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGAGACCGGACGGTGAT	0.592000													24	22					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904016	45904016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45904016G>T	ENST00000290208.7	-	4	1001	c.549C>A	c.(547-549)ttC>ttA	p.F183L	MRPL10_ENST00000351111.2_Missense_Mutation_p.F173L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F183L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	173					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGCGGCAGGAATGGCACAG	0.557000													24	39					1.1804e-14	1.50872e-14	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62758588	62758588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62758588C>T	ENST00000512091.1	+	9	2238	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LPHN3_ENST00000504896.1_Silent_p.S497S|LPHN3_ENST00000514996.1_Silent_p.S497S|LPHN3_ENST00000506746.1_Silent_p.S565S|LPHN3_ENST00000507625.1_Silent_p.S565S|LPHN3_ENST00000514591.1_Silent_p.S497S|LPHN3_ENST00000508693.1_Silent_p.S565S|LPHN3_ENST00000506720.1_Silent_p.S565S|LPHN3_ENST00000506700.1_Silent_p.S497S|LPHN3_ENST00000508946.1_Silent_p.S497S|LPHN3_ENST00000514157.1_Silent_p.S497S|LPHN3_ENST00000507164.1_Silent_p.S565S|LPHN3_ENST00000511324.1_Silent_p.S565S|LPHN3_ENST00000545650.1_Silent_p.S497S|LPHN3_ENST00000509896.1_Silent_p.S565S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	497					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCGAAGAGAGCTGTGAGGCTG	0.517000													11	19					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405278	7405278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7405278G>T	ENST00000322644.6	+	15	2808	c.2409G>T	c.(2407-2409)aaG>aaT	p.K803N		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	803					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTGGCTTCAAGCACCGGACTC	0.547000													16	40					5.03518e-11	6.25324e-11	1	1	0
LY6K	54742	broad.mit.edu	37	8	143784766	143784766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143784766G>A	ENST00000292430.6	+	3	892	c.475G>A	c.(475-477)Gca>Aca	p.A159T	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.A217T|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	159						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCATTGCAGCCGGCCT	0.577000													9	19					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882782	228882782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228882782C>T	ENST00000392056.3	-	7	2834	c.2788G>A	c.(2788-2790)Gcg>Acg	p.A930T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATTCTTCCGCAAAGTCTGTA	0.473000													12	135					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622000													5	54					3.59834e-05	4.01776e-05	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4032437	4032437	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4032437G>T	ENST00000337659.6	+	2	786	c.686G>T	c.(685-687)aGa>aTa	p.R229I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R215I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	229	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCATCCAAAAGAAGTAAGTCT	0.383000													72	128					3.13743e-37	4.22555e-37	1	1	0
AP2B1	163	broad.mit.edu	37	17	33966767	33966767	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33966767T>C	ENST00000262325.7	+	11	1978	c.1425T>C	c.(1423-1425)gaT>gaC	p.D475D	AP2B1_ENST00000592545.1_Silent_p.D437D|AP2B1_ENST00000537622.2_Silent_p.D475D|AP2B1_ENST00000538556.1_Silent_p.D418D|AP2B1_ENST00000312678.8_Silent_p.D475D|AP2B1_ENST00000589344.1_Silent_p.D475D|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	475					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTTTCACGATGAAAGCACCC	0.413000													5	69					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728765	51728765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51728765G>T	ENST00000262262.4	+	2	350	c.329G>T	c.(328-330)aGg>aTg	p.R110M	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R110M	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	110	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GACGCCAGGAGGAGGGATAAT	0.512000													7	52					8.12818e-05	8.99451e-05	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761689	96761689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761689C>T	ENST00000295266.4	+	1	451	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	130					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTTTCTGTCCGATCCATTCT	0.512000													16	50					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072157	34072157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34072157C>A	ENST00000382499.2	-	4	586	c.587G>T	c.(586-588)aGa>aTa	p.R196I	SYNJ1_ENST00000382491.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R196I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R157I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	157	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAGAAAAATCTATTATCAGT	0.383000													13	30					1.05317e-09	1.28483e-09	1	1	0
SH3BGR	6450	broad.mit.edu	37	21	40847093	40847093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40847093G>T	ENST00000333634.4	+	3	531	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SH3BGR_ENST00000380634.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380637.3_Missense_Mutation_p.E40D|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000458295.1_Missense_Mutation_p.E40D	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	151					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAAAAGAAGAGAATATTATTT	0.363000													4	44					0.000602214	0.000649039	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596375	58596375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58596375C>T	ENST00000240727.6	-	7	1609	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E404K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E268K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E460K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCGGCTCGTCAGCCCCA	0.736000													3	6					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38809772	38809772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38809772G>A	ENST00000420274.1	+	7	809	c.575G>A	c.(574-576)cGt>cAt	p.R192H	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R192H|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	192					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAGGCTGCCGTGCTTCCACT	0.582000													7	9					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187153431	187153431	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187153431A>T	ENST00000264690.6	+	3	396	c.209A>T	c.(208-210)gAc>gTc	p.D70V	KLKB1_ENST00000513864.1_Missense_Mutation_p.D70V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	70	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCAATCAATGACATGGAGAAA	0.398000													19	58					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934119	10934119	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10934119A>G	ENST00000298232.7	-	15	1171	c.802_splice	c.e15-1	p.S268_splice	TPTE_ENST00000342420.5_Splice_Site_p.S248_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S286_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	286	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCTCTTTCACCTAAAATAA	0.303000													9	180					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119462955	119462955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119462955G>A	ENST00000273390.5	+	14	1891	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CTGGCTGAGCGCCAGCGGCGG	0.582000													27	35					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053347	11053347	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053347C>A	ENST00000295082.1	+	1	1285	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCATCCTCCCCTTCTACGTGA	0.627000													10	30					0.00010058	0.000111121	1	1	0
PCDHB17	0	broad.mit.edu	37	5	140537043	140537043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140537043C>A	ENST00000539533.1	+	1	1467	c.1467C>A	c.(1465-1467)taC>taA	p.Y489*																								AGGTCACCTACTCGCTGCTGC	0.642000													8	76					5.18039e-06	5.91835e-06	1	1	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327415	28327415	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28327415G>T	ENST00000377255.3	+	3	349	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.D18Y|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	18					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTCTACAGAAGACCAGATGGA	0.547000													5	107					0.00116845	0.00124821	1	1	0
AREL1	9870	broad.mit.edu	37	14	75139581	75139581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75139581G>A	ENST00000356357.4	-	11	1890	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		ACTTTGGAATGTGGTCTTTTC	0.448000													10	137					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890729	113890729	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113890729G>A	ENST00000383673.2	-	2	541	c.111C>T	c.(109-111)tgC>tgT	p.C37C	DRD3_ENST00000460779.1_Silent_p.C37C|DRD3_ENST00000467632.1_Silent_p.C37C|DRD3_ENST00000295881.7_Silent_p.C37C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	37					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATGAGCGCGCAGTAGGAGA	0.612000													18	18					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181860	81181860	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81181860C>T	ENST00000525539.1	-	0	4855				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCGGGGACGGGTGTTCTG	0.567000													25	22					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557866	29557866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29557866G>T	ENST00000358273.4	+	24	3503	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	NF1_ENST00000356175.3_Missense_Mutation_p.K1040N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1040					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGGAATAAGATGGTAGAAT	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	21					0.004672	0.0049138	1	1	0
SLC10A3	8273	broad.mit.edu	37	X	153717057	153717057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153717057C>T	ENST00000263512.4	-	2	721	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SLC10A3_ENST00000393586.1_Missense_Mutation_p.E130K|SLC10A3_ENST00000369649.4_Missense_Mutation_p.E75K|SLC10A3_ENST00000393587.4_Missense_Mutation_p.E75K	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	75					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACTCAAACTCCATCACAGAG	0.632000													12	134					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152292042	152292042	+	Silent	SNP	G	G	A	rs149346205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152292042G>A	ENST00000243326.4	+	10	1626	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	RIF1_ENST00000430328.2_Silent_p.S381S|RIF1_ENST00000453091.2_Silent_p.S381S|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000444746.2_Silent_p.S381S|RIF1_ENST00000428287.2_Silent_p.S381S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	381					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGGCAATTCGTGTCATGTAG	0.368000													79	94					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10270410	10270410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10270410G>A	ENST00000340748.4	-	16	1391	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	DNMT1_ENST00000540357.1_Silent_p.L386L|DNMT1_ENST00000359526.4_Silent_p.L402L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	386	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AAGATGGACAGCTTCTCATTT	0.542000													32	49					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102102	58102102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58102102C>A	ENST00000597850.1	+	4	1138	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	ZIK1_ENST00000536878.2_Missense_Mutation_p.S295Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.S253Y|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACAAAACTCCAGCCTTGTT	0.453000													6	36					0.0215528	0.0221649	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158516907	158516907	+	Silent	SNP	G	G	A	rs3749847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516907G>A	ENST00000355585.4	+	27	4077	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	SYNJ2_ENST00000367122.2_Silent_p.P1289P|SYNJ2_ENST00000367112.1_Silent_p.P419P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGTACCCCCGAGGAGGAAGA	0.637000													29	40					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125092	71125092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125092C>T	ENST00000299213.8	-	3	845	c.775G>A	c.(775-777)Gcc>Acc	p.A259T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACGATGGCGCACTCCTGG	0.557000													15	34					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134504591	134504591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134504591G>A	ENST00000372195.1	-	7	1034	c.791C>T	c.(790-792)aCg>aTg	p.T264M	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T247M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T265M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	247					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CATCCCAGTCGTCTTGTTTAG	0.572000													5	78					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73578420	73578420	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73578420G>A	ENST00000261973.7	+	16	2487	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RBM25_ENST00000527432.1_Silent_p.K734K|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	734					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGAAGAAAAGCGTAAACACA	0.423000													43	71					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459650	92459650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92459650G>A	ENST00000370389.2	+	15	2831	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	BRDT_ENST00000399546.2_Missense_Mutation_p.C709Y|BRDT_ENST00000402388.1_Missense_Mutation_p.C709Y|BRDT_ENST00000394530.3_Missense_Mutation_p.C663Y|BRDT_ENST00000362005.3_Missense_Mutation_p.C709Y	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	709	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATAGGATATTGTGTGCAAGAC	0.343000													8	142					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	558622	558622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:558622C>T	ENST00000329451.3	-	3	365	c.303G>A	c.(301-303)ccG>ccA	p.P101P	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	101										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCTTGGGCGGAAGCCCCG	0.667000													5	6					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427475	21427475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21427475G>A	ENST00000307378.6	-	15	2441	c.1721C>T	c.(1720-1722)aCa>aTa	p.T574I	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T442I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T574I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T442I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	574					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTGTAAACATGTGGAATCCAT	0.358000													4	54					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161814	57161814	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57161814C>A	ENST00000371244.4	+	6	836	c.770C>A	c.(769-771)gCa>gAa	p.A257E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	257	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CTGAAACGAGCAACTATCAAA	0.378000													18	228					1.67942e-08	2.01326e-08	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258860	9258860	+	Silent	SNP	C	C	T	rs149491789	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9258860C>T	ENST00000383440.2	+	8	5783	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	ANKRD12_ENST00000262126.3_Silent_p.D1865D|ANKRD12_ENST00000400020.3_Silent_p.D1842D	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1865						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363000													34	76					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134493435	134493435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134493435T>C	ENST00000367858.5	-	10	1564	c.967A>G	c.(967-969)Att>Gtt	p.I323V	SGK1_ENST00000475719.2_Missense_Mutation_p.I184V|SGK1_ENST00000413996.3_Missense_Mutation_p.I242V|SGK1_ENST00000237305.7_Missense_Mutation_p.I228V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.I256V|SGK1_ENST00000367857.5_Missense_Mutation_p.I218V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	228	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTAGCAAAATATTCTCTGGT	0.383000													44	87					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810927	50810927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50810927C>T	ENST00000263046.4	+	8	1398	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	TFAP2B_ENST00000393655.3_Missense_Mutation_p.T402M			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	402				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCTCATCACGCACGGCTTC	0.632000													35	56					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661424	44661424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661424C>A	ENST00000426739.2	+	6	1513	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	ZNF234_ENST00000592437.1_Missense_Mutation_p.L419M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAGTGCATCTGGTAGTCCA	0.418000													8	22					5.18039e-06	5.91835e-06	1	1	0
NBAS	51594	broad.mit.edu	37	2	15378705	15378705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15378705C>T	ENST00000281513.5	-	45	5855	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	NBAS_ENST00000441750.1_Missense_Mutation_p.A1824T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1944								p.A1944T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATCCTTAGCTTCTTGAGCT	0.413000													31	47					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176010	57176010	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57176010C>T	ENST00000537055.2	-	2	788	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCCAGTGGGA	0.721000													5	10					0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67132614	67132614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67132614C>T	ENST00000312438.7	-	3	868	c.671G>A	c.(670-672)gGc>gAc	p.G224D	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Missense_Mutation_p.G214D|CLCF1_ENST00000533438.1_Missense_Mutation_p.G214D	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	224					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCAGAAGCCATGAGCCCC	0.597000													17	38					0	0	1	0	0
PCDHAC1	0	broad.mit.edu	37	5	140308746	140308746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140308746C>T	ENST00000253807.2	+	1	2269	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R757W|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTCTATCGGGCCTCTCT	0.473000													34	57					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812281	133812281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133812281C>A	ENST00000285928.2	+	1	230	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	54							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAGGCAGCTCTAACATAGCC	0.597000													8	87					0.0381472	0.0390147	1	1	0
TAZ	6901	broad.mit.edu	37	X	153648459	153648459	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648459G>A	ENST00000369776.4	+	5	550	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACAGAGAGATGGCATCTG	0.647000													5	143					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863776	108863776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108863776C>A	ENST00000329106.2	+	1	126	c.126C>A	c.(124-126)ttC>ttA	p.F42L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.F42L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	42						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATGTAATTTCCAAGCCAAGC	0.358000													32	47					8.16721e-17	1.05573e-16	1	1	0
JAG1	182	broad.mit.edu	37	20	10625533	10625533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625533C>T	ENST00000254958.5	-	18	2837	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.W615*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	774	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGGCCCCTCCCAGCCTTCCT	0.587000									Alagille Syndrome				10	140					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31912542	31912542	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31912542C>A	ENST00000456570.1	+	13	1537	c.1482C>A	c.(1480-1482)acC>acA	p.T494T	CFB_ENST00000556679.1_Silent_p.T494T|CFB_ENST00000477310.1_Silent_p.T418T|C2_ENST00000452323.2_Silent_p.T433T|C2_ENST00000442278.2_Silent_p.T515T|C2_ENST00000299367.5_Silent_p.T647T|C2_ENST00000468407.1_3'UTR|C2_ENST00000469372.1_Silent_p.T401T			P00751	CFAB_HUMAN	complement factor B	664	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGAAAAAACCATGTTCCCCA	0.567000													4	55					0.150653	0.152692	1	1	0
GRIA4	0	broad.mit.edu	37	11	105845055	105845055	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105845055A>T	ENST00000393127.2	+	16	2874	c.2428A>T	c.(2428-2430)Agc>Tgc	p.S810C	GRIA4_ENST00000530497.1_Missense_Mutation_p.S810C|GRIA4_ENST00000282499.5_Missense_Mutation_p.S810C|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.S810C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	810					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGTGCCTTGAGCCTGAGCAA	0.473000													11	109					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834869	27834869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27834869C>T	ENST00000331442.3	-	1	490	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	147					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTTTCGCCCCTGCAGCCTTC	0.637000													6	182					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930126	46930126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930126G>A	ENST00000262738.3	-	1	2941	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A981V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	981	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTACCGAGGCGCTAAGGGG	0.567000													27	37					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61662612	61662612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61662612G>A	ENST00000310827.4	+	7	995	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	DCAF7_ENST00000415273.2_Missense_Mutation_p.A60T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	260					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CACACCTGTCGCCAGGTTAAA	0.473000													29	52					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91436526	91436526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91436526G>A	ENST00000328850.3	+	16	2069	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	FES_ENST00000444422.2_Missense_Mutation_p.D573N|FES_ENST00000394300.3_Missense_Mutation_p.D585N|FES_ENST00000394302.1_Missense_Mutation_p.D502N|FES_ENST00000450438.2_Missense_Mutation_p.D515N|FES_ENST00000414248.2_Missense_Mutation_p.D515N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	643	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGGGGCGACTTCCTGAC	0.687000													6	8					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125719414	125719414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125719414G>A	ENST00000373647.4	+	2	210	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	26					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAAGATTTTGTCTTGGTTTC	0.383000													12	17					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145112765G>A	ENST00000426825.1	-	9	1231	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.R384C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TTACCTTTGCGGTAGCAGGCG	0.662000													7	14					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25745123	25745123	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25745123G>A	ENST00000357816.2	-	2	1110	c.635C>T	c.(634-636)gCg>gTg	p.A212V	AMER2_ENST00000381853.3_Missense_Mutation_p.A212V|AMER2_ENST00000515384.1_Missense_Mutation_p.A212V					APC membrane recruitment protein 2																		cgcggccTCCGCCTTGGCCCG	0.726000													4	7					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826109	17826109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17826109G>A	ENST00000378814.5	-	16	1675	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KIF13A_ENST00000259711.6_Missense_Mutation_p.T559M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T559M|KIF13A_ENST00000378816.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T559M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	559					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCGGGCCCGTTTCTTTTTC	0.423000													41	88					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832637	31832637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31832637C>T	ENST00000544672.1	-	19	1950	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	SLC44A4_ENST00000229729.6_Missense_Mutation_p.D628N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D586N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTCTTAAAGTCTTTACCCAGC	0.552000													8	17					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49195866	49195866	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49195866G>A	ENST00000406846.2	-	9	944	c.825C>T	c.(823-825)tgC>tgT	p.C275C	FSHR_ENST00000541117.1_Silent_p.C11C|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Silent_p.C249C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	275					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAAAGGCACAGCAATGGCTGG	0.493000									Gonadal Dysgenesis, 46 XX				17	28					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132571244	132571244	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132571244G>A	ENST00000259339.2	+	4	762	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	234					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGGAAGAAAGAGGGAAGACA	0.458000													30	43					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72424111	72424111	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72424111C>A	ENST00000393605.3	-	0	85				ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000429686.1_Intron			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AAGGGGAAGCCTCCCGGGAAA	0.652000													3	16					1	1	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124906141	124906141	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124906141G>T	ENST00000423114.2	-	4	416	c.417C>A	c.(415-417)atC>atA	p.I139I	SLC12A8_ENST00000469902.1_Silent_p.I110I|SLC12A8_ENST00000393469.4_Silent_p.I110I|SLC12A8_ENST00000314584.7_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	110					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGACCGAGGAGATCATGGAGT	0.662000													16	23					1.52009e-12	1.91418e-12	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170395324	170395324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170395324G>A	ENST00000523189.1	+	14	1817	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	551					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTCTGTGGTTCTTGGATC	0.348000			T	TRD@	ALL								37	37					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1209931	1209931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1209931C>T	ENST00000382952.3	-	6	961	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CTBP1_ENST00000290921.6_Missense_Mutation_p.D204N	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	204					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AAGTAAGGGTCGTAGAAGAGC	0.652000													11	7					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039275	58039275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039275A>G	ENST00000299766.3	-	1	726	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	103			V -> I (in dbSNP:rs2229616).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGGGTGATGACAATGGTTTC	0.433000													33	55					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773468	145773468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145773468G>A	ENST00000276826.5	-	4	1203	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ARHGAP39_ENST00000540274.1_Silent_p.F334F|ARHGAP39_ENST00000377307.2_Silent_p.F334F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	334	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCAGCCTCGAATTGCACGT	0.706000													15	29					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121483485	121483485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121483485C>T	ENST00000260197.7	+	40	5492	c.5363C>T	c.(5362-5364)aCc>aTc	p.T1788I	SORL1_ENST00000534286.1_Missense_Mutation_p.T698I|SORL1_ENST00000527934.1_Missense_Mutation_p.T403I|SORL1_ENST00000525532.1_Missense_Mutation_p.T732I|SORL1_ENST00000532694.1_Missense_Mutation_p.T634I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1788	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGACACCCACAAGCAA	0.468000													12	17					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110002938	110002938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110002938C>T	ENST00000545712.2	-	4	727	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MMAB_ENST00000540016.1_Missense_Mutation_p.E60K|MMAB_ENST00000266839.5_Missense_Mutation_p.E21K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	112					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTCTTCGGCAAATGTA	0.473000													61	120					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5529774	5529774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5529774C>T	ENST00000453700.3	-	5	2187	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	690									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCTCGAGACGTCCTGGCTG	0.607000													4	14					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319719	55319719	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319719G>A	ENST00000371269.3	-	7	1307	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	DHCR24_ENST00000535035.1_Silent_p.N362N|DHCR24_ENST00000537443.1_Silent_p.N187N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	403					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CGTGGATGTCGTTTTGGAAGG	0.627000													3	9					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196386837	196386837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196386837G>A	ENST00000328557.4	+	3	526	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGTCACCTGCGCAGCCTGGTC	0.672000													9	22					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26168350	26168350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26168350G>T	ENST00000335473.7	+	7	1992	c.1742G>T	c.(1741-1743)aGt>aTt	p.S581I	MYO18B_ENST00000536101.1_Missense_Mutation_p.S581I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S581I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	581	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTCATCAGTGTCAACGAA	0.597000													34	49					4.42602e-33	5.94339e-33	1	1	0
RB1	5925	broad.mit.edu	37	13	49047522	49047522	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49047522T>C	ENST00000267163.4	+	24	2654	c.2516T>C	c.(2515-2517)tTc>tCc	p.F839S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	839	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R830fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGAATCATTCGGGGTGAGT	0.264000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			3	93					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781028	38781028	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38781028G>T	ENST00000449082.2	-	14	2257	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCAGCACAGACAGGCTTCC	0.512000													8	14					9.70103e-10	1.18443e-09	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13873665	13873665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13873665C>A	ENST00000586600.1	+	11	1477	c.974C>A	c.(973-975)gCt>gAt	p.A325D	CCDC130_ENST00000221554.8_Missense_Mutation_p.A325D|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	325					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCAGAGGAGGCTGCCCAGGAC	0.701000													3	8					0.004672	0.0049138	1	1	0
NT5C3B	115024	broad.mit.edu	37	17	39991363	39991363	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39991363G>T	ENST00000269534.8	-	4	264	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	NT5C3B_ENST00000435506.2_Missense_Mutation_p.L63M|NT5C3B_ENST00000521789.1_Missense_Mutation_p.L30M	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		CTATTATCCAGAATATCTGGA	0.428000													7	113					0.00448238	0.00472561	1	1	0
CUX2	23316	broad.mit.edu	37	12	111748382	111748382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111748382G>A	ENST00000261726.6	+	15	1950	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGCCCTGGCGCAAGCTCACG	0.607000													6	68					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50828611	50828611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50828611C>T	ENST00000395562.2	+	5	873	c.404C>T	c.(403-405)gCc>gTc	p.A135V	CHAT_ENST00000455728.2_Missense_Mutation_p.A99V|CHAT_ENST00000395559.2_Missense_Mutation_p.A99V|CHAT_ENST00000337653.2_Missense_Mutation_p.A217V|CHAT_ENST00000351556.3_Missense_Mutation_p.A99V|CHAT_ENST00000339797.1_Missense_Mutation_p.A99V|CHAT_ENST00000460699.1_3'UTR	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCAGCCCTGCCGTGATCTTT	0.617000													34	49					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56708994	56708994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56708994C>T	ENST00000273308.4	-	2	548	c.8G>A	c.(7-9)gGc>gAc	p.G3D	CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G3D	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	3						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CCAACCCCAGCCTTTCATCTT	0.577000													4	38					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57082683	57082683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57082683G>A	ENST00000261556.6	+	8	1001	c.879G>A	c.(877-879)agG>agA	p.R293R	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Silent_p.R293R	NM_017799.3	NP_060269.3			transmembrane protein 260																		CAAATATGAGGACCGAACTCT	0.318000													38	60					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424200	88424200	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88424200A>T	ENST00000297203.2	-	2	242	c.57T>A	c.(55-57)ccT>ccA	p.P19P	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	19										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAAAAAGAAGAGGTTCCAGTG	0.413000													8	131					0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780695	128780695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128780695G>A	ENST00000307395.4	+	3	335	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	38	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGGTGGACTGCAGGGGCCAC	0.697000													6	6					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339248	72339248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72339248C>T	ENST00000389916.4	+	5	543	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	135	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCGTGCCATCGAGGAGACCA	0.597000													11	21					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165066	98165066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98165066G>T	ENST00000370192.3	-	6	621	c.521C>A	c.(520-522)cCt>cAt	p.P174H	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGCAGCGAAGGATTTCTGAT	0.403000													62	241					3.89499e-28	5.20396e-28	1	1	0
ACR	49	broad.mit.edu	37	22	51182575	51182575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51182575C>T	ENST00000216139.5	+	4	692	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	218	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTACAATGGGCGCGTTCAGCC	0.572000													6	94					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160229666	160229666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160229666G>A	ENST00000392783.2	-	27	4598	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1332V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1268V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1334V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAGTGAGACGCATCAAAGAG	0.398000													38	46					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17889000	17889000	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17889000G>A	ENST00000594202.1	+	19	1593	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P|FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P|FCHO1_ENST00000539407.1_Silent_p.P438P|FCHO1_ENST00000596536.1_Silent_p.P438P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	438										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572000													22	30					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219766	155219766	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219766G>T	ENST00000357232.3	-	18	4334	c.4335C>A	c.(4333-4335)acC>acA	p.T1445T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1445	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATGACAAGGGTAAAATTGC	0.438000													37	53					2.51541e-25	3.34296e-25	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92938235	92938235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92938235G>A	ENST00000544910.1	+	20	1859	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CCDC132_ENST00000305866.5_Missense_Mutation_p.G577R|CCDC132_ENST00000541136.1_Missense_Mutation_p.G388R|CCDC132_ENST00000317751.6_Missense_Mutation_p.G308R|CCDC132_ENST00000535481.1_Missense_Mutation_p.G297R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	577										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCAGACAGGAGATGGTCC	0.378000													53	39					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98852926	98852926	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98852926G>T	ENST00000477737.1	+	18	2706	c.2502G>T	c.(2500-2502)caG>caT	p.Q834H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	834										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAAGCCAGGTTTATGACC	0.433000													36	37					9.17885e-22	1.20931e-21	1	1	0
CDH13	1012	broad.mit.edu	37	16	83704395	83704395	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83704395T>G	ENST00000566620.1	+	9	1392	c.1101_splice	c.e9-1	p.F368_splice	CDH13_ENST00000268613.10_Splice_Site_p.F415_splice|CDH13_ENST00000428848.3_Splice_Site_p.F329_splice	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	368	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGTTTGCAGTTTCAAGCCAC	0.428000													7	20					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765489	49765489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49765489G>A	ENST00000492622.2	+	19	2500	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S732N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S676N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	732	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACATACAGCTTCAGACTA	0.378000													39	39					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884421	53884421	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53884421C>T	ENST00000467003.1	+	4	682	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.L197L|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GGATAATTTTCTGAATTATTC	0.373000													21	38					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148885022	148885022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148885022T>G	ENST00000377843.2	-	9	1473	c.994A>C	c.(994-996)Agt>Cgt	p.S332R	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S360R|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S129R|CSNK1A1_ENST00000504676.1_Intron|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S92R|CSNK1A1_ENST00000261798.5_Intron|CSNK1A1_ENST00000515435.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	332					cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTCATGTTACTCTTGGTTTTG	0.448000													23	43					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215876285	215876285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215876285T>G	ENST00000272895.7	-	17	2429	c.2210A>C	c.(2209-2211)gAa>gCa	p.E737A	ABCA12_ENST00000389661.4_Missense_Mutation_p.E419A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	737					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTAAATATTCAGTGGTAAT	0.403000													43	64					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113651	147113651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:147113651G>A	ENST00000383075.3	-	3	1188	c.676C>T	c.(676-678)Cga>Tga	p.R226*	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R226*|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R276*|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R264*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R226*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGTGAGTTCGTTTGTGTATT	0.557000													36	48					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998474	27998474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998474C>T	ENST00000441525.1	-	1	1092	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	326										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTTGTTACCACAACTTTTG	0.433000													39	41					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845091	65845091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65845091G>T	ENST00000395325.3	+	5	536	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E114*|DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E184*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	127	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTAGGTCTCAGAATGCAGTTG	0.453000													46	57					1.00001e-27	1.33502e-27	1	1	0
COG4	25839	broad.mit.edu	37	16	70516638	70516638	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70516638G>A	ENST00000323786.5	-	15	1935	c.1914C>T	c.(1912-1914)atC>atT	p.I638I		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	634	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAACCTCCTCGATGTTGTGGG	0.572000													13	14					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128305420	128305420	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128305420A>G	ENST00000265960.3	-	7	1208	c.876T>C	c.(874-876)atT>atC	p.I292I	MAPKAP1_ENST00000350766.3_Silent_p.I292I|MAPKAP1_ENST00000373503.3_Silent_p.I100I|MAPKAP1_ENST00000373498.1_Silent_p.I292I|MAPKAP1_ENST00000373511.2_Silent_p.I292I|MAPKAP1_ENST00000394063.1_Silent_p.I100I|MAPKAP1_ENST00000373497.5_Silent_p.I41I|MAPKAP1_ENST00000394060.3_Silent_p.I292I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	292					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGTCCACCTGAATAAGGGAGA	0.393000													16	92					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142444029	142444029	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142444029G>T	ENST00000430863.1	-	0	4066					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGGAGGGGAAGGCGGTGGGTG	0.597000													3	7					0.115264	0.117355	1	1	0
ACAD8	27034	broad.mit.edu	37	11	134130998	134130998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134130998G>A	ENST00000281182.4	+	7	872	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	ACAD8_ENST00000374752.4_Missense_Mutation_p.A129T|ACAD8_ENST00000537423.1_Missense_Mutation_p.A179T|ACAD8_ENST00000543332.1_Missense_Mutation_p.A158T|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	256					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TGTCCCTGTGGCCAACAGAAT	0.572000													11	15					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133827913	133827913	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133827913A>C	ENST00000285928.2	+	4	655	c.586A>C	c.(586-588)Aag>Cag	p.K196Q		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	196							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAAAAACCTCAAGGTAGACTT	0.328000													4	147					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56536630	56536630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536630C>T	ENST00000394048.5	+	27	3164	c.2900C>T	c.(2899-2901)gCt>gTt	p.A967V	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.A977V|ESYT1_ENST00000267113.4_Missense_Mutation_p.A977V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	967						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCCTTGAGGCTCCAGCCGGG	0.517000													20	43					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274401	73274401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73274401G>A	ENST00000402418.3	-	4	1384	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SLC25A19_ENST00000375261.4_Missense_Mutation_p.R102C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R159C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R159C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	159						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACGGCGTGGCGCAGCGTATTA	0.567000													10	80					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169353660	169353660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169353660G>A	ENST00000511577.1	-	12	1709	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.H488Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.H488Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	488							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGAGCATGCCAGTGCAAA	0.343000													3	29					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68417568	68417568	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68417568C>A	ENST00000396591.3	+	13	2227	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	539					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTATCTGTGCCTTtagccatg	0.428000													3	18					6.4e-05	7.11719e-05	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44053537	44053537	+	Missense_Mutation	SNP	C	C	T	rs148186696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44053537C>T	ENST00000260645.1	-	6	897	c.758G>A	c.(757-759)cGt>cAt	p.R253H	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	253	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCTCAGAACGGGGCTGGTG	0.537000													21	32					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902764	22902764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22902764G>A	ENST00000166244.3	+	3	286	c.214G>A	c.(214-216)Gtt>Att	p.V72I	EPHA8_ENST00000374644.4_Missense_Mutation_p.V72I|EPHA8_ENST00000538803.1_Missense_Mutation_p.V72I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	72						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGTACCAGGTTTGCAACGT	0.602000													34	71					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224620	43224620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224620G>T	ENST00000236040.4	-	4	883	c.843C>A	c.(841-843)aaC>aaA	p.N281K	LEPRE1_ENST00000296388.5_Missense_Mutation_p.N281K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.N281K	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	281					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGACACAGTTCTGCTTAC	0.418000													25	57					1.17739e-12	1.48344e-12	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233408362	233408362	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233408362T>A	ENST00000389494.3	+	9	1009	c.988T>A	c.(988-990)Tcc>Acc	p.S330T	CHRNG_ENST00000389492.3_Missense_Mutation_p.S278T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	330					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTCAATGTCTCCTTGCGGTC	0.622000													14	21					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332438	70332438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70332438G>A	ENST00000338508.4	-	32	3962	c.3963C>T	c.(3961-3963)gaC>gaT	p.D1321D	SHANK2_ENST00000423696.2_Silent_p.D941D|SHANK2_ENST00000449833.2_Silent_p.D725D|SHANK2_ENST00000409161.1_Silent_p.D724D			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	941					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTAGTGGCGTCCACGGTGT	0.597000													4	90					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182144	91182144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91182144G>A	ENST00000370445.4	-	1	650	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	203						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATTTGATGTCGCTCTGGGAAT	0.607000													21	83					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119662179	119662179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119662179C>A	ENST00000379735.5	-	16	2283	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I	SEC24D_ENST00000511481.1_Missense_Mutation_p.R301I|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R226I|SEC24D_ENST00000280551.6_Missense_Mutation_p.R670I|SEC24D_ENST00000419654.2_Missense_Mutation_p.R226I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	670					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAATTGTTGTCTATCCAAGTG	0.308000													10	5					0.000442599	0.00048047	1	1	0
SGSM3	27352	broad.mit.edu	37	22	40805486	40805486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40805486C>T	ENST00000248929.9	+	21	2318	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	710	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGCTGCTTTGCCTTCAGCCTC	0.627000													38	59					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121084	29121084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121084G>A	ENST00000382580.2	-	5	677	c.602C>T	c.(601-603)gCa>gTa	p.A201V	CHEK2_ENST00000328354.6_Missense_Mutation_p.A158V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.A158V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A158V|CHEK2_ENST00000382566.1_Missense_Mutation_p.A158V|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.A158V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A158V	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	158					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTATGTATGCAATGTAAGA	0.348000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					21	71					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128859	38128859	+	Nonsense_Mutation	SNP	G	G	A	rs146448211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128859G>A	ENST00000399120.1	-	11	3223	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	HLCS_ENST00000336648.3_Nonsense_Mutation_p.R665*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	665					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACCCAGTATCGGTAATAAAGG	0.408000													36	54					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738320	229738320	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738320G>A	ENST00000366675.3	-	4	682	c.594C>T	c.(592-594)gaC>gaT	p.D198D	TAF5L_ENST00000258281.2_Silent_p.D198D|TAF5L_ENST00000366676.1_Silent_p.D198D	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	198					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGCTGCACGTCAAGATGAA	0.527000													30	45					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40572205	40572205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40572205C>T	ENST00000342449.3	-	39	4771	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	BRWD1_ENST00000333229.2_Missense_Mutation_p.G1565R|BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGATAGCCCACTGCGTGAG	0.438000													31	57					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155740923	155740923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155740923C>T	ENST00000437809.1	-	19	2703	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	GON4L_ENST00000361040.5_Missense_Mutation_p.A861T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.A861T|GON4L_ENST00000368331.1_Missense_Mutation_p.A861T			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTGGTGGGCAGTTTTGCAG	0.443000													37	71					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49849917	49849917	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849917T>A	ENST00000333486.3	-	6	776	c.618A>T	c.(616-618)ggA>ggT	p.G206G	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACCAAGTCTCCATCACGGA	0.567000													5	50					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51190044	51190044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51190044C>T	ENST00000293441.1	-	19	2433	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SHANK1_ENST00000391813.1_Silent_p.V192V|SHANK1_ENST00000359082.3_Silent_p.V796V|SHANK1_ENST00000391814.1_Silent_p.V813V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	805					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCATGCTGGGCACCGGCGCCG	0.711000													7	17					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714129	150714129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714129C>T	ENST00000605938.1	-	9	2358	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	ATG9B_ENST00000377974.2_Silent_p.S761S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.S247S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	761					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCAGGGGCGAGGTGCAGT	0.652000													6	11					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197249573	197249573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197249573C>T	ENST00000392379.1	-	6	748	c.347G>A	c.(346-348)aGc>aAc	p.S116N	BDH1_ENST00000441275.1_Missense_Mutation_p.S29N|BDH1_ENST00000358186.2_Missense_Mutation_p.S116N|BDH1_ENST00000392378.2_Missense_Mutation_p.S116N	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	116				CS -> FR (in Ref. 1; AAA58352).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTCTTCGCTGCTGCAGACATT	0.582000													20	34					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121582687	121582687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121582687C>T	ENST00000361976.2	+	18	2303	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	713							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408000													24	39					0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32130594	32130594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32130594G>A	ENST00000324816.6	+	9	1344	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R259Q|PPT2_ENST00000361568.2_Missense_Mutation_p.R265Q|PPT2_ENST00000395523.1_Missense_Mutation_p.R259Q|PPT2_ENST00000375143.2_Missense_Mutation_p.R259Q|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	259					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R265L(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTTTATCTGCGGGATTCTTTT	0.557000													79	95					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626631	187626631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187626631C>T	ENST00000304698.5	+	8	1765	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	521						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGAGGAGGCGTATGGGCGT	0.413000													7	19					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046569	38046569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38046569G>T	ENST00000599616.1	+	14	1243	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	SH3BP1_ENST00000357436.4_Missense_Mutation_p.G479C|SH3BP1_ENST00000442465.2_3'UTR|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	479	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAACGTGTCAGGCCTCTTCTC	0.632000													19	29					3.62473e-10	4.44982e-10	1	1	0
RYK	6259	broad.mit.edu	37	3	133896788	133896788	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133896788T>C	ENST00000427044.2	-	12	1345	c.735A>G	c.(733-735)ccA>ccG	p.P245P	RYK_ENST00000296084.4_Silent_p.P435P			P34925	RYK_HUMAN	receptor-like tyrosine kinase	431					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TTCTCACCTGTGGATTATTGG	0.328000													4	44					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3592765	3592765	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3592765T>C	ENST00000301749.7	-	0	3355				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGGCATTTCCTCTTAAG	0.557000													3	9					0	0	1	0	0
LINC00471	0	broad.mit.edu	37	2	232378330	232378330	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232378330C>A	ENST00000313064.2	-	0	271					NR_024079.1																						TTCAGTTCACCTTGACCTTTT	0.413000													5	50					0.014758	0.0152625	1	1	0
STOML2	30968	broad.mit.edu	37	9	35100655	35100655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35100655C>A	ENST00000356493.5	-	9	935	c.873G>T	c.(871-873)aaG>aaT	p.K291N	STOML2_ENST00000452248.2_Missense_Mutation_p.K246N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	291						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTTGGAGTCCTTGGCCAGTT	0.547000													43	95					7.05121e-23	9.31834e-23	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45427309	45427309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45427309C>T	ENST00000321429.4	+	6	722	c.315C>T	c.(313-315)caC>caT	p.H105H	DUOX1_ENST00000389037.3_Silent_p.H105H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	105	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCTATCACGTGCTTTCAG	0.617000													5	39					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16689991	16689991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16689991C>T	ENST00000513610.1	-	28	4292	c.3838G>A	c.(3838-3840)Gac>Aac	p.D1280N	MYO10_ENST00000505695.1_Missense_Mutation_p.D619N|MYO10_ENST00000515803.1_Missense_Mutation_p.D619N|MYO10_ENST00000274203.9_Missense_Mutation_p.D637N|MYO10_ENST00000427430.2_Missense_Mutation_p.D637N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1280	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATAATGATGTCGATCCCATTC	0.463000													26	32					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70652425	70652425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70652425G>A	ENST00000298596.6	+	4	2986	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D	STOX1_ENST00000399165.4_3'UTR|STOX1_ENST00000399169.4_Missense_Mutation_p.G968D|STOX1_ENST00000399162.2_3'UTR|STOX1_ENST00000421961.2_Missense_Mutation_p.G858D	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	968						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AATGTCGAAGGCACAAAGAGC	0.333000													30	47					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909844	52909844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909844G>T	ENST00000391788.2	+	6	712	c.189G>T	c.(187-189)gaG>gaT	p.E63D	ZNF528_ENST00000598192.1_Missense_Mutation_p.E73D|ZNF528_ENST00000360465.3_Missense_Mutation_p.E73D|ZNF528_ENST00000594530.1_Missense_Mutation_p.E73D			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAGTGAAGAGAAAATAGCAA	0.443000													15	51					4.14922e-12	5.2041e-12	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114196468	114196468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114196468C>T	ENST00000369615.1	+	15	2519	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	MAGI3_ENST00000369617.4_Silent_p.D844D|MAGI3_ENST00000307546.9_Silent_p.D819D|MAGI3_ENST00000369611.4_Silent_p.D819D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	844	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCCGAGGACGACAGCTCTC	0.478000													17	169					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955767	33955767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33955767C>T	ENST00000389232.4	+	36	5518	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	RYR3_ENST00000415757.3_Silent_p.D1816D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1816	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTCTGCGACTGTGAGCTGC	0.468000													6	20					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480611	25480611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480611C>A	ENST00000381884.4	-	7	1750	c.1565G>T	c.(1564-1566)gGt>gTt	p.G522V	CENPJ_ENST00000545981.1_Missense_Mutation_p.G522V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	522					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTCTTTACCTTGTGTCTT	0.443000													37	50					3.33393e-15	4.27331e-15	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356641	42356641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356641C>T	ENST00000554171.1	+	5	3245	c.813C>T	c.(811-813)ggC>ggT	p.G271G	LRFN5_ENST00000298119.4_Silent_p.G271G|LRFN5_ENST00000554120.1_Silent_p.G271G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	271	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTTAACTGGCCGCTACTTTT	0.468000										HNSCC(30;0.082)			48	72					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476213	21476213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21476213G>T	ENST00000356929.3	-	4	1752	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTTTCATAAGGGTTGAGGAC	0.368000													7	50					8.12818e-05	8.99451e-05	1	1	0
SEPP1	6414	broad.mit.edu	37	5	42801096	42801096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801096G>A	ENST00000514985.1	-	5	1128	c.872C>T	c.(871-873)aCa>aTa	p.T291I	SEPP1_ENST00000506577.1_Missense_Mutation_p.T291I|SEPP1_ENST00000511224.1_Missense_Mutation_p.T291I|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	291					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCTGAATCTGTGGGCAATTT	0.408000													32	57					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56468010	56468010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468010G>T	ENST00000370754.5	-	41	11050	c.11051C>A	c.(11050-11052)tCt>tAt	p.S3684Y	DST_ENST00000312431.6_Missense_Mutation_p.S3506Y|DST_ENST00000370769.4_Missense_Mutation_p.S3506Y|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3506Y|DST_ENST00000446842.2_Missense_Mutation_p.S3180Y			Q03001	DYST_HUMAN	dystonin	3506					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACCATTTCAGAGTCGATCGC	0.363000													5	15					0.014758	0.0152625	1	1	0
NDUFAF1	51103	broad.mit.edu	37	15	41688736	41688736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41688736G>A	ENST00000260361.4	-	2	903	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	174					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAGACTCCCCGTCCTGAGGCG	0.488000													19	36					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873891	31873891	+	Silent	SNP	G	G	A	rs34388907	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31873891G>A	ENST00000253354.1	+	2	173	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	4						extracellular space	lipid binding										TGGCCGGCCCGTGGACCTTCA	0.617000													21	33					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35089995	35089995	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35089995G>T	ENST00000311875.5	-	5	933	c.516C>A	c.(514-516)ctC>ctA	p.L172L	TCP11_ENST00000444780.2_Silent_p.L167L|TCP11_ENST00000412155.2_Silent_p.L121L|TCP11_ENST00000418521.2_Silent_p.L96L|TCP11_ENST00000373974.4_Silent_p.L126L|TCP11_ENST00000244645.3_Silent_p.L97L|TCP11_ENST00000512012.1_Silent_p.L159L|TCP11_ENST00000373979.2_Silent_p.L97L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	159					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CGTACTTAGAGAGATAGAGGA	0.483000													5	99					0.000602214	0.000649039	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53865487	53865487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865487G>A	ENST00000603815.1	+	14	1307	c.957G>A	c.(955-957)gcG>gcA	p.A319A	PCBP2_ENST00000455667.3_Silent_p.A272A|PCBP2_ENST00000548933.1_Silent_p.A289A|PCBP2_ENST00000359282.5_Silent_p.A285A|PCBP2_ENST00000437231.1_Silent_p.A272A|PCBP2_ENST00000359462.5_Silent_p.A320A|PCBP2_ENST00000552296.2_Silent_p.A315A|PCBP2_ENST00000552819.1_Silent_p.A276A|PCBP2_ENST00000439930.3_Silent_p.A319A|PCBP2_ENST00000447282.1_Silent_p.A289A|PCBP2_ENST00000549863.1_Silent_p.A275A|PCBP2_ENST00000546463.1_Silent_p.A316A	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	319	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCTGGGGCGCAGATCAAAA	0.473000													19	18					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58313629	58313629	+	Missense_Mutation	SNP	G	G	A	rs146122026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58313629G>A	ENST00000219299.4	+	9	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	361						protein complex		p.R361Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413000													15	19					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581603	7581603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581603T>C	ENST00000379802.3	+	23	5521	c.5180T>C	c.(5179-5181)cTg>cCg	p.L1727P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1727	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGCGGAACCTGAGGCTGGAG	0.473000													53	58					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702265	8702265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702265G>A	ENST00000329805.4	-	1	402	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	58						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGAAGGCAGCGATTAGGTGCT	0.652000													32	37					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93157910	93157910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93157910G>A	ENST00000344636.3	+	10	1058	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	292	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.D292N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413000													60	93					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6173015	6173015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6173015C>A	ENST00000262450.3	-	34	5055	c.4956G>T	c.(4954-4956)gaG>gaT	p.E1652D	CHD5_ENST00000378021.1_Missense_Mutation_p.E509D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAAGCTCAGCTCCAGCTTGT	0.577000													29	46					2.85442e-18	3.71821e-18	1	1	0
AGPAT4	56895	broad.mit.edu	37	6	161587376	161587376	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161587376C>T	ENST00000320285.4	-	3	464	c.252G>A	c.(250-252)aaG>aaA	p.K84K	AGPAT4_ENST00000366905.3_Silent_p.K84K|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Silent_p.K22K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.K84K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	84					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCTTCCCATACTTGAGGTAGG	0.532000													4	49					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690956	109690956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690956C>T	ENST00000277225.5	+	3	5052	c.4763C>T	c.(4762-4764)aCt>aTt	p.T1588I	ZNF462_ENST00000441147.2_Missense_Mutation_p.T433I|ZNF462_ENST00000457913.1_Missense_Mutation_p.T1588I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACACGGCACTTTGGAGAAA	0.527000													20	39					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64916229	64916229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64916229C>T	ENST00000555709.1	+	24	2733	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000545908.1_Silent_p.A838A|MTHFD1_ENST00000216605.7_Silent_p.A838A|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	782	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTTTTGATGCCGTGAAGTGCA	0.547000													25	39					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12812258	12812258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12812258C>T	ENST00000425528.1	-	25	2953	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	TNPO2_ENST00000356861.5_Missense_Mutation_p.G856S|TNPO2_ENST00000588216.1_Missense_Mutation_p.G856S|TNPO2_ENST00000441499.1_Missense_Mutation_p.G856S|TNPO2_ENST00000592287.1_Missense_Mutation_p.G866S|TNPO2_ENST00000450764.2_Missense_Mutation_p.G856S			O14787	TNPO2_HUMAN	transportin 2	866					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAAGCCGTGGAGAATC	0.592000													27	22					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95914946	95914946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95914946C>T	ENST00000258499.3	-	5	2054	c.1766G>A	c.(1765-1767)gGt>gAt	p.G589D	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G589D|USP44_ENST00000393091.2_Missense_Mutation_p.G589D	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	589					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACATGAACACCAATCTTCTC	0.428000													5	100					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765080	66765080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66765080G>A	ENST00000374690.3	+	1	616	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R31H|AR_ENST00000504326.1_Missense_Mutation_p.R31H	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGCGTGCGCGAAGTGATC	0.647000									Androgen Insensitivity Syndrome				15	32					0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50001210	50001210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50001210T>C	ENST00000270625.2	+	4	343	c.260T>C	c.(259-261)gTc>gCc	p.V87A	RPS11_ENST00000599561.1_Silent_p.C52C|RPS11_ENST00000594493.1_Missense_Mutation_p.V8A|RPS11_ENST00000596873.1_Missense_Mutation_p.V87A	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGGACCATTGTCATCCGCCGA	0.572000													9	34					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108357111	108357111	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108357111G>A	ENST00000263054.6	-	24	3270	c.3263C>T	c.(3262-3264)gCg>gTg	p.A1088V	SORCS1_ENST00000369698.1_Missense_Mutation_p.A623V|SORCS1_ENST00000344440.6_Missense_Mutation_p.A1088V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1088						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACACTGACCCGCTGTTAAGTG	0.517000													5	27					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57100454	57100454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57100454C>A	ENST00000278412.2	-	5	782	c.516G>T	c.(514-516)gaG>gaT	p.E172D		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	172					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CCACACCATCCTCCTGGGTGG	0.597000													4	94					1	1	1	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202483717	202483717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202483717G>A	ENST00000439140.1	-	1	181	c.137C>T	c.(136-138)tCg>tTg	p.S46L	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.S46L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	46										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGAAGCCTCCGACCCTTTAAT	0.602000													29	34					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2565976	2565976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2565976G>A	ENST00000222725.5	+	6	940	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LFNG_ENST00000402045.1_Missense_Mutation_p.R178H|LFNG_ENST00000359574.3_Missense_Mutation_p.R307H|LFNG_ENST00000402506.1_Missense_Mutation_p.R236H|LFNG_ENST00000338732.3_Missense_Mutation_p.R178H	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	307					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCCTCATCCGCAGCGGCCTC	0.667000													65	29					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151645	27151645	+	Silent	SNP	G	G	A	rs144594991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27151645G>A	ENST00000305364.4	-	3	797	c.714C>T	c.(712-714)atC>atT	p.I238I	TRIM35_ENST00000521253.1_Silent_p.I206I	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	238					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGCCGCTCGATCTCATGTG	0.552000													25	30					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355498	4355498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355498G>A	ENST00000430981.1	+	2	1083	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	SETMAR_ENST00000358065.4_Intron|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGAAGACAGTGGTTGGCTAGC	0.493000								Chromatin Structure					3	36					0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182353692	182353692	+	Missense_Mutation	SNP	G	G	A	rs80358214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182353692G>A	ENST00000311223.5	-	8	1866	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000331872.6_Missense_Mutation_p.R324C|GLUL_ENST00000417584.2_Missense_Mutation_p.R324C|GLUL_ENST00000339526.4_Missense_Mutation_p.R324C	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	324			R -> C (in CSGD; reduced glutamine synthetase activity).		cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CGGGGAATGCGTATGCTGGCG	0.552000													23	41					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701419	192701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192701419C>T	ENST00000304141.4	-	2	837	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	170						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCACAAACACGCTGGCAGGG	0.488000													14	15					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24673118	24673118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24673118C>T	ENST00000361548.4	+	13	1760	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	GRHL3_ENST00000236255.4_Silent_p.G515G|GRHL3_ENST00000356046.2_Silent_p.G464G|GRHL3_ENST00000350501.5_Silent_p.G510G|GRHL3_ENST00000342072.4_Silent_p.G417G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	510					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAAGGAAGGCGACCTTCAGA	0.632000													6	14					0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644558	644558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:644558C>T	ENST00000246104.6	-	2	1258	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						TGTGACCCTGCAGCAGCCAGG	0.692000													5	8					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912948	32912948	+	Missense_Mutation	SNP	G	G	A	rs80359450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912948G>A	ENST00000544455.1	+	11	4683	c.4456G>A	c.(4456-4458)Gtt>Att	p.V1486I	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1486I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1486					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACAGACATAGTTAAACACAA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	37					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18863864	18863864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18863864G>A	ENST00000317977.6	+	5	755	c.184G>A	c.(184-186)Gtc>Atc	p.V62I	SLC5A10_ENST00000395645.3_Missense_Mutation_p.V118I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V62I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V118I			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	118					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTCCCAGATCGTCACCTTACC	0.587000											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	72					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81970627	81970627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81970627G>A	ENST00000336735.4	-	5	648	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	SEL1L_ENST00000555824.1_Missense_Mutation_p.R178W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	178	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGCCGTCTCTTAGCA	0.353000													6	86					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2522446G>A	ENST00000288709.6	-	24	2536	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	FAM213B_ENST00000378424.4_3'UTR|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R775*|FAM213B_ENST00000378425.5_3'UTR|FAM213B_ENST00000444521.2_3'UTR|FAM213B_ENST00000484099.1_3'UTR|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R618*|FAM213B_ENST00000419916.2_3'UTR	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701000													6	7					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983521	19983521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19983521C>A	ENST00000379687.3	-	3	948	c.915G>T	c.(913-915)aaG>aaT	p.K305N	CXorf23_ENST00000379682.4_Missense_Mutation_p.K305N|CXorf23_ENST00000356980.3_Missense_Mutation_p.K305N	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	305						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATCTTCTTCCTTACAGTACT	0.403000													61	62					1.4709e-25	1.95621e-25	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112174796	112174796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112174796C>T	ENST00000455480.2	+	13	1972	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	ACAD10_ENST00000549590.1_Nonsense_Mutation_p.R568*|ACAD10_ENST00000313698.4_Nonsense_Mutation_p.R568*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.R170*|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	568							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTCTACAAGCGATCACTCAC	0.552000													20	37					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48608606	48608606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48608606C>A	ENST00000354276.3	-	3	431	c.104G>T	c.(103-105)aGg>aTg	p.R35M	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R45M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	35	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCCTCAATCCTTAGCTTCTT	0.557000													41	79					4.16155e-14	5.30191e-14	1	1	0
KRT79	338785	broad.mit.edu	37	12	53224077	53224077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53224077C>A	ENST00000330553.5	-	3	733		c.e3-1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCGTACCTGTTACACAT	0.567000													4	60					0.150653	0.152692	1	1	0
HOXA9	3205	broad.mit.edu	37	7	27203390	27203390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203390C>A	ENST00000343483.6	-	2	723	c.651G>T	c.(649-651)caG>caT	p.Q217H	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.Q57H|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	217							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GTTCCAGGGTCTGGTGTTTTG	0.552000			T	"""NUP98, MSI2"""	AML*								5	82					0.184627	0.186383	1	1	0
CEP85	64793	broad.mit.edu	37	1	26597551	26597551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26597551G>T	ENST00000252992.4	+	10	1827	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Nonsense_Mutation_p.E515*	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	566						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAAGGTCCAGAAGTGGAAAT	0.512000													17	22					6.49762e-13	8.19883e-13	1	1	0
CAPN11	11131	broad.mit.edu	37	6	44141025	44141025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44141025G>A	ENST00000398776.1	+	7	771	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	CAPN11_ENST00000542245.1_Missense_Mutation_p.V245M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	245	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACAGGAGGCGTGGCCCAGAG	0.597000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	64					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876321	27876321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876321G>A	ENST00000374011.2	-	6	3274	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A769V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	769	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTATCCCCGGCCCACTCAGC	0.667000													7	51					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911497	46911497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46911497G>A	ENST00000378623.1	-	15	2332	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	697					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTTTTTACCTGCAGGTTGGCG	0.517000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523854	42523854	+	Silent	SNP	C	C	T	rs79292917	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42523854C>T	ENST00000360608.5	-	6	1089	c.975G>A	c.(973-975)ccG>ccA	p.P325P	CYP2D6_ENST00000359033.4_Silent_p.P274P|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P325P	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	325							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGCACATCCGGATGTAGGA	0.627000													19	31					0	0	1	0	0
FAM66D	0	broad.mit.edu	37	8	11986358	11986358	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11986358C>T	ENST00000434078.2	+	0	608					NR_027425.1																						AAGTCAGCAGCCAATGCCTGT	0.537000													4	1					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41052903	41052903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41052903G>T	ENST00000253801.2	+	1	89	c.10G>T	c.(10-12)Gga>Tga	p.G4*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.G4*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.G4*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATGGAGGAAGGAATGAATGT	0.502000													4	38					0.150653	0.152692	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30976233	30976233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30976233G>T	ENST00000262519.8	+	7	1856	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACACGGGAGGAACCCCCTG	0.592000													62	144					2.17656e-39	2.93526e-39	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64606673	64606673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64606673C>T	ENST00000357395.3	+	81	15157	c.4013C>T	c.(4012-4014)tCg>tTg	p.S1338L	SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.S4953L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4953					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S4953L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378000													26	43					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8460414	8460414	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8460414T>G	ENST00000381196.4	-	30	4415	c.3872A>C	c.(3871-3873)aAa>aCa	p.K1291T	PTPRD_ENST00000356435.5_Missense_Mutation_p.K1291T|PTPRD_ENST00000355233.5_Missense_Mutation_p.K880T|PTPRD_ENST00000397606.3_Missense_Mutation_p.K870T|PTPRD_ENST00000397617.3_Missense_Mutation_p.K870T|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1291T|PTPRD_ENST00000397611.3_Missense_Mutation_p.K877T|PTPRD_ENST00000360074.4_Missense_Mutation_p.K1278T|PTPRD_ENST00000537002.1_Missense_Mutation_p.K877T|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1269T|PTPRD_ENST00000486161.1_Missense_Mutation_p.K880T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1291					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACCTACCTTTTATAAAGAAG	0.398000										TSP Lung(15;0.13)			30	47					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7495189	7495189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7495189C>T	ENST00000250113.7	-	17	2315	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	661						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCCAAGGGGGCGGAGAGCTCC	0.557000													6	27					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145626853	145626853	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145626853C>A	ENST00000349769.3	-	4	371	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	93					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGCAGGGCATCCCGCTTG	0.637000													7	15					0.00307968	0.00325696	1	1	0
FRMD6	122786	broad.mit.edu	37	14	52188733	52188733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188733G>A	ENST00000395718.2	+	12	1688	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N	FRMD6_ENST00000344768.5_Missense_Mutation_p.S476N|FRMD6_ENST00000554167.1_Missense_Mutation_p.S399N|FRMD6_ENST00000553556.1_Missense_Mutation_p.S118N|FRMD6_ENST00000356218.4_Missense_Mutation_p.S468N	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	476						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAGTCAGCCCAGACATG	0.468000													18	71					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41571057	41571057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41571057G>A	ENST00000262415.3	+	8	1087	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	DHX8_ENST00000540306.1_Missense_Mutation_p.D339N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	339						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTAGGATGTGGATCAAGAGAC	0.493000													92	110					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87076754C>A	ENST00000276616.2	-	2	366	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502000													29	61					7.38237e-10	9.02878e-10	1	1	0
RBL1	5933	broad.mit.edu	37	20	35627269	35627269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35627269C>A	ENST00000373664.3	-	22	3166	c.3100G>T	c.(3100-3102)Gcc>Tcc	p.A1034S		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1034					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTATCGATGGCTATTACTCGC	0.423000													22	74					7.87624e-14	1.00187e-13	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145947656	145947656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947656G>A	ENST00000292562.7	-	5	1664	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CACATTCAACGCACTGGTAGG	0.517000													13	30					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139269016	139269016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139269016T>C	ENST00000450536.2	-	2	762	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	REPS1_ENST00000409812.2_Missense_Mutation_p.Y63C|REPS1_ENST00000367663.4_Missense_Mutation_p.Y63C|REPS1_ENST00000415951.2_Missense_Mutation_p.Y63C|REPS1_ENST00000258062.5_Missense_Mutation_p.Y63C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	63	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCTTCCAAAATAACCAAGTCT	0.338000													19	30					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498000													17	28					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459617	66459617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66459617T>C	ENST00000404260.3	+	29	4927	c.4619T>C	c.(4618-4620)gTg>gCg	p.V1540A	MAST4_ENST00000403625.2_Missense_Mutation_p.V1537A|MAST4_ENST00000403666.1_Missense_Mutation_p.V1348A|MAST4_ENST00000405643.1_Missense_Mutation_p.V1358A|MAST4_ENST00000261569.7_Missense_Mutation_p.V1343A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1540						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAAGGTGGTGGTGAAGAAA	0.572000													6	5					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751629	125751629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125751629T>G	ENST00000373647.4	+	5	778	c.644T>G	c.(643-645)aTc>aGc	p.I215S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	215	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTACAAAATCCTCTTCTGT	0.393000													12	102					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202549852	202549852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202549852C>T	ENST00000409474.3	-	7	716	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPP4_ENST00000428900.2_Missense_Mutation_p.R170H|MPP4_ENST00000396886.3_Missense_Mutation_p.R126H|MPP4_ENST00000359962.5_Missense_Mutation_p.R170H|MPP4_ENST00000315506.7_Missense_Mutation_p.R170H|MPP4_ENST00000409143.1_Missense_Mutation_p.R143H|MPP4_ENST00000447335.2_Missense_Mutation_p.R170H	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	170	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CATCTCGTGGCGCTTGATGGT	0.547000													4	11					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107673881	107673881	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107673881G>A	ENST00000525071.1	-	10	1373	c.784_splice	c.e10-1	p.A262_splice	SLC35F2_ENST00000375682.4_Splice_Site_p.A215_splice|SLC35F2_ENST00000265836.7_Splice_Site_p.A114_splice|SLC35F2_ENST00000525815.1_Splice_Site_p.A262_splice|SLC35F2_ENST00000429869.1_Splice_Site_p.A262_splice			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	262					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAACAGCAGGGCTGTGGAAAA	0.428000													6	19					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593584	31593584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31593584C>T	ENST00000376033.2	+	8	1009	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L259F|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	259	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L259I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCCCATATCTCCCGTTCCC	0.562000													15	33					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167248987	167248987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167248987G>A	ENST00000308378.3	-	9	1383	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	WDR49_ENST00000476376.1_Missense_Mutation_p.R185C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R424C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAAGTTGCGGACTCCCGTG	0.438000													4	68					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546085	18546085	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18546085T>G	ENST00000545187.1	-	7	1299	c.1013A>C	c.(1012-1014)aAc>aCc	p.N338T	ISYNA1_ENST00000578963.1_Missense_Mutation_p.N360T|ISYNA1_ENST00000317018.6_Missense_Mutation_p.N286T|ISYNA1_ENST00000457269.3_Missense_Mutation_p.N434T|ISYNA1_ENST00000338128.7_Missense_Mutation_p.N488T			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	488					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCTGAGGATGTTCTCGATGCA	0.667000													6	52					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158630609	158630609	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158630609C>T	ENST00000263640.3	-	6	1063	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ACVR1_ENST00000410057.2_Missense_Mutation_p.E212K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E212K|ACVR1_ENST00000434821.1_Missense_Mutation_p.E212K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	212	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCGACACACTCCAACAGTGTA	0.378000													25	33					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31039046	31039046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31039046C>T	ENST00000318217.5	-	16	2385	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	MYO1D_ENST00000579584.1_Missense_Mutation_p.R694H|MYO1D_ENST00000394649.4_Missense_Mutation_p.R606H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	694						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATCTGGGCACGGAGTTCTTC	0.333000													51	76					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96112807	96112807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96112807T>G	ENST00000371361.3	-	7	804	c.704A>C	c.(703-705)aAa>aCa	p.K235T	NOC3L_ENST00000371350.1_Missense_Mutation_p.K235T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	235						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCTTTCAATTTTTTAATCTG	0.353000													10	98					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886363	23886363	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23886363G>T	ENST00000507380.1	-	2	323	c.246C>A	c.(244-246)tcC>tcA	p.S82S	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTTTCCAAAGGATGTCCTTA	0.383000													5	53					0.0215528	0.0221649	1	1	0
RNF219	79596	broad.mit.edu	37	13	79219113	79219113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79219113C>T	ENST00000282003.6	-	2	150	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	31							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTGTTGATGCATATGACAGG	0.378000													26	44					0	0	1	0	0
PCDHA13	0	broad.mit.edu	37	5	140261984	140261984	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140261984T>C	ENST00000289272.2	+	1	131	c.131T>C	c.(130-132)tTc>tCc	p.F44S	PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44S|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCACCTTCGTGGGCCGC	0.657000													5	112					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2094713	2094713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2094713G>A	ENST00000219066.1	-	3	485	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642000								Base excision repair (BER), DNA glycosylases					7	11					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95088767C>T	ENST00000553947.1	+	7	1970	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000467132.1_Missense_Mutation_p.A336V|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336				AVL -> VVS (in Ref. 1; AAA51543).	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502000													17	39					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40722196	40722196	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40722196C>A	ENST00000298910.7	+	39	5749	c.5691C>A	c.(5689-5691)gcC>gcA	p.A1897A		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1897	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCGAGCAGCCTATGAAGGAG	0.303000													16	24					4.96729e-08	5.9048e-08	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34825955C>A	ENST00000192788.5	+	14	1993	c.1822C>A	c.(1822-1824)Ctt>Att	p.L608I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L608I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	608										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCCCAGGCCCTTGTCTTCTC	0.498000													6	61					1	1	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579468	44579468	+	Silent	SNP	G	G	A	rs114482489	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44579468G>A	ENST00000289547.4	-	2	583	c.528C>T	c.(526-528)cgC>cgT	p.R176R	NPC1L1_ENST00000381160.3_Silent_p.R176R|NPC1L1_ENST00000423141.1_Silent_p.R176R|NPC1L1_ENST00000546276.1_Silent_p.R176R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	176					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAGGGACGCGCACACGGC	0.622000													18	45					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906238	43906238	+	Missense_Mutation	SNP	G	G	A	rs146294336		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43906238G>A	ENST00000562955.1	+	51	7154	c.7154G>A	c.(7153-7155)cGt>cAt	p.R2385H	SZT2_ENST00000372442.1_Missense_Mutation_p.R1543H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2442						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCGGGCCGGCGTAGCTTCTGG	0.597000													26	39					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105389183	105389183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105389183A>G	ENST00000264122.4	-	18	2904	c.2583T>C	c.(2581-2583)gaT>gaC	p.D861D	CBLB_ENST00000394027.3_Silent_p.D839D|CBLB_ENST00000407712.1_Silent_p.D76D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	861	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACTTGCTAGATCAACAAAGG	0.343000			Mis S		AML								16	27					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75525908	75525908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525908G>T	ENST00000339365.2	+	12	1709	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M	SEC24C_ENST00000411652.2_Missense_Mutation_p.R397M|SEC24C_ENST00000345254.4_Missense_Mutation_p.R516M|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	516					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AATGCCATCAGGACTGGTCTT	0.473000													16	90					3.52763e-06	4.04633e-06	1	1	0
ABHD17B	51104	broad.mit.edu	37	9	74489670	74489670	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489670G>A	ENST00000333421.6	-	2	438	c.327C>T	c.(325-327)agC>agT	p.S109S	ABHD17B_ENST00000377041.2_Silent_p.S109S	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		CTATGTAAAAGCTGCTCATTT	0.393000													13	96					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29006204G>T	ENST00000524189.1	-	16	1741	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463000													35	59					2.48696e-23	3.29125e-23	1	1	0
RGS3	5998	broad.mit.edu	37	9	116359132	116359132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116359132C>T	ENST00000374140.2	+	26	3705	c.3496C>T	c.(3496-3498)Cgc>Tgc	p.R1166C	RGS3_ENST00000350696.5_Missense_Mutation_p.R1166C|RGS3_ENST00000374134.3_Missense_Mutation_p.R487C|RGS3_ENST00000342620.5_Missense_Mutation_p.R136C|RGS3_ENST00000343817.5_Missense_Mutation_p.R885C|RGS3_ENST00000462403.1_Missense_Mutation_p.R279C|RGS3_ENST00000394646.3_Missense_Mutation_p.R559C|RGS3_ENST00000462143.1_Missense_Mutation_p.R487C	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1166	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCACAGAAGCGCATCTTCGG	0.582000													20	47					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15522425	15522425	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15522425C>T	ENST00000395906.3	-	1	401	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	134										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAGTATAATTCGCCTTGGTCC	0.433000													60	97					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186556	61186556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61186556C>T	ENST00000216513.4	-	2	1530	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	491						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGGCTGTTTGCTCCGGAATTG	0.483000													7	101					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45814910	45814910	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45814910C>A	ENST00000320560.8	+	18	2476	c.2274C>A	c.(2272-2274)tcC>tcA	p.S758S	ANO6_ENST00000425752.2_Silent_p.S758S|ANO6_ENST00000423947.3_Silent_p.S779S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.S758S|ANO6_ENST00000441606.2_Silent_p.S740S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	758					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACTACTGGTCCTTCTCCGTCC	0.453000													4	73					1	1	1	1	0
PRADC1	84279	broad.mit.edu	37	2	73457259	73457259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73457259C>A	ENST00000258083.2	-	2	217	c.150G>T	c.(148-150)aaG>aaT	p.K50N	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	50						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CACCAAAGTCCTTGGCAGGTG	0.502000													8	13					5.50884e-06	6.28354e-06	1	1	0
FNBP1L	54874	broad.mit.edu	37	1	94016649	94016649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94016649G>T	ENST00000260506.8	+	14	1774	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	FNBP1L_ENST00000271234.7_Missense_Mutation_p.E599D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E541D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E599D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E594D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	599	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAACTCTAGAGAAAAACAGTA	0.413000													11	29					9.70103e-10	1.18443e-09	1	1	0
LAS1L	81887	broad.mit.edu	37	X	64743531	64743531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64743531G>T	ENST00000374811.3	-	11	1397	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	LAS1L_ENST00000374804.5_Missense_Mutation_p.L394M|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L436M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	453						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGAACAGCCTCCAGCCC	0.592000													7	9					8.12818e-05	8.99451e-05	1	1	0
SLX4	84464	broad.mit.edu	37	16	3645675	3645675	+	Silent	SNP	G	G	A	rs149315267		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3645675G>A	ENST00000294008.3	-	9	2584	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	648	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGAAGGCCGCCGGGCACCA	0.622000								Direct reversal of damage					6	32					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892056	72892056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72892056G>A	ENST00000339594.4	-	7	2073	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R579W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	579					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCATACCGCTTCTGTTTT	0.438000													177	152					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560530	35560530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35560530G>A	ENST00000455600.1	+	10	4462	c.3893G>A	c.(3892-3894)aGc>aAc	p.S1298N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1298						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCAACAGCAGCAGCGAG	0.642000													22	36					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832680	42832680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42832680G>A	ENST00000314073.5	+	13	2912	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	GLTSCR1L_ENST00000394168.1_Silent_p.V912V					GLTSCR1-like																		TGGGCTTAGTGCAGTACCAGA	0.517000													18	21					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815864	46815864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815864C>T	ENST00000339613.2	+	8	1066	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000377670.4_Missense_Mutation_p.R327W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617000													42	56					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098658	155098658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155098658C>T	ENST00000392825.3	+	5	994	c.427C>T	c.(427-429)Cca>Tca	p.P143S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P143S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	143	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATCGTTCCCCACACTATCT	0.373000													4	81					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173721016	173721016	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173721016C>A	ENST00000209884.4	+	4	847	c.711C>A	c.(709-711)gcC>gcA	p.A237A	KLHL20_ENST00000546011.1_Silent_p.A48A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	237	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGATGGCCTGGGTCAAAT	0.428000													6	40					0.00198382	0.00210581	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47823105	47823105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47823105C>T	ENST00000254480.5	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	61					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTGTAGTGCTTGCCCAGCC	0.711000													4	9					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205229	104205229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104205229G>T	ENST00000202556.9	-	13	3006	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.I327I	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	908					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCACCTCATAGATGATCCTCT	0.647000													51	84					1.38658e-30	1.85817e-30	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18110971	18110971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18110971C>T	ENST00000524803.1	-	7	725	c.676G>A	c.(676-678)Gct>Act	p.A226T	SAAL1_ENST00000300013.4_Missense_Mutation_p.A226T|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.A226T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	226					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GGCTGAGCAGCCCCATTTCTG	0.493000													37	40					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340563	124340563	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124340563A>G	ENST00000287394.5	-	25	3842	c.3735T>C	c.(3733-3735)acT>acC	p.T1245T	ATAD2_ENST00000521903.1_Silent_p.T563T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATATTACAAGTATTTGAAT	0.378000													23	41					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716620	35716620	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716620T>C	ENST00000373866.3	+	6	1018	c.996T>C	c.(994-996)agT>agC	p.S332S	ARMC12_ENST00000288065.2_Silent_p.S359S|ARMC12_ENST00000373869.3_Silent_p.S322S			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	332							binding										GCCAGCCCAGTCGTTCCTACT	0.488000													9	24					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809367	148809367	+	Missense_Mutation	SNP	C	C	A	rs144417073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809367C>A	ENST00000378061.2	-	3	298	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	56	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATCAAATCTGGCTTGGAA	0.428000													114	129					1.46925e-46	1.98514e-46	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811803	23811803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23811803G>T	ENST00000314520.3	+	1	1350	c.874G>T	c.(874-876)Gca>Tca	p.A292S	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	292	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATTGAAGCACACGAGAA	0.522000													19	20					1.67942e-08	2.01326e-08	1	1	0
DNAJC21	134218	broad.mit.edu	37	5	34954715	34954715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34954715T>C	ENST00000382021.2	+	13	1854	c.1627T>C	c.(1627-1629)Ttt>Ctt	p.F543L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.F511L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.F498L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	498					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAATAAACTTTTTGACCATCT	0.388000													6	104					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22168809	22168809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22168809C>T	ENST00000374695.3	-	68	9054	c.8975G>A	c.(8974-8976)cGt>cAt	p.R2992H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2992	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGCTGCACGACACACATA	0.632000													10	16					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138971	126138971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126138971G>T	ENST00000393425.1	+	11	1083	c.984G>T	c.(982-984)tgG>tgT	p.W328C	CCDC37_ENST00000505024.1_Missense_Mutation_p.W328C|CCDC37_ENST00000352312.1_Missense_Mutation_p.W327C			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	327										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGCCCTGGAGGTTTCTGC	0.652000													16	12					6.72482e-11	8.32712e-11	1	1	0
FSCN2	25794	broad.mit.edu	37	17	79496251	79496251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79496251G>A	ENST00000417245.2	+	1	830	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	FSCN2_ENST00000334850.7_Missense_Mutation_p.V232M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	232					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCACCCGTGGGGCCCGC	0.662000													3	3					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277913	53277913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53277913C>A	ENST00000396435.3	-	6	2649	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	IQSEC2_ENST00000375365.2_Missense_Mutation_p.D612Y|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D807Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	807	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCAACACGTCTCTGTTGAAC	0.602000													5	58					0.0215528	0.0221649	1	1	0
PRKAG1	5571	broad.mit.edu	37	12	49396702	49396702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49396702C>A	ENST00000548065.1	-	12	1432	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G275C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G242C|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.G335C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G294C|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	326	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTCTCTCCACCTGTGAGCACC	0.542000													9	25					0.00829132	0.00869385	1	1	0
WASL	8976	broad.mit.edu	37	7	123332603	123332603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332603G>T	ENST00000223023.4	-	9	1477	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	382	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCCAGGAGGAGGTGGAGG	0.617000													26	68					1.75199e-13	2.22232e-13	1	1	0
OR5K2	402135	broad.mit.edu	37	3	98217292	98217292	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98217292T>G	ENST00000427338.1	+	1	845	c.768T>G	c.(766-768)ttT>ttG	p.F256L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTATTTTTTTCCTATACA	0.333000													4	62					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43190527	43190527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43190527G>A	ENST00000322765.5	-	14	2204	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	698	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCCGGGCACAGTCTGCGGGCA	0.627000													5	5					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401645	401645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612000			T	IGH@	MM								19	29					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653599	110653599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110653599C>T	ENST00000338081.3	-	2	442	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.E10K|DCX_ENST00000356915.2_Missense_Mutation_p.E10K|DCX_ENST00000488120.1_Missense_Mutation_p.E10K|DCX_ENST00000371993.2_Missense_Mutation_p.E10K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	91					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTATCTCTTTCGTCAAAGTGT	0.507000													10	111					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224763764	224763764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224763764G>A	ENST00000233055.4	-	6	611	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	170						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACCAACGAAAGCATACTGAGT	0.433000													8	55					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108120689	108120689	+	Silent	SNP	G	G	A	rs146574269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120689G>A	ENST00000374720.3	+	7	982	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC44A1_ENST00000374723.1_Silent_p.T245T|SLC44A1_ENST00000374724.1_Silent_p.T245T|SLC44A1_ENST00000343170.7_Silent_p.T37T	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	245						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATCTTAACGATTCTGGTCA	0.323000													40	67					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110366334	110366334	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110366334G>A	ENST00000519681.1	+	5	445	c.3G>A	c.(1-3)atG>atA	p.M1I	PAK3_ENST00000372010.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000417227.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000360648.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000372007.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000518291.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000425146.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000446737.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000262836.4_Start_Codon_SNP_p.M1I			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	1					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACTGAAAATGTCTGACGGTC	0.428000										TSP Lung(19;0.15)			13	166					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049946	239049946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239049946C>T	ENST00000409223.1	+	2	658	c.551C>T	c.(550-552)gCc>gTc	p.A184V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A166V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	184	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACTTGTCTGGCCGGCGACCTG	0.687000													4	9					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84779110	84779110	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84779110C>A	ENST00000219473.7	+	4	1136	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	USP10_ENST00000570191.1_Silent_p.S345S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	341					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCCCAAGTCCTGGGCCAGCC	0.572000													3	12					0.004672	0.0049138	1	1	0
SPAG5	10615	broad.mit.edu	37	17	26919664	26919664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919664G>T	ENST00000321765.5	-	3	930	c.598C>A	c.(598-600)Cat>Aat	p.H200N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	200					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTAAGAGATGGGACGGAGAT	0.498000													26	35					1.38267e-23	1.83153e-23	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100276145	100276145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100276145C>T	ENST00000338687.7	-	9	1681	c.876G>A	c.(874-876)ggG>ggA	p.G292G	TRMT2B_ENST00000372939.1_Silent_p.G292G|TRMT2B_ENST00000372936.3_Silent_p.G337G|TRMT2B_ENST00000545398.1_Silent_p.G337G|TRMT2B_ENST00000372931.5_Silent_p.G337G|TRMT2B_ENST00000372935.1_Silent_p.G337G			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	337							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGTCAGCTCCCCCACAGTCC	0.512000													31	34					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	986164	986164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:986164C>T	ENST00000379370.2	+	30	5250	c.5200C>T	c.(5200-5202)Cgc>Tgc	p.R1734C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1734	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.R1734C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGAAACGGCCGCAAGGGTGC	0.706000													4	6					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961663	165961663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:165961663A>G	ENST00000512596.1	+	3	655	c.439A>G	c.(439-441)Agc>Ggc	p.S147G	TRIM60_ENST00000341062.5_Missense_Mutation_p.S147G|TRIM60_ENST00000508504.1_Missense_Mutation_p.S147G	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	147						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGAAGGTAGCCTTGAGCC	0.393000													4	57					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184288	13184288	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184288G>A	ENST00000358552.3	+	3	672	c.672G>A	c.(670-672)acG>acA	p.T224T	NFIX_ENST00000397661.2_Silent_p.T225T|NFIX_ENST00000587260.1_Silent_p.T224T|NFIX_ENST00000360105.4_Silent_p.T228T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Silent_p.T178T|NFIX_ENST00000592199.1_Silent_p.T225T|NFIX_ENST00000587760.1_Silent_p.T217T|NFIX_ENST00000585575.1_Silent_p.T217T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	225					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGAATGTGACGGAGCTGGTGA	0.532000													21	33					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901696	37901696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37901696C>A	ENST00000309156.4	+	11	1371	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	GRB7_ENST00000309185.3_Missense_Mutation_p.L372M|GRB7_ENST00000445327.2_Missense_Mutation_p.L395M|GRB7_ENST00000394211.3_Missense_Mutation_p.L372M|GRB7_ENST00000394204.1_Missense_Mutation_p.L372M|GRB7_ENST00000394209.2_Missense_Mutation_p.L372M	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	372					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATAATACCCTGGTGGCCAT	0.617000													6	54					3.59834e-05	4.01776e-05	1	1	0
AGXT	189	broad.mit.edu	37	2	241817440	241817440	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241817440C>T	ENST00000307503.3	+	10	1331	c.942_splice	c.e10-1	p.A315_splice		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	315					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTCCTGCAGGCGCTCCGGCTT	0.602000													14	21					0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33557432	33557432	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33557432T>C	ENST00000592875.1	+	4	1006	c.360T>C	c.(358-360)ttT>ttC	p.F120F	C18orf21_ENST00000333234.5_Silent_p.F32F	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	120										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GTAGAAGCTTTGTGTCAACAT	0.393000													4	45					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151424261G>T	ENST00000370314.4	-	5	778	c.540C>A	c.(538-540)ctC>ctA	p.L180L	GABRA3_ENST00000370311.1_Silent_p.L180L|GABRA3_ENST00000535043.1_Silent_p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	180				L -> P (in Ref. 3; AAH28629).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L180L(1)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTGTATAGAGGAGGGTTC	0.478000													9	107					2.80697e-09	3.39963e-09	1	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46099286	46099286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099286T>C	ENST00000355105.3	-	10	2279	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S307G|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CGAGAGGAGCTGATCTCAATT	0.517000													12	18					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105785379	105785379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105785379C>A	ENST00000369755.3	+	19	4154	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	SLK_ENST00000335753.4_Missense_Mutation_p.F1172L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1203					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGTATTCTTTAAAATGA	0.388000													5	60					0.184627	0.186383	1	1	0
ATL3	25923	broad.mit.edu	37	11	63398565	63398565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63398565A>G	ENST00000398868.3	-	12	1762	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	ATL3_ENST00000332645.4_Missense_Mutation_p.Y523H|ATL3_ENST00000538786.1_Missense_Mutation_p.Y478H	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	496					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGCTCACGATATTGACCAGAA	0.483000													4	38					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162470727	162470727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162470727G>A	ENST00000489294.1	+	3	744	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196R|UHMK1_ENST00000545294.1_Missense_Mutation_p.G122R	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423000													15	29					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410477	20410477	+	Missense_Mutation	SNP	G	G	A	rs143235162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20410477G>A	ENST00000302451.4	-	2	394	c.146C>T	c.(145-147)aCg>aTg	p.T49M		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	49					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCAGCGGGCGTTAGCACTAG	0.572000													48	66					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022198	59022198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59022198G>A	ENST00000263093.2	-	2	897	c.788C>T	c.(787-789)gCt>gTt	p.A263V	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A179V	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	263					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCAGAGCCCCCACCCC	0.637000													5	11					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49846431	49846431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49846431T>G	ENST00000376088.3	+	9	1501	c.860T>G	c.(859-861)gTg>gGg	p.V287G	CLCN5_ENST00000376108.3_Missense_Mutation_p.V217G|CLCN5_ENST00000376091.3_Missense_Mutation_p.V287G|CLCN5_ENST00000307367.2_Missense_Mutation_p.V217G	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	217					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTAGTGCACGTGGCTTGCTGC	0.507000													29	39					0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77918260	77918260	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77918260G>A	ENST00000353265.3	-	3	722	c.525C>T	c.(523-525)cgC>cgT	p.R175R	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	175	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TGGCGCCATCGCGGATGTAGA	0.697000													5	8					0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446582	140446582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140446582C>T	ENST00000371443.5	+	2	837	c.49C>T	c.(49-51)Cga>Tga	p.R17*		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	17					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GGGTGCGGACCGAATGAGCAA	0.751000													6	19					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212497	113212497	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113212497T>G	ENST00000401783.2	-	24	4281	c.3945A>C	c.(3943-3945)ccA>ccC	p.P1315P	SVEP1_ENST00000302728.8_Silent_p.P1315P|SVEP1_ENST00000374469.1_Silent_p.P1292P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1315	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTTAAGCATGGGTTTGACT	0.468000													40	54					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483913	108483913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108483913G>A	ENST00000374688.1	+	3	913	c.203G>A	c.(202-204)aGa>aAa	p.R68K	TMEM38B_ENST00000374692.3_Missense_Mutation_p.R122K			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	122						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAAGTGACCAGAACTTGGAAA	0.418000													20	43					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137065	40137065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137065G>A	ENST00000278198.2	-	2	2741	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R260W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	260					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGCATTCCGTTCAATCACT	0.448000													47	62					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795536	69795536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69795536C>T	ENST00000251566.4	-	6	1609	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGATCTATTCCCTCTTTTCT	0.333000													20	46					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89425652	89425652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89425652C>T	ENST00000264350.3	+	22	2926	c.2773C>T	c.(2773-2775)Cgt>Tgt	p.R925C	HERC5_ENST00000508159.1_Missense_Mutation_p.R563C	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	925	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTAGAATGCACGTTATGAACC	0.323000													16	28					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48697457G>A	ENST00000544264.1	-	1	2891	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R871W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507000													24	34					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412312	68412312	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68412312G>T	ENST00000396591.3	+	10	1774	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	388					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATAACTTCATGGGTGATGCTT	0.388000													10	72					4.68919e-08	5.58064e-08	1	1	0
PARD3	56288	broad.mit.edu	37	10	34688290	34688290	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34688290G>A	ENST00000374789.3	-	7	1183	c.858C>T	c.(856-858)atC>atT	p.I286I	PARD3_ENST00000374794.3_Silent_p.I242I|PARD3_ENST00000340077.5_Silent_p.I286I|PARD3_ENST00000350537.4_Silent_p.I286I|PARD3_ENST00000346874.4_Silent_p.I286I|PARD3_ENST00000544292.1_Silent_p.I16I|PARD3_ENST00000374776.1_Silent_p.I286I|PARD3_ENST00000545693.1_Silent_p.I286I|PARD3_ENST00000374790.3_Silent_p.I242I|PARD3_ENST00000374773.1_Silent_p.I286I|PARD3_ENST00000545260.1_Silent_p.I242I|PARD3_ENST00000374788.3_Silent_p.I286I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	286	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCACTACGTGGATTCCCAGAG	0.433000													8	92					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597258	55597258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55597258G>T	ENST00000201647.6	+	15	1491	c.1435G>T	c.(1435-1437)Gca>Tca	p.A479S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.A352S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.A165S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.A415S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.A493S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	479	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCAGAGACAGCAGGAAAATG	0.577000													12	22					4.3838e-07	5.12524e-07	1	1	0
KRIT1	889	broad.mit.edu	37	7	91844019	91844019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91844019C>A	ENST00000394507.1	-	16	2419	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	KRIT1_ENST00000340022.2_Missense_Mutation_p.A546S|KRIT1_ENST00000412043.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394503.2_Missense_Mutation_p.A498S|KRIT1_ENST00000394505.2_Missense_Mutation_p.A546S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	546	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCAGGAGCTGTATAAAAG	0.328000													25	59					2.98393e-07	3.50693e-07	1	1	0
MACF1	23499	broad.mit.edu	37	1	39835840	39835840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39835840G>A	ENST00000564288.1	+	51	13854	c.13077G>A	c.(13075-13077)aaG>aaA	p.K4359K	MACF1_ENST00000545844.1_Silent_p.K2297K|MACF1_ENST00000289893.4_Silent_p.K2799K|MACF1_ENST00000567887.1_Silent_p.K4396K|MACF1_ENST00000372915.3_Silent_p.K4364K|MACF1_ENST00000317713.7_Silent_p.K2297K|MACF1_ENST00000361689.2_Silent_p.K2297K|MACF1_ENST00000539005.1_Silent_p.K2297K|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4364					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTAGAAAAGCAGATTGAAC	0.453000													3	24					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448000													14	163					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86378642	86378642	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86378642A>G	ENST00000410111.3	-	12	1566	c.1177_splice	c.e12-1	p.A393_splice	IMMT_ENST00000254636.5_Splice_Site_p.A294_splice|IMMT_ENST00000409051.2_Splice_Site_p.A346_splice|IMMT_ENST00000449247.2_Splice_Site_p.A382_splice|IMMT_ENST00000442664.2_Splice_Site_p.A392_splice	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	393				SVSDLA -> T (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTTGTCAGCTAAGCAAA	0.388000													4	25					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810031	33810031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33810031G>A	ENST00000238823.8	-	8	1509	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	FAM98A_ENST00000441530.2_Missense_Mutation_p.R262C|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	458	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ccaccaccacgatcaccaTGG	0.582000													27	48					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809856	91809856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91809856G>T	ENST00000394232.1	+	7	1523	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	SV2B_ENST00000545111.2_Missense_Mutation_p.E200D|SV2B_ENST00000330276.4_Missense_Mutation_p.E351D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	351					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATTCATTGAGATCCAAAGTT	0.408000													7	63					7.48243e-07	8.70085e-07	1	1	0
MRPS2	51116	broad.mit.edu	37	9	138395863	138395863	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395863C>G	ENST00000371785.1	+	5	984	c.775C>G	c.(775-777)Cgg>Ggg	p.R259G	MRPS2_ENST00000241600.5_Missense_Mutation_p.R259G|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	259					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GGCCATCACCCGGGCCAAGGA	0.652000													3	40					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97817680	97817680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97817680G>A	ENST00000265992.5	+	6	1168	c.801G>A	c.(799-801)caG>caA	p.Q267Q	ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000465148.2_Silent_p.Q278Q|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Silent_p.Q267Q|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Silent_p.Q266Q	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	267						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCCTCCCAGCCATCACGGC	0.498000													29	47					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711196	134711196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711196C>T	ENST00000370752.4	+	14	2186	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	618										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACAGTCCTATGTCATC	0.468000													77	121					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235702	33235702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33235702C>T	ENST00000401073.2	+	6	992	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R260W|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R249W	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	249										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTTGTTGGCCGGTCCACGGG	0.687000													23	44					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79983272	79983272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79983272G>A	ENST00000306688.3	+	5	892	c.550G>A	c.(550-552)Gtt>Att	p.V184I	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	184						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAATAACGTTGGCCTCCT	0.627000													21	49					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595236	12595236	+	Silent	SNP	C	C	T	rs141516444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12595236C>T	ENST00000378847.3	+	2	442	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CAMK1D_ENST00000378845.1_Silent_p.S35S|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	35	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S35S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGGCCTTTTCCGAAGTGGTTT	0.468000													38	68					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161275672C>A	ENST00000533357.1	-	6	807	c.741G>T	c.(739-741)aaG>aaT	p.K247N	MPZ_ENST00000360451.6_Missense_Mutation_p.K257N|MPZ_ENST00000336559.4_Missense_Mutation_p.R247I|MPZ_ENST00000491222.2_Missense_Mutation_p.K51N|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592000													5	39					0.0293803	0.0301098	1	1	0
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98999890C>T	ENST00000393504.1	+	5	852	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.N145N|CNGA3_ENST00000409937.1_Silent_p.N149N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	145					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582000													7	22					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061781	59061781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061781G>A	ENST00000253024.5	+	17	2658	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R708H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	790	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCCTGCAGCGCTTCTTCGAG	0.602000													22	38					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64920503	64920503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920503C>T	ENST00000555709.1	+	25	2876	c.2489C>T	c.(2488-2490)gCa>gTa	p.A830V	ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A886V|MTHFD1_ENST00000216605.7_Missense_Mutation_p.A886V|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	830	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGGATCATTGCACAGAAGATC	0.438000													16	28					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195022752	195022752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022752C>T	ENST00000326793.6	-	14	1498	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	423	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTGGCCCACCGTGGATCTGC	0.527000													6	141					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495246	71495246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71495246G>T	ENST00000296755.7	+	5	6362	c.6064G>T	c.(6064-6066)Ggt>Tgt	p.G2022C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2022						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTGAAGGTTATTCCTA	0.463000													10	139					4.68919e-08	5.58064e-08	1	1	0
FAM110B	90362	broad.mit.edu	37	8	59059400	59059400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59059400G>A	ENST00000361488.3	+	5	1491	c.611G>A	c.(610-612)cGc>cAc	p.R204H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	204						microtubule organizing center|mitochondrion|nucleus		p.R204H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCGGACATCCGCAAGGTGACC	0.657000													22	31					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114289834	114289834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114289834G>A	ENST00000309235.5	+	2	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ZNF483_ENST00000355824.3_Silent_p.Q53Q|ZNF483_ENST00000358151.4_Silent_p.Q53Q|ZNF483_ENST00000374374.3_Silent_p.Q53Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTTCAGACAGAGGTTTAGGT	0.473000													27	48					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793158	29793158	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29793158C>T	ENST00000269202.6	+	11	1262	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MEP1B_ENST00000581447.1_Silent_p.R405R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	405	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGAAGGACGCAAAGGCTCTG	0.423000													20	35					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390902	78390902	+	Missense_Mutation	SNP	G	G	A	rs140287525	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78390902G>A	ENST00000238561.5	+	8	1060	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	ADCK1_ENST00000341211.5_Missense_Mutation_p.G253S|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	328	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GAAGCACCCCGGCACGGGAAA	0.582000													22	35					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289482	107289482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107289482C>A	ENST00000277216.3	-	1	8	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTGGTTTATCTTGTCCATGT	0.368000													4	85					0.150653	0.152692	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027307	37027307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37027307C>A	ENST00000358047.3	+	1	876	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	275				P -> S (in Ref. 2; BAC86381).						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGCCTCCTGGGACTGGA	0.612000													19	39					2.4624e-09	2.98951e-09	1	1	0
DBR1	51163	broad.mit.edu	37	3	137881272	137881272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137881272G>T	ENST00000260803.4	-	8	1247	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	DBR1_ENST00000505015.2_Missense_Mutation_p.P131H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	365						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGTTGTCTGAGGATTGATCCT	0.403000													28	47					2.46105e-21	3.23713e-21	1	1	0
DDX23	9416	broad.mit.edu	37	12	49224261	49224261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49224261G>T	ENST00000308025.3	-	17	2533	c.2454C>A	c.(2452-2454)atC>atA	p.I818I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	818						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCAGGCAAAGATGGTCTCTT	0.567000													6	44					5.9392e-07	6.91975e-07	1	1	0
GJA10	84694	broad.mit.edu	37	6	90605392	90605392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90605392T>C	ENST00000369352.1	+	1	1205	c.1205T>C	c.(1204-1206)cTt>cCt	p.L402P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	402					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCACAGATCTTCATAGTCAC	0.547000													6	40					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10943688	10943688	+	Missense_Mutation	SNP	G	G	A	rs139213045	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10943688G>A	ENST00000214869.2	-	4	765	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TMED1_ENST00000591695.1_Silent_p.S161S|TMED1_ENST00000588289.1_Missense_Mutation_p.R78C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	223					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCACCGGGCGCTTGTCCTGG	0.612000													13	28					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502780	64502780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64502780C>A	ENST00000355086.3	+	16	2406	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L605I|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L565I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	628	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCGGTCCTTATAGTGAT	0.463000													6	77					1	1	1	1	0
GPR133	283383	broad.mit.edu	37	12	131471764	131471764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131471764C>T	ENST00000261654.5	+	6	1174	c.615C>T	c.(613-615)aaC>aaT	p.N205N	GPR133_ENST00000535015.1_Silent_p.N237N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	205					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGAGTCCAACGTCAACCTCG	0.532000													6	112					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33893742	33893742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33893742C>T	ENST00000389232.4	+	17	1981	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	RYR3_ENST00000415757.3_Silent_p.N637N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507000													8	12					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322423	43322423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43322423G>A	ENST00000331495.3	+	21	3012	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	FMNL1_ENST00000328118.3_Silent_p.P892P|FMNL1_ENST00000587489.1_Silent_p.P470P	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	892	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAAGTACCCGCAACTCACAG	0.587000													25	24					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38042993	38042993	+	Missense_Mutation	SNP	G	G	A	rs35351971	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38042993G>A	ENST00000283713.6	+	12	1495	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	VILL_ENST00000465644.1_Missense_Mutation_p.R128H|VILL_ENST00000383759.2_Missense_Mutation_p.R410H			O15195	VILL_HUMAN	villin-like	410					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCCAAGCGTCATGGACAG	0.587000													19	24					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21083594	21083594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21083594G>T	ENST00000269221.3	+	1	122	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E4D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	4										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGGCGAGGAGGACTACTATC	0.716000													5	25					0.000274275	0.000298791	1	1	0
SZT2	23334	broad.mit.edu	37	1	43888947	43888947	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43888947C>A	ENST00000372442.1	+	0	151				SZT2_ENST00000562955.1_Missense_Mutation_p.L739I			Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGGCCCTGCCTTGTGGTCCT	0.617000													5	33					3.59834e-05	4.01776e-05	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71075085	71075085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71075085C>T	ENST00000452400.2	-	9	1018	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	279					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGACGTGATCTTGCCTATTA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								63	114					0	0	1	0	0
NHLH2	4808	broad.mit.edu	37	1	116380610	116380610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116380610A>T	ENST00000369506.1	-	1	5928	c.384T>A	c.(382-384)taT>taA	p.Y128*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.Y128*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	128	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGTTGAGATAGGAGATGT	0.682000													4	14					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598189	41598189	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41598189A>G	ENST00000262415.3	+	20	3080	c.3008A>G	c.(3007-3009)gAg>gGg	p.E1003G	DHX8_ENST00000540306.1_Missense_Mutation_p.E1003G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1003						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTGCAGTGAGGAAATGCTG	0.478000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	34					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36224743	36224743	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36224743C>A	ENST00000420124.1	+	30	7129	c.7129C>A	c.(7129-7131)Ctg>Atg	p.L2377M	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.L2377M																							CCCAGACCTGCTGCTTGAGTC	0.622000													8	24					0.00307968	0.00325696	1	1	0
PPL	5493	broad.mit.edu	37	16	4933512	4933512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4933512G>T	ENST00000345988.2	-	22	5233	c.5144C>A	c.(5143-5145)tCt>tAt	p.S1715Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1713Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1715					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTCTTGCCAGACTTCCTGTC	0.542000													23	28					3.6726e-16	4.7309e-16	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73022552	73022552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022552G>A	ENST00000263674.3	+	1	3219	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCAGACACGTTCGCCATGC	0.622000													11	35					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76447622	76447622	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76447622T>C	ENST00000389840.5	-	66	10745	c.10621A>G	c.(10621-10623)Agg>Ggg	p.R3541G	DNAH17_ENST00000585328.1_Missense_Mutation_p.R3550G|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCATCCCTGGTGACCAGG	0.562000													13	124					0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386859	187386859	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187386859G>T	ENST00000287641.3	-	2	452	c.345C>A	c.(343-345)tcC>tcA	p.S115S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	115					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	AAAGCTAACAGGATGTGAAAG	0.507000													8	150					5.18039e-06	5.91835e-06	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1083924	1083924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1083924G>T	ENST00000264930.5	-	8	1108	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	355					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGGATGAAGTACTCGTCAC	0.652000													18	28					6.94344e-10	8.49476e-10	1	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65349686	65349686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65349686G>A	ENST00000309295.4	+	9	1808	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	515										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGGGTGGAGCACCTGGTAT	0.652000													13	10					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122144	30122144	+	Missense_Mutation	SNP	G	G	A	rs146058085	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30122144G>A	ENST00000449742.2	-	7	1123	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	TRIM10_ENST00000376704.3_Missense_Mutation_p.R350W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	350	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGGTGGCCCGGTCAAAACGT	0.607000													8	23					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135983469	135983469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135983469G>T	ENST00000393160.3	-	6	1291	c.938C>A	c.(937-939)cCt>cAt	p.P313H	RALGDS_ENST00000393157.3_Missense_Mutation_p.P367H|RALGDS_ENST00000372062.3_Missense_Mutation_p.P339H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P356H|RALGDS_ENST00000372050.3_Missense_Mutation_p.P368H|RALGDS_ENST00000542690.1_Missense_Mutation_p.P439H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	368					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGCAACCACAGGTGAAGGCCA	0.562000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								25	38					3.6726e-16	4.7309e-16	1	1	0
STAT1	6772	broad.mit.edu	37	2	191848459	191848459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191848459G>T	ENST00000361099.3	-	17	1742	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	STAT1_ENST00000392323.2_Missense_Mutation_p.S454Y|STAT1_ENST00000392322.3_Missense_Mutation_p.S452Y|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.S452Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	452					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACGGGCAGAGAGGTCGTCTA	0.493000													6	62					5.9392e-07	6.91975e-07	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935223	30935223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935223G>A	ENST00000355537.3	+	2	901	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGACGTGGCCCACCCGGT	0.736000													6	6					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45269650	45269650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45269650C>A	ENST00000437801.2	-	2	524	c.153G>T	c.(151-153)atG>atT	p.M51I	NELL2_ENST00000429094.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Start_Codon_SNP_p.M1I|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000333837.4_Missense_Mutation_p.M24I	NM_001145107.1	NP_001138579.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	1	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCCGAGACTCCATGGTGCGGA	0.502000													32	56					1.08312e-15	1.39118e-15	1	1	0
AE000661.37	0	broad.mit.edu	37	14	22919132	22919132	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22919132G>A	ENST00000514473.2	-	0	225																											GTGGAACCAAGTAAGTAACTC	0.438000													18	31					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33135326	33135326	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33135326A>G	ENST00000375030.2	+	18	1851	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	C10orf68_ENST00000375028.3_Silent_p.K456K|C10orf68_ENST00000375025.4_Silent_p.K516K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	452										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTTAAAAGATGCTATTG	0.294000													21	26					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45807687	45807687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45807687G>A	ENST00000372090.5	+	5	983	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TOE1_ENST00000539779.1_Missense_Mutation_p.E54K|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	134						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GTATGTCATAGAACCAAAGTC	0.468000													19	42					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039944	80039944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80039944C>T	ENST00000306749.2	-	36	6322	c.6104G>A	c.(6103-6105)gGc>gAc	p.G2035D	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2035	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATTGGCAAAGCCGTAGTTGCT	0.652000													4	59					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26383894	26383894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383894G>A	ENST00000242729.2	+	3	794	c.617G>A	c.(616-618)gGc>gAc	p.G206D	SSPN_ENST00000422622.2_Missense_Mutation_p.G103D|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.G103D|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	206					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTGGTCTGCGGCCTTGTGTGC	0.507000													29	52					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113714766	113714766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113714766C>T	ENST00000550785.1	+	12	1370	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	TPCN1_ENST00000541517.1_Missense_Mutation_p.R401C|TPCN1_ENST00000392569.4_Missense_Mutation_p.R261C|TPCN1_ENST00000335509.6_Missense_Mutation_p.R329C	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	329						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CATTGAGAAACGCAAGTTCAA	0.557000													82	145					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652947	3652947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652947C>A	ENST00000356518.2	-	14	1672	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.Q477H|ADAM33_ENST00000350009.2_Missense_Mutation_p.Q477H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	477	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CACCCATGGCCTGGCGGCACA	0.662000													5	72					0.0215528	0.0221649	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6662069	6662069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6662069C>T	ENST00000299441.3	-	2	1187	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTAGCGGCTCTGATT	0.607000													39	55					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4125771	4125771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4125771T>C	ENST00000324333.10	-	2	287	c.94A>G	c.(94-96)Aat>Gat	p.N32D	GLIS3_ENST00000381971.3_Missense_Mutation_p.N187D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	32					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGCTGCATTCATTGCCCTC	0.463000													35	70					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634112	121634112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121634112G>A	ENST00000489711.1	+	6	955	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SLC15A2_ENST00000295605.2_Silent_p.L158L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	189					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTACCTGTCCATCAATG	0.478000													7	72					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127413948	127413948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127413948C>T	ENST00000434178.2	-	7	1552	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398101.3_Missense_Mutation_p.R193Q|MGLL_ENST00000265052.5_Missense_Mutation_p.R229Q|MGLL_ENST00000398104.1_Missense_Mutation_p.R219Q|MGLL_ENST00000453507.2_Missense_Mutation_p.R199Q			Q99685	MGLL_HUMAN	monoglyceride lipase	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCGCTCCACCCGTGAGACGGC	0.607000													7	51					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753424	7753424	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753424T>C	ENST00000254846.5	+	13	3991	c.3602T>C	c.(3601-3603)cTg>cCg	p.L1201P	KDM6B_ENST00000448097.2_Missense_Mutation_p.L1201P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1201					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCTGTCCTGCTGCAGTTC	0.622000													12	18					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134681061	134681061	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134681061G>A	ENST00000370752.4	+	6	947		c.e6-1		DDX26B_ENST00000493637.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGATAGGTCGCTCCTA	0.274000													70	116					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488000													19	49					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802461	45802461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45802461T>C	ENST00000357450.4	-	4	494	c.495A>G	c.(493-495)atA>atG	p.I165M	SMC1B_ENST00000404354.3_Missense_Mutation_p.I165M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	165					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATATTCTCCTATAAGCTCTC	0.358000													24	45					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956626	42956626	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956626A>G	ENST00000541208.1	+	5	1430	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	ZNF662_ENST00000440367.2_Missense_Mutation_p.H354R|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.H380R|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAGAGGGTCCACACTGGGGAC	0.488000													27	24					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91263201	91263201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:91263201G>T	ENST00000369329.3	-	7	873	c.712C>A	c.(712-714)Cga>Aga	p.R238R	MAP3K7_ENST00000369325.3_Silent_p.R238R|MAP3K7_ENST00000369327.3_Silent_p.R238R|MAP3K7_ENST00000369332.3_Silent_p.R238R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	238	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACATGATTCGGAAAGCTGGG	0.403000													5	107					4.096e-09	4.95403e-09	1	1	0
ISG15	9636	broad.mit.edu	37	1	949506	949506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:949506C>T	ENST00000379389.4	+	2	297	c.146C>T	c.(145-147)cCg>cTg	p.P49L		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	49	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGTCCACCCGAGCGGTGTG	0.667000													4	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403465	179403465	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403465G>A	ENST00000589042.1	-	354	99315	c.99091C>T	c.(99091-99093)Ctt>Ttt	p.L33031F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23966F|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30463F|TTN_ENST00000359218.5_Missense_Mutation_p.L24091F|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24158F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31390F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31390							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATCCAAGAATTTCTTTA	0.408000													54	114					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898155	12898155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12898155G>A	ENST00000338034.4	-	21	2194	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A633V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A612V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	652					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGCACCAGCGCACAGCCAAA	0.622000													13	58					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7625343	7625343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7625343G>A	ENST00000340080.4	+	7	2146	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MIOS_ENST00000405785.1_Missense_Mutation_p.M575I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	575										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGAGAAATGTGTAGCACAC	0.408000													128	99					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069213	153069213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069213G>A	ENST00000164640.4	-	8	2096	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	PDZD4_ENST00000544474.1_Silent_p.Y526Y|PDZD4_ENST00000393758.2_Silent_p.Y560Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	635						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGGCCACGTAGCGGGTTC	0.706000													21	44					0	0	1	0	0
RND2	8153	broad.mit.edu	37	17	41180611	41180611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41180611C>T	ENST00000544533.1	+	5	708	c.601C>T	c.(601-603)Cga>Tga	p.R201*	RND2_ENST00000587250.2_Nonsense_Mutation_p.R200*	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	200					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAATGCAGCGATCCGCTCA	0.622000													4	16					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980826	44980826	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44980826C>A	ENST00000221327.4	-	5	2153	c.1872G>T	c.(1870-1872)caG>caT	p.Q624H	ZNF180_ENST00000391956.4_Missense_Mutation_p.Q599H|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q597H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAGTTCTCTGATGTTGAG	0.403000													12	104					5.50884e-06	6.28354e-06	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143044465	143044465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143044465T>C	ENST00000513000.1	-	21	2430	c.1997A>G	c.(1996-1998)gAa>gGa	p.E666G	INPP4B_ENST00000308502.4_Missense_Mutation_p.E666G|INPP4B_ENST00000508116.1_Missense_Mutation_p.E666G|INPP4B_ENST00000262992.4_Missense_Mutation_p.E666G|INPP4B_ENST00000509777.1_Missense_Mutation_p.E666G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	666					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAGCAGTCCTTCATATTGTAC	0.363000													5	79					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719350C>T	ENST00000299162.5	-	9	1260	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657000													3	11					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109870142C>T	ENST00000256637.6	-	12	1511	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SORT1_ENST00000538502.1_Missense_Mutation_p.V348I	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	485					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498000													17	49					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11750821	11750821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11750821C>T	ENST00000381486.2	+	18	2974	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	GREB1_ENST00000234142.5_Missense_Mutation_p.R892C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	892						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGGTTCCCCCGCCTGCACAG	0.627000													18	18					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53241017	53241017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53241017G>A	ENST00000452825.3	-	7	1525	c.993C>T	c.(991-993)ggC>ggT	p.G331G	KDM5C_ENST00000404049.3_Silent_p.G397G|KDM5C_ENST00000375379.3_Silent_p.G398G|KDM5C_ENST00000375383.3_Silent_p.G357G|KDM5C_ENST00000375401.3_Silent_p.G398G	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGGCCATCTCGCCAAAGCTCT	0.522000			"""N, F, S"""		clear cell renal carcinoma								11	10					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130068297	130068297	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130068297C>T	ENST00000278742.5	+	13	1972	c.1554C>T	c.(1552-1554)agC>agT	p.S518S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	518	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAACAGCGACGAGCAGG	0.662000													12	48					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5469740	5469740	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5469740A>G	ENST00000282908.5	+	11	1471	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	STK32B_ENST00000512636.1_Missense_Mutation_p.H273R|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.H303R	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	350							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAATGGACACCTGCAGCAC	0.517000													5	98					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931761	73931761	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931761C>A	ENST00000302351.4	-	2	1680	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	ENC1_ENST00000537006.1_Missense_Mutation_p.D184Y|ENC1_ENST00000510316.1_Missense_Mutation_p.D111Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	184					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGAGGAAATCTTCATTCTTC	0.498000													55	85					6.09941e-20	7.99339e-20	1	1	0
BECN1	8678	broad.mit.edu	37	17	40970838	40970838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40970838G>A	ENST00000361523.4	-	5	450	c.318C>T	c.(316-318)ggC>ggT	p.G106G	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.G106G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	106					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCATGGTGCCGCCATCAGATG	0.597000													18	33					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409537	30409537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409537G>A	ENST00000320159.2	+	2	1342	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TGAAGCACCTGCGGGTGCACA	0.632000													4	47					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38938542	38938542	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38938542G>T	ENST00000301656.3	-	1	244	c.204C>A	c.(202-204)tcC>tcA	p.S68S		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	68	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCAGCACAGGAAGCACTTC	0.592000													6	49					0.00198382	0.00210581	1	1	0
ABHD4	63874	broad.mit.edu	37	14	23079789	23079789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23079789G>A	ENST00000428304.2	+	7	1034	c.964G>A	c.(964-966)Gtc>Atc	p.V322I		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	322					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCCCACCATGTCTATGCTGA	0.527000													14	37					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693538	94693538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693538T>C	ENST00000282020.4	+	16	3171	c.2913T>C	c.(2911-2913)aaT>aaC	p.N971N	GRID2_ENST00000510992.1_Silent_p.N876N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	971	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGGCACCTAATGGGGGCTTTT	0.498000													5	43					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105771585C>A	ENST00000369110.3	-	10	1464	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418000													7	122					0.248553	0.25002	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118464710	118464710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118464710C>T	ENST00000369209.3	-	3	310	c.206G>A	c.(205-207)gGc>gAc	p.G69D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	69							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTAGGCATAGCCACTGGATGT	0.567000													27	35					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153582630	153582630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582630C>T	ENST00000422373.1	-	33	5670	c.5422G>A	c.(5422-5424)Gcg>Acg	p.A1808T	FLNA_ENST00000344736.4_Missense_Mutation_p.A1776T|FLNA_ENST00000360319.4_Missense_Mutation_p.A1808T|FLNA_ENST00000369850.3_Missense_Mutation_p.A1816T|FLNA_ENST00000369856.3_Missense_Mutation_p.A7T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1816					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCTGCGCCACCTTGCCT	0.632000													18	25					0	0	1	0	0
MT1B	4490	broad.mit.edu	37	16	56686499	56686499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56686499C>T	ENST00000334346.2	+	2	100	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MT1B_ENST00000562399.1_Silent_p.C15C|RP11-249C24.11_ENST00000568608.1_RNA	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGTGCCTGCGCCGGCTCCT	0.552000													32	53					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102498707C>A	ENST00000360184.4	+	52	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3328	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577000													48	51					1.23713e-20	1.62518e-20	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23111440	23111440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111440G>A	ENST00000400191.3	+	3	700	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A222T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A228T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A228T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A228T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	228	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCTGCATCGCCAATGCGGA	0.632000													25	42					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71715338	71715338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71715338C>T	ENST00000393695.3	-	25	6387	c.6056G>A	c.(6055-6057)cGa>cAa	p.R2019Q	NUMA1_ENST00000351960.6_Missense_Mutation_p.R883Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.R2005Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2019					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCATGTCGGTCTCGGGG	0.557000			T	RARA	APL								30	51					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292223	33292223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292223G>A	ENST00000280979.4	+	13	5374	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1735					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAATGTCAGCATGATTGTT	0.473000													19	72					0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	99996153	99996153	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99996153C>A	ENST00000296412.8	-	7	923	c.873G>T	c.(871-873)gtG>gtT	p.V291V		NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	291					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CTACTCCAACCACGACGCTGA	0.522000													5	180					0.0215528	0.0221649	1	1	0
C1S	716	broad.mit.edu	37	12	7177630	7177630	+	Missense_Mutation	SNP	G	G	A	rs150394565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177630G>A	ENST00000406697.1	+	15	2370	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	C1S_ENST00000402681.3_Missense_Mutation_p.R414H|C1S_ENST00000328916.3_Missense_Mutation_p.R581H|C1S_ENST00000360817.5_Missense_Mutation_p.R581H			P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGTGCTGTTCGCCTCAAGGCG	0.522000													19	24					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231941835	231941835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231941835C>T	ENST00000308696.6	+	9	1192	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	PSMD1_ENST00000373635.4_Nonsense_Mutation_p.R344*|PSMD1_ENST00000409643.1_Nonsense_Mutation_p.R344*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTTCTTAATACGAAACAATAA	0.299000													5	40					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554130	223554130	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554130T>C	ENST00000446656.3	+	3	420	c.420T>C	c.(418-420)ctT>ctC	p.L140L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	140					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTCATATCTTCACGTGCTGC	0.443000													48	53					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74529527	74529527	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74529527C>A	ENST00000355780.5	-	6	692	c.474_splice	c.e6+1	p.Q158_splice	STAU2_ENST00000523558.1_Splice_Site_p.Q18_splice|STAU2_ENST00000522509.1_Splice_Site_p.Q158_splice|STAU2_ENST00000524300.1_Splice_Site_p.Q190_splice|STAU2_ENST00000521727.1_Splice_Site_p.Q170_splice|STAU2_ENST00000521210.1_Splice_Site_p.Q86_splice|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000517542.1_Splice_Site_p.Q152_splice|STAU2_ENST00000519961.1_Splice_Site_p.Q190_splice|STAU2_ENST00000522695.1_Splice_Site_p.Q158_splice	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	190	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCACCACACCTGAGGAGATC	0.413000													10	30					7.03913e-09	8.47891e-09	1	1	0
MEPE	56955	broad.mit.edu	37	4	88766237	88766237	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88766237T>C	ENST00000497649.2	+	6	523	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.S73P|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.S73P			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAAGATTTGTCCCTTTCTGA	0.308000													31	45					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680666	30680666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680666C>A	ENST00000376406.3	-	5	1700	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	MDC1_ENST00000376405.2_Missense_Mutation_p.K351N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	351	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CATGGAAGATCTTCCTCTTCT	0.542000								Other conserved DNA damage response genes					30	49					2.47511e-08	2.96196e-08	1	1	0
FAM217B	63939	broad.mit.edu	37	20	58520077	58520077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58520077G>A	ENST00000358293.3	+	5	1494	c.1079G>A	c.(1078-1080)gGt>gAt	p.G360D	FAM217B_ENST00000360816.3_Missense_Mutation_p.G360D	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	360																	GAGAGCTGTGGTCATGCCACT	0.408000													4	40					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739353	30739353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30739353C>T	ENST00000263056.1	+	5	1367	c.671C>T	c.(670-672)cCa>cTa	p.P224L	MAP3K8_ENST00000542547.1_Missense_Mutation_p.P224L|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P224L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	224	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCTGTGGACCAATGAGAGAA	0.448000													32	43					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63928207	63928207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63928207G>A	ENST00000443617.2	-	65	12454	c.12367C>T	c.(12367-12369)Cgg>Tgg	p.R4123W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4123					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGGGCCGCCGCTGCCTGTCG	0.502000													102	175					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74912051	74912051	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74912051C>A	ENST00000372979.4	-	7	1118	c.912_splice	c.e7+1	p.L304_splice	ECD_ENST00000430082.1_Splice_Site_p.L304_splice|ECD_ENST00000454759.1_Intron	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	304					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAACATTACCAATTTCATGC	0.428000													6	60					0.000157383	0.00017284	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51902154	51902154	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:51902154T>C	ENST00000268919.4	+	1	1916	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	587					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACCTTATGTACAGAGTGAG	0.418000													36	56					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094418	150094418	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150094418C>T	ENST00000329630.5	+	3	956	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCTGCAACGAGTGTG	0.741000													4	25					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421634	62421634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62421634C>T	ENST00000245663.4	-	2	627	c.477G>A	c.(475-477)tcG>tcA	p.S159S	ZBTB46_ENST00000395104.1_Silent_p.S159S|ZBTB46_ENST00000302995.2_Silent_p.S159S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCATCACGGCCGAGATGAGAG	0.642000													3	5					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2046693	2046693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2046693G>A	ENST00000262113.4	+	19	2461	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G199S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	774	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAGGTGGACGGCTTGACGGA	0.493000													6	9					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170511715	170511715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170511715C>A	ENST00000367763.3	+	3	598	c.578C>A	c.(577-579)gCt>gAt	p.A193D	GORAB_ENST00000367762.1_Missense_Mutation_p.A193D	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	193						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCTTTTGGCTAAAGCTATT	0.413000													17	184					3.41278e-10	4.19267e-10	1	1	0
NEU2	4759	broad.mit.edu	37	2	233899543	233899543	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233899543C>A	ENST00000233840.3	+	2	919	c.919C>A	c.(919-921)Ctg>Atg	p.L307M		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	307							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GAGGGCCGACCTGGGTGCCTA	0.682000													4	74					0.00909568	0.00947522	1	1	0
BRPF1	7862	broad.mit.edu	37	3	9776067	9776067	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776067C>A	ENST00000383829.2	+	2	647	c.243C>A	c.(241-243)gtC>gtA	p.V81V	BRPF1_ENST00000433861.2_Silent_p.V81V|BRPF1_ENST00000424362.1_Silent_p.V81V|BRPF1_ENST00000457855.1_Silent_p.V81V|BRPF1_ENST00000302054.3_Silent_p.V81V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	81	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCAGAGGTCTCACAGTCAC	0.602000													5	112					0.184627	0.186383	1	1	0
MORC2	22880	broad.mit.edu	37	22	31338136	31338136	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31338136T>G	ENST00000215862.4	-	8	1726	c.363A>C	c.(361-363)gaA>gaC	p.E121D	MORC2_ENST00000397641.2_Missense_Mutation_p.E183D|MORC2_ENST00000469915.1_5'UTR	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	183							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCATCACTTCCTCCTCAG	0.493000													36	66					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785152	90785152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90785152C>T	ENST00000558017.1	+	4	1432	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.H338Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	338					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCTGGCTGGGCACCTCCCTGT	0.587000													21	24					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028274	18028274	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18028274G>A	ENST00000262608.8	+	16	3234	c.3234G>A	c.(3232-3234)gcG>gcA	p.A1078A	CECR2_ENST00000400573.4_Silent_p.A1077A|CECR2_ENST00000400585.2_Silent_p.A935A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1119					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAACGCAGCGACACCGCCCA	0.607000													9	12					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38185090	38185090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38185090C>A	ENST00000394126.1	-	13	1891	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R	MED24_ENST00000501516.3_Silent_p.R485R|MED24_ENST00000356271.3_Silent_p.R453R|MED24_ENST00000394128.2_Silent_p.R466R|MED24_ENST00000394127.2_Silent_p.R453R			O75448	MED24_HUMAN	mediator complex subunit 24	466					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGAATTTCCGGGCGAAGG	0.642000													9	32					6.31663e-08	7.49729e-08	1	1	0
RPL5	6125	broad.mit.edu	37	1	93301914	93301914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93301914G>T	ENST00000370321.3	+	5	582	c.492G>T	c.(490-492)aaG>aaT	p.K164N		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	164					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGCCCTGAAGGGAGCTGTGG	0.483000													8	125					3.09899e-07	3.63227e-07	1	1	0
CHD6	0	broad.mit.edu	37	20	40162052	40162052	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40162052G>T	ENST00000373233.3	-	3	368	c.191C>A	c.(190-192)gCt>gAt	p.A64D	CHD6_ENST00000373222.3_Missense_Mutation_p.A99D|CHD6_ENST00000309279.7_Missense_Mutation_p.A64D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	64					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCTTCAGCAGTATACAG	0.463000													9	69					2.17888e-05	2.45068e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179477749	179477749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179477749A>G	ENST00000589042.1	-	265	49923	c.49699T>C	c.(49699-49701)Tca>Cca	p.S16567P	TTN_ENST00000460472.2_Missense_Mutation_p.S7502P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13999P|TTN_ENST00000359218.5_Missense_Mutation_p.S7627P|TTN_ENST00000342175.6_Missense_Mutation_p.S7694P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S14926P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14926	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTACTGATGTTTTGCCT	0.408000													24	29					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7225281	7225281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7225281G>A	ENST00000399464.2	-	17	2789	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T923I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T901I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCTAGAGTGACGTTCTT	0.572000													4	48					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176244	63176244	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63176244C>A	ENST00000279178.3	+	9	1743	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	498					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCCCTGCCCTGGATCATCT	0.502000													4	50					0.150653	0.152692	1	1	0
ABHD2	11057	broad.mit.edu	37	15	89719101	89719101	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719101C>A	ENST00000352732.5	+	6	1117	c.597C>A	c.(595-597)acC>acA	p.T199T	ABHD2_ENST00000355100.3_Silent_p.T199T|ABHD2_ENST00000565973.1_Silent_p.T199T	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	199						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCCCTGACCCAGCTGGTCG	0.532000													23	44					1.1804e-14	1.50872e-14	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10446900	10446900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446900C>A	ENST00000326756.3	-	3	1491	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATTGACAACCTTCACATCTA	0.448000													5	112					0.0215528	0.0221649	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615413G>A	ENST00000252595.7	+	12	2030	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_ENST00000598424.1_Missense_Mutation_p.A466T|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A645T|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622000													10	15					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9475264	9475264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9475264C>T	ENST00000281419.3	+	9	1145	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ASAP2_ENST00000315273.4_Missense_Mutation_p.L269F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	269					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGATACAGCTTCGAGATAT	0.403000													22	37					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518236	107518236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107518236A>G	ENST00000265840.7	+	7	728	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ELMOD1_ENST00000443271.2_Missense_Mutation_p.I155V|ELMOD1_ENST00000531234.1_Missense_Mutation_p.I149V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	155	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCGGATTTCTAAGCA	0.388000													5	47					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123024244	123024244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123024244G>A	ENST00000333479.7	+	5	565	c.388G>A	c.(388-390)Gat>Aat	p.D130N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D130N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	130					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAAAGCTAACGATGAAAATCG	0.274000													5	2					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783240	9783240	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9783240A>G	ENST00000536656.1	+	20	2764	c.2556A>G	c.(2554-2556)gtA>gtG	p.V852V	PIK3CD_ENST00000377346.4_Silent_p.V828V|PIK3CD_ENST00000361110.2_Silent_p.V852V			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	828	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAGGTGGTACTCCGTTCAG	0.592000													12	118					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591844	37591844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37591844C>T	ENST00000284437.6	+	3	345	c.167C>T	c.(166-168)cCt>cTt	p.P56L	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.P56L	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	56										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AAAAATGACCCTCAGAGGCAG	0.532000													61	106					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826570	50826570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50826570G>A	ENST00000376959.2	-	2	1803	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.S547L			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	547					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CATGGCCAGCGAATAGTACAT	0.627000													8	14					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50964891C>T	ENST00000357701.5	+	25	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	14					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83347637	83347637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83347637G>A	ENST00000295470.5	-	6	1346	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q391*|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.Q272*|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		GCATATCCCTGTCCATATCCA	0.333000													27	64					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418966	39418966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39418966G>T	ENST00000216099.7	+	2	564	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.G53W|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.G53W	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	53					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTGGGACACAGGGGTCTTTCG	0.498000													4	51					0.00909568	0.00947522	1	1	0
CBR4	84869	broad.mit.edu	37	4	169928023	169928023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169928023T>A	ENST00000306193.3	-	3	451	c.283A>T	c.(283-285)Aca>Tca	p.T95S	CBR4_ENST00000504480.1_Missense_Mutation_p.T95S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	95					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCAGTTTTTGTTCTTACTAAA	0.353000													76	111					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695568	247695568	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247695568G>A	ENST00000366487.3	-	2	607	c.246C>T	c.(244-246)ctC>ctT	p.L82L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTTAGCCAGGAGCTGTGGGA	0.537000													27	23					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46386777	46386777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46386777C>T	ENST00000306156.3	+	14	2280	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	651	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGCCTGGGCTGTGTGGCAT	0.547000													27	64					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75958909	75958909	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75958909G>A	ENST00000307630.3	-	2	951	c.729C>T	c.(727-729)ggC>ggT	p.G243G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	243					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	p.G243G(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGTTGCCTTCGCCGCCATCGT	0.597000													15	9					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968162	55968162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55968162G>A	ENST00000263923.4	-	15	2463	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	723	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCGGATAGTGAGGTTCCG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			31	61					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26424180	26424180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26424180G>A	ENST00000380649.3	-	13	1359	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	410					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCACTTTGTCATTCAATC	0.403000													6	53					0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524785	27524785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27524785G>T	ENST00000276943.2	+	1	474	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	151					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAAACCCTCAGAAGCCAGGGT	0.443000													25	36					1.85244e-09	2.25385e-09	1	1	0
MMP20	9313	broad.mit.edu	37	11	102477310	102477310	+	Silent	SNP	G	G	A	rs145296288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102477310G>A	ENST00000260228.2	-	6	921	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	303	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCACAGCGTCAAAGGATG	0.577000													14	28					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630708	67630708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67630708C>T	ENST00000272342.5	+	5	1024	c.894C>T	c.(892-894)agC>agT	p.S298S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	298						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTTAAGCCAAGAACTGC	0.378000													29	54					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15985894	15985894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15985894C>T	ENST00000505450.1	-	22	2950	c.2338G>A	c.(2338-2340)Gac>Aac	p.D780N	PROM1_ENST00000543373.1_Missense_Mutation_p.D780N|PROM1_ENST00000510224.1_Missense_Mutation_p.D789N|PROM1_ENST00000447510.2_Missense_Mutation_p.D789N|PROM1_ENST00000508167.1_Missense_Mutation_p.D780N|PROM1_ENST00000540805.1_Missense_Mutation_p.D789N|PROM1_ENST00000539194.1_Missense_Mutation_p.D789N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	789					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAGGGGTCGATAATGTAG	0.393000													6	8					0	0	1	0	0
JMJD7-PLA2G4B	0	broad.mit.edu	37	15	42133259	42133259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42133259G>T	ENST00000382448.4	+	10	1060	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351W	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		120	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCAGGGTGAGGGGCGCCTGGA	0.557000													11	99					0.000151284	0.000166931	1	1	0
ACSM3	6296	broad.mit.edu	37	16	20781367	20781367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20781367G>A	ENST00000289416.5	+	2	486	c.11G>A	c.(10-12)cGt>cAt	p.R4H	ACSM3_ENST00000440284.2_Missense_Mutation_p.R4H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	4					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTAGCTCGTGTCACCAGG	0.433000													21	29					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037201	3037201	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3037201A>C	ENST00000398052.4	+	13	1701	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	GRK4_ENST00000398051.4_Missense_Mutation_p.N421T|GRK4_ENST00000345167.6_Missense_Mutation_p.N421T|GRK4_ENST00000504933.1_Missense_Mutation_p.N453T|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	453	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGACATCAACTTCAGGAGG	0.592000													8	68					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525680	150525680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525680G>A	ENST00000271643.4	+	5	621	c.385G>A	c.(385-387)Gct>Act	p.A129T	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A129T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A129T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	129					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGAGGTCCCGCTTCCCACCT	0.662000													23	41					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37121769	37121769	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37121769T>C	ENST00000274258.7	-	48	9254	c.5667A>G	c.(5665-5667)aaA>aaG	p.K1889K	C5orf42_ENST00000425232.2_Silent_p.K2991K|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Silent_p.K2991K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2991										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGCTGGGTTTGTTAGGCA	0.463000													17	41					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60029004G>T	ENST00000586569.1	+	7	746	c.708G>T	c.(706-708)agG>agT	p.R236S	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423000													84	101					7.83748e-43	1.05787e-42	1	1	0
ABCD1	215	broad.mit.edu	37	X	152991417	152991417	+	Silent	SNP	G	G	A	rs147595334	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991417G>A	ENST00000218104.3	+	1	1095	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ABCD1_ENST00000370129.4_Silent_p.A47A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	232	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCGGGCGGCCCGCTCCC	0.682000													3	36					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140474606	140474606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140474606C>T	ENST00000194155.4	+	1	380	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTTGCAGTTCGATAG	0.512000													15	39					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271598	15271598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15271598C>T	ENST00000263388.2	-	33	6916	c.6841G>A	c.(6841-6843)Gcc>Acc	p.A2281T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2281					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGTGGTGGCCATGGCCCCA	0.672000													18	28					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41798220	41798220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41798220G>A	ENST00000392006.3	+	8	1243	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R268Q|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R357Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R243Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	357	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGCTTTCCGAATCCAGAAG	0.478000													7	165					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691180	18691180	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18691180A>G	ENST00000433979.1	+	24	3407	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	PIK3C2G_ENST00000266497.5_Silent_p.E1097E|PIK3C2G_ENST00000538779.1_Silent_p.E1138E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTGTGGAACTTTGCTGTC	0.383000													22	30					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30054474	30054474	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30054474A>G	ENST00000222803.5	-	4	688	c.513T>C	c.(511-513)caT>caC	p.H171H	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	171					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CCACCGCACCATGTTTTTCAA	0.338000													4	99					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96222898	96222898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96222898G>A	ENST00000453304.1	-	3	697	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	UNC5C_ENST00000504962.1_Missense_Mutation_p.L117F|UNC5C_ENST00000506749.1_Missense_Mutation_p.L117F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	117	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGGACAATGAGACCTGACAAG	0.433000													4	14					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119197	161119197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161119197G>T	ENST00000523217.1	+	8	1289	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	GABRA6_ENST00000274545.5_Missense_Mutation_p.E359D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	359					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGAAGCTGAGATTGTTTTGG	0.398000										TCGA Ovarian(5;0.080)			31	56					1.30897e-18	1.70928e-18	1	1	0
PNCK	139728	broad.mit.edu	37	X	152936198	152936198	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152936198C>A	ENST00000393831.2	-	10	1398		c.e10+1		PNCK_ENST00000340888.3_Splice_Site|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370145.4_Splice_Site	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACACTGACCTTCCAGTGT	0.607000													16	12					1.5739e-10	1.9432e-10	1	1	0
ZFP37	7539	broad.mit.edu	37	9	115806439	115806439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115806439G>A	ENST00000374227.3	-	4	486	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ZFP37_ENST00000555206.1_Silent_p.D154D|ZFP37_ENST00000553380.1_Silent_p.D168D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGAACCACAGTCACTGCCAT	0.348000													53	75					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110764194	110764194	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110764194G>T	ENST00000395494.2	+	6	1026		c.e6-1		ATP2A2_ENST00000539276.2_Splice_Site|ATP2A2_ENST00000308664.6_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AACCCGCTTAGGTGAATCTGT	0.463000													6	20					3.59834e-05	4.01776e-05	1	1	0
PIP4K2A	5305	broad.mit.edu	37	10	22830767	22830767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22830767C>T	ENST00000376573.4	-	8	1230	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PIP4K2A_ENST00000323883.7_Silent_p.P194P|PIP4K2A_ENST00000545335.1_Silent_p.P275P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	334	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGTCGATGTTCGGATCGAACT	0.537000													23	33					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235240	57235240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57235240C>T	ENST00000335099.3	+	2	507	c.190C>T	c.(190-192)Cga>Tga	p.R64*	RTN4RL2_ENST00000395120.2_Nonsense_Mutation_p.R64*|RTN4RL2_ENST00000533205.1_Nonsense_Mutation_p.R64*	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	64					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCACTCAGCGACTCTTCCT	0.622000													40	60					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511319	72511319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72511319G>A	ENST00000373208.1	+	17	2522	c.2522G>A	c.(2521-2523)aGc>aAc	p.S841N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S838N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	838	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTATCGGGAGCAACAATGTG	0.637000													29	42					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111089	29111089	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29111089G>A	ENST00000261590.8	+	9	1363	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	385	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTGAAAGAAGGCATTCATTTT	0.368000													4	96					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389445	129389445	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389445A>G	ENST00000393238.3	-	4	1579	c.1239T>C	c.(1237-1239)tcT>tcC	p.S413S	TMCC1_ENST00000329333.5_Silent_p.S234S|TMCC1_ENST00000426664.2_Silent_p.S299S|TMCC1_ENST00000432054.2_Silent_p.S89S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	413						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTGGGCTAGACTGAAAGT	0.512000													8	64					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900721	22900721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22900721G>A	ENST00000276431.4	-	2	464	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Silent_p.D60D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	60					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGAGCTAGGTCTTGTTGGG	0.572000													12	20					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94942270	94942270	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94942270G>A	ENST00000357742.4	+	14	1869	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	MCTP2_ENST00000331706.4_Silent_p.E211E|MCTP2_ENST00000557742.1_Silent_p.E211E|MCTP2_ENST00000451018.3_Silent_p.E623E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	623					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTACTTAGAGATGGACCTTA	0.373000													17	25					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96514768	96514768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96514768G>T	ENST00000283109.3	-	2	264	c.196C>A	c.(196-198)Cgt>Agt	p.R66S	RIOK2_ENST00000508447.1_Missense_Mutation_p.R66S|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	66							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTTGGTACGCTCCCAAGCT	0.393000													9	33					1.76689e-08	2.11513e-08	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100790181	100790181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100790181C>T	ENST00000323346.5	+	5	975	c.662C>T	c.(661-663)aCa>aTa	p.T221I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T221I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	221					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGACTGGCCACAACCTCTTTT	0.458000													16	34					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046330	1046330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1046330G>A	ENST00000263094.6	+	13	1778	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.R516H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R378H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	516					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R516H(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCGTCCGCGTGCTCAGC	0.692000													21	242					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845404	62845404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62845404C>T	ENST00000512091.1	+	17	3472	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	896					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483000													66	125					0	0	1	0	0
NFX1	0	broad.mit.edu	37	9	33295380	33295380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33295380C>T	ENST00000379540.3	+	2	1050	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NFX1_ENST00000379521.4_Nonsense_Mutation_p.R330*|NFX1_ENST00000318524.6_Nonsense_Mutation_p.R330*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	330					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCCTTTCTCCCGAGGCAAACA	0.408000													13	33					0	0	1	0	0
PRADC1	84279	broad.mit.edu	37	2	73456648	73456648	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73456648G>T	ENST00000258083.2	-	3	286	c.219C>A	c.(217-219)gcC>gcA	p.A73A	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	73						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						GTTCCCCGCAGGCCTCTGGAG	0.537000													5	91					0.184627	0.186383	1	1	0
GPR128	84873	broad.mit.edu	37	3	100365530	100365530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365530T>C	ENST00000273352.3	+	10	1496	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	GPR128_ENST00000475887.1_Missense_Mutation_p.C115R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	410	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCCTGCGCTGCCGCTGCAA	0.408000													11	46					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171742	106171742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171742G>A	ENST00000541806.1	+	2	803	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CLDN2_ENST00000336803.1_Missense_Mutation_p.C95Y|CLDN2_ENST00000540876.1_Missense_Mutation_p.C95Y	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	95					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCTGGCCTGCATTATCTCT	0.562000													12	89					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54319604	54319604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54319604G>A	ENST00000354646.2	-	9	2288	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	WNK3_ENST00000375159.2_Missense_Mutation_p.S617F|WNK3_ENST00000375169.3_Missense_Mutation_p.S617F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	617					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGTTGCTGAGATGAATAAAT	0.383000													6	16					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777290	18777290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777290C>T	ENST00000380548.4	+	19	3402	c.3063C>T	c.(3061-3063)taC>taT	p.Y1021Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1021						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGCCGCTACGACGACCTCG	0.692000													6	2					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226160	114226160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114226160G>A	ENST00000307546.9	+	21	4045	c.3970G>A	c.(3970-3972)Gct>Act	p.A1324T	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1349					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGTAATGCTGAGCAGAT	0.423000													26	45					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509948	117509948	+	Silent	SNP	C	C	A	rs151131304		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509948C>A	ENST00000393203.2	+	6	2202	c.2055C>A	c.(2053-2055)acC>acA	p.T685T	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	685						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTTCCAAACCTCAGGTGAGC	0.488000													4	37					0.00909568	0.00947522	1	1	0
KRT7	3855	broad.mit.edu	37	12	52635320	52635320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52635320G>A	ENST00000331817.5	+	5	941	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	253	Linker 12.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GACAACAGTCGCTCCCTGGAC	0.587000													17	39					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126739187	126739187	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126739187G>T	ENST00000251772.4	+	20	4038	c.3969_splice	c.e20+1	p.E1323_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1346_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1346					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGAGATGGAGGTAGGACCAC	0.602000													6	24					5.9392e-07	6.91975e-07	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43309427	43309427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43309427G>A	ENST00000380486.3	-	14	2138	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	C2CD2_ENST00000329623.7_Silent_p.L478L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	633						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGAAGAACAGCTTTGCACCT	0.557000													14	23					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734851	65734851	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65734851C>A	ENST00000312397.5	+	10	1402	c.1310C>A	c.(1309-1311)tCc>tAc	p.S437Y		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	437					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACTTTGGTTCCAGGTGGGCT	0.632000													58	101					2.3441e-25	3.11641e-25	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204115784	204115784	+	Silent	SNP	G	G	A	rs143999368	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204115784G>A	ENST00000367202.4	-	3	777	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Silent_p.N31N|ETNK2_ENST00000367201.3_Silent_p.N209N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	209							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTTGATCTCGTTCTTCACAA	0.517000													8	115					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152589210	152589210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152589210C>A	ENST00000367255.5	-	100	19397	c.18796G>T	c.(18796-18798)Gag>Tag	p.E6266*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5878*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6266*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E790*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6195*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6266					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGGTCTCTGCCGCCGAA	0.438000										HNSCC(10;0.0054)			23	23					1.96895e-08	2.35655e-08	1	1	0
ST13	6767	broad.mit.edu	37	22	41231579	41231579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231579C>T	ENST00000216218.3	-	7	1044	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TGCTTTCCCCCGCCACTTGTA	0.358000													24	195					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222757525	222757525	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222757525C>A	ENST00000350027.4	-	3	389	c.236G>T	c.(235-237)aGt>aTt	p.S79I	TAF1A_ENST00000543857.1_Missense_Mutation_p.S79I|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000352967.4_Missense_Mutation_p.S79I	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	79					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTGAAAATAACTGTACATGTA	0.408000													8	185					0.000274275	0.000298791	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143039110	143039110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143039110G>A	ENST00000343257.2	+	15	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	557					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537000													23	70					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81737106	81737106	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81737106A>T	ENST00000555447.1	-	7	2933	c.2521T>A	c.(2521-2523)Tct>Act	p.S841T	STON2_ENST00000267540.2_Missense_Mutation_p.S841T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	841	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGGAGGCAGAAGTTGTGGGC	0.502000													39	89					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394057	233394057	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394057C>T	ENST00000258229.8	-	5	1785	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	517						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTACAAGACGATGGGTCAA	0.522000													26	34					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3214594	3214594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3214594C>A	ENST00000231948.4	-	4	415	c.393G>T	c.(391-393)agG>agT	p.R131S	CRBN_ENST00000432408.2_Missense_Mutation_p.R130S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	131	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACTGTGCTTCCCTTTCCTGTA	0.338000													33	86					1.62565e-12	2.04655e-12	1	1	0
UBIAD1	29914	broad.mit.edu	37	1	11333834	11333834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11333834G>A	ENST00000376810.5	+	1	572	c.246G>A	c.(244-246)agG>agA	p.R82R	UBIAD1_ENST00000376804.2_Silent_p.R82R	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	82					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGGATCCCAGGCTCTTGGTGG	0.587000													12	115					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120436392	120436392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120436392G>A	ENST00000397558.2	+	2	497	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	166					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGAAGGCCGAGTGTCAGAG	0.488000													11	21					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774687	183774687	+	Silent	SNP	C	C	T	rs140566773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774687C>T	ENST00000318351.1	+	5	448	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	138						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACGCCTTCCGGTCTCACTG	0.507000													7	112					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55762081	55762081	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55762081G>T	ENST00000278409.1	-	1	20	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGTCAGTGAGGTATAATTTT	0.308000													5	77					3.59834e-05	4.01776e-05	1	1	0
ATP1B4	23439	broad.mit.edu	37	X	119500594	119500594	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119500594T>G	ENST00000218008.3	+	2	335	c.278T>G	c.(277-279)cTg>cGg	p.L93R	ATP1B4_ENST00000539306.1_Missense_Mutation_p.L93R|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L93R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGTGAATACCTGTGGGATCCA	0.498000													23	23					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48684218	48684218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48684218G>T	ENST00000435803.1	+	61	14973	c.14949G>T	c.(14947-14949)caG>caT	p.Q4983H	ABCA13_ENST00000544596.1_Missense_Mutation_p.Q713H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4983					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGGGACAGCACCTGAATT	0.279000													15	10					2.31682e-05	2.60394e-05	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11145688	11145688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11145688C>T	ENST00000358026.2	+	29	4334	c.4050C>T	c.(4048-4050)gaC>gaT	p.D1350D	SMARCA4_ENST00000590574.1_Silent_p.D1317D|SMARCA4_ENST00000413806.3_Silent_p.D1317D|SMARCA4_ENST00000344626.4_Silent_p.D1350D|SMARCA4_ENST00000541122.2_Silent_p.D1317D|SMARCA4_ENST00000589677.1_Silent_p.D1317D|SMARCA4_ENST00000429416.3_Silent_p.D1350D|SMARCA4_ENST00000444061.3_Silent_p.D1317D|SMARCA4_ENST00000450717.3_Silent_p.D1317D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1350					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGGACGACGCGGAGG	0.667000			"""F, N, Mis"""		NSCLC								7	7					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80946145	80946145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80946145C>T	ENST00000320672.4	-	2	286	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I|SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	26	LisH.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	p.V26I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284000													4	9					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71846867	71846867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71846867G>T	ENST00000373545.3	-	17	2185	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	PHKA1_ENST00000373542.4_Missense_Mutation_p.L583M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L583M|PHKA1_ENST00000339490.3_Missense_Mutation_p.L583M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L583M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	583					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTGCTGCCAGGATACTTGAA	0.373000													46	94					1.46156e-29	1.95626e-29	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004149	42004149	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004149C>T	ENST00000395925.3	-	15	4606	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1508	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTATGATGGCATCGAAGTCA	0.552000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				30	33					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	rs111244757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622000													15	22					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124886954	124886954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124886954G>T	ENST00000356219.3	-	15	1791	c.1636C>A	c.(1636-1638)Ctc>Atc	p.L546I	NCOR2_ENST00000404621.1_Missense_Mutation_p.L545I|NCOR2_ENST00000397355.1_Missense_Mutation_p.L546I|NCOR2_ENST00000429285.2_Missense_Mutation_p.L545I|NCOR2_ENST00000405201.1_Missense_Mutation_p.L546I|NCOR2_ENST00000404121.2_Missense_Mutation_p.L116I	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	546					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTACTTGAGGAGGTCTTCC	0.637000													4	70					1	1	1	1	0
PARP16	54956	broad.mit.edu	37	15	65553256	65553256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65553256T>C	ENST00000261888.6	-	5	1245	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	PARP16_ENST00000444347.2_Missense_Mutation_p.Y152C	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	267	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACCAGGAGGTACTTCACTCG	0.483000													15	141					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978114	61978114	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61978114C>T	ENST00000370263.4	-	6	2081	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	620					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCCAGGGCGGCAGGAAGA	0.672000													5	11					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134109457	134109457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134109457G>A	ENST00000452510.2	+	5	677	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DDX46_ENST00000354283.4_Silent_p.E173E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	173					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGAGAAGAGCAACGTAAAA	0.373000													14	17					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103107184	103107184	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103107184T>C	ENST00000375735.2	+	63	9879	c.9735T>C	c.(9733-9735)tgT>tgC	p.C3245C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C3245C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3245	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTTCTTTGTACTGAAAGTG	0.318000													24	50					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515893	195515893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515893C>T	ENST00000463781.3	-	2	3017	c.2558G>A	c.(2557-2559)aGt>aAt	p.S853N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S853N|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	858	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCACCATGACTGGCTGAGGC	0.567000													6	34					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49190357	49190357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190357G>T	ENST00000406846.2	-	10	1722	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	FSHR_ENST00000541117.1_Missense_Mutation_p.L271I|FSHR_ENST00000346173.3_Missense_Mutation_p.L473I|FSHR_ENST00000304421.4_Missense_Mutation_p.L509I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGAGCACAAGGAGGGACATG	0.517000									Gonadal Dysgenesis, 46 XX				12	14					1.5842e-08	1.90059e-08	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502272	90502272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90502272G>A	ENST00000325643.5	+	4	2936	c.2870G>A	c.(2869-2871)gGg>gAg	p.G957E		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.G957V(1)									AAGGGCAGGGGGTGTTCTCAG	0.622000													4	38					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367204	107367204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107367204G>A	ENST00000542196.1	-	1	747	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGAAGCTTTGCTTCTCCCCT	0.403000													50	63					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987304	61987304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61987304C>T	ENST00000450719.3	-	3	644	c.407G>A	c.(406-408)aGc>aAc	p.S136N	CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.S147N|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGACCAAGCGCTTGGGCACTG	0.527000													30	49					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038558	89038558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89038558C>T	ENST00000251038.5	+	5	645	c.420C>T	c.(418-420)acC>acT	p.T140T	ZC3H14_ENST00000302216.8_Silent_p.T140T|ZC3H14_ENST00000359301.3_Silent_p.T106T|ZC3H14_ENST00000555755.1_Silent_p.T140T|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.T140T|ZC3H14_ENST00000393514.5_Silent_p.T140T|ZC3H14_ENST00000336693.4_Silent_p.T106T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	140						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTCAAAAACCACAAATGTCA	0.448000													7	27					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27088761	27088761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27088761G>T	ENST00000324856.7	+	7	2741	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q790H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q407H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	790					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACCAGCAGAACTCCATGG	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	54					1	1	1	1	0
NLRC5	84166	broad.mit.edu	37	16	57063993	57063993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57063993C>T	ENST00000436936.1	+	10	2639	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A805V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A805V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A805V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	805					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGCTTCAGGCCAGGTGAGCA	0.562000													5	44					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979852	40979852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40979852G>T	ENST00000313164.9	+	17	2550	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	731	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTGCTCAAGATGAGAGAAG	0.388000													16	21					3.41278e-10	4.19267e-10	1	1	0
PLD1	5337	broad.mit.edu	37	3	171392295	171392295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392295C>T	ENST00000356327.5	-	18	2180	c.2110G>A	c.(2110-2112)Gta>Ata	p.V704I	PLD1_ENST00000340989.4_Missense_Mutation_p.V742I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.V742I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTACCTGTACGTTAGCATGG	0.393000													10	54					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60053414G>T	ENST00000505959.1	-	10	1045	c.519C>A	c.(517-519)tcC>tcA	p.S173S	ELOVL7_ENST00000508821.1_Silent_p.S186S|ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373000													6	65					0.00307968	0.00325696	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178917576	178917576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178917576G>A	ENST00000263967.3	+	3	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	151					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAAGAAGCTGTGGATCTTAG	0.383000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	115					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821135	5821135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821135C>T	ENST00000381095.3	-	5	2211	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	NLGN4X_ENST00000275857.6_Silent_p.T528T|NLGN4X_ENST00000381093.2_Silent_p.T548T|NLGN4X_ENST00000381092.1_Silent_p.T528T|NLGN4X_ENST00000538097.1_Silent_p.T528T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	528					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGAAGTTCGTCCAGTAGG	0.502000													24	44					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163935	42163935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42163935G>A	ENST00000520810.1	+	7	738	c.552G>A	c.(550-552)ggG>ggA	p.G184G	IKBKB_ENST00000520835.1_Silent_p.G182G|IKBKB_ENST00000416505.2_Silent_p.G125G|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Silent_p.G184G|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	184	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CATTCGTGGGGACCCTGCAGT	0.512000													11	21					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27239830	27239830	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27239830G>C	ENST00000577226.1	-	9	2105	c.1759C>G	c.(1759-1761)Cca>Gca	p.P587A	PHF12_ENST00000332830.4_Missense_Mutation_p.P587A|PHF12_ENST00000268756.3_Missense_Mutation_p.P587A|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	587	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCGCTGGTGGCGTGAGGGGC	0.652000													3	55					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140512	50140512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50140512C>A	ENST00000371564.3	-	2	487	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NFATC2_ENST00000414705.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000396009.3_Missense_Mutation_p.D90Y	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	90					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.D90Y(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTACCCTATCCGGCTCTCCG	0.647000													9	69					1.76689e-08	2.11513e-08	1	1	0
DEGS1	8560	broad.mit.edu	37	1	224380147	224380147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224380147G>T	ENST00000323699.4	+	3	1105	c.939G>T	c.(937-939)aaG>aaT	p.K313N	DEGS1_ENST00000391877.3_Missense_Mutation_p.K313N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	313					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAAGAATGAAGAGGCACCAAA	0.363000													4	36					0.000602214	0.000649039	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190585463	190585463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190585463G>T	ENST00000520309.1	+	12	2673	c.2585G>T	c.(2584-2586)aGa>aTa	p.R862I	ANKAR_ENST00000313581.4_Missense_Mutation_p.R862I|ANKAR_ENST00000281412.6_Missense_Mutation_p.R626I|ANKAR_ENST00000438402.2_Missense_Mutation_p.R862I|ANKAR_ENST00000431575.2_Missense_Mutation_p.R791I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	862						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGCTGTGAGAGAACATAAA	0.313000													65	133					1.4051e-37	1.89297e-37	1	1	0
SF1	7536	broad.mit.edu	37	11	64540927	64540927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64540927C>A	ENST00000377390.3	-	3	548	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SF1_ENST00000377394.3_Missense_Mutation_p.G71C|SF1_ENST00000334944.5_Missense_Mutation_p.G71C|SF1_ENST00000433274.2_Missense_Mutation_p.G45C|SF1_ENST00000227503.9_Missense_Mutation_p.G71C|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Missense_Mutation_p.G196C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	71					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGGATGCCCAGGTCTCCT	0.443000													3	25					0.00909568	0.00947522	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247492846	247492846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492846G>A	ENST00000294753.4	-	3	499	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZNF496_ENST00000366498.2_Missense_Mutation_p.P12L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	12					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTTCCTTCGGAGCCAAGAC	0.592000													43	76					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695729	12695729	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12695729C>T	ENST00000388918.5	+	3	729	c.600C>T	c.(598-600)ttC>ttT	p.F200F	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	200					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAAGACTTTCCTTGGGGTAG	0.448000									Oculocutaneous Albinism				28	57					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2749465	2749465	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2749465C>T	ENST00000510267.1	-	2	590	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	TNIP2_ENST00000503235.1_Missense_Mutation_p.A162T|TNIP2_ENST00000315423.7_Missense_Mutation_p.A162T	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	162						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACATGTGGGCGGTGGCGGTC	0.627000													65	93					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114352798	114352798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114352798C>T	ENST00000545145.2	-	21	2612	c.2534G>A	c.(2533-2535)aGc>aAc	p.S845N	RBM19_ENST00000392561.3_Missense_Mutation_p.S845N|RBM19_ENST00000261741.5_Missense_Mutation_p.S845N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	845	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATCTCCCGGCTGTGGGCCTG	0.602000													40	91					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67272337	67272337	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272337G>A	ENST00000258201.4	-	4	634	c.387C>T	c.(385-387)agC>agT	p.S129S	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532000													11	9					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955822	51955822	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51955822G>T	ENST00000321424.3	-	7	1377	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SIGLEC8_ENST00000430817.1_Silent_p.P328P|SIGLEC8_ENST00000340550.5_Silent_p.P344P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	437					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTGACGAGGGGGCAACAG	0.572000													7	40					0.000157383	0.00017284	1	1	0
IRS4	8471	broad.mit.edu	37	X	107977626	107977626	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977626C>A	ENST00000372129.2	-	1	2025	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATCTTCCCCCAGACTTCCC	0.498000													143	267					1.91924e-68	2.59825e-68	1	1	0
TPH2	121278	broad.mit.edu	37	12	72425324	72425324	+	Missense_Mutation	SNP	G	G	A	rs120074175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72425324G>A	ENST00000333850.3	+	11	1463	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAATTACCCGTCCCTTCTCA	0.418000													22	28					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86900358	86900358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86900358C>T	ENST00000370565.4	+	6	1064	c.902C>T	c.(901-903)aCa>aTa	p.T301I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	301					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCCTCCCACATTCTCGCTT	0.478000													35	128					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591742	111591742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111591742C>T	ENST00000304987.3	+	12	2073	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	634					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAACCTGGCGCCGGCGGCTCC	0.532000													23	54					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718910	108718910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108718910C>T	ENST00000218006.2	-	2	547	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	86					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGATGGGTCCCGGTTGATT	0.502000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	143					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102523	66102523	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102523C>G	ENST00000311320.4	-	6	873	c.747G>C	c.(745-747)gtG>gtC	p.V249V	RIN1_ENST00000424433.2_Silent_p.V144V|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.V144V	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTCTGTGGACACGCGCACTT	0.672000													20	38					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50906115	50906115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50906115G>A	ENST00000380817.2	-	4	467	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SBF1_ENST00000390679.3_Missense_Mutation_p.T95M|SBF1_ENST00000348911.6_Missense_Mutation_p.T96M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	95					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGCGCGTCGTTTCCTGCTG	0.652000													13	13					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440410	99440410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99440410A>G	ENST00000287042.4	+	2	553	c.203A>G	c.(202-204)gAg>gGg	p.E68G	KCNS2_ENST00000521839.1_Missense_Mutation_p.E68G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCCAGCGGGAGTTCTACTTC	0.607000													29	46					0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52029074	52029074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52029074T>C	ENST00000481629.1	-	3	118	c.86A>G	c.(85-87)tAc>tGc	p.Y29C	RPL29_ENST00000466397.1_Missense_Mutation_p.Y29C|RPL29_ENST00000294189.6_Missense_Mutation_p.Y29C|RPL29_ENST00000495383.1_Missense_Mutation_p.Y29C|RPL29_ENST00000475248.1_Missense_Mutation_p.Y29C|RPL29_ENST00000479017.1_Missense_Mutation_p.Y29C			P47914	RL29_HUMAN	ribosomal protein L29	29					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAGATTCGTATCTTTGTGA	0.428000													10	135					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83215914	83215914	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83215914T>G	ENST00000563800.1	-	10	3279	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	CPEB1_ENST00000261723.6_Missense_Mutation_p.K494N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K421N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K416N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K416N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.K226T|CPEB1_ENST00000423133.2_Missense_Mutation_p.K416N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K491N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K416N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K265N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K496N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	496	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTGGTGGTTTTGATCTCCA	0.493000													33	40					0	0	1	0	0
SNORA7B	0	broad.mit.edu	37	3	129116154	129116154	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116154G>T	ENST00000384360.1	-	0	37				RPL32P3_ENST00000514355.1_RNA	NR_002992.2																						GAAGCTGGCAGAATACTAGGC	0.547000													27	63					3.65163e-15	4.68019e-15	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24451535	24451535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24451535G>A	ENST00000398319.2	+	9	1391	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CABIN1_ENST00000405822.2_Missense_Mutation_p.A286T|CABIN1_ENST00000263119.5_Missense_Mutation_p.A336T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	336					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGGCTGTCGCCGAGCCTGT	0.612000													16	32					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76548704	76548704	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76548704C>A	ENST00000314067.6	+	6	396	c.362C>A	c.(361-363)cCt>cAt	p.P121H	IFT43_ENST00000238628.6_Missense_Mutation_p.P126H	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	121					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGGCAGCCCCTCCCAGGTAG	0.458000													16	205					0.00400662	0.00423533	1	1	0
MACF1	23499	broad.mit.edu	37	1	39895603	39895603	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39895603C>T	ENST00000564288.1	+	65	17770	c.16993C>T	c.(16993-16995)Cgg>Tgg	p.R5665W	MACF1_ENST00000545844.1_Missense_Mutation_p.R3603W|MACF1_ENST00000289893.4_Missense_Mutation_p.R4105W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5702W|MACF1_ENST00000372915.3_Missense_Mutation_p.R5561W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3603W|MACF1_ENST00000361689.2_Missense_Mutation_p.R3603W|MACF1_ENST00000539005.1_Missense_Mutation_p.R3473W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5670					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCAAGCCCGGCAGCTGGC	0.532000													13	29					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27351333	27351333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27351333C>T	ENST00000316470.4	+	2	253	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	47						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGGCCGCAGTTTCTGGC	0.567000													7	72					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681736	161681736	+	Missense_Mutation	SNP	C	C	T	rs140395904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161681736C>T	ENST00000540926.1	+	5	823	c.530C>T	c.(529-531)gCg>gTg	p.A177V	FCRLA_ENST00000540521.1_Missense_Mutation_p.A54V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.A99V|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.A177V|FCRLA_ENST00000367957.2_Missense_Mutation_p.A48V|FCRLA_ENST00000236938.6_Missense_Mutation_p.A188V|FCRLA_ENST00000367959.2_Missense_Mutation_p.A194V|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.A82V|FCRLA_ENST00000294796.4_Missense_Mutation_p.A37V			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGTTTCCAGCGCCAATTCTC	0.522000													111	225					0	0	1	0	0
KREMEN1	0	broad.mit.edu	37	22	29533483	29533483	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29533483A>G	ENST00000400338.2	+	6	838	c.785A>G	c.(784-786)gAc>gGc	p.D262G	KREMEN1_ENST00000407188.1_Missense_Mutation_p.D260G|KREMEN1_ENST00000400335.4_Missense_Mutation_p.D262G|KREMEN1_ENST00000327813.5_Missense_Mutation_p.D262G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	260	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCCTATTTGACATCAGGGAC	0.632000													7	69					0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800436	32800436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32800436G>T	ENST00000329421.7	-	2	695	c.350C>A	c.(349-351)tCt>tAt	p.S117Y		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	117						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGGAGGCAGAAGAATCACC	0.572000													13	23					1.52009e-12	1.91418e-12	1	1	0
IPO4	79711	broad.mit.edu	37	14	24656974	24656974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24656974G>A	ENST00000354464.6	-	5	483	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	103					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTGGCTGAGAGCTGGGCCAGG	0.572000													17	31					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204624	135204624	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135204624G>T	ENST00000372169.2	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I			Q7Z333	SETX_HUMAN	senataxin	787					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328000													7	74					2.0095e-06	2.31757e-06	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28196637	28196637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28196637C>T	ENST00000305242.5	-	17	2657	c.2565G>A	c.(2563-2565)aaG>aaA	p.K855K	ARMC4_ENST00000537576.1_Silent_p.K547K|ARMC4_ENST00000545014.1_Silent_p.K380K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	855							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCGCTGGCCTTCACGTCTG	0.433000													24	44					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133226432	133226432	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133226432G>T	ENST00000320574.5	-	30	3669	c.3626C>A	c.(3625-3627)gCt>gAt	p.A1209D	POLE_ENST00000535270.1_Missense_Mutation_p.A1182D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1209					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCAGGAGCACTTGGCCT	0.597000								DNA polymerases (catalytic subunits)					14	20					4.3838e-07	5.12524e-07	1	1	0
MYH2	4620	broad.mit.edu	37	17	10451166	10451166	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10451166G>A	ENST00000245503.5	-	3	456	c.72C>T	c.(70-72)cgC>cgT	p.R24R	MYH2_ENST00000397183.2_Silent_p.R24R|MYH2_ENST00000532183.1_Silent_p.R24R|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	24	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCAATGCGCTCCCTTT	0.512000													6	54					0	0	1	0	0
GSTA4	2941	broad.mit.edu	37	6	52849275	52849275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52849275G>A	ENST00000541324.1	-	3	387	c.122C>T	c.(121-123)cCt>cTt	p.P41L	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Missense_Mutation_p.P134L|GSTA4_ENST00000370960.1_Missense_Mutation_p.P41L			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	134	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TTCAAACACAGGAAAGTATCT	0.433000													29	58					0	0	1	0	0
ITGA6	0	broad.mit.edu	37	2	173337563	173337563	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173337563G>A	ENST00000375221.2	+	6	1040	c.837G>A	c.(835-837)cgG>cgA	p.R279R	ITGA6_ENST00000264106.6_Silent_p.R279R|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Silent_p.R121R|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000343713.4_Silent_p.R235R			P23229	ITA6_HUMAN	integrin, alpha 6	279					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATAAAACACGGCCTCCCCGGG	0.468000													31	77					0	0	1	0	0
PGBD2	0	broad.mit.edu	37	1	249212402	249212402	+	Missense_Mutation	SNP	G	G	A	rs139567720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249212402G>A	ENST00000355360.4	+	3	1136	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	PGBD2_ENST00000329291.5_Missense_Mutation_p.R540Q|PGBD2_ENST00000539153.1_Missense_Mutation_p.R537Q	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	540										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGAAGCAGGCGGTTGGAGACT	0.562000													37	53					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702331	23702331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702331G>A	ENST00000256797.4	-	22	2914	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.R816*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	868					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTGCCTGTCGCACCTCAACT	0.632000													4	55					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558852	1558852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1558852C>T	ENST00000357210.4	+	3	410	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MIB2_ENST00000504599.1_Missense_Mutation_p.A21V|MIB2_ENST00000355826.5_Missense_Mutation_p.A108V|MIB2_ENST00000378712.1_Missense_Mutation_p.A7V|MIB2_ENST00000520777.1_Missense_Mutation_p.A122V|MIB2_ENST00000378708.1_Missense_Mutation_p.A7V|MIB2_ENST00000378710.3_Missense_Mutation_p.A65V|MIB2_ENST00000360522.4_Missense_Mutation_p.A65V|MIB2_ENST00000518681.1_Missense_Mutation_p.A122V|MIB2_ENST00000505820.2_Missense_Mutation_p.A122V|MIB2_ENST00000512004.1_3'UTR	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	65	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCCCCAGGCGGGCGTGCAG	0.736000													4	9					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307196	14307196	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14307196G>A	ENST00000380959.3	-	2	827	c.354C>T	c.(352-354)atC>atT	p.I118I	NFIB_ENST00000397579.2_Silent_p.I118I|NFIB_ENST00000397575.3_Silent_p.I118I|NFIB_ENST00000397581.2_Silent_p.I118I|NFIB_ENST00000380934.4_Silent_p.I144I|NFIB_ENST00000380953.1_Silent_p.I118I|NFIB_ENST00000380921.3_Silent_p.I118I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	118					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCAGGCAGTCGATTCTCCTAA	0.537000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								4	83					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74688581	74688581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74688581G>A	ENST00000233616.4	-	4	2497	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MOGS_ENST00000452063.2_Missense_Mutation_p.R673W|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	779					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTGGCAGCCCGAGCCTGGTGA	0.597000													28	50					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376920	52376920	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376920G>T	ENST00000301399.5	-	7	688	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378000													9	53					3.09899e-07	3.63227e-07	1	1	0
DEF6	50619	broad.mit.edu	37	6	35278292	35278292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35278292G>A	ENST00000316637.5	+	3	299	c.294G>A	c.(292-294)acG>acA	p.T98T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	98						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGACGCTGACGGCCAAGAAGA	0.537000													38	37					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131744902	131744902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131744902C>T	ENST00000372577.2	+	16	1612	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	531					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATACCTGGTACGCTGGGAATA	0.463000													28	41					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439997	75439997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75439997T>C	ENST00000526712.1	+	4	1340	c.567T>C	c.(565-567)ttT>ttC	p.F189F	MOGAT2_ENST00000198801.5_Silent_p.F271F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	271					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGTACAGCTTTGGTTTAATAC	0.562000													5	69					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38786991	38786991	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38786991G>A	ENST00000348513.6	-	10	1782	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	SMARCE1_ENST00000377808.4_Silent_p.D299D|SMARCE1_ENST00000431889.2_Silent_p.D316D|SMARCE1_ENST00000400122.3_Silent_p.D264D|SMARCE1_ENST00000544009.1_Silent_p.D264D|SMARCE1_ENST00000578044.1_Silent_p.D264D|SMARCE1_ENST00000580419.1_Silent_p.D299D|KRT222_ENST00000476049.1_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	334	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGTTCTCGTCGTCTTTCTTCT	0.498000													70	153					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41904531	41904531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41904531C>T	ENST00000381647.2	+	1	81	c.62C>T	c.(61-63)gCc>gTc	p.A21V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	21										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGCTCAGGCCCACATACAG	0.657000													8	8					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37315910	37315910	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37315910A>G	ENST00000373091.3	-	9	1343		c.e9+1		GRIK3_ENST00000462621.1_Splice_Site|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGGCTCTTACCAGCACTGT	0.612000													3	60					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821341	43821341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43821341G>A	ENST00000382031.1	+	5	8415	c.8384G>A	c.(8383-8385)gGc>gAc	p.G2795D	MAP1A_ENST00000399453.1_Missense_Mutation_p.G2557D|MAP1A_ENST00000300231.5_Missense_Mutation_p.G2557D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2557						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAGGCCTGGCCATGACCCA	0.637000													19	21					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33549655	33549655	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33549655T>C	ENST00000294517.6	+	5	793	c.206T>C	c.(205-207)gTc>gCc	p.V69A	ADC_ENST00000358680.3_Missense_Mutation_p.V69A|ADC_ENST00000398167.1_Missense_Mutation_p.V69A|ADC_ENST00000373440.1_Missense_Mutation_p.V69A|ADC_ENST00000373441.1_Missense_Mutation_p.V69A|ADC_ENST00000373443.3_Missense_Mutation_p.V69A|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	69					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTTATGCTGTCAAGTGCAAC	0.592000													6	59					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153940612	153940612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940612G>A	ENST00000369575.3	-	4	989	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.R321W	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	320										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCGCCGTTCAGACAGA	0.493000													53	85					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46994913	46994913	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46994913T>C	ENST00000264318.3	-	2	1119	c.137A>G	c.(136-138)gAa>gGa	p.E46G	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGAAATTTTCTGTGCACAA	0.458000													5	57					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063719	69063719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69063719G>A	ENST00000535407.1	+	2	1271	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	MYEOV_ENST00000441339.2_Missense_Mutation_p.A268T|MYEOV_ENST00000308946.3_Missense_Mutation_p.A268T			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	268										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTGTTGAGGCCCTGGGGGG	0.672000													13	13					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104764	74104764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104764G>A	ENST00000370336.4	+	1	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G46S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	46						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATATAGTGTCGGCAGAGGTGG	0.622000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	45					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226360	42226360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42226360C>T	ENST00000319977.4	+	3	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	C17orf53_ENST00000585683.1_Missense_Mutation_p.R397C|C17orf53_ENST00000245382.6_Missense_Mutation_p.R397C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	397										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAAACTCGCCGTTTCCCTGG	0.617000													18	36					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6946155	6946155	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6946155G>T	ENST00000251761.8	+	0	1498				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TTAGGATGCAGCTGGGGCTGG	0.647000													12	15					1.05317e-09	1.28483e-09	1	1	0
GPR160	26996	broad.mit.edu	37	3	169802423	169802423	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169802423C>A	ENST00000355897.5	+	4	1271	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	221						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGAAACTATCTTATATTTTC	0.338000													8	72					7.48243e-07	8.70085e-07	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176005051	176005051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176005051C>T	ENST00000510636.1	+	15	1803	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CDHR2_ENST00000506348.1_Missense_Mutation_p.T510M|CDHR2_ENST00000261944.5_Missense_Mutation_p.T510M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	510	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCCAGACACGGGCGCGTGG	0.667000													3	20					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27010624	27010624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:27010624G>A	ENST00000382009.3	+	11	2041	c.1774_splice	c.e11+1	p.G592_splice	STIM2_ENST00000412829.2_Splice_Site_p.G584_splice|STIM2_ENST00000467087.1_Splice_Site_p.G497_splice|STIM2_ENST00000465503.1_Splice_Site_p.G505_splice|STIM2_ENST00000237364.5_Splice_Site_p.G584_splice|STIM2_ENST00000467011.1_Splice_Site_p.G497_splice	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATTTCCCGGTAAGTGGCA	0.408000													19	61					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	868969	868969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:868969G>A	ENST00000381922.3	-	3	681	c.579C>T	c.(577-579)ggC>ggT	p.G193G	ANGPT4_ENST00000546022.1_Silent_p.G193G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	193					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTGTTTTGGCCCTGAAGCT	0.587000													14	36					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25175976	25175976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25175976C>T	ENST00000399069.3	+	7	782	c.627C>T	c.(625-627)tcC>tcT	p.S209S	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	209							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	p.S209S(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAGAGCAGTCCGCAAACCTCC	0.428000													4	72					0	0	1	0	0
C3P1	0	broad.mit.edu	37	19	10169550	10169550	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10169550C>T	ENST00000495140.1	+	0	1950																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GACATTCAGACAACCTTTGCC	0.582000													13	48					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87342789	87342789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87342789C>T	ENST00000304053.6	+	9	1557	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	NTRK2_ENST00000323115.4_Silent_p.D358D|NTRK2_ENST00000376213.1_Silent_p.D358D|NTRK2_ENST00000376214.1_Silent_p.D358D|NTRK2_ENST00000395882.1_Silent_p.D358D|NTRK2_ENST00000359847.3_Silent_p.D358D|NTRK2_ENST00000376208.1_Silent_p.D358D|NTRK2_ENST00000277120.3_Silent_p.D358D|NTRK2_ENST00000395866.2_Silent_p.D202D	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	358	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACAATGGGGACTACACTCTAA	0.453000										TSP Lung(25;0.17)			21	50					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8606809	8606809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8606809G>T	ENST00000338257.8	-	15	1858	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCATCAGCTCTATGAGG	0.617000													7	56					0.00448238	0.00472561	1	1	0
BLMH	642	broad.mit.edu	37	17	28601165	28601165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28601165G>T	ENST00000261714.6	-	7	870	c.696C>A	c.(694-696)acC>acA	p.T232T	BLMH_ENST00000394819.3_Silent_p.T145T|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GATATTCCCAGGTGAATGTCT	0.438000													7	42					2.0095e-06	2.31757e-06	1	1	0
PCDHB4	0	broad.mit.edu	37	5	140501652	140501652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140501652G>T	ENST00000194152.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		24					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGTCTCAGGTTCGCCTCG	0.498000													12	31					0.00185496	0.00197886	1	1	0
VWA8	23078	broad.mit.edu	37	13	42440107	42440107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42440107G>A	ENST00000379310.3	-	11	1346	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	VWA8_ENST00000281496.6_Silent_p.S426S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GCTGCTTATGGCTCAAAGTCT	0.423000													43	39					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10387155	10387155	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10387155G>A	ENST00000274140.5	+	5	516	c.384G>A	c.(382-384)acG>acA	p.T128T	MARCH6_ENST00000449913.2_Silent_p.T80T|MARCH6_ENST00000503788.1_Silent_p.T23T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	128					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CACTACTGACGCTGCCATTAG	0.428000													24	30					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915984	72915984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72915984A>G	ENST00000319642.1	-	2	1129	c.947T>C	c.(946-948)gTg>gCg	p.V316A		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	316					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCGGAACACCATGGTGCC	0.697000													30	64					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909767	52909767	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909767G>T	ENST00000391788.2	+	6	635		c.e6-1		ZNF528_ENST00000598192.1_Splice_Site|ZNF528_ENST00000360465.3_Splice_Site|ZNF528_ENST00000594530.1_Splice_Site			Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTTATAAATAGGAATCTGTCT	0.403000													11	48					4.3838e-07	5.12524e-07	1	1	0
LRFN4	78999	broad.mit.edu	37	11	66626355	66626355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626355G>T	ENST00000309602.4	+	1	1383	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	380						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGTGCCGAGGGGGGCCGCC	0.711000													4	6					2.56e-06	2.9446e-06	1	1	0
HMGCS1	3157	broad.mit.edu	37	5	43298869	43298869	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43298869A>T	ENST00000325110.6	-	3	405	c.199T>A	c.(199-201)Tct>Act	p.S67T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S67T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	67					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATGCAAAGAGAGTTAATATCT	0.433000													48	78					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123465527	123465527	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123465527T>A	ENST00000529750.1	+	5	752	c.425T>A	c.(424-426)aTc>aAc	p.I142N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.I142N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.I149N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	142	GRAM.					integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAGCAACATCTTCCGCTGG	0.517000													15	38					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517367	34517367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34517367G>A	ENST00000242317.4	+	19	2074	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	635					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCTCACCCACGTGCAGTTCAA	0.532000									Kartagener syndrome				15	12					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50050932	50050932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50050932C>T	ENST00000335154.5	-	7	880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R165H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R216H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R216H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	216	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R216H(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCACTAGGCGGGAGTTCTT	0.577000													10	86					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715763	10715763	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10715763G>A	ENST00000377022.3	-	9	1925	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	CASZ1_ENST00000344008.5_Silent_p.S536S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S536S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTAGTAGACGCTGCAGTCGT	0.622000													15	19					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982040	93982040	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93982040T>G	ENST00000369303.4	-	6	1609	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTTCATATTCTGTGATGA	0.443000													13	118					0	0	1	0	0
FAM24B	196792	broad.mit.edu	37	10	124608857	124608857	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124608857G>T	ENST00000368898.3	-	4	481	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FAM24B_ENST00000462859.1_5'UTR|FAM24B_ENST00000368896.1_Missense_Mutation_p.S64Y|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	64						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGACAAGACTCCGTGGC	0.512000													29	28					1.04121e-07	1.23433e-07	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65409022	65409022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65409022G>A	ENST00000394224.3	+	2	926	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SIPA1_ENST00000534313.1_Silent_p.E210E|SIPA1_ENST00000394227.3_Silent_p.E210E|SIPA1_ENST00000527525.1_Silent_p.E210E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	210					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGCCTGGAGCACGCAGACC	0.622000													14	17					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62277144	62277144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62277144C>A	ENST00000261517.5	-	19	1706	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E545*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E502*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E502*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	545					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTGTTTTCTCTTATCGTA	0.323000													6	51					1.12685e-05	1.27857e-05	1	1	0
TICRR	90381	broad.mit.edu	37	15	90119199	90119199	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90119199A>G	ENST00000268138.7	+	1	487	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S128G					TOPBP1-interacting checkpoint and replication regulator																		GATCCTGCGGAGCAGCGGGAG	0.706000													3	5					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6632715	6632715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6632715T>C	ENST00000264670.6	-	2	562	c.251A>G	c.(250-252)aAa>aGa	p.K84R	NSUN2_ENST00000506139.1_Missense_Mutation_p.K84R|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	84						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCCTACCTTTTGTAACCAGT	0.547000													11	104					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46903448	46903448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46903448C>T	ENST00000378623.1	-	20	2861	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	873					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTCCAATACATGTACCTGG	0.512000													5	40					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964198	70964198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70964198G>A	ENST00000357250.6	-	25	1858	c.1700C>T	c.(1699-1701)gCa>gTa	p.A567V	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.A324V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A324V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	567	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGCAATCCTGCATCACCAGG	0.383000													22	26					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710594	152710594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152710594G>A	ENST00000330912.2	-	13	1845	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	TREX2_ENST00000334497.2_Missense_Mutation_p.R142W|TREX2_ENST00000414588.1_Missense_Mutation_p.R141W|TREX2_ENST00000370231.2_Missense_Mutation_p.R99W|TREX2_ENST00000370232.1_Missense_Mutation_p.R142W|TREX2_ENST00000402951.1_Missense_Mutation_p.R142W|TREX2_ENST00000393862.2_Missense_Mutation_p.R99W|TREX2_ENST00000338525.2_Missense_Mutation_p.R99W			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	142					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCGTCCGCACCACGGCG	0.667000								Editing and processing nucleases					11	12					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703680	3703680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703680G>A	ENST00000378251.1	-	2	837	c.810C>T	c.(808-810)ggC>ggT	p.G270G		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	270					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCGGCACGGCCCTTGCCCT	0.657000													12	23					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062159	97062159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97062159C>A	ENST00000395395.2	+	5	409	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	107						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCGCAGCTCCTCAGACAATA	0.498000													4	42					0.150653	0.152692	1	1	0
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	G	C	rs139429864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6232933G>C	ENST00000265978.4	-	12	3122	c.2764C>G	c.(2764-2766)Cgg>Ggg	p.R922G	FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908G|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597000													8	86					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77635939	77635939	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77635939C>A	ENST00000534064.1	-	12	1406		c.e12-1		INTS4_ENST00000525931.1_Splice_Site|INTS4_ENST00000529807.1_Splice_Site	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4						snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGATGAATCCTTTTAAAAAA	0.418000													9	27					0.000151284	0.000166931	1	1	0
FAM83A	84985	broad.mit.edu	37	8	124219712	124219712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124219712G>A	ENST00000518448.1	+	5	3103	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Silent_p.P363P|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	363	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACACCCGCCTCCACCGC	0.766000													4	3					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492414	73492414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73492414C>T	ENST00000314256.7	+	24	3499	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G	KIAA0195_ENST00000579208.1_Silent_p.G686G|KIAA0195_ENST00000375248.5_Silent_p.G1045G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1035					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACCTTTGGCTACGCCACCA	0.622000													16	27					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572000													11	30					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6524151	6524151	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6524151C>T	ENST00000254579.6	+	4	1479	c.915C>T	c.(913-915)taC>taT	p.Y305Y	DNHD1_ENST00000354685.3_Silent_p.Y305Y|DNHD1_ENST00000527990.2_Silent_p.Y305Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	305					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCGGTACTTTAGGTGAT	0.532000													15	15					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42681142	42681142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42681142G>A	ENST00000397163.3	+	5	868	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CAPN3_ENST00000349748.3_Missense_Mutation_p.E217K|CAPN3_ENST00000356316.3_Missense_Mutation_p.E130K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.E217K|CAPN3_ENST00000357568.3_Missense_Mutation_p.E217K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	217	Calpain catalytic.		E -> K (in LGMD2A).|Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGTTCCTACGAAGCTCTGAA	0.507000													39	80					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786520	17786520	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:17786520T>C	ENST00000380607.4	+	4	449	c.329T>C	c.(328-330)tTt>tCt	p.F110S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.F63S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	110	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTGCAACTTTGGTAACAAG	0.468000													5	44					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277798	213277798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213277798C>T	ENST00000366960.3	+	4	415	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.R77*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	89	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATTGTAGGGCGATTTGATGA	0.393000													52	46					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134024203	134024203	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134024203T>G	ENST00000220616.4	+	36	6360	c.6320T>G	c.(6319-6321)aTt>aGt	p.I2107S	TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.I477S|TG_ENST00000377869.1_Missense_Mutation_p.I2050S|TG_ENST00000519543.1_Missense_Mutation_p.I240S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2107					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCATCCATTAGGCACTTT	0.537000													34	265					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223972	27223972	+	Silent	SNP	G	G	A	rs149060380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27223972G>A	ENST00000361720.5	-	2	719	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	232						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGCCGTAGCGCCGGG	0.567000													17	131					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155029698C>T	ENST00000356955.2	+	12	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	395	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632000													13	21					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67018104	67018104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67018104A>G	ENST00000529006.2	+	17	3049	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.D429G|KDM2A_ENST00000308783.5_Missense_Mutation_p.D326G	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						gaggaagaTGACAGTGCAGAG	0.652000													3	31					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447954	11447954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11447954C>T	ENST00000222120.3	-	2	382	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RAB3D_ENST00000589655.1_Missense_Mutation_p.R41Q	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	41					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GTCCGCGTATCGGAACAGGAA	0.537000													114	186					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54845255	54845255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54845255G>A	ENST00000333896.5	+	6	1034	c.649G>A	c.(649-651)Gca>Aca	p.A217T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A230T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	230	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAATCTAACGCACACTACAA	0.438000													15	51					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558792	172558792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172558792C>T	ENST00000367723.3	+	17	3131	c.3007C>T	c.(3007-3009)Caa>Taa	p.Q1003*	SUCO_ENST00000263688.3_Nonsense_Mutation_p.Q851*	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CACAGCAAAGCAAACTTTGAT	0.418000													21	33					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67201093	67201093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67201093G>A	ENST00000264009.8	+	9	1662	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.A233T|HSF4_ENST00000421453.1_Missense_Mutation_p.A233T|HSF4_ENST00000521374.1_Missense_Mutation_p.A233T	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	233					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTACCTGGTGCCCTTCTGCA	0.597000													27	39					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50400277	50400277	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50400277A>G	ENST00000434422.1	-	4	529	c.228T>C	c.(226-228)cgT>cgC	p.R76R	RACGAP1_ENST00000551016.1_Silent_p.R76R|RACGAP1_ENST00000312377.5_Silent_p.R76R|RACGAP1_ENST00000427314.2_Silent_p.R76R|RACGAP1_ENST00000454520.2_Silent_p.R76R|RACGAP1_ENST00000547905.1_Silent_p.R76R			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CCACCTGATTACGTGCATGCT	0.483000													48	58					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960955	73960955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960955G>T	ENST00000373468.1	-	3	4088	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1146Y			Q5QGS0	K2022_HUMAN	KIAA2022	1146					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCTGACAGAATCCTCATC	0.393000													50	67					5.13769e-22	6.77655e-22	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443000													5	76					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16070707	16070707	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16070707C>T	ENST00000375782.1	+	4	527	c.389C>T	c.(388-390)tCg>tTg	p.S130L	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	130	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGTACTCGCTGGGCTGC	0.706000													6	8					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21937987	21937987	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21937987G>A	ENST00000542643.2	-	14	1103	c.801C>T	c.(799-801)caC>caT	p.H267H	RAP1GAP_ENST00000374763.2_Silent_p.H267H|RAP1GAP_ENST00000374765.4_Silent_p.H267H|RAP1GAP_ENST00000290101.4_Silent_p.H331H|RAP1GAP_ENST00000374761.2_Silent_p.H298H	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	267	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTGGACACGTGAAACATGA	0.642000													19	20					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380183	380183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:380183C>T	ENST00000329962.6	+	17	2696	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	899						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTGCAGGCGGGAGTGGAC	0.711000													4	21					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852687	53852687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53852687C>A	ENST00000331251.3	+	1	1697	c.220C>A	c.(220-222)Ctg>Atg	p.L74M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	74					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACCAACCTGTTCATCCT	0.647000													10	12					0.00621372	0.00652201	1	1	0
ACER1	125981	broad.mit.edu	37	19	6312496	6312496	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312496G>T	ENST00000301452.4	-	2	185	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	36						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGATGAAGAAGGGGATATTGG	0.557000													7	55					0.00307968	0.00325696	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6637969	6637969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6637969G>A	ENST00000315579.5	+	26	4223	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.E1097K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1142					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCGACCCCGAGCCTCAGAT	0.592000													4	34					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	495						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418000													55	73					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38618220	38618220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38618220G>A	ENST00000413689.1	-	19	3636	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V	SCN5A_ENST00000451551.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1147V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1148V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1148V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1147V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1148					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGAGCTCAGCGGTGTTGGT	0.622000													10	10					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994999	55994999	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55994999G>A	ENST00000391718.2	+	3	2992	c.2427G>A	c.(2425-2427)caG>caA	p.Q809Q	ZNF628_ENST00000598519.1_Silent_p.Q813Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	809						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCACAGGAAATGAGTG	0.682000													6	61					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35333549	35333549	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35333549T>G	ENST00000374748.1	-	9	972	c.659A>C	c.(658-660)aAa>aCa	p.K220T	CUL2_ENST00000374749.3_Missense_Mutation_p.K220T|CUL2_ENST00000602371.1_Missense_Mutation_p.K163T|CUL2_ENST00000537177.1_Missense_Mutation_p.K239T|CUL2_ENST00000374746.1_Missense_Mutation_p.K220T|CUL2_ENST00000374742.1_Missense_Mutation_p.K220T|CUL2_ENST00000374751.3_Missense_Mutation_p.K220T			Q13617	CUL2_HUMAN	cullin 2	220					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCTTCTTGTTTGTAATACTC	0.284000													22	39					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849365	1849365	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1849365C>A	ENST00000378602.3	-	2	781	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	TMEM52_ENST00000310991.3_Missense_Mutation_p.G196C			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	196						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATTGGGGCCCGACTCCTGG	0.612000													10	109					0.010729	0.0111717	1	1	0
ITGA9	3680	broad.mit.edu	37	3	37544692	37544692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37544692A>G	ENST00000264741.5	+	6	892	c.636A>G	c.(634-636)ccA>ccG	p.P212P	ITGA9_ENST00000422441.1_Silent_p.P212P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	212					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGTGCTCCAGGGTCATTTT	0.488000													5	67					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55351303	55351303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55351303G>A	ENST00000536015.1	-	15	1714	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A532V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	532					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGGCAAACTGCGAGCAAGAA	0.453000													30	28					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48761853	48761853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48761853G>A	ENST00000314191.2	-	55	7195	c.7139C>T	c.(7138-7140)gCt>gTt	p.A2380V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2380V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2381					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGAACACAGCATTCATGAA	0.542000								Non-homologous end-joining					40	96					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116563484	116563484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116563484C>T	ENST00000369503.4	+	4	706	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SLC22A15_ENST00000369502.1_Silent_p.G192G	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	192					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATGTGTGGGCACCGCCTACT	0.498000											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	44					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697595	36697595	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36697595C>T	ENST00000216181.5	-	21	2846	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTGCAGCGTCTCCATCTCCG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135583405G>T	ENST00000513104.1	-	7	1880	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRPC7_ENST00000355180.3_Missense_Mutation_p.P472H|TRPC7_ENST00000426057.2_Missense_Mutation_p.P417H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498000													19	44					1.2644e-06	1.46818e-06	1	1	0
CDH1	999	broad.mit.edu	37	16	68847221	68847221	+	Missense_Mutation	SNP	G	G	T	rs143727462	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847221G>T	ENST00000261769.5	+	9	1334	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	381	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGTACAAGGGTCAGGTGC	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				37	46					1.57351e-24	2.08775e-24	1	1	0
CREB3L2	64764	broad.mit.edu	37	7	137569746	137569746	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137569746G>T	ENST00000330387.6	-	10	1616	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.S422Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	422					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTACCCACGGAGGCTGTGTA	0.532000			T	FUS	fibromyxoid sarcoma								55	57					8.72158e-25	1.15801e-24	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074250	106074250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074250G>T	ENST00000278071.2	-	3	2012	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	ITPRIP_ENST00000358187.2_Missense_Mutation_p.F520L|ITPRIP_ENST00000337478.1_Missense_Mutation_p.F520L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	520						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCATCTCATAGAAGGAGTCCA	0.562000													8	96					5.18039e-06	5.91835e-06	1	1	0
DCAF8	50717	broad.mit.edu	37	1	160188212	160188212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160188212G>A	ENST00000368073.3	-	13	2013	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	DCAF8_ENST00000368074.1_Missense_Mutation_p.R527W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R681W|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.R527W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	527						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGCTCCCGCTTGTTCTTC	0.517000													5	124					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8457657	8457657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8457657C>A	ENST00000447869.1	-	9	1895	c.977G>T	c.(976-978)aGc>aTc	p.S326I	STK33_ENST00000534493.1_Missense_Mutation_p.S285I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.S139I|STK33_ENST00000396673.1_Missense_Mutation_p.S326I|STK33_ENST00000315204.1_Missense_Mutation_p.S326I|STK33_ENST00000396672.1_Missense_Mutation_p.S326I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	326	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTTCTGAGCTTGCCAAAAA	0.323000													10	31					3.86212e-05	4.30401e-05	1	1	0
SLC35G5	83650	broad.mit.edu	37	8	11188669	11188669	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11188669G>A	ENST00000382435.4	+	1	273	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	18						integral to membrane											ACCCATCGCCGCCCTCCGCTC	0.677000													22	29					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144747452	144747452	+	Silent	SNP	G	G	A	rs138951487	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144747452G>A	ENST00000367545.3	+	6	435	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTCATGTCGGACCTGCAGC	0.473000													24	26					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3097548	3097548	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3097548G>A	ENST00000336577.4	+	2	469	c.232_splice	c.e2+1	p.D78_splice	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	78					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGGCCGCATGGGTAGGTGGCC	0.667000													17	27					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253068	50253068	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50253068G>T	ENST00000420502.1	+	0	619							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GAACATCGGAGGTAAGAGCAG	0.657000													10	24					1.58986e-06	1.84011e-06	1	1	0
CAPN10	11132	broad.mit.edu	37	2	241533978	241533978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241533978G>T	ENST00000391984.2	+	6	1045	c.849G>T	c.(847-849)caG>caT	p.Q283H	CAPN10_ENST00000354082.4_Missense_Mutation_p.Q283H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q283H|CAPN10_ENST00000391982.2_Missense_Mutation_p.Q283H	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	283	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTGGAGCCAGGTAGATGCAG	0.607000													65	142					5.00936e-31	6.71602e-31	1	1	0
PRADC1	84279	broad.mit.edu	37	2	73455931	73455931	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73455931G>A	ENST00000258083.2	-	4	505	c.438C>T	c.(436-438)ggC>ggT	p.G146G	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	146	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						ACCCGTCTCGGCCGAGCAGGA	0.587000													12	20					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514426	166514426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166514426C>T	ENST00000314499.7	+	5	680	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R102C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R134C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	102					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAACAGCGTGCGCCAGTACAC	0.552000													12	26					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15303018	15303018	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15303018G>A	ENST00000263388.2	-	4	507	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	144	EGF-like 3.		C -> F (in CADASIL).|C -> S (in CADASIL).|C -> Y (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGGCAGGAGCAGAGGAAGC	0.692000													5	9					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466941	10466941	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466941A>G	ENST00000382483.3	-	4	4890	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1556					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCGCCATCTGGTCCAG	0.657000													4	21					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663813	153663813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153663813C>T	ENST00000369762.2	+	9	1226	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	389					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGCACGCAGCCCTCTCC	0.607000													5	37					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519552	67519552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67519552A>G	ENST00000235345.5	-	1	230	c.145T>C	c.(145-147)Tac>Cac	p.Y49H		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	49					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCACGCCGTAAAAGCCGGCG	0.647000													4	17					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47857181	47857181	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47857181C>T	ENST00000507489.1	-	20	2493		c.e20-1		NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGGAAGCTAAAATAAAA	0.358000													26	47					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18233940	18233940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18233940C>T	ENST00000316694.3	-	10	1234	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	SHMT1_ENST00000539052.1_Missense_Mutation_p.G229D|SHMT1_ENST00000354098.3_Missense_Mutation_p.G328D|SHMT1_ENST00000352886.6_Missense_Mutation_p.G287D	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	367					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACCATCTGTGCCTTTGGAACG	0.483000													17	29					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80382721G>A	ENST00000265080.4	+	9	1406	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	447					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507000													5	43					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4745007	4745007	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4745007G>A	ENST00000586536.1	+	3	553	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.G155R|NUDT16L1_ENST00000586252.1_Intron	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	0	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGACCGAGTCGGAGGCTTCCC	0.632000													14	28					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695147	114695147	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114695147C>T	ENST00000374279.3	+	9	1505	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	352					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATGCAGTCGCCTGGTTCATC	0.393000													37	91					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625988	19625988	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19625988G>A	ENST00000360913.3	-	1	850	c.249C>T	c.(247-249)aaC>aaT	p.N83N	TSSK6_ENST00000585580.3_Silent_p.N83N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	83	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAGTTTCCCGTTGCACACCT	0.637000													23	22					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46932214	46932214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46932214C>T	ENST00000359759.4	+	41	5188	c.5167C>T	c.(5167-5169)Ctg>Ttg	p.L1723L	COL18A1_ENST00000355480.5_Silent_p.L1488L|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1308L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1723	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCTCCTCGCTGCTGGGGGG	0.672000													4	13					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798101	75798101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75798101C>T	ENST00000306726.2	-	7	1395	c.883G>A	c.(883-885)Gtt>Att	p.V295I	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	295						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCATTAACATAGTCCACC	0.468000													22	52					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036796	62036796	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62036796G>T	ENST00000435607.1	-	12	1924	c.1848C>A	c.(1846-1848)gtC>gtA	p.V616V	SCN4A_ENST00000578147.1_Silent_p.V616V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	616					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCTGTGAAGACCTAGGGGG	0.597000													8	10					0.0477658	0.0488009	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683263	100683263	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683263G>T	ENST00000306151.4	+	3	8630	c.8566G>T	c.(8566-8568)Ggt>Tgt	p.G2856C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTATCGTCGT	0.512000													217	152					6.72445e-110	9.10946e-110	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135951	32135951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135951G>A	ENST00000312561.4	+	4	2476	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TTCAGATACTGCAAAAGAAAA	0.428000													5	41					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31552974	31552974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31552974C>A	ENST00000355907.3	+	10	1619	c.457C>A	c.(457-459)Ctc>Atc	p.L153I	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000325366.9_Missense_Mutation_p.L432I			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	432										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAATCTAGACCTCCAAGTGTA	0.403000													23	74					2.41591e-17	3.13163e-17	1	1	0
RAB9A	9367	broad.mit.edu	37	X	13727016	13727016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13727016G>A	ENST00000464506.1	+	3	430	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGATTTGGAAGTGGATGGACA	0.418000													83	143					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753805	48753805	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48753805C>T	ENST00000285238.8	+	23	3314	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1078	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACATCTATGTCGTTGATGAGG	0.537000													68	123					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254597	30254597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30254597C>T	ENST00000361644.2	+	5	1293	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.L186F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	186	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAAAATGGATCTCCCCAACAA	0.468000													28	41					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181472	124181472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124181472C>A	ENST00000360013.3	+	25	4144	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	KALRN_ENST00000460856.1_Missense_Mutation_p.F1330L|KALRN_ENST00000240874.3_Missense_Mutation_p.F1339L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1339	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTACGATTTCCATAACAAGT	0.483000													10	16					1.76689e-08	2.11513e-08	1	1	0
FAT1	2195	broad.mit.edu	37	4	187541117	187541117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187541117C>T	ENST00000441802.2	-	10	6832	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2208	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTTCCGGGCTGTTAGCCTG	0.478000										HNSCC(5;0.00058)			47	91					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881751	153881751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153881751G>A	ENST00000247306.4	-	1	102	c.39C>T	c.(37-39)ggC>ggT	p.G13G	CTAG2_ENST00000369585.3_Silent_p.G13G	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	13	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGCATCGCCCGTCGAAC	0.716000													7	8					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722362	14722362	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14722362C>T	ENST00000380911.3	-	1	353	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	103					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGGAAGGGCTCACTATCTG	0.522000													14	32					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605353	160605353	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160605353A>T	ENST00000259050.3	+	5	1674	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	MARCH7_ENST00000409591.1_Missense_Mutation_p.S480C|MARCH7_ENST00000409175.1_Missense_Mutation_p.S518C|MARCH7_ENST00000539065.1_Missense_Mutation_p.S462C	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	518							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGATGGTAAAAGTGATAAAAC	0.383000													60	98					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32127979	32127979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32127979C>T	ENST00000373672.3	-	58	4153	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1213S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1213	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCAGACCGGCGGGGCCC	0.622000													3	10					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610433	42610433	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610433C>T	ENST00000359486.3	-	1	1015	c.879G>A	c.(877-879)caG>caA	p.Q293Q	TCF20_ENST00000335626.4_Silent_p.Q293Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGATTGAGGCTGATAGCTGT	0.463000													39	82					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159087	152159087	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159087G>A	ENST00000439251.1	-	2	1494	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PNMA5_ENST00000452693.1_Silent_p.S352S|PNMA5_ENST00000361887.5_Silent_p.S352S|PNMA5_ENST00000535214.1_Silent_p.S352S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	352					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTACCGGAGGCCCCCC	0.562000													33	43					0	0	1	0	0
CDC37L1	55664	broad.mit.edu	37	9	4701964	4701964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4701964C>T	ENST00000381854.3	+	6	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I	CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	283	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAACCTATGACAGTTCAGAAT	0.338000													15	40					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75797421	75797421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75797421C>T	ENST00000322507.8	-	65	9362	c.9053G>A	c.(9052-9054)gGt>gAt	p.G3018D	COL12A1_ENST00000416123.2_Missense_Mutation_p.G2942D|COL12A1_ENST00000483888.2_Missense_Mutation_p.G3014D|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1854D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3018	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTCTTGAACCTGTGGACCC	0.532000													23	49					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330708	30330708	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30330708C>A	ENST00000361371.4	-	14	2897	c.2747_splice	c.e14+1	p.S916_splice	LTN1_ENST00000389194.2_Splice_Site_p.S962_splice	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	916							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAAAGGTTACCTGTTGATATC	0.378000													57	88					1.88225e-35	2.53285e-35	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9496443	9496443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9496443C>T	ENST00000281419.3	+	14	1636	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	ASAP2_ENST00000315273.4_Silent_p.G432G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	432	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGATGACGGGCAATGACGTCT	0.502000													11	38					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47858647	47858647	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858647C>A	ENST00000371764.4	+	18	2122	c.2113C>A	c.(2113-2115)Ctc>Atc	p.L705I	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTGAAATCCTCAAGGCGCA	0.602000													5	92					1.23904e-05	1.39987e-05	1	1	0
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126445615G>A	ENST00000311922.3	+	2	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	139	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493000													11	234					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186286670	186286670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186286670G>A	ENST00000367478.3	-	49	7180	c.6884C>T	c.(6883-6885)tCt>tTt	p.S2295F		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2295					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCATCAGATGCTTGAAC	0.438000			T	NTRK1	papillary thyroid								19	36					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045646	7045646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7045646C>T	ENST00000356654.4	+	5	1453	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	ATN1_ENST00000396684.2_Missense_Mutation_p.P406S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	406					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCAGGCATTGCCCAGCTACCC	0.567000													12	11					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731698	92731698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92731698A>C	ENST00000379958.2	-	3	3982	c.3713T>G	c.(3712-3714)aTt>aGt	p.I1238S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1238						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCCTGGAATATCACTACT	0.274000													20	100					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634834	37634834	+	Missense_Mutation	SNP	G	G	A	rs147968535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37634834G>A	ENST00000252011.3	+	12	1090	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	DHX35_ENST00000373323.4_Missense_Mutation_p.G322S|DHX35_ENST00000373325.2_Missense_Mutation_p.G353S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACAATCAGCGGCATTGTGTA	0.458000													133	272					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1328833	1328833	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1328833A>T	ENST00000400809.3	-	5	607	c.602T>A	c.(601-603)gTt>gAt	p.V201D	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Missense_Mutation_p.V201D	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	201	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AAGGTACATAACGATTATCTG	0.473000													27	54					0	0	1	0	0
BTN3A1	0	broad.mit.edu	37	6	26408056	26408056	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26408056C>T	ENST00000414912.2	+	4	745	c.433_splice	c.e4-1	p.D145_splice	BTN3A1_ENST00000476549.2_Silent_p.D197D|BTN3A1_ENST00000425234.2_Silent_p.D197D|BTN3A1_ENST00000289361.6_Silent_p.D197D			O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	197	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTTGCAGACGGAGTGGGCC	0.562000													5	94					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	846797	846797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846797G>A	ENST00000317063.6	+	21	3164	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	CHTF18_ENST00000262315.9_Missense_Mutation_p.R846H|CHTF18_ENST00000455171.2_Missense_Mutation_p.R874H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	846					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTCATCGCCCGCGAGATCGAG	0.657000													4	34					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209779784	209779784	+	Silent	SNP	C	C	T	rs148684307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209779784C>T	ENST00000009105.1	+	6	800	c.555C>T	c.(553-555)taC>taT	p.Y185Y	CAMK1G_ENST00000361322.2_Silent_p.Y185Y			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	185	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCCAGGCTACGTGGGTAAGT	0.488000													37	58					0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223423168	223423168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223423168G>A	ENST00000321276.7	+	5	837	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	251					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.V251M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCTCTTCCCCGTGTGTGTCAT	0.587000													24	56					0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145699694	145699694	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145699694T>C	ENST00000377317.4	-	3	1603	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	342	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GACCCAAACGTCGTAGATGCT	0.667000													3	41					0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114399652	114399652	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114399652A>G	ENST00000409875.1	+	10	965	c.663A>G	c.(661-663)gaA>gaG	p.E221E	RABL2A_ENST00000393165.3_Silent_p.E212E|RABL2A_ENST00000393166.3_Silent_p.E211E|RABL2A_ENST00000376439.3_Silent_p.E148E|RABL2A_ENST00000409842.1_Silent_p.E148E|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393167.3_Silent_p.E211E			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	211					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAGACCAGGAACAGAGCAGCA	0.602000													15	21					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25983700	25983700	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25983700G>T	ENST00000357085.3	+	8	1659	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	TRIM38_ENST00000349458.3_Missense_Mutation_p.A395S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	395	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTATGTAGCACTTACTTC	0.493000													35	62					7.93934e-33	1.06589e-32	1	1	0
B3GNT2	10678	broad.mit.edu	37	2	62450246	62450246	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62450246T>C	ENST00000301998.4	+	2	1143	c.891T>C	c.(889-891)tcT>tcC	p.S297S	B3GNT2_ENST00000405767.1_Silent_p.S297S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	297						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGTTTACTCTGGCCTCTACC	0.532000													10	70					0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40874359	40874359	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40874359G>A	ENST00000539317.1	+	3	225	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	91					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAGGCAAACCGACTTTATGAA	0.438000													42	50					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245184	46245184	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245184C>A	ENST00000334344.6	+	15	3450	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	ARID2_ENST00000444670.1_Missense_Mutation_p.P703H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P944H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1093	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAAGAGCTCCTAGCCCTCAG	0.517000			"""N, S, F"""		hepatocellular carcinoma								6	55					0.27861	0.279982	1	1	0
STARD8	9754	broad.mit.edu	37	X	67939137	67939137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67939137C>T	ENST00000252336.6	+	6	1918	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	STARD8_ENST00000374599.3_Missense_Mutation_p.R596W|STARD8_ENST00000374597.3_Missense_Mutation_p.R516W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGATCAACCGGCAGTTTGC	0.602000													8	26					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	232894770	232894770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232894770C>A	ENST00000325385.7	+	5	622	c.346C>A	c.(346-348)Ctt>Att	p.L116I	DIS3L2_ENST00000409307.1_Missense_Mutation_p.L116I|DIS3L2_ENST00000360410.4_Missense_Mutation_p.L116I|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L116I|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.L116I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	116							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGTGAAACTGCTTCCCGAGGA	0.418000													16	79					3.52763e-06	4.04633e-06	1	1	0
PHF14	9678	broad.mit.edu	37	7	11091395	11091395	+	Silent	SNP	G	G	A	rs150763937	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11091395G>A	ENST00000403050.3	+	14	2921	c.2469G>A	c.(2467-2469)ccG>ccA	p.P823P	PHF14_ENST00000445996.2_Silent_p.P538P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	823							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAGATTCCGATAAGAAACA	0.393000													16	30					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105503269G>A	ENST00000276654.5	-	7	2320	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R719C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	738					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478000													21	46					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453000													11	42					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60075626	60075626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60075626C>T	ENST00000355131.3	+	8	861	c.638C>T	c.(637-639)tCt>tTt	p.S213F	MS4A4A_ENST00000337908.4_Missense_Mutation_p.S232F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S179F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	232						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GAAACAGCATCTCCCACACCA	0.448000													36	66					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151694680	151694680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151694680G>A	ENST00000325144.4	-	2	233	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	31	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTATACATCGCCGATTGCAA	0.408000													37	58					0	0	1	0	0
CHRM5	0	broad.mit.edu	37	15	34354990	34354990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34354990C>T	ENST00000383263.5	+	3	742	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CHRM5_ENST00000557872.1_Silent_p.R24R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	24					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTTTGGAACGCCACAGGTTGT	0.473000											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	43					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54321078	54321078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54321078G>A	ENST00000354646.2	-	8	2039	c.1601C>T	c.(1600-1602)aCt>aTt	p.T534I	WNK3_ENST00000375159.2_Missense_Mutation_p.T534I|WNK3_ENST00000375169.3_Missense_Mutation_p.T534I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	534					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAGCCCCAGTTTGCTGAGC	0.473000													12	19					0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081608	44081608	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081608A>G	ENST00000372014.3	-	3	541	c.410T>C	c.(409-411)gTg>gCg	p.V137A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	137					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AATGGCCAGCACCTTGGAATA	0.557000													17	19					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956235	102956235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102956235C>T	ENST00000379263.3	-	15	1862	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A485T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	538					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGCGTTGCGTTGTCTGCT	0.373000													47	50					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72314627	72314627	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72314627G>T	ENST00000550746.1	+	16	1831	c.1767_splice	c.e16+1	p.K589_splice	TBC1D15_ENST00000393309.3_Splice_Site_p.K343_splice|TBC1D15_ENST00000319106.8_Splice_Site_p.K580_splice|TBC1D15_ENST00000485960.2_Splice_Site_p.K572_splice	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	589							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATACTTAAGGTAGTTATTC	0.333000													7	100					0.0293803	0.0301098	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33590519	33590519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33590519T>C	ENST00000404816.2	+	31	5013	c.4660T>C	c.(4660-4662)Tat>Cat	p.Y1554H	LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1173H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1175H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1555H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y452H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1229H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1228H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1186H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1554	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCTGTCTGTATGGAGAGGC	0.542000													8	62					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274725	178274725	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178274725A>G	ENST00000264596.3	+	8	1421	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	435					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCCCTCCAAGAAGACAACAAA	0.358000								Base excision repair (BER), DNA glycosylases					6	62					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760564	70760564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70760564G>A	ENST00000258111.4	+	1	509	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	17					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAGGACAAGAGCATCCGGCTC	0.672000													9	17					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38048423	38048423	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38048423T>C	ENST00000373062.3	-	7	849	c.751A>G	c.(751-753)Att>Gtt	p.I251V		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	251					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGTACAAAAATGAGGTGTTTC	0.383000													15	122					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088322	147088322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147088322G>A	ENST00000370467.3	+	3	572	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	166	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCATCATCGGGGACCACGA	0.368000													14	129					0	0	1	0	0
PCDHB3	0	broad.mit.edu	37	5	140481938	140481938	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140481938T>C	ENST00000231130.2	+	1	1705	c.1705T>C	c.(1705-1707)Tcc>Ccc	p.S569P		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAACGGCTCCGCGCCCTG	0.716000													5	51					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29508800	29508800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508800G>A	ENST00000358273.4	+	7	1110	c.727G>A	c.(727-729)Gct>Act	p.A243T	NF1_ENST00000431387.4_Missense_Mutation_p.A243T|NF1_ENST00000356175.3_Missense_Mutation_p.A243T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	243					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGATATGGCTGGTAAGGA	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	48					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122598	36122598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122598G>A	ENST00000249044.2	+	3	483	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	161					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAGCACCTGTGACAGCAGGAG	0.542000													29	57					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029259	41029259	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41029259G>C	ENST00000244669.2	+	2	368	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	108					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACCATCCTGCCAGCCTTCG	0.577000													44	71					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682994	20682994	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20682994A>C	ENST00000404938.2	+	6	1154	c.502A>C	c.(502-504)Aca>Cca	p.T168P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	354	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACTCGCATGACAGAGTAAGA	0.383000													8	57					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577217	89577217	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89577217T>C	ENST00000407637.1	+	9	1266	c.1100T>C	c.(1099-1101)gTa>gCa	p.V367A	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron			Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATTTAAAGGTATTTTAAGTG	0.383000													11	20					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138684	103138684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103138684G>A	ENST00000428762.1	-	54	8842	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2895C|RELN_ENST00000424685.2_Missense_Mutation_p.R2895C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTCAAAGCGTTCCTTCAGG	0.378000													9	77					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951996	119951996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951996G>A	ENST00000307142.4	+	4	2262	c.2066G>A	c.(2065-2067)aGg>aAg	p.R689K	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	689						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCAAAAGGAGAAGCACG	0.468000													13	22					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73029112	73029112	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73029112A>C	ENST00000268057.4	+	15	1299	c.1258A>C	c.(1258-1260)Atg>Ctg	p.M420L	BBS4_ENST00000542334.1_Missense_Mutation_p.M248L|BBS4_ENST00000395205.2_Missense_Mutation_p.M428L|BBS4_ENST00000539603.1_Missense_Mutation_p.M408L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	420	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GATGGTGGAGATGGCTCAGAA	0.498000									Bardet-Biedl syndrome				9	67					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112461820	112461820	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112461820G>A	ENST00000297145.4	-	5	1362	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	399										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTAATATGGGGTCTTCTAGCT	0.393000													89	80					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478633	85478633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85478633C>A	ENST00000394573.1	+	15	1667	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	SLC28A1_ENST00000537624.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L489M|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L489M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	489					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGAGCTGCTGGGGATCAA	0.597000													26	50					4.72057e-08	5.61655e-08	1	1	0
MCM10	55388	broad.mit.edu	37	10	13214455	13214455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13214455C>T	ENST00000378694.1	+	3	504	c.429C>T	c.(427-429)agC>agT	p.S143S	MCM10_ENST00000484800.2_Silent_p.S143S|MCM10_ENST00000378714.3_Silent_p.S143S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	143					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACAGCAAGCCCAGCCCGTC	0.373000													8	101					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288549	144288549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144288549G>A	ENST00000549981.1	-	9	840	c.117C>T	c.(115-117)atC>atT	p.I39I	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Silent_p.I156I			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	156					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCTCTTGGATTATTATAA	0.443000													104	71					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64533621	64533621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64533621G>A	ENST00000377390.3	-	13	1926	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.T530M|SF1_ENST00000433274.2_Missense_Mutation_p.T504M|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	530	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGTAGTCGTCGTATCTGG	0.677000													14	20					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389913	129389913	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389913G>A	ENST00000393238.3	-	4	1111	c.771C>T	c.(769-771)gaC>gaT	p.D257D	TMCC1_ENST00000329333.5_Silent_p.D78D|TMCC1_ENST00000426664.2_Silent_p.D143D|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	257						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCAACGTTGTCGTCCCGGG	0.507000													69	89					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825273	43825273	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43825273G>A	ENST00000372462.1	+	2	497	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CDC20_ENST00000310955.6_Silent_p.E98E			Q12834	CDC20_HUMAN	cell division cycle 20	98					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAAGGAGAACCAGCCTG	0.562000													11	85					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:40554769G>A	ENST00000297737.6	-	4	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	115						nucleus	DNA binding|zinc ion binding	p.T115I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507000													38	76					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179440075	179440075	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179440075G>A	ENST00000522208.2	-	3	697	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RNF130_ENST00000261947.4_Missense_Mutation_p.R227C|RNF130_ENST00000521389.1_Missense_Mutation_p.R227C			Q86XS8	GOLI_HUMAN	ring finger protein 130	227					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGTCGCGTGCATTTGTG	0.413000													61	107					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23487629	23487629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23487629C>T	ENST00000263116.2	+	1	117	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RAB36_ENST00000341989.4_Missense_Mutation_p.T26M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.T26K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ACGACGTCGACGATTCGTGTA	0.677000													19	41					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	447371	447371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:447371G>T	ENST00000256509.2	+	28	4294	c.3652G>T	c.(3652-3654)Gca>Tca	p.A1218S	CHL1_ENST00000397491.2_Missense_Mutation_p.A1202S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1202					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGTTCTACAGCAACTTTTCC	0.438000													30	33					1.22384e-17	1.58917e-17	1	1	0
PRB4	5545	broad.mit.edu	37	12	11463274	11463274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11463274C>A	ENST00000279575.1	-	1	92	c.59G>T	c.(58-60)aGt>aTt	p.S20I	PRB4_ENST00000445719.2_Missense_Mutation_p.S20I|PRB4_ENST00000535904.1_Missense_Mutation_p.S20I	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	20						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTACCTTCACTTGAACTCTC	0.527000										HNSCC(22;0.051)			39	103					4.44401e-20	5.82479e-20	1	1	0
NHP2L1	4809	broad.mit.edu	37	22	42071031	42071031	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42071031G>T	ENST00000401959.1	-	4	609	c.293C>A	c.(292-294)cCt>cAt	p.P98H	NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98H|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98H|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102H	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCGATGACAGGCCTGGAGAC	0.537000													7	62					2.7689e-08	3.31013e-08	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133799568	133799568	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133799568A>C	ENST00000321016.8	-	12	1859	c.1629T>G	c.(1627-1629)gtT>gtG	p.V543V	IGSF9B_ENST00000533871.2_Silent_p.V543V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	543	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCGTACCAAACTGAGAATG	0.622000													18	28					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43573029	43573029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43573029G>T	ENST00000372236.4	+	9	1342	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	POLH_ENST00000535400.1_Missense_Mutation_p.E287D|POLH_ENST00000372226.1_Missense_Mutation_p.E349D	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	349					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGAACTAGAGGAGAGACTGA	0.373000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				8	15					5.18039e-06	5.91835e-06	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98239054	98239054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98239054C>T	ENST00000430669.2	-	11	1976	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	PTCH1_ENST00000331920.6_Missense_Mutation_p.R530K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R379K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R529K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R379K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R379K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R464K			Q13635	PTC1_HUMAN	patched 1	530	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGGGATTCTTTTATTCTG	0.418000													5	14					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788249	3788249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788249C>T	ENST00000440314.2	-	6	829	c.356G>A	c.(355-357)aGc>aAc	p.S119N	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.S119N|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S119N	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	119	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTTATTCTGGCTGAAGAAGAA	0.537000													25	35					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543541	178543541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178543541G>A	ENST00000432997.1	+	3	574	c.222G>A	c.(220-222)atG>atA	p.M74I	KCNMB2_ENST00000452583.1_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M74I	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	74					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCATACATGCAGAGGTAAT	0.532000													10	151					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145011406	145011406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145011406C>T	ENST00000322810.4	-	4	849	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PLEC_ENST00000354589.3_Missense_Mutation_p.R90Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R90Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R68Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R76Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R94Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R117Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R117Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R58Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCTTCTCCCGGGGCTGTGG	0.677000													6	16					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126132729G>A	ENST00000373631.3	+	7	1398	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_ENST00000359999.3_Missense_Mutation_p.R466H|CRB2_ENST00000373629.2_Missense_Mutation_p.R134H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612000													16	22					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718975	50718975	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50718975A>T	ENST00000449103.1	-	25	4258	c.4118T>A	c.(4117-4119)tTc>tAc	p.F1373Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1373Y			O15031	PLXB2_HUMAN	plexin B2	1373					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTCCAGGAAGAGCGTGTG	0.672000													10	59					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67068588	67068588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67068588C>T	ENST00000447274.2	+	11	2115	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R314C|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R401C|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R51C|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R314C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	314										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCACTCTGCGCCTTCCACC	0.622000													14	23					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033320	95033320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95033320A>T	ENST00000557004.1	+	3	1084	c.663A>T	c.(661-663)aaA>aaT	p.K221N	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K221N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K221N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	221					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGTGGGAGAAACCATTCATTT	0.522000													5	53					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98209391	98209391	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98209391A>G	ENST00000284049.3	-	25	3626	c.3477T>C	c.(3475-3477)gaT>gaC	p.D1159D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCTGACTTATCAACTAACT	0.348000													29	43					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843729	100843729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100843729G>T	ENST00000223114.4	-	2	343	c.177C>A	c.(175-177)taC>taA	p.Y59*	MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.Y59*|MOGAT3_ENST00000440203.2_Nonsense_Mutation_p.Y59*	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	59					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACACCAAGTAAAAAACAG	0.557000													6	11					3.59834e-05	4.01776e-05	1	1	0
DAZAP1	26528	broad.mit.edu	37	19	1422373	1422373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1422373C>T	ENST00000336761.6	+	6	646	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DAZAP1_ENST00000233078.4_Silent_p.D147D|DAZAP1_ENST00000586579.1_3'UTR	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	147	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTATGACGCCGAGAAGC	0.612000													39	72					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33246731	33246731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33246731C>T	ENST00000373477.4	-	10	1966	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGCAGGGCCTTTGGCCAT	0.512000													34	56					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808666	144808666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808666C>T	ENST00000388913.3	-	5	3090	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	989					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGCGGCACTGGGAAGCCA	0.697000													5	10					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398158	125398158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125398158G>A	ENST00000536769.1	-	1	1736	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBC_ENST00000339647.5_Missense_Mutation_p.R54C|UBC_ENST00000546120.1_Missense_Mutation_p.R54C|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000538617.1_Missense_Mutation_p.R54C			P0CG48	UBC_HUMAN	ubiquitin C	54	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACAGGGTGCGCCCATCTTCC	0.522000													9	186					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41105049	41105049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41105049C>A	ENST00000355341.4	+	7	1480	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L317M|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L152M|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L304M	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	327							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACGGATTCTGGCCCTGGC	0.622000													16	45					3.41278e-10	4.19267e-10	1	1	0
PMS2CL	0	broad.mit.edu	37	7	6777542	6777542	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6777542G>A	ENST00000486256.1	+	0	1669					NR_002217.1																						TCAAGCAGCCGAAGATGAACT	0.299000													19	71					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47645223	47645223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47645223G>A	ENST00000273857.4	-	15	2007	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	CORIN_ENST00000508498.1_Missense_Mutation_p.R531C|CORIN_ENST00000504584.1_Missense_Mutation_p.R633C|CORIN_ENST00000502252.1_Missense_Mutation_p.R603C|CORIN_ENST00000505909.1_Missense_Mutation_p.R633C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	670	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACAGGTCACGTGACACACAC	0.453000													6	64					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306028	306028	+	Missense_Mutation	SNP	C	C	T	rs151111165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:306028C>T	ENST00000428720.1	-	11	1839	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	366					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582000													7	42					0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4332028	4332028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4332028C>T	ENST00000600324.1	-	4	412	c.345G>A	c.(343-345)acG>acA	p.T115T	STAP2_ENST00000594605.1_Silent_p.T115T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	115	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACCACCGTTAAGATGA	0.453000													13	35					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139222212	139222212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139222212G>T	ENST00000423192.1	+	20	2703	c.2542G>T	c.(2542-2544)Gtg>Ttg	p.V848L	ECT2L_ENST00000541398.1_Missense_Mutation_p.V702L|ECT2L_ENST00000367682.2_Missense_Mutation_p.V848L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	848					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CATTGCATCAGTGGCCCTTCA	0.408000			"""N, Splice, Mis"""		ETP ALL								7	86					3.09899e-07	3.63227e-07	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2007344	2007344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2007344G>A	ENST00000262113.4	+	6	772	c.631G>A	c.(631-633)Gta>Ata	p.V211I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	211	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACTATGGCGTACACACACT	0.502000													19	19					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309177	50309177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309177C>T	ENST00000354293.5	+	21	2800	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	AP2A1_ENST00000359032.5_Silent_p.D900D	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	900					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCCCATGGACGCAGAAGTTA	0.592000													4	62					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933260	43933260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43933260C>A	ENST00000537548.1	-	4	495	c.251G>T	c.(250-252)aGc>aTc	p.S84I	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S84I|MATN4_ENST00000372754.1_Missense_Mutation_p.S84I|MATN4_ENST00000353917.5_Missense_Mutation_p.S84I|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000360607.5_Missense_Mutation_p.S84I|MATN4_ENST00000372756.1_Missense_Mutation_p.S84I			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGGAAGACGCTCTGCACTTG	0.652000													8	26					1.12685e-05	1.27857e-05	1	1	0
CUBN	8029	broad.mit.edu	37	10	16942837	16942837	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16942837C>T	ENST00000377833.4	-	53	8262	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2733	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATATCAAAGTCACTAAATGTG	0.403000													6	15					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950953	198950953	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198950953G>A	ENST00000428675.1	+	2	3110	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M806I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	904					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGAAAATATGCAGGTAGGAG	0.353000													4	29					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207246	49207246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207246A>G	ENST00000340334.7	-	7	1124	c.756T>C	c.(754-756)ccT>ccC	p.P252P	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.P267P|FOLH1_ENST00000256999.2_Silent_p.P267P|FOLH1_ENST00000533034.1_Silent_p.P252P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	267					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGGTGTGAGAGGGTCTCCTG	0.423000													9	40					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38709079	38709079	+	RNA	SNP	C	C	T	rs111340107		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537000													11	17					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175431873	175431873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175431873C>T	ENST00000392547.2	-	7	1480	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D461N(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443000													14	34					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76912054	76912054	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76912054G>A	ENST00000285871.4	+	15	2227	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC146_ENST00000431197.1_Silent_p.L414L|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	700										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAATTACTGCCAGCCAAGA	0.433000													8	63					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4877927C>T	ENST00000298375.7	+	4	456	c.385C>T	c.(385-387)Cga>Tga	p.R129*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527000													22	21					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998752	112998752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112998752G>A	ENST00000271277.6	+	6	863	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	213						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGAGCCGGGTGAGTAAA	0.517000													12	52					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670067	7670067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7670067C>T	ENST00000299492.4	+	19	2222	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L469F|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L454F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L500F	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	612	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGAAGAAGCTTGTTTTAGC	0.428000													78	106					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363485	22363485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22363485G>A	ENST00000397121.2	-	3	1351	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCGATTAAAAGCTTTCCCGCA	0.413000													10	71					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066603G>A	ENST00000397910.4	-	3	21046	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(2)|p.S2581F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGTCAAGGAATATGTTGA	0.448000													66	121					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	419608	419608	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:419608C>A	ENST00000256509.2	+	16	2501	c.1859C>A	c.(1858-1860)aCt>aAt	p.T620N	CHL1_ENST00000397491.2_Missense_Mutation_p.T604N|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	604	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCGATATAACTCAAGTAACT	0.373000													4	73					0.00198382	0.00210581	1	1	0
C2orf78	388960	broad.mit.edu	37	2	74041293	74041293	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74041293T>A	ENST00000409561.1	+	2	908	c.787T>A	c.(787-789)Tct>Act	p.S263T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	263										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACCACCAGTCTCTACTTCTGG	0.463000													15	102					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129800970	129800970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129800970C>T	ENST00000358825.5	-	11	1702	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	PRDM10_ENST00000304538.6_Missense_Mutation_p.V405M|PRDM10_ENST00000360871.3_Missense_Mutation_p.V491M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V405M|PRDM10_ENST00000423662.2_Missense_Mutation_p.V405M|PRDM10_ENST00000528746.1_Missense_Mutation_p.V465M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGGGCACCACGCTCTCTTCA	0.617000													27	43					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101724636	101724636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724636C>T	ENST00000318607.5	-	7	2054	c.926G>A	c.(925-927)cGt>cAt	p.R309H	PABPC1_ENST00000519004.1_Missense_Mutation_p.R264H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R277H|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	309	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCCGGAGACGTTCATCATC	0.318000													86	162					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70056658	70056658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70056658C>A	ENST00000358769.2	-	3	371	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PBLD_ENST00000432941.1_Missense_Mutation_p.D57Y|PBLD_ENST00000336578.1_Missense_Mutation_p.D24Y|PBLD_ENST00000309049.4_Missense_Mutation_p.D57Y|PBLD_ENST00000277795.4_Missense_Mutation_p.D57Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	57					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAAAGTTGTCTGTCGGGTGC	0.413000													8	137					5.4927e-09	6.6252e-09	1	1	0
ZNF512B	57473	broad.mit.edu	37	20	62591493	62591493	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62591493C>A	ENST00000450537.1	-	17	2488		c.e17-1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAACCAGTTCTGGGGAGAGA	0.542000													13	21					0.000151284	0.000166931	1	1	0
FAM114A1	92689	broad.mit.edu	37	4	38930892	38930892	+	Missense_Mutation	SNP	C	C	T	rs148278995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38930892C>T	ENST00000358869.2	+	10	1275	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R160C	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	367			R -> H (in dbSNP:rs2306923).			cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTTGCTCGCATGCTTAC	0.413000													36	33					0	0	1	0	0
C11orf45	219833	broad.mit.edu	37	11	128774420	128774420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128774420C>T	ENST00000310799.3	-	2	235	c.42G>A	c.(40-42)acG>acA	p.T14T	KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.T14T|KCNJ5_ENST00000338350.4_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	14						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582000													37	30					0	0	1	0	0
IER3	8870	broad.mit.edu	37	6	30711721	30711721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30711721C>T	ENST00000259874.5	-	2	498	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	IER3_ENST00000376377.2_3'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	155					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AGTTAGAAGGCGGCCGGGTGT	0.592000													14	32					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205240997	205240997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205240997G>A	ENST00000358024.3	+	5	2264	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	TMCC2_ENST00000329800.7_Silent_p.Q385Q|TMCC2_ENST00000330675.7_Silent_p.Q400Q|TMCC2_ENST00000545499.1_Silent_p.Q547Q|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	625						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAGCAACAGCAGCAGGTGG	0.662000													33	28					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64708114	64708114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64708114C>A	ENST00000536065.1	-	10	1528	c.224G>T	c.(223-225)aGg>aTg	p.R75M	C11orf85_ENST00000432175.1_Missense_Mutation_p.G160W|C11orf85_ENST00000301896.5_Missense_Mutation_p.G160W|C11orf85_ENST00000530444.1_Missense_Mutation_p.R103M			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	41										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTCTTTCCCTATTCTGTTA	0.408000													6	80					0.00198382	0.00210581	1	1	0
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Missense_Mutation	SNP	C	C	A	rs138699394	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49819840C>A	ENST00000335847.4	-	3	170	c.69G>T	c.(67-69)aaG>aaT	p.K23N	CRISP1_ENST00000507853.1_Missense_Mutation_p.K23N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K23N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K23N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K23N|CRISP1_ENST00000536021.1_Missense_Mutation_p.K23N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333000													25	52					2.79863e-10	3.44159e-10	1	1	0
ALDH3A1	218	broad.mit.edu	37	17	19645413	19645413	+	Missense_Mutation	SNP	G	G	A	rs139173953	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645413G>A	ENST00000457500.2	-	4	922	c.593C>T	c.(592-594)aCg>aTg	p.T198M	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.T198M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T198M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T198M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T125M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	198					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCAGCAGCCGTCATGATGAT	0.607000													13	27					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78804490	78804490	+	Missense_Mutation	SNP	G	G	A	rs138407676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78804490G>A	ENST00000315567.8	+	3	567	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	80							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTATATGGAAGGCGAACCTGA	0.328000													19	31					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130769276	130769276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130769276C>A	ENST00000509018.1	-	25	4026	c.3821G>T	c.(3820-3822)aGc>aTc	p.S1274I	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1287I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1282I|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1324I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1274	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTCACGATGCTGGACCGTGA	0.483000													15	29					1.3612e-06	1.57881e-06	1	1	0
SMC2	10592	broad.mit.edu	37	9	106880543	106880543	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106880543T>G	ENST00000286398.7	+	15	2171	c.1883T>G	c.(1882-1884)tTt>tGt	p.F628C	SMC2_ENST00000374793.3_Missense_Mutation_p.F628C|SMC2_ENST00000303219.8_Missense_Mutation_p.F628C|SMC2_ENST00000374787.3_Missense_Mutation_p.F628C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	628	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACAACATTTGTTTGTGAC	0.418000													9	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650454	179650454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179650454C>A	ENST00000589042.1	-	15	2610	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	TTN_ENST00000460472.2_Missense_Mutation_p.D750Y|TTN_ENST00000360870.5_Missense_Mutation_p.D796Y|TTN_ENST00000342992.6_Missense_Mutation_p.D796Y|TTN_ENST00000359218.5_Missense_Mutation_p.D750Y|TTN_ENST00000342175.6_Missense_Mutation_p.D750Y|TTN_ENST00000591111.1_Missense_Mutation_p.D796Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D750N(3)|p.D796N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTTAGATCTGTAGTTTTC	0.418000													7	63					0.00307968	0.00325696	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103335385	103335385	+	Missense_Mutation	SNP	C	C	T	rs34240435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103335385C>T	ENST00000258436.5	-	6	962	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	307					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGGCCAGGACAAAGTTACTG	0.577000													5	38					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3427532C>T	ENST00000301365.4	-	13	1834	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587000													53	94					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853776	51853776	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51853776G>T	ENST00000453097.2	+	8	1114	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SLC4A8_ENST00000514353.3_Missense_Mutation_p.E246D|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E326D|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E246D|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E246D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	299					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGGCCGAGGCCTCCAATG	0.458000													20	169					2.39187e-15	3.06793e-15	1	1	0
DPH2	1802	broad.mit.edu	37	1	44437630	44437630	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44437630T>C	ENST00000255108.3	+	4	1228	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	DPH2_ENST00000412950.2_Silent_p.G217G|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	352					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTTTCTGGTAGCTTCTTCC	0.607000													8	64					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500708	142500708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142500708A>G	ENST00000378004.3	+	18	2049	c.1694A>G	c.(1693-1695)gAa>gGa	p.E565G	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E565G	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	565	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAACCACGAAAAGGTAATA	0.423000													7	34					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082252	77082252	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77082252A>G	ENST00000579016.1	+	14	2053	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	685						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGAGATGCCCATGTTCCTGGG	0.617000													22	35					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643317	3643317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3643317C>T	ENST00000335312.3	-	13	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A525T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	525					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAGTCGTGGCAATGGAGGCT	0.652000													32	48					0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562000													41	9					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948953	83948953	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948953C>A	ENST00000262430.4	+	5	1360	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACCGGCTCCTGCGGCCTGA	0.632000													9	66					7.48243e-07	8.70085e-07	1	1	0
ALG6	29929	broad.mit.edu	37	1	63872050	63872050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63872050G>T	ENST00000371108.4	+	6	714	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E137*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	137					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGCTTAAAAGAAATCTCAAC	0.328000													8	69					0.00621372	0.00652201	1	1	0
UGP2	7360	broad.mit.edu	37	2	64114548	64114548	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64114548G>T	ENST00000337130.5	+	8	1560	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	UGP2_ENST00000445915.2_Missense_Mutation_p.G371C|UGP2_ENST00000394417.2_Missense_Mutation_p.G351C|UGP2_ENST00000467648.2_Missense_Mutation_p.G351C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	362					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGATGGAGGCCTGAATGT	0.413000													8	84					1.06961e-07	1.26574e-07	1	1	0
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000350437.4_Silent_p.G747G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607000										Multiple Myeloma(12;0.14)			4	33					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33655082	33655082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33655082A>G	ENST00000374316.5	+	46	7215	c.6155A>G	c.(6154-6156)aAc>aGc	p.N2052S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N2052S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2052					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGGGCCATAACATCTATATC	0.622000													7	14					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105291136	105291136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105291136C>T	ENST00000262903.4	-	5	640	c.364G>A	c.(364-366)Gct>Act	p.A122T	RP11-809N15.2_ENST00000422930.1_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.A122T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGACATCAGCGCTATATTCT	0.279000													32	98					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140615604	140615604	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140615604C>T	ENST00000526308.1	+	0	1667					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGCTGCCGCCCCAGGACCCG	0.657000													38	70					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74280984	74280984	+	Missense_Mutation	SNP	G	G	A	rs114483410	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74280984G>A	ENST00000316900.5	-	4	674	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STOML1_ENST00000561656.1_Missense_Mutation_p.R97W|STOML1_ENST00000564777.1_Missense_Mutation_p.R134W|STOML1_ENST00000541638.1_Missense_Mutation_p.R142W|STOML1_ENST00000316911.6_Missense_Mutation_p.R134W|STOML1_ENST00000359750.4_Missense_Mutation_p.R184W	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	184						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGATCTCCCGCAGCGGCCTC	0.617000													25	31					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13246221	13246221	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13246221C>T	ENST00000378694.1	+	17	2430	c.2355C>T	c.(2353-2355)tgC>tgT	p.C785C	MCM10_ENST00000484800.2_Silent_p.C786C|MCM10_ENST00000378714.3_Silent_p.C785C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	786					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCAGTGCGCCTATACCC	0.522000													9	22					0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148385	1148385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1148385G>A	ENST00000379236.3	-	3	361	c.357C>T	c.(355-357)taC>taT	p.Y119Y	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	119					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAGGCTTGTAGCTGTCCA	0.697000													6	15					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689802	49689802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689802G>A	ENST00000296452.4	+	5	2927	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	938					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCTCAACAGCACGGGAAGT	0.622000													26	32					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969400	235969400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969400C>A	ENST00000389794.3	-	6	3210	c.3036G>T	c.(3034-3036)aaG>aaT	p.K1012N	LYST_ENST00000389793.2_Missense_Mutation_p.K1012N|LYST_ENST00000536965.1_Missense_Mutation_p.K1012N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1012					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATCTCCCTCCTTTTTTCCTT	0.333000													45	71					2.24893e-16	2.90283e-16	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48760145	48760145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48760145C>A	ENST00000557021.1	-	2	295	c.135G>T	c.(133-135)caG>caT	p.Q45H	TMEM189_ENST00000371652.4_Missense_Mutation_p.Q45H|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.Q45H|TMEM189_ENST00000371650.5_Missense_Mutation_p.Q45H	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGCACCACTCCTGGAGGCGCT	0.587000													10	17					5.16669e-11	6.41398e-11	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184615145	184615145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184615145C>T	ENST00000334690.6	+	22	2664	c.2462C>T	c.(2461-2463)gCt>gTt	p.A821V	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A821V|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A427V	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	821																	TCCTACCCGGCTTTACTCACT	0.403000													36	88					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410757	63410757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410757G>A	ENST00000330258.3	-	2	2682	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ACCATGGGAGGCAGCTCAGGG	0.517000													13	19					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201887581	201887581	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201887581A>G	ENST00000418596.2	-	4	313	c.126T>C	c.(124-126)taT>taC	p.Y42Y	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	42						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAATAACTTTATAGAGGGCTG	0.333000													19	50					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216230269	216230269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216230269G>A	ENST00000354785.4	-	43	7472	c.7103C>T	c.(7102-7104)aCa>aTa	p.T2368I	FN1_ENST00000359671.1_Missense_Mutation_p.T2277I|FN1_ENST00000443816.1_Missense_Mutation_p.T2156I|FN1_ENST00000432072.2_Missense_Mutation_p.T2158I|FN1_ENST00000421182.1_Missense_Mutation_p.T2131I|FN1_ENST00000356005.4_Missense_Mutation_p.T2187I|FN1_ENST00000336916.4_Missense_Mutation_p.T2246I|FN1_ENST00000446046.1_Missense_Mutation_p.T2221I|FN1_ENST00000323926.6_Missense_Mutation_p.T2337I|FN1_ENST00000345488.5_Missense_Mutation_p.T2075I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.T2102I|FN1_ENST00000357867.4_Missense_Mutation_p.T2067I			P02751	FINC_HUMAN	fibronectin 1	2277					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCAAGACATGTGCAGCTCAT	0.458000													7	163					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117776418	117776418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117776418C>T	ENST00000528626.1	-	9	1284	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439E	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAAGGTCTGTCCATGCATGGG	0.522000													4	9					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100479713	100479713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100479713C>A	ENST00000395996.1	+	24	3628	c.3517C>A	c.(3517-3519)Ctt>Att	p.L1173I	VPS13B_ENST00000358544.2_Missense_Mutation_p.L1173I|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1173I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1173					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTGACACTTTGCCTAGT	0.443000													63	152					7.05995e-25	9.37592e-25	1	1	0
PYHIN1	149628	broad.mit.edu	37	1	158943460	158943460	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158943460A>G	ENST00000368140.1	+	8	1628	c.1383A>G	c.(1381-1383)gcA>gcG	p.A461A	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Silent_p.A452A|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	461					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCAGGAGCACAGTCATCGC	0.428000													7	74					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253954	10253954	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10253954T>C	ENST00000418404.3	-	11	1226	c.1063A>G	c.(1063-1065)Acg>Gcg	p.T355A	MYH13_ENST00000570743.1_Missense_Mutation_p.T355A|MYH13_ENST00000252172.4_Missense_Mutation_p.T355A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	355	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACGGCTCCCGTCAGTTTGTAG	0.512000													33	48					0	0	1	0	0
RP11-193H5.1	0	broad.mit.edu	37	1	238090658	238090658	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238090658G>A	ENST00000450451.1	+	0	2164					NR_027247.2																						CCCACATGCCGTCCTGCATCT	0.632000													5	13					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483071	32483071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483071C>T	ENST00000359872.6	-	1	1242	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	161					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGGTCATGGCCCACACGGTGC	0.557000													7	100					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133854807	133854807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854807G>A	ENST00000395386.2	+	19	2734	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	PHF20L1_ENST00000395390.2_Missense_Mutation_p.R787Q|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R199Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	812							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCGGGAAGCGAAAAGACCAA	0.348000													17	28					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098585	78098585	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78098585T>A	ENST00000370801.3	-	5	930	c.455A>T	c.(454-456)gAc>gTc	p.D152V	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGCATCATTGTCCACTACTGT	0.388000													10	252					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	55005088	55005088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55005088C>T	ENST00000216420.7	+	6	1118	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	329					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGACAAACCGAAGACTCTT	0.383000													17	20					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87043000	87043000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87043000C>T	ENST00000265723.4	-	22	2827	c.2716G>A	c.(2716-2718)Gtt>Att	p.V906I	ABCB4_ENST00000545634.1_Missense_Mutation_p.V906I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V906I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V906I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V906I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	906	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAGACACAACTGTCCTAATA	0.343000													42	65					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406254	39406254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406254C>T	ENST00000334109.2	+	1	316	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	94	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGAGCAGCTCCTGTGCAC	0.622000													38	65					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78730683	78730683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78730683G>A	ENST00000258886.8	+	1	153	c.4G>A	c.(4-6)Gac>Aac	p.D2N	IREB2_ENST00000560440.1_Missense_Mutation_p.D2N	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCGGCGATGGACGCCCCAAA	0.657000													4	3					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45542167	45542167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45542167G>T	ENST00000291576.7	+	14	1873	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	582						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTCCATTGAGGGCAGGCATG	0.587000													26	29					1.33986e-20	1.75989e-20	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086202	92086202	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92086202T>G	ENST00000298047.6	+	1	941	c.924T>G	c.(922-924)ccT>ccG	p.P308P	FAT3_ENST00000541502.1_Silent_p.P308P|FAT3_ENST00000525166.1_Silent_p.P158P|FAT3_ENST00000409404.2_Silent_p.P308P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	308	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGGGATCCTTTAGATCAGT	0.453000										TCGA Ovarian(4;0.039)			4	44					0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282769	136282769	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282769A>C	ENST00000371942.3	-	1	395	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.F66V	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	66						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTGAGAAAAGTCTTCTGGT	0.587000													14	111					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066235	242066235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242066235G>A	ENST00000403638.3	-	10	2186	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	PASK_ENST00000405260.1_Silent_p.L699L|PASK_ENST00000539818.1_Silent_p.L483L|PASK_ENST00000544142.1_Silent_p.L513L|PASK_ENST00000358649.4_Silent_p.L699L|PASK_ENST00000234040.4_Silent_p.L699L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	699					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTCCCAGATCGCAGGAC	0.667000													33	54					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347546	70347546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70347546C>T	ENST00000558939.1	-	15	2806	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	TLE3_ENST00000442299.2_Missense_Mutation_p.A469T|TLE3_ENST00000558379.1_Missense_Mutation_p.A472T|TLE3_ENST00000451782.2_Missense_Mutation_p.A474T|TLE3_ENST00000560589.1_Missense_Mutation_p.A421T|TLE3_ENST00000559048.1_Missense_Mutation_p.A477T|TLE3_ENST00000559929.1_Missense_Mutation_p.A487T|TLE3_ENST00000557997.1_Missense_Mutation_p.A469T|TLE3_ENST00000317509.8_Missense_Mutation_p.A465T|TLE3_ENST00000539550.1_Missense_Mutation_p.A404T|TLE3_ENST00000558201.1_Missense_Mutation_p.A483T|TLE3_ENST00000560939.1_Missense_Mutation_p.A479T|TLE3_ENST00000440567.3_Missense_Mutation_p.A467T|TLE3_ENST00000559191.1_Missense_Mutation_p.A58T|TLE3_ENST00000557907.1_Missense_Mutation_p.A469T			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGCCGGGCGTGCCTCGGG	0.642000													5	43					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4409612	4409612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4409612G>A	ENST00000251166.4	-	22	2264	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CORO7_ENST00000539968.1_Missense_Mutation_p.R487C|CORO7_ENST00000537233.2_Missense_Mutation_p.R689C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R707C|CORO7_ENST00000574025.1_Missense_Mutation_p.R622C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCAGCTGGCGCTCACTTTGG	0.652000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35930816	35930816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35930816C>T	ENST00000339208.6	-	10	1407	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S	SYNRG_ENST00000345615.4_Missense_Mutation_p.G345S|SYNRG_ENST00000585472.1_Missense_Mutation_p.G344S|SYNRG_ENST00000502449.2_Missense_Mutation_p.G345S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.G345S|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.G423S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	423					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTAATGCCCATGACTGGC	0.547000													17	20					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41925141	41925141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41925141G>A	ENST00000269980.2	+	5	954	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000595085.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G174S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	196					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGTCCACTACGGCTGCAAGGA	0.572000													11	22					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47486268	47486268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47486268G>A	ENST00000247153.3	-	7	1085	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	CFP_ENST00000396992.3_Missense_Mutation_p.R282W|CFP_ENST00000377005.2_Missense_Mutation_p.R282W	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	282	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGCACGTCCGTTGTTCCATG	0.667000													4	13					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134805	45134805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45134805G>A	ENST00000296129.1	-	6	1725	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	531	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCAGACCCTGCCTGGAGGCC	0.507000													9	67					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17277379	17277379	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277379A>T	ENST00000544301.1	+	7	1633	c.1220A>T	c.(1219-1221)gAg>gTg	p.E407V	VIM_ENST00000224237.5_Missense_Mutation_p.E407V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAAGGCGAGGAGAGCAGG	0.498000													7	38					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18956162C>T	ENST00000302797.3	-	1	394	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557000													35	79					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228961	84228961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84228961G>A	ENST00000268624.3	+	6	1132	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G265S	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	265	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCTGGGCACCGGCAGCAGCTG	0.682000													5	7					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602434	138602434	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138602434C>T	ENST00000440172.1	-	2	1986	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	KIAA1549_ENST00000422774.1_Silent_p.A646A|KIAA1549_ENST00000242365.4_Silent_p.A596A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	646	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGACAGAGACGCAGGTGCTT	0.498000			O	BRAF	pilocytic astrocytoma								11	4					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21946860	21946860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21946860C>T	ENST00000319481.3	-	4	484	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R93Q|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	93					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCACCTTTCGTCCTGTAAA	0.418000													17	47					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606695	43606695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43606695G>A	ENST00000355710.3	+	7	1536	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	RET_ENST00000340058.5_Missense_Mutation_p.G435D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	435					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATTCAGTGGCATCAACGTC	0.582000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				28	51					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115889304	115889304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115889304C>T	ENST00000358204.4	+	3	559	c.344C>T	c.(343-345)cCt>cTt	p.P115L	TES_ENST00000537767.1_Intron|TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.P106L	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	115	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGTGGGCTCCTCCTGTCCAG	0.393000													81	56					0	0	1	0	0
KNCN	148930	broad.mit.edu	37	1	47016788	47016788	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47016788A>G	ENST00000481882.2	-	1	411	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	KNCN_ENST00000396314.3_Missense_Mutation_p.S34P|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	34						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCAGCCTTGGATACGGAGATG	0.627000													5	49					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712574	1712574	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712574C>A	ENST00000313871.3	+	2	415	c.219C>A	c.(217-219)acC>acA	p.T73T	AKAP17A_ENST00000381261.3_Silent_p.T73T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	73					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCAAGAGCACCATGGACTTCA	0.577000													17	191					1.99824e-07	2.35189e-07	1	1	0
CDCP1	64866	broad.mit.edu	37	3	45160089	45160089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45160089C>T	ENST00000296129.1	-	2	241	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	CDCP1_ENST00000425231.2_Missense_Mutation_p.R36Q|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	36						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGCTTTCTCGTGGCAGAGC	0.458000													16	38					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207140951	207140951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207140951C>T	ENST00000324852.4	-	2	559	c.85G>A	c.(85-87)Gct>Act	p.A29T	FCAMR_ENST00000450945.2_Missense_Mutation_p.A29T|FCAMR_ENST00000400962.3_Missense_Mutation_p.A29T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	328						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						aaagtgccagcaatgagcctg	0.443000													9	173					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33799704	33799704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33799704G>A	ENST00000257118.5	-	9	1798	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	PHC2_ENST00000431992.1_Missense_Mutation_p.A553V|PHC2_ENST00000419414.2_Missense_Mutation_p.A583V|PHC2_ENST00000373416.1_Missense_Mutation_p.A47V|PHC2_ENST00000373422.3_Missense_Mutation_p.A188V|PHC2_ENST00000373418.3_Missense_Mutation_p.A47V|PHC2_ENST00000485928.1_Intron	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	582					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAGGCTCCGCCCCCTCCTG	0.438000													25	30					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772785	113772785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772785C>A	ENST00000375581.3	+	9	899	c.864C>A	c.(862-864)gtC>gtA	p.V288V	F7_ENST00000346342.3_Silent_p.V266V|F7_ENST00000541084.1_Silent_p.V219V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	288	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGCGCAGGTCATCATCCCCA	0.677000													20	38					2.21704e-12	2.7869e-12	1	1	0
TSEN2	80746	broad.mit.edu	37	3	12545146	12545146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12545146C>T	ENST00000444864.1	+	5	1081	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	TSEN2_ENST00000402228.3_Missense_Mutation_p.R232C|TSEN2_ENST00000314571.7_Missense_Mutation_p.R232C|TSEN2_ENST00000383797.5_Missense_Mutation_p.R232C|TSEN2_ENST00000284995.6_Missense_Mutation_p.R232C|TSEN2_ENST00000415684.1_Missense_Mutation_p.R232C|TSEN2_ENST00000454502.2_Splice_Site_p.R173_splice	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	232					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CATCCTCCAGCGTGGCCTTCA	0.582000													9	7					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605908	13605908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13605908C>T	ENST00000040738.5	-	10	2751	c.2616G>A	c.(2614-2616)tcG>tcA	p.S872S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	872	Lys-rich.						DNA binding										ACTTATCTTCCGAATAACTTT	0.378000													27	43					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66466163	66466163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66466163C>T	ENST00000533211.1	-	20	4292	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1321T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1321T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1321					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCATGAATGCCTGGTGCTTC	0.597000													26	50					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35091816	35091816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35091816G>A	ENST00000378617.3	-	7	2462	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	690					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTACCATAGCGGCGAAGCCAC	0.602000													13	15					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797203	42797203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797203G>A	ENST00000572681.2	+	16	6354	c.6286G>A	c.(6286-6288)Gtg>Atg	p.V2096M	CIC_ENST00000160740.3_Missense_Mutation_p.V1187M|CIC_ENST00000575354.2_Missense_Mutation_p.V1189M			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1189L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672000			"""Mis, F, S"""		oligodendroglioma								9	11					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94998763	94998763	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94998763G>A	ENST00000334047.7	-	4	637	c.474C>T	c.(472-474)acC>acT	p.T158T	F3_ENST00000370207.4_Silent_p.T158T|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	158					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CATCTTCTACGGTCACATTCA	0.398000													5	104					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76018573	76018573	+	Missense_Mutation	SNP	C	C	T	rs147152005	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76018573C>T	ENST00000393004.2	-	6	3697	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1060H|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1159H			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1159										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATAGGAATGCGGGTGGGTGT	0.507000													5	66					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21848376C>T	ENST00000434536.1	+	18	2116	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	XPO7_ENST00000252512.9_Missense_Mutation_p.R663W|XPO7_ENST00000433566.4_Missense_Mutation_p.R664W			Q9UIA9	XPO7_HUMAN	exportin 7	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418000													7	232					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160483581	160483581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160483581G>T	ENST00000356956.1	+	26	3748	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1200					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAGCATTTCAGCTTCAGGATG	0.473000													9	30					9.70103e-10	1.18443e-09	1	1	0
PAM	5066	broad.mit.edu	37	5	102296885	102296885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102296885C>T	ENST00000438793.3	+	13	1584	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PAM_ENST00000455264.2_Missense_Mutation_p.P372S|PAM_ENST00000348126.2_Missense_Mutation_p.P372S|PAM_ENST00000274392.9_Missense_Mutation_p.P275S|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.P372S|PAM_ENST00000304400.7_Missense_Mutation_p.P372S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	372	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGATAAGATTCCTTTACTACA	0.313000													13	43					0	0	1	0	0
PDE1B	0	broad.mit.edu	37	12	54966424	54966424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54966424G>A	ENST00000243052.3	+	7	1070	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.E192K|PDE1B_ENST00000538346.1_Missense_Mutation_p.E171K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	212	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGATGCCTTGGAGACAGGCTA	0.498000													257	394					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229623232	229623232	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229623232T>C	ENST00000261396.3	-	10	1414	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	NUP133_ENST00000537506.1_Silent_p.K425K|NUP133_ENST00000366679.1_Silent_p.K441K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	441					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAGACAATTTTCTCCTGGG	0.413000													13	116					0	0	1	0	0
TSPAN31	0	broad.mit.edu	37	12	58139594	58139594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58139594C>A	ENST00000547992.1	+	2	262	c.130C>A	c.(130-132)Cac>Aac	p.H44N	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000257910.3_Missense_Mutation_p.H44N|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	44					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTCCAGCATCCACATCATCGG	0.537000													7	111					0.0293803	0.0301098	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7476095	7476095	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7476095C>A	ENST00000399429.3	-	23	1932		c.e23-1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTATCTCCCTGTACATTTC	0.398000													19	65					7.45023e-12	9.32672e-12	1	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316023	19316023	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19316023C>T	ENST00000454498.2	-	5	1778	c.765G>A	c.(763-765)aaG>aaA	p.K255K	CSGALNACT1_ENST00000544602.1_Silent_p.K255K|CSGALNACT1_ENST00000332246.6_Silent_p.K255K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.K255K|CSGALNACT1_ENST00000522854.1_Silent_p.K255K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	255					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATGTTGAGCTTTTCATTTT	0.448000													31	262					0	0	1	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30370615	30370615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30370615C>T	ENST00000409939.3	-	7	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	507	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCGCAGGTGGCGATGCGCCAG	0.652000													8	3					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202053	248202053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248202053G>A	ENST00000366479.2	+	1	580	c.484G>A	c.(484-486)Gca>Aca	p.A162T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACAGTATATGCACTCTGTAT	0.428000													16	180					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967788	76967788	+	Missense_Mutation	SNP	G	G	A	rs150793355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76967788G>A	ENST00000262776.3	-	6	1936	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	543					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGGGAATCGCAGCCTTCCA	0.622000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	28					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25636123	25636123	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25636123A>G	ENST00000330688.4	+	7	1525	c.1104A>G	c.(1102-1104)ccA>ccG	p.P368P	RARB_ENST00000437042.2_Silent_p.P256P|RARB_ENST00000458646.1_Silent_p.P256P|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Silent_p.P375P	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	375	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACATGTTTCCAAAGATCTTAA	0.418000													3	88					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736358	8736358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8736358C>T	ENST00000311434.9	-	9	889	c.650G>A	c.(649-651)aGc>aAc	p.S217N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	217					platelet activation	cytosol											GCGGCGAGGGCTGGCCTGTTG	0.701000													4	8					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5803400	5803400	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5803400G>A	ENST00000328090.5	+	19	7765	c.7140G>A	c.(7138-7140)caG>caA	p.Q2380Q		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2380																	TGCAAATTCAGCATATTGATG	0.383000													13	100					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822899	178822899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178822899C>T	ENST00000234816.2	-	4	1294	c.847G>A	c.(847-849)Gca>Aca	p.A283T	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.A283T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	283	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCTTCTTTTGCTTGCTGACAG	0.343000													26	74					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54062936	54062936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54062936C>T	ENST00000338662.5	-	4	1560	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160T|ATP5G2_ENST00000549164.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000550241.1_5'UTR	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	103					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTTACCTGGCATAACCAATG	0.498000													12	45					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887200	179887200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887200G>T	ENST00000435319.3	+	10	1769	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K542N	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	526						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TAGGCCTAAAGGAAGTTGAAG	0.408000													42	46					4.17593e-13	5.28688e-13	1	1	0
SRP72	6731	broad.mit.edu	37	4	57340537	57340537	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57340537A>G	ENST00000342756.5	+	5	1311	c.590A>G	c.(589-591)aAa>aGa	p.K197R	SRP72_ENST00000510663.1_Missense_Mutation_p.K197R|SRP72_ENST00000504757.1_Missense_Mutation_p.K197R	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	197					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCCATGAAAATCCTACAA	0.428000													30	46					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62365511	62365511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62365511C>A	ENST00000278823.2	-	6	864	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	159	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTAGGCGATCTGGGATCTCA	0.478000													9	212					0.000673444	0.000724755	1	1	0
CEP170B	283638	broad.mit.edu	37	14	105353630	105353630	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105353630G>A	ENST00000453495.1	+	12	3285	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	CEP170B_ENST00000418279.1_Silent_p.T948T|CEP170B_ENST00000556508.1_Silent_p.T948T|CEP170B_ENST00000414716.3_Silent_p.T1018T					centrosomal protein 170B																		TTGGCCCGACGGACATGGGCC	0.697000													3	13					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643957	64643957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64643957C>T	ENST00000371079.1	+	9	2608	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	ROR1_ENST00000545203.1_Missense_Mutation_p.R196W	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	745	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATTCACGTCCGGCTTCGGTC	0.522000													23	24					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154381	2154381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2154381G>A	ENST00000416167.2	-	4	1545	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IGF2_ENST00000418738.2_Missense_Mutation_p.R127C|IGF2_ENST00000337883.6_Missense_Mutation_p.R127C|IGF2_ENST00000381406.4_Missense_Mutation_p.R130C|IGF2_ENST00000381389.1_Missense_Mutation_p.R127C|IGF2_ENST00000381395.1_Missense_Mutation_p.R127C|IGF2_ENST00000381392.1_Missense_Mutation_p.R130C|IGF2_ENST00000300632.5_Missense_Mutation_p.R127C|IGF2_ENST00000434045.2_Missense_Mutation_p.R183C			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGCCCCTGCGCAGGCGCTGG	0.662000													11	14					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332393	1332393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1332393C>T	ENST00000303400.4	+	8	1146	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MAEA_ENST00000510794.1_Silent_p.V360V|MAEA_ENST00000505177.2_Silent_p.V399V|MAEA_ENST00000505839.1_Silent_p.V313V|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Silent_p.V293V|MAEA_ENST00000452175.2_Silent_p.V282V|MAEA_ENST00000264750.6_Silent_p.V320V	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	361					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ACGGCTACGTCTACGGCTACA	0.662000													3	9					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783234	5783234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5783234C>T	ENST00000419421.2	-	3	1128	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	340										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						ATCTCAGGCACGCTGTAGTCA	0.647000													28	45					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16702672	16702672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16702672C>T	ENST00000513610.1	-	24	2990	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T	MYO10_ENST00000505695.1_Missense_Mutation_p.A185T|MYO10_ENST00000515803.1_Missense_Mutation_p.A185T|MYO10_ENST00000274203.9_Missense_Mutation_p.A203T|MYO10_ENST00000427430.2_Missense_Mutation_p.A203T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	846					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGAGCTCGGCTTCTCTTCGC	0.423000													3	7					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932200	79932200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932200C>A	ENST00000373275.4	-	41	5533	c.5317G>T	c.(5317-5319)Gat>Tat	p.D1773Y		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1773										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAGAGGATCCTCAGTGGAC	0.393000													25	32					3.28513e-13	4.1605e-13	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18368817	18368817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18368817C>A	ENST00000441493.2	-	16	2420	c.2067_splice	c.e16-1	p.E690_splice	MICAL3_ENST00000585038.1_Splice_Site_p.E690_splice|MICAL3_ENST00000383094.3_Splice_Site_p.E690_splice|MICAL3_ENST00000207726.7_Splice_Site_p.E690_splice|MICAL3_ENST00000414725.2_Splice_Site_p.E690_splice|MICAL3_ENST00000400561.2_Splice_Site_p.E690_splice|MICAL3_ENST00000444520.1_Splice_Site_p.E690_splice|MICAL3_ENST00000429452.1_Splice_Site_p.E690_splice	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	690	Poly-Glu.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGCTTCCTCCTGGTCAATG	0.612000													11	107					0.00829132	0.00869385	1	1	0
FN3KRP	79672	broad.mit.edu	37	17	80684939	80684939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80684939G>A	ENST00000269373.6	+	6	895	c.822G>A	c.(820-822)gaG>gaA	p.E274E	FN3KRP_ENST00000535965.1_Silent_p.E224E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	274							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGATTCGAGAAGCGCCTTC	0.507000													34	45					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44176130	44176130	+	Missense_Mutation	SNP	A	A	G	rs147301051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44176130A>G	ENST00000431837.1	+	8	898	c.590A>G	c.(589-591)gAa>gGa	p.E197G	IRAK4_ENST00000448290.2_Missense_Mutation_p.E321G|IRAK4_ENST00000440781.2_Missense_Mutation_p.E197G|IRAK4_ENST00000551736.1_Missense_Mutation_p.E321G	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	321	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTACTGGATGAAGCTTTTACT	0.383000													4	41					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1424620	1424620	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1424620G>A	ENST00000308647.7	+	13	1419	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	435							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACACTGAACGCCTTCCTGTA	0.597000													24	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553506	179553506	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179553506C>T	ENST00000589042.1	-	126	32320		c.e126-1		TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTCAGCTTTAAGAAAG	0.368000													22	17					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978460	6978460	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6978460G>A	ENST00000254868.4	-	9	1192	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CLEC10A_ENST00000416562.2_Silent_p.D261D|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Silent_p.D264D	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	288	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCCACCTGCCGTCTGGATGGA	0.627000													20	30					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086151	24086151	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24086151T>C	ENST00000341976.3	-	2	1637	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACTCGCAGGTGTAGGGCTTC	0.577000													7	86					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450908	85450908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450908C>A	ENST00000393217.2	+	8	2398	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	779										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACATGACACCCGCTTTGGATA	0.328000													58	100					5.5144e-22	7.27086e-22	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103548440	103548440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103548440C>A	ENST00000358392.2	-	2	512	c.195G>T	c.(193-195)aaG>aaT	p.K65N	COL11A1_ENST00000512756.1_Missense_Mutation_p.K65N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K65N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K65N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTAGAATTCTTTCTGTTTG	0.358000													33	140					2.52637e-11	3.14721e-11	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675272	100675272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675272C>A	ENST00000306151.4	+	3	639	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	192	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTACTCAGGCAAGT	0.453000													7	240					0.248553	0.25002	1	1	0
BRD2	6046	broad.mit.edu	37	6	32947864	32947864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32947864C>T	ENST00000395289.2	+	12	3807	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	BRD2_ENST00000374831.4_Missense_Mutation_p.R701C|BRD2_ENST00000449085.2_Missense_Mutation_p.R654C|BRD2_ENST00000395287.1_Missense_Mutation_p.R736C|BRD2_ENST00000443797.2_Missense_Mutation_p.R581C|BRD2_ENST00000374825.4_Missense_Mutation_p.R701C			P25440	BRD2_HUMAN	bromodomain containing 2	701	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAGCTTGAGCGCTATGTCCT	0.458000													17	33					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67411875	67411875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67411875C>A	ENST00000357692.2	+	5	385	c.128C>A	c.(127-129)gCt>gAt	p.A43D	MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Missense_Mutation_p.A43D|MIER1_ENST00000371018.3_Missense_Mutation_p.A43D|MIER1_ENST00000355356.3_Missense_Mutation_p.A26D|MIER1_ENST00000371014.1_Missense_Mutation_p.A79D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.A43D|MIER1_ENST00000401041.1_Missense_Mutation_p.A79D|MIER1_ENST00000401042.3_Missense_Mutation_p.A26D	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	50					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATCCATCAGCTGACATGCTG	0.353000													8	99					0.00621372	0.00652201	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37210117	37210117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37210117G>A	ENST00000585696.1	+	3	1628	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF567_ENST00000588311.1_Missense_Mutation_p.G133E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.G164E|ZNF567_ENST00000360729.4_Missense_Mutation_p.G133E|ZNF567_ENST00000392163.2_Missense_Mutation_p.G133E			Q8N184	ZN567_HUMAN	zinc finger protein 567	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGTATAATGGATATGGGAAA	0.353000													23	31					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72285979	72285979	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72285979C>A	ENST00000438125.1	-	0	315							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGATGATCATCTGGATCATAT	0.333000													4	77					0.00909568	0.00947522	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38810662	38810662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38810662C>T	ENST00000359357.3	+	33	4431	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.H1393Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.H1610Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCCTTAAACATAAGGATGA	0.358000													7	60					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507779	39507779	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39507779C>A	ENST00000287152.7	-	13	1739	c.1645_splice	c.e13+1	p.G549_splice	KIF6_ENST00000373215.3_Splice_Site_p.G549_splice|KIF6_ENST00000373213.4_Splice_Site_p.G388_splice|KIF6_ENST00000373216.3_Splice_Site_p.G549_splice|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	549					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCAACTGACCTATTTTCTTG	0.418000													14	182					1.49906e-05	1.69169e-05	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2812622	2812622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812622G>A	ENST00000301740.8	+	11	2642	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	698	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGACACCAAGACGAGGAAGA	0.552000													12	71					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148880648	148880648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148880648C>T	ENST00000296051.2	+	13	2604	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.R657*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	822						cytoplasm		p.R822*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CACACCATTGCGAACATCGGA	0.373000									Hermansky-Pudlak syndrome				26	49					0	0	1	0	0
RP11-14N7.2	0	broad.mit.edu	37	1	148932911	148932911	+	RNA	SNP	G	G	A	rs2531445	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148932911G>A	ENST00000539543.1	+	0	167					NR_027355.1																						CCAAGACTCCGTCCTGCAAGG	0.612000													8	113					0	0	1	0	0
IGLV3-16	0	broad.mit.edu	37	22	23090165	23090165	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23090165A>G	ENST00000390311.2	+	0	142																											TCCCTAGGACAGATGGCCAGG	0.522000													35	49					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054133	50054133	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50054133G>A	ENST00000376042.1	+	6	3262	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	CCNB3_ENST00000276014.7_Silent_p.K988K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	988					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAACCAGCAAGTCCAGCATTG	0.478000													39	53					0	0	1	0	0
UQCRH	7388	broad.mit.edu	37	1	46774775	46774775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46774775G>T	ENST00000311672.5	+	2	193	c.57G>T	c.(55-57)gaG>gaT	p.E19D	UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	19	Poly-Glu.				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTGTAGGAGGAAGAGGAAG	0.358000													22	30					2.89027e-11	3.59474e-11	1	1	0
SAA2	6289	broad.mit.edu	37	11	18267006	18267006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267006G>A	ENST00000526900.1	-	4	470	c.287C>T	c.(286-288)gCc>gTc	p.A96V	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.A96V|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.A96V					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGCCTGATCGGCCAGCGAGTC	0.557000													5	36					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115738	145115738	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145115738T>C	ENST00000453618.1	+	0	824							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTGACAGCATTGGATTCAAAG	0.388000													12	167					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948828	83948828	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948828C>A	ENST00000262430.4	+	5	1235	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	406					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGCCTGGTACCTGTATGGAGA	0.647000													31	52					2.46105e-21	3.23713e-21	1	1	0
OOEP	441161	broad.mit.edu	37	6	74104640	74104640	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104640C>T	ENST00000370363.1	-	0	176				DDX43_ENST00000370336.4_Silent_p.H4H|DDX43_ENST00000539829.1_Silent_p.H4H			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm		p.H4H(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTCCCACCACGGAGGAGCTC	0.632000													7	52					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458000													44	48					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293842	152293842	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293842T>C	ENST00000243326.4	+	12	1943	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	RIF1_ENST00000430328.2_Missense_Mutation_p.V487A|RIF1_ENST00000453091.2_Missense_Mutation_p.V487A|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.V487A|RIF1_ENST00000428287.2_Missense_Mutation_p.V487A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	487					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATAGCTTTGTTGCAGTTGGA	0.388000													4	78					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3704480	3704480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3704480G>A	ENST00000324932.7	-	30	5288	c.4868C>T	c.(4867-4869)gCt>gTt	p.A1623V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1549V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1549V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1640					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTGCTCAGCCTTAAATAA	0.527000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								17	31					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083767	1083767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1083767G>A	ENST00000441003.2	+	18	2326	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	MUC2_ENST00000359061.5_Missense_Mutation_p.D767N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	767						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GATCCACATGGACTGCAGCAA	0.701000													5	22					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21061301	21061301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21061301G>T	ENST00000261383.3	-	30	4276	c.4277C>A	c.(4276-4278)gCt>gAt	p.A1426D	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1426D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1426	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCTCTGGAGCACCCCCAAG	0.507000													36	65					1.59361e-14	2.0342e-14	1	1	0
KIFC3	3801	broad.mit.edu	37	16	57799471	57799471	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57799471A>C	ENST00000379655.4	-	11	1669	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	KIFC3_ENST00000543930.1_Missense_Mutation_p.F332C|KIFC3_ENST00000541240.1_Missense_Mutation_p.F493C|KIFC3_ENST00000562903.1_Missense_Mutation_p.F332C|KIFC3_ENST00000539578.1_Missense_Mutation_p.F413C|KIFC3_ENST00000465878.2_Missense_Mutation_p.F332C|KIFC3_ENST00000445690.2_Missense_Mutation_p.F471C|KIFC3_ENST00000421376.2_Missense_Mutation_p.F332C|KIFC3_ENST00000540079.2_Missense_Mutation_p.F369C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	471	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCGGCATCGAAAGTCACAGC	0.592000													7	2					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632000													52	84					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505592	155505592	+	Missense_Mutation	SNP	G	G	A	rs150073296	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155505592G>A	ENST00000302053.3	-	6	2363	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	762	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542000													30	58					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619487	206619487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206619487G>A	ENST00000414007.1	+	14	1521	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	647	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGGGCCCTCGCTAATGTCAG	0.532000													39	76					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28331480	28331480	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28331480A>G	ENST00000377255.3	+	6	942	c.645A>G	c.(643-645)aaA>aaG	p.K215K	ZKSCAN3_ENST00000252211.2_Silent_p.K215K|ZKSCAN3_ENST00000341464.5_Silent_p.K67K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	215	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGTTGTTGAAAGTGGAAGATG	0.522000													3	69					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135027	11135027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11135027C>T	ENST00000358026.2	+	21	3278	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	SMARCA4_ENST00000590574.1_Silent_p.C998C|SMARCA4_ENST00000413806.3_Silent_p.C998C|SMARCA4_ENST00000344626.4_Silent_p.C998C|SMARCA4_ENST00000541122.2_Silent_p.C998C|SMARCA4_ENST00000589677.1_Silent_p.C998C|SMARCA4_ENST00000429416.3_Silent_p.C998C|SMARCA4_ENST00000444061.3_Silent_p.C998C|SMARCA4_ENST00000450717.3_Silent_p.C998C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	998					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGTGCGACATGTCTG	0.622000			"""F, N, Mis"""		NSCLC								7	25					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139158255C>T	ENST00000395297.1	-	15	3657	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448000										HNSCC(54;0.14)			28	49					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6961979	6961979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6961979T>C	ENST00000389658.3	-	52	7510	c.7417A>G	c.(7417-7419)Aat>Gat	p.N2473D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2473	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATAGGAATTTCTGAGTAAG	0.403000													30	93					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688593	26688593	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26688593G>A	ENST00000272371.2	-	38	4872	c.4746C>T	c.(4744-4746)aaC>aaT	p.N1582N	OTOF_ENST00000339598.3_Silent_p.N815N|OTOF_ENST00000402415.3_Silent_p.N892N|OTOF_ENST00000403946.3_Silent_p.N1582N|OTOF_ENST00000338581.6_Silent_p.N815N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1582					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGAAGCGGTTCTCCAGGT	0.617000													16	34					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907678	53907678	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53907678A>C	ENST00000396328.1	-	15	2964	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	WDR72_ENST00000557913.1_Missense_Mutation_p.F906V|WDR72_ENST00000559418.1_Missense_Mutation_p.F919V|WDR72_ENST00000360509.5_Missense_Mutation_p.F909V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	909										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAACTAAAAATAGTCTGCTC	0.333000													20	24					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64596583	64596583	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64596583A>G	ENST00000357395.3	+	76	14402	c.3258A>G	c.(3256-3258)ttA>ttG	p.L1086L	SYNE2_ENST00000555002.1_Silent_p.L1335L|SYNE2_ENST00000394768.2_Silent_p.L1086L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L4701L|SYNE2_ENST00000554584.1_Silent_p.L4618L|SYNE2_ENST00000358025.3_Silent_p.L4701L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4701					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTCATTTACCTTATGCTT	0.458000													24	36					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616290	73616290	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73616290C>T	ENST00000261917.3	-	8	3137	c.2143_splice	c.e8-1	p.G715_splice		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	715					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTCTTCTTGCCTGGGCCACA	0.562000													15	33					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125303	71125303	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125303G>T	ENST00000299213.8	-	3	634	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	188					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATCATAGACCAGGAGCA	0.557000													8	44					1.12685e-05	1.27857e-05	1	1	0
TRIM13	10206	broad.mit.edu	37	13	50586765	50586765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586765G>A	ENST00000378182.3	+	2	1427	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.R233Q|TRIM13_ENST00000298772.5_Missense_Mutation_p.R233Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	230					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGGAGCAACGGATGGCCTTT	0.403000													21	50					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76427474G>A	ENST00000357063.3	+	29	6027	c.4767G>A	c.(4765-4767)ccG>ccA	p.P1589P	LMO7_ENST00000526202.1_Silent_p.P1181P|LMO7_ENST00000377534.3_Silent_p.P1589P|LMO7_ENST00000321797.8_Silent_p.P1304P|LMO7_ENST00000465261.2_Silent_p.P1304P|LMO7_ENST00000341547.4_Silent_p.P1255P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577000													10	15					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272517	237272517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237272517G>A	ENST00000409907.3	-	15	2049	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	IQCA1_ENST00000431676.2_Missense_Mutation_p.T551M|IQCA1_ENST00000309507.5_Missense_Mutation_p.T589M			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	592							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTGGCTCCCGTTTCGGTGCA	0.517000													6	99					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187521066	187521066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187521066G>A	ENST00000441802.2	-	22	12298	c.12089C>T	c.(12088-12090)cCg>cTg	p.P4030L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4030	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGTGACGGATTGCAAAC	0.512000										HNSCC(5;0.00058)			13	28					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912162	53912162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912162A>C	ENST00000396408.3	+	4	1471	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAT	0.388000													25	39					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138872160	138872160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138872160G>T	ENST00000464848.1	+	17	1508	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	TTC26_ENST00000495038.1_Missense_Mutation_p.Q345H|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Missense_Mutation_p.Q369H|TTC26_ENST00000343187.4_Missense_Mutation_p.Q445H			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	476							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGATGGGCCAGTTTTACTATT	0.433000													51	139					1.4374e-25	1.9118e-25	1	1	0
MAP2	4133	broad.mit.edu	37	2	210558266	210558266	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210558266A>C	ENST00000360351.4	+	7	1878	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K454Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	458					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTGTGCCAAAAGAGAGTAA	0.438000													7	50					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101530377	101530377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101530377C>T	ENST00000353234.4	-	11	2175	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	ANKS6_ENST00000540940.1_Missense_Mutation_p.A515T|ANKS6_ENST00000375018.1_Missense_Mutation_p.A710T|ANKS6_ENST00000375019.2_Missense_Mutation_p.A409T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	710	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAACAGGAGCGCTGCCACCT	0.602000													4	4					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205983694	205983694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:205983694C>T	ENST00000406610.2	+	7	937	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PARD3B_ENST00000351153.1_Missense_Mutation_p.R244W|PARD3B_ENST00000462231.1_Missense_Mutation_p.R244W|PARD3B_ENST00000349953.3_Missense_Mutation_p.R244W|PARD3B_ENST00000358768.2_Missense_Mutation_p.R244W	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	244	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGTCCAAGCGGGAGGGACT	0.333000													27	45					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671921	30671921	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671921T>C	ENST00000376406.3	-	10	5686	c.5039A>G	c.(5038-5040)cAg>cGg	p.Q1680R	MDC1_ENST00000376405.2_Missense_Mutation_p.Q1416R|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1680					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTTTGCTCTGACCACCCTG	0.542000								Other conserved DNA damage response genes					37	53					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10195195	10195195	+	Silent	SNP	G	G	A	rs146689339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10195195G>A	ENST00000377157.3	+	15	2501	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	UBE4B_ENST00000343090.6_Silent_p.T725T|UBE4B_ENST00000253251.8_Silent_p.T596T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	725					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443000													3	27					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330279	62330279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62330279C>T	ENST00000371158.2	+	20	2923	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	INADL_ENST00000316485.6_Missense_Mutation_p.P937S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	937					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGGCACAGCCGTATGGCTA	0.483000													29	38					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666150	30666150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666150G>A	ENST00000542965.2	+	7	1315	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PRR14_ENST00000300835.4_Missense_Mutation_p.A287T|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	287	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTTGAAGATCGCCATCTCAGA	0.637000													11	12					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184026613	184026613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184026613C>A	ENST00000310118.4	+	21	3220	c.2662C>A	c.(2662-2664)Ctt>Att	p.L888I	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.L729I|PSMD2_ENST00000439383.1_Missense_Mutation_p.L758I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	71					1.39843e-22	1.84661e-22	1	1	0
CENPF	1063	broad.mit.edu	37	1	214791928	214791928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214791928G>T	ENST00000366955.3	+	4	540	c.372G>T	c.(370-372)gaG>gaT	p.E124D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	124	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAATCTGAGCTTGAAAGAA	0.403000													46	53					9.52127e-25	1.26392e-24	1	1	0
SLC6A9	6536	broad.mit.edu	37	1	44476507	44476507	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44476507T>C	ENST00000372310.3	-	3	243	c.78A>G	c.(76-78)aaA>aaG	p.K26K	SLC6A9_ENST00000360584.2_Silent_p.K99K|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372306.3_Silent_p.K26K|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000357730.2_Silent_p.K45K|SLC6A9_ENST00000537678.1_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	99						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGTTGCCCCGTTTGAGGTTCT	0.587000													19	37					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813973	42813973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42813973C>T	ENST00000499536.2	+	1	1048	c.237C>T	c.(235-237)caC>caT	p.H79H	PRR19_ENST00000598490.1_Silent_p.H79H|PRR19_ENST00000341747.3_Silent_p.H79H			A6NJB7	PRR19_HUMAN	proline rich 19	79										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCTTCAACCACGAGGTGAAAT	0.647000													47	103					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33740543	33740543	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33740543C>A	ENST00000293760.5	-	9	1393	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	LEMD2_ENST00000508327.1_Missense_Mutation_p.K156N	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	458						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCCAGACACGCTTCATGCGCC	0.622000													6	12					0.00198382	0.00210581	1	1	0
PHTF2	57157	broad.mit.edu	37	7	77569596	77569596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569596G>A	ENST00000416283.2	+	12	1741	c.1615G>A	c.(1615-1617)Gta>Ata	p.V539I	PHTF2_ENST00000248550.7_Missense_Mutation_p.V573I|PHTF2_ENST00000422959.2_Missense_Mutation_p.V539I|PHTF2_ENST00000424760.1_Missense_Mutation_p.V535I|PHTF2_ENST00000307305.8_Missense_Mutation_p.V535I|PHTF2_ENST00000275575.7_Missense_Mutation_p.V535I	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTGCTCTGTGTAGCAGAAAG	0.308000													40	119					0	0	1	0	0
CTD-3214H19.16	0	broad.mit.edu	37	19	7747355	7747355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747355C>T	ENST00000597959.1	+	3	392	c.392C>T	c.(391-393)gCg>gTg	p.A131V	TRAPPC5_ENST00000426877.2_Silent_p.R72R|TRAPPC5_ENST00000317378.5_Silent_p.R72R|TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000596148.1_Silent_p.R72R																							TGGTGGCGCGCGAAAAGGGTG	0.711000													8	5					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438000													29	50					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922014	39922014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39922014C>A	ENST00000342274.4	-	9	4418	c.4056G>T	c.(4054-4056)gaG>gaT	p.E1352D	BCOR_ENST00000378444.4_Missense_Mutation_p.E1386D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1352D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1334D|BCOR_ENST00000378463.1_Missense_Mutation_p.E229D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1386					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGGCATTCTCCACGTAGT	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	21					5.9392e-07	6.91975e-07	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7752261	7752261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7752261C>T	ENST00000254846.5	+	11	3044	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KDM6B_ENST00000448097.2_Silent_p.G885G	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	885	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGGCGGGCGAAGAGCCAG	0.697000													8	9					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081223	143081223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081223C>A	ENST00000367603.2	-	9	6944	c.6202G>T	c.(6202-6204)Gga>Tga	p.G2068*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.G2068*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.G2068*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2068	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATAAATCTCCTTTGGGTATC	0.463000													5	57					0.00116845	0.00124821	1	1	0
CHRNA4	1137	broad.mit.edu	37	20	61981752	61981752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981752C>T	ENST00000370263.4	-	5	1232	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCATGGTGTGCGTGCGTGGCG	0.622000													20	31					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333309	27333309	+	Missense_Mutation	SNP	C	C	T	rs142455633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27333309C>T	ENST00000289166.5	-	2	569	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	135										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTCACTGCGCAGGTCCAC	0.637000													29	42					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100830943	100830943	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100830943T>C	ENST00000358544.2	+	47	8634	c.8523T>C	c.(8521-8523)atT>atC	p.I2841I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I2816I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2841					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATAGATTGTGTTCAGCC	0.353000													17	186					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214794038	214794038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214794038G>A	ENST00000366955.3	+	6	782	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	205	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGAATCACCGCGACATTGCC	0.428000													29	136					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224743434	224743434	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224743434G>A	ENST00000233055.4	-	12	1289	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	396						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACCACAGGTGTCATGTCCCA	0.517000													8	13					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947529	148947529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148947529C>T	ENST00000335870.2	+	2	432	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GACCCTGCTGCAGGAGTATGG	0.652000													20	144					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128391	150128391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150128391C>T	ENST00000369124.4	+	3	587	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEKHO1_ENST00000025469.6_Silent_p.P103P|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	103	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAACAGCCCGGTAACACGG	0.527000													32	41					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379003	17379003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17379003G>T	ENST00000242057.4	+	10	2197	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	518					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ACCAGCCTCAGGATGTGAACT	0.393000													28	109					4.22769e-11	5.25533e-11	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005448	42005448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005448G>T	ENST00000395925.3	-	15	3307	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1075					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGACTCCAGGGTGACGTTC	0.587000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	67					1.024e-07	1.214e-07	1	1	0
SPATA5	166378	broad.mit.edu	37	4	124177314	124177314	+	Silent	SNP	C	C	T	rs76934283	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124177314C>T	ENST00000274008.3	+	15	2553	c.2484C>T	c.(2482-2484)acC>acT	p.T828T		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	828					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCTTCAAACCGACGCATACT	0.448000													23	38					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12278494	12278494	+	Missense_Mutation	SNP	G	G	A	rs61729668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12278494G>A	ENST00000256194.4	+	24	3406	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	MICAL2_ENST00000537344.1_Missense_Mutation_p.A850T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A814T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1019T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A850T	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1040	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCCTGGCCGCCTACACCTT	0.632000													18	29					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43980863	43980863	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43980863A>C	ENST00000282406.4	+	25	3869	c.3759A>C	c.(3757-3759)aaA>aaC	p.K1253N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1253	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTGAACAAAGATCTGGCAT	0.328000													13	75					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241913	7241913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7241913T>C	ENST00000542285.1	-	5	890	c.741A>G	c.(739-741)gtA>gtG	p.V247V				P00736	C1R_HUMAN	complement component 1, r subcomponent	248	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCAGTGTACTTGCTGGT	0.582000													6	16					0	0	1	0	0
TGDS	23483	broad.mit.edu	37	13	95230269	95230269	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95230269A>G	ENST00000261296.5	-	9	935	c.815T>C	c.(814-816)cTa>cCa	p.L272P		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	272					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAGTTGTATTAGTTCTTTGGC	0.348000													5	42					0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175956561	175956561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175956561G>A	ENST00000274811.4	-	9	1623	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	RNF44_ENST00000537487.1_Missense_Mutation_p.R286C	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	367							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTTAAAGCGGTACGACGGG	0.657000													14	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647664	152647664	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152647664G>A	ENST00000367255.5	-	79	15661	c.15060C>T	c.(15058-15060)ggC>ggT	p.G5020G	SYNE1_ENST00000341594.5_Silent_p.G4767G|SYNE1_ENST00000265368.4_Silent_p.G5020G|SYNE1_ENST00000448038.1_Silent_p.G4949G|SYNE1_ENST00000423061.1_Silent_p.G4949G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5020					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGGCCATTGCCTGCCAGCT	0.458000										HNSCC(10;0.0054)			4	29					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14208719	14208719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14208719G>A	ENST00000285021.7	-	5	785	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	XPC_ENST00000449060.2_Missense_Mutation_p.R154W	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	191					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCGCCCTCCGAAGATATGTC	0.468000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	10					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39126168	39126168	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39126168T>C	ENST00000505428.1	-	12	2134	c.1977A>G	c.(1975-1977)aaA>aaG	p.K659K	FYB_ENST00000515010.1_Intron|FYB_ENST00000351578.6_Intron|FYB_ENST00000540520.1_Silent_p.K669K|FYB_ENST00000512982.1_Silent_p.K659K	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	FYN binding protein	636					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTGTCATCTTTTCCCTTTA	0.408000													4	45					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697257	51697257	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51697257C>A	ENST00000409535.1	+	22	4350	c.4225C>A	c.(4225-4227)Ctt>Att	p.L1409I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L1103I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1409						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGCAACCTTTCGCGGGG	0.577000													7	72					5.18039e-06	5.91835e-06	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41008321	41008321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41008321G>T	ENST00000352632.3	+	10	1196	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACCTAGAGGTGCTGCTCT	0.617000													24	44					1.12875e-08	1.35699e-08	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79933703	79933703	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79933703C>T	ENST00000281127.7	+	2	1266	c.387C>T	c.(385-387)atC>atT	p.I129I	NRXN3_ENST00000335750.5_Silent_p.I761I|NRXN3_ENST00000428277.2_Silent_p.I129I|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.I129I|NRXN3_ENST00000554719.1_Silent_p.I761I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	129	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGTCCGCATCGACAGTGCTC	0.557000													31	34					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290723	74290723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74290723C>T	ENST00000565898.1	+	2	592	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PML_ENST00000435786.2_Missense_Mutation_p.R170C|PML_ENST00000436891.3_Missense_Mutation_p.R170C|PML_ENST00000563500.1_Missense_Mutation_p.R170C|PML_ENST00000354026.6_Missense_Mutation_p.R170C|PML_ENST00000569965.1_Missense_Mutation_p.R170C|PML_ENST00000564428.1_Missense_Mutation_p.R170C|PML_ENST00000395135.3_Missense_Mutation_p.R170C|PML_ENST00000395132.2_Missense_Mutation_p.R170C|PML_ENST00000359928.4_Missense_Mutation_p.R170C|PML_ENST00000268058.3_Missense_Mutation_p.R170C|PML_ENST00000569477.1_Missense_Mutation_p.R170C|PML_ENST00000567543.1_Missense_Mutation_p.R170C|PML_ENST00000268059.6_Missense_Mutation_p.R170C			P29590	PML_HUMAN	promyelocytic leukemia	170					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGAGCTGCGCAACCAGTC	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""								12	14					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131387	110131387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110131387G>A	ENST00000518632.1	+	3	1251	c.900G>A	c.(898-900)tgG>tgA	p.W300*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W300*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	300						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAGAAAATTGGTTTTTGCTCT	0.433000													98	162					0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107372330C>T	ENST00000443043.1	+	5	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_ENST00000405204.2_Missense_Mutation_p.R205W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383000													42	53					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18681866	18681866	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18681866C>A	ENST00000308799.4	+	12	2660	c.2441C>A	c.(2440-2442)tCt>tAt	p.S814Y	FBXW10_ENST00000395665.4_Missense_Mutation_p.S805Y|FBXW10_ENST00000395667.1_Missense_Mutation_p.S804Y|FBXW10_ENST00000301938.4_Missense_Mutation_p.S752Y			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	805										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGAAAAAGTCTTGGAAAATC	0.448000													12	15					0.00244969	0.00259885	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78046696G>A	ENST00000370801.3	-	9	2442	c.1967C>T	c.(1966-1968)aCt>aTt	p.T656I	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162I|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373000													45	130					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495647	179495647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179495647G>A	ENST00000589042.1	-	238	44262	c.44038C>T	c.(44038-44040)Ccc>Tcc	p.P14680S	TTN_ENST00000460472.2_Missense_Mutation_p.P5615S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12112S|TTN_ENST00000359218.5_Missense_Mutation_p.P5740S|TTN_ENST00000342175.6_Missense_Mutation_p.P5807S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13039S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13039	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCAGGGGTCGCACCAGT	0.493000													25	37					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3555383	3555383	+	Missense_Mutation	SNP	G	G	A	rs149705127		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3555383G>A	ENST00000378322.3	-	4	401	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	WRAP73_ENST00000270708.7_Missense_Mutation_p.R115W			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	115						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACGGTTATCCGCAGCTGTTGG	0.527000													26	26					0	0	1	0	0
ZNF271	0	broad.mit.edu	37	18	32887471	32887471	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32887471C>A	ENST00000399070.3	+	0	1865					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						AGCTCTTACCCTACACCAGAG	0.438000													9	33					1.33987e-11	1.67317e-11	1	1	0
PDPR	55066	broad.mit.edu	37	16	70180086	70180086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70180086C>A	ENST00000288050.4	+	16	2874	c.1917C>A	c.(1915-1917)tcC>tcA	p.S639S	PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000398122.3_Silent_p.S539S|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S639S|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	639					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGTTGTCCTATGCCCCTA	0.468000													23	117					6.04164e-23	7.98701e-23	1	1	0
TFR2	7036	broad.mit.edu	37	7	100228540	100228540	+	Missense_Mutation	SNP	G	G	A	rs150883560	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100228540G>A	ENST00000431692.1	-	7	1025	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	TFR2_ENST00000223051.3_Silent_p.F414F|TFR2_ENST00000462107.1_Silent_p.F414F|TFR2_ENST00000544242.1_5'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	0					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGATGCAGCCGAAGATGTTGT	0.602000													4	59					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347989	91347989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347989C>A	ENST00000358859.2	-	1	964	c.531G>T	c.(529-531)gaG>gaT	p.E177D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GCTCTCTCCACTCATACAGCT	0.667000													25	26					2.41591e-17	3.13163e-17	1	1	0
GSPT1	2935	broad.mit.edu	37	16	11981501	11981501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11981501G>T	ENST00000434724.2	-	7	1082	c.883C>A	c.(883-885)Cta>Ata	p.L295I	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Missense_Mutation_p.L157I|GSPT1_ENST00000420576.2_Missense_Mutation_p.L157I|GSPT1_ENST00000439887.2_Missense_Mutation_p.L294I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	157					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCATCTAGAATTGTGAAA	0.448000													12	124					0.000151284	0.000166931	1	1	0
DENND4A	10260	broad.mit.edu	37	15	66031164	66031164	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66031164C>T	ENST00000443035.3	-	6	896	c.681G>A	c.(679-681)ccG>ccA	p.P227P	DENND4A_ENST00000431932.2_Silent_p.P227P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	227	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACAGATTCCGGTAGTGAGA	0.338000													16	32					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637000													48	53					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921489	46921489	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921489T>G	ENST00000378623.1	-	4	597	c.355A>C	c.(355-357)Aat>Cat	p.N119H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	119	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTAGCCATTCTGGCAGGGA	0.632000													6	39					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33200138	33200138	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33200138T>C	ENST00000397061.3	+	2	762	c.762T>C	c.(760-762)atT>atC	p.I254I		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	254	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAAAGAAATTTGGTTGCCAC	0.428000													28	278					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41903202	41903202	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41903202G>A	ENST00000398393.1	-	7	866	c.606C>T	c.(604-606)gtC>gtT	p.V202V	MPP3_ENST00000398389.4_Silent_p.V177V			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	177	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCCAACGTGGACCAGGCCTA	0.617000													4	31					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56506847	56506847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56506847G>A	ENST00000370754.5	-	16	1825	c.1826C>T	c.(1825-1827)gCt>gTt	p.A609V	DST_ENST00000518935.1_Missense_Mutation_p.A105V|DST_ENST00000312431.6_Missense_Mutation_p.A431V|DST_ENST00000370769.4_Missense_Mutation_p.A431V|DST_ENST00000421834.2_Missense_Mutation_p.A431V|DST_ENST00000370788.2_Missense_Mutation_p.A431V|DST_ENST00000244364.6_Missense_Mutation_p.A105V|DST_ENST00000361203.3_Missense_Mutation_p.A431V|DST_ENST00000446842.2_Missense_Mutation_p.A105V|DST_ENST00000370765.6_Missense_Mutation_p.A105V			Q03001	DYST_HUMAN	dystonin	431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATACCCAGCAATTTCTGC	0.338000													19	33					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65267740	65267740	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65267740G>A	ENST00000534336.1	+	0	2508					NR_002819.2																						TTTGAAAAATGTGAAGGACTT	0.308000													15	15					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203760929	203760929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203760929G>A	ENST00000261015.3	-	6	1217	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	156	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCAATAATAAGCAGGACAAAC	0.363000													10	28					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99182651C>T	ENST00000325812.2	+	3	542	c.123C>T	c.(121-123)tgC>tgT	p.C41C		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542000													9	27					0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212619202	212619202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212619202C>A	ENST00000366988.3	+	4	430	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	125	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGGAGGCCCTGGATGAGGT	0.532000													18	105					3.32936e-07	3.90007e-07	1	1	0
NF1	4763	broad.mit.edu	37	17	29554597	29554597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29554597T>C	ENST00000358273.4	+	20	2765	c.2382T>C	c.(2380-2382)taT>taC	p.Y794Y	NF1_ENST00000356175.3_Silent_p.Y794Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	794					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Y794*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTAACTATCCAAAAGCCA	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	61					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48215880	48215880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48215880C>T	ENST00000302506.3	-	9	1232	c.824G>A	c.(823-825)aGa>aAa	p.R275K	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.R235K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	275					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCGTTCTGGTCTCTTCAACAC	0.507000													5	54					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082676	62082676	+	Missense_Mutation	SNP	G	G	A	rs150482335	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62082676G>A	ENST00000412356.1	-	4	473	c.119C>T	c.(118-120)cCc>cTc	p.P40L	ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000449662.2_Missense_Mutation_p.P40L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P40L|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P40L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	40					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGACCCTTTGGGCTCAACCGC	0.557000													16	19					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58301644	58301644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58301644C>T	ENST00000598183.1	+	2	215	c.39C>T	c.(37-39)agC>agT	p.S13S	ZNF586_ENST00000598885.1_Silent_p.S13S|ZNF586_ENST00000599802.1_Intron			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAGAGCAGTGTGACCT	0.488000													9	131					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163454	163454	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:163454T>C	ENST00000283426.6	+	11	2249	c.2199T>C	c.(2197-2199)ccT>ccC	p.P733P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	733					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGAGATACCTCAGCCCGACA	0.567000													12	108					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794857	2794857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794857G>A	ENST00000307741.6	+	3	528	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	109					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.D109N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGAGTTCGACGTGGAGAT	0.567000													32	58					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	133996919	133996919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133996919G>T	ENST00000398844.2	+	2	496	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	SEC24A_ENST00000322887.4_Missense_Mutation_p.V70F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	70					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAATCCAGTCTCTGGACA	0.473000													17	204					4.7546e-09	5.74312e-09	1	1	0
ESX1	80712	broad.mit.edu	37	X	103499526	103499526	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103499526T>C	ENST00000372588.4	-	1	88	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	2					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGAAGAGACTCCATGCTTCA	0.592000													56	82					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142491540	142491540	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142491540T>C	ENST00000367630.4	+	4	451	c.393T>C	c.(391-393)ttT>ttC	p.F131F	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Silent_p.F73F|VTA1_ENST00000367621.1_Silent_p.F73F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	131	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAACAGTATTTGGAGAACTCA	0.318000													6	150					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98673358	98673358	+	Missense_Mutation	SNP	C	C	T	rs139976558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98673358C>T	ENST00000261574.5	+	28	3412	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	IPO5_ENST00000539640.1_Missense_Mutation_p.R935C|IPO5_ENST00000490680.1_Missense_Mutation_p.R1060C	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1060					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGTGCCAAACGTCTGGCCAA	0.418000													44	104					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69135688	69135688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69135688C>T	ENST00000229179.4	+	27	2930	c.2598C>T	c.(2596-2598)caC>caT	p.H866H	NUP107_ENST00000378905.2_Silent_p.H627H|NUP107_ENST00000539906.1_Silent_p.H837H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	866					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CGATATTGCACAGTACTGGTC	0.413000													5	116					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498566	75498566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498566G>A	ENST00000360639.2	+	2	497	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C15orf39_ENST00000394987.4_Silent_p.E59E|C15orf39_ENST00000567617.1_Silent_p.E59E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	59										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAAGGCCGAGTCTGAGCAGT	0.602000													9	20					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103579	38103579	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38103579C>A	ENST00000592533.1	+	5	1730	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ZNF540_ENST00000343599.5_Silent_p.P466P|ZNF540_ENST00000589117.1_Silent_p.P434P|ZNF540_ENST00000316433.4_Silent_p.P466P	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAAGCCCTACGAATGTA	0.403000													6	63					0.217242	0.218821	1	1	0
ZNF786	136051	broad.mit.edu	37	7	148768624	148768624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768624C>T	ENST00000316286.9	-	3	1254	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ZNF786_ENST00000491431.1_Missense_Mutation_p.V414I|ZNF786_ENST00000451334.3_Missense_Mutation_p.V377I			Q8N393	ZN786_HUMAN	zinc finger protein 786	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGGTGGACCTGCAGCAGG	0.642000													17	28					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116150638	116150638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150638G>T	ENST00000409155.3	-	12	1131	c.935C>A	c.(934-936)gCt>gAt	p.A312D	ALAD_ENST00000277315.5_Missense_Mutation_p.A295D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	312					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GATGATGTCAGCACCTGTGTT	0.547000													7	53					0.0293803	0.0301098	1	1	0
TPTE2P6	0	broad.mit.edu	37	13	25155764	25155764	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25155764G>A	ENST00000453498.1	+	0	411																											tttataccacgtatgttcctt	0.368000													16	9					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	rs139462449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55584911C>T	ENST00000262134.5	+	11	1296	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCATCTATTGCGAGTTCCTCA	0.348000													35	43					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18145559	18145559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18145559G>A	ENST00000316843.4	+	20	3058	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	988					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAGCCTTGATGGAAGCCCTGA	0.642000													54	90					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79628942	79628942	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79628942G>A	ENST00000372391.2	-	2	323	c.318C>T	c.(316-318)agC>agT	p.S106S	DLG5_ENST00000372388.2_Silent_p.S106S|AL391421.1_ENST00000372387.1_3'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	106					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACAGGACGCTGTAGGTAG	0.592000													22	27					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668594	53668594	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668594G>A	ENST00000600412.1	-	2	1069	c.954C>T	c.(952-954)ttC>ttT	p.F318F	ZNF665_ENST00000396424.3_Silent_p.F383F			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGCATACTGAAGGCTTTCC	0.408000													23	38					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946205	72946205	+	Missense_Mutation	SNP	G	G	A	rs113741989		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946205G>A	ENST00000311131.2	+	3	1468	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R334H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R334H	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	334			R -> C (in dbSNP:rs1626154).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGCTCGCCGCAGGCTGGGC	0.647000													24	16					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422108	81422108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422108C>A	ENST00000541158.2	+	2	406	c.84C>A	c.(82-84)ccC>ccA	p.P28P	TSHR_ENST00000342443.6_Silent_p.P28P|TSHR_ENST00000298171.2_Silent_p.P28P|TSHR_ENST00000554263.1_Silent_p.P28P|TSHR_ENST00000554435.1_Silent_p.P28P|TSHR_ENST00000557096.1_3'UTR			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	28					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGTCTCCACCCTGCGAGTGCC	0.622000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						47	67					3.61183e-13	4.57395e-13	1	1	0
NUP210	23225	broad.mit.edu	37	3	13381787	13381787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13381787C>T	ENST00000254508.5	-	24	3322	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1080					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCCTGAACGGGGGAAAGA	0.577000													5	32					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837275	82837275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82837275C>T	ENST00000265077.3	+	8	9018	c.8453C>T	c.(8452-8454)gCg>gTg	p.A2818V	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1831V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2818	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAACATTTGCGAAGTTGTCT	0.493000													16	75					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4716021	4716021	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4716021G>A	ENST00000354582.6	+	22	2942	c.2592G>A	c.(2590-2592)acG>acA	p.T864T	ITPR1_ENST00000423119.2_Silent_p.T864T|ITPR1_ENST00000357086.4_Silent_p.T864T|ITPR1_ENST00000443694.2_Silent_p.T849T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.T849T|ITPR1_ENST00000456211.2_Silent_p.T849T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	864					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATAAGCTTACGTTTGAGGTAA	0.383000													4	12					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155695804	155695804	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155695804C>A	ENST00000368336.5	+	6	590	c.466C>A	c.(466-468)Cca>Aca	p.P156T	DAP3_ENST00000535183.1_Missense_Mutation_p.P115T|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.P122T|DAP3_ENST00000343043.3_Missense_Mutation_p.P156T|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471214.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	156					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTACATATTCCAGATGGTAA	0.368000													12	48					9.31168e-06	1.06029e-05	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39336649	39336649	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39336649G>A	ENST00000221419.5	-	3	834	c.468C>T	c.(466-468)taC>taT	p.Y156Y	HNRNPL_ENST00000600873.1_Silent_p.Y23Y	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	156	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGTCGGCTGCGTAGTTCACTG	0.522000													4	106					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789612G>A	ENST00000330803.2	-	1	879	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATAGAAGGCTGACACTAC	0.488000													25	34					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226043589	226043589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226043589T>C	ENST00000366835.3	-	18	1894	c.1624A>G	c.(1624-1626)Atc>Gtc	p.I542V		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	542						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCAACCTGATGGAGGCCTCC	0.522000													11	18					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690298	17690298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17690298C>T	ENST00000399839.1	-	2	540	c.270G>A	c.(268-270)aaG>aaA	p.K90K	CECR1_ENST00000262607.3_Silent_p.K90K|CECR1_ENST00000449907.2_Silent_p.K48K|CECR1_ENST00000399837.2_Silent_p.K90K			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	90	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATGAGATGCTTGGCCTGGA	0.498000													16	23					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123984369	123984369	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123984369G>T	ENST00000306315.5	-	4	2143	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	ZNF608_ENST00000504926.1_Missense_Mutation_p.L143M	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	570						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGTACCTCAGGCCGTTAATG	0.493000													4	73					0.150653	0.152692	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151873923	151873923	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873923G>T	ENST00000355193.2	-	38	8833	c.8615C>A	c.(8614-8616)cCt>cAt	p.P2872H	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2872H					lysine (K)-specific methyltransferase 2C																		TGGATCACAAGGATGCAAAGA	0.413000													21	95					4.96729e-08	5.9048e-08	1	1	0
ZNF566	84924	broad.mit.edu	37	19	36940060	36940060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940060C>A	ENST00000454319.1	-	5	1213	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	ZNF566_ENST00000424129.2_Missense_Mutation_p.R359I|ZNF566_ENST00000392170.2_Missense_Mutation_p.R360I|ZNF566_ENST00000493391.1_Missense_Mutation_p.R255I|ZNF566_ENST00000434377.2_Missense_Mutation_p.R359I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGATGTCT	0.378000													4	36					0.00024832	0.0002712	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130300717	130300717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130300717C>T	ENST00000358511.6	+	8	3891	c.3860C>T	c.(3859-3861)aCa>aTa	p.T1287I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1287I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1287	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTATGGGATACATTTCAGAAT	0.333000													54	121					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231046	21231046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21231046C>T	ENST00000233242.1	-	26	8821	c.8694G>A	c.(8692-8694)ctG>ctA	p.L2898L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAGAAGTCCAGTTTGGGGA	0.443000													15	200					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37324205	37324205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37324205T>G	ENST00000231498.3	-	20	2299	c.2096A>C	c.(2095-2097)gAa>gCa	p.E699A	NUP155_ENST00000381843.2_Missense_Mutation_p.E640A|NUP155_ENST00000513532.1_Missense_Mutation_p.E699A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	699					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACACTACTTTCAATCTGTAA	0.338000													6	49					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56572787	56572787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56572787C>T	ENST00000390649.3	+	15	3496	c.3496C>T	c.(3496-3498)Caa>Taa	p.Q1166*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTACCCTGTGCAAATAAGGAA	0.498000													8	52					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182683	57182683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182683G>T	ENST00000504228.1	+	6	3120	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N	KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1005N|KIAA1211_ENST00000541073.1_Missense_Mutation_p.K998N			Q6ZU35	K1211_HUMAN	KIAA1211	1005	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCCGTCCAAGGAGGACCAGG	0.652000													3	16					6.4e-05	7.11719e-05	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247151450	247151450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247151450G>A	ENST00000339986.7	-	4	514	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ZNF695_ENST00000487338.2_Missense_Mutation_p.R123C|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	123					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTAAGCGTAATTTCTCA	0.403000													25	221					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151395886	151395886	+	Silent	SNP	G	G	T	rs148954998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151395886G>T	ENST00000271715.2	-	10	1979	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	POGZ_ENST00000392723.1_Silent_p.P502P|POGZ_ENST00000491586.1_Silent_p.P502P|POGZ_ENST00000361398.3_Silent_p.P502P|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000368863.2_Silent_p.P460P|POGZ_ENST00000531094.1_Silent_p.P493P|POGZ_ENST00000409503.1_Silent_p.P546P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	555					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGATTCATAGGGACTATGAA	0.448000													4	72					1.23904e-05	1.39987e-05	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7568364	7568364	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568364C>T	ENST00000340209.4	+	2	555	c.258C>T	c.(256-258)agC>agT	p.S86S	RBFOX1_ENST00000422070.4_Silent_p.S124S|RBFOX1_ENST00000552089.1_Silent_p.S117S|RBFOX1_ENST00000355637.4_Silent_p.S101S|RBFOX1_ENST00000436368.2_Silent_p.S101S|RBFOX1_ENST00000547372.1_Silent_p.S124S|RBFOX1_ENST00000550418.1_Silent_p.S81S|RBFOX1_ENST00000535565.2_Silent_p.S117S|RBFOX1_ENST00000547338.1_Silent_p.S81S|RBFOX1_ENST00000311745.5_Silent_p.S101S|RBFOX1_ENST00000553186.1_Silent_p.S81S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	81					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGACACGAGCGCTCAGACCG	0.657000													36	63					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41601141	41601141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601141C>T	ENST00000262415.3	+	23	3661	c.3589C>T	c.(3589-3591)Cgt>Tgt	p.R1197C	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGCAACAGCGTCTTGAACC	0.512000													23	42					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74344663	74344663	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74344663C>A	ENST00000446526.3	-	2	616		c.e2-1		PRPSAP1_ENST00000324684.4_Splice_Site	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1						nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCAAGGCGCCTATAGATCAA	0.259000													3	10					0.0215528	0.0221649	1	1	0
HDAC5	10014	broad.mit.edu	37	17	42168789	42168789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168789C>T	ENST00000225983.6	-	11	1562	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000393622.2_Silent_p.T412T|HDAC5_ENST00000586802.1_Silent_p.T412T			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	412					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCCGGTCAGCGTGCCACCCT	0.682000													7	21					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899528	103899528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103899528G>T	ENST00000278070.2	+	5	1302	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K421N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGAGGAGAAGCTGGACTCAG	0.572000													12	88					1.08611e-07	1.2824e-07	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187693346	187693346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693346C>A	ENST00000295131.2	-	9	1306	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	423					apoptosis		zinc ion binding	p.D423Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338000													5	56					0.000602214	0.000649039	1	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417510	150417510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417510G>A	ENST00000307194.5	+	3	558	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATGTTCGGGGAGGACGT	0.652000													35	30					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4909942	4909942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4909942C>T	ENST00000396658.4	+	5	1347	c.644C>T	c.(643-645)tCg>tTg	p.S215L	UBN1_ENST00000590769.1_Missense_Mutation_p.S215L|UBN1_ENST00000262376.6_Missense_Mutation_p.S215L|UBN1_ENST00000545171.1_Missense_Mutation_p.S215L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	215	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAAGAAATCGAAAAAGTCC	0.453000													15	36					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48120675	48120675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120675C>A	ENST00000311303.3	-	26	4036	c.3691G>T	c.(3691-3693)Gag>Tag	p.E1231*	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTTCTCTCCAGAACCTGC	0.498000													46	99					1.30916e-28	1.74989e-28	1	1	0
FBN2	2201	broad.mit.edu	37	5	127599171	127599171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127599171G>A	ENST00000508053.1	-	69	9112	c.8138C>T	c.(8137-8139)aCg>aTg	p.T2713M	FBN2_ENST00000262464.4_Missense_Mutation_p.T2713M			P35556	FBN2_HUMAN	fibrillin 2	2713	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T2713M(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCCCTCCGTGTTAGAGCA	0.587000													43	70					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12195185	12195185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12195185T>C	ENST00000287814.4	-	5	1015	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGAGATGGTACAGGGTACT	0.483000													9	76					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99457448	99457448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99457448G>A	ENST00000376460.1	-	52	5652	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L	DOCK9_ENST00000339416.2_Silent_p.L1845L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1859	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAGAATCCAGATCCTTAGGG	0.413000													3	4					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125446203	125446203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125446203G>T	ENST00000278903.6	+	4	483	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L	EI24_ENST00000343678.4_Missense_Mutation_p.V81L|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	81					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGGTGGAGTGTTCTGGGT	0.368000													8	27					3.09899e-07	3.63227e-07	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6022181	6022181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022181G>A	ENST00000378858.4	-	5	1934	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	570						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGAGGCCGGGGCACCGGCACC	0.701000													33	58					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864714	160864714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160864714G>A	ENST00000392145.1	+	9	1480	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A484T			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	484						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGGAATCATAGCCCCATTTCT	0.403000													20	43					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094683	143094683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143094683G>A	ENST00000367603.2	-	5	1935	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S398F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S398F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAGTAACCAGAATCAGTGCT	0.433000													56	76					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379590	67379590	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67379590G>T	ENST00000322776.6	+	9	1315		c.e9-1		NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGTGGCTGCAGGTGTGGACTG	0.622000													14	53					0.0242445	0.0249276	1	1	0
ABL1	25	broad.mit.edu	37	9	133760330	133760330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133760330C>T	ENST00000318560.5	+	11	3034	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	885	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCTGAGTCGCCAGGGAGGGA	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								4	12					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213677	58213677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58213677C>A	ENST00000512439.2	-	3	836	c.640G>T	c.(640-642)Gta>Tta	p.V214L	ZNF154_ENST00000426889.1_Missense_Mutation_p.V214L|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCGTACTGCAGTGTGA	0.443000													27	84					8.24728e-16	1.06091e-15	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6515458	6515458	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515458C>T	ENST00000361413.3	-	8	1684	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	KIAA0753_ENST00000572370.1_Silent_p.Q143Q|KIAA0753_ENST00000542606.1_Silent_p.Q143Q|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	442						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCGTATCGGGCTGATACTTAT	0.393000													14	31					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057822	158057822	+	Missense_Mutation	SNP	C	C	T	rs145671356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158057822C>T	ENST00000264428.4	+	5	769	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	GLRB_ENST00000509282.1_Missense_Mutation_p.R167C|GLRB_ENST00000541722.1_Missense_Mutation_p.R167C|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	167					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.R167C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTTTATTTTTCGTGATGGAGA	0.318000													43	71					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19319035	19319035	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19319035G>A	ENST00000263208.5	-	25	3238	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_ENST00000541063.1_Silent_p.I950I|HIRA_ENST00000340170.4_Silent_p.I787I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587000													18	31					0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118037666	118037666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118037666T>C	ENST00000278947.5	-	4	825	c.584A>G	c.(583-585)gAc>gGc	p.D195G		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	195					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGTCTTCAGGTCATCTGTGCT	0.612000													10	97					0	0	1	0	0
ARL6	84100	broad.mit.edu	37	3	97487043	97487043	+	Missense_Mutation	SNP	C	C	T	rs104893680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97487043C>T	ENST00000463745.1	+	2	569	c.92C>T	c.(91-93)aCg>aTg	p.T31M	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.T31M|ARL6_ENST00000335979.2_Missense_Mutation_p.T31M	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	31			T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation).|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation).		cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGTGGCAAAACGACGATCATT	0.348000													19	40					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169806110	169806110	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169806110C>A	ENST00000286031.6	+	17	2282	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	C1orf112_ENST00000359326.4_Missense_Mutation_p.L528M|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	528										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGAAAATCTGCCTCTGTG	0.428000													14	63					0.00185496	0.00197886	1	1	0
GRK4	2868	broad.mit.edu	37	4	3029647	3029647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3029647C>T	ENST00000398052.4	+	11	1322	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	GRK4_ENST00000398051.4_Missense_Mutation_p.R295W|GRK4_ENST00000345167.6_Missense_Mutation_p.R295W|GRK4_ENST00000504933.1_Missense_Mutation_p.R327W|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACACATCCGGATTTCAGA	0.483000													7	48					0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57325593	57325593	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57325593G>T	ENST00000514888.1	+	10	1406	c.891G>T	c.(889-891)caG>caT	p.Q297H	PAICS_ENST00000512576.1_Missense_Mutation_p.Q389H|PAICS_ENST00000399688.3_Missense_Mutation_p.Q396H|PAICS_ENST00000264221.2_Missense_Mutation_p.Q389H			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	389	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TTGCTGCTCAGATATTTGGGT	0.413000													6	30					0.00116845	0.00124821	1	1	0
SWT1	54823	broad.mit.edu	37	1	185153476	185153476	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185153476G>A	ENST00000367500.4	+	8	1405	c.1240_splice	c.e8+1	p.G414_splice	SWT1_ENST00000367501.3_Splice_Site_p.G414_splice	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	414	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAGTACCAGGTATTTACAG	0.284000													20	21					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352738	92352738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92352738G>T	ENST00000276609.3	+	8	1224	c.985G>T	c.(985-987)Gga>Tga	p.G329*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G329*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G329*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	329						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTTGCTCAAGGATCTGCCAA	0.512000													11	41					1.08611e-07	1.2824e-07	1	1	0
INSR	0	broad.mit.edu	37	19	7267410	7267410	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267410C>T	ENST00000341500.5	-	2	637	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	INSR_ENST00000302850.5_Missense_Mutation_p.V200I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	200	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGTTGATGACGGTGGCGGGG	0.537000													25	30					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571786	85571786	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85571786C>T	ENST00000295802.4	-	7	1299	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	RETSAT_ENST00000457495.2_Missense_Mutation_p.G335D|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.G396D	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	396					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCTTGGTGCCTCGCAGGCA	0.577000													15	35					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27456013	27456013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27456013G>A	ENST00000316403.10	-	8	1709	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	CLU_ENST00000523500.1_Missense_Mutation_p.A435V|CLU_ENST00000560366.1_Missense_Mutation_p.A487V|CLU_ENST00000405140.3_Missense_Mutation_p.A435V|CLU_ENST00000546343.1_Missense_Mutation_p.A446V			P10909	CLUS_HUMAN	clusterin	435					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGCTTTCTCCGCCACGGTCTC	0.557000													38	68					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349249	233349249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233349249C>A	ENST00000304546.1	-	6	1327	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	ECEL1_ENST00000409941.1_Nonsense_Mutation_p.E373*	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	373					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCACCACCTCCTCTTCCTCT	0.592000													10	142					1	1	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061554	117061554	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117061554G>A	ENST00000355044.3	+	17	2944		c.e17+1		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTGCTCCCGTAAGTATTTA	0.363000													31	64					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858910	94858910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94858910C>T	ENST00000358746.2	-	18	2051	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	585							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTTACTCAGCCACTGCTTGA	0.398000													62	131					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170012830	170012830	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170012830G>T	ENST00000263816.3	-	65	12390	c.12105C>A	c.(12103-12105)ggC>ggA	p.G4035G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4035	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGACGTGAAGCCATCAGCAC	0.428000													8	77					0.00448238	0.00472561	1	1	0
VPS18	57617	broad.mit.edu	37	15	41192696	41192696	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41192696A>G	ENST00000220509.5	+	4	2019	c.1680A>G	c.(1678-1680)gcA>gcG	p.A560A	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	560					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACTTTGCAGTGATCATGC	0.627000													58	100					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552000													10	26					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799629	27799629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799629G>A	ENST00000408964.2	+	1	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	64										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAATCTTTGGAGTTTACTGT	0.413000													30	35					0	0	1	0	0
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677208T>C	ENST00000586602.1	-	6	997	c.581A>G	c.(580-582)cAt>cGt	p.H194R	ZNF121_ENST00000320451.6_Missense_Mutation_p.H194R			P58317	ZN121_HUMAN	zinc finger protein 121	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H194L(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448000													5	62					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254308	49254308	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49254308G>T	ENST00000310160.3	-	4	1205	c.231C>A	c.(229-231)ctC>ctA	p.L77L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	77					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGTGCCGGAGAGGGAAGCAG	0.662000													8	31					3.09899e-07	3.63227e-07	1	1	0
TRBV11-1	0	broad.mit.edu	37	7	142223870	142223870	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142223870C>T	ENST00000390367.3	-	0	313																											GCTCTGCAGGCTGGATCTTGA	0.502000													8	183					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148899866	148899866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148899866C>T	ENST00000261798.5	-	4	875	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.R148H|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.R148H|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.R59H	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	148	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATTACAGTGACGCCCAATACC	0.318000													25	27					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5965469	5965469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:5965469T>G	ENST00000378156.4	-	15	2103	c.1838A>C	c.(1837-1839)aAt>aCt	p.N613T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	613					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGTTTATTGGCATCCAG	0.547000													7	59					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329520	69329520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69329520C>T	ENST00000260364.5	+	9	1588	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	NOX5_ENST00000530406.2_Silent_p.C419C|NOX5_ENST00000448182.3_Silent_p.C401C|NOX5_ENST00000388866.3_Silent_p.C447C|NOX5_ENST00000455873.3_Silent_p.C412C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	447	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGCCGTGTGCATCATGGAAG	0.577000													9	37					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108104204	108104204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108104204G>A	ENST00000412830.3	+	14	1481	c.1313G>A	c.(1312-1314)tGt>tAt	p.C438Y	PWP1_ENST00000541166.1_Missense_Mutation_p.C376Y	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	438					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGTTCTTCATGTTGCCCTGAT	0.413000													31	47					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201944	21201944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21201944G>A	ENST00000239347.3	-	1	260	c.221C>T	c.(220-222)aCt>aTt	p.T74I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATGGCTTGAGTCTTCTGGAA	0.488000													45	77					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135788751	135788751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135788751G>T	ENST00000367800.4	-	4	373	c.157C>A	c.(157-159)Ctt>Att	p.L53I	AHI1_ENST00000457866.2_Missense_Mutation_p.L53I|AHI1_ENST00000327035.6_Missense_Mutation_p.L53I	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	53						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATATAGTGAAGATTGCTTCTA	0.328000													8	25					3.09899e-07	3.63227e-07	1	1	0
CDH4	1002	broad.mit.edu	37	20	60427860	60427860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597000													37	64					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304188	6304188	+	Missense_Mutation	SNP	C	C	T	rs147934586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304188C>T	ENST00000226760.1	+	8	2836	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	WFS1_ENST00000503569.1_Missense_Mutation_p.A889V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	889					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCTGTCGGCGGCCTGAGGA	0.637000													10	12					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171303505	171303505	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171303505G>A	ENST00000296933.6	-	8	1273	c.903C>T	c.(901-903)aaC>aaT	p.N301N	FBXW11_ENST00000425623.2_Silent_p.N282N|FBXW11_ENST00000265094.5_Silent_p.N314N|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.N280N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	314					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCAATGTGTTAAGAACTT	0.468000													26	31					0	0	1	0	0
BDKRB1	0	broad.mit.edu	37	14	96730334	96730334	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F105F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557000													27	39					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305164	121305164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121305164C>A	ENST00000334384.3	+	4	675	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTTTGTACTCTGATGCCTAT	0.448000													11	128					0.000978159	0.00105116	1	1	0
SIM1	6492	broad.mit.edu	37	6	100841366	100841366	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841366G>T	ENST00000369208.3	-	11	2349	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	SIM1_ENST00000262901.4_Missense_Mutation_p.H523N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	523	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCTTACCATGGATCCTGTGG	0.522000													5	72					0.00307968	0.00325696	1	1	0
UBAP2	55833	broad.mit.edu	37	9	34017093	34017093	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34017093C>A	ENST00000379238.1	-	2	171	c.54G>T	c.(52-54)caG>caT	p.Q18H	UBAP2_ENST00000360802.1_Missense_Mutation_p.Q18H|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q18H|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q18H			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	18								p.Q18H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTGAAATCTGTGGTTTTT	0.333000													4	80					0.000602214	0.000649039	1	1	0
HK2	3099	broad.mit.edu	37	2	75113686	75113686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75113686G>A	ENST00000290573.2	+	15	2705	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	HK2_ENST00000409174.1_Missense_Mutation_p.R674Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGGGGCGGATGTGTGTG	0.557000													29	51					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133006	64133006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133006C>T	ENST00000295902.6	-	7	1745	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S443N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	387						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGGTTGAGGCTGGGTGTCTG	0.607000													40	73					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717336	169717336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169717336G>A	ENST00000444448.2	+	17	1858	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.R404Q			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	404	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAATATCTCGGCCTTTTTTA	0.368000													28	55					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423124	44423124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44423124C>T	ENST00000372343.3	+	7	2105	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	481					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGACCATTGACGTCAACTATT	0.567000													18	55					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41601117	41601117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601117C>A	ENST00000262415.3	+	23	3637	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1189						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAACTAAGCTAAGCAAACA	0.517000													6	57					0.00198382	0.00210581	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26272207	26272207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272207G>A	ENST00000335473.7	+	24	4382	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1378T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1379T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1378						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGTTCCTCGCAGTCAAGGA	0.572000													9	13					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538527	58538527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538527G>A	ENST00000394282.4	+	7	909	c.502G>A	c.(502-504)Gga>Aga	p.G168R	NDRG4_ENST00000258187.5_Missense_Mutation_p.G148R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134R|NDRG4_ENST00000562999.1_Missense_Mutation_p.G116R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148R|NDRG4_ENST00000356752.4_Missense_Mutation_p.G146R|NDRG4_ENST00000570248.1_Missense_Mutation_p.G116R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G61R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	116					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGGGCGCCGGAGCCTATGT	0.597000													22	38					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117681	31117681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31117681C>A	ENST00000304166.4	+	4	522	c.233C>A	c.(232-234)cCt>cAt	p.P78H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P78H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	78					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCAGCTGCCCTGAGCTCTTC	0.592000													9	62					2.17888e-05	2.45068e-05	1	1	0
FARP1	10160	broad.mit.edu	37	13	99030088	99030088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99030088C>T	ENST00000376586.2	+	6	748	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	FARP1_ENST00000595437.1_Silent_p.L138L|FARP1_ENST00000319562.6_Silent_p.L138L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	138	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTGTTCGCGCTGCAGGTGAA	0.547000													23	24					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78282876	78282876	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78282876G>T	ENST00000582970.1	+	14	2703	c.2560G>T	c.(2560-2562)Gcc>Tcc	p.A854S	RNF213_ENST00000508628.2_Missense_Mutation_p.A903S|RNF213_ENST00000456466.1_Missense_Mutation_p.A854S|RNF213_ENST00000319921.4_Missense_Mutation_p.A854S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	854										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTGCATGAAGCCATCTGCAG	0.488000													4	91					0.00024832	0.0002712	1	1	0
ATRX	546	broad.mit.edu	37	X	76918942	76918942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76918942C>T	ENST00000373344.5	-	12	4263	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1312E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1350					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAGATTCTCCGTCACTCAC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						40	41					0	0	1	0	0
PRELID2	153768	broad.mit.edu	37	5	145176105	145176105	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145176105T>A	ENST00000334744.4	-	6	462	c.410A>T	c.(409-411)gAg>gTg	p.E137V	PRELID2_ENST00000505416.1_Missense_Mutation_p.E125V|PRELID2_ENST00000394450.2_Missense_Mutation_p.E96V|PRELID2_ENST00000511435.1_Missense_Mutation_p.E125V|PRELID2_ENST00000358004.2_Missense_Mutation_p.E125V	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	137	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATGAACTCTGTCCTGCA	0.383000													11	76					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21328398	21328398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21328398C>A	ENST00000399167.2	+	5	642	c.402C>A	c.(400-402)tgC>tgA	p.C134*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.C122*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.C134*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.C140*	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662000													10	12					0.000673444	0.000724755	1	1	0
AQPEP	0	broad.mit.edu	37	5	115350196	115350196	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115350196G>A	ENST00000357872.4	+	16	2546	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		808					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGAACTTTTCGCAAAATGGGT	0.363000													30	38					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452847	100452847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452847C>T	ENST00000279907.7	-	14	2420	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	UHRF1BP1L_ENST00000545232.2_Silent_p.E386E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	736										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGTGACTCTGCATATC	0.408000													41	72					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73611337	73611337	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73611337T>C	ENST00000544909.1	+	4	664	c.407T>C	c.(406-408)tTt>tCt	p.F136S	PAAF1_ENST00000310571.3_Missense_Mutation_p.F135S|PAAF1_ENST00000544552.1_Missense_Mutation_p.F118S|PAAF1_ENST00000376384.5_Missense_Mutation_p.F118S|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000541951.1_Missense_Mutation_p.F20S|PAAF1_ENST00000536003.1_Missense_Mutation_p.F118S|PAAF1_ENST00000535604.1_Missense_Mutation_p.F20S			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	135					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGACATGTGTTTGATGTGAAT	0.463000													79	110					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404364	134404364	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404364G>A	ENST00000372215.4	-	5	663	c.570C>T	c.(568-570)ttC>ttT	p.F190F	UCK1_ENST00000372210.3_Silent_p.F181F|UCK1_ENST00000372211.3_Silent_p.F195F|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Intron	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCGGCTTCACGAAGGTGGTGT	0.612000													8	13					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042740	42042740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042740C>T	ENST00000219905.7	+	17	7116	c.6935C>T	c.(6934-6936)aCt>aTt	p.T2312I	MGA_ENST00000389936.4_Missense_Mutation_p.T2273I|MGA_ENST00000566586.1_Missense_Mutation_p.T2103I|MGA_ENST00000570161.1_Missense_Mutation_p.T2312I|MGA_ENST00000545763.1_Missense_Mutation_p.T2103I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2273						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAGAAAACTGATGATTCT	0.403000													5	11					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911241	166911241	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166911241A>G	ENST00000423058.2	-	4	526	c.509T>C	c.(508-510)cTt>cCt	p.L170P	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L170P|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L170P|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L170P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	170						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTTTTATAAGTGATTCAAA	0.328000													3	38					0	0	1	0	0
METTL21A	151194	broad.mit.edu	37	2	208477941	208477941	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208477941G>T	ENST00000411432.1	-	4	702	c.486C>A	c.(484-486)ctC>ctA	p.L162L	METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000442521.1_Silent_p.L162L|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000426075.1_Silent_p.L162L|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000448007.2_Silent_p.L162L|METTL21A_ENST00000406927.2_Silent_p.L162L|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000272839.3_Silent_p.L180L	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	162						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GATTGCTACAGAGATGTTCCA	0.403000													9	114					3.86212e-05	4.30401e-05	1	1	0
KLF6	1316	broad.mit.edu	37	10	3821778	3821778	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:3821778A>C	ENST00000497571.1	-	4	1065	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	KLF6_ENST00000542957.1_Silent_p.V227V|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	269					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACCTGGAAAAACACCTGCAA	0.582000													8	13					0	0	1	0	0
RP11-707M1.1	0	broad.mit.edu	37	11	49831886	49831886	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49831886G>T	ENST00000527477.1	+	0	2111																											AGGACAAATAGGTTCTGTTTT	0.333000													8	68					5.18039e-06	5.91835e-06	1	1	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112899207	112899207	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899207C>T	ENST00000374530.3	+	8	1563	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	PALM2-AKAP2_ENST00000302798.7_Silent_p.A461A|AKAP2_ENST00000259318.7_Silent_p.A230A|AKAP2_ENST00000510514.5_Silent_p.A461A|AKAP2_ENST00000434623.2_Silent_p.A319A|AKAP2_ENST00000374525.1_Silent_p.A319A|AKAP2_ENST00000555236.1_Silent_p.A461A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		230							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCAGCCAGGCCGTCAAGAAGA	0.512000													12	32					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218609474	218609474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:218609474C>T	ENST00000366929.4	+	6	1468	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.A306V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTGGATGCGGCCTATTGC	0.438000													39	37					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231312	2231312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2231312G>A	ENST00000343516.6	-	18	2149	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	686					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCCTCGGGGTGGGTGG	0.711000													6	1					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923629	12923629	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923629C>A	ENST00000361905.4	+	10	1462	c.797C>A	c.(796-798)cCt>cAt	p.P266H	TEAD1_ENST00000526600.1_Missense_Mutation_p.P185H|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Missense_Mutation_p.P281H|TEAD1_ENST00000361985.2_Missense_Mutation_p.P281H	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	281	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAAGGGCCCTCAAAATGCC	0.413000													16	213					3.52763e-06	4.04633e-06	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51254960	51254960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254960C>A	ENST00000404971.1	-	2	1791	c.452G>T	c.(451-453)aGc>aTc	p.S151I	NRXN1_ENST00000402717.3_Missense_Mutation_p.S151I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S151I|NRXN1_ENST00000406859.3_Missense_Mutation_p.S151I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S151I|NRXN1_ENST00000406316.2_Missense_Mutation_p.S151I|NRXN1_ENST00000405581.1_Missense_Mutation_p.S151I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAAGGCCGCTGAACACCGT	0.672000													4	16					1	1	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55362715	55362715	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55362715G>T	ENST00000536015.1	-	9	867	c.748C>A	c.(748-750)Ctc>Atc	p.L250I	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.L250I	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	250					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCTCTTTGGAGGTACTGGTCT	0.299000													4	66					5.9392e-07	6.91975e-07	1	1	0
ELL	8178	broad.mit.edu	37	19	18555662	18555662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18555662C>A	ENST00000262809.4	-	12	1837	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	589					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTTCTCCTGGCTGTAGTTGGT	0.632000			T	MLL	AL								5	42					0.014758	0.0152625	1	1	0
DSG2	1829	broad.mit.edu	37	18	29104816	29104816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29104816G>A	ENST00000261590.8	+	8	1188	c.979G>A	c.(979-981)Gct>Act	p.A327T		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	327	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACAGATGCTCAAACTAA	0.368000													20	36					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94200986	94200986	+	Missense_Mutation	SNP	C	C	T	rs140528613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94200986C>T	ENST00000323929.3	-	10	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	MRE11A_ENST00000323977.3_Missense_Mutation_p.R364Q|MRE11A_ENST00000407439.3_Missense_Mutation_p.R367Q|MRE11A_ENST00000393241.4_Missense_Mutation_p.R364Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACTCGCAGTCGTACAAGAGG	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				32	36					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586799	53586799	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53586799G>T	ENST00000025008.5	-	7	1131	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P203Q|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P203Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	203					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCCAACAGTGGAATCTTGGC	0.373000													14	140					2.32078e-09	2.82054e-09	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676598	123676598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123676598C>T	ENST00000309154.2	-	1	497	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAAACAACACAGACAGGAAG	0.498000													4	43					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17670843	17670843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17670843C>A	ENST00000399839.1	-	6	1231	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	CECR1_ENST00000262607.3_Missense_Mutation_p.G321W|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000330232.4_Missense_Mutation_p.G80W|CECR1_ENST00000449907.2_Missense_Mutation_p.G279W|CECR1_ENST00000399837.2_Missense_Mutation_p.G321W			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	321					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGTCAAACCCTGCCACCACC	0.577000													19	23					8.34094e-07	9.69005e-07	1	1	0
FUT11	170384	broad.mit.edu	37	10	75533510	75533510	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75533510A>G	ENST00000372841.3	+	2	1314	c.1271A>G	c.(1270-1272)cAc>cGc	p.H424R	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.H424R	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	424					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CAGCCCTCACACATGGACTGC	0.592000													3	69					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12963039	12963039	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12963039C>A	ENST00000251472.4	+	9	1026	c.987C>A	c.(985-987)ggC>ggA	p.G329G	MAST1_ENST00000591495.1_Silent_p.G325G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	329					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGCTGGGCCTCACCCGTG	0.672000													24	39					2.21704e-12	2.7869e-12	1	1	0
SYT3	84258	broad.mit.edu	37	19	51132654	51132654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51132654G>A	ENST00000338916.4	-	4	1811	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_ENST00000544769.1_Missense_Mutation_p.S393L|SYT3_ENST00000593901.1_Missense_Mutation_p.S393L|SYT3_ENST00000600079.1_Missense_Mutation_p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	393	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637000													10	19					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131913	207131913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207131913G>T	ENST00000324852.4	-	8	2156	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	516						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGGAAGAGAGTCATCCTG	0.527000													8	98					0.00448238	0.00472561	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74316426	74316426	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74316426T>C	ENST00000263665.6	-	20	2835	c.2808A>G	c.(2806-2808)acA>acG	p.T936T	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	936	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTATATCCTGTTACTTCTG	0.358000													6	92					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583614	10583614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583614G>A	ENST00000304501.1	-	2	879	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SOX7_ENST00000553390.1_Silent_p.G319G|SOX7_ENST00000554914.1_Silent_p.G319G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	267					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATGGAGACGCCGGGGGACT	0.677000													19	19					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55182370	55182370	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55182370A>T	ENST00000414150.2	+	25	4194	c.3916A>T	c.(3916-3918)Atg>Ttg	p.M1306L	TTC4_ENST00000371284.5_3'UTR|TTC4_ENST00000371281.3_Missense_Mutation_p.D70V					maestro heat-like repeat family member 7																		ATTATTTTTGATGAGGAGCGT	0.398000													16	25					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64664287	64664287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64664287G>A	ENST00000421419.2	-	38	5325	c.5211C>T	c.(5209-5211)gaC>gaT	p.D1737D	ATG2A_ENST00000377264.3_Silent_p.D1735D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTTGCGGATGTCCTGCAGCC	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	30					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93602428	93602428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93602428G>A	ENST00000370298.4	+	15	1915	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Silent_p.E440E|MTF2_ENST00000545708.1_Silent_p.E440E|MTF2_ENST00000370303.4_Silent_p.E485E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	542						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAGATCAGGAGTTACAACTCA	0.388000													95	66					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428881	56428881	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56428881C>T	ENST00000262032.5	+	12	1891	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	IKZF4_ENST00000547167.1_Silent_p.G508G|IKZF4_ENST00000431367.2_Silent_p.G406G|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.G463G			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	508					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TATTGCGGGGCACCCCAGGCC	0.647000													44	50					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839116	53839116	+	Missense_Mutation	SNP	G	G	A	rs142184099	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53839116G>A	ENST00000288139.3	+	46	5870	c.5752G>A	c.(5752-5754)Gtt>Att	p.V1918I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1898I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.V277I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1874I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1898					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGACTCGCCCGTTTGCTATGA	0.547000													35	50					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934696	94934696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94934696G>T	ENST00000396200.3	+	3	760	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	PDP1_ENST00000517764.1_Missense_Mutation_p.G137W|PDP1_ENST00000520728.1_Missense_Mutation_p.G137W|PDP1_ENST00000297598.4_Missense_Mutation_p.G137W	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	137					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGACCAGAGGGATGCTTTT	0.473000													6	65					0.00116845	0.00124821	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6524242	6524242	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6524242A>C	ENST00000361413.3	-	7	1539	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	KIAA0753_ENST00000572370.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000542606.1_Missense_Mutation_p.F95C	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	394						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCGATAGGAAATCTGCTCCG	0.443000													10	97					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36882013C>A	ENST00000358127.4	-	8	1074	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226W|PAX5_ENST00000520281.1_Missense_Mutation_p.G291W|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291W|PAX5_ENST00000377853.2_Missense_Mutation_p.G334W|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								8	8					0.000157383	0.00017284	1	1	0
KDM3A	55818	broad.mit.edu	37	2	86719198	86719198	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86719198G>T	ENST00000409556.1	+	27	4287	c.3922G>T	c.(3922-3924)Gtt>Ttt	p.V1308F	KDM3A_ENST00000409064.1_Missense_Mutation_p.V1308F|KDM3A_ENST00000542128.1_Missense_Mutation_p.V1256F|KDM3A_ENST00000312912.5_Missense_Mutation_p.V1308F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1308					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAAGATGCAGTTGCTATGCT	0.378000													9	20					5.4927e-09	6.6252e-09	1	1	0
CD2BP2	10421	broad.mit.edu	37	16	30364965	30364965	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30364965G>A	ENST00000305596.3	-	5	707	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CD2BP2_ENST00000569466.1_Silent_p.L178L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	178					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGGGCCCCCAGACGCCTCAGT	0.647000													6	10					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005152	155005152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155005152T>A	ENST00000368424.3	-	3	590	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	DCST2_ENST00000295536.5_Nonsense_Mutation_p.K178*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	178						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTATGTGTTTCACACCATCC	0.532000													13	58					0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637845	124637845	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124637845C>A	ENST00000526629.1	-	3	1664	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000374979.3_Missense_Mutation_p.D303Y|MSANTD2_ENST00000239614.4_Missense_Mutation_p.D251Y			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	303	Gly-rich.																CTTGAAAAGTCTGTCCAGCTC	0.388000													11	97					1.08611e-07	1.2824e-07	1	1	0
LIMD1	8994	broad.mit.edu	37	3	45714235	45714235	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45714235C>A	ENST00000273317.4	+	5	1716	c.1695C>A	c.(1693-1695)atC>atA	p.I565I	LIMD1_ENST00000440097.1_Silent_p.I565I|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	565	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTGTGTCATCTGTAATGAGT	0.527000													6	64					0.0215528	0.0221649	1	1	0
CDX4	1046	broad.mit.edu	37	X	72667386	72667386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667386C>T	ENST00000373514.2	+	1	297	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCGGTGAACGACGTGACCT	0.647000													9	18					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100515249	100515249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100515249C>T	ENST00000376360.1	+	4	470	c.443C>T	c.(442-444)gCa>gTa	p.A148V	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.A148V|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	148					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTAGTTTGCAGACAAATTT	0.358000													4	41					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	G	A	rs138254140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588282G>A	ENST00000434452.1	-	10	1627	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000360428.4_Silent_p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388000													25	30					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831193	58831193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831193C>T	ENST00000355431.3	+	20	2759	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R796*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R796*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R796*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	796					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGGAAGACGAAGCAAGAC	0.343000													9	34					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86939129	86939129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86939129G>A	ENST00000234701.3	+	3	543	c.192G>A	c.(190-192)ctG>ctA	p.L64L	CLCA1_ENST00000394711.1_Silent_p.L64L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	64					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCTGTATCTGCTTGAAGCTA	0.358000													6	115					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2578944	2578944	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2578944C>T	ENST00000261597.4	+	6	677	c.495C>T	c.(493-495)tcC>tcT	p.S165S	NDC80_ENST00000576274.1_3'UTR	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	165	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGCACTATCCAAAAGCTCCA	0.348000													7	44					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465441	23465441	+	Silent	SNP	C	C	T	rs146853897	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23465441C>T	ENST00000248996.4	+	3	1557	c.891C>T	c.(889-891)taC>taT	p.Y297Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	297						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAACACGTACGAGGAGGCCG	0.572000													13	26					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970632C>T	ENST00000369577.3	+	8	7328	c.7285C>T	c.(7285-7287)Cgg>Tgg	p.R2429W	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2424W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348000													8	13					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57274504	57274504	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57274504T>C	ENST00000288266.3	+	5	444	c.297T>C	c.(295-297)tgT>tgC	p.C99C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	99	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAGCTCTTGTCATGCAGTGC	0.343000													42	53					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213143	26213143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26213143G>A	ENST00000379034.1	+	2	1329	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	394	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507000													56	92					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016577	23016577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016577C>T	ENST00000255008.3	+	1	521	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACCCTCTGCGCGCGGCGAC	0.667000													21	27					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200916	62200916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62200916G>A	ENST00000467148.1	-	4	742	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		ACACGGAAGCGCTCACCCCGT	0.667000													6	6					0	0	1	0	0
PCDHGA12	0	broad.mit.edu	37	5	140811664	140811664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811664C>T	ENST00000252085.3	+	1	1480	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACACCAACGACAACCCGC	0.582000													11	29					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996130	2996130	+	Missense_Mutation	SNP	C	C	T	rs139391156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2996130C>T	ENST00000331459.1	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	54					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTGTGCAGGCGGGAATCAGA	0.552000													7	127					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123310926	123310926	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123310926C>T	ENST00000358487.5	-	5	774	c.502G>A	c.(502-504)Gct>Act	p.A168T	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.A79T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A168T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A168T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A53T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A79T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A168T|FGFR2_ENST00000359354.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A168T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A53T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	168	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCAGGCACAGCATGGAGCCGC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614545	179614545	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179614545T>C	ENST00000360870.5	-	46	12804	c.12582A>G	c.(12580-12582)caA>caG	p.Q4194Q	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTCCATTTTGAAACCATG	0.373000													5	70					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571787	30571787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30571787C>T	ENST00000376511.2	-	14	2058	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTGCTCACCTCTCCTTGTTCA	0.542000													9	163					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398000													24	55					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952327	14952327	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952327G>A	ENST00000248058.1	-	1	362	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCACAAACCGGTCATAGGCCA	0.478000													20	30					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640312	51640312	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640312G>C	ENST00000375695.2	+	6	1752	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N	MAGED1_ENST00000375722.1_Missense_Mutation_p.K477N|MAGED1_ENST00000375772.3_Missense_Mutation_p.K477N|MAGED1_ENST00000326587.7_Missense_Mutation_p.K477N|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	477	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGGCAAATAAGTTGGTCAAGT	0.418000										Multiple Myeloma(10;0.10)			18	35					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867416	57867416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867416G>T	ENST00000393797.2	-	20	2456	c.2264C>A	c.(2263-2265)aCt>aAt	p.T755N	ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.T684N|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.T665N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.T481N			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	684					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTACCGTAGAGTGTCATGGTT	0.502000													24	39					2.12542e-12	2.67336e-12	1	1	0
STAB1	23166	broad.mit.edu	37	3	52557070	52557070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52557070G>A	ENST00000321725.6	+	63	7016	c.6940G>A	c.(6940-6942)Gtg>Atg	p.V2314M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2314					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAATGGCTTCGTGGGTGACGG	0.597000													33	39					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171809059	171809059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171809059C>T	ENST00000311601.5	-	5	552	c.382G>A	c.(382-384)Gac>Aac	p.D128N	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128N	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	128	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCAGGTCCTCAGGTCTT	0.567000													5	10					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118439	54118439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54118439G>A	ENST00000548263.1	-	3	297	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CALCOCO1_ENST00000262059.4_Silent_p.V83V|CALCOCO1_ENST00000430117.2_Silent_p.V83V|CALCOCO1_ENST00000550804.1_Silent_p.V83V|CALCOCO1_ENST00000547885.1_5'UTR			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	83	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGGAACTGGACACTGGTGT	0.488000													4	15					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180049799	180049799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180049799G>A	ENST00000261937.6	-	12	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	FLT4_ENST00000393347.3_Missense_Mutation_p.A530V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A530V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	530	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTACATGGCAGACACGTT	0.577000													14	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438273	179438273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179438273G>A	ENST00000589042.1	-	326	72810	c.72586C>T	c.(72586-72588)Cgt>Tgt	p.R24196C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21628C|TTN_ENST00000359218.5_Missense_Mutation_p.R15256C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15323C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22555C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22555	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATGACACGGAATATGTAT	0.458000													95	136					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16782362	16782362	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782362C>A	ENST00000337132.5	+	7	807	c.717C>A	c.(715-717)atC>atA	p.I239I	NECAP2_ENST00000457722.2_Silent_p.I213I|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Silent_p.I239I|NECAP2_ENST00000504551.2_Silent_p.I178I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	239					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGACATCTGGGGAGACT	0.567000													4	40					8.12818e-05	8.99451e-05	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55328429	55328429	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55328429G>T	ENST00000536015.1	-	22	2803	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A895D|RP11-35G9.3_ENST00000592201.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	895					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACGTCATTGGCCCCATCTCC	0.567000													12	23					1.5842e-08	1.90059e-08	1	1	0
ORC1	4998	broad.mit.edu	37	1	52861730	52861730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52861730G>A	ENST00000371568.3	-	5	927	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	ORC1_ENST00000371566.1_Silent_p.L237L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	237					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAAGCTCCAGCCTCTTTCTG	0.468000													17	29					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816941	133816941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133816941G>A	ENST00000395386.2	+	8	1102	c.803G>A	c.(802-804)gGc>gAc	p.G268D	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_Missense_Mutation_p.G268D|PHF20L1_ENST00000395374.1_Missense_Mutation_p.G107D|PHF20L1_ENST00000395382.3_Missense_Mutation_p.G138D|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G243D|PHF20L1_ENST00000337920.4_Missense_Mutation_p.G242D|PHF20L1_ENST00000395376.1_Missense_Mutation_p.G273D|PHF20L1_ENST00000395379.1_Missense_Mutation_p.G268D|PHF20L1_ENST00000395383.1_Missense_Mutation_p.G272D	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	268							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATAATCAAGGCAACTCGTTT	0.383000													38	59					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973906	63973906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973906C>T	ENST00000398590.3	+	9	1820	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	ATXN7_ENST00000484332.1_Nonsense_Mutation_p.Q278*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000295900.6_Nonsense_Mutation_p.Q423*	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	423	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAGAACGTCACAGGAGCCGCA	0.532000													14	119					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316836	30316836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30316836G>T	ENST00000375377.1	-	3	2342	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	747										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGTTACGGGCACTTGGCC	0.572000													5	40					5.18039e-06	5.91835e-06	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	34987268	34987268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34987268C>T	ENST00000310974.4	-	15	1393	c.1249G>A	c.(1249-1251)Gta>Ata	p.V417I		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	417						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ACAAACACTACAAGAACAACT	0.299000													4	80					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742775	10742775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10742775C>A	ENST00000586078.1	+	10	875	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L254M|SLC44A2_ENST00000335757.5_Missense_Mutation_p.L256M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	256					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCTTCGCTTCCTGGCTGGTAT	0.552000													11	143					0.010729	0.0111717	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657000													21	48					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41306600	41306600	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41306600C>A	ENST00000593726.1	+	1	1151	c.123C>A	c.(121-123)ccC>ccA	p.P41P	EGLN2_ENST00000406058.2_Silent_p.P41P|EGLN2_ENST00000303961.4_Silent_p.P41P|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	41					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652000													4	24					0.00909568	0.00947522	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146092833	146092833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146092833C>T	ENST00000454497.2	-	3	225	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	OTUD4_ENST00000447906.2_Missense_Mutation_p.E95K|OTUD4_ENST00000509620.2_Missense_Mutation_p.E30K|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000296579.6_Missense_Mutation_p.E30K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	95							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGTGGATTTTCCAAACGCTTT	0.254000													10	25					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123025089	123025089	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123025089T>C	ENST00000371199.3	+	4	1278	c.977_splice	c.e4-1	p.C327_splice	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Splice_Site_p.C327_splice|XIAP_ENST00000355640.3_Splice_Site_p.C327_splice	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	327					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATTGTTTAGGTGCAAATATCT	0.259000									X-linked Lymphoproliferative syndrome				3	33					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951793	46951793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46951793G>A	ENST00000311124.4	-	3	611	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC19A1_ENST00000485649.2_Silent_p.A113A|SLC19A1_ENST00000380010.4_Silent_p.A153A|SLC19A1_ENST00000567670.1_Silent_p.A153A	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	153					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGAGTAGCCGGCCACACGCT	0.652000													2	1					0	0	1	0	0
SV2A	0	broad.mit.edu	37	1	149880744	149880744	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149880744C>A	ENST00000369146.3	-	8	1869	c.1379_splice	c.e8+1	p.S460_splice	SV2A_ENST00000369145.1_Splice_Site_p.S460_splice	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	460					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCTCCTCACCTGAATGACAT	0.557000													5	45					0.217242	0.218821	1	1	0
ANK3	288	broad.mit.edu	37	10	61829138	61829138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61829138A>G	ENST00000280772.1	-	37	11692	c.11501T>C	c.(11500-11502)gTa>gCa	p.V3834A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3834					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTTGTAGTACCCCTGTCTT	0.383000													17	241					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94024299	94024299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94024299G>A	ENST00000265140.5	+	17	2629	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	737										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCGGCCTTGTTTTGACTCT	0.428000													13	96					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159190828	159190828	+	Silent	SNP	G	G	A	rs145874025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190828G>A	ENST00000367075.3	-	11	1407	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	EZR_ENST00000337147.7_Silent_p.S413S|EZR_ENST00000392177.4_Silent_p.S381S	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	413	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCTCCTGGCTCTTTATCT	0.542000			T	ROS1	NSCLC								37	94					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703653	4703653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4703653G>T	ENST00000396950.3	-	2	528	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTGGGTAAGACAGGCCTCA	0.517000													5	35					1.23904e-05	1.39987e-05	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40670402	40670402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40670402G>T	ENST00000342449.3	-	5	383	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.S102Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S102Y(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388000													9	165					0.0581538	0.0593651	1	1	0
POMT1	10585	broad.mit.edu	37	9	134398374	134398374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134398374G>A	ENST00000423007.1	+	20	2501	c.2059G>A	c.(2059-2061)Gcg>Acg	p.A687T	POMT1_ENST00000341012.7_Missense_Mutation_p.A633T|POMT1_ENST00000419118.2_Missense_Mutation_p.A535T|POMT1_ENST00000372228.3_Missense_Mutation_p.A709T|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.A657T|POMT1_ENST00000402686.3_Missense_Mutation_p.A687T|POMT1_ENST00000404875.2_Missense_Mutation_p.A570T|POMT1_ENST00000541219.1_Missense_Mutation_p.A427T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	709					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTACTCCTCCGCGTGCCACGT	0.637000													9	5					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605812	171605812	+	Silent	SNP	C	C	T	rs142461632	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171605812C>T	ENST00000037502.5	-	3	827	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	256	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTTCTCAGCGTGAGAGGCT	0.478000													6	80					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395160	158395160	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158395160C>T	ENST00000243349.7	-	8	1641	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	427	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363000													31	62					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922006	24922006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922006C>T	ENST00000329468.2	+	1	1466	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S331L(1)									AGGAAAATGTCGATTCCATTG	0.582000													17	26					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710934	78710934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376767.3_Silent_p.S341S|PCSK5_ENST00000376752.4_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512000													17	32					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458711	155458711	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155458711G>A	ENST00000461783.3	+	7	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	532	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572000													16	33					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87769930	87769930	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87769930G>A	ENST00000273905.6	-	1	486	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	113						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGGTGAAAATGTTAGAGATGG	0.493000													9	109					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132636916	132636916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132636916G>T	ENST00000315480.4	+	18	1960	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	USP20_ENST00000358355.1_Missense_Mutation_p.S601I|USP20_ENST00000372429.3_Missense_Mutation_p.S601I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	601					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGATCAACAGCCACGTCTCC	0.577000													10	32					0.00136819	0.00146042	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153037429	153037429	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037429G>A	ENST00000538966.1	+	16	2968	c.2697G>A	c.(2695-2697)cgG>cgA	p.R899R	PLXNB3_ENST00000361971.5_Silent_p.R876R|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538776.1_Silent_p.R529R|PLXNB3_ENST00000538282.1_Silent_p.R486R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	876	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCCGGCCCTGCAACC	0.687000													20	20					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599927	31599927	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31599927A>G	ENST00000376033.2	+	16	3711	c.3477A>G	c.(3475-3477)cgA>cgG	p.R1159R	PRRC2A_ENST00000376007.4_Silent_p.R1159R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1159	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGTGGGCGAGTCTTCACTC	0.692000													3	34					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197702952	197702952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197702952G>A	ENST00000330198.4	+	4	423	c.401G>A	c.(400-402)cGt>cAt	p.R134H	LMLN_ENST00000482695.1_Missense_Mutation_p.R82H|LMLN_ENST00000420910.2_Missense_Mutation_p.R134H|LMLN_ENST00000332636.5_Missense_Mutation_p.R82H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	134					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTCAGGTCCGTCGACCTGCG	0.363000													19	13					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116285291	116285291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116285291C>A	ENST00000374140.2	+	18	2049	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	RGS3_ENST00000350696.5_Missense_Mutation_p.L614I|RGS3_ENST00000374136.1_Missense_Mutation_p.L240I|RGS3_ENST00000343817.5_Missense_Mutation_p.L333I|RGS3_ENST00000317613.6_Missense_Mutation_p.L502I|RGS3_ENST00000394646.3_Missense_Mutation_p.L333I	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	614					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGAACCCCCTCTACCTCCA	0.607000													11	77					0.00010058	0.000111121	1	1	0
EML1	2009	broad.mit.edu	37	14	100357548	100357548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100357548G>A	ENST00000262233.6	+	5	670	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EML1_ENST00000327921.9_Silent_p.E165E|EML1_ENST00000334192.4_Silent_p.E196E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	177						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AACCCAAGGAGCCTGTATTCA	0.443000													50	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446770	179446770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446770G>T	ENST00000589042.1	-	315	66550	c.66326C>A	c.(66325-66327)cCt>cAt	p.P22109H	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13044H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19541H|TTN_ENST00000359218.5_Missense_Mutation_p.P13169H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20468H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20468	Fibronectin type-III 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATAATAGGTTTTCTGTT	0.448000													8	144					0.000442599	0.00048047	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46331149	46331149	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46331149C>T	ENST00000245934.7	-	15	2257	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGAGTGGCGCCTCCAGCA	0.647000													42	80					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1155535	1155535	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155535G>T	ENST00000356191.2	+	4	223	c.223G>T	c.(223-225)Gcg>Tcg	p.A75S						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCCAACCCGGCGCACAACGG	0.672000													4	10					1.23904e-05	1.39987e-05	1	1	0
MSANTD1	345222	broad.mit.edu	37	4	3255043	3255043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3255043C>T	ENST00000438480.2	+	2	2177	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	MSANTD1_ENST00000510580.1_Missense_Mutation_p.P144S|MSANTD1_ENST00000507492.1_Missense_Mutation_p.P131S	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	144										endometrium(1)|lung(2)	3						TGGCAAACTGCCGGACAGCCA	0.637000													29	61					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535421	16535421	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535421C>A	ENST00000270747.3	-	2	265	c.129G>T	c.(127-129)ccG>ccT	p.P43P	ARHGEF19_ENST00000421561.1_Silent_p.P43P	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	43					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGGGCTCGGGGGCTTCA	0.672000													12	14					0.0135373	0.0140872	1	1	0
LAG3	3902	broad.mit.edu	37	12	6886956	6886956	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6886956G>T	ENST00000203629.2	+	7	1633		c.e7-1			NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3							integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCCATAGGTGCCCAACG	0.517000													6	75					3.59834e-05	4.01776e-05	1	1	0
VRK3	51231	broad.mit.edu	37	19	50500782	50500782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50500782G>A	ENST00000599538.1	-	7	1322	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	VRK3_ENST00000594948.1_Missense_Mutation_p.R220W|VRK3_ENST00000377011.2_Missense_Mutation_p.R170W|VRK3_ENST00000593919.1_Missense_Mutation_p.R220W|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601912.1_Missense_Mutation_p.R170W|VRK3_ENST00000601341.1_Missense_Mutation_p.R170W|VRK3_ENST00000594092.1_Missense_Mutation_p.R220W|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.R220W			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	220	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGGCGGCCCGCTGGAAGAAG	0.592000													16	7					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524566	73524566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73524566G>A	ENST00000339534.2	+	1	542	c.465G>A	c.(463-465)cgG>cgA	p.R155R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	155							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TACCGCTGCGGCAAATCCCGA	0.527000													16	23					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19751790	19751790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751790C>T	ENST00000332710.4	+	5	754	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	TBX1_ENST00000359500.3_Nonsense_Mutation_p.Q209*|TBX1_ENST00000329705.7_Nonsense_Mutation_p.Q209*	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	209					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GTGGATGAAGCAAATCGTGTC	0.667000													5	44					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128599	119128599	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119128599C>T	ENST00000264245.4	+	11	2434	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	634					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGCCAGAGCCGAAGCTGTGC	0.532000													4	8					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44496714	44496714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44496714C>T	ENST00000425708.2	-	2	669	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF445_ENST00000396077.2_Missense_Mutation_p.E110K			P59923	ZN445_HUMAN	zinc finger protein 445	110	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCCGGAGCTCCCCAGGCAGG	0.612000													14	34					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30914468	30914468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30914468G>A	ENST00000597505.1	-	34	4969	c.4970C>T	c.(4969-4971)cCg>cTg	p.P1657L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P395L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGTTGCTCGGCTTGACTGC	0.423000													30	66					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14135456	14135456	+	Nonsense_Mutation	SNP	G	G	T	rs147096996	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14135456G>T	ENST00000379153.3	+	5	778	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	203					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCACAAGACAGAACTGGTATG	0.488000													5	54					1	1	1	1	0
PCDHGB6	0	broad.mit.edu	37	5	140788107	140788107	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788107C>A	ENST00000520790.1	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAATCCTTTAAATATT	0.383000													12	89					0.0202918	0.0209785	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86198665	86198665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86198665A>G	ENST00000361228.3	-	2	1491	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	375					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACTGGCACCCATCTTTG	0.393000													42	121					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64527346	64527346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64527346C>A	ENST00000164139.3	-	1	423	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.E9*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTCTTTTCTCTTGGTCTGAC	0.592000													7	87					0.000157383	0.00017284	1	1	0
IQCF1	132141	broad.mit.edu	37	3	51937000	51937000	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51937000C>T	ENST00000310914.5	-	2	171		c.e2+1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCCTCCTACCTCTGCCTTT	0.493000													29	267					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55663126	55663126	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55663126A>G	ENST00000373965.2	-	27	3793	c.3399T>C	c.(3397-3399)aaT>aaC	p.N1133N	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.N737N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.N1133N|PCDH15_ENST00000395432.2_Silent_p.N1089N|PCDH15_ENST00000361849.3_Silent_p.N1126N|PCDH15_ENST00000320301.6_Silent_p.N1126N|PCDH15_ENST00000395430.1_Silent_p.N1126N|PCDH15_ENST00000437009.1_Silent_p.N1055N|PCDH15_ENST00000395438.1_Silent_p.N1126N|PCDH15_ENST00000395433.1_Silent_p.N1104N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.N1131N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1126	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTAGCTGTATTGCCTGGAG	0.358000										HNSCC(58;0.16)			4	70					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839254	100839254	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839254G>A	ENST00000379423.3	-	6	856	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	MOGAT3_ENST00000223114.4_Silent_p.P333P|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGTGGAAGCGGGGACCCCAC	0.632000													22	83					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32691602	32691602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32691602A>C	ENST00000380250.3	+	4	952	c.456A>C	c.(454-456)aaA>aaC	p.K152N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAATAAATCAAAAAGGT	0.333000													8	66					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894525	23894525	+	Missense_Mutation	SNP	C	C	T	rs3218716	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894525C>T	ENST00000355349.3	-	21	2551	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	797	IQ.		A -> T (in CMH1; dbSNP:rs3218716).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATTCTGGCGAGCACACCT	0.597000													19	28					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358812	178358812	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178358812C>A	ENST00000361362.2	+	5	1028	c.498C>A	c.(496-498)gcC>gcA	p.A166A	ZFP2_ENST00000503510.2_Silent_p.A166A|ZFP2_ENST00000523286.1_Silent_p.A166A|ZFP2_ENST00000520301.1_Silent_p.A166A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGGGAAAGCCTTTAGTCAGA	0.403000													4	39					0.00909568	0.00947522	1	1	0
RERG	85004	broad.mit.edu	37	12	15262092	15262092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15262092C>T	ENST00000256953.2	-	5	888	c.552G>A	c.(550-552)acG>acA	p.T184T	RERG_ENST00000538313.1_Silent_p.T184T|RERG_ENST00000536465.1_Silent_p.T184T|RERG_ENST00000546331.1_Silent_p.T165T	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTTGACATGCGTGGTGGAGC	0.517000													8	99					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98165092	98165092	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98165092C>A	ENST00000357947.3	-	10	1390		c.e10-1		TLL2_ENST00000469598.1_Splice_Site	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTAATACGATCTGTAAAGAAT	0.433000													11	71					0.000673444	0.000724755	1	1	0
PAH	5053	broad.mit.edu	37	12	103310897	103310897	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:103310897C>T	ENST00000553106.1	-	1	484	c.12G>A	c.(10-12)gcG>gcA	p.A4A	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	4					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCCAGGACCGCAGTGGACA	0.577000													16	30					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772771	113772771	+	Missense_Mutation	SNP	C	C	T	rs149779477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772771C>T	ENST00000375581.3	+	9	885	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	F7_ENST00000346342.3_Missense_Mutation_p.R262W|F7_ENST00000541084.1_Missense_Mutation_p.R215W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	284	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCAGAGCCGGCGGGTGGCGCA	0.682000													26	36					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47098481	47098481	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47098481G>T	ENST00000377107.2	+	2	543	c.189G>T	c.(187-189)gaG>gaT	p.E63D	USP11_ENST00000218348.3_Missense_Mutation_p.E106D			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	106					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCTTGTGGAGAAGCACTGGT	0.527000													3	18					6.4e-05	7.11719e-05	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46744668	46744668	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46744668T>G	ENST00000394809.4	-	11	2263	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	MYLK3_ENST00000536476.1_Silent_p.T375T|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCTGCATCTGTTTCCCCTA	0.478000													44	115					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330479	5330479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5330479C>T	ENST00000396872.2	+	3	447	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96Y|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96Y	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	96					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGACTACCTGCATCACAAGTA	0.627000													9	71					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811107	39811107	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39811107A>G	ENST00000216160.6	+	2	192	c.130A>G	c.(130-132)Act>Gct	p.T44A	TAB1_ENST00000331454.3_Missense_Mutation_p.T44A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	44					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGCAAGGGCACTGAGAGCCA	0.602000													4	26					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	429983	429983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:429983C>T	ENST00000280886.6	-	16	1947	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	DIP2C_ENST00000381496.3_Silent_p.A513A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	620						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGCGCCGTCCGCCACTATCA	0.522000													4	35					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65960372	65960372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65960372A>C	ENST00000443035.3	-	28	5089	c.4874T>G	c.(4873-4875)tTt>tGt	p.F1625C	DENND4A_ENST00000431932.2_Missense_Mutation_p.F1582C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCCATTGGAAATATTGGACA	0.413000													4	55					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472858	27472858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27472858C>T	ENST00000356183.4	-	37	6158	c.6143G>A	c.(6142-6144)cGg>cAg	p.R2048Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2023Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2048						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCGCTTCCGGATGCAGCC	0.587000													5	87					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263238	39263238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39263238C>T	ENST00000280481.7	+	1	1973	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	586					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCTGAGTGCAACTGACATG	0.542000													11	34					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86273327	86273327	+	Silent	SNP	C	C	T	rs61739454	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:86273327C>T	ENST00000372088.2	+	10	2633	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000224756.8_3'UTR					coiled-coil serine-rich protein 2																		TGCATCAGGGCGGTGCACATC	0.498000													12	18					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444346	150444346	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150444346T>G	ENST00000401000.4	+	10	2909	c.2844T>G	c.(2842-2844)ctT>ctG	p.L948L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000369068.4_Silent_p.L974L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	974	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCGTTCCCTTTTCTCTCCGC	0.567000													107	251					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111118375	111118375	+	Silent	SNP	C	C	T	rs148709279	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111118375C>T	ENST00000360467.5	+	26	2310	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	668	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGAAAAGGGCCGTTGGAGGTG	0.512000													24	30					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884336	24884336	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24884336C>T	ENST00000382554.3	+	9	3699	c.3381C>T	c.(3379-3381)gaC>gaT	p.D1127D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAAGCCTGACTGGCAGTGGG	0.627000													12	16					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150665	132150665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132150665C>T	ENST00000378693.2	+	1	1633	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	451																	GAGCCAGATGCGACCGGTGGT	0.687000													4	1					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53279639	53279639	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53279639C>T	ENST00000566029.1	+	15	3540	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CHD9_ENST00000447540.1_Missense_Mutation_p.R1111W|CHD9_ENST00000398510.3_Missense_Mutation_p.R1111W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1111W			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1111					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAATACTACCGGGCTATCTT	0.358000													15	36					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16631278	16631278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16631278G>A	ENST00000546361.2	-	14	2393	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C	CHERP_ENST00000198939.6_Missense_Mutation_p.R759C|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	748	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.R748C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GAGGAAGAACGCCCTCGACTC	0.622000													20	141					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122681480	122681480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122681480G>T	ENST00000337677.5	-	6	920	c.362C>A	c.(361-363)tCa>tAa	p.S121*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.S121*|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.S121*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	121						extracellular region				breast(1)|lung(5)	6						agtagccaatgacacagttct	0.413000													15	20					7.93312e-07	9.21973e-07	1	1	0
TCERG1L	256536	broad.mit.edu	37	10	132891569	132891569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:132891569C>A	ENST00000368642.4	-	12	1702	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	539	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGCAAACTCCTTAAACGTGG	0.473000													30	48					5.90632e-09	7.12364e-09	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5778489	5778489	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778489C>T	ENST00000381624.3	+	22	2260	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	733						integral to membrane											TCTCCAGCATCCTGGGGTCCG	0.562000													20	31					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564673	102564673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102564673C>T	ENST00000536889.1	-	3	685	c.328G>A	c.(328-330)Gca>Aca	p.A110T	BEX2_ENST00000372677.3_Missense_Mutation_p.A78T|BEX2_ENST00000372674.1_Missense_Mutation_p.A78T	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	78					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						CTCATCCTTGCCTGTGGCTCT	0.512000													18	188					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30004867	30004867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30004867G>A	ENST00000564026.1	-	5	519	c.482C>T	c.(481-483)cCt>cTt	p.P161L	HIRIP3_ENST00000279392.3_Silent_p.L474L	NM_001197323.1	NP_001184252.1	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTCCCTAGGGAAGGGGTA	0.632000													17	34					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236143157	236143157	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236143157G>A	ENST00000264187.6	-	18	3556	c.3474C>T	c.(3472-3474)agC>agT	p.S1158S	NID1_ENST00000366595.3_Silent_p.S1025S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1158					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTTCCCGTAGCTCGTCACAG	0.597000													22	46					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137233	40137233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137233G>T	ENST00000278198.2	-	2	2573	c.610C>A	c.(610-612)Ctt>Att	p.L204I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L204I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	204					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACATGGCAAGGTTCAAATAC	0.453000													29	69					1.88708e-17	2.44853e-17	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29184017	29184017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29184017A>T	ENST00000321990.4	+	8	3058	c.2680A>T	c.(2680-2682)Act>Tct	p.T894S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	894					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTCTTAACTAAATTTAA	0.308000													6	38					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159084380	159084380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159084380C>T	ENST00000297239.9	+	3	274	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.A27V			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	27	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGACCAGGCGGTTCAAAAC	0.557000													16	23					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131502228	131502228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131502228C>T	ENST00000291900.2	-	13	2430	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	675					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.R675Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582000													21	32					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875496	875496	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:875496A>G	ENST00000316157.3	-	10	994	c.954T>C	c.(952-954)ttT>ttC	p.F318F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	318							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTTTGGCAAAAATGTGTTTA	0.428000													6	47					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61549094	61549094	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61549094C>A	ENST00000278836.5	+	22	2910	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	MYRF_ENST00000265460.5_Silent_p.S903S|MYRF_ENST00000389602.4_Silent_p.S329S|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GAGCCAAGTCCTGGGGTCTTT	0.597000													8	84					5.18039e-06	5.91835e-06	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31133788	31133788	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31133788G>A	ENST00000349752.5	-	15	2277	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	GALNT14_ENST00000356174.3_Silent_p.H513H|GALNT14_ENST00000420311.2_Silent_p.H511H|GALNT14_ENST00000324589.5_Silent_p.H551H|GALNT14_ENST00000406653.1_Silent_p.H526H|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	546	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCATGTCCCAGTGCTGGCTCA	0.572000													20	38					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26536733	26536733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26536733G>T	ENST00000333478.6	-	5	1156	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	GPR113_ENST00000541401.1_De_novo_Start_InFrame|GPR113_ENST00000421160.2_Missense_Mutation_p.L322M|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L391M	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGCCAGCACAAAGCAC	0.592000													4	47					0.00024832	0.0002712	1	1	0
LUZP1	7798	broad.mit.edu	37	1	23419182	23419182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23419182C>T	ENST00000302291.4	-	4	2374	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	LUZP1_ENST00000314174.5_Missense_Mutation_p.G525S|LUZP1_ENST00000374623.3_Missense_Mutation_p.G525S|LUZP1_ENST00000418342.1_Missense_Mutation_p.G525S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	525						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCTCTACCCAATGGGTCA	0.532000													20	146					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1731227	1731227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1731227G>A	ENST00000305513.7	-	2	229	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	21							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGAACAGACGTCGGGAGTGA	0.398000													24	36					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24006638	24006638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24006638G>T	ENST00000312521.4	+	6	1636	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	439					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACCTTTTAAAGGCTGGGACTT	0.388000													13	133					6.31663e-08	7.49729e-08	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263486	34263486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34263486G>A	ENST00000262622.3	+	4	1551	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	CHST8_ENST00000434302.1_Missense_Mutation_p.V265M|CHST8_ENST00000438847.2_Missense_Mutation_p.V265M	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	265					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGAGGCTGGTGTCCGCCTT	0.622000													6	44					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154125288	154125288	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154125288A>G	ENST00000368559.3	-	2	335	c.264T>C	c.(262-264)tgT>tgC	p.C88C	NUP210L_ENST00000271854.3_Silent_p.C88C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	88						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTTTTGGGAACACAAGGTGC	0.413000													31	40					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562841	179562841	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179562841G>T	ENST00000444136.1	+	3	729	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TDRD5_ENST00000367614.1_Missense_Mutation_p.R160I|TDRD5_ENST00000294848.8_Missense_Mutation_p.R160I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	160	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGCCAAAAGATTTGGACGA	0.418000													11	151					1.08611e-07	1.2824e-07	1	1	0
ALS2CR12	130540	broad.mit.edu	37	2	202153498	202153498	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202153498C>A	ENST00000405148.2	-	15	1661	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.K406N|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K383N|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K383N	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	406					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGAAATTATCTTTTGCCTGT	0.378000													21	34					4.96729e-08	5.9048e-08	1	1	0
C5orf24	134553	broad.mit.edu	37	5	134190879	134190879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134190879A>G	ENST00000394976.3	+	2	517	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	C5orf24_ENST00000504727.1_Missense_Mutation_p.T97A|C5orf24_ENST00000338051.4_Missense_Mutation_p.T97A|C5orf24_ENST00000435259.2_Missense_Mutation_p.T97A	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	97										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGGGAACCACCAAATCAGC	0.493000													18	53					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145221	16145221	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145221T>C	ENST00000349606.4	+	5	882	c.378T>C	c.(376-378)ctT>ctC	p.L126L	MYLIP_ENST00000356840.3_Silent_p.L307L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	307	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATTAACCTTGGCAAGAAAT	0.463000													46	63					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171969176	171969176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171969176C>T	ENST00000336824.4	+	6	734	c.635C>T	c.(634-636)tCt>tTt	p.S212F	FNDC3B_ENST00000415807.2_Missense_Mutation_p.S212F|FNDC3B_ENST00000416957.1_Missense_Mutation_p.S212F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	212				S -> A (in Ref. 1; BAC53727).		endoplasmic reticulum|integral to membrane		p.S212delS(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCCTTCTTCTATCTACAAA	0.537000													10	23					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119176890	119176890	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119176890T>G	ENST00000319172.5	-	3	731	c.311A>C	c.(310-312)aAt>aCt	p.N104T	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	104						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGCAGGATGATTGTAAGGATA	0.373000													12	97					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33163271	33163271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33163271C>T	ENST00000323959.4	-	3	306	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CSTF3_ENST00000431742.2_3'UTR|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Missense_Mutation_p.R88H|CSTF3_ENST00000438862.2_Missense_Mutation_p.R56H	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	56					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCAACAAGGCGTTCATAAGT	0.343000													14	23					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78317077	78317077	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78317077G>A	ENST00000582970.1	+	27	6278	c.6135G>A	c.(6133-6135)gcG>gcA	p.A2045A	RNF213_ENST00000336301.6_Silent_p.A118A|RNF213_ENST00000508628.2_Silent_p.A2094A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTGGATGCGCAGTATCAGA	0.562000													12	10					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1713084	1713084	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1713084C>T	ENST00000313871.3	+	2	925	c.729C>T	c.(727-729)ggC>ggT	p.G243G	AKAP17A_ENST00000381261.3_Silent_p.G243G	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	243	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGTACAAGGGCGAGGACGGCA	0.622000													7	73					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19048416	19048416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19048416G>A	ENST00000545799.1	-	6	869	c.669C>T	c.(667-669)gtC>gtT	p.V223V	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000263196.7_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	0	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCAGGGTACCGACACATGGGC	0.522000													5	8					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52289367	52289367	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52289367A>C	ENST00000354831.7	-	9	1521	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.S312S|NRD1_ENST00000544028.1_Silent_p.S244S|NRD1_ENST00000352171.7_Silent_p.S376S	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	375					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCATGTAATGAGAAGAGTAGT	0.368000													5	95					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70354681	70354681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70354681C>A	ENST00000333646.6	+	35	5045	c.4846C>A	c.(4846-4848)Ctg>Atg	p.L1616M	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.L1616M|MED12_ENST00000374080.3_Missense_Mutation_p.L1616M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1616	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATACATGAACCTGGCGAAGAA	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	48					0.014758	0.0152625	1	1	0
DAPK3	1613	broad.mit.edu	37	19	3964928	3964928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964928T>C	ENST00000545797.2	-	3	367	c.124A>G	c.(124-126)Aag>Gag	p.K42E	DAPK3_ENST00000301264.3_Missense_Mutation_p.K42E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	42	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATGAACTTGGCTGCGTAC	0.667000													8	40					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576966	28576966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28576966C>A	ENST00000434452.1	-	15	2438	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	DSC3_ENST00000360428.4_Missense_Mutation_p.G762C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACAAAAACCTTGGCTAGAG	0.413000													5	42					0.00116845	0.00124821	1	1	0
MMP3	4314	broad.mit.edu	37	11	102709846	102709846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102709846A>G	ENST00000299855.5	-	7	1320	c.1064T>C	c.(1063-1065)tTt>tCt	p.F355S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	355	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTACCTTTAAAAATGAAAAC	0.368000													7	68					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72345413	72345413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72345413C>T	ENST00000389916.4	+	10	1276	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	380					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACTCAAGCGCAAGATTGA	0.632000													10	20					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	C	T	rs148645131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44701410C>T	ENST00000396056.2	+	4	1790	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R359*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	519					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498000													29	33					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827318	7827318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7827318G>A	ENST00000303790.2	-	11	894	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	299						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTGGGACTCGCCCATCATAC	0.552000													11	15					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291821	56291821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56291821C>A	ENST00000374928.3	+	4	776	c.290C>A	c.(289-291)cCt>cAt	p.P97H	KLF8_ENST00000468660.1_Missense_Mutation_p.P97H	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCCAAGGCTCCTCTCCAGCCT	0.532000													4	32					0.150653	0.152692	1	1	0
ZNF341	84905	broad.mit.edu	37	20	32379026	32379026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32379026C>T	ENST00000375200.1	+	15	2633	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C749C|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCGCAGTTGCGGCAGTGGTG	0.682000													9	16					0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2729415	2729415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729415G>A	ENST00000426774.1	+	9	674	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	XG_ENST00000381174.5_Missense_Mutation_p.V150M|XG_ENST00000419513.2_Missense_Mutation_p.V165M	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	150						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATCGTATCCGTGGTGGTGGT	0.453000													4	22					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78022390	78022390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78022390C>A	ENST00000397545.4	+	5	712	c.685C>A	c.(685-687)Cca>Aca	p.P229T	CCDC40_ENST00000374876.4_Missense_Mutation_p.P229T|CCDC40_ENST00000374877.3_Missense_Mutation_p.P229T|CCDC40_ENST00000269318.5_Missense_Mutation_p.P229T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	229					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGATCCCCCCAGGGGTGCC	0.617000													5	18					1.23904e-05	1.39987e-05	1	1	0
ATR	545	broad.mit.edu	37	3	142281097	142281097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142281097G>A	ENST00000350721.4	-	4	1268	c.1147C>T	c.(1147-1149)Ctt>Ttt	p.L383F	ATR_ENST00000383101.3_Missense_Mutation_p.L383F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	383					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAATTCCAAGCACATCCAAA	0.333000								Other conserved DNA damage response genes					18	29					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134743096	134743096	+	Missense_Mutation	SNP	C	C	T	rs139176367	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134743096C>T	ENST00000368585.3	-	9	1417	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron			Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AACCACGGACCGAAGCCCTGG	0.532000													22	34					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710385	71710385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71710385C>T	ENST00000393524.2	-	8	2169	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	PHLPP2_ENST00000567016.1_Missense_Mutation_p.G514D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000568954.1_Missense_Mutation_p.G479D			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	479						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAGGGAAAAGCCACTGAGTGT	0.502000													14	26					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782137	62782137	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62782137G>T	ENST00000336232.2	-	2	429	c.294C>A	c.(292-294)ggC>ggA	p.G98G	SLC22A8_ENST00000545207.1_Silent_p.G7G|SLC22A8_ENST00000430500.2_Silent_p.G98G|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.G98G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	98					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGTAGACCCAGCCATCCAGGC	0.597000													6	136					0.0293803	0.0301098	1	1	0
SUGT1	10910	broad.mit.edu	37	13	53227196	53227196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53227196C>A	ENST00000310528.7	+	2	109	c.54C>A	c.(52-54)ttC>ttA	p.F18L	SUGT1_ENST00000343788.6_Missense_Mutation_p.F18L|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	18					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TCCAGAGCTTCTCGGATGCCC	0.522000											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	68					6.97489e-18	9.07097e-18	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632000													7	64					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478000										HNSCC(10;0.0054)			46	69					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55445085	55445085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55445085C>T	ENST00000446217.1	-	10	2980	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	NLRP7_ENST00000448121.2_Missense_Mutation_p.E804K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E832K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E832K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E832K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E832K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E804K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	832							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAACTGGCTTCTGTAAGACGA	0.473000													22	43					0	0	1	0	0
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622000													37	59					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733613	81733613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81733613C>T	ENST00000327835.3	-	2	448	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	73						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTACCTTGCTGGAGGAACA	0.448000													94	144					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81388172	81388172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81388172G>A	ENST00000248272.3	+	3	607	c.445G>A	c.(445-447)Gtt>Att	p.V149I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	149	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTCCATCACGTTCATTACCT	0.458000													34	124					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31654373	31654373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31654373C>T	ENST00000331728.4	+	3	327	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000340552.4_Silent_p.F50F|LIMK2_ENST00000333611.4_Silent_p.F50F|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	71						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTGGGGAGTTCTGTCATGGGT	0.517000													30	35					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100202908	100202908	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100202908G>A	ENST00000325103.6	-	3	323	c.90C>T	c.(88-90)ttC>ttT	p.F30F	HPS1_ENST00000361490.4_Silent_p.F30F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.F30F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	30					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGACTGCCCGAACTTCAGCC	0.557000									Hermansky-Pudlak syndrome				32	59					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113831667	113831667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:113831667C>A	ENST00000512097.3	+	9	2546	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	KCNN2_ENST00000503706.1_Missense_Mutation_p.L162M|KCNN2_ENST00000264773.3_Missense_Mutation_p.L510M|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	510						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATTGTTACCCTGGAAACAAA	0.448000													9	101					7.48243e-07	8.70085e-07	1	1	0
SDR9C7	121214	broad.mit.edu	37	12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562000													6	65					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68252589	68252589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68252589G>A	ENST00000347230.4	-	18	3428	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1097V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1097					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTAGTGCCTCTCTCAG	0.542000													152	257					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179141	58179141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58179141C>T	ENST00000483681.1	-	9	1311	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V214I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V244I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V244I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	244					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAGAACTGACGATTTCTTGT	0.438000													23	33					0	0	1	0	0
CSNK2B-LY6G5B-1181	0	broad.mit.edu	37	6	31634614	31634614	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31634614C>T	ENST00000375880.2	+	2	124	c.6C>T	c.(4-6)agC>agT	p.S2S	CSNK2B_ENST00000375866.2_Silent_p.S2S|CSNK2B_ENST00000375885.4_Silent_p.S21S|CSNK2B_ENST00000375865.2_Silent_p.S2S|CSNK2B_ENST00000375882.2_Silent_p.S2S																							TGAAGATGAGCAGCTCAGAGG	0.512000													4	29					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170102422	170102422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170102422C>T	ENST00000458537.3	+	3	2007	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SKIL_ENST00000413427.2_Intron|SKIL_ENST00000426052.2_Missense_Mutation_p.S413F|SKIL_ENST00000259119.4_Missense_Mutation_p.S433F	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCAAGTAAGTCCATATCAAGA	0.403000													8	95					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67914878	67914878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67914878G>A	ENST00000358933.5	+	18	2755	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	839					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGACCTGCAGCACCCTGGCA	0.582000													32	52					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251226	171251226	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251226T>G	ENST00000354841.4	+	6	1068	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	FMO1_ENST00000402921.2_Missense_Mutation_p.F250V|FMO1_ENST00000367750.3_Missense_Mutation_p.F313V|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	313					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTGTCATATTTAACAATAC	0.408000													17	63					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6452454	6452454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6452454G>A	ENST00000428902.2	-	12	1433	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	DAGLB_ENST00000436575.1_Silent_p.C478C|DAGLB_ENST00000297056.6_Silent_p.C519C|DAGLB_ENST00000425398.2_Silent_p.C390C			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGGTTTATTGCAGTGCGCGA	0.572000													3	6					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140589847	140589847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140589847C>T	ENST00000239450.2	+	1	1557	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	PCDHB12_ENST00000541609.1_Silent_p.Y119Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		456	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTCCTACGCCCTGTTCG	0.612000													32	34					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6442163	6442163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6442163G>A	ENST00000301454.4	-	10	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_ENST00000414491.2_Silent_p.I171I|SLC25A23_ENST00000601760.1_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	410					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.I410I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667000													5	1					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90586220	90586220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90586220C>T	ENST00000375883.3	-	3	526	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	CDK20_ENST00000375871.4_Missense_Mutation_p.G74S|CDK20_ENST00000336654.5_Missense_Mutation_p.G87S|CDK20_ENST00000325303.8_Missense_Mutation_p.G74S|CDK20_ENST00000605159.1_Missense_Mutation_p.G74S	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	74	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGCCTCCACCGTGTGGGAAC	0.592000													7	15					0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123952957	123952957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123952957G>A	ENST00000373840.4	-	4	396	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	53					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418000													17	32					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50853068	50853068	+	Missense_Mutation	SNP	C	C	T	rs145732437		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50853068C>T	ENST00000359139.3	+	5	896	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	PPP6R2_ENST00000216061.5_Missense_Mutation_p.R168C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R168C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R168C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	168						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCTGCTGCTGCGCCTGGTCAG	0.602000													15	25					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638021	12638021	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638021T>A	ENST00000339282.7	-	4	1097	c.901A>T	c.(901-903)Att>Ttt	p.I301F	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGTGCCTAATCATATGACTT	0.383000													16	39					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654159	61654159	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61654159T>C	ENST00000423902.2	+	2	647	c.168T>C	c.(166-168)caT>caC	p.H56H	CHD7_ENST00000525508.1_Silent_p.H56H|CHD7_ENST00000524602.1_Silent_p.H56H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	56					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTCATCATCCTTCAACTA	0.413000													4	17					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729638	196729638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196729638C>T	ENST00000312428.6	-	41	6841	c.6741G>A	c.(6739-6741)gaG>gaA	p.E2247E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2247					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTGAAAAAGCTCATGAAAAT	0.393000													32	58					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29801769	29801769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29801769G>A	ENST00000375398.2	-	19	3860	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SVIL_ENST00000355867.4_Silent_p.S1137S|SVIL_ENST00000535393.1_Silent_p.S35S|SVIL_ENST00000375400.3_Silent_p.S711S			O95425	SVIL_HUMAN	supervillin	1137					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTCCTCCCCGCTTTTCTTCA	0.552000											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	47					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905279	37905279	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37905279C>A	ENST00000316950.6	-	6	838	c.281G>T	c.(280-282)aGa>aTa	p.R94I	ZNF569_ENST00000592490.1_Missense_Mutation_p.D20Y|ZNF569_ENST00000392149.2_Missense_Mutation_p.R94I|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAAAAGTCTGTCCTGGTT	0.313000													22	51					6.44725e-10	7.89499e-10	1	1	0
ZNF608	57507	broad.mit.edu	37	5	123982844	123982844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123982844A>G	ENST00000306315.5	-	4	3668	c.3233T>C	c.(3232-3234)cTt>cCt	p.L1078P	ZNF608_ENST00000504926.1_Missense_Mutation_p.L651P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1078						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCATAATAAAGTGACTGAGC	0.483000													21	34					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124377281	124377281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124377281C>T	ENST00000360013.3	+	42	6164	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	KALRN_ENST00000459915.1_Missense_Mutation_p.R105W|KALRN_ENST00000428018.2_Missense_Mutation_p.R284W|KALRN_ENST00000291478.4_Missense_Mutation_p.R316W|KALRN_ENST00000393496.1_Missense_Mutation_p.R354W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2012	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTTCAGGAGCGGAAGCTGCA	0.507000													31	59					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096635	36096635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36096635G>T	ENST00000258840.6	-	34	5531	c.5141C>A	c.(5140-5142)aCt>aAt	p.T1714N	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1667N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1680N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1667N			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1667	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTGGTACAGTTTCTCTAAA	0.393000													58	84					7.41606e-26	9.87284e-26	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18022853	18022853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18022853G>A	ENST00000205890.5	+	2	1077	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	247	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACTACTACGACCGGCAGTC	0.647000													8	29					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513511	109513511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109513511C>T	ENST00000409271.1	-	12	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	EDAR_ENST00000376651.1_Missense_Mutation_p.R432H|EDAR_ENST00000258443.2_Missense_Mutation_p.R400H			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGTGCTGATGCGGTCAAAGAG	0.567000													8	22					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27074552	27074552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074552G>A	ENST00000480456.1	+	6	1218	c.668G>A	c.(667-669)cGc>cAc	p.R223H	JAM2_ENST00000312957.5_Missense_Mutation_p.R223H|JAM2_ENST00000400532.1_Missense_Mutation_p.R223H|JAM2_ENST00000425221.2_Missense_Mutation_p.R187H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTTGGATATCGCAGGTGTCCT	0.398000													13	19					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422631	44422631	+	Silent	SNP	G	G	A	rs149546323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44422631G>A	ENST00000372343.3	+	5	1916	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	418					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACGAGAAGGAGCAGTTCCGAA	0.512000													15	31					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698006	17698006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17698006G>A	ENST00000353383.1	+	3	2213	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	RAI1_ENST00000261641.6_Missense_Mutation_p.D582N	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	582						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTGCCGCTCGACAGCTTCTC	0.637000													6	61					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796192	4796192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4796192A>G	ENST00000266544.5	+	11	1072	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.E110G	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AAGGCCATTGAGGTGCTGCGG	0.517000													3	25					0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155731	231155731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231155731C>A	ENST00000366654.4	-	2	467	c.433G>T	c.(433-435)Gag>Tag	p.E145*	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	145										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTCCTCCTCTTCATCGAAG	0.592000													9	77					3.07112e-06	3.52574e-06	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53219140	53219140	+	Translation_Start_Site	SNP	C	C	T	rs146379839	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53219140C>T	ENST00000453741.2	-	0	272				ZNF611_ENST00000319783.1_Missense_Mutation_p.R3H|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H|ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H	NM_001161501.1	NP_001154973.1	Q8N823	ZN611_HUMAN	zinc finger protein 611						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428000													10	200					0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226234	29226234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29226234G>A	ENST00000581216.1	-	4	1657	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	346					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GCAATAGCTTGTAATAATGAA	0.353000													74	99					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48663861	48663861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48663861G>A	ENST00000334136.5	+	5	506	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HDAC6_ENST00000413163.2_Missense_Mutation_p.E55K|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.E124K|HDAC6_ENST00000376619.2_Missense_Mutation_p.E110K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	110	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGGCCCTGAGCGGCTCCA	0.592000													10	15					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158753738	158753738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158753738G>T	ENST00000231228.2	-	2	508	c.53C>A	c.(52-54)tCt>tAt	p.S18Y		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	18					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGAGGGGAGATGCCAGAAA	0.507000													17	25					7.41877e-09	8.93215e-09	1	1	0
KIAA2013	90231	broad.mit.edu	37	1	11983416	11983416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983416G>T	ENST00000376572.3	-	2	1349	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	KIAA2013_ENST00000376576.3_Missense_Mutation_p.D388E	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	388						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCATCTGGTCTCGCTCCC	0.642000													5	42					0.014758	0.0152625	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43338295	43338295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43338295C>A	ENST00000380486.3	-	5	880	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C2CD2_ENST00000329623.7_Missense_Mutation_p.K58N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	213						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAAGATGTCCTTGAGAACGT	0.507000													19	29					3.51602e-12	4.4132e-12	1	1	0
SNHG14	0	broad.mit.edu	37	15	25351672	25351672	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25351672C>T	ENST00000546682.1	+	0	3911				SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTGCCTGGATCGATGATGACT	0.458000													10	38					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39239384	39239384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39239384G>T	ENST00000426016.1	-	15	2359	c.2273C>A	c.(2272-2274)cCt>cAt	p.P758H	SOS1_ENST00000395038.2_Missense_Mutation_p.P758H|SOS1_ENST00000402219.2_Missense_Mutation_p.P758H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	758					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AACTGTGGGAGGTGAACTCTG	0.393000									Noonan syndrome				5	101					1.23904e-05	1.39987e-05	1	1	0
BAG4	9530	broad.mit.edu	37	8	38065263	38065263	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38065263T>A	ENST00000287322.4	+	3	883	c.612T>A	c.(610-612)gtT>gtA	p.V204V	BAG4_ENST00000432471.2_Silent_p.V168V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	204					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGGCAGGTTCCAGGATATC	0.483000													4	54					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136045702	136045702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136045702C>T	ENST00000471595.1	+	11	1166	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	PCCB_ENST00000466072.1_Missense_Mutation_p.A403V|PCCB_ENST00000469217.1_Missense_Mutation_p.A403V|PCCB_ENST00000251654.4_Missense_Mutation_p.A383V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000490504.1_Missense_Mutation_p.A326V|PCCB_ENST00000482086.1_Missense_Mutation_p.A267V|PCCB_ENST00000462637.1_Missense_Mutation_p.A360V|PCCB_ENST00000483687.1_Missense_Mutation_p.A364V|PCCB_ENST00000468777.1_Missense_Mutation_p.A414V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	383	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTCTGTGATGCATTCAATATT	0.428000													53	86					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6180463	6180463	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6180463C>A	ENST00000261405.5	-	10	1410	c.1156_splice	c.e10+1	p.G386_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	386					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCGCCTACCTGGACATTCT	0.547000													5	35					0.0215528	0.0221649	1	1	0
BMP1	649	broad.mit.edu	37	8	22051656	22051656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22051656G>T	ENST00000306385.5	+	10	1936	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	BMP1_ENST00000397816.3_Missense_Mutation_p.W422C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.W422C|BMP1_ENST00000306349.8_Missense_Mutation_p.W422C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	422	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCAATTGGGTTGGAAAGG	0.577000													5	65					0.000602214	0.000649039	1	1	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260186	71260186	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71260186C>A	ENST00000528743.2	+	1	721	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	161	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GATGCTGTGTCCCTGTGTGCT	0.567000													10	117					0.000978159	0.00105116	1	1	0
MYH7	4625	broad.mit.edu	37	14	23892915	23892915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23892915C>A	ENST00000355349.3	-	24	3102	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	980					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCATCTCCTCTGTCAGGT	0.552000													6	131					0.00116845	0.00124821	1	1	0
C10orf76	79591	broad.mit.edu	37	10	103784949	103784949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103784949C>A	ENST00000370033.4	-	6	590	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	157						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GACATAAACTCTTCAGACTTT	0.393000													42	72					6.27289e-28	8.37919e-28	1	1	0
DOCK8	81704	broad.mit.edu	37	9	441969	441969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:441969C>A	ENST00000432829.2	+	42	5562	c.5246C>A	c.(5245-5247)cCt>cAt	p.P1749H	DOCK8_ENST00000469391.1_Missense_Mutation_p.P1717H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1284H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P1817H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1817	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAGAGCCTGCAATTACC	0.423000													11	68					6.40141e-05	7.11719e-05	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154394629C>T	ENST00000435029.4	+	1	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453000													10	104					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100617649	100617649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100617649G>A	ENST00000471714.1	-	4	548	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	147	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATGGTGTGGGTTGATGAGG	0.473000													37	34					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625938	20625938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20625938G>T	ENST00000525748.1	+	3	920	c.647G>T	c.(646-648)aGg>aTg	p.R216M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGTCTGGAGGTTTCCCTAC	0.632000													7	137					0.000157383	0.00017284	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62302477	62302477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62302477G>T	ENST00000378024.4	-	4	614	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	AHNAK_ENST00000257247.7_Missense_Mutation_p.L114M|AHNAK_ENST00000530124.1_Missense_Mutation_p.L114M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	114					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTACTCACCAGAACCACTTCA	0.672000													14	26					4.3838e-07	5.12524e-07	1	1	0
EZH1	2145	broad.mit.edu	37	17	40858040	40858040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40858040C>A	ENST00000428826.2	-	16	1945	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	EZH1_ENST00000592743.1_Missense_Mutation_p.Q608H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q469H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q599H|EZH1_ENST00000590078.1_Missense_Mutation_p.Q538H|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000585893.1_Missense_Mutation_p.Q568H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	608					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGTCCACGCTGGATGCTGC	0.542000													10	7					0.000673444	0.000724755	1	1	0
TMEM181	57583	broad.mit.edu	37	6	159010761	159010761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159010761G>T	ENST00000367090.3	+	6	861	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	284					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAGTATACAGTGATAGTGGG	0.433000													5	35					3.59834e-05	4.01776e-05	1	1	0
IGSF21	84966	broad.mit.edu	37	1	18692015	18692015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18692015G>A	ENST00000251296.1	+	6	1222	c.839G>A	c.(838-840)aGc>aAc	p.S280N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	280						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGTCCACAGCGCCGAGCCC	0.637000													36	60					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005516	118005516	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:118005516C>A	ENST00000310754.4	-	1	1220	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388000													70	123					8.73484e-25	1.15969e-24	1	1	0
KMT2C	58508	broad.mit.edu	37	7	152012407	152012407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152012407A>G	ENST00000355193.2	-	4	624	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	KMT2C_ENST00000262189.6_Missense_Mutation_p.F136L					lysine (K)-specific methyltransferase 2C																		CAGTAACAAAAAGCGCAGAGC	0.368000													33	102					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132681707	132681707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132681707C>A	ENST00000328957.8	-	11	1756	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M	GALNT9_ENST00000397325.2_Missense_Mutation_p.R220M|GALNT9_ENST00000541995.1_Missense_Mutation_p.R220M|GALNT9_ENST00000535228.1_Missense_Mutation_p.R337M	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCCGAGCACCTCTGTACCAC	0.647000													7	40					1.6384e-10	2.02096e-10	1	1	0
ACER1	125981	broad.mit.edu	37	19	6312450	6312450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312450C>T	ENST00000301452.4	-	2	231	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	52						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGCTTCTGGGCATACGGGTGC	0.552000													33	55					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1232011	1232011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1232011G>A	ENST00000510568.1	-	2	713	c.122C>T	c.(121-123)gCc>gTc	p.A41V	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.A52V|CTBP1_ENST00000382952.3_Missense_Mutation_p.A41V			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	52	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTCGCAGAAGGCCACAGTGGC	0.657000													36	52					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573840G>A	ENST00000220562.4	+	3	1166	c.264G>A	c.(262-264)tcG>tcA	p.S88S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582000													12	27					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035078	58035078	+	Missense_Mutation	SNP	G	G	T	rs142581541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58035078G>T	ENST00000395079.2	-	1	654	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCCAGGAGAGTGATGGTC	0.537000													12	24					2.27111e-07	2.66951e-07	1	1	0
ADAM10	102	broad.mit.edu	37	15	58889778	58889778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58889778C>A	ENST00000260408.3	-	16	2658	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E438*|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	739					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATAACTCTCTCGGGGCCGC	0.468000													5	57					0.184627	0.186383	1	1	0
EVC	2121	broad.mit.edu	37	4	5733317	5733317	+	Missense_Mutation	SNP	G	G	A	rs41269549	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5733317G>A	ENST00000382674.2	+	4	734	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EVC_ENST00000509451.1_Missense_Mutation_p.D184N|EVC_ENST00000264956.6_Missense_Mutation_p.D184N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	184					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCCACCAGCGATGACAGGTT	0.632000													4	46					0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166542	67166542	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67166542A>G	ENST00000376745.4	-	5	764	c.616T>C	c.(616-618)Tgg>Cgg	p.W206R	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.W217R|PPP1CA_ENST00000358239.4_Missense_Mutation_p.W162R	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	206					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGGTCAGACCACAGCAGGTCA	0.632000													5	74					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622506	169622506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622506C>T	ENST00000366787.3	-	20	3308	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1020	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCGTCGTCCCGGTCAGTGTT	0.522000													4	41					0	0	1	0	0
UGT1A1	0	broad.mit.edu	37	2	234669695	234669695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234669695G>A	ENST00000360418.3	+	1	762	c.762G>A	c.(760-762)tgG>tgA	p.W254*	UGT1A1_ENST00000305208.5_Nonsense_Mutation_p.W254*|UGT1A3_ENST00000482026.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		254					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATCTGTCTGGCTGTTTAGAA	0.478000													57	74					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75153512	75153512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75153512G>T	ENST00000526177.1	-	8	2527	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	GDPD5_ENST00000533784.1_Missense_Mutation_p.L236M|GDPD5_ENST00000533805.1_Missense_Mutation_p.L110M|GDPD5_ENST00000336898.3_Missense_Mutation_p.L355M|GDPD5_ENST00000376282.3_Missense_Mutation_p.L236M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L355M|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	355					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGAGCAGCAGTGTGGCATTG	0.647000													7	20					5.18039e-06	5.91835e-06	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51263172	51263172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51263172T>C	ENST00000266037.9	+	15	1368	c.1345T>C	c.(1345-1347)Tat>Cat	p.Y449H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	449	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGACCATGTATGTGCTTTA	0.443000													42	57					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183905481	183905481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183905481C>T	ENST00000429586.2	+	5	563	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ABCF3_ENST00000292808.5_Silent_p.A120A|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	126							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGAGAAGGCCGAGGCTCGAC	0.527000													16	20					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113475	55113475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55113475G>T	ENST00000370862.3	+	2	598	c.262G>T	c.(262-264)Gta>Tta	p.V88L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	88					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGAGGACGGTAACCAACTA	0.448000													10	121					2.17888e-05	2.45068e-05	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84657498	84657498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84657498C>T	ENST00000286744.5	+	22	3996	c.3772C>T	c.(3772-3774)Caa>Taa	p.Q1258*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q1258*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGAAAGAACAAGGCATATA	0.363000													7	58					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188359	203188359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203188359C>T	ENST00000367229.1	-	9	1048	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CHIT1_ENST00000535569.1_Silent_p.E329E|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.E319E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	338					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTTGAAGCTCTCCACATCAT	0.547000													31	84					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66532272	66532272	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532272T>C	ENST00000359626.5	+	10	1320	c.1155_splice	c.e10-1	p.S386_splice		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	386					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTGTCATAGTCCATGCTCCG	0.418000													76	52					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941595	130941595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130941595G>T	ENST00000538431.1	-	8	1138	c.891C>A	c.(889-891)gaC>gaA	p.D297E	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.D297E|CIZ1_ENST00000541172.1_Missense_Mutation_p.D196E|CIZ1_ENST00000372938.5_Missense_Mutation_p.D297E|CIZ1_ENST00000277465.4_Missense_Mutation_p.D297E|CIZ1_ENST00000357558.5_Missense_Mutation_p.D297E|CIZ1_ENST00000325721.8_Missense_Mutation_p.D268E|CIZ1_ENST00000372948.3_Missense_Mutation_p.D297E|CIZ1_ENST00000372954.1_Missense_Mutation_p.D273E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	297	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGGCAGCAGGTCTGGTGTCT	0.627000													34	47					1.836e-18	2.39396e-18	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38980372G>T	ENST00000359357.3	+	89	13276	c.13022G>T	c.(13021-13023)aGg>aTg	p.R4341M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423000													90	135					4.04825e-61	5.47928e-61	1	1	0
ZNF668	79759	broad.mit.edu	37	16	31075764	31075764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075764G>A	ENST00000538906.1	-	2	801	c.17C>T	c.(16-18)gCa>gTa	p.A6V	ZNF668_ENST00000539836.3_Missense_Mutation_p.A29V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A6V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A29V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A6V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A6V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGGCCTCTGCAGCCTCCAC	0.612000													24	24					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477642	58477642	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58477642C>T	ENST00000344743.3	-	6	630		c.e6-1		GLYAT_ENST00000278400.3_3'UTR|GLYAT_ENST00000529732.1_Splice_Site	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTCTTGGTTGCTATGGAGGGT	0.393000													7	54					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144652165	144652165	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144652165C>T	ENST00000398882.3	-	7	1370	c.1114G>A	c.(1114-1116)Gcg>Acg	p.A372T		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		GGGTCGTCCGCGCTGCGAAGC	0.632000													14	38					0	0	1	0	0
S100A9	6280	broad.mit.edu	37	1	153330827	153330827	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153330827C>A	ENST00000368738.3	+	2	111	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	23	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAATACTCTGTGAAGCTG	0.493000													18	31					1.67942e-08	2.01326e-08	1	1	0
FLT1	2321	broad.mit.edu	37	13	28964134	28964134	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28964134T>A	ENST00000282397.4	-	13	2019	c.1768A>T	c.(1768-1770)Att>Ttt	p.I590F	FLT1_ENST00000541932.1_Missense_Mutation_p.I590F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	590	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGCAGTAAAATCCAAGTAACG	0.393000													45	60					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764288	184764288	+	Silent	SNP	G	G	A	rs150744246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184764288G>A	ENST00000367511.3	-	14	2803	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTGGGCCGCGCTGCTTTGCC	0.577000													53	59					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109778673	109778673	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109778673A>T	ENST00000369923.4	+	8	1055	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A	SARS_ENST00000234677.2_Silent_p.A348A			P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTACCACCGCAGAGGAGTTCT	0.493000													38	68					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871901	20871901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20871901C>T	ENST00000262715.5	-	6	1215	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	392	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGTGGCCGGCGGGGGTGTCT	0.627000													27	44					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27192502	27192502	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27192502T>C	ENST00000380036.4	+	11	1947	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	TEK_ENST00000519097.1_Missense_Mutation_p.V355A|TEK_ENST00000406359.4_Missense_Mutation_p.V459A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	502	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATGAGATTGTTACACTCAAC	0.473000													46	56					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43580603	43580603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580603G>A	ENST00000372813.3	-	4	573	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	141					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGCTTCAGGCGCCACTCAGGC	0.517000													14	37					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940512	31940512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940512G>T	ENST00000375331.2	+	3	711	c.545G>T	c.(544-546)aGg>aTg	p.R182M	STK19_ENST00000463823.1_Intron|STK19_ENST00000375333.2_Missense_Mutation_p.R182M	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	182						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GTGCCTGACAGGACCGTGGCC	0.647000													6	47					0.00116845	0.00124821	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122273251	122273251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122273251G>A	ENST00000263710.4	-	7	1023	c.634C>T	c.(634-636)Cca>Tca	p.P212S	CLASP1_ENST00000397587.3_Missense_Mutation_p.P212S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P212S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P212S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P212S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	212					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGGGACTGTGGCAATCCTTTT	0.423000													3	25					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32738972G>T	ENST00000265074.8	+	3	1238	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	NPR3_ENST00000434067.2_Missense_Mutation_p.D83Y|NPR3_ENST00000415167.2_Missense_Mutation_p.D299Y|NPR3_ENST00000415685.2_Missense_Mutation_p.D83Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458000													8	59					0.00448238	0.00472561	1	1	0
USP35	57558	broad.mit.edu	37	11	77921330	77921330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921330G>A	ENST00000529308.1	+	10	2690	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	USP35_ENST00000526425.1_Missense_Mutation_p.R541H|USP35_ENST00000441408.2_Missense_Mutation_p.R396H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.R378H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	810					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACACTGCTGCGCTTCTCTTTC	0.642000													49	51					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99168368	99168368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99168368G>A	ENST00000401707.2	+	15	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	POP1_ENST00000349693.3_Silent_p.E716E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	716					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGACTGGGAGTCAAGAGTCC	0.502000													36	62					0	0	1	0	0
GDF11	0	broad.mit.edu	37	12	56142563	56142563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56142563C>T	ENST00000257868.5	+	2	676	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	213	Poly-Gly.				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGAGGGGGCGGAGGCCGGC	0.602000													14	10					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26231348	26231348	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26231348G>T	ENST00000335473.7	+	17	3396	c.3146G>T	c.(3145-3147)aGt>aTt	p.S1049I	MYO18B_ENST00000536101.1_Missense_Mutation_p.S1049I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S1050I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1049	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGGCTCCAGTGACAGTGTG	0.587000													4	70					0.00024832	0.0002712	1	1	0
OR5H1	26341	broad.mit.edu	37	3	97851814	97851814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97851814G>A	ENST00000354565.2	+	1	273	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGAGTAAGATGATATCTCTCT	0.393000													67	115					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373104	100373104	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100373104G>T	ENST00000542585.1	+	0	6079				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCATGAGAAGGAGGAAGGTG	0.557000													10	23					0.361761	0.363227	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118352683	118352683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352683G>A	ENST00000534358.1	+	7	3911	c.3888G>A	c.(3886-3888)aaG>aaA	p.K1296K	KMT2A_ENST00000389506.5_Silent_p.K1296K|KMT2A_ENST00000354520.4_Silent_p.K1296K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGTCAAGCAAGCAGGTCTCCC	0.557000													24	23					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54579475	54579475	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54579475T>C	ENST00000251636.5	-	11	1669	c.1521A>G	c.(1519-1521)caA>caG	p.Q507Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	507							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGAATGCTGTTGTTGCTGCT	0.368000													7	136					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038679	94038679	+	Missense_Mutation	SNP	G	G	A	rs72656387		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94038679G>A	ENST00000297268.6	+	17	1309	c.838G>A	c.(838-840)Ggt>Agt	p.G280S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	280					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCGCCGGTCCCCGTGG	0.473000										HNSCC(75;0.22)			35	106					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327770	52327770	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52327770T>C	ENST00000339223.4	+	2	948	c.769T>C	c.(769-771)Tat>Cat	p.Y257H	FPR3_ENST00000595991.1_Missense_Mutation_p.Y257H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	257					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGGTTCCCTTATGAACTAAT	0.423000													4	60					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99411032	99411032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99411032G>T	ENST00000397899.2	-	10	3183	c.2852C>A	c.(2851-2853)tCt>tAt	p.S951Y		NM_207362.2	NP_997245.2			KIAA1211-like																		CCAAGCTTGAGATTTCTTTCT	0.468000													8	113					5.68852e-11	7.05143e-11	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66104046	66104046	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66104046G>T	ENST00000275532.3	+	4	881	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	KCTD7_ENST00000443322.1_Missense_Mutation_p.G233W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTGTCTTTTGGGCCCTGGGA	0.597000													6	86					2.0095e-06	2.31757e-06	1	1	0
SLC9A3R1	9368	broad.mit.edu	37	17	72758167	72758167	+	Missense_Mutation	SNP	G	G	A	rs41282065	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72758167G>A	ENST00000262613.5	+	2	653	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	SLC9A3R1_ENST00000413388.2_5'UTR	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	153			R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065).		apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						CTTCGGCCTCGGCTCTGTACC	0.627000													19	29					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210453	100210453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210453G>A	ENST00000317233.4	-	14	1905	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	AFF3_ENST00000409236.1_Missense_Mutation_p.A557V|AFF3_ENST00000409579.1_Missense_Mutation_p.A582V|AFF3_ENST00000356421.2_Missense_Mutation_p.A582V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCACCGCCACGGCCAC	0.721000													26	43					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121467747	121467747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121467747C>T	ENST00000305949.1	+	6	602	c.557C>T	c.(556-558)aCt>aTt	p.T186I		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	186					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTTACCTACTGTAGGAGCA	0.318000													40	68					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70980514	70980514	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70980514A>G	ENST00000276594.2	-	4	1064	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	288	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ACTGGCATTGACCACTTTACC	0.488000													3	67					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7646672	7646672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7646672G>A	ENST00000340080.4	+	13	2998	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	MIOS_ENST00000405785.1_Missense_Mutation_p.M859I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATGTATGCAGTTGGATA	0.418000													50	53					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57832852	57832852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57832852C>T	ENST00000264230.4	-	5	2935	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	566							GTP binding										AGGTGATATGCACAGGGAGGA	0.468000													27	38					0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46713008	46713008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46713008G>A	ENST00000218340.3	+	2	361	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	67	C-CAP/cofactor C-like.		C -> Y (in RP2).		cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATTCAAGACTGTGAGAACTGT	0.433000													17	122					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122047655	122047655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122047655C>T	ENST00000334010.7	-	18	3100	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	CADPS2_ENST00000313070.7_Silent_p.P889P|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Silent_p.P895P|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.P889P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	895	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAGTCTTGCGGTTGAGCCT	0.428000													3	21					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27589652	27589652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27589652G>A	ENST00000319394.3	+	3	593	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	WDTC1_ENST00000361771.3_Missense_Mutation_p.A20T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	20							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAGCGGGGTGCCCTGAGCTT	0.483000													23	38					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39618800	39618800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39618800C>T	ENST00000262039.4	+	18	2110	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.T160I|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T612I|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T22I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	675	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTTAGCCACCAGTACAAAA	0.279000										TSP Lung(28;0.18)			28	35					0	0	1	0	0
RP11-257K9.8	0	broad.mit.edu	37	6	73952237	73952237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73952237C>T	ENST00000423730.3	-	2	439	c.4G>A	c.(4-6)Gac>Aac	p.D2N	KHDC1_ENST00000257765.5_Missense_Mutation_p.D2N|KHDC1_ENST00000370384.3_Missense_Mutation_p.D75N																							GTTCCCATGTCCATGCTCTGC	0.527000													20	30					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50304164	50304164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50304164C>T	ENST00000330817.5	-	4	660	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCAGAACATGGTGGCCA	0.567000													16	40					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613983	613983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:613983G>A	ENST00000251287.2	+	7	2010	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	653					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGCCTTCGAGACGGTGGC	0.711000													12	15					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3187371	3187371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3187371G>T	ENST00000396878.3	+	2	565	c.90G>T	c.(88-90)caG>caT	p.Q30H	ZNF213_ENST00000576416.1_Missense_Mutation_p.Q30H|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q30H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617000													15	54					1.15088e-07	1.35723e-07	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27027530	27027530	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27027530C>T	ENST00000314616.6	+	35	5089	c.4806_splice	c.e35+1	p.H1602_splice	SUPT6H_ENST00000347486.4_Splice_Site_p.H1602_splice	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1602					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGCTTACCACGTATGTGGCT	0.642000													6	76					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796864	127796864	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127796864C>T	ENST00000556132.1	-	6	3171	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	SOGA3_ENST00000525778.1_Silent_p.P769P|SOGA3_ENST00000368268.2_Silent_p.P769P|SOGA3_ENST00000465909.2_Silent_p.P769P|SOGA3_ENST00000481848.2_Silent_p.P769P	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	769						integral to membrane											GCTTGCGGTGCGGAGGCCGCG	0.731000													37	21					0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413250	38413250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38413250G>T	ENST00000377694.1	-	3	693	c.671C>A	c.(670-672)gCc>gAc	p.A224D		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	224	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCAGGCCGTGGCCTCATGGTC	0.473000													22	33					4.26978e-12	5.35206e-12	1	1	0
CYP7B1	9420	broad.mit.edu	37	8	65528285	65528285	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:65528285C>A	ENST00000310193.3	-	3	986	c.813G>T	c.(811-813)ctG>ctT	p.L271L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	271					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATATTTCTCCAGGACATCTT	0.353000													15	196					1.02788e-11	1.28409e-11	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123047224	123047224	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123047224G>A	ENST00000333479.7	+	20	1759	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	KNTC1_ENST00000450485.2_Missense_Mutation_p.A491T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	528					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTATGGAGCATTTGGACC	0.343000													9	11					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73815757	73815757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73815757C>T	ENST00000332687.6	-	2	274	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RLIM_ENST00000349225.2_Missense_Mutation_p.R19H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	19					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGACTTCTGCGCTGTGCTGC	0.378000													21	39					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119051903	119051903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119051903C>A	ENST00000409109.1	+	8	2878	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	NLRX1_ENST00000409991.1_Missense_Mutation_p.P764H|NLRX1_ENST00000525863.1_Missense_Mutation_p.P764H|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Missense_Mutation_p.P764H|NLRX1_ENST00000409265.4_Missense_Mutation_p.P764H			Q86UT6	NLRX1_HUMAN	NLR family member X1	764	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCCTGGGCCCTGAGGCCTGC	0.607000													5	55					0.00116845	0.00124821	1	1	0
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262702C>A	ENST00000295321.4	-	3	1036	c.777G>T	c.(775-777)caG>caT	p.Q259H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.Q266H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537000													10	199					4.68919e-08	5.58064e-08	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89915682	89915682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89915682C>A	ENST00000389297.4	+	14	1876	c.1625C>A	c.(1624-1626)tCt>tAt	p.S542Y	C7orf63_ENST00000497910.1_Missense_Mutation_p.S524Y|C7orf63_ENST00000316089.8_Missense_Mutation_p.S542Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	542							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTATCCTATCTGGCCTTTGT	0.348000													26	78					4.59853e-10	5.63411e-10	1	1	0
LST3	0	broad.mit.edu	37	12	21207494	21207494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21207494G>A	ENST00000381541.3	+	11	1671	c.1606G>A	c.(1606-1608)Gtt>Att	p.V536I	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V489I|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V536I|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron																							GAAATCTTACGTTTATTTTGT	0.383000													27	40					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907788	180907788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180907788G>T	ENST00000367588.4	+	6	2914	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K574N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	953	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCAGCAAGGAATCAGAGG	0.572000													27	32					4.87955e-14	6.21198e-14	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67286071	67286071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67286071T>G	ENST00000392676.3	-	13	1778	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P	ABCA5_ENST00000588877.1_Missense_Mutation_p.T572P|ABCA5_ENST00000392677.2_Missense_Mutation_p.T572P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	572	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCTACTGTCAAAACATCA	0.299000													19	41					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44113546	44113546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113546C>T	ENST00000242248.5	-	9	1251	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	POLM_ENST00000395831.3_Missense_Mutation_p.A304T|POLM_ENST00000335195.6_Missense_Mutation_p.A347T	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	384					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTCTCAAAAGCGTCCATGTGG	0.632000								DNA polymerases (catalytic subunits)					41	34					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569667	73569667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73569667G>A	ENST00000392550.3	+	21	2948	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	LLGL2_ENST00000167462.5_Missense_Mutation_p.R944H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R944H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	944					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAACCACCGCCCTGGTAAC	0.652000													21	31					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41224105	41224105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41224105C>T	ENST00000263370.2	+	1	1098	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	355						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGCAGCGGCGGCTTCTCCT	0.692000													28	37					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73828040	73828040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73828040G>A	ENST00000373109.2	-	6	938	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SPOCK2_ENST00000536168.1_Missense_Mutation_p.A165V|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.A165V	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	165	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTCAGGCACGCCTGTTGCTC	0.667000													6	7					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956563	50956563	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50956563C>T	ENST00000395701.3	+	7	596	c.500_splice	c.e7-1	p.R168_splice	NCAPH2_ENST00000420993.2_Splice_Site_p.R168_splice|NCAPH2_ENST00000299821.11_Splice_Site_p.R168_splice|NCAPH2_ENST00000395698.3_Splice_Site_p.R168_splice			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCAGCACAGCCGTCAGGGTGA	0.622000													12	21					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86276317	86276317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86276317C>T	ENST00000263857.6	-	17	2819	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R814H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	814					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCAATGATACGTTGCCTCTT	0.547000													43	81					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119204261	119204261	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119204261C>T	ENST00000296498.3	-	12	2327	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	682	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTGCTGTTGCCATACCTGAG	0.403000													6	106					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32059379	32059379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32059379C>T	ENST00000438447.1	+	13	2623	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZD2_ENST00000282493.3_Silent_p.C745C			O15018	PDZD2_HUMAN	PDZ domain containing 2	745	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCCTGCTGCTTGGCTCTGG	0.443000													6	44					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1266973	1266973	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1266973C>A	ENST00000348261.5	+	31	5534	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I	CACNA1H_ENST00000565831.1_Silent_p.I1756I|CACNA1H_ENST00000358590.4_Silent_p.I1756I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTTTTTATCTATGCTGCGC	0.632000													5	6					0.0293803	0.0301098	1	1	0
GTF3C5	9328	broad.mit.edu	37	9	135929816	135929816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929816C>T	ENST00000372097.5	+	7	1333	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	GTF3C5_ENST00000342018.8_Missense_Mutation_p.P268L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P328L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P337L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P212L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	337						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGTGACTTGCCGGTCAAAGCA	0.597000													7	11					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71234659	71234659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71234659T>C	ENST00000418814.2	+	15	2486	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	FAM135A_ENST00000505868.1_Silent_p.D624D|FAM135A_ENST00000505769.1_Silent_p.D428D|FAM135A_ENST00000457062.2_Silent_p.D411D|FAM135A_ENST00000370479.3_Silent_p.D411D|FAM135A_ENST00000361499.3_Silent_p.D428D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	624										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCCAGGACGATAGTGAAATTA	0.398000													18	39					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808854	77808854	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808854T>C	ENST00000269397.4	-	5	764	c.587A>G	c.(586-588)gAc>gGc	p.D196G	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	196	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCCACTTGTCGGGCGGGTG	0.721000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	28					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323797	107323797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107323797G>A	ENST00000265715.3	+	7	1140	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	306					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAAGTAATTGTGGTAAGTAG	0.338000									Pendred syndrome				35	119					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35375166	35375166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35375166G>T	ENST00000378495.3	+	13	1558	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	UNC13B_ENST00000396787.1_Missense_Mutation_p.A458S|UNC13B_ENST00000378496.4_Missense_Mutation_p.A446S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	446					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGCAATGGCTACACGCAC	0.537000													75	129					6.43283e-47	8.69412e-47	1	1	0
STAP2	55620	broad.mit.edu	37	19	4325454	4325454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4325454C>A	ENST00000600324.1	-	10	985	c.918G>T	c.(916-918)caG>caT	p.Q306H	STAP2_ENST00000594605.1_Missense_Mutation_p.Q306H|STAP2_ENST00000597593.1_5'UTR	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	306	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCTTCCTGGTTCGGTA	0.612000													31	83					4.32679e-17	5.60236e-17	1	1	0
ARMC8	25852	broad.mit.edu	37	3	137982647	137982647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137982647C>T	ENST00000469044.1	+	13	1472	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.R328W|ARMC8_ENST00000393058.3_Missense_Mutation_p.R391W|NME9_ENST00000383180.2_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.R359W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R387W|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.R370W|ARMC8_ENST00000461822.1_Missense_Mutation_p.R334W	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	401							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGGTGCGGTTAGCTGC	0.393000													66	84					0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17929569	17929569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17929569G>T	ENST00000377768.3	-	11	1195	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SNX5_ENST00000377759.4_Missense_Mutation_p.L295I|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	295	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TAGTATCGGAGGAGCTCTGTT	0.413000													20	53					3.62473e-10	4.44982e-10	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135593701	135593701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135593701C>A	ENST00000535601.1	+	10	2219	c.1797C>A	c.(1795-1797)aaC>aaA	p.N599K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.N599K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	599	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAAAACTCCGAATTTG	0.393000													36	79					6.90743e-12	8.64953e-12	1	1	0
DNM1P46	0	broad.mit.edu	37	15	100331713	100331713	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331713T>C	ENST00000341853.1	-	0	2478					NR_003260.1																						CCACAGTACCTCCCTTATTGG	0.562000													8	17					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2523469	2523469	+	Missense_Mutation	SNP	G	G	A	rs140362721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2523469G>A	ENST00000293973.1	+	5	1561	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	453	NTR.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCAGCTACCGCATCAGCCTA	0.617000													38	68					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69356569	69356569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69356569C>A	ENST00000254950.11	+	10	1334	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	393					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGATGTCCCTGGGGACAAA	0.562000													9	57					0.000442599	0.00048047	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43023821	43023821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023821C>T	ENST00000356231.3	-	11	1759	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	579						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCCTACCTGCTGGCACTAAG	0.577000													28	49					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132632081	132632081	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132632081C>G	ENST00000315480.4	+	14	1681	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	USP20_ENST00000358355.1_Missense_Mutation_p.A508G|USP20_ENST00000372429.3_Missense_Mutation_p.A508G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	508					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACAGCTATGCCGCCCAGGGC	0.617000													29	52					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64664353	64664353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64664353C>A	ENST00000543942.2	-	12	2352	c.1726G>T	c.(1726-1728)Gct>Tct	p.A576S	C12orf56_ENST00000333722.5_Missense_Mutation_p.A416S|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	579										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATATACTCAGCTAGAGTCCTG	0.403000													3	22					0.004672	0.0049138	1	1	0
ZC2HC1A	51101	broad.mit.edu	37	8	79590894	79590894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:79590894G>T	ENST00000263849.4	+	3	292	c.190G>T	c.(190-192)Gta>Tta	p.V64L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	64																	TATTCCAACAGTAAAACCTCT	0.353000													8	125					0.00307968	0.00325696	1	1	0
ZMYM4	9202	broad.mit.edu	37	1	35857931	35857931	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35857931G>T	ENST00000314607.6	+	16	2786	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V	ZMYM4_ENST00000373297.2_Silent_p.V813V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	902					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCTACAGTGAATTCTAACA	0.453000													4	37					0.00909568	0.00947522	1	1	0
EPS8L3	79574	broad.mit.edu	37	1	110293362	110293362	+	Missense_Mutation	SNP	G	G	A	rs78041550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110293362G>A	ENST00000369805.3	-	18	1922	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P564S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P534S	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	564						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCCCCAGGTCTTATGCGA	0.607000													26	24					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639588	9639588	+	Missense_Mutation	SNP	C	C	T	rs143787580		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639588C>T	ENST00000593003.1	-	6	1496	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF426_ENST00000253115.2_Missense_Mutation_p.R378H|ZNF426_ENST00000535489.1_Missense_Mutation_p.R378H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R378H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGAATAAGGCGTGAGGATGT	0.428000													20	27					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7706895	7706895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7706895G>A	ENST00000338316.4	+	8	1237	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCAACATGCGCGTGGGCGTG	0.473000													51	76					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9097991	9097991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9097991C>T	ENST00000383836.3	-	8	1478	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V351I|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	351					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTGTCTGGACGGGCTGCTGA	0.587000			T	RAF1	pilocytic astrocytoma								19	40					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779374	52779374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52779374C>T	ENST00000396947.3	+	3	484	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000256759.3_Silent_p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	106	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537000													5	22					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142452	217142452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217142452C>A	ENST00000273067.4	-	3	2574	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	270						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGAGAAGGTCTTGGCGCTGC	0.562000													12	104					3.27435e-08	3.90559e-08	1	1	0
CBX6	23466	broad.mit.edu	37	22	39262791	39262791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262791C>T	ENST00000407418.3	-	5	785	c.662G>A	c.(661-663)cGt>cAt	p.R221H	CBX6_ENST00000216083.6_Missense_Mutation_p.R203H			O95503	CBX6_HUMAN	chromobox homolog 6	221					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GATCTGTGTACGCAGGACGCT	0.701000													20	40					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42033629	42033629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42033629C>T	ENST00000220809.4	-	14	1827	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	PLAT_ENST00000524009.1_Missense_Mutation_p.R435H|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000352041.3_Missense_Mutation_p.R478H|PLAT_ENST00000429710.2_Missense_Mutation_p.R398H|PLAT_ENST00000519510.1_Missense_Mutation_p.R461H|PLAT_ENST00000429089.2_Missense_Mutation_p.R524H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	524	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAAAGTCATGCGGCCATCGTT	0.542000													6	10					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722625	50722625	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50722625G>A	ENST00000449103.1	-	13	2339	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	PLXNB2_ENST00000359337.4_Silent_p.N733N|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	733					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGTCTCGTTGGCATCGT	0.682000													7	65					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79954682	79954682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79954682C>T	ENST00000360280.3	+	48	6889	c.6629C>T	c.(6628-6630)gCa>gTa	p.A2210V	VPS13A_ENST00000376634.4_Missense_Mutation_p.A2210V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2210V|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2171V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2210					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGTTGTGGCATTTCATAGT	0.368000													39	87					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64469558	64469558	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64469558A>T	ENST00000358025.3	+	30	4137	c.3907A>T	c.(3907-3909)Aaa>Taa	p.K1303*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTATACTGAAATACAAAAC	0.388000													6	51					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662914	7662914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7662914G>T	ENST00000572933.1	+	16	4083	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G875*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	875	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCTGCAAGGAAGTGTGGC	0.458000													18	39					3.32936e-07	3.90007e-07	1	1	0
SETDB2	83852	broad.mit.edu	37	13	50054363	50054363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50054363G>A	ENST00000354234.4	+	7	1784	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	SETDB2_ENST00000258672.5_Missense_Mutation_p.C293Y|SETDB2_ENST00000317257.8_Missense_Mutation_p.C305Y	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	305	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAACAAAATGTGCATGTCTT	0.358000													42	86					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25470565	25470565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25470565C>T	ENST00000278886.6	-	12	1615	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	NINL_ENST00000422516.1_Silent_p.S514S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCCTCTCCGAATCCGAAA	0.577000													41	57					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171029	70171029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70171029C>T	ENST00000253925.7	+	4	658	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.A148V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	148					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAGACAAGCGCAGTCTCCA	0.493000													66	126					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1484094	1484094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1484094C>T	ENST00000331035.4	+	9	1172	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197W	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R275R(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAAGAGCCCGGGAAAGAGT	0.572000													21	35					0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89659564	89659564	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89659564T>C	ENST00000352732.5	+	3	526	c.6T>C	c.(4-6)aaT>aaC	p.N2N	ABHD2_ENST00000355100.3_Silent_p.N2N|ABHD2_ENST00000565973.1_Silent_p.N2N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	2						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCAAGATGAATGCCATGCTGG	0.562000													16	41					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51210375	51210375	+	Missense_Mutation	SNP	G	G	A	rs149117642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51210375G>A	ENST00000396153.2	-	5	891	c.440C>T	c.(439-441)aCg>aTg	p.T147M	FAF1_ENST00000371778.4_Missense_Mutation_p.T147M	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	147					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACATCTCCCGTCTTCCAGCC	0.299000													8	98					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30490414	30490414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30490414C>A	ENST00000356798.6	+	5	510	c.330C>A	c.(328-330)gcC>gcA	p.A110A	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Silent_p.A110A|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	110					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCTTTAGGCCTGTGACCCTG	0.517000													10	45					1.76689e-08	2.11513e-08	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47037063	47037063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47037063C>T	ENST00000450053.3	+	13	2017	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P613L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	613							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCTGCACCCTATGGATACA	0.632000													20	29					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54678284	54678284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54678284C>A	ENST00000605337.1	+	5	991	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MRPL37_ENST00000360840.5_Missense_Mutation_p.L315M|MRPL37_ENST00000336230.6_Missense_Mutation_p.L184M			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	315					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CAAGATGATCCTGTTTGCTTT	0.542000													13	84					2.32078e-09	2.82054e-09	1	1	0
TMEM87B	84910	broad.mit.edu	37	2	112834827	112834827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112834827C>T	ENST00000283206.4	+	6	929	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TCTATTAAAACGGAGAATACA	0.318000													23	35					0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44432972	44432972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44432972G>A	ENST00000444614.3	-	6	875	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CCDC122_ENST00000281508.3_Missense_Mutation_p.T206I|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	206										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		AAGAAAACAAGTTTTTTCAAT	0.249000													5	9					0	0	1	0	0
YPEL5	51646	broad.mit.edu	37	2	30379582	30379582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30379582C>T	ENST00000379520.3	+	4	569	c.65C>T	c.(64-66)aCg>aTg	p.T22M	YPEL5_ENST00000402708.1_Missense_Mutation_p.T22M|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Missense_Mutation_p.T22M|YPEL5_ENST00000402003.3_Missense_Mutation_p.T22M|YPEL5_ENST00000261353.4_Missense_Mutation_p.T22M	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	22							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACTGTGATACGATCCTGACC	0.428000													62	69					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33416806	33416806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33416806G>T	ENST00000484457.1	+	10	775	c.684G>T	c.(682-684)caG>caT	p.Q228H	FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q144H|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q160H	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	228					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTGGTGCAGATATGCAGGG	0.532000													7	87					5.18039e-06	5.91835e-06	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74425650	74425650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425650C>T	ENST00000361742.3	+	4	1324	c.555C>T	c.(553-555)tgC>tgT	p.C185C	ISLR2_ENST00000453268.2_Silent_p.C185C|ISLR2_ENST00000435464.1_Silent_p.C185C|ISLR2_ENST00000419208.1_Silent_p.C185C|ISLR2_ENST00000565159.1_Silent_p.C185C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Silent_p.C185C|ISLR2_ENST00000565540.1_Silent_p.C185C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	185	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCCACTGCGGCTGCGGCC	0.657000													46	63					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175346648	175346648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175346648C>T	ENST00000392552.2	-	2	275	c.37G>A	c.(37-39)Gca>Aca	p.A13T	GPR155_ENST00000295500.4_Missense_Mutation_p.A13T|GPR155_ENST00000392551.2_Missense_Mutation_p.A13T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	13					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATATTGACTGCAATGGTTAAG	0.408000													38	65					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429105	10429105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10429105G>A	ENST00000245503.5	-	31	4660	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1426W|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1426					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCAGCCGCTGCTTCGTC	0.512000													29	32					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160064677	160064677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160064677C>T	ENST00000368086.1	-	2	640	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G142S			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	142	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G142S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACCTTGCCGCTGTAGCTG	0.617000													13	18					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455236	16455236	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16455236G>T	ENST00000395824.1	-	6	2837	c.2220C>A	c.(2218-2220)acC>acA	p.T740T	ZNF287_ENST00000395825.3_Silent_p.T740T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	733					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGGGTGAAGGTTTTACCAC	0.388000													7	165					8.12818e-05	8.99451e-05	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411294	105411294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411294C>T	ENST00000333244.5	-	7	10613	c.10494G>A	c.(10492-10494)gtG>gtA	p.V3498V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3498						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCAGCG	0.617000													58	123					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11888655	11888655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11888655C>T	ENST00000346436.6	+	12	1147	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CLCN6_ENST00000376487.3_Silent_p.N343N|CLCN6_ENST00000376496.3_Silent_p.N365N|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	365					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597000													10	136					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762115	2762115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2762115G>A	ENST00000320876.6	+	36	4785	c.4447G>A	c.(4447-4449)Gtc>Atc	p.V1483I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1483I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1483					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATAGTTGAAGTCCTGCCTAA	0.378000													17	51					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97563235	97563235	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97563235C>T	ENST00000375315.2	+	4	1315	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	C9orf3_ENST00000395357.2_Silent_p.L59L|C9orf3_ENST00000277198.2_Silent_p.L439L|C9orf3_ENST00000297979.5_Silent_p.L439L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	439					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCTCTCGGCTGGATGTTCT	0.537000													11	110					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890677	45890677	+	Silent	SNP	G	G	A	rs139168515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45890677G>A	ENST00000007414.3	-	16	1883	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	OSBPL7_ENST00000392507.3_Silent_p.Y564Y	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	564					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCACACTCGTAGGTCTCCC	0.627000													19	21					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915803	13915803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13915803C>T	ENST00000254323.2	+	3	742	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	185							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGGAGCTGCGGCTGCCCAT	0.642000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	37					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2161436	2161436	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2161436T>C	ENST00000434045.2	-	2	475	c.91A>G	c.(91-93)Att>Gtt	p.I31V	IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron|IGF2_ENST00000300632.5_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATCTGGATAATGGTTACCCCG	0.577000													6	56					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90513145	90513145	+	Silent	SNP	G	G	A	rs147300618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90513145G>A	ENST00000369393.3	-	2	346	c.231C>T	c.(229-231)gcC>gcT	p.A77A	MDN1_ENST00000428876.1_Silent_p.A77A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	77					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATGGCTTCGGCATTCCTTT	0.493000													50	73					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48130758	48130758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48130758G>A	ENST00000311303.3	-	22	3439	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1032	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTTCATGAGGACATCCATT	0.458000													42	72					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44113479	44113479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113479G>A	ENST00000242248.5	-	9	1318	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	POLM_ENST00000395831.3_Missense_Mutation_p.T326M|POLM_ENST00000335195.6_Missense_Mutation_p.T369M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	406					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCAGGGCCTCGTGGATCCCCC	0.607000								DNA polymerases (catalytic subunits)					5	76					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109879449	109879449	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109879449C>A	ENST00000310903.5	+	26	2626	c.2520C>A	c.(2518-2520)atC>atA	p.I840I	MYO1H_ENST00000431443.2_Silent_p.I850I			B4DNW6	B4DNW6_HUMAN	myosin IH	31						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGTGAAATCTTCAGGGGAA	0.413000													4	22					0.00909568	0.00947522	1	1	0
WASF3	10810	broad.mit.edu	37	13	27250735	27250735	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27250735A>C	ENST00000335327.5	+	7	768	c.590A>C	c.(589-591)aAa>aCa	p.K197T	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	197					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGGTTAGAAAAGCCAGAAAC	0.488000													11	25					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922149	52922149	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922149G>T	ENST00000281741.4	-	18	2106	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	579					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCAAGCAGCAGGGCTGGAAGA	0.413000													4	79					0.00909568	0.00947522	1	1	0
MEX3A	92312	broad.mit.edu	37	1	156046973	156046973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156046973C>T	ENST00000532414.2	-	2	954	c.955G>A	c.(955-957)Gac>Aac	p.D319N	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	319						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCAGGCGTCGGAGTAGCGG	0.642000													41	81					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99303137	99303137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99303137C>T	ENST00000336374.2	-	13	1500	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	500					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GCTCCACTTACGGTCTCATCC	0.448000													4	97					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334163	102334163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102334163C>A	ENST00000395065.3	-	16	1465	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.G127V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	455	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587000													20	282					1.28384e-07	1.51375e-07	1	1	0
SNHG14	0	broad.mit.edu	37	15	25436567	25436567	+	RNA	SNP	C	C	T	rs2714776		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25436567C>T	ENST00000424208.1	+	0	1092				SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						TGGGTTGGGTCGATGATGAGA	0.537000													84	142					0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18459946	18459946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18459946G>T	ENST00000259939.3	+	6	962	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RNF144B_ENST00000429054.2_Missense_Mutation_p.K126N	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	215					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAAACTGCAAGCATACATTTT	0.468000													10	90					0.010729	0.0111717	1	1	0
EEF1D	1936	broad.mit.edu	37	8	144663400	144663400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144663400G>A	ENST00000532741.1	-	4	1764	c.1537_splice	c.e4+1	p.G512_splice	EEF1D_ENST00000442189.2_Splice_Site_p.G462_splice|EEF1D_ENST00000529272.1_Splice_Site_p.G96_splice|EEF1D_ENST00000528610.1_Splice_Site_p.G72_splice|EEF1D_ENST00000317198.6_Splice_Site_p.G96_splice|EEF1D_ENST00000524624.1_Splice_Site_p.G72_splice|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Splice_Site_p.G96_splice|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000423316.2_Splice_Site_p.G462_splice|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Splice_Site_p.G96_splice			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	96					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCTCACCGCCACGCAGAC	0.687000													4	28					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33171570	33171570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33171570C>A	ENST00000374677.3	+	7	1763	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	SLC39A7_ENST00000374675.3_Missense_Mutation_p.L464M|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	464				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGATGGTGCTGATTGCCCA	0.592000													18	36					3.32936e-07	3.90007e-07	1	1	0
ANKRA2	57763	broad.mit.edu	37	5	72858427	72858427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72858427G>T	ENST00000296785.3	-	2	938	c.280C>A	c.(280-282)Cta>Ata	p.L94I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	94						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCTTTAAATAGGACAGATGCC	0.323000													13	120					4.3838e-07	5.12524e-07	1	1	0
MTMR1	8776	broad.mit.edu	37	X	149905115	149905115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905115C>T	ENST00000445323.2	+	11	1250	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	MTMR1_ENST00000541925.1_Missense_Mutation_p.L275F|MTMR1_ENST00000451863.2_Missense_Mutation_p.L369F|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.L369F|MTMR1_ENST00000370390.3_Missense_Mutation_p.L369F			Q13613	MTMR1_HUMAN	myotubularin related protein 1	369	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGAACTTGTGTTCTT	0.403000													35	78					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000530991.1_Missense_Mutation_p.A387V|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617000													10	23					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746384	81746384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81746384T>C	ENST00000356860.3	-	6	840	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I168V|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.I168V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	168						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAGGAATATGGACTGCT	0.418000													90	76					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552708	42552708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42552708C>T	ENST00000289957.2	+	1	147	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	7					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGATTTTATGCTGGTTCTCAT	0.398000													38	52					0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2252325	2252325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2252325G>A	ENST00000337190.2	-	6	889	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	192					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGCCACTGTCGCCGCCGGTGC	0.701000													4	9					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171392294	171392294	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392294A>T	ENST00000356327.5	-	18	2181	c.2111T>A	c.(2110-2112)gTa>gAa	p.V704E	PLD1_ENST00000340989.4_Missense_Mutation_p.V742E|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.V742E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTACCTGTACGTTAGCATG	0.393000													28	34					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41989149	41989149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41989149G>A	ENST00000219905.7	+	3	2122	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	MGA_ENST00000389936.4_Silent_p.G647G|MGA_ENST00000566586.1_Silent_p.G647G|MGA_ENST00000570161.1_Silent_p.G647G|MGA_ENST00000545763.1_Silent_p.G647G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	647						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAGCCCTGGGAGTACCTTTC	0.408000													6	8					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	803					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299000													28	30					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38386085	38386085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38386085C>T	ENST00000358138.1	-	1	95	c.71G>A	c.(70-72)aGc>aAc	p.S24N	C8orf86_ENST00000437935.2_Missense_Mutation_p.S24N	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	24										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTCTCTAAGGCTCCTGCCAAC	0.552000													23	25					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108216544	108216544	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108216544C>A	ENST00000278616.4	+	58	8878	c.8493C>A	c.(8491-8493)ttC>ttA	p.F2831L	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.F2831L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2831	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACCAGTTTTCCGTTACTTCT	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	177					0.00829132	0.00869385	1	1	0
PABPC1L	80336	broad.mit.edu	37	20	43561799	43561799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43561799C>T	ENST00000372824.1	+	1	1597	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	PABPC1L_ENST00000255136.3_Missense_Mutation_p.R473C|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R473C|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.R27C|PABPC1L_ENST00000217075.2_Missense_Mutation_p.R27C			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	473	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCAGGTGCCACGCACGGTGCC	0.652000													7	8					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19750088	19750088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19750088C>T	ENST00000395544.4	-	6	930	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ULK2_ENST00000361658.2_Missense_Mutation_p.R144H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	144	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGATTTTCTGCGATTGGCATA	0.403000													94	154					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493863	100493863	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493863A>G	ENST00000395996.1	+	25	3814	c.3703A>G	c.(3703-3705)Aag>Gag	p.K1235E	VPS13B_ENST00000358544.2_Missense_Mutation_p.K1235E|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1235E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1235					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATCATGAATAAGGTCTGGAA	0.413000													25	173					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354638	134354638	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134354638G>T	ENST00000357304.4	+	18	4813		c.e18-1		PRRC2B_ENST00000372249.1_Splice_Site|PRRC2B_ENST00000405995.1_Splice_Site|PRRC2B_ENST00000458550.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCCCCTCAGGTGCCTGTCA	0.498000													15	24					6.94344e-10	8.49476e-10	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177899015	177899015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177899015C>T	ENST00000308284.6	-	26	3250	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	1054					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTGGGATAGCGACGCTGAGC	0.512000													13	13					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34935965G>A	ENST00000439527.2	+	8	920	c.422G>A	c.(421-423)cGt>cAt	p.R141H	UBA2_ENST00000246548.4_Missense_Mutation_p.R237H			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328000													8	75					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343000													22	50					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40735765	40735765	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40735765T>G	ENST00000372759.3	+	5	758	c.593T>G	c.(592-594)aTt>aGt	p.I198S		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	198						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TATTTTTTTATTTATGCCTGG	0.328000													6	252					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119015149	119015149	+	Silent	SNP	G	G	A	rs149854149	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119015149G>A	ENST00000298472.5	+	9	1019	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGAAGGACCCGTACATCCTCA	0.617000													13	21					0	0	1	0	0
IFFO2	126917	broad.mit.edu	37	1	19236951	19236951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19236951C>A	ENST00000455833.2	-	8	1686	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	RP13-279N23.2_ENST00000494072.3_Missense_Mutation_p.S223I	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN	intermediate filament family orphan 2	445										endometrium(1)|kidney(1)	2						TCACTTTTGGCTGTGGCCAGC	0.572000													4	19					0.00909568	0.00947522	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	96986534	96986534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96986534G>A	ENST00000216277.8	+	2	371	c.151G>A	c.(151-153)Gtt>Att	p.V51I	PAPOLA_ENST00000557320.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000557471.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.V51I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383000													11	81					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446488	92446488	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92446488T>C	ENST00000370389.2	+	10	2208	c.1284T>C	c.(1282-1284)tcT>tcC	p.S428S	BRDT_ENST00000399546.2_Silent_p.S501S|BRDT_ENST00000402388.1_Silent_p.S501S|BRDT_ENST00000394530.3_Silent_p.S455S|BRDT_ENST00000362005.3_Silent_p.S501S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAATCTGAAGATGAAG	0.333000													12	61					0	0	1	0	0
PTPRCAP	5790	broad.mit.edu	37	11	67203585	67203585	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67203585G>T	ENST00000326294.3	-	2	687	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	80					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCAGAGCAGGCGCCGCGTGC	0.711000													6	11					0.00116845	0.00124821	1	1	0
SYT14	255928	broad.mit.edu	37	1	210273780	210273780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273780A>G	ENST00000537238.1	+	7	1415	c.1024A>G	c.(1024-1026)Ata>Gta	p.I342V	SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Missense_Mutation_p.I380V|SYT14_ENST00000534859.1_Missense_Mutation_p.I380V|SYT14_ENST00000422431.1_Missense_Mutation_p.I425V|SYT14_ENST00000367015.1_Missense_Mutation_p.I342V|SYT14_ENST00000367019.1_Missense_Mutation_p.I380V|SYT14_ENST00000472886.1_Missense_Mutation_p.I380V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	380	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATTGCCTGTGATATTGGAACC	0.313000													23	47					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917135	32917135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32917135G>T	ENST00000374843.4	-	4	779	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.L198M|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.L137M	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	232						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACGCCACACAGCACATTCTCC	0.582000													13	9					4.3838e-07	5.12524e-07	1	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16060322	16060322	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16060322G>A	ENST00000375799.3	+	20	3180	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A965T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	985					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATCCAGGAAGCCTCCAACAA	0.637000													20	37					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460635	12460635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12460635T>C	ENST00000242804.4	-	6	2346	c.1764A>G	c.(1762-1764)cgA>cgG	p.R588R	ZNF442_ENST00000438182.1_Silent_p.R519R	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTCATGTCCTCGAAGGAAAC	0.428000													12	94					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228528510G>A	ENST00000570156.2	+	83	20563	c.20489G>A	c.(20488-20490)cGc>cAc	p.R6830H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3507H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2992H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5873H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5873H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5873					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687000													4	3					0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61518548	61518548	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61518548T>C	ENST00000354886.2	+	14	1258	c.1094T>C	c.(1093-1095)tTc>tCc	p.F365S	SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365S|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342S	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATTTTCCATTCTCATGGATT	0.323000													5	77					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2840777	2840777	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2840777A>G	ENST00000380739.5	-	2	246	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	15					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CGCCAGGAACAGGTCCAAGGC	0.547000													11	31					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025059	176025059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025059C>T	ENST00000303991.4	-	2	1954	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	593						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGGACACGGGATCCACC	0.572000													32	46					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48433533	48433533	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48433533C>G	ENST00000017003.2	+	7	1442	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	XYLT2_ENST00000507602.1_Missense_Mutation_p.L465V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	465					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAACCGCAAGCTGGGCTGCAA	0.602000													5	51					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27075049	27075049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27075049C>A	ENST00000262395.5	+	4	444	c.315C>A	c.(313-315)acC>acA	p.T105T	TRAF4_ENST00000262396.6_Silent_p.T105T|TRAF4_ENST00000444415.3_Silent_p.T105T	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	105					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACCTGAATACCTGCAGCTTCA	0.592000													4	40					0.00024832	0.0002712	1	1	0
RELN	5649	broad.mit.edu	37	7	103293192	103293192	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103293192A>G	ENST00000428762.1	-	14	1728	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	RELN_ENST00000424685.2_Silent_p.V523V|RELN_ENST00000343529.5_Silent_p.V523V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	523					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCACAGAAACCAAAGACG	0.413000													8	119					0	0	1	0	0
P2RY6	0	broad.mit.edu	37	11	73007689	73007689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007689G>A	ENST00000393590.2	+	2	425	c.126G>A	c.(124-126)ccG>ccA	p.P42P	P2RY6_ENST00000542092.1_Silent_p.P42P|P2RY6_ENST00000349767.2_Silent_p.P42P|P2RY6_ENST00000540342.1_Silent_p.P42P|P2RY6_ENST00000540124.1_Silent_p.P42P|P2RY6_ENST00000393592.2_Silent_p.P42P|P2RY6_ENST00000393591.1_Silent_p.P42P|P2RY6_ENST00000538328.1_Silent_p.P42P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	42					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCCTGCCGCTGAACATCT	0.617000													68	79					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36272095	36272095	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36272095C>T	ENST00000007510.4	+	12	1170	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	ARHGAP33_ENST00000378944.5_Silent_p.H206H|ARHGAP33_ENST00000314737.5_Silent_p.H342H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.H342H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGAGGCCCACGGGGTGGTGG	0.647000													20	49					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180377294	180377294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180377294C>T	ENST00000273654.4	-	12	1555	c.936G>A	c.(934-936)gaG>gaA	p.E312E	CCDC39_ENST00000442201.2_Silent_p.E228E			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTATTGTGTTCTCCCATTGTT	0.368000													34	52					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7002978	7002978	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7002978G>A	ENST00000409757.4	+	7	1394	c.1270_splice	c.e7+1	p.E424_splice	TBC1D14_ENST00000446947.2_Splice_Site_p.E37_splice|TBC1D14_ENST00000410031.1_Splice_Site_p.E196_splice|TBC1D14_ENST00000448507.1_Splice_Site_p.E424_splice|TBC1D14_ENST00000451522.2_Splice_Site_p.E144_splice	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	424	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCACCCACGGTGAGTGGCC	0.517000													4	17					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52613635	52613635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52613635C>T	ENST00000399231.3	-	37	5040	c.4797G>A	c.(4795-4797)cgG>cgA	p.R1599R	MYO5A_ENST00000553916.1_Silent_p.R1597R|MYO5A_ENST00000358212.6_Silent_p.R1624R|MYO5A_ENST00000356338.6_Silent_p.R1572R|MYO5A_ENST00000399233.2_Silent_p.R1596R	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1599	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCAGCACCTGCCGATACTCAG	0.502000													45	51					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41223100	41223100	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41223100C>A	ENST00000216218.3	-	11	1462	c.981_splice	c.e11+1	p.Q327_splice		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	327	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAAGTCTTACCTGCATGGCTG	0.428000													7	50					8.12818e-05	8.99451e-05	1	1	0
MLH3	27030	broad.mit.edu	37	14	75513291	75513291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75513291C>A	ENST00000355774.2	-	2	3283	c.3068G>T	c.(3067-3069)aGt>aTt	p.S1023I	MLH3_ENST00000556257.1_Missense_Mutation_p.S1023I|MLH3_ENST00000556740.1_Missense_Mutation_p.S1023I|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S1023I|MLH3_ENST00000544985.1_Missense_Mutation_p.S18I|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1023					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGATTCCTCACTCTGAAAACA	0.443000								Mismatch excision repair (MMR)					10	135					3.07112e-06	3.52574e-06	1	1	0
NT5C3B	115024	broad.mit.edu	37	17	39992198	39992198	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39992198C>A	ENST00000435506.2	-	2	93	c.24G>T	c.(22-24)ctG>ctT	p.L8L	NT5C3B_ENST00000521789.1_Intron|NT5C3B_ENST00000269534.8_5'UTR					5'-nucleotidase, cytosolic IIIB																		TGGCCTTCATCAGGGTGCTCA	0.726000													3	2					0.115264	0.117355	1	1	0
SNX17	9784	broad.mit.edu	37	2	27599026	27599026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27599026G>T	ENST00000233575.2	+	12	1380	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SNX17_ENST00000543024.1_Missense_Mutation_p.K172N|SNX17_ENST00000537606.1_Missense_Mutation_p.K361N|SNX17_ENST00000542478.1_Missense_Mutation_p.K172N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	386					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGTGAAGAAATCTGGCG	0.512000													11	102					4.68919e-08	5.58064e-08	1	1	0
CYSTM1	84418	broad.mit.edu	37	5	139574094	139574094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139574094C>T	ENST00000261811.4	+	2	708	c.44C>T	c.(43-45)aCg>aTg	p.T15M	CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN	cysteine-rich transmembrane module containing 1	15	Pro-rich.																CCTGGTCCAACGGCCCCATAC	0.517000													32	68					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262515	69262515	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69262515T>G	ENST00000408913.2	-	1	675	c.497A>C	c.(496-498)aAa>aCa	p.K166T				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAAACGTCATTTCGGGGACTT	0.592000													14	65					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83279852	83279852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279852G>T	ENST00000313899.7	-	4	858	c.581C>A	c.(580-582)cCt>cAt	p.P194H	HNRNPD_ENST00000543098.1_Missense_Mutation_p.P142H|HNRNPD_ENST00000541060.1_Missense_Mutation_p.P40H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.P175H|HNRNPD_ENST00000353341.4_Missense_Mutation_p.P194H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	194	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTCTCTTCAGGTGTATCTGG	0.373000													5	89					0.0215528	0.0221649	1	1	0
ABCG1	9619	broad.mit.edu	37	21	43704782	43704782	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43704782C>T	ENST00000398437.1	+	8	1433	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	ABCG1_ENST00000398449.3_Silent_p.L283L|ABCG1_ENST00000347800.2_Silent_p.L280L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.L285L|ABCG1_ENST00000361802.2_Silent_p.L283L|ABCG1_ENST00000343687.3_Silent_p.L294L|ABCG1_ENST00000340588.4_Silent_p.L391L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	283	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTTCGAGCTGTTCGACCA	0.622000													4	66					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95452161	95452161	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95452161T>C	ENST00000333003.5	-	5	799	c.469A>G	c.(469-471)Att>Gtt	p.I157V	NR2C1_ENST00000393101.3_Missense_Mutation_p.I157V|NR2C1_ENST00000330677.7_Missense_Mutation_p.I157V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	157	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGCTTATTAATAATACAATCC	0.358000													30	47					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90025579	90025579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025579G>T	ENST00000418391.2	+	6	657	c.530G>T	c.(529-531)aGa>aTa	p.R177I	DEF8_ENST00000268676.7_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	0					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCGAGACCCAGACGAGGAGTG	0.557000													15	21					1.3612e-06	1.57881e-06	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101748843	101748843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101748843C>A	ENST00000506729.1	-	9	1648	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G431W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G493W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCAACTTCCCTGTTCTGTAA	0.303000													7	30					0.000157383	0.00017284	1	1	0
PCDHA11	0	broad.mit.edu	37	5	140250150	140250150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250150C>T	ENST00000398640.2	+	1	1462	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCGCTGGTGTCCTA	0.677000													34	65					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49426260	49426260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49426260G>A	ENST00000388901.5	-	8	834	c.761C>T	c.(760-762)gCa>gTa	p.A254V	COPS2_ENST00000542928.1_Missense_Mutation_p.A190V|COPS2_ENST00000299259.6_Missense_Mutation_p.A261V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	254	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAGTGTGTGCCTTTTCAAA	0.343000													26	44					0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762415	37762415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37762415C>A	ENST00000302584.4	-	2	658	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	146	Helix-loop-helix motif.				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGGGCACCACCTTGCGCAGGT	0.642000													14	17					4.93089e-13	6.23885e-13	1	1	0
ALKBH6	84964	broad.mit.edu	37	19	36501867	36501867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36501867G>T	ENST00000486389.1	-	4	944	c.196C>A	c.(196-198)Ctc>Atc	p.L66I	ALKBH6_ENST00000378875.3_Missense_Mutation_p.L117I|ALKBH6_ENST00000485128.1_Missense_Mutation_p.L89I|ALKBH6_ENST00000252984.7_Missense_Mutation_p.L89I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_Intron			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	89						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGAGGCTGAGGTTTGACACT	0.622000													5	28					3.59834e-05	4.01776e-05	1	1	0
AKAP8L	26993	broad.mit.edu	37	19	15508576	15508576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15508576G>T	ENST00000397410.4	-	10	1312	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	AKAP8L_ENST00000595465.1_Missense_Mutation_p.H355Q	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	416						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTACTTAAAGTGTTCCTTGT	0.517000													17	35					6.94344e-10	8.49476e-10	1	1	0
KCTD16	57528	broad.mit.edu	37	5	143853619	143853619	+	Missense_Mutation	SNP	G	G	A	rs147890155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:143853619G>A	ENST00000507359.2	+	3	2320	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R410Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATTCCAGATCGGTTTCCTGAG	0.383000													38	78					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626452	50626452	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626452T>C	ENST00000216373.5	-	10	1823	c.1549A>G	c.(1549-1551)Aaa>Gaa	p.K517E	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.K484E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	517	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTCATCTTTGGATACTAAT	0.343000													40	72					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076172	11076172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11076172G>A	ENST00000403050.3	+	9	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468000													25	55					0	0	1	0	0
TDGF1P3	0	broad.mit.edu	37	X	109764812	109764812	+	RNA	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109764812T>A	ENST00000602699.1	+	0	1273					NR_002718.2																						TGTGATGGCCTTGTGATGGAT	0.542000													7	54					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092152	78092152	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092152G>T	ENST00000302262.3	+	18	2861	c.2642G>T	c.(2641-2643)aGg>aTg	p.R881M	GAA_ENST00000390015.3_Missense_Mutation_p.R881M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	881					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCCTGGCCAGGAATGTGAGT	0.667000													6	51					0.00116845	0.00124821	1	1	0
CCDC102B	79839	broad.mit.edu	37	18	66721309	66721309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66721309C>A	ENST00000360242.5	+	8	1594	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L493M	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGAGGTCTCTGGATGAAGA	0.373000													35	42					4.0492e-12	5.08037e-12	1	1	0
PIGA	5277	broad.mit.edu	37	X	15350018	15350018	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15350018C>T	ENST00000428964.1	-	0	134				PIGA_ENST00000542278.1_Intron|PIGA_ENST00000333590.4_Missense_Mutation_p.R12H|PIGA_ENST00000482148.1_5'UTR			P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AGCTGAGGCACGGTGGCCATT	0.473000													37	68					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128987792	128987792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128987792G>A	ENST00000314797.6	+	18	1896	c.1792G>A	c.(1792-1794)Gca>Aca	p.A598T		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	598					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCCCATCACAGCAGTCAAACA	0.547000													34	44					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767297	73767297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767297C>T	ENST00000373115.4	+	3	945	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	170					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.R170C(1)		endometrium(1)|lung(5)	6						GCACATCGAGCGCACAGTGTC	0.657000													7	10					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226474112	226474112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226474112G>T	ENST00000328205.5	-	6	1039	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LIN9_ENST00000366801.1_Missense_Mutation_p.S114Y|LIN9_ENST00000481685.1_Missense_Mutation_p.S130Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	149	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATTAGGAAAAGATTCCTTTAG	0.313000													26	77					1.1804e-14	1.50872e-14	1	1	0
NCOA7	135112	broad.mit.edu	37	6	126236496	126236496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126236496C>T	ENST00000368357.3	+	12	2466	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	NCOA7_ENST00000229634.9_Missense_Mutation_p.T590I|NCOA7_ENST00000392477.2_Missense_Mutation_p.T705I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	705					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTGTACACATTCTTTGTT	0.433000													11	120					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42906780	42906780	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42906780G>A	ENST00000244289.4	-	9	3222	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	982					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGTGGCAGGCTCTTGAGCA	0.642000													9	19					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894044	23894044	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894044C>A	ENST00000355349.3	-	22	2775	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	871					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCAGCTCCTTGCGGCGAG	0.587000													5	47					1.23904e-05	1.39987e-05	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48556297	48556297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48556297C>A	ENST00000354276.3	-	16	1864	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Nonsense_Mutation_p.E523*	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	513	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCTTGTTTTCCCTGACATTC	0.478000													6	68					0.248553	0.25002	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74565152	74565152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565152C>T	ENST00000321288.5	+	9	1288	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P227S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	430							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGGGGCTGCCCATCACCCC	0.637000													16	27					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131605002	131605002	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131605002G>A	ENST00000436267.2	-	5	563	c.414C>T	c.(412-414)gaC>gaT	p.D138D	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Silent_p.D44D|CCBL1_ENST00000320665.6_Silent_p.D44D			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	44					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCACGGCAAAGTCTGGTGGTG	0.532000													13	20					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119999157	119999157	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119999157T>A	ENST00000341846.5	-	2	1272	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TRIM29_ENST00000529044.1_Missense_Mutation_p.E23V|TRIM29_ENST00000541857.1_Missense_Mutation_p.E17V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	284					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCCTCAATCTCAATGATCTT	0.552000													4	46					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	634048	634048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:634048C>A	ENST00000264935.5	+	5	767	c.677C>A	c.(676-678)tCt>tAt	p.S226Y	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	226					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.S226C(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GAGGCCGACTCTCGTGGTTCC	0.617000													4	67					0.00909568	0.00947522	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546114	85546114	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85546114A>G	ENST00000393217.2	+	20	4447	c.4386A>G	c.(4384-4386)acA>acG	p.T1462T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTCACAAACACTGCTTCTTT	0.393000													27	58					0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591515	153591515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153591515G>A	ENST00000326446.5	+	3	1173	c.462G>A	c.(460-462)tgG>tgA	p.W154*	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	154						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AAGGATTCTGGACTCTACTTA	0.353000													37	99					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951682	44951682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44951682G>A	ENST00000296125.4	+	11	1496	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	476					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCACATGTCGGTACAATCAG	0.483000													7	84					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267271	123267271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123267271G>A	ENST00000451558.1	+	11	1326	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ASB15_ENST00000540573.1_Missense_Mutation_p.G269R|ASB15_ENST00000275699.3_Missense_Mutation_p.G269R|ASB15_ENST00000434204.1_Missense_Mutation_p.G269R|ASB15_ENST00000451215.1_Missense_Mutation_p.G269R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	269					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGAGGAAGCGGAAATGTACC	0.493000													10	44					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382286	41382286	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382286T>A	ENST00000377801.3	-	2	528	c.454A>T	c.(454-456)Aaa>Taa	p.K152*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.K152*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	152	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGTGATATTTCTGCATCCCA	0.413000													54	91					0	0	1	0	0
HOMER3	0	broad.mit.edu	37	19	19049214	19049214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19049214C>T	ENST00000539827.1	-	3	903	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HOMER3_ENST00000392351.3_Missense_Mutation_p.R84H|HOMER3_ENST00000221222.11_Missense_Mutation_p.R84H|HOMER3_ENST00000433218.2_Missense_Mutation_p.R84H|HOMER3_ENST00000355887.6_Missense_Mutation_p.R84H|HOMER3_ENST00000594439.1_Missense_Mutation_p.R84H|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000542541.2_Missense_Mutation_p.R84H			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.592000													21	40					0	0	1	0	0
MT2A	4502	broad.mit.edu	37	16	56642952	56642952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56642952G>A	ENST00000245185.5	+	2	534	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	MT2A_ENST00000563985.1_3'UTR|MT2A_ENST00000561491.1_Missense_Mutation_p.C26Y	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	26	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						GAGTGCAAATGCACCTCCTGC	0.542000													22	30					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51089654	51089654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51089654C>T	ENST00000301180.5	+	16	1871	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	613						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGTAAAATGTCGGGACTTGCA	0.398000													41	79					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40725521	40725521	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40725521T>C	ENST00000393795.3	-	5	566	c.458A>G	c.(457-459)cAt>cGt	p.H153R	PSMC3IP_ENST00000587209.1_Missense_Mutation_p.H90R|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.H141R|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.H28R	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	153	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGAGTCACATGATTGGTAGC	0.522000													25	195					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155218211	155218211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155218211A>G	ENST00000361361.2	-	10	2073	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	FAM189B_ENST00000368368.3_Missense_Mutation_p.S504P|FAM189B_ENST00000350210.2_Missense_Mutation_p.S426P	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	522						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGCAGAGGAAACAGAAGCA	0.532000													20	25					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801376	80801376	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80801376C>T	ENST00000466387.1	+	17	2554	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	CTNNA2_ENST00000541047.1_Silent_p.I610I|CTNNA2_ENST00000496558.1_Silent_p.I610I|CTNNA2_ENST00000402739.4_Silent_p.I610I|CTNNA2_ENST00000343114.3_Silent_p.I289I|CTNNA2_ENST00000540488.1_Silent_p.I610I|CTNNA2_ENST00000361291.4_Silent_p.I644I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	610					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATGAGTTCATCGATGCCTCTC	0.517000													4	90					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18324238	18324238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18324238C>T	ENST00000355502.3	-	17	2419	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.E516E|PDE4C_ENST00000539010.1_Silent_p.E285E|PDE4C_ENST00000447275.2_Silent_p.E410E|PDE4C_ENST00000262805.11_Silent_p.E484E|PDE4C_ENST00000594617.2_Silent_p.E516E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	516					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCTTCTTGGTCTCCACCATGG	0.572000													4	15					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	G	A	rs139061737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208217962G>A	ENST00000367033.3	-	20	4522	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1255					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582000													24	22					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191818290	191818290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191818290G>T	ENST00000320717.3	+	15	1908		c.e15-1		GLS_ENST00000409428.1_Splice_Site	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTTCACAGGTAAAGTCAG	0.403000													11	166					1.08611e-07	1.2824e-07	1	1	0
SLC15A4	121260	broad.mit.edu	37	12	129299482	129299482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129299482G>A	ENST00000266771.5	-	2	719	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	227					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.A227V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498000													43	72					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42232516	42232516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42232516C>T	ENST00000373030.3	+	4	454	c.324C>T	c.(322-324)atC>atT	p.I108I	IFT52_ENST00000373039.4_Silent_p.I108I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	108						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATATGGAATCATGGTTAATA	0.343000													18	30					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102713310C>T	ENST00000299855.5	-	3	607	c.350_splice	c.e3-1	p.R117_splice		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378000													41	53					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19882975	19882975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19882975C>T	ENST00000400519.1	-	11	900	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	TXNRD2_ENST00000400521.1_Missense_Mutation_p.G302S|TXNRD2_ENST00000400525.1_Missense_Mutation_p.G279S|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G302S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G301S			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	302					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCCTCCTTGCCGGTGGTGCTG	0.662000													44	93					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8667996	8667996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8667996C>T	ENST00000317371.4	-	16	1845	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	SSUH2_ENST00000544814.1_Missense_Mutation_p.C229Y|SSUH2_ENST00000415132.1_Missense_Mutation_p.C207Y|SSUH2_ENST00000341795.3_Missense_Mutation_p.C207Y					ssu-2 homolog (C. elegans)									p.C207F(1)									TCTCCCTGAGCAAGTGCTGCA	0.572000													5	86					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192150425	192150425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192150425G>A	ENST00000367460.3	+	4	468	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	96	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATAGATGGACTAGAGGCT	0.269000													26	27					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73456972	73456972	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73456972T>C	ENST00000252034.7	+	6	660	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ELN_ENST00000380575.4_Silent_p.F77F|ELN_ENST00000380562.4_Silent_p.F87F|ELN_ENST00000320492.7_Silent_p.F75F|ELN_ENST00000380553.4_Intron|ELN_ENST00000357036.5_Silent_p.F87F|ELN_ENST00000380584.4_Silent_p.F87F|ELN_ENST00000320399.6_Silent_p.F87F|ELN_ENST00000458204.1_Silent_p.F77F|ELN_ENST00000380576.5_Silent_p.F87F|ELN_ENST00000445912.1_Silent_p.F87F|ELN_ENST00000414324.1_Silent_p.F77F|ELN_ENST00000429192.1_Silent_p.F87F|ELN_ENST00000358929.4_Silent_p.F87F	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	87					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGTTACCTTTCCGGGGGCTC	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						7	98					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20796502	20796502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20796502G>A	ENST00000328879.4	-	7	1919	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	KLHL22_ENST00000440659.2_Missense_Mutation_p.A445V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	588					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCACACAGGCCGCCAGGCC	0.667000													8	22					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018894	34018894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34018894C>A	ENST00000382499.2	-	24	3172	c.3173G>T	c.(3172-3174)aGt>aTt	p.S1058I	SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1014I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1058I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1019I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1019I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1019	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACTTCAGCACTATAGTCATC	0.448000													31	26					6.38683e-12	7.9998e-12	1	1	0
STOX1	219736	broad.mit.edu	37	10	70645583	70645583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70645583C>T	ENST00000298596.6	+	3	2114	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.G677G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.G567G	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	677						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCAGTTGGCGTGAACCCTT	0.428000													51	70					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12954952	12954952	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12954952G>T	ENST00000273221.4	-	9	2550	c.2334C>A	c.(2332-2334)atC>atA	p.I778I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	778	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAACAGGAAGATTTCTCGCT	0.577000													3	13					6.4e-05	7.11719e-05	1	1	0
PRLR	5618	broad.mit.edu	37	5	35070320	35070320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35070320A>T	ENST00000382002.5	-	7	1017	c.591T>A	c.(589-591)caT>caA	p.H197Q	PRLR_ENST00000511486.1_Missense_Mutation_p.H96Q|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Q|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.H197Q|PRLR_ENST00000231423.3_Missense_Mutation_p.H197Q|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	197	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGTCCTGGATGTAGGCTGA	0.438000													21	39					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20854314	20854314	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20854314G>A	ENST00000262715.5	-	20	2942	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TEP1_ENST00000556935.1_Silent_p.L860L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	968					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACAAACAGCTGTGCGTTC	0.542000													8	93					0	0	1	0	0
METTL20	254013	broad.mit.edu	37	12	31819145	31819145	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31819145G>T	ENST00000357721.3	+	3	654	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	METTL20_ENST00000538391.1_Intron|METTL20_ENST00000538463.1_Missense_Mutation_p.D147Y|METTL20_ENST00000412352.2_Missense_Mutation_p.D147Y|METTL20_ENST00000395763.3_Missense_Mutation_p.D147Y	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	147						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						CAATGACATAGACCCTAGTAA	0.383000													21	84					4.16121e-05	4.63705e-05	1	1	0
FKTN	2218	broad.mit.edu	37	9	108380347	108380347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108380347C>T	ENST00000223528.2	+	8	1142	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.L340F|FKTN_ENST00000448551.2_Missense_Mutation_p.L340F|FKTN_ENST00000357998.5_Missense_Mutation_p.L340F	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	340					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGATGCAGGACTTCCGCTCAA	0.333000													16	24					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71725431	71725431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71725431C>T	ENST00000393695.3	-	15	3449	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1040K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1040					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACACGCTGCTCGTTGAGGGCG	0.647000			T	RARA	APL								25	48					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71650590	71650590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71650590A>G	ENST00000226328.4	+	10	1628	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	RUFY3_ENST00000502653.1_Silent_p.L302L|RUFY3_ENST00000536664.1_Silent_p.L339L|RUFY3_ENST00000381006.3_Silent_p.L355L|RUFY3_ENST00000417478.2_Silent_p.L415L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	355					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAA	0.348000													3	14					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635762	34635762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34635762C>A	ENST00000342136.4	+	9	1831	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S502Y|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	502					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGTGACACTTCTGAGTCAGAT	0.493000													7	89					0.0293803	0.0301098	1	1	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323973	39323973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39323973C>T	ENST00000391356.2	-	1	451	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	151	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament		p.R151H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAAGCCGGGCGGCAGCAGGA	0.632000													11	7					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10411624	10411624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10411624G>A	ENST00000274140.5	+	19	2003	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R576H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R322H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R519H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	624					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCCTTACCGCCGACCTTTA	0.458000													16	26					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78647395	78647395	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78647395T>C	ENST00000504123.1	-	11	1511	c.1381A>G	c.(1381-1383)Aca>Gca	p.T461A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T461A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	461					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AAGCCATGTGTGATTCTCCCT	0.423000													23	221					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564									p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418000													10	82					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165638676	165638676	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:165638676A>G	ENST00000354775.4	-	7	1246	c.942T>C	c.(940-942)aaT>aaC	p.N314N	ALDH9A1_ENST00000538148.1_Silent_p.N220N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	290					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CTCTTGTGCCATTACAGCAAA	0.348000													13	40					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	685955	685955	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:685955A>T	ENST00000319815.6	-	2	1281	c.17T>A	c.(16-18)aTc>aAc	p.I6N	ENOSF1_ENST00000383578.3_Missense_Mutation_p.I154N|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.I257N|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I236N|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I160N			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	236					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTCTCGGATGATTTGGCATCT	0.433000													6	115					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281688	139281688	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139281688G>T	ENST00000406875.3	-	12	2586	c.2492C>A	c.(2491-2493)tCc>tAc	p.S831Y	HIPK2_ENST00000428878.2_Missense_Mutation_p.S804Y|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	831	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GACACGCTTGGATCGCTGTGG	0.607000													4	80					2.56e-06	2.9446e-06	1	1	0
RPS3	6188	broad.mit.edu	37	11	75115230	75115230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75115230C>T	ENST00000531188.1	+	5	579	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RPS3_ENST00000524851.1_Missense_Mutation_p.R173C|RPS3_ENST00000278572.6_Missense_Mutation_p.R189C|RPS3_ENST00000526608.1_Missense_Mutation_p.R161C|RPS3_ENST00000527446.1_Missense_Mutation_p.R173C|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	173					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CACTGCTGTGCGCCACGTGTT	0.507000													17	14					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8005992	8005992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8005992G>T	ENST00000344293.5	+	3	725	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	173					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTAATGATGAGAATTTCCTGG	0.493000													5	49					0.184627	0.186383	1	1	0
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43512939C>A	ENST00000300215.3	-	1	542	c.85G>T	c.(85-87)Gga>Tga	p.G29*	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602000													60	85					2.03967e-17	2.64614e-17	1	1	0
GABRR2	2570	broad.mit.edu	37	6	89977468	89977468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89977468C>T	ENST00000402938.3	-	6	799	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GABRR2_ENST00000602399.1_Silent_p.K247K			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	247					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ACAAGGAGATCTTCTCATCTG	0.403000													27	68					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941548	13941548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941548G>A	ENST00000254323.2	+	13	2843	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R719H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	885							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATTCTGCGCCGCTGGACTCTC	0.697000													6	73					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165).			integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGCCTTTAAGGGAAAAACCT	0.463000													5	56					0.0215528	0.0221649	1	1	0
KRT28	162605	broad.mit.edu	37	17	38953513	38953513	+	Silent	SNP	G	G	A	rs144466094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38953513G>A	ENST00000306658.7	-	4	776	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	237	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCCAGCCGCGCACTGCAGAG	0.557000													15	29					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48435115	48435115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48435115C>T	ENST00000324324.7	-	17	2072	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	MYEF2_ENST00000267836.6_Missense_Mutation_p.R574H	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	598	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATGCATTACGATCCAAGCG	0.363000													13	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455593	179455593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179455593C>T	ENST00000589042.1	-	304	61083	c.60859G>A	c.(60859-60861)Gca>Aca	p.A20287T	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11222T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17719T|TTN_ENST00000359218.5_Missense_Mutation_p.A11347T|TTN_ENST00000342175.6_Missense_Mutation_p.A11414T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18646T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18646	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTTGCTGCATTTTCAGTA	0.473000													40	47					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696370	107696370	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107696370G>A	ENST00000388781.3	-	25	3545	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	LAMB4_ENST00000388780.3_Silent_p.S1154S|LAMB4_ENST00000205386.4_Silent_p.S1154S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1154	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCTGGCCGCTGACACCCT	0.527000													43	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610944	179610944	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179610944A>C	ENST00000360870.5	-	46	16405	c.16183T>G	c.(16183-16185)Tca>Gca	p.S5395A	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCTGAATTTTCTGGA	0.333000													4	61					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160076222	160076222	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160076222C>T	ENST00000327245.5	-	8	1563	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTCTCACACACGATGGTAT	0.403000													8	66					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963178	166963178	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166963178G>T	ENST00000061240.2	+	11	1908		c.e11-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTCTTTTAGGTAGATTCTG	0.353000													5	118					1	1	1	1	0
UBE3A	7337	broad.mit.edu	37	15	25616697	25616697	+	Silent	SNP	G	G	T	rs112484472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25616697G>T	ENST00000232165.3	-	6	1280	c.624C>A	c.(622-624)tcC>tcA	p.S208S	UBE3A_ENST00000397954.2_Silent_p.S211S|UBE3A_ENST00000438097.1_Silent_p.S188S|UBE3A_ENST00000566215.1_Silent_p.S188S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Silent_p.S188S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	211					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTATCCTTGAGGAAGATGCTT	0.413000													23	212					6.44725e-10	7.89499e-10	1	1	0
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224477369G>A	ENST00000281701.6	-	13	1651	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_ENST00000469075.1_Silent_p.H373H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000361463.3_Silent_p.H358H|NVL_ENST00000340871.4_Silent_p.H275H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433000													18	34					0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55466181	55466181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55466181C>A	ENST00000254770.2	+	3	966	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	130					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTCCGATCCCTGGATTACGT	0.502000													6	64					8.12818e-05	8.99451e-05	1	1	0
RIPPLY3	53820	broad.mit.edu	37	21	38390258	38390258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38390258G>A	ENST00000329553.2	+	4	534	c.324G>A	c.(322-324)acG>acA	p.T108T	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		TGCAAGCCACGATTGACTTCT	0.522000													14	18					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65955939	65955939	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65955939A>G	ENST00000321892.4	+	26	8648	c.8587A>G	c.(8587-8589)Aag>Gag	p.K2863E	BPTF_ENST00000335221.5_Missense_Mutation_p.K2720E|BPTF_ENST00000306378.6_Missense_Mutation_p.K2737E|BPTF_ENST00000424123.3_Missense_Mutation_p.K2581E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2863					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGAAACTAAGAAGGACAC	0.388000													17	58					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86823402	86823402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86823402G>T	ENST00000414194.2	+	16	3006	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	DMTF1_ENST00000413276.2_Missense_Mutation_p.S601I|DMTF1_ENST00000331242.7_Missense_Mutation_p.S671I|DMTF1_ENST00000432937.2_Missense_Mutation_p.S583I|DMTF1_ENST00000394703.5_Missense_Mutation_p.S671I			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	671	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATTTAGCCAGTGCTTATGTT	0.398000													27	108					7.38237e-10	9.02878e-10	1	1	0
AIM1	202	broad.mit.edu	37	6	107000063	107000063	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107000063C>A	ENST00000369066.3	+	13	4707	c.4220C>A	c.(4219-4221)tCt>tAt	p.S1407Y	AIM1_ENST00000535438.1_Missense_Mutation_p.S226Y|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1407							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTAGGATTCTTTCACTGGC	0.279000													3	19					6.4e-05	7.11719e-05	1	1	0
MTMR12	54545	broad.mit.edu	37	5	32268851	32268851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32268851C>T	ENST00000382142.3	-	6	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	180						cytoplasm	phosphatase activity	p.R180Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378000													31	61					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060400	130060400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130060400C>T	ENST00000278742.5	+	7	1104	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	229	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ATGCGCTTCACCACGCCCGGC	0.701000													7	23					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74413270	74413270	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74413270T>C	ENST00000286544.3	-	2	480	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FAM161B_ENST00000534936.1_Silent_p.G31G	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ACAGCTCCTCTCCTGCCTCTG	0.473000													22	106					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157744	104157744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104157744C>T	ENST00000369966.3	+	9	918	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P223L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P223L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	223	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGAATCTCCGGGGGCATCA	0.478000			T	IGH@	B-NHL								37	66					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61750301	61750301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61750301T>C	ENST00000423902.2	+	18	4739	c.4260T>C	c.(4258-4260)taT>taC	p.Y1420Y	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1420	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATTCCTATGAAAGGGAAA	0.393000													6	7					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875739	75875739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75875739C>T	ENST00000266659.3	+	2	501	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	100					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAGAGAACATCTGGACTGGGT	0.473000													35	78					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121098961	121098961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121098961G>T	ENST00000453000.1	+	5	1347	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	CABP1_ENST00000351200.2_Missense_Mutation_p.D140Y|CABP1_ENST00000316803.3_Missense_Mutation_p.D343Y|CABP1_ENST00000288616.3_Missense_Mutation_p.D200Y			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	343	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGACACCGAGACATAGAGGA	0.527000													5	75					0.00116845	0.00124821	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176011940	176011940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011940C>A	ENST00000510636.1	+	19	2932	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	CDHR2_ENST00000506348.1_Silent_p.A886A|CDHR2_ENST00000261944.5_Silent_p.A886A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	886	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTACGAGGCCTGTGACCTGG	0.627000													5	4					0.0215528	0.0221649	1	1	0
CC2D2B	387707	broad.mit.edu	37	10	97769581	97769581	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97769581G>T	ENST00000371198.2	+	12	1334		c.e12-1		CC2D2B_ENST00000410012.2_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_Splice_Site|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000344386.3_Splice_Site			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		tattttCATAGGATCACTGTC	0.308000													12	48					7.03913e-09	8.47891e-09	1	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135094850	135094850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135094850G>T	ENST00000368563.2	-	17	2856	c.2500C>A	c.(2500-2502)Ctg>Atg	p.L834M	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.L834M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.L704M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.L427M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.L862M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	834					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGGAGGTCCAGCAGGTGGGCT	0.617000													4	63					1.024e-07	1.214e-07	1	1	0
AK9	221264	broad.mit.edu	37	6	109814755	109814755	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109814755G>A	ENST00000424296.2	-	41	5629	c.5553C>T	c.(5551-5553)tcC>tcT	p.S1851S	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTGTGTATTCGGAACCTTTGG	0.368000													26	41					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5433810	5433810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5433810C>T	ENST00000345221.3	-	12	4065	c.3511G>A	c.(3511-3513)Gct>Act	p.A1171T	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A1141T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1171T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1171T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1141T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1175T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1171					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTGGAGAGCCACAAAGTGA	0.542000													14	23					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992736	67992736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992736G>T	ENST00000397942.3	+	2	1148	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.E278*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	278					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGTCGCCCCAGAGATCTTCGT	0.582000													7	93					0.0293803	0.0301098	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954517	35954517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954517C>A	ENST00000274278.3	-	7	1716	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	453						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCAGCCGCTGTGCGGGGC	0.612000													10	20					0.000219431	0.000240782	1	1	0
CEBPE	1053	broad.mit.edu	37	14	23586947	23586947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23586947C>T	ENST00000206513.5	-	2	1119	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGTTCACTGCCTTCTTGCCC	0.647000													29	67					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634618	206634618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206634618G>A	ENST00000414007.1	+	19	2649	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1023	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCGCCTTCCGGCCTGTCAAGT	0.642000													28	26					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973311	116973311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116973311C>T	ENST00000368576.3	-	6	1249	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZUFSP_ENST00000368573.1_Silent_p.Q279Q|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	336						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CGTCTCACATCTGTGGCAGCA	0.393000													32	49					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632155	9632155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632155C>T	ENST00000570827.2	+	15	3361	c.2287C>T	c.(2287-2289)Cgt>Tgt	p.R763C	USP43_ENST00000570475.1_Missense_Mutation_p.R1069C|USP43_ENST00000285199.6_Missense_Mutation_p.R1074C			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1074					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCGCCTCCCTCGTAAAGCCAG	0.632000													22	24					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996205	40996205	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40996205C>T	ENST00000244565.3	-	9	1552	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Silent_p.Q488Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	488	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGGTAGTTCTGGATGGCGG	0.667000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853998	37853998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37853998C>T	ENST00000591471.1	+	9	2123	c.482C>T	c.(481-483)aCa>aTa	p.T161I	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.T416I|HKR1_ENST00000392153.3_Missense_Mutation_p.T415I|HKR1_ENST00000541583.2_Missense_Mutation_p.T373I|HKR1_ENST00000544914.1_Missense_Mutation_p.T161I|HKR1_ENST00000324411.4_Missense_Mutation_p.T434I			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	434					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTAAGGACACACACAGGA	0.473000													15	19					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421200	39421200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39421200G>A	ENST00000221431.6	-	1	336	c.177C>T	c.(175-177)gaC>gaT	p.D59D	SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Silent_p.D59D|SARS2_ENST00000600042.1_Silent_p.D59D|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	59					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGCTCTATGTCCAGCTGAG	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57717923	57717923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57717923C>A	ENST00000333493.4	+	9	1122	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	GPR97_ENST00000450388.3_Missense_Mutation_p.L201M|GPR97_ENST00000327655.6_Missense_Mutation_p.L111M|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCTGAATCTGGCCTTCTT	0.592000													9	83					0.000274275	0.000298791	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100481452	100481452	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100481452A>G	ENST00000370552.3	-	5	977	c.918T>C	c.(916-918)atT>atC	p.I306I	HPSE2_ENST00000370549.1_Silent_p.I248I|HPSE2_ENST00000370546.1_Silent_p.I306I|HPSE2_ENST00000404542.1_Silent_p.I194I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	306					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGGCCGCCCAATATTAGGGC	0.438000													13	32					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050380	110050380	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050380G>A	ENST00000369864.4	-	2	1504	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMIGO1_ENST00000369862.1_Silent_p.V385V			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	385					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGACCAGGACCACACTAA	0.537000													39	27					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874864	80874864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80874864C>T	ENST00000466387.1	+	22	3309	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A910V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A541V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A817V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A896V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	910					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGATGAAGGCTCCAGAGAAG	0.493000													67	93					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57294736	57294736	+	Silent	SNP	C	C	T	rs142605137		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57294736C>T	ENST00000288266.3	+	19	1923	c.1776C>T	c.(1774-1776)agC>agT	p.S592S		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	592	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGACATCAAGCGGGAGAAGTG	0.398000													5	213					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786041	3786041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3786041G>T	ENST00000262367.5	-	28	5533	c.4724C>A	c.(4723-4725)aCt>aAt	p.T1575N	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1537N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1575	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTACCTCAGTGGTTTCACT	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	71					1.58986e-06	1.84011e-06	1	1	0
FAM160B1	57700	broad.mit.edu	37	10	116603563	116603563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116603563G>A	ENST00000369248.4	+	7	1215	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A294T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	294										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCAGAGCCTGCGGCTGCAAA	0.473000													6	37					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237023145	237023145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237023145G>T	ENST00000366577.5	+	19	2360	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	MTR_ENST00000535889.1_Nonsense_Mutation_p.G656*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	656					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.G656*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCACAGGAGGGAAGAA	0.423000													22	38					5.35356e-11	6.64197e-11	1	1	0
JMJD7-PLA2G4B	0	broad.mit.edu	37	15	42138145	42138145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42138145C>T	ENST00000382448.4	+	21	2202	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	PLA2G4B_ENST00000452633.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.I731I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		500	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TTTCAGGTATCTGGAGCAACC	0.612000													23	38					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144083	50144083	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144083G>A	ENST00000376025.2	-	0	1422							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGATGAGCGATGGCTTCTG	0.483000													4	10					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189013034	189013034	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189013034T>G	ENST00000512729.1	-	7	1031	c.657A>C	c.(655-657)agA>agC	p.R219S	TRIML2_ENST00000326754.3_Missense_Mutation_p.R244S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	219	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTCATAGTTCTCAGGTCCT	0.512000													16	41					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467277	10467277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10467277G>A	ENST00000382483.3	-	4	4554	c.4331C>T	c.(4330-4332)gCa>gTa	p.A1444V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1444					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCCTCTGCGGGGCACGG	0.632000													17	192					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065970	168065970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168065970G>T	ENST00000367838.1	-	5	1188	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GPR161_ENST00000546300.1_Missense_Mutation_p.S178Y|GPR161_ENST00000367836.1_Missense_Mutation_p.S160Y|GPR161_ENST00000271357.5_Missense_Mutation_p.S292Y|GPR161_ENST00000537209.1_Missense_Mutation_p.S312Y|GPR161_ENST00000539777.1_Missense_Mutation_p.S214Y|GPR161_ENST00000367835.1_Missense_Mutation_p.S292Y|GPR161_ENST00000361697.2_Missense_Mutation_p.S292Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	292					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGGCCTCAGAGGCGATGAC	0.617000													6	73					3.59834e-05	4.01776e-05	1	1	0
PDE6B	5158	broad.mit.edu	37	4	656910	656910	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:656910G>A	ENST00000255622.6	+	15	1897	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	PDE6B_ENST00000429163.2_Silent_p.K339K|PDE6B_ENST00000496514.1_Silent_p.K618K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	618					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCTTGGCTAAGCTCCACGGCT	0.632000													4	39					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245662	167245662	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245662G>C	ENST00000308378.3	-	11	1799	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	WDR49_ENST00000476376.1_Missense_Mutation_p.D323E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAATACTGCAGTCTGCAGAGG	0.403000													20	31					0	0	1	0	0
NRIP3	56675	broad.mit.edu	37	11	9009126	9009126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9009126G>A	ENST00000309166.3	-	3	504	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NRIP3_ENST00000531090.1_Missense_Mutation_p.L131F	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAAGAGATGAGATTATATAGG	0.463000													42	49					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021117	242021117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242021117C>T	ENST00000310397.8	+	28	3942	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	SNED1_ENST00000342631.6_Silent_p.N1281N|SNED1_ENST00000405547.3_Silent_p.N1281N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1314	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTTCAGAAAACCCCTGTCAGA	0.607000													4	4					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83831684	83831684	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83831684T>G	ENST00000349129.2	+	11	1395	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F370V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F370V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	379					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGAAGTGTTTAGAACATT	0.338000													34	49					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246368	46246368	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246368G>A	ENST00000334344.6	+	15	4634	c.4462G>A	c.(4462-4464)Gac>Aac	p.D1488N	ARID2_ENST00000444670.1_Missense_Mutation_p.D1098N|ARID2_ENST00000457135.1_Missense_Mutation_p.D96N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D1339N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCAGTTCCCGACTCAGGATC	0.458000			"""N, S, F"""		hepatocellular carcinoma								31	58					0	0	1	0	0
DOK4	0	broad.mit.edu	37	16	57507814	57507814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57507814C>T	ENST00000566936.1	-	6	1034	c.738_splice	c.e6+1	p.R246_splice	DOK4_ENST00000340099.4_Splice_Site_p.R246_splice|DOK4_ENST00000569548.1_Splice_Site_p.R246_splice			Q8TEW6	DOK4_HUMAN	docking protein 4	246							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTGCCTCACCCTCACGTTCTT	0.652000													13	37					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828087	22828087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22828087C>A	ENST00000404138.1	+	5	1445	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	ZBTB40_ENST00000375647.4_Missense_Mutation_p.L312M|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	312					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGTGTCCCTGTTGAGGCT	0.443000													5	51					1.23904e-05	1.39987e-05	1	1	0
FBXO43	286151	broad.mit.edu	37	8	101153118	101153118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153118C>A	ENST00000428847.2	-	2	1680	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	455					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTTTTCCTCTTGCTTTT	0.423000													10	172					0.000978159	0.00105116	1	1	0
PM20D2	135293	broad.mit.edu	37	6	89862821	89862821	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89862821T>C	ENST00000275072.4	+	3	769	c.674T>C	c.(673-675)tTa>tCa	p.L225S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	225							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TGGGAAGGATTAAATGCATTA	0.358000													5	74					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465182	10465182	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465182C>A	ENST00000382483.3	-	4	6649	c.6426G>T	c.(6424-6426)caG>caT	p.Q2142H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2142					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCAGGCTGGGCCTCCC	0.617000													11	178					4.36969e-10	5.35656e-10	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3887498	3887498	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3887498C>T	ENST00000319331.3	+	2	1934	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	391	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACATCCGCTTCATGGAGCCCC	0.502000													6	65					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408334	70408334	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408334C>T	ENST00000264434.2	-	3	1163	c.784G>A	c.(784-786)Gct>Act	p.A262T	C2orf42_ENST00000420306.1_Missense_Mutation_p.A262T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	262										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AATTCCTGAGCCAGTGTCTCA	0.428000													5	59					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264593	61264593	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61264593C>A	ENST00000344731.5	+	8	1274	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339H	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTTCTTCTCCTTAAGATGAT	0.403000													36	46					6.70999e-13	8.46507e-13	1	1	0
AIM1L	55057	broad.mit.edu	37	1	26663841	26663841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26663841C>T	ENST00000527815.1	-	9	1101	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.R180Q	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	180	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGGTGGCCCCGGAAGCCCTC	0.602000													20	26					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2260576	2260576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2260576C>T	ENST00000328540.3	-	2	1243	c.127G>A	c.(127-129)Gct>Act	p.A43T	BRICD5_ENST00000562360.1_Missense_Mutation_p.A43T|BRICD5_ENST00000566018.1_Missense_Mutation_p.A43T	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		ACCCCCACAGCGGCcagcacc	0.657000													8	10					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61070156	61070156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61070156C>T	ENST00000301764.7	-	24	3407	c.3010G>A	c.(3010-3012)Gtc>Atc	p.V1004I	DDB1_ENST00000450997.2_Missense_Mutation_p.V315I|DDB1_ENST00000538470.1_Missense_Mutation_p.V51I|DDB1_ENST00000451943.2_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1004	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGACATTGACAAACTCGCCC	0.562000								Nucleotide excision repair (NER)					10	121					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152737985G>A	ENST00000367255.5	-	41	6188	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R1900W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1863W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1870W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAGCTGCCGCCTCTCCACA	0.602000										HNSCC(10;0.0054)			7	62					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332022	70332022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70332022G>T	ENST00000338508.4	-	32	4378	c.4379C>A	c.(4378-4380)tCt>tAt	p.S1460Y	SHANK2_ENST00000423696.2_Missense_Mutation_p.S1080Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.S864Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.S863Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1080	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTGTCTGCAGAGTTGGTTGG	0.572000													4	69					0.00909568	0.00947522	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	G	A	rs150168072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73179425G>A	ENST00000286657.4	-	12	1750	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393000													19	29					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183961690	183961690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183961690A>G	ENST00000455059.1	-	6	1155	c.701T>C	c.(700-702)gTg>gCg	p.V234A	ALG3_ENST00000463495.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.V218A|ALG3_ENST00000445626.2_Missense_Mutation_p.V226A|ALG3_ENST00000397676.3_Missense_Mutation_p.V274A			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	274					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCCAGTTCACTGTCCAGTG	0.637000													7	30					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926799	43926799	+	Missense_Mutation	SNP	G	G	A	rs144891068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43926799G>A	ENST00000262726.7	-	31	4532	c.4279C>T	c.(4279-4281)Cgt>Tgt	p.R1427C	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1275C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1427	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCTGAATACGCAGCAGAGCA	0.542000													23	30					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128124975	128124975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128124975C>T	ENST00000470056.1	+	25	4412	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1472*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1437*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1424*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q1397*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1445*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1463*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1463	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGTGGATGCAGTTCACAGC	0.458000													34	38					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66757651	66757651	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66757651T>C	ENST00000258198.2	-	13	1659	c.1453A>G	c.(1453-1455)Aac>Gac	p.N485D	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.N408D|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	485					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTTGAAGAGTTTGTTACCATA	0.353000													11	39					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739839	21739839	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21739839T>C	ENST00000399496.3	+	5	1110	c.945T>C	c.(943-945)gcT>gcC	p.A315A	CABYR_ENST00000581397.1_Silent_p.A315A|CABYR_ENST00000399499.1_Silent_p.A315A|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Silent_p.A217A|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCAGAATGCTAATCCTCCAA	0.438000													8	136					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692852	20692852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20692852C>T	ENST00000315519.2	+	1	1062	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TAACAGTTAGCCAAAACTGAG	0.368000													32	58					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351700	74351700	+	Missense_Mutation	SNP	C	C	A	rs149614377		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74351700C>A	ENST00000226355.3	+	4	485	c.392C>A	c.(391-393)tCt>tAt	p.S131Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	131	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAAGAAATCTGATGTGGGA	0.413000													37	44					2.32173e-10	2.85835e-10	1	1	0
PSRC1	84722	broad.mit.edu	37	1	109823528	109823528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109823528G>A	ENST00000438534.2	-	5	1003	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PSRC1_ENST00000369903.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369904.3_Missense_Mutation_p.P225L|PSRC1_ENST00000369907.3_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369909.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409267.1_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409138.2_Nonsense_Mutation_p.R289*	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	289	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGTGGCATTCGGCTGGCAGGC	0.612000													38	22					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277640	116277640	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116277640A>G	ENST00000606080.1	-	5	1379	c.933T>C	c.(931-933)caT>caC	p.H311H	FRK_ENST00000538210.1_Silent_p.H169H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	311	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GCAGACTTCCATGTCTCATCA	0.333000													5	80					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149508800C>T	ENST00000378016.2	+	0	9539							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.642000													49	37					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427530	135427530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135427530G>T	ENST00000394143.1	+	6	1956	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	GPR112_ENST00000412101.1_Missense_Mutation_p.K350N|GPR112_ENST00000370652.1_Missense_Mutation_p.K555N|GPR112_ENST00000287534.4_Missense_Mutation_p.K492N|GPR112_ENST00000394141.1_Missense_Mutation_p.K350N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	555					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCTAAGACCTTTTCTT	0.408000													25	46					4.72057e-08	5.61655e-08	1	1	0
FBN1	2200	broad.mit.edu	37	15	48714159	48714159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48714159C>T	ENST00000316623.5	-	61	8015	c.7560G>A	c.(7558-7560)acG>acA	p.T2520T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAATGCAGGACGTATGGTGTT	0.428000													13	36					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746643	746643	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:746643C>T	ENST00000264560.7	+	8	1055	c.861C>T	c.(859-861)atC>atT	p.I287I	PALM_ENST00000338448.5_Silent_p.I331I|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	331					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TGGTGGTCATCGAAGACGCGG	0.627000													8	10					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37967910	37967910	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37967910T>C	ENST00000343823.6	+	4	724	c.415T>C	c.(415-417)Ttc>Ctc	p.F139L	ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000250635.7_Missense_Mutation_p.F45L|ASH2L_ENST00000428278.2_Missense_Mutation_p.F45L|ASH2L_ENST00000521652.1_Missense_Mutation_p.F45L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	139					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	p.F139L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTCTACCTTTCATGACCAA	0.408000													10	74					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463000													32	48					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220928369	220928369	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220928369A>G	ENST00000366913.3	+	2	551	c.353A>G	c.(352-354)tAt>tGt	p.Y118C	MARC2_ENST00000359316.2_Missense_Mutation_p.Y118C	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	118						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TCCATCATTTATGAGAATAAC	0.512000													9	132					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618741	141618741	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141618741A>G	ENST00000548136.1	+	1	125	c.66A>G	c.(64-66)ctA>ctG	p.L22L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGAAGAACTACATCATATCC	0.378000													5	326					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027655	161027655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161027655G>T	ENST00000447678.1	-	18	2759	c.2639C>A	c.(2638-2640)cCt>cAt	p.P880H	LPA_ENST00000316300.5_Missense_Mutation_p.P880H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTGCCACAGGATCTGGATT	0.537000													56	72					1.80625e-27	2.41067e-27	1	1	0
DOK4	0	broad.mit.edu	37	16	57509501	57509501	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57509501G>A	ENST00000566936.1	-	3	503	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DOK4_ENST00000340099.4_Missense_Mutation_p.T69M|DOK4_ENST00000569548.1_Missense_Mutation_p.T69M|DOK4_ENST00000561918.1_5'UTR			Q8TEW6	DOK4_HUMAN	docking protein 4	69	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GGGGAGCCGCGTAACACACTT	0.572000													5	7					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600336	141600336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141600336A>G	ENST00000442267.2	-	5	685	c.611T>C	c.(610-612)gTa>gCa	p.V204A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	204	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTGATGTCTACCCACCGGAT	0.488000													38	54					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281063	152281063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281063G>T	ENST00000368799.1	-	3	6334	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2100	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGACTCAGACTGTTCATG	0.567000									Ichthyosis				21	223					4.96729e-08	5.9048e-08	1	1	0
ESCO2	157570	broad.mit.edu	37	8	27657152	27657152	+	Missense_Mutation	SNP	C	C	T	rs144956719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27657152C>T	ENST00000305188.8	+	10	1830	c.1592C>T	c.(1591-1593)gCa>gTa	p.A531V	ESCO2_ENST00000397418.2_Missense_Mutation_p.A179V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	531					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCAGAACCTGCAGTCTGTGGG	0.463000									SC Phocomelia syndrome				50	88					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86914578	86914578	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86914578A>G	ENST00000376238.4	-	6	636	c.587T>C	c.(586-588)tTg>tCg	p.L196S	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L127S	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	196					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTTGACCCAATTTGGCAGT	0.463000													4	91					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62254064	62254064	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62254064T>A	ENST00000261517.5	-	35	3705	c.3632A>T	c.(3631-3633)aAa>aTa	p.K1211I	VPS13C_ENST00000395896.4_Missense_Mutation_p.K1211I|VPS13C_ENST00000249837.3_Missense_Mutation_p.K1168I|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1168I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1211					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGAGACTCTTTGGCTGTCTG	0.418000													4	57					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10597987	10597987	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10597987A>G	ENST00000547195.1	-	20	2858	c.2358T>C	c.(2356-2358)tcT>tcC	p.S786S	LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.S877S|MRVI1_ENST00000531107.1_Silent_p.S869S|MRVI1_ENST00000545852.1_Silent_p.S562S|MRVI1_ENST00000424001.1_Silent_p.S562S|MRVI1_ENST00000552103.1_Silent_p.S786S|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Silent_p.S868S|MRVI1_ENST00000558540.1_Silent_p.S562S|MRVI1_ENST00000436272.1_Silent_p.S850S|MRVI1_ENST00000534266.2_Silent_p.S562S|MRVI1_ENST00000527509.2_Silent_p.S786S|MRVI1_ENST00000541483.1_Silent_p.S671S	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	850	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTCTGCACAAGAGTTATAGG	0.552000													34	40					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900121C>T	ENST00000286201.1	+	1	812	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	251					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGAGGAGAGGCGCTTCGCCCG	0.657000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755570	146755570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146755570C>A	ENST00000361719.2	+	9	3693	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.L1075M|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1075	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGCACCTGCAGATGCT	0.692000													5	51					0.014758	0.0152625	1	1	0
ANK2	287	broad.mit.edu	37	4	114278095	114278095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278095G>A	ENST00000357077.4	+	38	8374	c.8321G>A	c.(8320-8322)gGc>gAc	p.G2774D	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741D|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2741					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488000													5	49					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9270912	9270912	+	Silent	SNP	C	C	T	rs144830860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9270912C>T	ENST00000247956.6	+	7	896	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ZNF317_ENST00000360385.3_Silent_p.R165R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCACCGCCGCGACTATGGGG	0.542000													8	16					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160488	51160488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160488G>T	ENST00000414786.2	+	21	4412	c.4185G>T	c.(4183-4185)aaG>aaT	p.K1395N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1411N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1425N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1425										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TACTCGAGAAGCCACCAGTGC	0.622000													4	11					0.184627	0.186383	1	1	0
PHRF1	57661	broad.mit.edu	37	11	607285	607285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:607285C>T	ENST00000264555.5	+	14	1957	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A609V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A606V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A608V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	610							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGGGCGGTTCAGGCT	0.667000													36	45					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71272511	71272511	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71272511A>C	ENST00000260382.5	+	10	1253	c.993A>C	c.(991-993)caA>caC	p.Q331H	LRRC49_ENST00000560158.2_Missense_Mutation_p.Q19H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q37H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q287H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q336H|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q321H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	331						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATAAACAATCTTTGCTTA	0.403000													20	22					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45784155	45784155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45784155A>G	ENST00000397928.1	+	3	858	c.413A>G	c.(412-414)aAg>aGg	p.K138R	TRPM2_ENST00000300482.5_Missense_Mutation_p.K138R|TRPM2_ENST00000300481.9_Missense_Mutation_p.K138R|TRPM2_ENST00000397932.2_Missense_Mutation_p.K138R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAGCCAGAAGGTGAAAAAG	0.577000													5	63					0	0	1	0	0
RAET1L	154064	broad.mit.edu	37	6	150342236	150342236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150342236G>A	ENST00000367341.1	-	3	435	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	RAET1L_ENST00000286380.2_Nonsense_Mutation_p.Q146*			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	146	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		AGGAAGGTCTGTCCATCGATA	0.502000													51	84					0	0	1	0	0
DPF1	0	broad.mit.edu	37	19	38713067	38713067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38713067G>A	ENST00000416611.1	-	3	354	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DPF1_ENST00000412732.1_Silent_p.R21R|DPF1_ENST00000420980.2_Silent_p.R103R|DPF1_ENST00000414789.1_Silent_p.R21R|DPF1_ENST00000456296.1_Silent_p.R77R|DPF1_ENST00000355526.4_Silent_p.R103R			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	103					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCCAACAGCGGGCGGGGT	0.692000													63	86					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22188562	22188562	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22188562G>T	ENST00000374695.3	-	38	4866	c.4787C>A	c.(4786-4788)cCt>cAt	p.P1596H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1596	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGTAGCCAGGGGCACAAAG	0.612000													8	65					0.000157383	0.00017284	1	1	0
UCMA	221044	broad.mit.edu	37	10	13276280	13276280	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276280G>A	ENST00000378681.3	-	0	51				UCMA_ENST00000463405.2_De_novo_Start_OutOfFrame	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated							proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TAGGGGCTCCGTCCAGGACCC	0.627000													10	13					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35750902	35750902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35750902G>A	ENST00000378078.4	+	5	544	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	RGP1_ENST00000456972.2_Missense_Mutation_p.V175I	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	135										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAAGTACGTCTACAAACT	0.542000													16	28					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509032	149509032	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149509032G>A	ENST00000378016.2	+	0	9578							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTTGGAGCCAGTGTTCA	0.682000													9	40					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084983	58084983	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58084983T>C	ENST00000196489.3	-	4	511	c.289A>G	c.(289-291)Agt>Ggt	p.S97G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGGATGGACTGGCCTCTGGA	0.498000													3	53					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46774548	46774548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46774548G>A	ENST00000262738.3	-	23	7322	c.7323C>T	c.(7321-7323)gtC>gtT	p.V2441V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2441	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCAGGCGACATGTGTCC	0.657000													4	4					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743783	31743783	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31743783G>A	ENST00000375686.3	-	3	708	c.471C>T	c.(469-471)acC>acT	p.T157T	VWA7_ENST00000375688.4_Silent_p.T157T|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Silent_p.T157T	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	157						extracellular region											GGCGAGCCAGGGTGTGGTCAA	0.667000													43	56					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57755401	57755401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57755401G>A	ENST00000414468.2	+	2	141	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ZNF805_ENST00000354309.4_Intron|ZNF805_ENST00000535550.1_Intron	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AAAACTGTGGGCTCCTGGTAT	0.592000													9	13					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906421	144906421	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906421C>A	ENST00000529945.1	-	14	3364	c.2925_splice	c.e14+1	p.K975_splice	PDE4DIP_ENST00000530740.1_Splice_Site_p.K949_splice|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878_splice|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975_splice|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599_splice|PDE4DIP_ENST00000369359.4_Splice_Site_p.K949_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.K812_splice|PDE4DIP_ENST00000369351.3_Splice_Site_p.K812_splice|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	812					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGAAAGACCTTTATGAGAT	0.443000			T	PDGFRB	MPD								6	160					3.59834e-05	4.01776e-05	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586209	56586209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586209C>A	ENST00000336078.4	+	4	1466	c.690C>A	c.(688-690)agC>agA	p.S230R	ZNF532_ENST00000591230.1_Missense_Mutation_p.S230R|ZNF532_ENST00000589288.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591083.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591808.1_Missense_Mutation_p.S230R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAGGAAAGCTCTGACAAGG	0.438000													7	75					8.12818e-05	8.99451e-05	1	1	0
UBA3	9039	broad.mit.edu	37	3	69120750	69120750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69120750G>A	ENST00000361055.4	-	5	337	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	UBA3_ENST00000349511.4_Nonsense_Mutation_p.Q81*|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Nonsense_Mutation_p.Q54*	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	95					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACATGAATCTGTCTAAAACCA	0.299000													6	31					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126094005	126094005	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126094005C>A	ENST00000368845.5	-	5	740	c.648_splice	c.e5+1	p.E216_splice	OAT_ENST00000539214.1_Splice_Site_p.E78_splice|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	AGTGAAATACCTCCAGTGCGG	0.393000													8	52					1.12685e-05	1.27857e-05	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30691945	30691945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30691945C>A	ENST00000295754.5	+	3	829	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.F174L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	149					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCATCTTCTCAGAAGGTG	0.428000													47	70					6.08268e-21	7.99347e-21	1	1	0
RAB4B-EGLN2	0	broad.mit.edu	37	19	41292767	41292767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41292767G>A	ENST00000594136.1	+	7	646	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RAB4B_ENST00000594800.1_Missense_Mutation_p.E181K|RAB4B_ENST00000357052.2_Missense_Mutation_p.E181K|RAB4B-EGLN2_ENST00000601949.1_3'UTR																							GCTAGACCCGGAGAGGATGGG	0.701000													15	49					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116840374	116840374	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116840374C>T	ENST00000265132.3	-	1	378	c.117_splice	c.e1+1	p.R39_splice		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	39					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642000													5	66					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288606	33288606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33288606C>T	ENST00000374542.5	-	3	1150	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	DAXX_ENST00000414083.2_Missense_Mutation_p.A241T|DAXX_ENST00000266000.6_Missense_Mutation_p.A316T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	316					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTCGGAAGGCATCCTGAGCC	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								43	68					0	0	1	0	0
ATP5L2	267020	broad.mit.edu	37	22	43036038	43036038	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43036038A>G	ENST00000505920.1	-	1	569	c.243T>C	c.(241-243)acT>acC	p.T81T	CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	81					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						TCGACACCTCAGTGGCCACCA	0.438000													5	31					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19712004	19712004	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19712004G>A	ENST00000264203.3	-	4	781	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CAPZB_ENST00000401084.2_Silent_p.S70S|CAPZB_ENST00000375142.1_Silent_p.S70S|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264202.6_Silent_p.S70S|CAPZB_ENST00000433834.1_Silent_p.S99S|CAPZB_ENST00000375144.1_Silent_p.S58S			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCACCTATAGGAGTCCCCAT	0.567000													18	30					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166385	79166385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79166385G>A	ENST00000269392.4	-	20	2694	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	AZI1_ENST00000575907.1_Missense_Mutation_p.A780V|AZI1_ENST00000450824.2_Missense_Mutation_p.A813V|AZI1_ENST00000374782.3_Missense_Mutation_p.A777V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	816					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCCAGCTCCGCCCGCTGCCT	0.682000													9	4					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133153	64133153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133153G>A	ENST00000295902.6	-	7	1598	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A394V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	338						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCAATTTTGGCACTGCGCCG	0.602000													59	103					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33261844	33261844	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33261844C>A	ENST00000497454.1	-	12	1849		c.e12-1		RGL2_ENST00000437840.2_Splice_Site|RGL2_ENST00000444031.2_Splice_Site|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTATCCATTCTGCGAGGAAA	0.517000													12	177					0.000978159	0.00105116	1	1	0
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	C	T	rs148654230	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483000													19	44					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183643470	183643470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183643470G>A	ENST00000334444.6	-	29	4325	c.4085C>T	c.(4084-4086)aCa>aTa	p.T1362I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T1319I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1362	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTGTCTCTGTGTCCATGGC	0.458000													22	47					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89598878	89598878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89598878C>T	ENST00000268704.2	+	9	1173	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	SPG7_ENST00000341316.2_Silent_p.G386G	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	386					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGCCTCGGCGCTGCCCGTG	0.577000													23	45					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23556017	23556017	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23556017C>T	ENST00000449606.1	-	3	334	c.303G>A	c.(301-303)ccG>ccA	p.P101P	EARS2_ENST00000563459.1_Silent_p.P101P|EARS2_ENST00000563232.1_Silent_p.P101P|EARS2_ENST00000564501.1_Silent_p.P101P|EARS2_ENST00000564987.1_Intron	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	101					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCATCAGGCGGGATGCCTG	0.562000													5	6					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39477781	39477781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39477781G>A	ENST00000263881.3	-	34	2987	c.2663C>T	c.(2662-2664)gCg>gTg	p.A888V	MAP4K3_ENST00000341681.5_Missense_Mutation_p.A867V|MAP4K3_ENST00000536018.1_Missense_Mutation_p.A441V|MAP4K3_ENST00000437545.1_Missense_Mutation_p.A804V	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	888					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTCATGACCCGCCAGGATGTA	0.378000													21	32					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219608	42219608	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42219608C>A	ENST00000221992.6	+	4	857	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CEACAM5_ENST00000398599.4_Missense_Mutation_p.S248Y|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S248Y|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	248	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTAAACACATCTTACAGATCA	0.507000													5	52					0.000602214	0.000649039	1	1	0
WDR70	55100	broad.mit.edu	37	5	37703146	37703146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37703146G>A	ENST00000265107.4	+	13	1529	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423000													34	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528763	179528763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528763G>A	ENST00000589042.1	-	169	36567	c.36343C>T	c.(36343-36345)Cct>Tct	p.P12115S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10264	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACTTCAGGCTTTTTAGGA	0.383000													29	61					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101478228	101478228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101478228G>A	ENST00000370483.5	-	7	912	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	COX15_ENST00000016171.5_Missense_Mutation_p.L288F|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	288					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTATAAACAAGCCCAGCATCT	0.433000													5	70					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239098610	239098610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239098610G>T	ENST00000254654.3	-	4	357	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	61						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTGGCAAGAGAACCTGGAAA	0.438000													7	62					2.0095e-06	2.31757e-06	1	1	0
AUTS2	26053	broad.mit.edu	37	7	69364466	69364466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:69364466G>A	ENST00000342771.4	+	2	825	c.504G>A	c.(502-504)atG>atA	p.M168I	AUTS2_ENST00000403018.2_Missense_Mutation_p.M168I|AUTS2_ENST00000406775.2_Missense_Mutation_p.M168I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	168										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAAGAAAATGCCGAAGGCAC	0.502000													49	46					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864926	6864926	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864926C>A	ENST00000307659.5	+	7	3272	c.2817C>A	c.(2815-2817)acC>acA	p.T939T	KIAA0232_ENST00000425103.1_Silent_p.T939T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	939							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACTCAAAACCTTCAATAGTG	0.448000													4	52					0.00909568	0.00947522	1	1	0
ZMYM5	9205	broad.mit.edu	37	13	20398892	20398892	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20398892A>G	ENST00000337963.4	-	8	1999	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	579						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gaataaagtaaccaggatcta	0.323000													4	6					0	0	1	0	0
MRPS26	64949	broad.mit.edu	37	20	3028480	3028480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3028480G>A	ENST00000380325.3	+	4	707	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	195					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587000													4	34					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169611	42169611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42169611C>A	ENST00000373135.3	+	19	2294	c.2162C>A	c.(2161-2163)aCt>aAt	p.T721N	L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T789N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T789N|L3MBTL1_ENST00000444063.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCTGGGAAGACTCTAGTCTGG	0.562000													7	43					0.0293803	0.0301098	1	1	0
GPI	2821	broad.mit.edu	37	19	34890140	34890140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34890140C>T	ENST00000415930.3	+	15	1501	c.1331C>T	c.(1330-1332)aCa>aTa	p.T444I	GPI_ENST00000586425.1_Missense_Mutation_p.T433I|GPI_ENST00000356487.5_Missense_Mutation_p.T433I	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	433					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCCCAGACAGAGGCCCTG	0.587000													9	22					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104164	5104164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5104164T>C	ENST00000396912.1	+	5	1596	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.H359H|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	359					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAAGACACATCTCACCCTGC	0.473000													39	38					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112048	59112048	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59112048A>G	ENST00000589222.1	+	17	1727	c.1659A>G	c.(1657-1659)caA>caG	p.Q553Q	BCAS3_ENST00000588462.1_Silent_p.Q568Q|BCAS3_ENST00000588874.1_Silent_p.Q324Q|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.Q568Q|BCAS3_ENST00000407086.3_Silent_p.Q553Q|BCAS3_ENST00000585744.1_Silent_p.Q339Q|BCAS3_ENST00000408905.3_Silent_p.Q553Q			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	568						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCTCCACAAATTTCACCCA	0.353000													6	63					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580505	53580505	+	Missense_Mutation	SNP	G	G	A	rs141274422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53580505G>A	ENST00000371494.4	-	3	483	c.356C>T	c.(355-357)gCg>gTg	p.A119V	SLC1A7_ENST00000371491.4_Missense_Mutation_p.A119V|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	119						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTCTGGGCCGCGCTGCCTGG	0.622000													19	12					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61608152	61608152	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608152C>A	ENST00000278840.4	+	4	1203	c.573C>A	c.(571-573)ccC>ccA	p.P191P	FADS2_ENST00000257261.6_Silent_p.P169P|FADS2_ENST00000522056.1_Silent_p.P160P|FADS2_ENST00000521849.1_Silent_p.P191P	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	191					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACAGAAAACCCAAGTGGAACC	0.532000													5	105					0.217242	0.218821	1	1	0
LINGO3	645191	broad.mit.edu	37	19	2290284	2290284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2290284G>A	ENST00000585527.1	-	1	1739	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R498C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	498						integral to membrane				lung(1)|urinary_tract(1)	2						GGCTCGGGGCGCACGGTCAGC	0.736000													4	6					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130708	45130708	+	Nonsense_Mutation	SNP	G	G	A	rs143794973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45130708G>A	ENST00000457685.2	-	6	2479	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R447*|ZNF334_ENST00000347606.4_Nonsense_Mutation_p.R424*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGACTTCTTCGATGCACATTG	0.418000													59	91					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94877622	94877622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94877622C>A	ENST00000262554.2	-	1	36	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.V11L	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	11						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCATCTCCACCAGAACCCAC	0.657000													12	23					1.3612e-06	1.57881e-06	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777163	25777163	+	Missense_Mutation	SNP	T	T	C	rs150527531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25777163T>C	ENST00000377905.4	+	10	1363	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SLC17A4_ENST00000439485.2_Missense_Mutation_p.V185A|SLC17A4_ENST00000397076.2_Missense_Mutation_p.V213A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGAGCCCTTGTTAACTTCTTG	0.498000													33	39					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49448778	49448778	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49448778T>A	ENST00000335783.3	+	6	556	c.462T>A	c.(460-462)ggT>ggA	p.G154G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	154					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATGAAGAAGGTCTGGCATTAC	0.358000													6	57					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20711921C>T	ENST00000315409.2	+	1	1024	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398000													27	45					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35641812	35641812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35641812G>T	ENST00000353139.5	-	4	879	c.398C>A	c.(397-399)tCt>tAt	p.S133Y	ACACA_ENST00000335166.5_Missense_Mutation_p.S18Y|ACACA_ENST00000360679.3_Missense_Mutation_p.S38Y|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S96Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	96	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCGTTGAGAATCTATTTT	0.388000													34	80					5.91797e-21	7.77867e-21	1	1	0
ACAD11	84129	broad.mit.edu	37	3	132278741	132278741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132278741C>T	ENST00000264990.6	-	19	3135	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	ACAD11_ENST00000545291.1_Missense_Mutation_p.V247I|ACAD11_ENST00000355458.3_Missense_Mutation_p.V618I	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCCAGTCAACGATTTTGCTG	0.438000													9	20					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91947962	91947962	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91947962A>C	ENST00000554684.1	-	4	1369	c.873T>G	c.(871-873)tcT>tcG	p.S291S	SMEK1_ENST00000337238.4_Silent_p.S291S|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Silent_p.S291S			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	291						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAAAGATAAAAGAGTGAAGTG	0.338000													11	20					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023358	39023358	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39023358G>T	ENST00000355481.4	+	77	11357	c.11226G>T	c.(11224-11226)gaG>gaT	p.E3742D	RYR1_ENST00000359596.3_Missense_Mutation_p.E3747D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3747D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3747					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAAGAGGAGGTTGAGGTCT	0.587000													3	29					0.00024832	0.0002712	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493000													15	21					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73261787	73261787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73261787C>A	ENST00000579002.1	+	4	1014	c.599C>A	c.(598-600)cCt>cAt	p.P200H	MRPS7_ENST00000245539.6_Missense_Mutation_p.P171H			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	171					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCCAGGTCCCTGTACCCCTA	0.582000													12	33					0.000219431	0.000240782	1	1	0
SLC2A14	144195	broad.mit.edu	37	12	7985401	7985401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7985401C>T	ENST00000543909.1	-	8	856	c.97G>A	c.(97-99)Gct>Act	p.A33T	SLC2A14_ENST00000539924.1_Missense_Mutation_p.A48T|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A10T|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A33T|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A10T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	33					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAGATCAGAGCTGGGGTGACC	0.468000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61252177	61252177	+	Silent	SNP	C	C	T	rs142294307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61252177C>T	ENST00000338608.2	+	5	524	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PPP1R32_ENST00000432063.2_Silent_p.F133F|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	133																	AGGTCCATTTCGACACCCAGG	0.642000													9	9					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053929	119053929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119053929G>A	ENST00000409109.1	+	10	3296	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	NLRX1_ENST00000409991.1_Silent_p.G903G|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Silent_p.G903G|NLRX1_ENST00000409265.4_Intron			Q86UT6	NLRX1_HUMAN	NLR family member X1	903	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGACAGAGGGGACGGCGGTGT	0.602000													14	39					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772400	150772400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150772400C>A	ENST00000485713.1	+	20	4146	c.3106C>A	c.(3106-3108)Ctg>Atg	p.L1036M	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1027M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.L954M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1036M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1022M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1036	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGGACCTGCTGCTCAT	0.647000													9	42					1.58986e-06	1.84011e-06	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38893864	38893864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38893864G>T	ENST00000359357.3	+	72	10599	c.10345G>T	c.(10345-10347)Gat>Tat	p.D3449Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3413Y|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3666Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACCAGGAGATGATCTCTC	0.418000													6	129					5.18039e-06	5.91835e-06	1	1	0
SAMD8	142891	broad.mit.edu	37	10	76924436	76924436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76924436G>A	ENST00000542569.1	+	3	715	c.612G>A	c.(610-612)acG>acA	p.T204T	SAMD8_ENST00000372690.3_Silent_p.T267T|SAMD8_ENST00000372687.3_Silent_p.T204T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	204					sphingomyelin biosynthetic process	integral to membrane		p.T267T(1)|p.T204T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGCCATGACGGAAGTATGTG	0.398000													28	55					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250876	179250876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179250876G>A	ENST00000389805.4	+	3	498	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R107Q|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R23Q	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	107	Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGCCGGCGGGACCACCGC	0.622000													31	38					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38146435	38146435	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38146435C>T	ENST00000264639.4	+	6	1140	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PSMD3_ENST00000541736.1_Silent_p.V184V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	322					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACACAGCTGTCGGCTTCAAAC	0.512000													7	16					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904943	37904943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37904943C>A	ENST00000316950.6	-	6	1174	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R206I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R47I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCAGATGTCT	0.368000													29	46					3.99451e-17	5.17392e-17	1	1	0
MST1R	4486	broad.mit.edu	37	3	49940860	49940860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49940860G>A	ENST00000296474.3	-	1	210	c.183C>T	c.(181-183)taC>taT	p.Y61Y	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.Y61Y	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	61	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCGCCCTCGTAGGTCACCA	0.627000													11	70					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622669	156622669	+	Missense_Mutation	SNP	G	G	A	rs148943492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156622669G>A	ENST00000329117.4	+	8	2263	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	BCAN_ENST00000361588.5_Missense_Mutation_p.V643M|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	643					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGCCGTGGTCCCCGC	0.602000													5	74					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469544	120469544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120469544C>T	ENST00000283875.5	+	2	238	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	49	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGAGGATATGCTGGAGCTGCT	0.453000													41	56					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65733943	65733943	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65733943C>A	ENST00000312397.5	+	9	1196	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	368					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGAGGAGATCCGGGCCAAGC	0.672000													11	16					2.80697e-09	3.39963e-09	1	1	0
COG7	91949	broad.mit.edu	37	16	23404666	23404666	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23404666G>A	ENST00000307149.5	-	15	2075	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	630					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGTACTGCCCGATCTGAAACA	0.468000													15	23					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853034	53853034	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53853034G>A	ENST00000331251.3	+	1	2044	c.567G>A	c.(565-567)gtG>gtA	p.V189V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	189					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAGTGCGTGCTAGTCTTTC	0.687000													3	3					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653399C>T	ENST00000284885.3	-	22	2659	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343000													64	110					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427600	97427600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97427600G>T	ENST00000377075.2	+	1	962	c.864G>T	c.(862-864)caG>caT	p.Q288H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	288	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTACCTCAGGCCCTGTGCT	0.557000													8	82					5.4927e-09	6.6252e-09	1	1	0
WISP3	8838	broad.mit.edu	37	6	112390780	112390780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112390780G>A	ENST00000361714.1	+	5	1121	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	WISP3_ENST00000604763.1_Missense_Mutation_p.C341Y|WISP3_ENST00000368666.2_Missense_Mutation_p.C341Y|WISP3_ENST00000368663.3_Missense_Mutation_p.C318Y|WISP3_ENST00000409166.1_Missense_Mutation_p.C117Y|WISP3_ENST00000230529.5_Missense_Mutation_p.C341Y			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	341					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGAGAAACTGCAGAGAACCT	0.343000													8	92					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116269612	116269612	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116269612C>A	ENST00000261448.5	-	6	977		c.e6+1		CASQ2_ENST00000456138.2_Splice_Site	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)						heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCAGGCACCTTTGGTGTT	0.532000													10	13					0.00010058	0.000111121	1	1	0
FTSJ3	117246	broad.mit.edu	37	17	61902614	61902614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61902614C>T	ENST00000427159.2	-	7	1228	c.583G>A	c.(583-585)Gta>Ata	p.V195I		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	195					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGCAGACTACAAAGATCTCT	0.498000													21	31					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48372938	48372938	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48372938A>C	ENST00000367574.4	+	8	1130	c.625A>C	c.(625-627)Aat>Cat	p.N209H	PORCN_ENST00000359882.4_Missense_Mutation_p.N285H|PORCN_ENST00000355092.3_Missense_Mutation_p.N285H|PORCN_ENST00000537758.1_Missense_Mutation_p.N291H|PORCN_ENST00000361988.3_Missense_Mutation_p.N280H|PORCN_ENST00000355961.4_Missense_Mutation_p.N286H|PORCN_ENST00000326194.6_Missense_Mutation_p.N291H			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	291					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCCACTGAATGTGGAGCT	0.517000													7	57					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007423	93007423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007423C>T	ENST00000268164.3	+	6	1173	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ST8SIA2_ENST00000539113.1_Silent_p.L291L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	312					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAATCTACCTCTACGGCTTCT	0.522000													8	13					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503570	124503570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124503570G>A	ENST00000357628.3	-	8	978	c.380C>T	c.(379-381)aCt>aTt	p.T127I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	127					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGTCCTCAGTAGTGAAGTT	0.448000													38	127					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80647271	80647271	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647271C>T	ENST00000458043.2	+	13	1290	c.1284C>T	c.(1282-1284)tgC>tgT	p.C428C	OTOGL_ENST00000547103.1_Silent_p.C428C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGGGACTTGCATCTCCTTGG	0.333000													15	37					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96858172	96858172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96858172C>A	ENST00000337288.5	-	6	1161	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	260	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGACGAATTCTGGAGACTCT	0.428000													9	133					1.08611e-07	1.2824e-07	1	1	0
NR1I2	8856	broad.mit.edu	37	3	119530454	119530454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119530454G>T	ENST00000393716.2	+	4	2239	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	NR1I2_ENST00000337940.4_Missense_Mutation_p.G173W|NR1I2_ENST00000466380.1_Missense_Mutation_p.G134W	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	134	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGAACGGACAGGGACTCAGCC	0.582000													3	16					0.004672	0.0049138	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228487104	228487104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487104G>A	ENST00000570156.2	+	50	13429	c.13355G>A	c.(13354-13356)aGc>aAc	p.S4452N	OBSCN_ENST00000366707.4_Missense_Mutation_p.S1142N|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3495	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAAATACAGCCTGAGACAA	0.572000													48	36					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222321357	222321357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222321357G>T	ENST00000281821.2	-	7	1620	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	EPHA4_ENST00000392071.4_Missense_Mutation_p.P476T|EPHA4_ENST00000409854.1_Missense_Mutation_p.P527T|EPHA4_ENST00000409938.1_Missense_Mutation_p.P527T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	527	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCTCCAAGGGCTCACTGAAG	0.483000													16	35					2.35188e-11	2.93101e-11	1	1	0
TTC3	7267	broad.mit.edu	37	21	38569870	38569870	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38569870G>T	ENST00000399017.2	+	43	8326		c.e43-1		TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCCCTTTCAGCACTGAGCTT	0.378000													20	44					4.63292e-17	5.99748e-17	1	1	0
STAB1	23166	broad.mit.edu	37	3	52556370	52556370	+	Missense_Mutation	SNP	G	G	A	rs141937769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556370G>A	ENST00000321725.6	+	60	6566	c.6490G>A	c.(6490-6492)Gca>Aca	p.A2164T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2164	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGCCACGCAGGCTACGT	0.647000													13	33					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31318475	31318475	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31318475C>A	ENST00000542188.1	-	26	3861		c.e26-1		RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGAAGAGCTCTGTGTGAAGG	0.512000													9	16					0.307466	0.308846	1	1	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970949	45970949	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45970949A>G	ENST00000391621.1	-	1	439	c.393T>C	c.(391-393)tgT>tgC	p.C131C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	131	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGAAGAGGCACAGCAAGCTG	0.627000													12	84					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCCAACTGCCGCTATGAAA	0.428000													36	52					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710068	37710068	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710068T>C	ENST00000400485.1	+	4	360	c.284T>C	c.(283-285)gTc>gCc	p.V95A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	95					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGGTCATGTCCCAGTTGGA	0.353000													32	41					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153548	49153548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49153548C>T	ENST00000453664.1	-	10	1691	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	USP19_ENST00000398896.1_Missense_Mutation_p.R173H|USP19_ENST00000398892.3_Missense_Mutation_p.R405H|USP19_ENST00000417901.1_Missense_Mutation_p.R468H|USP19_ENST00000398888.2_Missense_Mutation_p.R367H|USP19_ENST00000434032.2_Missense_Mutation_p.R468H|USP19_ENST00000398898.2_Missense_Mutation_p.R405H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	367					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCGATGCGAGAAGCCGT	0.572000													18	18					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124525895	124525895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124525895C>T	ENST00000408936.3	+	7	1464	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L	DAB2IP_ENST00000259371.2_Silent_p.L400L|DAB2IP_ENST00000309989.1_Silent_p.L304L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	428	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCTCAAGCTAGTGGGCCA	0.637000													5	13					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70531163	70531163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70531163C>T	ENST00000265872.6	+	18	2618	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	CCAR1_ENST00000535016.1_Silent_p.G818G|CCAR1_ENST00000543719.1_Silent_p.G818G	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	833	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gaaaatcaggcgatgataaag	0.318000													8	11					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948636	198948636	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198948636A>G	ENST00000428675.1	+	2	793	c.395A>G	c.(394-396)aAc>aGc	p.N132S	PLCL1_ENST00000437704.2_Missense_Mutation_p.N34S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	132	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGCATTTACAACCGTTTTTTC	0.443000													8	25					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38090600	38090600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38090600G>T	ENST00000592533.1	+	3	415	c.83G>T	c.(82-84)aGg>aTg	p.R28M	ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000343599.5_Missense_Mutation_p.R28M|ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000589117.1_Missense_Mutation_p.R28M|ZNF540_ENST00000316433.4_Missense_Mutation_p.R28M	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTACCCAGAGGAAATTGTAC	0.413000													11	86					3.07112e-06	3.52574e-06	1	1	0
MDN1	23195	broad.mit.edu	37	6	90468059	90468059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90468059G>A	ENST00000369393.3	-	19	2732	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MDN1_ENST00000428876.1_Missense_Mutation_p.R873W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	873					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGATGCCGAACCAGTGGC	0.453000													6	8					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270451	162270451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162270451C>T	ENST00000361897.5	+	4	701	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T95M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	100	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGGAATGGACGTGGGATGAG	0.498000													37	55					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153993731	153993731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153993731G>A	ENST00000369550.5	+	3	307	c.97G>A	c.(97-99)Gct>Act	p.A33T		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	33					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACAACACGCTGAAGAATT	0.388000									Congenital Dyskeratosis				85	150					0	0	1	0	0
ZNF271	0	broad.mit.edu	37	18	32886939	32886939	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32886939A>G	ENST00000399070.3	+	0	1333					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GTGCAATAAAATGTTTAGTCG	0.373000													3	48					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102915988	102915988	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102915988G>A	ENST00000312132.4	-	0	791																											AAACCTAACCGTTTCAATGCA	0.398000													28	21					0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88258453	88258453	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88258453A>G	ENST00000358290.4	-	7	1193	c.878T>C	c.(877-879)aTt>aCt	p.I293T	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.I249T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	293					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTATATCCAATAACTGCATC	0.313000													16	31					0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333375	33333375	+	Missense_Mutation	SNP	C	C	T	rs138930492	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33333375C>T	ENST00000373471.3	-	4	544	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	144	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAGGACCACGACGATGATC	0.552000													6	18					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218520	100218520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100218520G>A	ENST00000462107.1	-	19	2653	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	TFR2_ENST00000223051.3_Missense_Mutation_p.A789V|TFR2_ENST00000544242.1_Missense_Mutation_p.A330V|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	789					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCGCTAAGCGCATTGGCTGC	0.632000													17	35					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084707	53084707	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084707A>G	ENST00000276480.7	-	10	1397	c.714T>C	c.(712-714)acT>acC	p.T238T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCACCTTCAGTTTTTATTT	0.428000													29	48					0	0	1	0	0
LINC00478	0	broad.mit.edu	37	21	17566875	17566875	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17566875A>G	ENST00000458468.1	+	0	409					NR_027790.1																						TGGGTGTTGGACAACCATAGG	0.468000													9	40					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075744	84075744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84075744C>A	ENST00000299709.3	-	1	18	c.19G>T	c.(19-21)Gga>Tga	p.G7*		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	7					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTGCTTCCTGGGGTCTGT	0.587000													9	77					4.68919e-08	5.58064e-08	1	1	0
PLEKHM3	389072	broad.mit.edu	37	2	208866154	208866154	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866154G>C	ENST00000457206.1	-	2	637	c.210C>G	c.(208-210)ggC>ggG	p.G70G	PLEKHM3_ENST00000389247.4_Silent_p.G70G|PLEKHM3_ENST00000427836.2_Silent_p.G70G			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	70					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAAATCATGCCCCCCTTGC	0.502000													18	43					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5348995	5348995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5348995C>T	ENST00000399537.4	-	28	8741	c.8393G>A	c.(8392-8394)cGt>cAt	p.R2798H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2798H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2798							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCATGCCACGCCGCTGCAA	0.682000													5	11					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463488	121463488	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121463488C>T	ENST00000305949.1	+	4	396	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	117					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACGAATATCGAAGAATGTT	0.313000													7	53					0	0	1	0	0
IGLV8-61	0	broad.mit.edu	37	22	22453493	22453493	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453493G>A	ENST00000390283.2	+	0	285																											ACAAACACTCGCTCTTCTGGG	0.567000													47	63					0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29915574	29915574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29915574C>T	ENST00000409290.1	+	2	219	c.219C>T	c.(217-219)atC>atT	p.I73I	WIPF3_ENST00000409123.1_Silent_p.I73I|WIPF3_ENST00000242140.5_Silent_p.I73I	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	73										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCCGCAGATCGAGAGTAAGT	0.627000													21	14					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685396	125685396	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685396C>A	ENST00000371126.1	-	1	1438	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	399										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCTTCCTCCTTGCAGGTCC	0.577000													32	63					1.60099e-16	2.06663e-16	1	1	0
PPP1R7	5510	broad.mit.edu	37	2	242122067	242122067	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242122067C>T	ENST00000234038.6	+	10	1386	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PPP1R7_ENST00000407025.1_Silent_p.N304N|PPP1R7_ENST00000272983.8_Silent_p.N261N	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	304						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCAGATGAACGACAATCTCC	0.597000													14	40					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795676	109795676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795676A>G	ENST00000271332.3	+	1	3036	c.2975A>G	c.(2974-2976)tAc>tGc	p.Y992C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	992	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCCTGAGTACGTCCTGGTC	0.602000													22	59					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633678	79633678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633678C>T	ENST00000393350.1	-	1	933	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MAF_ENST00000569649.1_Missense_Mutation_p.R41H|MAF_ENST00000326043.4_Missense_Mutation_p.R41H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCTGATGATGCGGTCGGTCTC	0.607000			T	IGH@	MM								4	30					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379302	138379302	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379302C>T	ENST00000356818.2	+	4	3495	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	PPP1R26_ENST00000604351.1_Silent_p.S982S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S982S|PPP1R26_ENST00000605660.1_Silent_p.S982S|PPP1R26_ENST00000401470.3_Silent_p.S982S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	982						nucleolus	protein binding										AGCTGCCCAGCTGTGCCACAG	0.637000													14	12					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40811931	40811931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40811931G>T	ENST00000251412.7	+	2	328	c.129G>T	c.(127-129)gaG>gaT	p.E43D		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	43					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCGCCACCGAGGGCACTGACC	0.662000													7	46					0.000157383	0.00017284	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47894786	47894786	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47894786G>A	ENST00000289672.2	-	29	4718	c.4668C>T	c.(4666-4668)ccC>ccT	p.P1556P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1556	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGACCATCACGGGTTTCCTTA	0.488000													37	37					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095650	13095650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13095650G>T	ENST00000506447.1	+	35	6483	c.6403G>T	c.(6403-6405)Gag>Tag	p.E2135*	CEP192_ENST00000325971.8_Nonsense_Mutation_p.E1539*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E1660*|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1730										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCCTACCCGAGCACTTGAT	0.587000													24	55					1.1804e-14	1.50872e-14	1	1	0
CDC45	8318	broad.mit.edu	37	22	19496191	19496191	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19496191C>A	ENST00000407835.1	+	14	1450	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	CDC45_ENST00000404724.3_Silent_p.I352I|CDC45_ENST00000437685.2_Silent_p.I430I|CDC45_ENST00000263201.1_Silent_p.I398I			O75419	CDC45_HUMAN	cell division cycle 45	398					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATCACTTCATCCAGGCTCTGG	0.582000													4	21					0.000602214	0.000649039	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20034272	20034272	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20034272C>T	ENST00000379651.3	-	10	1479	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	MAP7D2_ENST00000379643.5_Silent_p.E528E|MAP7D2_ENST00000543767.1_Silent_p.E372E|MAP7D2_ENST00000443379.3_Silent_p.E442E|MAP7D2_ENST00000452324.3_Silent_p.E435E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	487										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcaacaacagctcctcctcag	0.438000													4	14					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885988	70885988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70885988C>T	ENST00000333538.5	+	5	1493	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	287						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGGTGCAGCGGTACGAGAA	0.577000													10	192					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100543915	100543915	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100543915A>G	ENST00000457717.1	+	19	2851	c.2595A>G	c.(2593-2595)ggA>ggG	p.G865G	MTTP_ENST00000511045.1_Silent_p.G892G|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G865G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	865					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATTAGCAGGATGTGAATTCC	0.458000													11	103					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107965640	107965640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965640G>A	ENST00000393094.2	+	15	2285	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	557					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTGATACCGGAAGTAGAAGA	0.348000													37	43					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24888627G>A	ENST00000347898.3	+	7	1148	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483000													151	183					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557040	40557040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40557040G>A	ENST00000357037.5	-	2	1257	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	280					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGCACCAGGCGCGTGCCCAGC	0.637000													16	29					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20150322	20150322	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20150322T>C	ENST00000379607.5	-	5	518	c.315A>G	c.(313-315)gcA>gcG	p.A105A	EIF1AX_ENST00000379593.1_Silent_p.A77A	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	105						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GCTCGCCGTATGCCTTCAGAC	0.353000													27	46					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821091	43821091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43821091G>A	ENST00000417669.1	+	2	544	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	MPPED1_ENST00000538182.1_Missense_Mutation_p.A67T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A34T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A34T|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	34							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACGTGATGGCCGCTCGGCG	0.662000													10	12					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21137325	21137325	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21137325C>T	ENST00000602326.1	-	34	5083	c.4500G>A	c.(4498-4500)ccG>ccA	p.P1500P	EIF4G3_ENST00000374937.3_Silent_p.P1500P|EIF4G3_ENST00000400422.1_Silent_p.P1494P|EIF4G3_ENST00000264211.8_Silent_p.P1494P|EIF4G3_ENST00000537738.1_Silent_p.P984P|EIF4G3_ENST00000374935.3_Silent_p.P1214P|EIF4G3_ENST00000536266.1_Silent_p.P1098P	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1494	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGTAAGATCGGCACTCTCT	0.413000													36	72					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33219411	33219411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33219411G>A	ENST00000445902.2	-	19	2127	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R512W|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	637					protein transport	endosome membrane|Golgi apparatus		p.R637W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGTTACCCGGGCTAATAGC	0.478000													18	37					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298441	12298441	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12298441A>G	ENST00000343979.4	+	4	1388	c.1248A>G	c.(1246-1248)ggA>ggG	p.G416G	ZNF136_ENST00000398616.2_Silent_p.G350G	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	416					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCACACTGGAGAGAAACCTT	0.363000													18	24					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109748331	109748331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109748331G>A	ENST00000399132.1	-	33	2254	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	COL25A1_ENST00000399127.1_Missense_Mutation_p.A587V|COL25A1_ENST00000399126.1_Missense_Mutation_p.A575V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	575	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCTCCCATAGCTCCTTTTTC	0.483000													13	26					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050923	134050923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134050923C>A	ENST00000338087.5	-	9	1496	c.677G>T	c.(676-678)aGc>aTc	p.S226I	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S266I|SLA_ENST00000395352.3_Missense_Mutation_p.S243I|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.S199I|SLA_ENST00000524345.1_Missense_Mutation_p.S118I	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	226	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AAGGCCATAGCTGAAAAGGGA	0.512000													6	40					3.59834e-05	4.01776e-05	1	1	0
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28877367G>A	ENST00000282397.4	-	30	4205	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_ENST00000540678.1_Silent_p.I536I|FLT1_ENST00000543394.1_Silent_p.I341I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567000													22	46					0	0	1	0	0
LRRC37BP1	0	broad.mit.edu	37	17	28958870	28958870	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28958870G>T	ENST00000412831.1	+	0	98				SMURF2P1_ENST00000578265.1_RNA																							TTGAGTCGGAGGCGCCCTCAG	0.507000													7	165					6.5536e-12	8.20813e-12	1	1	0
TANC2	26115	broad.mit.edu	37	17	61499143	61499143	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61499143C>A	ENST00000424789.2	+	25	5804	c.5800C>A	c.(5800-5802)Ctc>Atc	p.L1934I	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L1944I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCGTGGAGACCTCTTGGAGCG	0.542000													6	49					0.0215528	0.0221649	1	1	0
SLC25A29	123096	broad.mit.edu	37	14	100759259	100759259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100759259C>T	ENST00000392908.3	-	3	437	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	SLC25A29_ENST00000554912.1_Silent_p.S25S|SLC25A29_ENST00000539621.1_Silent_p.S25S|SLC25A29_ENST00000359232.3_Silent_p.S91S|SLC25A29_ENST00000556505.1_Silent_p.S25S|SLC25A29_ENST00000555927.1_Silent_p.S25S|RP11-638I2.6_ENST00000556458.1_lincRNA			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	291						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GGTTGAGGGGCGAGTCGTGGC	0.692000													4	4					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461707	106461707	+	Missense_Mutation	SNP	G	G	T	rs56311486	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106461707G>T	ENST00000261402.2	-	7	2238	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	287	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCACCATCAGCATCCACCGT	0.547000													16	26					2.23348e-06	2.57349e-06	1	1	0
GON4L	54856	broad.mit.edu	37	1	155774865	155774865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155774865C>T	ENST00000437809.1	-	11	1642	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D	GON4L_ENST00000361040.5_Missense_Mutation_p.G507D|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.G507D|GON4L_ENST00000368331.1_Missense_Mutation_p.G507D			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	507					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTAATTGGCCCAGGGGAAC	0.502000													29	89					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47058611	47058611	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47058611T>G	ENST00000409792.3	-	21	7709	c.7667A>C	c.(7666-7668)aAa>aCa	p.K2556T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2556	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTTTGGGTTTGTAAACAGC	0.473000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	76					0	0	1	0	0
SYF2	25949	broad.mit.edu	37	1	25549895	25549895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25549895C>T	ENST00000236273.4	-	7	619	c.594G>A	c.(592-594)cgG>cgA	p.R198R	SYF2_ENST00000354361.3_Silent_p.R156R	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	198						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAGGACGTCTCCGGCTATATT	0.343000													54	81					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256482	24256482	+	Silent	SNP	G	G	A	rs7018313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256482G>A	ENST00000538205.1	+	10	1168	c.621G>A	c.(619-621)acG>acA	p.T207T	ADAMDEC1_ENST00000522298.1_Silent_p.T207T|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T286T|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	286					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAGCACCACGTTTGACAACT	0.488000													33	36					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695035	42695035	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42695035A>G	ENST00000230882.4	+	5	473	c.283A>G	c.(283-285)Act>Gct	p.T95A	GHR_ENST00000357703.3_Missense_Mutation_p.T73A|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	95					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	tcaagaatggactcaagaatg	0.353000													9	17					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141832500	141832500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832500G>A	ENST00000306799.3	-	6	1523	c.870C>T	c.(868-870)gcC>gcT	p.A290A	RNF150_ENST00000379512.2_Silent_p.A191A|RNF150_ENST00000507500.1_Silent_p.A332A|RNF150_ENST00000420921.2_Silent_p.A191A|RNF150_ENST00000515673.1_Silent_p.A332A	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	332						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CCATGCAGTCGGCATTGGGCT	0.478000													10	18					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40745935	40745935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745935C>T	ENST00000216194.7	+	2	309	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ADSL_ENST00000342312.6_Nonsense_Mutation_p.R85*|ADSL_ENST00000454266.2_Nonsense_Mutation_p.R85*	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	85					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAACGTTTACGACATGATGT	0.458000													26	36					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296864	15296864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15296864G>A	ENST00000378116.4	-	4	439	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	145						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAACGCGAGGCTGTGGCCGG	0.552000													9	10					0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42910712	42910712	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42910712C>T	ENST00000323013.6	-	5	549	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	178							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCATATGCCTCCATGAACG	0.652000													6	17					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660619	90660619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90660619C>T	ENST00000257749.4	-	7	1913	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.V402V|BACH2_ENST00000537989.1_Silent_p.V402V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	402						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGAAGTTGGACACCTCCTTCT	0.582000													16	24					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3322124	3322124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3322124C>T	ENST00000378398.3	+	9	1183	c.1101C>T	c.(1099-1101)caC>caT	p.H367H	PRDM16_ENST00000511072.1_Silent_p.H367H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.H367H|PRDM16_ENST00000442529.2_Silent_p.H366H|PRDM16_ENST00000441472.2_Silent_p.H366H|PRDM16_ENST00000378391.2_Silent_p.H366H|PRDM16_ENST00000270722.5_Silent_p.H366H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	366					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCGGGCCCACGCCTGCCCCG	0.662000			T	EVI1	"""MDS, AML"""								12	18					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556539	1556539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1556539C>T	ENST00000402693.4	-	2	978	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	MEX3D_ENST00000388824.6_Missense_Mutation_p.V327M	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	327	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGTCCACGTTCTCGGGC	0.697000													4	14					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45745112	45745112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45745112G>A	ENST00000403390.1	+	20	2095	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	PFKL_ENST00000349048.4_Missense_Mutation_p.D652N			P17858	K6PL_HUMAN	phosphofructokinase, liver	652					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGCGTCTTCGACTGCAGGAC	0.622000													17	12					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218745683	218745683	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218745683T>C	ENST00000171887.4	-	16	1444	c.992A>G	c.(991-993)gAc>gGc	p.D331G	TNS1_ENST00000419504.1_Missense_Mutation_p.D331G|TNS1_ENST00000430930.1_Missense_Mutation_p.D331G|TNS1_ENST00000310858.6_Missense_Mutation_p.D362G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	331						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATGAGGGGGTCGGAGGTGTT	0.607000													12	34					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10099412	10099412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10099412G>A	ENST00000382452.2	-	5	763	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WDR1_ENST00000499869.2_Missense_Mutation_p.R161W|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	161					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTGGCCAGCCGGTATGGCCGG	0.517000													3	42					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046007	242046007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242046007C>T	ENST00000405260.1	-	18	4644	c.3946G>A	c.(3946-3948)Ggg>Agg	p.G1316R	PASK_ENST00000539818.1_Missense_Mutation_p.G1100R|PASK_ENST00000544142.1_Missense_Mutation_p.G1130R|PASK_ENST00000358649.4_Missense_Mutation_p.G1323R|PASK_ENST00000234040.4_Missense_Mutation_p.G1316R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1316					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGGATCCCCGGGATGCAAA	0.552000													52	98					0	0	1	0	0
RPL36	25873	broad.mit.edu	37	19	5691360	5691360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5691360G>A	ENST00000577222.1	+	5	668	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RPL36_ENST00000394580.2_Missense_Mutation_p.D42N|RPL36_ENST00000579649.1_Missense_Mutation_p.D42N|RPL36_ENST00000579446.1_Missense_Mutation_p.D42N|RPL36_ENST00000347512.3_Missense_Mutation_p.D42N			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GTTCGTGCGGGACATGATTCG	0.577000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	53					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487536	56487536	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56487536G>T	ENST00000291971.3	+	8	2814	c.2743G>T	c.(2743-2745)Gat>Tat	p.D915Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D896Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	915						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCTGTCAGGATATGATCTC	0.398000													38	55					3.09479e-21	4.07014e-21	1	1	0
GTPBP10	85865	broad.mit.edu	37	7	90012310	90012310	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90012310C>T	ENST00000222511.6	+	9	884	c.818C>T	c.(817-819)gCa>gTa	p.A273V	GTPBP10_ENST00000257659.8_Missense_Mutation_p.A194V	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	273					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAAAACCTGCACTCTTGGCA	0.353000													13	131					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6458289	6458289	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6458289G>A	ENST00000265983.3	-	7	922	c.822C>T	c.(820-822)acC>acT	p.T274T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	274	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGAAGGCATAGGTGGCACCAT	0.517000													24	57					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575999	44575999	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44575999C>A	ENST00000289547.4	-	4	1765	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NPC1L1_ENST00000381160.3_Silent_p.L570L|NPC1L1_ENST00000423141.1_Silent_p.L570L|NPC1L1_ENST00000546276.1_Silent_p.L570L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	570					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTCATGATCAGGGCCTCTG	0.587000													4	72					0.014758	0.0152625	1	1	0
AHI1	54806	broad.mit.edu	37	6	135787489	135787489	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135787489A>T	ENST00000367800.4	-	5	428	c.212T>A	c.(211-213)cTt>cAt	p.L71H	AHI1_ENST00000457866.2_Missense_Mutation_p.L71H|AHI1_ENST00000327035.6_Missense_Mutation_p.L71H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71						adherens junction|cilium|microtubule basal body		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328000													8	200					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39766687	39766687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766687C>A	ENST00000301653.4	-	6	1240	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	392	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCTGCTCCATCTCACAGCGTA	0.617000													6	87					0.0215528	0.0221649	1	1	0
GOLGA1	2800	broad.mit.edu	37	9	127674201	127674201	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127674201G>A	ENST00000373555.4	-	11	1281	c.948C>T	c.(946-948)caC>caT	p.H316H		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	316						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTCTTGCAAGTGTTCTTCTC	0.438000													8	80					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329592	75329592	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329592T>C	ENST00000556489.2	-	1	945	c.946A>G	c.(946-948)Atc>Gtc	p.I316V	PROX2_ENST00000445876.1_Missense_Mutation_p.I316V|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	316					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTTGGAGGGATAGGGTACCTA	0.527000													4	92					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243798	124243798	+	Missense_Mutation	SNP	G	G	A	rs149988027		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124243798G>A	ENST00000276704.4	-	4	608	c.557C>T	c.(556-558)gCg>gTg	p.A186V	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A154V|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGATGACGCAAGTGCTGC	0.443000													43	76					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460869	106460869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460869C>T	ENST00000261402.2	-	7	3076	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	566							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S566I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637000													15	19					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413727	61413727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413727T>C	ENST00000395348.3	-	5	1693	c.1057A>G	c.(1057-1059)Aca>Gca	p.T353A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T353A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	353					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAACTGCTGTCATAATGCCT	0.378000													31	40					0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76447088	76447088	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76447088C>A	ENST00000508105.1	+	3	399	c.308C>A	c.(307-309)gCt>gAt	p.A103D	THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000311638.3_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Intron|THAP6_ENST00000507556.1_Intron			Q8TBB0	THAP6_HUMAN	THAP domain containing 6	0						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAATTACTTGCTGAGCTCATG	0.338000													25	57					2.79863e-10	3.44159e-10	1	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12248851	12248851	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12248851A>G	ENST00000376259.3	+	2	167		c.e2-1		TNFRSF1B_ENST00000536782.1_Splice_Site|TNFRSF1B_ENST00000492361.1_Intron	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B						apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCTTCCTTCCAGGTGGCATTT	0.617000													15	32					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7536191	7536191	+	Missense_Mutation	SNP	C	C	T	rs142032286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536191C>T	ENST00000380450.4	+	7	1005	c.974C>T	c.(973-975)gCc>gTc	p.A325V	SHBG_ENST00000575903.1_Missense_Mutation_p.A307V|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.A213V|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.A267V|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	325	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AAGATGAAGGCCCTTGCCCTG	0.602000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	22					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101518861	101518861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101518861G>A	ENST00000353234.4	-	12	2214	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P528S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P724S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P422S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	723	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCAGATGGAGGCCTTTTG	0.512000													23	29					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114535710C>T	ENST00000357389.3	-	9	1131	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	GAS6_ENST00000355761.4_Missense_Mutation_p.V230M|GAS6_ENST00000418959.3_De_novo_Start_InFrame|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.V284M|GAS6_ENST00000450766.1_Missense_Mutation_p.V11M			Q14393	GAS6_HUMAN	growth arrest-specific 6	327					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAAGGGCACGCACGGCAAG	0.687000													6	49					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638615	176638615	+	Missense_Mutation	SNP	G	G	A	rs28932180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176638615G>A	ENST00000439151.2	+	5	3260	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R803Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R969Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R803Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGGAGACCGAGAACGTGGA	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			48	67					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151785753	151785753	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151785753G>T	ENST00000367294.3	+	4	817	c.558_splice	c.e4+1	p.Q186_splice	C6orf211_ENST00000545879.1_Splice_Site_p.Q67_splice	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	186							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AACTTCTGCAGGTAAATGTGA	0.279000													4	26					0.00024832	0.0002712	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547000													8	24					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571607	101571607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101571607T>C	ENST00000326172.5	+	3	570	c.455T>C	c.(454-456)tTc>tCc	p.F152S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F152S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F52S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGAACAGTTCAGAGGTAAG	0.289000													4	71					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918032	48918032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48918032C>T	ENST00000311378.4	+	2	1911	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	WFIKKN2_ENST00000426127.1_Silent_p.S368S|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	461	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGTCGCAGCGACTTTGTCA	0.632000													5	39					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896952	36896952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36896952G>A	ENST00000301807.6	-	12	4376	c.2479C>T	c.(2479-2481)Ctg>Ttg	p.L827L	TRANK1_ENST00000429976.2_Silent_p.L1377L|TRANK1_ENST00000428977.2_Silent_p.L827L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCGACAGCCTCCGGGAT	0.502000													51	90					0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122551	24122551	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24122551T>G	ENST00000215743.3	+	3	396	c.344T>G	c.(343-345)cTt>cGt	p.L115R	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	115					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TCCAGGATCCTTCGGTTCCCA	0.627000													4	35					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754804	76754804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754804C>T	ENST00000536229.3	+	1	3123	c.2414C>T	c.(2413-2415)cCg>cTg	p.P805L	SALL3_ENST00000537592.2_Missense_Mutation_p.P938L|SALL3_ENST00000575389.2_Missense_Mutation_p.P938L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCGAGAGGCCGGACAGCCCA	0.741000													3	4					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206872026	206872026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206872026C>A	ENST00000403263.1	-	10	2304	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	634					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAATCAAAATCTTGTAAGTCA	0.353000													18	32					5.3912e-06	6.15692e-06	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105176259	105176259	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105176259T>C	ENST00000369797.3	+	13	1624	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	510	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGCTTTGTGACCCTGAAG	0.488000											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	98					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147655	33147655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147655G>A	ENST00000360668.3	+	4	1080	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.G107S|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.G111S			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	107					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGACGAGGACGGCTTCCTCTA	0.637000													24	38					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732277	6732277	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732277G>T	ENST00000405858.1	-	5	837	c.296C>A	c.(295-297)cCt>cAt	p.P99H	ZNF12_ENST00000342651.5_Missense_Mutation_p.P99H|ZNF12_ENST00000404360.1_Missense_Mutation_p.P63H|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	99					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTGCCTTGAAGGTTTATTTTC	0.363000													119	104					6.87118e-46	9.28252e-46	1	1	0
RASEF	158158	broad.mit.edu	37	9	85640766	85640766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85640766G>A	ENST00000376447.3	-	2	762	c.502C>T	c.(502-504)Cat>Tat	p.H168Y		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	168					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTATAACATGTTCATATGGC	0.358000													12	166					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34319989	34319989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34319989C>T	ENST00000361162.6	-	4	554	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R57Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R57Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	57	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCTCTACTTCGCTTCCGTTC	0.443000													47	80					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89294209	89294209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89294209A>G	ENST00000370521.3	+	19	2824	c.2465A>G	c.(2464-2466)gAa>gGa	p.E822G	PKN2_ENST00000370513.5_Missense_Mutation_p.E774G|PKN2_ENST00000544045.1_Missense_Mutation_p.E496G|PKN2_ENST00000370505.3_Missense_Mutation_p.E665G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	822	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGCACTCCTGAATTTCTTGCC	0.378000													25	61					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832239	113832239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113832239G>A	ENST00000337569.3	+	3	133	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	20						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GCCTTTACCTGCCAAGAGCCT	0.572000													14	127					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483046	114483046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114483046C>T	ENST00000369558.1	+	2	273	c.41C>T	c.(40-42)tCg>tTg	p.S14L	HIPK1_ENST00000426820.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369554.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369559.4_Missense_Mutation_p.S14L|HIPK1_ENST00000369555.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369561.4_Missense_Mutation_p.S14L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCAGTGTCGTCGAGTGCC	0.443000													105	141					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398130	179398130	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179398130G>T	ENST00000589042.1	-	358	103436	c.103212C>A	c.(103210-103212)tcC>tcA	p.S34404S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.S25339S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Silent_p.S31836S|TTN_ENST00000359218.5_Silent_p.S25464S|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.S25531S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.S32763S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32763							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGCCCGAGGGACAGTGGCT	0.468000													4	62					0.00909568	0.00947522	1	1	0
TYR	7299	broad.mit.edu	37	11	88911756	88911756	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911756G>T	ENST00000263321.5	+	1	1137	c.635G>T	c.(634-636)aGa>aTa	p.R212I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	212					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTTGGCATAGACTCTTCTTG	0.453000													47	78					2.01872e-29	2.70161e-29	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761711	96761711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761711C>T	ENST00000295266.4	+	1	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	137					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.T137M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAGAGCTGACGGGAAGAAGA	0.527000													23	47					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574889	102574889	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102574889A>T	ENST00000249377.4	+	2	810	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.M177L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	177	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTTATTTCAATGTTGCAGAT	0.428000													10	117					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054794	48054794	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48054794T>C	ENST00000311798.1	-	2	53	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SSX5_ENST00000376923.1_Start_Codon_SNP_p.M1V|SSX5_ENST00000347757.1_Start_Codon_SNP_p.M1V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTTCATGGCACCGGGA	0.532000													15	122					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897001	5897001	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5897001A>T	ENST00000378961.4	+	2	283	c.79A>T	c.(79-81)Aac>Tac	p.N27Y	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	27						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATAACAGGAACCACAATGA	0.398000													10	19					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149403	41149403	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41149403T>C	ENST00000263413.3	-	17	2827	c.2563A>G	c.(2563-2565)Aac>Gac	p.N855D	C6_ENST00000337836.5_Missense_Mutation_p.N855D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	855	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTGCTGTTGGATGAAAGT	0.413000													80	130					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379976	231379976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231379976C>A	ENST00000264052.5	+	25	2616	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	754					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACCTATATCCCTCCTAAAGGG	0.423000													16	35					2.31682e-05	2.60394e-05	1	1	0
TLR10	81793	broad.mit.edu	37	4	38776140	38776140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776140T>C	ENST00000308973.4	-	4	1677	c.1072A>G	c.(1072-1074)Aat>Gat	p.N358D	TLR10_ENST00000361424.2_Missense_Mutation_p.N358D|TLR10_ENST00000506111.1_Missense_Mutation_p.N358D|TLR10_ENST00000508334.1_Missense_Mutation_p.N358D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	358					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTAAGATATTATTGGCAAAA	0.333000													10	72					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119390	19119390	+	Missense_Mutation	SNP	C	C	T	rs144966098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119390C>T	ENST00000399635.2	+	1	1070	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	160	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTCTCCAAGCGCTGCCTGCG	0.597000													35	55					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926284	135926284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926284G>T	ENST00000372097.5	+	4	1010	c.687G>T	c.(685-687)caG>caT	p.Q229H	GTF3C5_ENST00000342018.8_Splice_Site|GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q220H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q229H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q104H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	229						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCCCAAGCAGCCACTGGAGG	0.617000													13	16					1.5739e-10	1.9432e-10	1	1	0
CALCB	797	broad.mit.edu	37	11	15098968	15098968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15098968C>T	ENST00000523376.1	+	9	1656	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	CALCB_ENST00000533448.1_Missense_Mutation_p.R121C|CALCB_ENST00000324229.6_Missense_Mutation_p.R121C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTTGGCAGGCGCCGCAGGGA	0.542000													11	18					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153138122	153138122	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153138122G>T	ENST00000370060.1	-	4	311	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	L1CAM_ENST00000361981.3_Missense_Mutation_p.S36Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S41Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S36Y|L1CAM_ENST00000361699.4_Missense_Mutation_p.S41Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S43Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	41	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCGTGGAGACTGTTCCGT	0.602000													20	43					6.33239e-15	8.10486e-15	1	1	0
HBA2	3040	broad.mit.edu	37	16	223532	223532	+	Missense_Mutation	SNP	C	C	T	rs36075744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:223532C>T	ENST00000251595.6	+	3	428	c.362C>T	c.(361-363)gCg>gTg	p.A121V	HBA2_ENST00000397806.1_Missense_Mutation_p.A89V	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	121			A -> E (in J-Meerut/J-Birmingham).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TTCACCCCTGCGGTGCACGCC	0.662000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	22					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674767	151674767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151674767G>A	ENST00000402676.2	+	4	5481	c.5241G>A	c.(5239-5241)caG>caA	p.Q1747Q	AKAP12_ENST00000359755.5_Silent_p.Q1642Q|AKAP12_ENST00000253332.1_Silent_p.Q1747Q|AKAP12_ENST00000354675.6_Silent_p.Q1649Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1747					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGAATTGCAGGAAGGAAAAG	0.453000													3	32					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982636	9982636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9982636G>T	ENST00000383811.3	+	5	1162	c.563G>T	c.(562-564)gGg>gTg	p.G188V	CRELD1_ENST00000397170.3_Missense_Mutation_p.G188V|CRELD1_ENST00000452070.1_Missense_Mutation_p.G188V|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188V	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCCGGCTACGGGGGTGAGGCC	0.632000													8	51					0.000157383	0.00017284	1	1	0
SPRED2	200734	broad.mit.edu	37	2	65540885	65540885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540885C>T	ENST00000356388.4	-	6	1196	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.C333Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	336	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGGCGGATGCAAGTTCTCAC	0.627000													23	45					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487568	76487568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487568G>T	ENST00000389840.5	-	43	6708	c.6584C>A	c.(6583-6585)cCc>cAc	p.P2195H	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2204H|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACATGGGGTCTATGTC	0.607000													8	13					0.000157383	0.00017284	1	1	0
PRPS2	5634	broad.mit.edu	37	X	12828159	12828159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828159G>A	ENST00000380668.5	+	4	552	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	PRPS2_ENST00000489404.1_Missense_Mutation_p.V142M|PRPS2_ENST00000398491.2_Missense_Mutation_p.V145M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGATATTCCTGTGGATAATTT	0.428000													13	28					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618055	37618055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618055C>T	ENST00000399151.3	+	19	3862	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1259					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAATTCATCGAGGCTGTGT	0.592000													18	25					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85681118	85681118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85681118G>A	ENST00000310298.4	+	23	2726	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q	PDE8A_ENST00000557957.1_Missense_Mutation_p.R753Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.R779Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.R825Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	825					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGGAACCTCCGACCACCTCCT	0.498000													9	11					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341010	14341010	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14341010C>T	ENST00000571589.1	+	12	2065	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	MKL2_ENST00000574045.1_Silent_p.H631H|MKL2_ENST00000318282.5_Silent_p.H631H|MKL2_ENST00000341243.5_Silent_p.H620H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	620					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGCACGGCAGCCTTG	0.602000													15	28					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16272784	16272784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16272784C>T	ENST00000375733.2	-	5	638	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZBTB17_ENST00000537142.1_Missense_Mutation_p.D52N|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D71N|ZBTB17_ENST00000375743.4_Missense_Mutation_p.D134N			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	134					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCTTGTCCCCTCCTGGA	0.622000													39	71					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70883695	70883695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70883695G>A	ENST00000370938.3	+	3	470	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	CTH_ENST00000411986.2_Intron|CTH_ENST00000346806.2_Missense_Mutation_p.C109Y|CTH_ENST00000464926.1_Intron	NM_001902.5	NP_001893.2	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	109					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAAATTATTTGTATGGATGAT	0.333000													42	46					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541189	55541189	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541189A>G	ENST00000361760.1	+	1	276	c.276A>G	c.(274-276)agA>agG	p.R92R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGAATACAGAACCATCTCTT	0.398000													21	139					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937205	91937205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91937205A>G	ENST00000554684.1	-	10	2093	c.1597T>C	c.(1597-1599)Tcg>Ccg	p.S533P	SMEK1_ENST00000337238.4_Missense_Mutation_p.S533P|SMEK1_ENST00000555462.1_Missense_Mutation_p.S307P|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307P|SMEK1_ENST00000554943.1_Missense_Mutation_p.S546P			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCATGCTTCGAGGCCATAAGA	0.333000													29	48					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132744	45132744	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45132744G>A	ENST00000296129.1	-	7	2048	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	638						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGAGATGTTGACCCAGAAGC	0.577000													24	45					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45781872	45781872	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45781872T>C	ENST00000300843.4	+	10	1302	c.1006_splice	c.e10+1	p.I335_splice	MARK4_ENST00000262891.4_Splice_Site_p.I335_splice	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	335	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGAGAATTGGTGAGGGTC	0.532000													7	81					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195300836	195300836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195300836C>T	ENST00000343267.3	-	3	491	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	44					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACCATCTTCCGAGATACTGC	0.498000													23	27					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190926970	190926970	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190926970A>C	ENST00000260950.4	-	1	485	c.353T>G	c.(352-354)aTc>aGc	p.I118S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	118					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CATGGTAATGATTGTTTCCGT	0.428000													12	77					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83526157	83526157	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83526157T>C	ENST00000549919.1	+	13	4287	c.2482T>C	c.(2482-2484)Tct>Cct	p.S828P	TMTC2_ENST00000321196.3_Missense_Mutation_p.S834P			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	834						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTTAAAGACTTCTAAGACCTG	0.498000													3	36					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146066770	146066770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146066770C>T	ENST00000528372.1	+	5	518	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZNF7_ENST00000325241.6_Missense_Mutation_p.A93V|ZNF7_ENST00000544249.1_5'UTR|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.A104V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	93					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATGAGCAGGCCTGTGAGGAC	0.453000													7	172					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323889	88323889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88323889G>A	ENST00000418177.2	-	7	1937	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GRM5_ENST00000305447.4_Nonsense_Mutation_p.R524*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.R524*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.R524*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.R524*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTCCCTTTCGGATCACCTAA	0.388000													45	72					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	509771	509771	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:509771G>A	ENST00000453061.2	+	6	1017	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	PIGG_ENST00000536264.1_Missense_Mutation_p.R182Q|PIGG_ENST00000504346.1_Missense_Mutation_p.R215Q|PIGG_ENST00000310340.5_Missense_Mutation_p.R304Q|PIGG_ENST00000503111.1_Missense_Mutation_p.R215Q|PIGG_ENST00000296306.7_Missense_Mutation_p.R215Q|PIGG_ENST00000509768.1_Missense_Mutation_p.R215Q|PIGG_ENST00000383028.4_Missense_Mutation_p.R171Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	304					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGTGATATCCGACATCCAAAG	0.433000													4	73					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228288868	228288868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228288868C>T	ENST00000272139.4	-	8	990	c.756G>A	c.(754-756)ccG>ccA	p.P252P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	252										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				ACCTGCGAGACGGGCTCCTCC	0.632000													14	43					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191929597	191929597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191929597G>A	ENST00000392320.2	-	8	1032	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	STAT4_ENST00000358470.4_Missense_Mutation_p.R240W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	240					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCTGCCGCCGCTTCCAGTCT	0.488000													12	201					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574386	136574386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136574386C>T	ENST00000446465.2	+	2	1712	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.Q362*|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	362	DUF6 2.					Golgi apparatus|integral to membrane											TATGGTCTTGCAGCTTCTCGT	0.398000													82	145					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21237800	21237800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21237800G>A	ENST00000215730.6	+	4	690	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	188					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGTACTGATGCTTACCCAAA	0.498000													53	102					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313021	18313021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313021G>T	ENST00000396253.3	-	15	2528	c.2066C>A	c.(2065-2067)tCt>tAt	p.S689Y	HPS5_ENST00000438420.2_Missense_Mutation_p.S689Y|HPS5_ENST00000349215.3_Missense_Mutation_p.S803Y|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	803						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCCCAAACAGAAGGGCTATT	0.348000									Hermansky-Pudlak syndrome				15	29					3.45872e-05	3.88335e-05	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21494286	21494286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21494286T>C	ENST00000377142.4	-	1	378	c.22A>G	c.(22-24)Acg>Gcg	p.T8A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	8					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAACCCCGTCTTTGTGTTG	0.587000													4	54					0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897069	24897069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897069G>A	ENST00000267406.6	-	3	1014	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CBLN3_ENST00000555436.1_Missense_Mutation_p.R131C	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	182	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGACGCAGGCGCAGAGACACT	0.567000													57	86					0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359095	103359095	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359095T>C	ENST00000537356.2	+	1	293	c.293T>C	c.(292-294)aTg>aCg	p.M98T	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	98							nucleic acid binding|zinc ion binding										CGGGAGGTCATGCGTTTGCTT	0.517000													26	59					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68896887	68896887	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68896887T>G	ENST00000261778.1	+	3	787	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CAGGGGGGCCTTGAGAGACAT	0.498000													3	9					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171370	214171370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171370G>T	ENST00000366958.4	+	2	2100	c.1492G>T	c.(1492-1494)Ggt>Tgt	p.G498C	PROX1_ENST00000435016.1_Missense_Mutation_p.G498C|PROX1_ENST00000261454.4_Missense_Mutation_p.G498C|PROX1_ENST00000498508.2_Missense_Mutation_p.G498C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	498					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGCCCATTAGGTGCTCCCTC	0.562000													6	112					3.59834e-05	4.01776e-05	1	1	0
SPEG	10290	broad.mit.edu	37	2	220349114	220349114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220349114C>T	ENST00000312358.7	+	30	7061	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2310	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCGAGTTCCCACGGTGCCC	0.682000													6	7					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43471560	43471560	+	Silent	SNP	G	G	A	rs148475049	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43471560G>A	ENST00000331018.7	-	3	273	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_ENST00000266254.7_Silent_p.I11I|TTLL1_ENST00000445824.1_Silent_p.I11I			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	11	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.I11I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CTGACTTCTCGATATCAGTGA	0.413000													74	120					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178408655C>A	ENST00000448150.3	+	6	1537	c.719C>A	c.(718-720)cCt>cAt	p.P240H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433000													27	53					3.70037e-05	4.13145e-05	1	1	0
MS4A5	64232	broad.mit.edu	37	11	60198381	60198381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60198381T>C	ENST00000300190.2	+	2	352	c.266T>C	c.(265-267)tTc>tCc	p.F89S	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	89						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGATATCCATTCTGGGGCTCT	0.368000													13	100					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2340118	2340118	+	Nonsense_Mutation	SNP	G	G	A	rs61750434		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2340118G>A	ENST00000288774.3	-	3	400	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PEX10_ENST00000515760.1_5'UTR|PEX10_ENST00000447513.2_Nonsense_Mutation_p.R125*|PEX10_ENST00000507596.1_Nonsense_Mutation_p.R125*	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	125					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCAAGGGTCGCCCACTGTCG	0.706000													4	13					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694663	141694663	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694663G>A	ENST00000344120.4	-	3	266	c.80C>T	c.(79-81)cCg>cTg	p.P27L	SPRY4_ENST00000434127.2_Missense_Mutation_p.P4L	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGATCGGGGGCTCCAT	0.627000									Testicular Cancer, Familial Clustering of				13	20					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003901	228003901	+	Missense_Mutation	SNP	G	G	A	rs140039939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228003901G>A	ENST00000366757.3	+	2	283	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTGCGGCGGCTCCATCCT	0.672000													22	72					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170044	113170044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113170044G>A	ENST00000401783.2	-	38	8172	c.7836C>T	c.(7834-7836)gaC>gaT	p.D2612D	SVEP1_ENST00000374469.1_Silent_p.D2589D|SVEP1_ENST00000297826.5_Silent_p.D538D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2612					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGGCCACAGTCTATTGGCA	0.463000													68	108					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419877	40419877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40419877G>A	ENST00000221347.6	-	6	3124	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1039	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCTCCACAGCCGGGCCTCG	0.622000													15	28					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989977	125989977	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125989977T>C	ENST00000319286.5	+	3	1621	c.1467T>C	c.(1465-1467)atT>atC	p.I489I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCGGAAAATTCACGTAGAAA	0.463000										HNSCC(60;0.17)			9	128					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95522041	95522041	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95522041C>A	ENST00000297591.5	-	15	3829	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1252C|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1252					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCATCACCTTTAATAGTT	0.403000													4	44					0.00909568	0.00947522	1	1	0
STIP1	10963	broad.mit.edu	37	11	63960582	63960582	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63960582C>T	ENST00000358794.5	+	2	736	c.183C>T	c.(181-183)gcC>gcT	p.A61A	STIP1_ENST00000538945.1_Silent_p.A14A|STIP1_ENST00000543847.1_Silent_p.A14A|STIP1_ENST00000305218.4_Silent_p.A14A|STIP1_ENST00000540501.1_3'UTR			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	14					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCAACAAGGCCCTGAGCGTGG	0.498000													17	29					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77600102	77600102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600102G>A	ENST00000461745.1	+	8	2093	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G398E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G414E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	398	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGTGGCAGGAAGCATTTTA	0.413000													21	37					0	0	1	0	0
APOC4-APOC2	0	broad.mit.edu	37	19	45445551	45445551	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45445551A>T	ENST00000419266.2	+	1	57	c.17A>T	c.(16-18)aAc>aTc	p.N6I	APOC4_ENST00000591600.1_Missense_Mutation_p.N6I|APOC4_ENST00000592954.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.N6I																							CTCCTCAGAAACAGGCTCCAG	0.672000													7	5					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228077	47228077	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228077G>T	ENST00000391910.3	-	12	2052	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.P408P|STRN4_ENST00000263280.6_Silent_p.P527P			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	527						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCCATCATAGGGATCCATGC	0.597000													12	15					0.010729	0.0111717	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133324479	133324479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133324479G>A	ENST00000539605.1	-	4	7667	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A390V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A390V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	390						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGCAGCATGGCCTCGTCGTC	0.542000													22	35					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238990708	238990708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238990708G>A	ENST00000254663.6	+	6	801	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SCLY_ENST00000373332.3_Missense_Mutation_p.R130H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_Missense_Mutation_p.R212H|SCLY_ENST00000409736.2_Missense_Mutation_p.R212H|SCLY_ENST00000422984.2_Missense_Mutation_p.R118H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	212					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATCAGTCAGCGCATTAAAGCC	0.547000													48	90					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56394563	56394563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56394563C>A	ENST00000370754.5	-	66	17184	c.17185G>T	c.(17185-17187)Gat>Tat	p.D5729Y	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D5551Y|DST_ENST00000421834.2_Missense_Mutation_p.D3463Y|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Missense_Mutation_p.D3137Y|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D5225Y|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5549					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGATGTCATCTTCTAAGGCC	0.328000													10	10					2.17888e-05	2.45068e-05	1	1	0
GBP5	115362	broad.mit.edu	37	1	89729442	89729442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89729442G>A	ENST00000343435.5	-	9	1875	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	GBP5_ENST00000370459.3_Missense_Mutation_p.R447W|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	447						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CGAGGCTCCCGATAGTACTTT	0.438000													38	128					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109767545	109767545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109767545G>A	ENST00000368952.4	-	19	2722	c.2432C>T	c.(2431-2433)gCc>gTc	p.A811V	MICAL1_ENST00000358807.3_Missense_Mutation_p.A792V|MICAL1_ENST00000358577.3_Missense_Mutation_p.A706V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	792					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AACAGGACCGGCCCCCTCCTG	0.647000													37	64					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684177	113684177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113684177C>T	ENST00000295878.3	-	17	2782	c.2636G>A	c.(2635-2637)tGg>tAg	p.W879*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAACTTCTTCCATGTCCGAAG	0.373000													10	106					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100503523	100503523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100503523G>A	ENST00000395209.3	+	14	2002	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	DRP2_ENST00000541709.1_Missense_Mutation_p.R414Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R492Q|DRP2_ENST00000538510.1_Missense_Mutation_p.R492Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	492					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAAGATGCGGGCATTGTCT	0.433000													33	332					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145016656	145016656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145016656A>G	ENST00000357649.2	-	1	36	c.28T>C	c.(28-30)Tcg>Ccg	p.S10P	PLEC_ENST00000354589.3_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000398774.2_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCTCGGCGAGGCAAAGGCG	0.751000													5	4					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910280	21910280	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21910280T>C	ENST00000358296.6	-	5	1032	c.834A>G	c.(832-834)acA>acG	p.T278T	ZNF100_ENST00000305570.6_Silent_p.T214T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCTTATGTGTAGTAAGGT	0.388000													14	30					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123813655C>T	ENST00000321252.2	-	1	925	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502000													46	107					0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132584875	132584875	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132584875G>A	ENST00000351698.4	-	2	477	c.429C>T	c.(427-429)aaC>aaT	p.N143N	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	143					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACAAGGTGATGTTTGAAGCAT	0.468000													7	47					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302451	102302451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102302451C>T	ENST00000370103.4	-	2	413	c.200G>A	c.(199-201)cGc>cAc	p.R67H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R87H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	87						extracellular region		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458000													29	75					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108126892	108126892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108126892C>T	ENST00000374720.3	+	10	1391	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q174*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	382						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGGCCTCTGCAGTACATGTG	0.443000													6	150					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154184972	154184972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154184972G>T	ENST00000368521.5	-	5	667	c.469C>A	c.(469-471)Ctt>Att	p.L157I	C1orf43_ENST00000368519.1_Missense_Mutation_p.L139I|C1orf43_ENST00000362076.4_Missense_Mutation_p.L105I|C1orf43_ENST00000368516.1_Missense_Mutation_p.L123I|C1orf43_ENST00000368518.1_Missense_Mutation_p.L157I|C1orf43_ENST00000350592.3_Missense_Mutation_p.L123I	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	157						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATCCAAAAGGGTATCAATG	0.498000													7	65					1.26484e-09	1.54084e-09	1	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48141499	48141499	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48141499A>T	ENST00000405493.2	-	14	1552	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L490H|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L448H	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	448					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTACCTGGAGGAAGCTGGT	0.597000													4	38					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46738396	46738396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46738396C>T	ENST00000371975.4	+	12	1971	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P433S|RAD54L_ENST00000488942.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	433					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACAAGCCAAACCGGCAGAAGA	0.493000								Direct reversal of damage;Homologous recombination					37	42					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9789022	9789022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9789022G>A	ENST00000383829.2	+	14	4056	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N	BRPF1_ENST00000433861.2_Missense_Mutation_p.D1117N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1211N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D1212N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D1212N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1212					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGAGACCAGCGATAGTGATTG	0.582000													29	47					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204245034	204245034	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204245034T>A	ENST00000295851.4	+	3	685	c.389T>A	c.(388-390)cTt>cAt	p.L130H	ABI2_ENST00000422511.2_Missense_Mutation_p.L130H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.L130H|ABI2_ENST00000261016.6_Missense_Mutation_p.L85H|ABI2_ENST00000430418.1_Missense_Mutation_p.L130H|ABI2_ENST00000424558.1_Missense_Mutation_p.L130H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	130					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAGCCAACCTTGAACGACCA	0.318000													6	102					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80724478	80724478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80724478T>C	ENST00000320672.4	-	16	1192	c.982A>G	c.(982-984)Agt>Ggt	p.S328G	SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	328					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGTTGATTACTCAGGCTCATA	0.363000													3	62					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897304	36897304	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36897304C>A	ENST00000301807.6	-	12	4024	c.2127G>T	c.(2125-2127)gaG>gaT	p.E709D	TRANK1_ENST00000429976.2_Missense_Mutation_p.E1259D|TRANK1_ENST00000428977.2_Missense_Mutation_p.E709D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1259					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTATCCTCCTCACTGTAGT	0.483000													13	140					0.00010058	0.000111121	1	1	0
USP9X	8239	broad.mit.edu	37	X	41075235	41075235	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41075235A>T	ENST00000324545.7	+	35	6048	c.5415A>T	c.(5413-5415)gaA>gaT	p.E1805D	USP9X_ENST00000378308.2_Missense_Mutation_p.E1805D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1805					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGACTGGGAAAGAGAATGTG	0.393000													5	88					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9960204	9960204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9960204G>A	ENST00000295981.3	+	5	807	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	IL17RC_ENST00000383812.4_Missense_Mutation_p.V126M|IL17RC_ENST00000455057.1_Missense_Mutation_p.V126M|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.V126M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V126M|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	197						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCCAAGTCGTGCTCTCCTT	0.642000													13	30					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557909	187557909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187557909G>A	ENST00000441802.2	-	5	4011	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1268	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCGGCTCCCGTCTGGCATTT	0.473000										HNSCC(5;0.00058)			88	119					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320530	47320530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47320530G>A	ENST00000400314.1	+	6	553	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PCBP3_ENST00000449640.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400304.1_Missense_Mutation_p.R40H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R72H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	72	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAAGATGCGTGAGGAGGTG	0.607000													15	30					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50966452	50966452	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50966452G>T	ENST00000374103.4	-	2	272	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	OGDHL_ENST00000419399.1_Missense_Mutation_p.P63T|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	63					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACTCTGGGGGTTTTCCAAC	0.662000													9	103					4.68919e-08	5.58064e-08	1	1	0
FFAR4	338557	broad.mit.edu	37	10	95326896	95326896	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95326896T>C	ENST00000371483.4	+	1	475	c.419T>C	c.(418-420)aTc>aCc	p.I140T	FFAR4_ENST00000604414.1_Missense_Mutation_p.I140T|FFAR4_ENST00000371481.4_Missense_Mutation_p.I140T	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		ATGGTGTGCATCGTGCACCTG	0.711000													8	9					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65564502	65564502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65564502G>T	ENST00000308330.2	+	1	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	376					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACTGACATGGACTCAACCTT	0.527000													15	32					6.72482e-11	8.32712e-11	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134164	91134164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91134164T>C	ENST00000373094.1	+	2	3770	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	PCDH11X_ENST00000373097.1_Silent_p.C975C|PCDH11X_ENST00000395337.2_Silent_p.C975C|PCDH11X_ENST00000406881.1_Silent_p.C975C|PCDH11X_ENST00000361724.1_Silent_p.C975C|PCDH11X_ENST00000504220.1_Silent_p.C975C|PCDH11X_ENST00000298274.8_Silent_p.C975C|PCDH11X_ENST00000361655.2_Silent_p.C975C|PCDH11X_ENST00000373088.1_Silent_p.C975C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	975					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTGGCCTGTGACTCTATCT	0.512000													35	125					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454686	37454686	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37454686C>T	ENST00000234170.5	-	2	1795		c.e2+1			NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGTTCTTACCTGTATAATG	0.363000													41	78					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10402092	10402092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10402092A>G	ENST00000226207.5	-	30	4126	c.4032T>C	c.(4030-4032)tgT>tgC	p.C1344C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1344						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGCAGGTCACAGTCATGGC	0.512000													10	55					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665884	25665884	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25665884T>C	ENST00000435706.2	-	20	2585	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	TOP2B_ENST00000264331.4_Missense_Mutation_p.N800S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	800					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTAATGTTGTTACTTCCCAC	0.373000													48	64					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16558674	16558674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16558674G>A	ENST00000375599.3	-	5	1065	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	216	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TCCAGTGTGCGCCCATCAGCC	0.706000													12	21					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446802	10446802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446802C>T	ENST00000326756.3	-	3	1589	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTCACCATACGTTCAGAATT	0.413000													81	167					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522708	79522708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79522708C>T	ENST00000264908.6	+	11	1154	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ANXA3_ENST00000512884.1_Missense_Mutation_p.H220Y|ANXA3_ENST00000503570.2_Missense_Mutation_p.H220Y	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	259					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAAAGACTGCATCGAGCCTT	0.383000													20	38					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51061795	51061795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51061795C>T	ENST00000396153.2	-	9	1289	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAF1_ENST00000545823.1_Missense_Mutation_p.E38K|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.E280K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	280					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGCTTACTTCTTCCGACTGT	0.488000													16	13					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122828104	122828104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122828104A>G	ENST00000227349.2	+	8	2341	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	C11orf63_ENST00000531316.1_Missense_Mutation_p.K682E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	682										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAATATGCAAAACAAGTCAA	0.373000													7	98					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374441	16374441	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374441G>A	ENST00000375679.4	+	5	511	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGGTGTGGTCTTGGAGGA	0.582000													33	33					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156750996	156750996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156750996G>T	ENST00000347377.6	+	16	2170	c.1739G>T	c.(1738-1740)aGg>aTg	p.R580M	CYFIP2_ENST00000541131.1_Missense_Mutation_p.R505M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R384M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R279M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R554M|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R580M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R605M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	605					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACCCTGAGGAGCAGCCTG	0.493000													6	8					5.18039e-06	5.91835e-06	1	1	0
DNM3	26052	broad.mit.edu	37	1	172348281	172348281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172348281G>T	ENST00000358155.4	+	18	2193	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	DNM3_ENST00000367731.1_Missense_Mutation_p.D669Y|DNM3_ENST00000355305.5_Missense_Mutation_p.D679Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	679	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGTATCCGAGATCTAATTCC	0.398000													5	31					1.23904e-05	1.39987e-05	1	1	0
NUP98	4928	broad.mit.edu	37	11	3720329	3720329	+	Missense_Mutation	SNP	G	G	T	rs144357388		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3720329G>T	ENST00000324932.7	-	25	4412	c.3992C>A	c.(3991-3993)tCt>tAt	p.S1331Y	NUP98_ENST00000359171.4_Missense_Mutation_p.S1331Y|NUP98_ENST00000355260.3_Missense_Mutation_p.S1331Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1348					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGGGCCAGAGAGCAGGCCTC	0.542000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								7	199					2.7689e-08	3.31013e-08	1	1	0
LAT	0	broad.mit.edu	37	16	28997063	28997063	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28997063T>C	ENST00000395456.2	+	2	450		c.e2+2		LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000360872.5_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_Splice_Site|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000395461.3_Splice_Site	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCAGATAGGTGAGTCCGCCC	0.647000													74	103					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201322	8201322	+	Missense_Mutation	SNP	C	C	T	rs142403623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8201322C>T	ENST00000600128.1	-	11	1709	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	FBN3_ENST00000270509.2_Missense_Mutation_p.R432H|FBN3_ENST00000601739.1_Missense_Mutation_p.R432H			Q75N90	FBN3_HUMAN	fibrillin 3	432	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACTCGCAGCGGTAGCTGGA	0.642000													30	47					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186573858	186573858	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186573858A>G	ENST00000431808.1	-	8	855	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	SORBS2_ENST00000418609.1_Missense_Mutation_p.Y17H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y184H|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y98H|SORBS2_ENST00000393528.3_Missense_Mutation_p.Y144H|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y184H|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y198H|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y277H|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y167H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	98	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCGTCTTGTACCAGTCCTTG	0.473000													5	61					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129289894	129289894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129289894G>T	ENST00000393239.1	-	18	3767	c.3589C>A	c.(3589-3591)Ctc>Atc	p.L1197I	PLXND1_ENST00000324093.4_Missense_Mutation_p.L1197I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1197					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATAACGAGGGTGAGAGGC	0.662000													14	185					0.000151284	0.000166931	1	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316066	73316066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316066G>T	ENST00000258098.6	-	2	1049	c.809C>A	c.(808-810)cCt>cAt	p.P270H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	270					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTCGGCGCCAGGTCCCTGGTA	0.682000													13	17					0.00185496	0.00197886	1	1	0
IST1	9798	broad.mit.edu	37	16	71949616	71949616	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71949616T>C	ENST00000378799.6	+	2	429	c.73T>C	c.(73-75)Ttg>Ctg	p.L25L	IST1_ENST00000535424.1_Silent_p.L38L|IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Silent_p.L25L|RP11-498D10.4_ENST00000568581.1_Silent_p.L25L|IST1_ENST00000329908.8_Silent_p.L25L|IST1_ENST00000606369.1_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000541571.2_Silent_p.L25L|IST1_ENST00000378798.5_Silent_p.L25L	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	25	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										CCTTAAACTATTGGAGAAAAA	0.403000													27	48					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990679	63990679	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:63990679G>T	ENST00000370657.4	-	4	810	c.777C>A	c.(775-777)tcC>tcA	p.S259S	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCCTGGTAGAGGAGGAAAAAC	0.438000													5	31					0.000602214	0.000649039	1	1	0
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245747G>A	ENST00000308378.3	-	11	1714	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	470										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGTTGGAATGATCTTATCAG	0.403000													8	57					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073125	17073125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17073125C>A	ENST00000359963.3	-	1	575	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	106					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCACGAAGGCTGTGCCGTCC	0.662000													10	24					0.000442599	0.00048047	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45386444	45386444	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45386444G>A	ENST00000389039.6	-	34	4936	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	DUOX2_ENST00000603300.1_Silent_p.C1517C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1517					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGAGGGCCGCAGCTGAACA	0.562000													16	19					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361031	48361031	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48361031G>C	ENST00000429772.2	+	7	756	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	TMEM106C_ENST00000449758.2_Missense_Mutation_p.V196L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.V215L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.V196L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.V196L|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V144L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCACAACATAGTGATCTTCAT	0.498000													15	160					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132740835	132740835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132740835C>T	ENST00000420781.1	-	4	472	c.254G>A	c.(253-255)gGg>gAg	p.G85E	FNBP1_ENST00000355681.3_Missense_Mutation_p.G85E|FNBP1_ENST00000446176.2_Missense_Mutation_p.G85E			Q96RU3	FNBP1_HUMAN	formin binding protein 1	85	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCATGCTGCCCTGCGTAATC	0.443000			T	MLL	AML								21	29					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414270	61414270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61414270G>T	ENST00000395348.3	-	5	1150	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L172M	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	172					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCCACAATCAGCAAGCATCCA	0.438000													35	76					2.32173e-10	2.85835e-10	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897732	72897732	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72897732G>A	ENST00000308744.6	+	1	212	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NPFFR2_ENST00000344413.5_Silent_p.Q38Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	38					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGTCCAGCAGCGCGGCGGGC	0.677000													16	19					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793914	39793914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39793914C>T	ENST00000373272.2	+	14	1821	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	PLCG1_ENST00000373271.1_Silent_p.Y472Y|PLCG1_ENST00000244007.3_Silent_p.Y472Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	472					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTGCCTACGAGGAGGTGC	0.562000													13	52					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41323302	41323302	+	Silent	SNP	T	T	C	rs142931494	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41323302T>C	ENST00000323563.6	-	6	966	c.930A>G	c.(928-930)ctA>ctG	p.L310L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	310						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACTCCCATAGTTTCCCCT	0.378000													46	94					0	0	1	0	0
MEGT1	0	broad.mit.edu	37	6	31675698	31675698	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31675698C>A	ENST00000503322.1	+	3	436	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	LY6G6F_ENST00000556581.1_Missense_Mutation_p.L145M|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.L145M																							CAATGTCCTCCTGTGCTCTGT	0.607000													8	66					5.18039e-06	5.91835e-06	1	1	0
PADI1	29943	broad.mit.edu	37	1	17552316	17552316	+	Missense_Mutation	SNP	G	G	A	rs144288276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17552316G>A	ENST00000375471.4	+	5	511	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACCTGGCGCTGGGGCCCT	0.587000													43	50					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350450	7350450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7350450C>T	ENST00000306071.2	+	5	509	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRNB1_ENST00000536404.2_Missense_Mutation_p.R76C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R76C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	148					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGGCATCTATCGCAGCAGCTG	0.572000													20	21					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80647251	80647251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647251G>A	ENST00000458043.2	+	13	1270	c.1264G>A	c.(1264-1266)Gta>Ata	p.V422I	OTOGL_ENST00000547103.1_Missense_Mutation_p.V422I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGGCCTCGTAATGGACAA	0.328000													14	34					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49449062	49449062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49449062C>T	ENST00000301067.7	-	1	45	c.46G>A	c.(46-48)Gca>Aca	p.A16T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TACTCACCTGCCGGTTCTGAA	0.502000													12	27					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64441793	64441793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64441793C>T	ENST00000282869.5	-	3	1290	c.6G>A	c.(4-6)aaG>aaA	p.K2K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCATGTCTCTTCATATTCC	0.403000													100	84					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328853	28328853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28328853C>T	ENST00000341901.4	+	2	930	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	47						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGGCCGCCAGCGACGTCACCA	0.632000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	25					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78324657	78324657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78324657G>T	ENST00000370791.3	+	9	1063	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	FAM73A_ENST00000443751.2_Missense_Mutation_p.S306I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	344						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATACCTACAGCCTGGAGTCC	0.458000													26	59					6.12954e-19	8.01027e-19	1	1	0
ATG7	10533	broad.mit.edu	37	3	11468278	11468278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468278G>A	ENST00000354449.3	+	18	1982	c.1956_splice	c.e18-1	p.V653_splice	ATG7_ENST00000354956.5_Splice_Site_p.V626_splice|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	653					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTTTTACAGGTTCTTGATCA	0.313000													14	27					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984486	51984486	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51984486T>C	ENST00000220478.3	+	7	1224	c.821T>C	c.(820-822)cTc>cCc	p.L274P	SCG3_ENST00000542355.2_Missense_Mutation_p.L42P	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	274				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTTGAGGAACTCCAATATTTC	0.383000													6	93					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056632	13056632	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056632C>A	ENST00000506447.1	+	19	4123	c.4043C>A	c.(4042-4044)cCt>cAt	p.P1348H	CEP192_ENST00000325971.8_Missense_Mutation_p.P752H|CEP192_ENST00000430049.2_Missense_Mutation_p.P873H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	943										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAACCTTTTCCTGTGCCGTCT	0.413000													76	102					1.10181e-30	1.47666e-30	1	1	0
LYPLA2	11313	broad.mit.edu	37	1	24120206	24120206	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24120206C>A	ENST00000374514.3	+	5	495	c.188C>A	c.(187-189)cCt>cAt	p.P63H	LYPLA2_ENST00000374501.1_5'UTR|LYPLA2_ENST00000400061.1_Missense_Mutation_p.P63H|LYPLA2_ENST00000374505.2_Missense_Mutation_p.P63H|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_Missense_Mutation_p.P63H|LYPLA2_ENST00000374503.3_Missense_Mutation_p.P63H	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	63					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTAGGATCCCTGTGACCCTC	0.657000													5	157					0.014758	0.0152625	1	1	0
PARP2	10038	broad.mit.edu	37	14	20824133	20824133	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824133C>A	ENST00000527915.1	+	11	1088	c.1083C>A	c.(1081-1083)caC>caA	p.H361Q	PARP2_ENST00000429687.3_Missense_Mutation_p.H348Q|PARP2_ENST00000250416.5_Missense_Mutation_p.H361Q			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	361	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGGACCAACACTATAGAAACC	0.388000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	98					0.014758	0.0152625	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95906101	95906101	+	Silent	SNP	C	C	T	rs141403586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95906101C>T	ENST00000334258.5	-	12	2108	c.2094G>A	c.(2092-2094)ccG>ccA	p.P698P	SYNE3_ENST00000557275.1_Silent_p.P698P|SYNE3_ENST00000554873.1_Silent_p.P455P	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCTCCTTCTCCGGGAATTCTG	0.622000													10	27					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111637817	111637817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111637817C>A	ENST00000502935.1	-	13	1302		c.e13-1		XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGGAACCTATGAGAAAA	0.443000													20	35					3.10358e-05	3.48756e-05	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134063963	134063963	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134063963G>T	ENST00000534548.2	-	15	1836	c.1772C>A	c.(1771-1773)cCt>cAt	p.P591H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	591					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGACACTGCAGGGTCCCGACA	0.458000													4	60					0.00116845	0.00124821	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77147402	77147402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77147402G>T	ENST00000461745.1	+	2	1199	c.299G>T	c.(298-300)aGg>aTg	p.R100M	ROBO2_ENST00000332191.8_Missense_Mutation_p.R100M|ROBO2_ENST00000487694.3_Missense_Mutation_p.R116M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	100	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACGGGCGCAGGAGTAAACCT	0.537000													7	34					0.000157383	0.00017284	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1064315	1064315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1064315G>A	ENST00000264930.5	-	19	2533	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	830					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGAGTCGACGTTCTTGGCCA	0.682000													7	15					0	0	1	0	0
ZNF200	0	broad.mit.edu	37	16	3274160	3274160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3274160G>T	ENST00000431561.3	-	5	1532	c.920C>A	c.(919-921)cCt>cAt	p.P307H	ZNF200_ENST00000396871.4_Missense_Mutation_p.P306H|ZNF200_ENST00000414144.2_Missense_Mutation_p.P307H|ZNF200_ENST00000396870.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396868.3_Missense_Mutation_p.P306H|ZNF200_ENST00000575948.1_Missense_Mutation_p.P306H|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGGAATAAGGTTTCTCTCC	0.388000													22	104					2.32416e-17	3.01417e-17	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606806	55606806	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55606806C>A	ENST00000378396.1	+	1	579	c.579C>A	c.(577-579)gaC>gaA	p.D193E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTACCCTGACTCTTATCTCA	0.393000													5	100					0.184627	0.186383	1	1	0
ZNF37A	7587	broad.mit.edu	37	10	38406660	38406660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406660C>T	ENST00000351773.3	+	8	1411	c.581C>T	c.(580-582)aCa>aTa	p.T194I	ZNF37A_ENST00000361085.4_Missense_Mutation_p.T194I	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCAGCAAACACATCCAAGA	0.383000													30	51					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152722419	152722419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152722419C>T	ENST00000367255.5	-	47	7484	c.6883G>A	c.(6883-6885)Gca>Aca	p.A2295T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A2332T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2295T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2302T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2295					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCCTTTTGCTACTTCAGTT	0.363000										HNSCC(10;0.0054)			29	56					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209452	32209452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209452C>T	ENST00000396193.1	-	3	846	c.253G>A	c.(253-255)Gct>Act	p.A85T		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTCATCAGCTAGGATCTCC	0.498000													20	64					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46963905	46963905	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46963905G>T	ENST00000374323.3	-	6	1804	c.1217C>A	c.(1216-1218)gCc>gAc	p.A406D	SYT15_ENST00000374321.4_Missense_Mutation_p.A353D|SYT15_ENST00000503753.1_Missense_Mutation_p.A353D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.A353D			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	353						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTGGCATCGGCCTTGAAGCT	0.552000													18	72					1.67942e-08	2.01326e-08	1	1	0
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	24					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92404128	92404128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92404128G>A	ENST00000265734.4	-	3	662	c.251C>T	c.(250-252)aCa>aTa	p.T84I	CDK6_ENST00000424848.2_Missense_Mutation_p.T84I	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	84	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCGTGACACTGTGCACACATC	0.388000			T	MLLT10	ALL								4	77					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8190852	8190852	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8190852G>A	ENST00000600128.1	-	22	3069	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	FBN3_ENST00000270509.2_Silent_p.C885C|FBN3_ENST00000601739.1_Silent_p.C885C			Q75N90	FBN3_HUMAN	fibrillin 3	885	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGTGTTGACGCAACGCCCGT	0.637000													14	23					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108153589	108153589	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108153589T>C	ENST00000278616.4	+	25	4114	c.3729T>C	c.(3727-3729)aaT>aaC	p.N1243N	ATM_ENST00000452508.2_Silent_p.N1243N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1243					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.N1240fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTACACAAATATTGAGGATT	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	29					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617249	111617249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111617249G>A	ENST00000428084.1	-	8	911	c.639C>T	c.(637-639)aaC>aaT	p.N213N	DOCK4_ENST00000437633.1_Silent_p.N213N|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	213					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTCTCCCAGGTTGGAACACA	0.507000													6	16					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397138	5397138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5397138G>A	ENST00000341928.2	-	18	3100	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	EPB41L3_ENST00000542146.1_Silent_p.A225A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Silent_p.A217A|EPB41L3_ENST00000540638.2_Silent_p.A698A|EPB41L3_ENST00000342933.3_Silent_p.A920A|EPB41L3_ENST00000400111.3_Silent_p.A698A|EPB41L3_ENST00000544123.1_Silent_p.A751A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAAGCAGCGGCTGTCTCTT	0.507000													6	64					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16059187	16059187	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16059187G>A	ENST00000375799.3	+	19	3113	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L942L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	962					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCGATTGCTGTCTGCACTGA	0.617000													3	4					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70724200	70724200	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70724200A>G	ENST00000229195.3	+	6	1099	c.520A>G	c.(520-522)Ata>Gta	p.I174V	CNOT2_ENST00000418359.3_Missense_Mutation_p.I174V|CNOT2_ENST00000548230.1_3'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	174					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCCAAGCATAATATGTATGCC	0.453000													4	122					0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052906	66052906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66052906C>T	ENST00000376901.4	-	6	771	c.587G>A	c.(586-588)cGc>cAc	p.R196H	YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Missense_Mutation_p.R53H	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	196					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGTCACTGCGCACGGTGGC	0.647000													25	25					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332801	31332801	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31332801A>G	ENST00000544665.3	+	16	1929	c.1858A>G	c.(1858-1860)Aga>Gga	p.R620G	ITGAM_ENST00000287497.8_Missense_Mutation_p.R619G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	619					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCAGTACTGAGAGTCAAGGC	0.493000													18	272					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605088	7605088	+	Silent	SNP	C	C	T	rs73248508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7605088C>T	ENST00000316024.5	+	6	3284	c.936C>T	c.(934-936)tgC>tgT	p.C312C	WRAP53_ENST00000396463.2_Silent_p.C312C|WRAP53_ENST00000534050.1_Silent_p.C279C|WRAP53_ENST00000457584.2_Silent_p.C312C|WRAP53_ENST00000431639.2_Silent_p.C312C			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	312					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCCGAGACTGCGAGGTCCGAG	0.632000													3	8					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051083	44051083	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051083C>T	ENST00000543989.1	-	5	1813	c.108G>A	c.(106-108)ccG>ccA	p.P36P	ABCG5_ENST00000405322.1_Silent_p.P260P|ABCG5_ENST00000260645.1_Silent_p.P431P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	431					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.P431P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCTGTGTACGGGGTGGCGC	0.537000													14	19					0	0	1	0	0
RP11-166N6.3	0	broad.mit.edu	37	3	150659373	150659373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150659373A>G	ENST00000569170.1	-	1	157	c.158T>C	c.(157-159)tTt>tCt	p.F53S	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000327047.1_Silent_p.I143I|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.I143I|CLRN1_ENST00000295911.2_Silent_p.I67I																							ACTTACCTGAAATGAAGCTCA	0.363000													10	26					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879745	75879745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879745G>A	ENST00000393909.2	+	4	462	c.437G>A	c.(436-438)gGa>gAa	p.G146E	MRPL19_ENST00000409374.1_Missense_Mutation_p.G146E|MRPL19_ENST00000358788.6_Missense_Mutation_p.G146E	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	146					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGAGGACTTGGAGCTACTTTC	0.383000													59	89					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285122	27285122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27285122C>A	ENST00000317338.12	-	11	2573	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	SEZ6_ENST00000360295.9_Missense_Mutation_p.E715D|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E715D			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	715	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATTGGGGATCTCAGGCAGCT	0.622000													16	58					2.4624e-09	2.98951e-09	1	1	0
ELF2	1998	broad.mit.edu	37	4	139981701	139981701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981701C>A	ENST00000394235.2	-	9	1400	c.898G>T	c.(898-900)Gca>Tca	p.A300S	ELF2_ENST00000379549.2_Missense_Mutation_p.A223S|ELF2_ENST00000358635.3_Missense_Mutation_p.A252S|ELF2_ENST00000379550.1_Missense_Mutation_p.A312S|ELF2_ENST00000510408.1_Missense_Mutation_p.A240S|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000265495.4_Missense_Mutation_p.A300S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	312					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTAGTTCCTGCTAAATCTTCA	0.403000													10	132					2.17888e-05	2.45068e-05	1	1	0
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139107024	139107024	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139107024A>C	ENST00000354926.4	+	10	1471	c.1117A>C	c.(1117-1119)Agt>Cgt	p.S373R	C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.S439R|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S372R|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S370R	NM_016019.3	NP_057103.2																					GTCCTATGAGAGTGCTAATGG	0.473000													29	99					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817991	200817991	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200817991T>G	ENST00000358823.2	+	11	2364	c.2094T>G	c.(2092-2094)aaT>aaG	p.N698K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N682K|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.N709K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	709						cytoplasm|microtubule	protein binding										GGAAACTGAATCATACCGATG	0.418000													11	80					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727515	42727515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42727515C>T	ENST00000287777.4	+	1	505	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_152393.2	NP_689606.2			kelch-like family member 40																		ACTGCTTGGCCGTCTTCCGTC	0.642000													41	55					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541339	55541339	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541339C>A	ENST00000361760.1	+	1	426	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCAGAAGCTCTGTGCTCTTC	0.433000													14	206					3.41278e-10	4.19267e-10	1	1	0
VGLL4	9686	broad.mit.edu	37	3	11643484	11643484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11643484A>G	ENST00000273038.3	-	3	442	c.77T>C	c.(76-78)cTc>cCc	p.L26P	VGLL4_ENST00000480288.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.L32P|VGLL4_ENST00000404339.1_Missense_Mutation_p.L31P|VGLL4_ENST00000413604.1_5'UTR	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTCTCCCCTGAGAGCAGCTTC	0.642000													7	33					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795491	18795491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTGGGATACGACTCTGTCT	0.443000													10	20					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30439249	30439249	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30439249A>G	ENST00000286788.4	-	5	731	c.525T>C	c.(523-525)aaT>aaC	p.N175N	CCT8_ENST00000540844.1_Silent_p.N102N|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.N156N	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	175					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAATACTTCATTACCATATT	0.333000													16	73					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47201080	47201080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47201080T>C	ENST00000539589.1	-	7	1003	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	221					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91758259	91758259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91758259C>A	ENST00000003100.8	-	3	568	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.D30Y	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	129					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTGTAGACATCTTCTGCATTC	0.413000													69	188					3.12118e-38	4.20642e-38	1	1	0
APPBP2	10513	broad.mit.edu	37	17	58538038	58538038	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58538038T>G	ENST00000083182.3	-	9	1334	c.1047A>C	c.(1045-1047)aaA>aaC	p.K349N	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	349					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CATTGTCAAATTTCCCAGAGC	0.368000													3	49					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502298	19502298	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19502298G>A	ENST00000407835.1	+	15	1500	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	CDC45_ENST00000404724.3_Missense_Mutation_p.G369D|CDC45_ENST00000437685.2_Missense_Mutation_p.G447D|CDC45_ENST00000263201.1_Missense_Mutation_p.G415D			O75419	CDC45_HUMAN	cell division cycle 45	415					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGTACCATGGCCTGGAACTC	0.537000													5	33					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95650977	95650977	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95650977T>C	ENST00000436874.1	+	3	325	c.220T>C	c.(220-222)Tct>Cct	p.S74P	VEZT_ENST00000261219.6_Missense_Mutation_p.S26P|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	74						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GATTTTTTTTTCTCAGTGCAA	0.343000													6	11					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35208937	35208937	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35208937G>A	ENST00000381318.3	+	29	3949		c.e29+1		ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCAGCAATGTAAGTGCCCT	0.507000													16	41					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322744	161322744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161322744C>T	ENST00000428797.2	+	10	1284	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GABRA1_ENST00000420560.1_Missense_Mutation_p.A310V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A310V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A310V|GABRA1_ENST00000393943.4_Missense_Mutation_p.A310V|GABRA1_ENST00000437025.2_Missense_Mutation_p.A310V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	310					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTGGCTTATGCAACAGCTATG	0.413000													40	49					0	0	1	0	0
PEBP4	157310	broad.mit.edu	37	8	22584731	22584731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						lysosome		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572000													11	23					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501950	45501950	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45501950G>T	ENST00000359600.5	-	9	2121	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	639							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGTACACAGGGGGTCTGCT	0.478000													17	41					1.5739e-10	1.9432e-10	1	1	0
MMP24	10893	broad.mit.edu	37	20	33839824	33839824	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33839824G>T	ENST00000246186.6	+	3	597	c.512_splice	c.e3+1	p.S171_splice	MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	171					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCTACAGGTGCTTCGAC	0.562000													5	41					0.000602214	0.000649039	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8957755	8957755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957755C>T	ENST00000256707.3	-	4	480	c.299G>A	c.(298-300)cGt>cAt	p.R100H	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R100H|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R58H	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	100					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCATATCACGGTGCTCCAA	0.328000													4	95					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356668	48356668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48356668G>A	ENST00000300433.3	+	6	589	c.479G>A	c.(478-480)tGa>tAa	p.*160*	TMEM92_ENST00000507382.1_Silent_p.*160*	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCGGCCTTCTGAGTCACCTCC	0.607000													7	99					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152792774	152792774	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152792774G>A	ENST00000367255.5	-	16	2191	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000495090.2_Silent_p.Y97Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	530					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCCTCCCGTACTTAATGA	0.443000										HNSCC(10;0.0054)			36	69					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415025	43415025	+	Missense_Mutation	SNP	C	C	T	rs144841064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43415025C>T	ENST00000244533.3	+	15	3859	c.3500C>T	c.(3499-3501)aCg>aTg	p.T1167M	ABCC10_ENST00000372530.4_Missense_Mutation_p.T1195M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1195	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGTCCCTGACGGGCCTGCTC	0.627000													33	60					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52724667	52724667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724667A>G	ENST00000394799.2	+	7	775	c.565A>G	c.(565-567)Aca>Gca	p.T189A	GNL3_ENST00000418458.1_Missense_Mutation_p.T201A	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	201					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGAATTGCCAACAGTGGTGTT	0.388000													11	275					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115932853	115932853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115932853C>T	ENST00000238256.3	-	25	2832	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	905					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTAAGATTCCTCCAGCTCAA	0.438000													32	86					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110082040	110082040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110082040A>C	ENST00000355943.3	+	4	581	c.455A>C	c.(454-456)aAa>aCa	p.K152T	SLC25A46_ENST00000504098.1_Missense_Mutation_p.K6T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K61T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K152T|SLC25A46_ENST00000513807.1_5'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	152					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTTTCAACAAAACTCAGGTG	0.289000													7	58					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225448	9225448	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9225448T>C	ENST00000318602.7	-	30	4083	c.3776A>G	c.(3775-3777)cAt>cGt	p.H1259R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1259					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGAGCATGGAGAGCCAC	0.478000													5	21					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10503942	10503942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503942A>G	ENST00000222005.2	-	6	955	c.902T>C	c.(901-903)cTc>cCc	p.L301P		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	301					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CACCTCAGGGAGGGACTCGTA	0.711000													3	18					0	0	1	0	0
RP11-333E13.4	0	broad.mit.edu	37	4	40045275	40045275	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40045275G>A	ENST00000381811.2	-	0	874					NR_027277.1																						CGTTCCTCCAGTTGGTCTCCA	0.592000													13	19					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645983	29645983	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29645983G>T	ENST00000247270.3	-	3	454	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.L17M|EVI2A_ENST00000462804.2_Missense_Mutation_p.L17M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	17						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTCATCAGAAAGGCAAGA	0.398000													75	172					1.15413e-51	1.56096e-51	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82452652	82452652	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82452652C>T	ENST00000370728.1	+	24	4209	c.3564C>T	c.(3562-3564)aaC>aaT	p.N1188N	LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370717.2_Silent_p.N1203N|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370725.1_Silent_p.N1203N|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370721.1_Silent_p.N1113N|LPHN2_ENST00000370723.1_Silent_p.N1190N|LPHN2_ENST00000394879.1_Silent_p.N1190N			O95490	LPHN2_HUMAN	latrophilin 2	1188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCCCTATAACACATTGCTCG	0.388000													23	62					0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114691959	114691959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114691959C>A	ENST00000263238.2	+	6	856	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACTR3_ENST00000535589.2_Missense_Mutation_p.P128H|ACTR3_ENST00000536059.1_Missense_Mutation_p.P117H	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	179					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CATGTCATTCCTGTGGTAAGG	0.378000													8	140					1.26484e-09	1.54084e-09	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46722850	46722850	+	Missense_Mutation	SNP	C	C	T	rs117431144	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46722850C>T	ENST00000318962.4	-	13	1405	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAATCCGTGCCGCAGGCCCTC	0.642000													33	63					0	0	1	0	0
VDR	0	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48251023G>A	ENST00000229022.3	-	7	753	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	VDR_ENST00000550325.1_Missense_Mutation_p.R208C|VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000549336.1_Missense_Mutation_p.R158C|VDR_ENST00000395324.2_Missense_Mutation_p.R158C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	158	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552000													11	24					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4837827	4837827	+	Missense_Mutation	SNP	G	G	A	rs139545711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4837827G>A	ENST00000379333.1	-	17	2136	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SLC23A2_ENST00000338244.1_Missense_Mutation_p.R582W|SLC23A2_ENST00000424750.2_Missense_Mutation_p.R468W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	582					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCCATTTCCGGATTCCTCTT	0.433000													10	22					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967180	81967180	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81967180T>C	ENST00000282701.2	+	2	925	c.605T>C	c.(604-606)aTc>aCc	p.I202T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	202					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTAAAGATATCACTCAACTC	0.438000													18	131					0	0	1	0	0
RP11-1007I13.4	0	broad.mit.edu	37	X	151284076	151284076	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151284076G>A	ENST00000509345.2	-	0	260																											AGACCCACTGGCCTGGAGAGA	0.542000													33	57					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307822	20307822	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20307822A>C	ENST00000335117.8	+	4	360	c.303A>C	c.(301-303)aaA>aaC	p.K101N	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAGCATAAAAGATTCTTACC	0.343000													21	56					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724577	45724577	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45724577G>A	ENST00000297323.7	+	12	2005		c.e12-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTCTTATTCAGTGTTTTCCAG	0.413000													13	130					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882009	1882009	+	Silent	SNP	C	C	T	rs146918202		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1882009C>T	ENST00000518288.1	+	27	3358	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	ARHGEF10_ENST00000262112.6_Silent_p.G1037G|ARHGEF10_ENST00000520359.1_Silent_p.G1003G|ARHGEF10_ENST00000349830.3_Silent_p.G1041G|ARHGEF10_ENST00000398564.1_Silent_p.G1066G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1066					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTTAGGCGTCCTACCAG	0.438000													12	99					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415727	44415727	+	Silent	SNP	G	G	A	rs144725438	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44415727G>A	ENST00000372343.3	+	2	1385	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	241					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGTGAGGCGCTCATTCAGG	0.597000													7	14					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660256	77660256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77660256C>T	ENST00000296043.6	+	5	1883	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	310					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAAGACAGTCTATGACACCC	0.572000													4	72					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32364315	32364315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32364315G>T	ENST00000265069.8	-	18	3004	c.2902C>A	c.(2902-2904)Ctg>Atg	p.L968M	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	968	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTCTTCTCAGTGCATCCCCA	0.358000													12	119					2.23348e-06	2.57349e-06	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23847570	23847570	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23847570A>G	ENST00000269142.5	+	3	1578	c.580A>G	c.(580-582)Aag>Gag	p.K194E	TAF4B_ENST00000578121.1_Missense_Mutation_p.K194E|TAF4B_ENST00000400466.2_Missense_Mutation_p.K194E	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	194					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTGTTCCGAAGCCTTCCTC	0.393000													28	45					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126734114G>T	ENST00000251772.4	+	14	2965	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	PLXNA1_ENST00000393409.2_Missense_Mutation_p.G989C			Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662000													21	30					1.22574e-08	1.47244e-08	1	1	0
LIPK	643414	broad.mit.edu	37	10	90486579	90486579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90486579C>T	ENST00000404190.1	+	2	133	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	45					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CTGGGGTTATCCTTATGAAGA	0.328000													3	10					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67356837	67356837	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67356837C>A	ENST00000371026.3	-	4	698	c.643_splice	c.e4+1	p.D215_splice	WDR78_ENST00000371023.3_Splice_Site_p.D215_splice|WDR78_ENST00000371022.3_Splice_Site_p.D215_splice|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTCATTACCTGTGAAACTA	0.328000													54	78					2.43277e-16	3.1399e-16	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145317698	145317698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145317698C>T	ENST00000511217.1	+	1	259	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SH3RF2_ENST00000359120.4_Silent_p.L69L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	69							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGCTCGTGCGCCTTC	0.622000													31	31					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115594912	115594912	+	Nonstop_Mutation	SNP	C	C	A	rs113837788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115594912C>A	ENST00000361384.2	-	9	4039	c.3122G>T	c.(3121-3123)tGa>tTa	p.*1041L	DCLRE1A_ENST00000369305.1_Nonstop_Mutation_p.*1041L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	0					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGGTATCATCAATATCCAGC	0.378000								Other identified genes with known or suspected DNA repair function					5	116					0.014758	0.0152625	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2216561	2216561	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216561G>A	ENST00000398665.3	+	20	2241	c.2205G>A	c.(2203-2205)acG>acA	p.T735T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	735						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGAACACGCCCCAGTACC	0.667000													25	29					0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	334193	334193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:334193G>A	ENST00000382291.3	+	4	769	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	NRSN2_ENST00000382285.2_Missense_Mutation_p.A177T|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	177						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTTCCGCAATGCCAGTGGCCA	0.617000													14	107					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100732859	100732859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100732859C>A	ENST00000360820.2	+	18	3136	c.2699C>A	c.(2698-2700)cCt>cAt	p.P900H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	900	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGGGTAATCCTTTCTTTAAC	0.428000													58	84					6.3091e-27	8.41002e-27	1	1	0
IL23R	149233	broad.mit.edu	37	1	67724629	67724629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724629G>T	ENST00000347310.5	+	11	1879	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	IL23R_ENST00000395227.1_Nonsense_Mutation_p.E315*|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	570					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTAGAGGAGGAAACCACCAT	0.398000													18	62					1.02788e-11	1.28409e-11	1	1	0
SBF1	6305	broad.mit.edu	37	22	50905974	50905974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50905974G>A	ENST00000380817.2	-	4	608	c.425C>T	c.(424-426)aCg>aTg	p.T142M	SBF1_ENST00000390679.3_Missense_Mutation_p.T142M|SBF1_ENST00000348911.6_Missense_Mutation_p.T143M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	142	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAACACCTCCGTGTGGTCGAG	0.657000													47	37					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74709259	74709259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74709259G>T	ENST00000393965.3	-	1	1102	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	CCDC142_ENST00000290418.4_Missense_Mutation_p.L236I|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	236										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AAGAGGCGGAGCACACGGGAC	0.667000													6	41					0.0215528	0.0221649	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11593175	11593175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11593175C>A	ENST00000262442.3	+	20	4104	c.4036C>A	c.(4036-4038)Ctg>Atg	p.L1346M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1346M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1346	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCCGAAACCTGGACAAGGA	0.572000													4	6					0.150653	0.152692	1	1	0
NDUFAF3	25915	broad.mit.edu	37	3	49059860	49059860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49059860G>A	ENST00000326925.6	+	2	1293	c.159G>A	c.(157-159)gaG>gaA	p.E53E	NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000451378.2_5'UTR|NDUFAF3_ENST00000395458.2_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	53					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCAACGCGAGGCCGCTCAGG	0.662000													9	21					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076146	101076146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101076146C>T	ENST00000360863.6	-	8	1044	c.850G>A	c.(850-852)Gac>Aac	p.D284N	RGS22_ENST00000523437.1_Missense_Mutation_p.D272N|RGS22_ENST00000523287.1_Missense_Mutation_p.D103N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	284					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373000													77	97					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539887	31539887	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31539887G>A	ENST00000302312.4	+	3	287	c.184G>A	c.(184-186)Gag>Aag	p.E62K	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	62					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GGAGCCCCAAGAGCGAGACAA	0.542000													21	31					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4430615	4430615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4430615T>C	ENST00000301280.5	+	11	2025	c.1924T>C	c.(1924-1926)Tct>Cct	p.S642P	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	642	Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTACCTGTCTGAGGACGA	0.507000								Chromatin Structure					4	59					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62198524	62198524	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62198524G>A	ENST00000467148.1	-	6	2256	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	HELZ2_ENST00000427522.2_Silent_p.H160H	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCGCCACCTCGTGAGTCTCCT	0.657000													8	54					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155884087	155884087	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155884087G>T	ENST00000368321.3	-	14	1693	c.1670C>A	c.(1669-1671)aCt>aAt	p.T557N	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	557										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTCTGTAGTTTTCATCTT	0.403000													40	22					4.14481e-20	5.433e-20	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107554055	107554055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107554055C>A	ENST00000394872.2	-	3	298	c.67G>T	c.(67-69)Gag>Tag	p.E23*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.E24*|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E23*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E23*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	24	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGACTTCTCTCCCTATTAA	0.413000									Alport syndrome with Diffuse Leiomyomatosis				5	64					0.014758	0.0152625	1	1	0
FAM208A	23272	broad.mit.edu	37	3	56667283	56667283	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56667283G>T	ENST00000431842.2	-	11	3149	c.2225C>A	c.(2224-2226)cCt>cAt	p.P742H	FAM208A_ENST00000493960.2_Missense_Mutation_p.P1179H|FAM208A_ENST00000355628.5_Missense_Mutation_p.P1118H	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1179										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CATATCACCAGGTACAATATG	0.418000													14	164					3.27435e-08	3.90559e-08	1	1	0
RNF38	152006	broad.mit.edu	37	9	36357831	36357831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36357831G>T	ENST00000357058.3	-	5	1036	c.430C>A	c.(430-432)Cca>Aca	p.P144T	RNF38_ENST00000377885.2_Missense_Mutation_p.P144T|RNF38_ENST00000350199.4_Missense_Mutation_p.P144T|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_Missense_Mutation_p.P151T|RNF38_ENST00000259605.6_Missense_Mutation_p.P227T|RNF38_ENST00000353739.4_Missense_Mutation_p.P177T	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	227							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGCATCCTGGGACCTGCTGT	0.483000													29	33					1.77063e-15	2.27219e-15	1	1	0
CASP4	837	broad.mit.edu	37	11	104819404	104819404	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104819404C>A	ENST00000444739.2	-	6	1692		c.e6-1		CASP4_ENST00000393150.3_Splice_Site	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase						apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCACGGTTTGCTATGGAGACA	0.473000													16	32					9.16793e-09	1.10245e-08	1	1	0
PCDHGB2	0	broad.mit.edu	37	5	140741962	140741962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741962C>A	ENST00000522605.1	+	1	2260	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTACAACCTGTGTGTTGC	0.507000													5	159					0.000602214	0.000649039	1	1	0
RP1	6101	broad.mit.edu	37	8	55542081	55542081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55542081C>A	ENST00000220676.1	+	4	5787	c.5639C>A	c.(5638-5640)cCt>cAt	p.P1880H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1880					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1880L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGTCTACCCTGTCTCTGAT	0.398000													5	65					0.184627	0.186383	1	1	0
HDGFRP2	0	broad.mit.edu	37	19	4499545	4499545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499545C>T	ENST00000301284.4	+	14	1697	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R545W	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		545					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTCTATACCCGGCTCAAGTC	0.592000													3	12					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254898	51254898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254898C>T	ENST00000404971.1	-	2	1853	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NRXN1_ENST00000402717.3_Missense_Mutation_p.A172T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A172T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A172T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A172T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A172T|NRXN1_ENST00000405581.1_Missense_Mutation_p.A172T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	172	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACCGAGGCCAGGGTGAGC	0.677000													7	6					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654856	46654856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46654856G>A	ENST00000253255.5	-	1	4363	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1455					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCGCTTGAGGTTTCCTCTG	0.383000													8	128					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56716231	56716231	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56716231G>A	ENST00000425394.2	-	19	3061	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	PAN2_ENST00000548043.1_Silent_p.D895D|PAN2_ENST00000257931.5_Silent_p.D894D|PAN2_ENST00000440411.3_Silent_p.D891D	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	895					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAATAAGAAAGTCATTGAACA	0.403000													19	36					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445789	49445789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445789C>A	ENST00000301067.7	-	10	1676	c.1677G>T	c.(1675-1677)gaG>gaT	p.E559D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGGGCAATTCCTCAGGTGGCG	0.597000													54	73					1.14385e-22	1.51088e-22	1	1	0
SPRY1	10252	broad.mit.edu	37	4	124323657	124323657	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323657A>G	ENST00000394339.2	+	2	1251	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SPRY1_ENST00000339241.1_Missense_Mutation_p.Y304C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	304	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AACACTGTCTATTGTAAGCTG	0.502000													11	106					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28605525	28605525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605525G>T	ENST00000545336.1	+	14	1458	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	CCDC91_ENST00000381256.1_Missense_Mutation_p.D311Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.D317Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D347Y|CCDC91_ENST00000539107.1_Missense_Mutation_p.D311Y			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	347	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACATGCAAAAGATCAAGAAAA	0.289000													4	52					0.00909568	0.00947522	1	1	0
SCML2	10389	broad.mit.edu	37	X	18276362	18276362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18276362C>T	ENST00000251900.4	-	10	1234	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SCML2_ENST00000398048.3_Missense_Mutation_p.V95I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	359					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATAGACACAGACTTGA	0.423000													36	43					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25507058	25507058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25507058C>T	ENST00000278886.6	-	2	239	c.166G>A	c.(166-168)Gac>Aac	p.D56N	NINL_ENST00000422516.1_Missense_Mutation_p.D56N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	56	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGAAATGGTCGTTTCCGAGA	0.527000													55	83					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160147442	160147442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160147442C>T	ENST00000368081.4	+	18	3195	c.2724C>T	c.(2722-2724)taC>taT	p.Y908Y	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.Y44Y	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	908					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Y908Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGACAGCTACGGACAGCAGT	0.483000													4	70					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20689654	20689654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20689654G>T	ENST00000404938.2	+	12	1868	c.1216G>T	c.(1216-1218)Ggt>Tgt	p.G406C	ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	590	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATTCTGAAAGGTCTGAATCT	0.393000													9	22					0.000274275	0.000298791	1	1	0
PIGQ	9091	broad.mit.edu	37	16	633101	633101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633101C>A	ENST00000026218.5	+	10	1838	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	584					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGGTGGCACCAGCTCAG	0.637000													6	91					8.12818e-05	8.99451e-05	1	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88940264	88940264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88940264G>A	ENST00000375961.2	-	12	1988	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R469C|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R592C			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	592	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGGCAATGCGCTTTTTGGGC	0.373000													31	65					0	0	1	0	0
ATP4B	496	broad.mit.edu	37	13	114307678	114307678	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114307678T>C	ENST00000335288.4	-	3	354	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	105					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	TCTGCCCAGGTTCTGTTATCA	0.557000													15	48					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135497	32135497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135497G>T	ENST00000312561.4	+	4	2022	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AGATGACCCAGGCAGTATTGA	0.403000													16	29					0.000308642	0.000336111	1	1	0
ZNF3	7551	broad.mit.edu	37	7	99673193	99673193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99673193G>A	ENST00000303915.6	-	3	1083	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF3_ENST00000424697.1_Missense_Mutation_p.A39V|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39V|ZNF3_ENST00000299667.4_Missense_Mutation_p.A39V			P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A39G(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGCGCAGCCGCCAACATCTC	0.502000													5	45					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153609120	153609120	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153609120A>T	ENST00000369842.4	+	5	695	c.407A>T	c.(406-408)gAt>gTt	p.D136V	EMD_ENST00000369835.3_Missense_Mutation_p.D101V|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	136	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGCATGATGACGATCTT	0.612000													31	69					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912934	55912934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55912934C>T	ENST00000389286.4	-	19	3172	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1042					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATTATAGGACCATAGCTATT	0.323000													14	38					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579906	35579906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35579906C>T	ENST00000453357.2	+	9	1337	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	UNC5D_ENST00000416672.1_Silent_p.V437V|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.V432V|UNC5D_ENST00000420357.1_Silent_p.V365V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	432					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAACAGTCCGTCAAGGTC	0.552000													46	83					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984573	33984573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984573C>T	ENST00000382102.3	-	1	173	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S39N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S39N|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S39N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	39					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATGGCCATGCTGTGCATGAT	0.577000													7	17					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972475	92972475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92972475G>A	ENST00000523629.1	-	12	2264	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	604					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542000													6	8					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412178	40412178	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40412178C>T	ENST00000221347.6	-	7	3457	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGGACAGCGGGCAGCCGT	0.622000													19	31					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33262607	33262607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33262607G>A	ENST00000315596.10	+	13	1556	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	457					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGTTGAACGGATCTTTGCT	0.313000													31	44					0	0	1	0	0
CD164	8763	broad.mit.edu	37	6	109700818	109700818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109700818C>T	ENST00000368961.5	-	2	403	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CD164_ENST00000324953.5_Missense_Mutation_p.V75I|CD164_ENST00000413644.2_Missense_Mutation_p.V75I|CD164_ENST00000512821.1_Missense_Mutation_p.V75I|CD164_ENST00000504373.1_Missense_Mutation_p.V41I|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000275080.7_Missense_Mutation_p.V75I|CD164_ENST00000310786.4_Missense_Mutation_p.V75I			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	75					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTATTAACAACGCTAACATTA	0.353000													20	60					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250939	36250939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36250939G>T	ENST00000315571.5	+	6	1051	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E295*|LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E334*	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	344						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGGCACTGAAGAAGTATAAGT	0.552000													33	53					7.11191e-15	9.09819e-15	1	1	0
VPS25	84313	broad.mit.edu	37	17	40928262	40928262	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40928262G>T	ENST00000253794.2	+	5	382		c.e5-1			NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTATTCACAGGTTTCCAGGA	0.463000													4	42					1.23904e-05	1.39987e-05	1	1	0
TSPAN32	10077	broad.mit.edu	37	11	2324157	2324157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2324157G>T	ENST00000182290.4	+	2	287	c.150G>T	c.(148-150)gaG>gaT	p.E50D	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.E39D|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E50D	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	50					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTGGAGAAGAACCCGT	0.642000													8	41					0.00621372	0.00652201	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62202148	62202148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62202148G>A	ENST00000467148.1	-	2	421	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCCTGCGTGCGCCGGACCCAC	0.697000													3	11					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17164793	17164793	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17164793C>T	ENST00000377833.4	-	6	659		c.e6+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAAAGTTACCTGTAACTTC	0.363000													12	9					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474999	5474999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5474999T>C	ENST00000341449.2	+	1	362	c.281T>C	c.(280-282)tTt>tCt	p.F94S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACATCACTTTTGATGCCTGT	0.468000													4	104					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420081	10420081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10420081G>A	ENST00000397077.1	-	9	1496	c.921C>T	c.(919-921)gaC>gaT	p.D307D	ATP2B2_ENST00000383800.4_Silent_p.D307D|ATP2B2_ENST00000360273.2_Silent_p.D352D|ATP2B2_ENST00000343816.4_Silent_p.D338D|ATP2B2_ENST00000352432.4_Silent_p.D352D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	352					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.D307D(1)|p.D352D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCTGCCCCGTCCTGTTGTT	0.622000													17	44					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616085	8616085	+	Splice_Site	SNP	G	G	T	rs139636384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8616085G>T	ENST00000429646.2	+	7	2980		c.e7-1		CPZ_ENST00000360986.4_Splice_Site|CPZ_ENST00000382480.2_Splice_Site|CPZ_ENST00000315782.6_Splice_Site			Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCCACAGGCATGTCCGA	0.627000													6	35					8.28177e-16	1.06505e-15	1	1	0
AKTIP	64400	broad.mit.edu	37	16	53532473	53532473	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53532473G>A	ENST00000300245.4	-	4	295	c.78C>T	c.(76-78)gaC>gaT	p.D26D	AKTIP_ENST00000570004.1_Silent_p.D26D|AKTIP_ENST00000394657.6_Silent_p.D26D			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	26					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TGGTTTTCACGTCCCCTGTTA	0.418000													42	51					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39078452	39078452	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39078452A>G	ENST00000591517.1	-	32	2528	c.2500T>C	c.(2500-2502)Tag>Cag	p.*834Q	MAP4K1_ENST00000589130.1_Missense_Mutation_p.V797A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.V375A|MAP4K1_ENST00000396857.2_Missense_Mutation_p.V801A	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	0					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCACCACTACAGGCCTGTG	0.473000													3	36					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975279	20975279	+	Silent	SNP	C	C	T	rs148736888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975279C>T	ENST00000261383.3	-	53	9926	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3309					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCAGGTCCGAGATACAAA	0.498000													32	55					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32927435G>A	ENST00000383763.4	+	3	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	344					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498000													18	24					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868797	58868797	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868797C>A	ENST00000311044.3	-	3	393	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	ZNF497_ENST00000425453.3_Missense_Mutation_p.G69C|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCCGGGGCCTCCCTGTTCG	0.746000													3	6					0.004672	0.0049138	1	1	0
HTT	3064	broad.mit.edu	37	4	3237092	3237092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3237092C>T	ENST00000355072.5	+	62	8683	c.8538C>T	c.(8536-8538)gaC>gaT	p.D2846D	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2846					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCCTCTGGACGTAGGGCCGG	0.532000													24	34					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68695879	68695879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68695879C>T	ENST00000509734.1	+	16	2287	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	RAD17_ENST00000282891.6_Missense_Mutation_p.R440W|RAD17_ENST00000305138.4_Missense_Mutation_p.R526W|RAD17_ENST00000354312.3_Missense_Mutation_p.R526W|RAD17_ENST00000358030.2_Missense_Mutation_p.R361W|RAD17_ENST00000380774.3_Missense_Mutation_p.R537W|RAD17_ENST00000361732.2_Missense_Mutation_p.R526W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.R361W|RAD17_ENST00000345306.6_Missense_Mutation_p.R526W|RAD17_ENST00000354868.5_Missense_Mutation_p.R526W			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	537	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATACAGTATCGGGAAAATTG	0.328000								Other conserved DNA damage response genes					13	27					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70416789	70416789	+	Silent	SNP	G	G	A	rs143187183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70416789G>A	ENST00000393640.4	-	5	2905	c.798C>T	c.(796-798)caC>caT	p.H266H	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.H266H			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	266					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552000													8	16					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77438524	77438524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77438524A>G	ENST00000322886.7	-	6	1116	c.881T>C	c.(880-882)tTt>tCt	p.F294S	E2F7_ENST00000416496.2_Missense_Mutation_p.F294S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	294					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGCATGACAAACTTCTGGCT	0.398000													54	59					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75231047	75231047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75231047G>A	ENST00000244869.2	+	1	188	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	8					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GAGGAGGATGGAGATGCTCTG	0.692000													7	17					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073305	184073305	+	Nonsense_Mutation	SNP	C	C	A	rs146097084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184073305C>A	ENST00000265593.4	-	12	1354	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Nonsense_Mutation_p.E351*|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.E395*|CLCN2_ENST00000423355.2_Nonsense_Mutation_p.E36*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.E395*	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	395						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCAGCGTCTCTTTCTGTGAG	0.612000													12	51					0.000978159	0.00105116	1	1	0
SLC35D1	23169	broad.mit.edu	37	1	67474798	67474798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67474798G>A	ENST00000235345.5	-	11	1014	c.929C>T	c.(928-930)aCg>aTg	p.T310M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T231M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	310					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTTTGTCCACGTGAAAATATA	0.249000													6	16					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813864	50813864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50813864C>T	ENST00000540145.1	+	9	1842	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	CYLD_ENST00000564326.1_Missense_Mutation_p.A473V|CYLD_ENST00000566206.1_Missense_Mutation_p.A473V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000398568.2_Missense_Mutation_p.A473V|CYLD_ENST00000311559.9_Missense_Mutation_p.A476V|CYLD_ENST00000569418.1_Missense_Mutation_p.A473V|CYLD_ENST00000427738.3_Missense_Mutation_p.A476V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	476	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTCATTGGCTGAAGTTAAG	0.512000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				26	38					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847558	96847558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847558G>T	ENST00000375360.3	+	3	448	c.108G>T	c.(106-108)aaG>aaT	p.K36N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.K88N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	36							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAACACCAAAGTACACAAAAG	0.433000													16	38					4.96729e-08	5.9048e-08	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603454	138603454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603454C>A	ENST00000440172.1	-	2	966	c.918G>T	c.(916-918)gaG>gaT	p.E306D	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E306D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E256D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	306						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGTGAGACCTCCCCCAAGG	0.512000			O	BRAF	pilocytic astrocytoma								11	88					9.70103e-10	1.18443e-09	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32871622	32871622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32871622C>T	ENST00000452533.2	+	7	829	c.665C>T	c.(664-666)gCg>gTg	p.A222V	DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000549701.1_Missense_Mutation_p.A222V|DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	222	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383000													51	87					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019676	131019676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131019676C>A	ENST00000421699.2	-	25	2778	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	922						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCCAAGTTCCTGGGGGGCTG	0.667000													14	13					1.49906e-05	1.69169e-05	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092394	151092394	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092394G>T	ENST00000370340.3	+	3	525	c.258G>T	c.(256-258)gaG>gaT	p.E86D	MAGEA4_ENST00000276344.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E86D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E86D			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	86							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAATGAGGGTTCCAGCA	0.572000													5	75					5.9392e-07	6.91975e-07	1	1	0
LAMC2	3918	broad.mit.edu	37	1	183206503	183206503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183206503G>T	ENST00000264144.4	+	18	2683	c.2618G>T	c.(2617-2619)aGg>aTg	p.R873M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R873M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	873	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAAGCAAAGAGGATCAAACAA	0.468000													13	15					0.000219431	0.000240782	1	1	0
SPTLC3	55304	broad.mit.edu	37	20	13098296	13098296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13098296C>T	ENST00000399002.2	+	8	1350	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	359					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACTAGACCCTCATGAAGTT	0.502000													33	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414088	179414088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179414088G>A	ENST00000589042.1	-	339	92489	c.92265C>T	c.(92263-92265)atC>atT	p.I30755I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I21690I|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Silent_p.I28187I|TTN_ENST00000359218.5_Silent_p.I21815I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I21882I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I29114I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29114							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTCAAGGATATACTGTT	0.443000													25	64					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667814	117667814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117667814C>T	ENST00000321322.6	-	1	162	c.161G>A	c.(160-162)aGa>aAa	p.R54K		NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCCTATTCTCCGGGGAGG	0.692000													8	6					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86909576	86909576	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86909576C>A	ENST00000370565.4	+	10	1757	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	532					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACGTGGCAGGCCAGTGGTCCT	0.393000													52	122					2.52991e-16	3.26504e-16	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72828427	72828427	+	Silent	SNP	C	C	T	rs150499144	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72828427C>T	ENST00000268489.5	-	9	8826	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A	ZFHX3_ENST00000397992.5_Silent_p.A1804A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2718					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTGAAGAGCGCTCTGCAAA	0.557000													30	53					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	C	T	rs121909301		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41803250C>T	ENST00000196371.5	-	10	1131	c.971G>A	c.(970-972)gGa>gAa	p.G324E	OXCT1_ENST00000509987.1_Missense_Mutation_p.G138E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353000													30	66					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40060989	40060989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40060989G>A	ENST00000352035.2	-	10	1188	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	ACLY_ENST00000590151.1_Missense_Mutation_p.T353M|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.T353M|ACLY_ENST00000353196.1_Missense_Mutation_p.T353M	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	353					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACCTTGAACGTGGCAGCCAC	0.493000													17	23					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355251	42355251	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42355251C>T	ENST00000373003.1	-	1	387	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GTSF1L_ENST00000373005.2_Silent_p.S28S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	28							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCCTGCACGATGCCAGGT	0.498000													42	92					0	0	1	0	0
IFRG15	0	broad.mit.edu	37	1	179834104	179834104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179834104G>A	ENST00000553856.1	-	1	207	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					GCCCACTCAAGTGGGAAAGAC	0.443000													26	140					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042963	34042963	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34042963G>A	ENST00000373381.4	-	49	7685	c.7509C>T	c.(7507-7509)agC>agT	p.S2503S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2505	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGGCCATGCTGTGTCCCA	0.637000													22	45					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508613	43508613	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43508613A>T	ENST00000395891.1	+	16	3613	c.3008A>T	c.(3007-3009)aAc>aTc	p.N1003I	HECW1_ENST00000453890.1_Missense_Mutation_p.N969I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1003					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACCAGCACAACCGGGACTTG	0.532000													66	31					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340153	29340153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29340153A>G	ENST00000269205.5	-	1	690	c.502T>C	c.(502-504)Tat>Cat	p.Y168H	SLC25A52_ENST00000579441.2_Missense_Mutation_p.Y158H	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	158					transport	integral to membrane|mitochondrial inner membrane											AAAGCCTGATAAGTGTTGGTA	0.433000													7	158					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533810	31533810	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31533810A>T	ENST00000215885.3	-	4	1204	c.952T>A	c.(952-954)Tcc>Acc	p.S318T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	318					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCGCTTGGACCCTTTCTGA	0.672000													56	99					0	0	1	0	0
EZH2	0	broad.mit.edu	37	7	148506461	148506461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148506461C>T	ENST00000320356.2	-	18	2172	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	EZH2_ENST00000541220.1_Missense_Mutation_p.R628H|EZH2_ENST00000350995.2_Missense_Mutation_p.R640H|EZH2_ENST00000478654.1_Missense_Mutation_p.R628H|EZH2_ENST00000460911.1_Missense_Mutation_p.R679H|EZH2_ENST00000476773.1_Missense_Mutation_p.R628H|EZH2_ENST00000483967.1_Missense_Mutation_p.R670H	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	679	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R684H(1)|p.R640H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTACCCTTGCGGGTTGCATC	0.358000			Mis		DLBCL								40	124					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300674	103300674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103300674G>A	ENST00000233969.2	+	5	1446	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	435						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGCCTATGGAGGACTTCGA	0.448000													45	95					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227071420	227071420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227071420C>T	ENST00000366782.1	+	5	755	c.255C>T	c.(253-255)aaC>aaT	p.N85N	PSEN2_ENST00000422240.2_Silent_p.N52N|PSEN2_ENST00000391872.2_Silent_p.N85N|PSEN2_ENST00000366783.3_Silent_p.N52N|PSEN2_ENST00000340188.4_Silent_p.N52N			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	52					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCCAGGAGAACGAGGAGGACG	0.592000													9	17					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103015035	103015035	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103015035T>C	ENST00000306312.3	-	20	2307	c.2046A>G	c.(2044-2046)caA>caG	p.Q682Q	SLC26A5_ENST00000354356.4_Silent_p.Q115Q|SLC26A5_ENST00000393723.1_Silent_p.Q652Q|SLC26A5_ENST00000432958.2_Silent_p.Q650Q|SLC26A5_ENST00000393727.1_Silent_p.Q684Q|SLC26A5_ENST00000393729.1_Silent_p.Q645Q|SLC26A5_ENST00000393730.1_Silent_p.Q650Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	682	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATTCACAACTTGTGCTATTA	0.353000													3	74					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822999	19822999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822999T>C	ENST00000344099.3	-	4	1229	c.1091A>G	c.(1090-1092)gAa>gGa	p.E364G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCGTTTACATTCATATGGTTT	0.388000													27	47					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1795747	1795747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1795747G>A	ENST00000399161.2	-	25	4200	c.3453C>T	c.(3451-3453)taC>taT	p.Y1151Y	MYT1L_ENST00000407844.1_Silent_p.Y149Y|MYT1L_ENST00000428368.2_Silent_p.Y1149Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1151					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGTAGTCACGTAAGCATCAA	0.308000													11	13					0	0	1	0	0
MIR1283-1	0	broad.mit.edu	37	19	54191763	54191763	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54191763G>A	ENST00000408494.1	+	0	29					NR_031573.1																						AAAGGAAAGCGCTTTCTGTTG	0.408000													4	85					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24616068	24616068	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24616068A>T	ENST00000327365.4	-	12	2047	c.1631T>A	c.(1630-1632)cTc>cAc	p.L544H	GGT5_ENST00000398292.3_Missense_Mutation_p.L545H|GGT5_ENST00000263112.7_Missense_Mutation_p.L512H|GGT5_ENST00000418439.2_Missense_Mutation_p.L468H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	544					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ACGGTCTTGGAGTCCCCTCTG	0.617000													11	23					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.825_splice	c.e8+1	p.A275_splice	C20orf96_ENST00000382369.5_Splice_Site_p.A240_splice|C20orf96_ENST00000400269.3_Splice_Site_p.A217_splice	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572000													81	118					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26582625	26582625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26582625C>T	ENST00000436318.2	-	4	1206	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	MUC15_ENST00000529533.1_Missense_Mutation_p.R358H|MUC15_ENST00000455601.2_Missense_Mutation_p.R331H|MUC15_ENST00000281268.8_Missense_Mutation_p.R308H|MUC15_ENST00000527569.1_Missense_Mutation_p.R308H|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	331						extracellular region|integral to membrane|plasma membrane		p.R331H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACAGAAGTACGAAGTGGAGG	0.378000													32	54					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78202306	78202306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78202306G>A	ENST00000261531.7	-	7	744	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P228S|SNW1_ENST00000554775.1_Missense_Mutation_p.P66S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	228	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGCATGACAGGCGCAGGAGGA	0.388000													8	16					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122812815	122812815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122812815G>A	ENST00000358808.2	-	15	3147	c.2993C>T	c.(2992-2994)tCg>tTg	p.S998L	CLIP1_ENST00000361654.4_Missense_Mutation_p.S887L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S963L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S584L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1009L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S998L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1009					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TACCAGGTCCGACAATTTCCT	0.478000													162	251					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26755303	26755303	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26755303C>A	ENST00000381340.3	-	28	4094	c.3678_splice	c.e28+1	p.K1226_splice		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1226					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGACTAACCTTTTCATAGG	0.328000													9	80					2.17888e-05	2.45068e-05	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98834390	98834390	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98834390A>C	ENST00000477737.1	+	14	2122	c.1918A>C	c.(1918-1920)Att>Ctt	p.I640L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	640	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGATGAGATTGCAAACAG	0.403000													3	51					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831966	34831966	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34831966T>G	ENST00000192788.5	+	15	3574	c.3403T>G	c.(3403-3405)Ttg>Gtg	p.L1135V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1135V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1135										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGATGCTCTTGGAGTCTGG	0.507000													5	69					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356285	42356285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356285G>A	ENST00000554171.1	+	5	2889	c.457G>A	c.(457-459)Gat>Aat	p.D153N	LRFN5_ENST00000298119.4_Missense_Mutation_p.D153N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D153N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	153						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGGAGCTGGATCTGTCCTA	0.393000										HNSCC(30;0.082)			9	51					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128147787	128147787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128147787C>T	ENST00000284694.7	-	6	1840		c.e6-1		C10orf90_ENST00000454341.1_Splice_Site|C10orf90_ENST00000480379.1_Splice_Site|C10orf90_ENST00000544758.1_Splice_Site|C10orf90_ENST00000356858.3_Splice_Site	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTGCTTCCTATGCAAAGC	0.483000													9	63					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147416	62147416	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62147416A>C	ENST00000416284.3	-	4	1955	c.371T>G	c.(370-372)gTc>gGc	p.V124G	FAM19A2_ENST00000550003.1_Missense_Mutation_p.V27G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.V124G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	124						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AGTTGTTTTGACTTTATTCCC	0.433000													25	42					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108917675	108917675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108917675C>A	ENST00000340800.2	-	10	1585	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G320*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.G361*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	361					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTACAGTCTCCTTTGCTTCCT	0.308000													5	41					0.217242	0.218821	1	1	0
TRIP11	9321	broad.mit.edu	37	14	92471958	92471958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92471958C>T	ENST00000267622.4	-	11	2735	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	788					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTTATGGTCAGTATCCATT	0.318000			T	PDGFRB	AML								50	112					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466478	74466478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74466478C>T	ENST00000394019.2	-	21	2700	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R704H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R768H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R768H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	768						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAAATAGCGGCTGAATTT	0.522000													15	23					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045228	80045228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045228G>A	ENST00000306749.2	-	20	3414	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1066					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGTGTGTACAGCTTCTGCCTG	0.662000													6	29					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111806	57111806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57111806C>T	ENST00000454682.1	-	3	3789	c.3508G>A	c.(3508-3510)Ggg>Agg	p.G1170R	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTGGGGGCCCCTTTTGGGGGT	0.622000			T	BCL6	NHL								38	65					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52137116	52137116	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52137116T>C	ENST00000596288.1	-	12	1972	c.1945A>G	c.(1945-1947)Agc>Ggc	p.S649G	MCM3_ENST00000229854.7_Missense_Mutation_p.S604G|MCM3_ENST00000419835.2_Missense_Mutation_p.S558G	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	604					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTGTCTGAGCTCATGCTATCC	0.567000													10	64					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70187441	70187441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70187441G>T	ENST00000288050.4	+	18	3157	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	PDPR_ENST00000542659.1_Nonsense_Mutation_p.E79*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.E634*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.E92*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.E734*|PDPR_ENST00000562100.1_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	734					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CACGCCCCTGGAATGTGGACG	0.488000													6	18					0.00116845	0.00124821	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36397121	36397121	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36397121T>G	ENST00000317020.6	-	2	404	c.104A>C	c.(103-105)aAa>aCa	p.K35T	KIAA0895_ENST00000440378.1_Missense_Mutation_p.K35T|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K73T|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000297063.6_Missense_Mutation_p.K86T|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K73T|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000480192.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	86	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGCTTCTTTTGTTGTCAAT	0.368000													5	60					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082240	38082240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38082240C>T	ENST00000356545.2	-	5	989	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RSPO1_ENST00000373059.1_Missense_Mutation_p.D41N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D68N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	68					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCGGATGTCGTTCCTCTCC	0.617000													33	48					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50688893	50688893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50688893G>A	ENST00000216271.5	-	3	606	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000349505.4_Missense_Mutation_p.A85V|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A85V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	85	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGACAGCGCCTGCAGCTC	0.617000													22	37					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53561480	53561480	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53561480A>C	ENST00000342160.3	-	81	13285	c.12828T>G	c.(12826-12828)atT>atG	p.I4276M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4276M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4276	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCACCTGAATAGAGTTGG	0.463000													16	50					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173378897G>A	ENST00000265085.5	+	8	3190	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	579							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428000													11	25					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201342573	201342573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201342573C>T	ENST00000409988.3	+	13	2019	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	SPATS2L_ENST00000360760.5_Missense_Mutation_p.P430L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.P507L|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000358677.4_Missense_Mutation_p.P499L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.P499L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.P499L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.P439L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.P529L	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	499						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATGAAGACCCCCGAGGCCCCG	0.617000													3	1					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201838754	201838754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201838754A>G	ENST00000361565.4	+	17	2110	c.2041A>G	c.(2041-2043)Aca>Gca	p.T681A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	681					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTACGAAATACAAAGCCTCC	0.483000													38	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347559	113347559	+	Splice_Site	SNP	G	G	A	rs61754528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113347559G>A	ENST00000297405.5	-	45	7408	c.7165_splice	c.e45+1	p.H2388_splice	CSMD3_ENST00000352409.3_Splice_Site_p.H2318_splice|CSMD3_ENST00000343508.3_Splice_Site_p.H2348_splice|CSMD3_ENST00000455883.2_Splice_Site_p.H2284_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	34					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177275	7177275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177275G>T	ENST00000406697.1	+	15	2015	c.1387G>T	c.(1387-1389)Gcg>Tcg	p.A463S	C1S_ENST00000402681.3_Missense_Mutation_p.A296S|C1S_ENST00000328916.3_Missense_Mutation_p.A463S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A463S			P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGTGGAGCGCTCATTAA	0.493000													12	32					2.80697e-09	3.39963e-09	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67039765	67039765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67039765G>A	ENST00000340001.4	-	6	876	c.665C>T	c.(664-666)gCa>gTa	p.A222V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A222V|ABCA9_ENST00000370732.2_Missense_Mutation_p.A222V|ABCA9_ENST00000495634.1_Missense_Mutation_p.A222V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	222					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAATCAGTTGCAACTCCTCC	0.328000													25	42					0	0	1	0	0
PMS2CL	0	broad.mit.edu	37	7	6776853	6776853	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6776853G>T	ENST00000486256.1	+	0	980					NR_002217.1																						TCACACAACAGAGAACAAGCC	0.483000													4	44					0.184627	0.186383	1	1	0
RAI1	10743	broad.mit.edu	37	17	17696880	17696880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696880T>C	ENST00000353383.1	+	3	1087	c.618T>C	c.(616-618)ggT>ggC	p.G206G	RAI1_ENST00000261641.6_Silent_p.G206G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	206	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCCCCCAGGGTACCCACTTTC	0.632000													25	47					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154548311	154548311	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154548311T>C	ENST00000368476.3	+	6	1676	c.1412T>C	c.(1411-1413)gTc>gCc	p.V471A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	471					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TTTGTCTGTGTCTTTGGCACC	0.577000													3	104					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209106	45209106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45209106C>A	ENST00000587331.1	+	5	1123	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.S303Y	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	303										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACCCTGCTATCTGGATCTGCC	0.587000													28	60					4.74835e-14	6.04786e-14	1	1	0
SOX7	83595	broad.mit.edu	37	8	10583430	10583430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583430G>A	ENST00000304501.1	-	2	1063	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SOX7_ENST00000553390.1_Missense_Mutation_p.R381C|SOX7_ENST00000554914.1_Missense_Mutation_p.R381C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	329	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATTCATTGCGATCCATGTCC	0.627000													15	24					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206296	41206296	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41206296C>T	ENST00000324464.3	-	11	1255	c.954G>A	c.(952-954)acG>acA	p.T318T	ADCK4_ENST00000450541.1_Silent_p.T277T|ADCK4_ENST00000243583.6_Silent_p.T277T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	318	Protein kinase.		T -> M (in dbSNP:rs55899516).			integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCCGTGTCGTGCACAGCT	0.642000													15	13					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017652	1017652	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1017652T>C	ENST00000421673.2	-	31	5199	c.5149A>G	c.(5149-5151)Aac>Gac	p.N1717D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1717	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTGGGGTTGGGGGTGATG	0.517000													16	817					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43667331	43667331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43667331G>A	ENST00000593152.2	-	7	1316	c.777C>T	c.(775-777)atC>atT	p.I259I	ATP5A1_ENST00000282050.2_Silent_p.I309I|ATP5A1_ENST00000398752.6_Silent_p.I309I|ATP5A1_ENST00000590665.1_Silent_p.I287I	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	309					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CGTCATAGATGATCAAAGCAT	0.398000													43	55					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059271	248059271	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059271A>T	ENST00000537741.1	+	3	640	c.383A>T	c.(382-384)aAg>aTg	p.K128M	OR2W3_ENST00000360358.3_Missense_Mutation_p.K128M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATCTGCAAGCCCCTGCAC	0.607000													23	36					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33800180	33800180	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33800180G>A	ENST00000261326.5	+	9	1981	c.1960_splice	c.e9+1	p.G654_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	654					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAAAGCCAAAGGTGGGAAAAC	0.478000													15	37					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751365	19751365	+	Missense_Mutation	SNP	G	G	A	rs139914455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19751365G>A	ENST00000400113.3	-	4	862	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGAATTCCGTCAAGTCCAC	0.617000													9	76					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69652787	69652787	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69652787A>G	ENST00000453994.2	+	16	2078	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A	GDPD2_ENST00000538649.1_Missense_Mutation_p.T443A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.T522A|GDPD2_ENST00000536730.1_Missense_Mutation_p.T443A	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	522					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGGGAAAACTGGTAAGAA	0.527000													10	22					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167510	8167510	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167510C>T	ENST00000402384.3	-	13	1589	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	ICA1_ENST00000265577.7_Silent_p.S440S|ICA1_ENST00000401396.1_Silent_p.S429S|ICA1_ENST00000406470.2_Silent_p.S441S|ICA1_ENST00000422063.2_Silent_p.S470S|ICA1_ENST00000396675.3_Silent_p.S441S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	441					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TACCTTGTAGCGAGGCCTGTA	0.438000													39	142					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964541	166964541	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964541C>T	ENST00000061240.2	+	12	2141	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	TLL1_ENST00000507499.1_Silent_p.Y498Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	498	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGAGAGCTACCACGTCGGGC	0.418000													56	86					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197021347	197021347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197021347T>C	ENST00000263955.4	-	3	437	c.151A>G	c.(151-153)Ata>Gta	p.I51V	STK17B_ENST00000409228.1_Missense_Mutation_p.I51V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	51	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GATTTTGATATACATTGTCTA	0.353000													45	61					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050155	47050155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47050155A>G	ENST00000450053.3	+	52	8203	c.8024A>G	c.(8023-8025)aAc>aGc	p.N2675S	NBEAL2_ENST00000383740.2_Missense_Mutation_p.N924S|NBEAL2_ENST00000292309.5_Missense_Mutation_p.N2491S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2675							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTCCAACTAAACACGTAAGCC	0.572000													11	17					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966538	132966538	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132966538G>T	ENST00000275216.1	-	1	604	c.605C>A	c.(604-606)cCt>cAt	p.P202H		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	202						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATAGATCCAGGTATATAAAA	0.348000													4	83					0.00024832	0.0002712	1	1	0
ACOT11	26027	broad.mit.edu	37	1	55069583	55069583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55069583C>A	ENST00000371316.3	+	11	1207	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L375L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	375	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGCCCCTCTCCGTCCCCT	0.587000													7	93					0.00198382	0.00210581	1	1	0
EMX2	2018	broad.mit.edu	37	10	119303166	119303166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119303166C>A	ENST00000553456.3	+	1	1212	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	EMX2_ENST00000442245.4_Missense_Mutation_p.L130M|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	130						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTACCGATATCTGGGTCATCG	0.682000													17	31					0.0496948	0.050769	1	1	0
TEX10	54881	broad.mit.edu	37	9	103109555	103109555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109555G>A	ENST00000374902.4	-	3	490	c.314C>T	c.(313-315)gCt>gTt	p.A105V	TEX10_ENST00000537512.1_Missense_Mutation_p.A40V|TEX10_ENST00000535814.1_Missense_Mutation_p.A108V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	105						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAAACACAGCAGTCACTTC	0.368000													19	191					0	0	1	0	0
C6orf70	0	broad.mit.edu	37	6	170159127	170159127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170159127C>T	ENST00000588451.1	+	6	706	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	C6orf70_ENST00000418781.3_Missense_Mutation_p.H191Y|C6orf70_ENST00000392095.4_Missense_Mutation_p.H65Y|C6orf70_ENST00000366772.2_Missense_Mutation_p.H191Y|C6orf70_ENST00000366773.3_Missense_Mutation_p.H191Y			Q5T6L9	CF070_HUMAN		191						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CGTCTTATGGCATGGGTTTGC	0.373000													41	60					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46125390	46125390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46125390G>A	ENST00000252934.5	+	7	1079	c.814G>A	c.(814-816)Gct>Act	p.A272T	ATXN10_ENST00000381061.4_Missense_Mutation_p.A208T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	272					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTGCGGCATGCTGAGTTGAT	0.478000													27	66					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111583019	111583019	+	Missense_Mutation	SNP	G	G	A	rs142089853	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111583019G>A	ENST00000304987.3	+	9	1359	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	396					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCATCCAACGTGGAGGCCTT	0.542000													4	59					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152470620	152470620	+	Missense_Mutation	SNP	G	G	A	rs139885317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152470620G>A	ENST00000367255.5	-	136	25235	c.24634C>T	c.(24634-24636)Cgc>Tgc	p.R8212C	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7824C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8212C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2736C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R367C|SYNE1_ENST00000354674.4_Missense_Mutation_p.R367C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8141C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGGCAGGCGGATCAGTTTC	0.468000										HNSCC(10;0.0054)			28	25					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48577345	48577345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48577345C>T	ENST00000396577.3	+	21	2743	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A843V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A843V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	843					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCATTGGAAGCGACTATCAAA	0.378000													4	87					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89628995	89628995	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89628995G>A	ENST00000345097.4	-	7	1352	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	FOXN3_ENST00000555353.1_Silent_p.S390S|FOXN3_ENST00000261302.5_Silent_p.S412S|FOXN3_ENST00000557258.1_Silent_p.S390S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	412					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGCGTACCCGCTGTCCCCCA	0.637000													4	69					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11854429	11854429	+	Missense_Mutation	SNP	G	G	A	rs138469955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854429G>A	ENST00000376592.1	-	7	1461	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	MTHFR_ENST00000376583.3_Missense_Mutation_p.R486W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R486W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R445W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	445					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGACCATTCCGGTTTGGTTCT	0.587000													17	40					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11861426	11861426	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11861426A>G	ENST00000396516.2	-	12	1566	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	ZC3H7A_ENST00000355758.4_Silent_p.L457L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	457						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATCCATTAACTTAGGGCCT	0.294000													6	73					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15668485	15668485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15668485G>T	ENST00000281171.4	+	8	1848	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	PTPRO_ENST00000543886.1_Missense_Mutation_p.Q506H|PTPRO_ENST00000348962.2_Missense_Mutation_p.Q506H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	506	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCAGTACCAGGTTGTAATAT	0.413000													9	83					5.4927e-09	6.6252e-09	1	1	0
AMPD1	270	broad.mit.edu	37	1	115222982	115222982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115222982G>A	ENST00000369538.3	-	5	799	c.752C>T	c.(751-753)gCa>gTa	p.A251V	AMPD1_ENST00000520113.2_Missense_Mutation_p.A255V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A222V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTGACTGCTGCTTCATTAGG	0.443000													18	159					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459213	47459213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459213T>C	ENST00000265565.5	-	17	2963	c.2551A>G	c.(2551-2553)Agc>Ggc	p.S851G	SCAP_ENST00000545718.1_Missense_Mutation_p.S458G|SCAP_ENST00000441517.2_Missense_Mutation_p.S595G	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	851	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGGAGGGCTGTCCCCAGGC	0.662000													9	9					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515147	98515147	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515147T>C	ENST00000359863.4	+	20	2676	c.2467T>C	c.(2467-2469)Tac>Cac	p.Y823H	TRRAP_ENST00000355540.3_Missense_Mutation_p.Y823H|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y822H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	823					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTTTGCCGTACCTGCCCAT	0.567000													4	92					0	0	1	0	0
RDH13	112724	broad.mit.edu	37	19	55556517	55556517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55556517C>A	ENST00000396247.3	-	8	1180	c.708G>T	c.(706-708)cgG>cgT	p.R236R	RDH13_ENST00000415061.3_Silent_p.R307R|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	307							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCCAAAGCCTCCGGGCCACCT	0.622000													5	43					0.014758	0.0152625	1	1	0
RAB2A	5862	broad.mit.edu	37	8	61533300	61533300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61533300G>A	ENST00000262646.7	+	8	962	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RAB2A_ENST00000531289.1_Missense_Mutation_p.G180E|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D167N	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	204					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AATCAGGGAGGACAGCAGGCT	0.493000													14	31					0	0	1	0	0
ARL4D	379	broad.mit.edu	37	17	41477481	41477481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41477481C>T	ENST00000320033.4	+	2	588	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	127					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAACCAGGGCGTGCCAGTGC	0.657000													5	13					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186329083	186329083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329083T>C	ENST00000367478.3	-	12	1533	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	413					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTCTAGTTTCTCCAAAAGC	0.363000			T	NTRK1	papillary thyroid								24	41					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16688338	16688338	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16688338G>A	ENST00000263390.3	-	3	565	c.303C>T	c.(301-303)acC>acT	p.T101T	CTD-3222D19.2_ENST00000409035.1_Silent_p.T109T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	101					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGCAGAGCCGGTGGCCCCCG	0.706000													7	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460073	141460073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460073G>A	ENST00000389484.3	-	38	7044	c.6073C>T	c.(6073-6075)Cgc>Tgc	p.R2025C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408000										TSP Lung(27;0.18)			27	42					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315727	50315727	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50315727C>T	ENST00000332853.3	-	2	392	c.369G>A	c.(367-369)ggG>ggA	p.G123G	VSTM4_ENST00000298454.3_Silent_p.G123G	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	123	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGACGTAATGCCCTTGATCGG	0.627000													16	53					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353256	133353256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133353256G>A	ENST00000204726.3	-	21	4500	c.3942C>T	c.(3940-3942)ggC>ggT	p.G1314G	GOLGA3_ENST00000450791.2_Silent_p.G1314G|GOLGA3_ENST00000456883.2_Silent_p.G1314G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1314	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTCCTTCCTGCCCTGCTGCT	0.562000													4	74					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347678	65347678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65347678G>A	ENST00000309295.4	+	5	704	c.439G>A	c.(439-441)Gct>Act	p.A147T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGTGCAGGCTGAGCTGAG	0.667000													10	29					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761125	155761125	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155761125G>A	ENST00000159060.2	-	6	735	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	211	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAAAGAAGACGATGAAAACAT	0.463000													17	24					0	0	1	0	0
TNFSF12-TNFSF13	0	broad.mit.edu	37	17	7460102	7460102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7460102C>T	ENST00000293826.4	+	6	436	c.381C>T	c.(379-381)gaC>gaT	p.D127D	TNFSF12_ENST00000293825.6_Silent_p.D127D|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000557233.1_Silent_p.D127D	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		127					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CAGGTGTGGACGGGACAGTGA	0.577000													17	15					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471830	103471830	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103471830T>A	ENST00000358392.2	-	16	2078	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	COL11A1_ENST00000512756.1_Missense_Mutation_p.K459N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K575N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.K536N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	575	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTCCAGGTTTTCCCGTTG	0.338000													5	95					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635217	100635217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100635217A>G	ENST00000376335.3	+	1	1192	c.899A>G	c.(898-900)cAc>cGc	p.H300R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	300					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAGCAACCACGTCTGCTTC	0.587000													34	43					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064462	158064462	+	Missense_Mutation	SNP	G	G	A	rs147886424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158064462G>A	ENST00000368172.1	+	11	1280	c.1268G>A	c.(1267-1269)cGt>cAt	p.R423H	KIRREL_ENST00000360089.4_Missense_Mutation_p.R445H|KIRREL_ENST00000359209.6_Missense_Mutation_p.R609H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R509H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R506H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R625H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	609	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACAACGTGCGTGCCCATGAA	0.622000													18	30					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559476	9559476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9559476C>T	ENST00000400556.3	-	14	2042	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	PPP4R1_ENST00000400555.3_Missense_Mutation_p.G640R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	657					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCTGTCTTCCGAGTGTCAAG	0.483000													101	142					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253802	44253802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44253802C>T	ENST00000371505.4	-	3	867	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	TCTE1_ENST00000371503.3_Missense_Mutation_p.V96I|TCTE1_ENST00000371504.1_Missense_Mutation_p.V96I|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	249										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTCCTTGACATCGTACACC	0.587000													9	94					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87024485	87024485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:87024485C>T	ENST00000340353.7	+	10	1091	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TMEM135_ENST00000532959.1_Missense_Mutation_p.R190C|TMEM135_ENST00000305494.5_Missense_Mutation_p.R319C|TMEM135_ENST00000535167.1_Missense_Mutation_p.R180C	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	319						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTTCCTGCGCTGGATCAG	0.294000													5	108					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351031	131351031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131351031G>A	ENST00000342983.2	-	2	1012	c.266C>T	c.(265-267)tCt>tTt	p.S89F	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S89F	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	89					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TACCTGAAAAGACTGTTGATT	0.458000													37	66					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436143	82436143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82436143C>T	ENST00000370728.1	+	18	3512	c.2867C>T	c.(2866-2868)gCt>gTt	p.A956V	LPHN2_ENST00000370727.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370715.1_Missense_Mutation_p.A943V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A943V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A956V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A943V|LPHN2_ENST00000370725.1_Missense_Mutation_p.A956V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A943V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A956V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.A956V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A956V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A881V|LPHN2_ENST00000370723.1_Missense_Mutation_p.A943V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A943V			O95490	LPHN2_HUMAN	latrophilin 2	956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACTATGTTGCTGGTTACTTG	0.398000													68	40					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43800057	43800057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43800057G>A	ENST00000403856.1	-	13	1951	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	THADA_ENST00000405006.4_Nonsense_Mutation_p.R602*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R312*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R602*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R602*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R312*|THADA_ENST00000404790.1_Nonsense_Mutation_p.R602*			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	602							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTAGCTATTCGCAGACATGCC	0.458000													22	31					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3128322	3128322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3128322C>T	ENST00000359864.2	+	8	759	c.569C>T	c.(568-570)cCg>cTg	p.P190L	TEAD4_ENST00000397122.2_Missense_Mutation_p.P61L|TEAD4_ENST00000358409.2_Missense_Mutation_p.P147L	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCCAGCCTCCGCTGCCTCTG	0.682000													25	49					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141719014	141719014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141719014C>T	ENST00000475668.2	+	4	397	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	MGAM_ENST00000549489.2_Missense_Mutation_p.R115C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGTGACCAACGTGGCTGTTG	0.433000													6	152					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889947	30889947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30889947C>A	ENST00000321897.5	+	19	2493	c.1861C>A	c.(1861-1863)Ctt>Att	p.L621I	VARS2_ENST00000416670.2_Missense_Mutation_p.L621I|VARS2_ENST00000541562.1_Missense_Mutation_p.L651I|VARS2_ENST00000542001.1_Missense_Mutation_p.L481I|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	621					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGCAGCGACCTTCTGCTGTT	0.622000													17	126					2.35188e-11	2.93101e-11	1	1	0
ADH6	130	broad.mit.edu	37	4	100131373	100131373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131373T>A	ENST00000394897.1	-	5	515	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	ADH6_ENST00000394899.2_Missense_Mutation_p.S145C|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.S145C|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	145					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAGAAGGTGCTGGTATTACCA	0.398000													6	72					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57850573	57850573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57850573G>A	ENST00000383718.3	+	11	1273	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	SLMAP_ENST00000428312.1_Missense_Mutation_p.C392Y|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000295951.3_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	392					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTAAAGAATGCAGCAGCTTG	0.308000													4	7					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725518	30725518	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:30725518G>T	ENST00000361762.2	+	1	3482	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G825V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	825	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AATGACAGTGGGCAGCCTTCC	0.473000													6	19					0.00116845	0.00124821	1	1	0
KRT73	319101	broad.mit.edu	37	12	53005048	53005048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53005048G>A	ENST00000305748.3	-	6	1084	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	350	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I350I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527000													25	49					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848933	61848933	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:61848933A>C	ENST00000403491.3	+	7	1455	c.971A>C	c.(970-972)aAg>aCg	p.K324T	NFIA_ENST00000371184.2_Missense_Mutation_p.K195T|NFIA_ENST00000371189.4_Missense_Mutation_p.K369T|NFIA_ENST00000407417.3_Missense_Mutation_p.K316T|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.K347T|NFIA_ENST00000371185.2_Missense_Mutation_p.K302T|NFIA_ENST00000371187.3_Missense_Mutation_p.K324T|NFIA_ENST00000479364.1_3'UTR	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	324					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCACACTGAAGAAGTCGGAG	0.483000													35	80					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817433	77817433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77817433G>A	ENST00000334306.2	-	1	1569	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	524																	GGTGGGCGCCGACTTCTTTTC	0.547000													20	21					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171330140	171330140	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171330140A>G	ENST00000356327.5	-	24	2767	c.2697T>C	c.(2695-2697)gtT>gtC	p.V899V	PLD1_ENST00000340989.4_Silent_p.V937V|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Silent_p.V937V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	937	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTGAAGGAACAGTCTCTG	0.498000													3	46					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378537	19378537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19378537C>T	ENST00000550708.1	+	1	1016	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAAGGCAGCCCTGAGGAAA	0.393000													36	69					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038962C>T	ENST00000470054.1	-	0	1241									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGATGACTCTGTCTCAGAT	0.413000													31	467					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550817	4550817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4550817C>T	ENST00000586582.1	-	11	1425	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R372Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R372Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	372	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGGGTCGAGGCACCTG	0.627000													19	30					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351009	65351009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65351009G>A	ENST00000309295.4	+	9	3131	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	956										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGCCCAGGAAGCAGAGAT	0.542000													11	25					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022650	6022650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022650G>A	ENST00000378858.4	-	5	1465	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	414						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TATCGTGCGAGAGCCCACGTT	0.672000													21	31					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57894828	57894828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57894828C>A	ENST00000295951.3	+	17	2765	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A	SLMAP_ENST00000428312.1_Silent_p.A533A|SLMAP_ENST00000416870.1_Silent_p.A26A|SLMAP_ENST00000449503.2_Silent_p.A495A|SLMAP_ENST00000295952.3_Silent_p.A516A|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Silent_p.A26A|SLMAP_ENST00000495364.1_Silent_p.A67A|SLMAP_ENST00000472546.1_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	533					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAAAAGCCTATCGAAATC	0.333000													5	76					0.184627	0.186383	1	1	0
TULP3	7289	broad.mit.edu	37	12	3047393	3047393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3047393C>T	ENST00000448120.2	+	10	1188	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TULP3_ENST00000397132.2_Silent_p.F379F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	379					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCTCAACTTCCGTGGCCGGG	0.532000													27	38					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67176496	67176496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67176496G>A	ENST00000526387.1	+	8	729	c.691G>A	c.(691-693)Gct>Act	p.A231T	TBC1D10C_ENST00000312390.5_Silent_p.A295A|TBC1D10C_ENST00000542590.1_Silent_p.A295A	NM_001256508.1	NP_001243437.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	31	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGCCTGGCGCTGGGCACTG	0.692000													3	3					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092891	51092891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51092891G>A	ENST00000395542.2	-	14	4113	c.3929C>T	c.(3928-3930)aCg>aTg	p.T1310M	COBL_ENST00000265136.7_Missense_Mutation_p.T1228M			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1228										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAGGGTGCCCGTGCTGAACCT	0.637000													4	68					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98383045	98383045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98383045G>T	ENST00000186436.5	-	34	4697	c.4469C>A	c.(4468-4470)aCt>aAt	p.T1490N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGGAGTATATGGTAG	0.383000													11	123					4.36969e-10	5.35656e-10	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98524833	98524833	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98524833T>C	ENST00000359863.4	+	23	3228	c.3019T>C	c.(3019-3021)Tac>Cac	p.Y1007H	TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1007H|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1006H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1007					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCACATCGCTACAAAGCCCA	0.542000													8	63					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126173388	126173388	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173388G>T	ENST00000339582.2	-	9	2856	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	GRM8_ENST00000444921.2_Missense_Mutation_p.S683Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S683Y|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	683					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTGTGACAGATTTCTTCCC	0.502000										HNSCC(24;0.065)			27	52					6.38683e-12	7.9998e-12	1	1	0
CD300C	10871	broad.mit.edu	37	17	72540830	72540830	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72540830G>A	ENST00000330793.1	-	2	678	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	106	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGTAGGTGCCTGCGTCCT	0.572000													23	39					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70842480	70842480	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70842480G>T	ENST00000256366.4	-	3	291	c.210C>A	c.(208-210)ggC>ggA	p.G70G	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TTAGGTCTTGGCCATTTACCT	0.413000													34	66					7.11191e-15	9.09819e-15	1	1	0
ABCG1	9619	broad.mit.edu	37	21	43711733	43711733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43711733C>T	ENST00000398437.1	+	14	2242	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	ABCG1_ENST00000398449.3_Silent_p.G540G|ABCG1_ENST00000347800.2_Silent_p.G537G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.G542G|ABCG1_ENST00000361802.2_Silent_p.G552G|ABCG1_ENST00000343687.3_Silent_p.G551G|ABCG1_ENST00000340588.4_Silent_p.G660G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	552					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCCCTGGGCCTGCTGATCG	0.667000													10	20					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62303918	62303918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62303918G>A	ENST00000318100.4	+	9	1536	c.709G>A	c.(709-711)Gca>Aca	p.A237T	RTEL1_ENST00000508582.2_Missense_Mutation_p.A261T|RTEL1_ENST00000360203.5_Missense_Mutation_p.A237T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A237T|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A237T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	237	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCCGCAGAGCACACAACAT	0.562000													3	4					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153941611	153941611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153941611G>T	ENST00000369575.3	-	3	495	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S156Y	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	155										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCAAAGAGGAGCTGGC	0.527000													16	119					5.35267e-07	6.25286e-07	1	1	0
VWA9	81556	broad.mit.edu	37	15	65890791	65890791	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65890791C>A	ENST00000395644.4	-	6	951	c.616G>T	c.(616-618)Gat>Tat	p.D206Y	VWA9_ENST00000420799.2_Missense_Mutation_p.D149Y|VWA9_ENST00000431261.2_Missense_Mutation_p.D127Y|VWA9_ENST00000313182.2_Missense_Mutation_p.D206Y|VWA9_ENST00000567744.1_Missense_Mutation_p.D242Y|VWA9_ENST00000442903.3_Missense_Mutation_p.D170Y|VWA9_ENST00000569491.1_Missense_Mutation_p.D157Y					von Willebrand factor A domain containing 9																		TATGCCAAATCTATCAGTTTT	0.378000													4	45					0.00909568	0.00947522	1	1	0
NUDC	10726	broad.mit.edu	37	1	27269425	27269425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269425C>T	ENST00000321265.5	+	6	733	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	204	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGACATCCAGCGGCGGCACCT	0.592000													8	34					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721922	26721922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26721922C>T	ENST00000380573.3	-	2	1588	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	ADRA1A_ENST00000358857.5_Missense_Mutation_p.A189T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A189T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A189T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	189					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGCCCAGCGCTGAGAAGAGC	0.637000													4	17					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78365512	78365512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365512A>G	ENST00000238561.5	+	6	751	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ADCK1_ENST00000341211.5_Missense_Mutation_p.K150E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	225	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGAAGCCAAGAAGAACCTGCC	0.498000													8	74					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197106830	197106830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197106830C>T	ENST00000260983.2	-	20	3810	c.3628G>A	c.(3628-3630)Gga>Aga	p.G1210R	HECW2_ENST00000409111.1_Missense_Mutation_p.G854R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCTTGTCCATATCCTTTA	0.478000													55	122					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185234927	185234927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185234927C>A	ENST00000296252.4	-	7	1051	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	LIPH_ENST00000424591.2_Missense_Mutation_p.D270Y	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	304					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTAGATGGTCTTTCCAATTA	0.378000													39	82					8.69298e-16	1.1177e-15	1	1	0
SNRK	54861	broad.mit.edu	37	3	43389476	43389476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389476C>T	ENST00000296088.7	+	7	2029	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	SNRK_ENST00000454177.1_Silent_p.G575G|SNRK_ENST00000437827.1_Silent_p.G369G|SNRK_ENST00000429705.2_Silent_p.G575G	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	575					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCCCCCTGGCAGTGAGGGGG	0.632000													5	52					0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793446	175793446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793446C>T	ENST00000310389.5	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	83							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGTGCTGGTGCTGGGGCTGGA	0.697000													6	12					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100057992	100057992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100057992C>T	ENST00000394140.3	+	2	160	c.69C>T	c.(67-69)cgC>cgT	p.R23R		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	23	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGTCACTCGCGCTTGTAGCT	0.483000													48	152					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111695589	111695589	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695589A>T	ENST00000435970.1	-	15	4551	c.3735T>A	c.(3733-3735)gtT>gtA	p.V1245V	REV3L_ENST00000368805.1_Silent_p.V1323V|REV3L_ENST00000358835.3_Silent_p.V1323V|REV3L_ENST00000368802.3_Silent_p.V1323V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1323					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGAATTACAAACAACTGATG	0.353000								DNA polymerases (catalytic subunits)					5	124					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40141510	40141510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141510G>A	ENST00000373233.3	-	5	1004	c.827C>T	c.(826-828)gCc>gTc	p.A276V	CHD6_ENST00000373222.3_Missense_Mutation_p.A311V|CHD6_ENST00000309279.7_Missense_Mutation_p.A276V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	276					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGTGTAGAGGCTGAGAGTGC	0.502000													67	129					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I363I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512000													21	32					0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85868167	85868167	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85868167C>A	ENST00000323701.6	+	10	1363	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	USP39_ENST00000409470.1_Silent_p.I451I|USP39_ENST00000409766.3_Silent_p.I451I|USP39_ENST00000409025.1_Silent_p.I451I|USP39_ENST00000450066.2_Silent_p.I348I|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	451					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATATCTAATCTTTTGTATCA	0.353000													25	37					3.1745e-13	4.02314e-13	1	1	0
TTC17	55761	broad.mit.edu	37	11	43465045	43465045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43465045C>T	ENST00000039989.4	+	17	2436	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TTC17_ENST00000299240.6_Missense_Mutation_p.R865W|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	808							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAAGGAATACGGGTGCTGAA	0.498000													25	40					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27933542	27933542	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27933542C>T	ENST00000381271.2	+	1	590	c.279C>T	c.(277-279)gaC>gaT	p.D93D	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		TGGACGAGGACGAGGAGATGG	0.716000													10	15					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724722	67724722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724722G>A	ENST00000347310.5	+	11	1972	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	IL23R_ENST00000395227.1_Missense_Mutation_p.V346M|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	601					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTGGGGATCGTGAATGAGGA	0.403000													26	60					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067996	49067996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067996T>C	ENST00000262013.7	-	20	2640	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	SPAG9_ENST00000505279.1_Missense_Mutation_p.D801G|SPAG9_ENST00000510283.1_Missense_Mutation_p.D654G|SPAG9_ENST00000357122.4_Missense_Mutation_p.D797G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	811					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTGAAAGATCTTCTCCTGC	0.388000													11	72					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983167	140983167	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140983167G>A	ENST00000298296.1	+	5	1022	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S93N|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	341	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGGAAGCGTCTTAGAC	0.582000													43	75					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510998	4510998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510998C>T	ENST00000301286.3	-	3	2931	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	978	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTTGGTACCCATAAGCACA	0.617000													10	19					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43339373	43339373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43339373A>G	ENST00000290650.4	-	14	1732	c.1654T>C	c.(1654-1656)Tgg>Cgg	p.W552R	UBR1_ENST00000382177.2_Missense_Mutation_p.W552R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	552					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAGCACACCACTCTTGGAAC	0.373000													7	182					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183368322C>T	ENST00000454652.1	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C|KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	60						axon|cytoplasm|perikaryon		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413000													47	83					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11066886	11066886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11066886C>T	ENST00000409790.1	+	7	926	c.696C>T	c.(694-696)atC>atT	p.I232I	CLEC16A_ENST00000409552.3_Silent_p.I230I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	232										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCATGTGATCGAACTCGATG	0.483000													11	8					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150921061	150921061	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921061C>A	ENST00000287844.2	-	4	616	c.507G>T	c.(505-507)cgG>cgT	p.R169R	ABCF2_ENST00000222388.2_Silent_p.R169R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	169	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCATGGCCCGCTCTGTGT	0.597000													5	70					0.00116845	0.00124821	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6031520	6031520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6031520C>T	ENST00000378858.4	-	3	989	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	255						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCTGCTGCAGGTTGGGGG	0.547000													29	44					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57432321G>T	ENST00000442789.2	-	18	1922	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.S383S|MYO1A_ENST00000300119.3_Silent_p.S545S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532000													15	48					7.93312e-07	9.21973e-07	1	1	0
TRIM69	0	broad.mit.edu	37	15	45059499	45059499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45059499C>T	ENST00000558173.1	+	5	5165	c.420C>T	c.(418-420)agC>agT	p.S140S	TRIM69_ENST00000329464.4_Silent_p.S344S|TRIM69_ENST00000561043.1_Silent_p.S107S|TRIM69_ENST00000558329.1_Silent_p.S123S|TRIM69_ENST00000560442.1_Silent_p.S140S|TRIM69_ENST00000338264.4_Silent_p.S185S|TRIM69_ENST00000559390.1_Silent_p.S344S			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	344	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCCAAACCAGCGTCTGGCATG	0.468000													44	58					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305720	39305720	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39305720G>A	ENST00000343246.4	-	1	334	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	105	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggacacacagcagctggggc	0.662000													10	27					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450485	85450485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450485A>G	ENST00000393217.2	+	8	1975	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	638										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTATTCAAAATCCAAAGAAA	0.299000													19	26					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155463420	155463420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155463420C>T	ENST00000499023.2	-	8	732	c.606G>A	c.(604-606)ggG>ggA	p.G202G	PLRG1_ENST00000393905.2_Silent_p.G202G|PLRG1_ENST00000302078.5_Silent_p.G193G	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	202						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.G202G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCAAGATGCCCACTGATAA	0.413000													21	26					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755144	1755144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1755144G>A	ENST00000397196.2	+	5	1038	c.806G>A	c.(805-807)cGc>cAc	p.R269H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R269H|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.R269H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	269					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCAACAGCCGCTTCACCCAG	0.706000													8	15					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242328	87242328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242328G>A	ENST00000297524.3	-	1	282	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A60V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	60						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGATGTCATGGCCAGTATGGC	0.483000													6	50					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67273863	67273863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67273863C>T	ENST00000392676.3	-	19	2577	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ABCA5_ENST00000588877.1_Missense_Mutation_p.S838N|ABCA5_ENST00000392677.2_Missense_Mutation_p.S838N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	838					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTCCAAAGGCTCATGGTGCT	0.373000													23	38					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224949	43224949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224949G>T	ENST00000236040.4	-	3	771	c.731C>A	c.(730-732)gCc>gAc	p.A244D	LEPRE1_ENST00000296388.5_Missense_Mutation_p.A244D|LEPRE1_ENST00000397054.3_Missense_Mutation_p.A244D	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	244					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCGCAGAGGGCACGGCACTC	0.577000													26	41					1.77063e-15	2.27219e-15	1	1	0
SHKBP1	92799	broad.mit.edu	37	19	41095083	41095083	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41095083C>T	ENST00000291842.5	+	15	1637	c.1589_splice	c.e15+1	p.R530_splice	SHKBP1_ENST00000600733.1_Splice_Site_p.R505_splice|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	530						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617000													8	11					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764615	89764615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764615G>A	ENST00000289805.5	-	3	470	c.402C>T	c.(400-402)agC>agT	p.S134S	SPATA2L_ENST00000335360.7_Silent_p.S134S	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	134										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGAGCCGATGGCTGTCTCTGC	0.647000													33	100					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396309	139396309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139396309C>T	ENST00000277541.6	-	30	5604	c.5529G>A	c.(5527-5529)tgG>tgA	p.W1843*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1843					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.W1844*(1)|p.W1843*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGCTGAGTCCACTGCCGGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	18					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132155	57132155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57132155G>A	ENST00000296318.7	-	12	1664	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	IL17RD_ENST00000427856.2_Nonsense_Mutation_p.R502*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.R382*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.R382*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	526						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGCCCTGTCGCGTGTGCTGC	0.577000													16	18					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70275272	70275272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70275272G>A	ENST00000346329.3	+	13	1340	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	CTTN_ENST00000376561.3_Silent_p.R344R|CTTN_ENST00000538675.1_Silent_p.R65R|CTTN_ENST00000301843.8_Silent_p.R381R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	381						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAGGAGCGGCAGGAGCAGG	0.627000													5	28					0	0	1	0	0
COMMD9	29099	broad.mit.edu	37	11	36296317	36296317	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36296317T>G	ENST00000263401.5	-	6	478	c.462A>C	c.(460-462)caA>caC	p.Q154H	COMMD9_ENST00000532705.1_Silent_p.R143R|COMMD9_ENST00000452374.2_Missense_Mutation_p.Q112H	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	154	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGGATCTTCTTGGATCTGAA	0.537000													8	63					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44831893	44831893	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44831893T>G	ENST00000354340.4	-	4	2468	c.2417A>C	c.(2416-2418)aAg>aCg	p.K806T	ZNF112_ENST00000536500.1_Missense_Mutation_p.K829T|ZNF112_ENST00000337401.4_Missense_Mutation_p.K812T	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACTGAAACCCTTACCACACTG	0.468000													5	109					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39306959	39306959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39306959C>A	ENST00000541347.1	-	2	1281	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CX3CR1_ENST00000542107.1_Missense_Mutation_p.D348Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D348Y|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D380Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	348					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCATCTCCATCACTCGTGTGG	0.483000													65	126					7.48145e-19	9.77562e-19	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52569224	52569224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569224G>T	ENST00000389534.4	-	7	2370	c.1911C>A	c.(1909-1911)taC>taA	p.Y637*	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y637*|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Nonsense_Mutation_p.Y521*	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTAGGCATGAGTAGTAACTGA	0.433000													13	143					3.27435e-08	3.90559e-08	1	1	0
PCDHGB7	0	broad.mit.edu	37	5	140798177	140798177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140798177C>A	ENST00000398594.2	+	1	751	c.751C>A	c.(751-753)Ctt>Att	p.L251I	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTTAGCCTTCGGGAAGA	0.547000													28	30					1.80694e-10	2.22694e-10	1	1	0
CASD1	64921	broad.mit.edu	37	7	94157499	94157499	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94157499G>T	ENST00000297273.4	+	5	683		c.e5-1			NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTCTTTTAGGATTTTCTGT	0.289000													7	113					0.000673444	0.000724755	1	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584261	138584261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138584261G>A	ENST00000251691.4	+	12	1807	c.1641G>A	c.(1639-1641)acG>acA	p.T547T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	547					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTAAGGAGACGCTGAGCAAAG	0.542000													6	22					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553826	140553826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		470	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642000													25	55					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56369066G>A	ENST00000301295.6	+	3	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_ENST00000346986.5_Missense_Mutation_p.A103T|NLRP4_ENST00000587891.1_Missense_Mutation_p.A28T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428000													24	21					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368419	37368419	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37368419T>G	ENST00000529555.1	+	2	1475	c.687T>G	c.(685-687)ccT>ccG	p.P229P	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.P229P|ZNF345_ENST00000589046.1_Silent_p.P229P|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	229					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCTTATGAATGCA	0.418000													28	46					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132038596	132038596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132038596C>A	ENST00000378746.4	-	11	1765	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	KIF3A_ENST00000378735.1_Missense_Mutation_p.R519I|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R543I	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	516					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAGTTCTCTGCGAAGTTG	0.383000													16	224					5.3912e-06	6.15692e-06	1	1	0
MASP1	5648	broad.mit.edu	37	3	186953538	186953538	+	Silent	SNP	G	G	A	rs144758799		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186953538G>A	ENST00000296280.6	-	11	2346	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y	MASP1_ENST00000392472.2_Silent_p.Y594Y|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	687					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCCAGTCCACGTAATTGGAGA	0.597000													5	37					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127390345	127390345	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127390345C>T	ENST00000342480.6	+	7	1533	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	498					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCAGCGACTACGGCACGCTCT	0.627000													27	43					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273958	44273958	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44273958C>A	ENST00000262888.3	-	5	1238	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	281					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCACGGCCACCAGCAGGGCTG	0.592000													23	45					1.9806e-07	2.3338e-07	1	1	0
PTX4	390667	broad.mit.edu	37	16	1537523	1537523	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537523T>C	ENST00000447419.2	-	2	615	c.590A>G	c.(589-591)gAg>gGg	p.E197G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.E192G			Q96A99	PTX4_HUMAN	pentraxin 4, long	197						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCCAGCTCCTCAGGCTGGGT	0.731000													10	10					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47422624	47422624	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47422624G>T	ENST00000377045.4	+	3	290		c.e3-1		ARAF_ENST00000377039.2_Splice_Site|ARAF_ENST00000290277.6_Splice_Site	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CATACACACAGGTGACTGTCC	0.547000											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					5.18039e-06	5.91835e-06	1	1	0
SESTD1	91404	broad.mit.edu	37	2	180008500	180008500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180008500C>T	ENST00000428443.3	-	9	984	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTAAATCGACGCTGCTGTAA	0.378000													28	53					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142004838	142004838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:142004838G>A	ENST00000389484.3	-	5	1520	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	183	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTAGGTAGCCTTCCACAC	0.378000										TSP Lung(27;0.18)			8	87					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109084772	109084772	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109084772G>A	ENST00000379951.2	-	3	1554	c.366C>T	c.(364-366)aaC>aaT	p.N122N	LEF1_ENST00000510624.1_Silent_p.N54N|LEF1_ENST00000512172.1_Silent_p.N54N|LEF1_ENST00000438313.2_Silent_p.N122N|LEF1_ENST00000265165.1_Silent_p.N122N	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	122	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGTATGGGTCGTTATTCATAT	0.428000													41	60					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031096	21031096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031096G>T	ENST00000247986.2	-	5	1277	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	KIF17_ENST00000375044.1_Missense_Mutation_p.L223I|KIF17_ENST00000400463.3_Missense_Mutation_p.L323I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	323					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCGTGCTGAGTGTCTCATCG	0.617000													7	48					0.0581538	0.0593651	1	1	0
BAG1	573	broad.mit.edu	37	9	33256830	33256830	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33256830A>C	ENST00000472232.3	-	5	940	c.854T>G	c.(853-855)tTt>tGt	p.F285C	BAG1_ENST00000379704.2_Missense_Mutation_p.F170C|BAG1_ENST00000467389.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	285	BAG.|Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GATCTTCATAAACTGCTCTAT	0.393000													28	38					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115962043	115962043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115962043G>A	ENST00000251864.2	+	6	835	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TDRD1_ENST00000369282.1_Missense_Mutation_p.E228K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E228K|TDRD1_ENST00000369280.1_Missense_Mutation_p.E228K|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGGATGTGGAGGTAAACAA	0.274000													15	23					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127466839	127466839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466839G>A	ENST00000262461.2	+	5	1318	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	377					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTTGCCAACGCTGTTGCAGT	0.398000													11	147					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899590	155899590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155899590C>A	ENST00000368320.3	-	3	322	c.297G>T	c.(295-297)aaG>aaT	p.K99N	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K99N			Q7Z7F0	K0907_HUMAN	KIAA0907	99										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGGTCATCCTTGCTTTTAT	0.393000													6	57					0.0381472	0.0390147	1	1	0
ERICH1	157697	broad.mit.edu	37	8	618675	618675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:618675G>A	ENST00000262109.7	-	5	1258	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	ERICH1_ENST00000522706.1_Missense_Mutation_p.T300M	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	394										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GAGCAGCAGCGTTTTCATGTG	0.537000													24	39					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76488801	76488801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76488801G>A	ENST00000389840.5	-	42	6537	c.6413C>T	c.(6412-6414)cCg>cTg	p.P2138L	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2147L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGCGACCGGCTTCCTCTT	0.577000													8	4					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128413872	128413872	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128413872A>G	ENST00000249389.2	-	4	757	c.758T>C	c.(757-759)gTg>gCg	p.V253A		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	253					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCTACCATCACAACCACCAT	0.577000													9	29					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851752	47851752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851752C>T	ENST00000359568.5	+	38	8481	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2792			Q -> R (in dbSNP:rs2073376).		cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCTCTGCTGCAGAAGCTGAA	0.612000													16	11					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089826	73089826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089826C>T	ENST00000450736.2	+	2	510	c.95C>T	c.(94-96)aCg>aTg	p.T32M	SLC16A5_ENST00000580123.1_Missense_Mutation_p.T32M|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.T32M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T72M			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	32					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGCTTCCCCACGTGTATCGGC	0.627000													5	70					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132892264	132892264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132892264G>A	ENST00000275198.1	+	1	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	268						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TAGCATTTATGATTTCATGGT	0.418000													23	43					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80873696	80873696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80873696G>A	ENST00000533983.1	+	18	2175	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	ARNT2_ENST00000527771.1_Silent_p.S612S|ARNT2_ENST00000303329.4_Silent_p.S623S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	623					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTACCTCCTCGCCAAGTGGGA	0.577000													24	42					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977146	107977146	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977146G>T	ENST00000372129.2	-	1	2505	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	810						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGGTAGAGAGAAGTAGGA	0.493000													20	282					2.4624e-09	2.98951e-09	1	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2421892	2421892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2421892G>A	ENST00000332578.3	+	13	2093	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCTGGCGTGTTTTAT	0.617000													26	54					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426280	132426280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132426280G>A	ENST00000542167.2	+	4	1582	c.829G>A	c.(829-831)Gga>Aga	p.G277R	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.G330R|PUS1_ENST00000443358.2_Missense_Mutation_p.G302R|PUS1_ENST00000440818.2_Missense_Mutation_p.G302R			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	330						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CAAGGCGCCCGGACTCGGCCT	0.647000													37	40					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185327117	185327117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185327117C>A	ENST00000296257.5	+	7	941	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SENP2_ENST00000545472.1_Missense_Mutation_p.P224H|SENP2_ENST00000427465.2_Missense_Mutation_p.P58H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	234					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTGTCTGTCCTGTAACTTCA	0.378000													8	68					0.0477658	0.0488009	1	1	0
ADRM1	11047	broad.mit.edu	37	20	60881369	60881369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60881369G>A	ENST00000253003.2	+	4	493	c.447G>A	c.(445-447)gcG>gcA	p.A149A	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	149	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AACTCTCTGCGCTAGGCGGTA	0.597000													12	112					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93999628	93999628	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93999628G>T	ENST00000412050.4	-	2	568	c.480C>A	c.(478-480)acC>acA	p.T160T	CPEB3_ENST00000265997.4_Silent_p.T160T	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	160	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGTGCTGGGTCTGCGCCA	0.711000													6	10					0.000157383	0.00017284	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44802511	44802511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802511G>A	ENST00000309315.4	+	12	1751	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	543					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGCACCGCCCATCCGTC	0.637000													70	268					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585588	32585588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32585588C>T	ENST00000341377.5	+	6	1141	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRG1_ENST00000520502.2_Silent_p.Y263Y|NRG1_ENST00000287840.5_Silent_p.Y208Y|NRG1_ENST00000539990.1_Silent_p.Y54Y|NRG1_ENST00000519301.1_Silent_p.Y153Y|NRG1_ENST00000287845.5_Silent_p.Y174Y|NRG1_ENST00000520407.1_Silent_p.Y389Y|NRG1_ENST00000405005.2_Silent_p.Y208Y|NRG1_ENST00000287842.3_Silent_p.Y208Y|NRG1_ENST00000523079.1_Silent_p.Y208Y|NRG1_ENST00000338921.4_Silent_p.Y208Y|NRG1_ENST00000356819.4_Silent_p.Y208Y|NRG1_ENST00000521670.1_Silent_p.Y208Y			Q02297	NRG1_HUMAN	neuregulin 1	208	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCGAGATACTTGTGCAAGT	0.403000													35	61					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52847358	52847358	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52847358G>T	ENST00000371568.3	-	14	2307	c.2089C>A	c.(2089-2091)Cta>Ata	p.L697I	ORC1_ENST00000371566.1_Missense_Mutation_p.L697I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	697	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGGCCTTTAGATGCTTGAGC	0.512000													22	35					2.21704e-12	2.7869e-12	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287719	46287719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46287719C>T	ENST00000378966.3	+	2	867	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SPERT_ENST00000310521.1_Missense_Mutation_p.R187W			Q8NA61	SPERT_HUMAN	spermatid associated	187						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGAGGAGAACCGGATGCTCAG	0.627000													12	43					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989222	179989222	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179989222G>A	ENST00000367607.3	+	12	2731	c.2313G>A	c.(2311-2313)ttG>ttA	p.L771L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGGAATTTTGCATAAGGATT	0.413000													58	80					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548921	75548921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75548921C>T	ENST00000604729.1	+	3	727	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R144W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R144W					zinc finger, SWIM-type containing 8									p.R144W(4)									CTTCCGCATGCGGGCTGTGAA	0.572000													27	20					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120832515	120832515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120832515C>T	ENST00000369144.3	-	4	555	c.428G>A	c.(427-429)aGa>aAa	p.R143K	EIF3A_ENST00000541549.1_Missense_Mutation_p.R109K|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	143					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TAAAAGTAATCTGTCAGTACG	0.393000													26	32					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64671501	64671501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64671501C>T	ENST00000543942.2	-	9	2019	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	C12orf56_ENST00000333722.5_Missense_Mutation_p.V305M|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	468										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GAATCAGCCACCAACTGGATA	0.368000													8	6					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796895	210796895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210796895G>A	ENST00000367010.1	+	11	1498	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	HHAT_ENST00000545781.1_Missense_Mutation_p.R361H|HHAT_ENST00000413764.2_Missense_Mutation_p.R424H|HHAT_ENST00000541565.1_Missense_Mutation_p.R287H|HHAT_ENST00000537898.1_Missense_Mutation_p.R359H|HHAT_ENST00000308852.6_Missense_Mutation_p.R379H|HHAT_ENST00000545154.1_Missense_Mutation_p.R425H|HHAT_ENST00000367009.1_Missense_Mutation_p.R114H|HHAT_ENST00000261458.3_Missense_Mutation_p.R424H|HHAT_ENST00000391905.3_Missense_Mutation_p.R424H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	424					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCACAAGCTCGCCGTCGATTC	0.512000													98	203					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155311772	155311772	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155311772C>G	ENST00000460012.1	-	4	695	c.338G>C	c.(337-339)aGt>aCt	p.S113T	PLCH1_ENST00000334686.6_Missense_Mutation_p.S113T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S131T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S113T|PLCH1_ENST00000447496.2_Missense_Mutation_p.S131T|PLCH1_ENST00000494598.1_Missense_Mutation_p.S131T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	131	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTTCATCACTGATGCCAGC	0.527000													11	30					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122545775	122545775	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122545775T>G	ENST00000261038.5	+	3	964	c.566T>G	c.(565-567)cTc>cGc	p.L189R		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	189					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATCAATGCTCAGTTATCTT	0.502000													6	108					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30003154	30003154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30003154C>T	ENST00000346128.6	-	24	4727	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	TJP1_ENST00000400011.2_Missense_Mutation_p.R1342H|TJP1_ENST00000545208.2_Missense_Mutation_p.R1338H|TJP1_ENST00000356107.6_Missense_Mutation_p.R1418H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGTTCATAGCGTTTCTCGCC	0.507000													56	91					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51585345	51585345	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51585345A>C	ENST00000452682.1	+	9	1744	c.1492A>C	c.(1492-1494)Att>Ctt	p.I498L	NCOA4_ENST00000443446.1_Missense_Mutation_p.I482L|NCOA4_ENST00000414907.2_Missense_Mutation_p.I316L|NCOA4_ENST00000438493.1_Missense_Mutation_p.I498L|NCOA4_ENST00000344348.6_Missense_Mutation_p.I482L|NCOA4_ENST00000374082.1_Missense_Mutation_p.I482L|NCOA4_ENST00000430396.2_Missense_Mutation_p.I382L|NCOA4_ENST00000374087.4_Missense_Mutation_p.I482L	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	482					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCTTCTAGAATTGCTGATTC	0.448000			T	RET	papillary thyroid								55	146					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886303	33886303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33886303C>A	ENST00000257818.2	-	5	1138	c.309G>T	c.(307-309)caG>caT	p.Q103H	LMO2_ENST00000395833.3_Missense_Mutation_p.Q34H	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	34	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAATGTTCTGCTGGCAGCCGC	0.632000			T	TRD@	T-ALL								14	39					7.93312e-07	9.21973e-07	1	1	0
CORO7-PAM16	0	broad.mit.edu	37	16	4393218	4393218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4393218C>T	ENST00000572467.1	-	28	2915	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	PAM16_ENST00000577031.1_Silent_p.Q26Q|PAM16_ENST00000571941.1_Silent_p.Q46Q|PAM16_ENST00000573553.1_Silent_p.Q46Q|CORO7-PAM16_ENST00000572274.1_Intron|PAM16_ENST00000576217.1_Silent_p.Q26Q|PAM16_ENST00000575848.1_Silent_p.Q38Q|PAM16_ENST00000318059.3_Silent_p.Q26Q	NM_001201479.1	NP_001188408.1																					CTGCAAACTCCTGCCGCAAGG	0.627000													13	24					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18267031	18267031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267031C>A	ENST00000526900.1	-	4	445	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.G88C|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.G88C					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCACCACGGCCTGTGAGTCTC	0.567000													11	27					0.000673444	0.000724755	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139164158	139164158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164158C>A	ENST00000423192.1	+	5	546	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ECT2L_ENST00000541398.1_Missense_Mutation_p.L60M|ECT2L_ENST00000367682.2_Missense_Mutation_p.L129M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	129					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATGGTTTCTGCCCTATAC	0.448000			"""N, Splice, Mis"""		ETP ALL								7	75					0.00448238	0.00472561	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	146997622	146997622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146997622A>G	ENST00000265272.5	-	19	2665	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	733						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTTGATAACAGTTTC	0.408000													29	61					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810384	140810384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810384G>T	ENST00000398940.1	-	5	783	c.784C>A	c.(784-786)Cct>Act	p.P262T	MAML3_ENST00000327122.5_Intron|MAML3_ENST00000509479.2_Intron			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	0					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACTACCTGAGGATGTGTAAAG	0.433000													28	50					1.39806e-14	1.78606e-14	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132218639	132218639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132218639A>G	ENST00000260818.6	+	38	4651	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1468							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACCAAGTGACATGTCAGTA	0.433000													78	172					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713850	19713850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19713850C>A	ENST00000397821.3	-	5	690	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.G97*|SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.G134*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	134	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCACCATCCTTCCTCTACC	0.473000													26	48					1.17739e-12	1.48344e-12	1	1	0
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233986949G>A	ENST00000359570.5	+	3	331	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D111N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	111					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACAGGCGACGACCCTGAGGA	0.567000													12	15					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361936	9361936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9361936C>A	ENST00000456448.1	+	1	331	c.217C>A	c.(217-219)Ctc>Atc	p.L73I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGACTCCCACCTCCACACCCC	0.572000													8	36					2.17888e-05	2.45068e-05	1	1	0
CPA2	1358	broad.mit.edu	37	7	129915044	129915044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129915044G>A	ENST00000222481.4	+	6	597	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	181	Substrate binding (By similarity).				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCCATGCTCGAGAGTGGGTT	0.517000													4	64					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451754	55451754	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55451754T>C	ENST00000446217.1	-	6	919	c.517A>G	c.(517-519)Aat>Gat	p.N173D	NLRP7_ENST00000448121.2_Missense_Mutation_p.N145D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N145D|NLRP7_ENST00000590030.1_Missense_Mutation_p.N145D|NLRP7_ENST00000588756.1_Missense_Mutation_p.N145D|NLRP7_ENST00000340844.2_Missense_Mutation_p.N145D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N145D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	145	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATGGAAATTGTCAATGTCT	0.478000													12	447					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185304249	185304249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185304249C>T	ENST00000296257.5	+	1	288	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	16					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCGTTTCTGCGACCGGTCGG	0.667000													15	129					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	53965633	53965633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53965633G>A	ENST00000338154.6	-	22	3537	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	PHF8_ENST00000357988.5_Silent_p.G1047G|PHF8_ENST00000338946.6_Silent_p.G910G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1047					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCAGGATACGGCCGAGTCTCT	0.527000													22	51					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123789129	123789129	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123789129C>A	ENST00000420886.2	-	28	3767	c.3768_splice	c.e28+1	p.K1256_splice	SBNO1_ENST00000267176.4_Splice_Site_p.K1255_splice|SBNO1_ENST00000602750.1_Splice_Site_p.K1255_splice|SBNO1_ENST00000602398.1_Splice_Site_p.K1256_splice	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1256							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAAAAAATACCTTCTTATATT	0.348000													4	21					0.00909568	0.00947522	1	1	0
TACR2	6865	broad.mit.edu	37	10	71175705	71175705	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71175705G>A	ENST00000373306.4	-	1	918	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	125					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CAGCAATGGCGGTCATGGAGT	0.572000													14	24					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84356049	84356049	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84356049A>G	ENST00000260505.8	-	19	2701	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	775					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACGACTCCAGAGTAAGCGATT	0.373000													5	74					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438000													5	72					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2265508	2265508	+	Silent	SNP	G	G	T	rs148544625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2265508G>T	ENST00000268989.3	+	4	579	c.402G>T	c.(400-402)acG>acT	p.T134T	SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Silent_p.T134T|SGSM2_ENST00000574563.1_Silent_p.T134T	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	134	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGTACGCACGGCGCTCATCG	0.637000													24	52					2.00529e-23	2.65571e-23	1	1	0
CLSPN	63967	broad.mit.edu	37	1	36213593	36213593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36213593C>A	ENST00000251195.5	-	14	2638	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.E795*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.E784*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.E848*			Q9HAW4	CLSPN_HUMAN	claspin	848					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCTTAGGCTCTGGGGAGGCG	0.458000													8	350					5.18039e-06	5.91835e-06	1	1	0
GPR84	0	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756722C>A	ENST00000551809.1	-	1	1549	c.914G>T	c.(913-915)aGa>aTa	p.R305I	GPR84_ENST00000267015.3_Missense_Mutation_p.R305I|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507000													41	80					6.27289e-28	8.37919e-28	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60504004	60504004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60504004C>T	ENST00000311506.5	+	3	583	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCCACCTACCGAATACTGGA	0.408000													9	9					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865567	47865567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47865567G>A	ENST00000396105.1	-	14	4240	c.3994C>T	c.(3994-3996)Cgg>Tgg	p.R1332W	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1332W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1332							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGACACCGGTGCCCTTCC	0.552000													44	45					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5693263	5693263	+	Missense_Mutation	SNP	C	C	T	rs149846489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5693263C>T	ENST00000357700.6	-	3	321	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	99					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TTCACACACTCGATGCTGCCC	0.622000													18	26					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123670	99123670	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99123670C>A	ENST00000394170.2	+	6	1258	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P336H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P336H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GACATCAGCCCTAAGCAAAGC	0.507000													7	55					1.06961e-07	1.26574e-07	1	1	0
MLLT10	8028	broad.mit.edu	37	10	22002827	22002827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22002827C>T	ENST00000377072.3	+	15	2222	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A609V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A609V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A609V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	625	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTAGGAGCGCTCTCTCCC	0.483000			T	"""MLL, PICALM, CDK6"""	AL								6	57					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642898	156642898	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156642898G>T	ENST00000368223.3	-	4	1214	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	361	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTAGCAGGCAAGGGTGA	0.612000													7	75					2.0095e-06	2.31757e-06	1	1	0
XRCC2	7516	broad.mit.edu	37	7	152357857	152357857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152357857C>T	ENST00000359321.1	-	2	135	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	17					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACCTTCAAGTCGGGCAAGGAG	0.308000								Homologous recombination					33	48					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554794	106554794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106554794C>T	ENST00000369096.4	+	7	2145	c.1911C>T	c.(1909-1911)caC>caT	p.H637H	PRDM1_ENST00000369089.3_Silent_p.H503H|PRDM1_ENST00000369091.2_Silent_p.H601H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	637					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTCTGCCACAAGAGATTTA	0.547000			"""D, N, Mis, F, S"""		DLBCL								9	78					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969112	54969112	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54969112G>T	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGCTGCCCCAGGTGCAGGGCA	0.687000													6	49					0.00198382	0.00210581	1	1	0
CSRNP2	81566	broad.mit.edu	37	12	51467694	51467694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51467694C>T	ENST00000228515.1	-	3	620	c.323G>A	c.(322-324)tGt>tAt	p.C108Y		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	108					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCAAACTCACAGAGTGTATA	0.537000													35	48					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15100279	15100279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15100279G>A	ENST00000396410.4	+	6	515	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	PDXDC1_ENST00000535621.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E113K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E49K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E158K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E125K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E112K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	140					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTATTTCCACGAAGAGGAAAG	0.343000													28	162					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277059	95277059	+	Missense_Mutation	SNP	C	C	T	rs143789386	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277059C>T	ENST00000344604.5	-	4	1057	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R281Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGCGGGGATCGAGAGGGCAT	0.612000													16	29					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406145	85406145	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85406145A>G	ENST00000258888.5	+	10	5182	c.5016_splice	c.e10+1	p.Q1672_splice		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1672	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCACCATCCAGGTACTATGT	0.557000													9	53					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131185490	131185490	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131185490T>A	ENST00000372842.1	+	4	3284	c.140T>A	c.(139-141)cTg>cAg	p.L47Q	CERCAM_ENST00000372838.4_Missense_Mutation_p.L125Q			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	125					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGATGGAGCTGAAGCAGGAA	0.547000													47	99					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22162127G>A	ENST00000374695.3	-	76	10438	c.10359C>T	c.(10357-10359)atC>atT	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502000													12	21					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15524688	15524688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15524688G>A	ENST00000338950.5	-	9	985	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	DTNBP1_ENST00000344537.5_Intron|DTNBP1_ENST00000355917.3_Intron|DTNBP1_ENST00000462989.2_Intron	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	0	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGGTTCTCACGTCTCACCTTT	0.567000									Hermansky-Pudlak syndrome				65	131					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193229	152193229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152193229C>T	ENST00000368801.2	-	3	951	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	292					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAAC	0.602000													62	73					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99403289	99403289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99403289A>G	ENST00000305798.3	-	4	719	c.317T>C	c.(316-318)cTc>cCc	p.L106P	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L35P|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	106						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCCGGCAGTGAGCTCCAGGAA	0.363000													5	70					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9775966	9775966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9775966G>A	ENST00000383829.2	+	2	546	c.142G>A	c.(142-144)Gac>Aac	p.D48N	BRPF1_ENST00000433861.2_Missense_Mutation_p.D48N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D48N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D48N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D48N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	48					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTATGACCACGACAACCCACC	0.577000													40	44					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660166	52660166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52660166C>T	ENST00000322146.8	-	5	1291	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.R257Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTGAGCCCCGATGAAAGGC	0.403000													19	25					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060438	111060438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060438G>A	ENST00000369771.2	-	1	1359	c.972C>T	c.(970-972)gtC>gtT	p.V324V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	324						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTGTCTCCTGGACTAGCTCTG	0.527000													5	100					0	0	1	0	0
VDAC2	7417	broad.mit.edu	37	10	76980698	76980698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76980698G>T	ENST00000535553.1	+	8	793	c.437G>T	c.(436-438)aGg>aTg	p.R146M	VDAC2_ENST00000332211.6_Missense_Mutation_p.R185M|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.R185M|VDAC2_ENST00000313132.4_Missense_Mutation_p.R200M			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	185						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGGGCTACAGGACTGGGGAC	0.453000													17	34					4.7546e-09	5.74312e-09	1	1	0
GRHL2	79977	broad.mit.edu	37	8	102661726	102661726	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102661726C>A	ENST00000251808.3	+	14	2035	c.1698_splice	c.e14+1	p.A566_splice	GRHL2_ENST00000395927.1_Splice_Site_p.A550_splice|GRHL2_ENST00000517674.1_Intron	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	566						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGATGGAAGCGGTAAGCCAT	0.507000													10	16					2.17888e-05	2.45068e-05	1	1	0
USP33	23032	broad.mit.edu	37	1	78180376	78180376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78180376C>T	ENST00000370793.1	-	20	2577	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	USP33_ENST00000357428.1_Missense_Mutation_p.R744Q|USP33_ENST00000370792.3_Missense_Mutation_p.R736Q|USP33_ENST00000370794.3_Missense_Mutation_p.R713Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAGCCACTGTCGAGAAATATA	0.373000													37	86					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540252	169540252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540252C>T	ENST00000340806.6	+	1	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGTTTTCCCCCAGGAGCTCT	0.512000													6	69					0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549344	28549344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28549344C>T	ENST00000324873.6	-	2	511	c.245G>A	c.(244-246)cGc>cAc	p.R82H	NUPR1_ENST00000395641.2_Missense_Mutation_p.R100H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	82					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TCTGTCTCAGCGCCGTGCCCC	0.622000													10	196					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30255066	30255066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30255066G>A	ENST00000361644.2	+	5	1762	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	MAGEB3_ENST00000378986.1_Missense_Mutation_p.S342N	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	342										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGGCTAGCAGCTCTTCCCAC	0.498000													7	14					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187329	116187329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116187329A>G	ENST00000288462.4	+	9	1284	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C9orf43_ENST00000374165.1_Missense_Mutation_p.K280E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	280										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAACGTTTGAAGAAATTACA	0.413000													4	62					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48986512	48986512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48986512C>A	ENST00000378434.4	-	7	1672	c.48G>T	c.(46-48)aaG>aaT	p.K16N	LPAR6_ENST00000345941.2_Missense_Mutation_p.K16N|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	16						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACAAAGTGTACTTAAAGGAGT	0.423000													7	53					8.12818e-05	8.99451e-05	1	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629383	56629383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56629383G>T	ENST00000266980.4	+	6	1137	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.E282*	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	282					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGACTACCAGAGAAGGACCT	0.627000													18	219					3.99206e-14	5.08633e-14	1	1	0
LPP	4026	broad.mit.edu	37	3	188592251	188592251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188592251C>T	ENST00000312675.4	+	11	2069	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	LPP_ENST00000543006.1_Missense_Mutation_p.A608V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	608					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGCCAAGGCGAGCACTGAC	0.502000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								23	42					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625589	66625589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625589T>C	ENST00000309602.4	+	1	617	c.374T>C	c.(373-375)cTc>cCc	p.L125P	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.L125P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	125						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCAGCACCTCATCCTCAGC	0.662000													5	55					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958020	51958020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958020C>T	ENST00000321424.3	-	5	1132	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.V247I|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.V263I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	356					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACTTGTGATACAGGTCTTGAG	0.557000													4	49					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057895	221057895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221057895C>T	ENST00000366903.6	+	4	2817	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	HLX_ENST00000549319.1_Missense_Mutation_p.A225V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	439	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ttcagcagcgccagcagtctt	0.662000													5	6					0	0	1	0	0
IGHG1	0	broad.mit.edu	37	14	106207954	106207954	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207954G>A	ENST00000390548.2	-	0	848																											AGGAGCCGTCGGAGTCCAGCA	0.597000													39	110					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924279	105924279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924279G>A	ENST00000393359.2	-	2	906	c.480C>T	c.(478-480)atC>atT	p.I160I	TGFBRAP1_ENST00000258449.1_Silent_p.I160I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	160	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCTTGACGATCTGCACCC	0.552000													78	105					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211990	64211990	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:64211990T>C	ENST00000262150.2	-	6	1218	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CDH19_ENST00000540086.1_Missense_Mutation_p.H309R	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGAGTTTCATGATTAGTAAT	0.303000													9	16					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089462	31089462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089462G>A	ENST00000394979.2	+	1	2240	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K	ZNF646_ENST00000300850.5_Missense_Mutation_p.R606K			O15015	ZN646_HUMAN	zinc finger protein 646	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAAAATAGCAGAACAGAGACC	0.542000													16	30					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88123597	88123597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88123597G>A	ENST00000507897.1	+	4	345	c.262G>A	c.(262-264)Gat>Aat	p.D88N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	88								p.D88N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTCTACTTCGATATGAATTA	0.338000													4	60					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293713	29293713	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29293713T>C	ENST00000331664.5	-	1	3414	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1139					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGGGCTGTTGAGAGTGGC	0.577000													17	29					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230540	60230540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60230540G>T	ENST00000534668.1	+	3	514	c.225G>T	c.(223-225)ggG>ggT	p.G75G	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000389939.2_Silent_p.G75G	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517000													11	133					1.5842e-08	1.90059e-08	1	1	0
DAGLA	747	broad.mit.edu	37	11	61490361	61490361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61490361T>C	ENST00000257215.5	+	4	454	c.338T>C	c.(337-339)aTc>aCc	p.I113T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	113					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATCTACGCCATCGTGGGCATC	0.602000													5	86					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12701657	12701657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12701657C>A	ENST00000380682.1	+	6	1030	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	175					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGTCCAATCCTGTCAAAGTA	0.413000													26	32					1.32181e-22	1.74568e-22	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108618605	108618605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108618605G>A	ENST00000332082.4	+	6	1590	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	WSCD2_ENST00000261400.3_Missense_Mutation_p.V258M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V258M|WSCD2_ENST00000549903.1_Missense_Mutation_p.V258M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	258	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACATGTCTGTGGACAAATG	0.587000													6	63					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53007958	53007958	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53007958G>T	ENST00000421239.2	+	5	358	c.114G>T	c.(112-114)tgG>tgT	p.W38C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGCAGAGTGGAAATTCCTGA	0.458000													54	97					2.76378e-25	3.67279e-25	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40400646	40400646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40400646G>A	ENST00000338305.6	-	2	749	c.207C>T	c.(205-207)cgC>cgT	p.R69R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	69						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGTCCTGGCGGCTGATGT	0.612000													20	27					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17505504	17505504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17505504G>A	ENST00000377873.3	-	2	466	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BFSP1_ENST00000544874.1_Missense_Mutation_p.R4W|BFSP1_ENST00000536626.1_Missense_Mutation_p.R4W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R18W|BFSP1_ENST00000473415.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	143	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGTTAAGCCGTTCAAGCATT	0.423000													46	77					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101560197	101560197	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101560197C>A	ENST00000370449.4	+	9	1199	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	362	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTGGATATCTCTGTGCAATCC	0.448000													96	204					1.43697e-34	1.9324e-34	1	1	0
CDC20	991	broad.mit.edu	37	1	43824890	43824890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43824890G>A	ENST00000372462.1	+	1	207	c.4G>A	c.(4-6)Gca>Aca	p.A2T	CDC20_ENST00000310955.6_Missense_Mutation_p.A2T			Q12834	CDC20_HUMAN	cell division cycle 20	2					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCTCCCATGGCACAGTTCGC	0.652000													30	46					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894587	77894587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77894587C>T	ENST00000262198.4	+	4	1746	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	431					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGGGTCCTGCAGGCTGTCTC	0.632000													16	39					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608053	28608053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28608053G>A	ENST00000380982.4	-	15	1994	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	FLT3_ENST00000241453.7_Missense_Mutation_p.S638L|FLT3_ENST00000537084.1_Missense_Mutation_p.S638L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	638	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTGGATTGAGACTCCTGT	0.453000			"""Mis, O"""		"""AML, ALL"""								59	136					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18419766	18419766	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18419766T>C	ENST00000338745.6	-	9	3205	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.T491A|SATB1_ENST00000417717.2_Missense_Mutation_p.T491A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	491					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCATGGTATTGTTCTCT	0.388000													15	212					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26648141	26648141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26648141C>T	ENST00000381340.3	-	38	5542	c.5126G>A	c.(5125-5127)aGt>aAt	p.S1709N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1709					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACACCAATACTATAATCACC	0.358000													28	42					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146790	98146790	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98146790C>T	ENST00000357947.3	-	14	1997	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCACACAGCGATGCTCGCA	0.592000													17	22					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8211083	8211083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8211083C>A	ENST00000600128.1	-	4	691	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	FBN3_ENST00000270509.2_Missense_Mutation_p.G93C|FBN3_ENST00000601739.1_Missense_Mutation_p.G93C			Q75N90	FBN3_HUMAN	fibrillin 3	93						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCAGAAGCCTTCACCGCAG	0.687000													5	3					0.00116845	0.00124821	1	1	0
ZNF281	23528	broad.mit.edu	37	1	200377356	200377356	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377356T>G	ENST00000294740.2	-	2	1602	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	ZNF281_ENST00000367353.1_Missense_Mutation_p.K493T|ZNF281_ENST00000367352.3_Missense_Mutation_p.K457T	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	493					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGACAAGGATTTCTGTCCTAC	0.393000													5	93					0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110922992	110922992	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110922992G>A	ENST00000377673.5	+	3	806	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	98																	TGATGGAGGCGTCCTTTTTCA	0.393000													11	88					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121461900	121461900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461900C>A	ENST00000257570.5	-	5	1210	c.940G>T	c.(940-942)Gca>Tca	p.A314S	OASL_ENST00000339275.5_Missense_Mutation_p.G233V	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	314					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCCTTCTGCCACGTTGAGG	0.557000													14	36					6.72482e-11	8.32712e-11	1	1	0
GPR110	266977	broad.mit.edu	37	6	46976733	46976733	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46976733T>C	ENST00000371253.2	-	11	2653	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	GPR110_ENST00000283297.5_Missense_Mutation_p.D616G|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	813					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCTGGCTGTCCACTATTGT	0.473000													18	31					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19770598	19770598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19770598G>A	ENST00000357324.6	-	3	515	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_ENST00000291503.5_Silent_p.G45G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	163					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587000													10	12					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	674702	674702	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:674702C>T	ENST00000301329.6	-	5	492		c.e5-1		GLOD4_ENST00000301328.5_Splice_Site|GLOD4_ENST00000536578.1_Splice_Site	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		aatacaggatctgttgggtaa	0.313000													46	65					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22054225	22054225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22054225G>A	ENST00000306385.5	+	14	2468	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	BMP1_ENST00000397816.3_Missense_Mutation_p.G600S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G600S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	600	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAGCTCAACGGCTCCATCAC	0.647000													17	29					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556241	57556241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57556241C>A	ENST00000243077.3	+	14	2810	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGACCCTTCTGCGCAGTGA	0.612000													29	48					4.22769e-11	5.25533e-11	1	1	0
MYO1C	4641	broad.mit.edu	37	17	1380819	1380819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380819C>T	ENST00000359786.5	-	14	1878	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	MYO1C_ENST00000545534.2_Silent_p.K494K|MYO1C_ENST00000361007.2_Silent_p.K483K|MYO1C_ENST00000438665.2_Silent_p.K499K|MYO1C_ENST00000575158.1_Silent_p.K483K	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	518	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGATGGTGCTTGACAGTAT	0.657000													16	15					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29972987	29972987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29972987C>A	ENST00000399218.4	-	2	188	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	GAREM_ENST00000269209.6_Nonsense_Mutation_p.E45*	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CGCAGCCCTTCTACGCACTCT	0.423000													9	55					5.4927e-09	6.6252e-09	1	1	0
LRRC41	10489	broad.mit.edu	37	1	46751289	46751289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751289A>G	ENST00000343304.6	-	4	1525	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	414										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTCATACAGGTCTTCA	0.562000													28	75					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632257	67632257	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67632257A>G	ENST00000272342.5	+	5	2573	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	815						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCTTAACACAACAGTTGGATT	0.313000													28	22					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126255145	126255145	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126255145G>T	ENST00000319340.2	+	2	179	c.129G>T	c.(127-129)tgG>tgT	p.W43C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	43					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCTCCAGCTGGCTTGGTGGGG	0.597000													17	40					3.41278e-10	4.19267e-10	1	1	0
F8	2157	broad.mit.edu	37	X	154159626	154159626	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154159626C>T	ENST00000360256.4	-	14	2639	c.2439G>A	c.(2437-2439)ttG>ttA	p.L813L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	813	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACTCTGTCGCAAGAGCATCA	0.418000													52	95					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35770971C>T	ENST00000187397.4	+	15	1858	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	468						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537000													6	43					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545980	10545980	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545980A>G	ENST00000583535.1	-	16	1729	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	MYH3_ENST00000226209.7_Missense_Mutation_p.S548P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGAAGGAGGTGTCTGTT	0.507000													5	97					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961369	51961369	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961369C>A	ENST00000321424.3	-	1	339	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E91D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E91D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	91	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCCTGGGTCTCTGCCTGCA	0.552000													36	72					8.16277e-20	1.06952e-19	1	1	0
COPA	1314	broad.mit.edu	37	1	160261620	160261620	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160261620G>A	ENST00000241704.7	-	30	3476	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	COPA_ENST00000368069.3_Missense_Mutation_p.R1092C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1083					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACAGATGCGCTTCTGCTGT	0.483000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	216					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48694535	48694535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694535G>A	ENST00000544264.1	-	2	4275	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1332V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1332					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCTAGCGCCGAGAAACT	0.672000													17	23					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54763910	54763910	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763910T>G	ENST00000307259.8	-	3	698	c.278A>C	c.(277-279)aAc>aCc	p.N93T	PPAP2A_ENST00000264775.5_Missense_Mutation_p.N94T|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	93					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGCTATGTAGTTATTCCTGAT	0.368000													8	76					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065692	242065692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242065692G>A	ENST00000403638.3	-	10	2729	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C	PASK_ENST00000405260.1_Missense_Mutation_p.R880C|PASK_ENST00000539818.1_Missense_Mutation_p.R664C|PASK_ENST00000544142.1_Missense_Mutation_p.R694C|PASK_ENST00000358649.4_Missense_Mutation_p.R880C|PASK_ENST00000234040.4_Missense_Mutation_p.R880C	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCCCCGCGCATCACGATC	0.642000													9	71					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36472881	36472881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36472881G>A	ENST00000378867.3	+	9	1063	c.708G>A	c.(706-708)acG>acA	p.T236T	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.T163T|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Silent_p.T236T	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	236										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACGTACACGCTGGGTAAGG	0.517000													21	47					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169172246	169172246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169172246C>A	ENST00000393743.3	-	28	4008	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1239	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GACCAAATACCTTCTGCAAAG	0.294000													22	30					2.70639e-06	3.11222e-06	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181518	57181518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181518C>T	ENST00000504228.1	+	6	1955	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A617V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A610V			Q6ZU35	K1211_HUMAN	KIAA1211	617										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGACACCGCGTGCAAGTCC	0.701000													10	13					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533445	22533445	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22533445G>A	ENST00000404369.4	-	3	510	c.95C>T	c.(94-96)aCg>aTg	p.T32M	STEAP1B_ENST00000406890.2_Intron	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	28						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GGTCTCTCCCGTGTCCTCATG	0.398000													30	31					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6610849	6610849	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6610849G>A	ENST00000285599.3	+	12	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.T559T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	610					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.T610T(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567000													3	17					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66247070	66247070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66247070G>T	ENST00000359904.3	+	3	1551	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AMZ2_ENST00000392720.2_Missense_Mutation_p.R140I|AMZ2_ENST00000580753.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577866.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577273.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577985.1_Missense_Mutation_p.R140I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	140							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCCTTTAGAGTCAATGAG	0.353000													17	38					1.33834e-09	1.62941e-09	1	1	0
TRAF6	7189	broad.mit.edu	37	11	36512081	36512081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36512081G>A	ENST00000526995.1	-	7	1122	c.876C>T	c.(874-876)gtC>gtT	p.V292V	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Silent_p.V292V	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	292	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGAAATTCCGGACCTCTGAGA	0.478000													46	91					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612000													8	23					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235810	34235810	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34235810G>T	ENST00000587132.1	-	0	2217																											AGTCTCTATGGTGAGTTCTGG	0.458000													3	28					0.115264	0.117355	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32032013	32032013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32032013C>A	ENST00000360311.4	+	2	1991	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGAGAGAAACCTTACAAGTGT	0.403000													27	38					9.39395e-14	1.19386e-13	1	1	0
ERCC4	2072	broad.mit.edu	37	16	14029554	14029554	+	Missense_Mutation	SNP	C	C	T	rs147105770	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14029554C>T	ENST00000311895.7	+	8	1774	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	589					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.R589W(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCTTTGTTCGGCAGCTTGA	0.478000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	50					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101838849	101838849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101838849C>T	ENST00000360264.3	+	14	1241	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CUX1_ENST00000547394.2_Silent_p.N391N|CUX1_ENST00000546411.2_Silent_p.N396N|CUX1_ENST00000292538.4_Silent_p.N407N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Silent_p.N405N|CUX1_ENST00000425244.2_Silent_p.N361N|CUX1_ENST00000556210.1_Silent_p.N396N|CUX1_ENST00000550008.2_Silent_p.N396N|CUX1_ENST00000549414.2_Silent_p.N396N|CUX1_ENST00000292535.7_Silent_p.N396N|CUX1_ENST00000393824.3_Silent_p.N368N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	396					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTCCGAGAACGCCGCGCTGC	0.682000													8	16					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851961	59851961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59851961C>T	ENST00000361421.1	-	3	531	c.311G>A	c.(310-312)gGc>gAc	p.G104D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	104						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGTAGCAGGCCATTATGGTT	0.488000													15	40					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826657	13826657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13826657G>A	ENST00000324750.3	+	1	1115	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TATGCCTTCCGCAGCCAAGAG	0.478000													50	75					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409299	39409299	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39409299C>A	ENST00000257408.4	+	1	827	c.730C>A	c.(730-732)Cta>Ata	p.L244I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	244	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAACCCATATCTAGTGGCTTG	0.428000													36	44					2.32173e-10	2.85835e-10	1	1	0
FZR1	51343	broad.mit.edu	37	19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3527008G>A	ENST00000441788.2	+	6	654	c.418G>A	c.(418-420)Gat>Aat	p.D140N	FZR1_ENST00000395095.3_Missense_Mutation_p.D140N|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	140					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662000													27	21					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29508478	29508478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508478C>T	ENST00000358273.4	+	6	1008	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q209*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q209*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	209					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGGTTGCGCAGTTAGCAGT	0.299000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	30					0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863304	100863304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100863304T>C	ENST00000303130.2	+	1	494	c.265T>C	c.(265-267)Tca>Cca	p.S89P		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	89						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TATCGAGTATTCATCAACTGG	0.403000													53	137					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224872497	224872497	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224872497G>A	ENST00000272133.3	+	3	1032		c.e3-1			NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCCTGATAGAGGGAACGGT	0.542000													29	56					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180064777	180064777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180064777C>T	ENST00000367607.3	+	35	9049	c.8631C>T	c.(8629-8631)gaC>gaT	p.D2877D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2877						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGATGAAGACTTTGGTTTGA	0.448000													8	51					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081849	54081849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54081849C>T	ENST00000394705.2	-	2	315	c.45G>A	c.(43-45)tcG>tcA	p.S15S	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACATGGAGCGAGGTGGCAT	0.522000													35	81					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209781261	209781261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209781261C>T	ENST00000009105.1	+	7	863	c.618C>T	c.(616-618)ggC>ggT	p.G206G	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.G206G			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGTCCATCGGCGTCATCACCT	0.582000													28	44					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241667	1241667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1241667G>A	ENST00000308624.5	+	10	856	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	SNTG2_ENST00000407292.1_Missense_Mutation_p.A116T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	243					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTGGAATGCGTTCGAGGT	0.657000													3	3					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819268	43819268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43819268C>A	ENST00000382031.1	+	5	6342	c.6311C>A	c.(6310-6312)cCt>cAt	p.P2104H	MAP1A_ENST00000399453.1_Missense_Mutation_p.P1866H|MAP1A_ENST00000300231.5_Missense_Mutation_p.P1866H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1866						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACACCTGCCCCGGAA	0.652000													8	12					0.27861	0.279982	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46564140	46564140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46564140C>T	ENST00000458649.2	-	7	1845	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	AMBRA1_ENST00000534300.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G386E|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G476E|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G386E			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	476					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTTGCCAACCCTGATGCCGG	0.547000													40	70					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29770598	29770598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29770598G>A	ENST00000375398.2	-	30	5464	c.5015C>T	c.(5014-5016)aCg>aTg	p.T1672M	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.T1672M|SVIL_ENST00000535393.1_Missense_Mutation_p.T586M|SVIL_ENST00000538146.1_Missense_Mutation_p.T464M|SVIL_ENST00000375400.3_Missense_Mutation_p.T1246M|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1672	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAACAAAATCGTCTCATTGTG	0.522000													92	245					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78516178C>T	ENST00000397909.2	+	16	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1403M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCATGAGAACGGGTAGTGTG	0.552000										HNSCC(70;0.22)			14	76					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39794927	39794927	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39794927C>T	ENST00000373272.2	+	17	2298	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	PLCG1_ENST00000373271.1_Silent_p.S631S|PLCG1_ENST00000244007.3_Silent_p.S631S	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	631	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCTTTGACTCCCTCTATGACC	0.567000													4	76					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993529	21993529	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21993529G>T	ENST00000327430.3	-	2	627	c.333C>A	c.(331-333)acC>acA	p.T111T	SALL2_ENST00000450879.2_Silent_p.T109T|SALL2_ENST00000317492.5_Silent_p.T111T|SALL2_ENST00000538754.1_Silent_p.T109T	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	111							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGCCCCAGGTGGGATCCG	0.637000													5	70					5.9392e-07	6.91975e-07	1	1	0
GALNT5	11227	broad.mit.edu	37	2	158114767	158114767	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158114767G>T	ENST00000259056.4	+	1	658	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATAGGATTCAGAGTTCAGCCA	0.488000													58	92					8.77104e-35	1.17968e-34	1	1	0
AHRR	57491	broad.mit.edu	37	5	434145	434145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:434145C>T	ENST00000316418.5	+	12	1400	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	AHRR_ENST00000505113.1_Silent_p.P434P|AHRR_ENST00000512529.1_Silent_p.P280P|AHRR_ENST00000506456.1_Silent_p.P290P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCCCATGCCCCGCGGCTCCT	0.692000													8	12					0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159545952	159545952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159545952G>A	ENST00000456329.3	-	1	478	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PWWP2A_ENST00000523662.1_Silent_p.G148G|PWWP2A_ENST00000307063.7_Silent_p.G148G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	148										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGTCCCCGCCCGCCGGCG	0.731000													7	5					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350917	56350917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56350917G>A	ENST00000340482.3	-	8	1751	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	MPO_ENST00000225275.3_Silent_p.V493V			P05164	PERM_HUMAN	myeloperoxidase	493					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATTGGTGAAGACGTTGGCGA	0.617000													42	90					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018737	1018737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1018737G>A	ENST00000421673.2	-	31	4114	c.4064C>T	c.(4063-4065)aCg>aTg	p.T1355M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1355	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGTGGCCGTTGTTCCTGG	0.582000													49	66					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44096855	44096855	+	Missense_Mutation	SNP	C	C	T	rs111946192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44096855C>T	ENST00000422989.1	-	3	1350	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.G399S	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	399							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTCTTCATGCCGACAACCTGC	0.622000													43	51					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160721284	160721284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160721284C>A	ENST00000274547.2	-	11	1560	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	GABRB2_ENST00000353437.6_Missense_Mutation_p.R410M|GABRB2_ENST00000520240.1_Missense_Mutation_p.R410M|GABRB2_ENST00000517901.1_Missense_Mutation_p.R347M|GABRB2_ENST00000517547.1_Missense_Mutation_p.R250M|GABRB2_ENST00000393959.1_Missense_Mutation_p.R448M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAAACTATGCCTGGGCAACCC	0.537000													32	30					2.09667e-21	2.75882e-21	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71886144	71886144	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71886144T>C	ENST00000373545.3	-	8	1159	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	PHKA1_ENST00000373542.4_Missense_Mutation_p.I241V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I241V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I241V|PHKA1_ENST00000541944.1_Missense_Mutation_p.I241V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	241					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAATTTAGGATAGACTAAGAG	0.378000													3	44					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13424821	13424821	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13424821A>C	ENST00000278174.5	-	8	1256	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	BTBD10_ENST00000530907.1_Missense_Mutation_p.I345M|BTBD10_ENST00000528120.1_Missense_Mutation_p.I289M	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	337						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGTGCTATAAATAACTAGAA	0.294000													8	82					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385045	133385045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133385045G>T	ENST00000204726.3	-	5	1168	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	GOLGA3_ENST00000545875.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L204M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L204M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	204	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCATAGCCAGGGTACTGGCC	0.512000													36	350					8.73648e-17	1.12908e-16	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204109171	204109171	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204109171T>C	ENST00000367199.2	-	4	1063	c.653A>G	c.(652-654)gAg>gGg	p.E218G	ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367202.4_Missense_Mutation_p.E287G|ETNK2_ENST00000367198.2_Missense_Mutation_p.E109G|ETNK2_ENST00000367201.3_Missense_Mutation_p.E287G|ETNK2_ENST00000477125.1_5'UTR			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	287							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCAAACTCATTGAAATG	0.443000													9	69					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276166	150276166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276166G>T	ENST00000446148.2	-	7	1110	c.683C>A	c.(682-684)cCt>cAt	p.P228H	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.P212H|ZNF300_ENST00000418587.2_Missense_Mutation_p.P176H|ZNF300_ENST00000394226.2_Missense_Mutation_p.P212H	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCTGATCAGGTTTTTTTCT	0.328000													20	101					2.37509e-13	3.01126e-13	1	1	0
ERGIC3	51614	broad.mit.edu	37	20	34144848	34144848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34144848G>A	ENST00000348547.2	+	11	1061	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ERGIC3_ENST00000357394.4_Silent_p.S333S|ERGIC3_ENST00000279052.6_Silent_p.S333S|ERGIC3_ENST00000447986.1_Silent_p.S343S	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	328					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ATGAGCTCTCGCCCATGATGG	0.602000													19	20					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16770223	16770223	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16770223G>A	ENST00000337132.5	+	2	279	c.189G>A	c.(187-189)acG>acA	p.T63T	NECAP2_ENST00000457722.2_Silent_p.T37T|NECAP2_ENST00000443980.2_Silent_p.T63T|NECAP2_ENST00000406746.1_Silent_p.T63T|NECAP2_ENST00000504551.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	63					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACAGGACGTCAGGTAACC	0.617000													5	15					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3942216	3942216	+	Missense_Mutation	SNP	G	G	A	rs148078582	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3942216G>A	ENST00000168977.2	+	8	928	c.638G>A	c.(637-639)cGc>cAc	p.R213H	NMRK2_ENST00000593949.1_Missense_Mutation_p.R218H|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		GGACCCGGACGCGGATGCGGC	0.647000													9	13					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97474383	97474383	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97474383C>A	ENST00000377075.2	+	6	2132	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	CNNM4_ENST00000540067.1_Silent_p.T165T|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	678					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGCAGCAACCTTGGCAGGCA	0.607000													9	31					2.17888e-05	2.45068e-05	1	1	0
URB2	9816	broad.mit.edu	37	1	229794981	229794981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794981C>T	ENST00000258243.2	+	10	4648	c.4512C>T	c.(4510-4512)ctC>ctT	p.L1504L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1504						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTAAGGAGCTCTATAATGACT	0.522000													94	122					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047762	160047762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160047762T>C	ENST00000327245.5	-	15	2854	c.2008A>G	c.(2008-2010)Agt>Ggt	p.S670G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	670					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCCACTGCACACAGAT	0.582000													6	66					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300299	196300299	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196300299A>G	ENST00000367433.5	-	18	2191	c.2090T>C	c.(2089-2091)tTa>tCa	p.L697S	KCNT2_ENST00000451324.2_Missense_Mutation_p.L308S|KCNT2_ENST00000294725.8_Missense_Mutation_p.L697S|KCNT2_ENST00000367431.4_Missense_Mutation_p.L647S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	697						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCTAATCTTAAGCAGCAAAA	0.294000													12	215					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77921465	77921465	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77921465G>A	ENST00000310924.2	-	9	1822	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	TBC1D16_ENST00000570373.1_Silent_p.D208D|TBC1D16_ENST00000576768.1_Silent_p.D194D|TBC1D16_ENST00000572862.1_Silent_p.D207D|TBC1D16_ENST00000340848.7_Silent_p.D207D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	569	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCATGTCCTCGTCCCGGGGTG	0.607000													14	30					0	0	1	0	0
PCDHB14	0	broad.mit.edu	37	5	140604400	140604400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140604400C>T	ENST00000239449.4	+	1	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCDHB14_ENST00000515856.2_Silent_p.L288L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGCTCTCTGACGTCA	0.582000													43	77					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27597589	27597589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27597589G>T	ENST00000233575.2	+	8	867	c.645G>T	c.(643-645)atG>atT	p.M215I	SNX17_ENST00000543024.1_Start_Codon_SNP_p.M1I|SNX17_ENST00000537606.1_Missense_Mutation_p.M190I|SNX17_ENST00000542478.1_Start_Codon_SNP_p.M1I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	215					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGATGTCATGGAGAACCGGG	0.522000													7	87					5.68852e-11	7.05143e-11	1	1	0
GSC2	2928	broad.mit.edu	37	22	19137263	19137263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19137263C>A	ENST00000086933.2	-	2	425	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	142					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					CGAAAAGCGCCTCGAGCGCCT	0.721000													5	3					0.184627	0.186383	1	1	0
PIK3CB	5291	broad.mit.edu	37	3	138426069	138426069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138426069C>T	ENST00000477593.1	-	10	1535	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A488T|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	488					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAAGCTGTTGCATTTTCAGTA	0.313000													8	47					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103027136	103027136	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103027136T>C	ENST00000262457.2	+	11	1682	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	INVS_ENST00000262456.2_Silent_p.N499N|INVS_ENST00000541287.1_Silent_p.N403N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	499					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCTGCAACAATGGATACCTTG	0.343000													28	44					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91484805	91484805	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91484805T>C	ENST00000416354.1	+	15	1963	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	KIF20B_ENST00000394289.2_Silent_p.L631L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.L631L|KIF20B_ENST00000260753.4_Silent_p.L631L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	631					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACGAGAGATATTAGAAGAAAA	0.358000													39	49					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25002836	25002836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25002836G>T	ENST00000261192.7	-	6	1084	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCAT1_ENST00000539282.1_Silent_p.L198L|BCAT1_ENST00000538118.1_Silent_p.L185L|BCAT1_ENST00000342945.5_Silent_p.L125L|BCAT1_ENST00000539780.1_Silent_p.L149L|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	186					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGGCTCAAGAGTACAAAGA	0.468000													18	36					6.49762e-13	8.19883e-13	1	1	0
DUSP12	11266	broad.mit.edu	37	1	161723043	161723043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161723043G>T	ENST00000367943.4	+	5	885	c.853G>T	c.(853-855)Gat>Tat	p.D285Y	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	285					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGTGATGGATGGACAGGT	0.358000													11	119					9.70103e-10	1.18443e-09	1	1	0
FAM53B	9679	broad.mit.edu	37	10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	rs140442850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682000													8	14					0	0	1	0	0
PSMB8	5696	broad.mit.edu	37	6	32810845	32810845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32810845G>T	ENST00000374881.2	-	2	446	c.157C>A	c.(157-159)Ctg>Atg	p.L53M	PSMB8_ENST00000395339.3_Missense_Mutation_p.L57M|PSMB8_ENST00000374882.3_Missense_Mutation_p.L57M	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCCCCACCCAGGGACTGGAAG	0.488000													5	30					2.0095e-06	2.31757e-06	1	1	0
UNC5CL	222643	broad.mit.edu	37	6	41000828	41000828	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41000828C>T	ENST00000244565.3	-	4	832	c.744G>A	c.(742-744)caG>caA	p.Q248Q	UNC5CL_ENST00000373164.1_Silent_p.Q248Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	248	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATACGGCCAGCTGCAGCCATT	0.622000													5	9					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458000													12	23					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21985378	21985378	+	Translation_Start_Site	SNP	G	G	A	rs138924455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21985378G>A	ENST00000415881.2	+	0	204				SMS_ENST00000404933.2_Silent_p.S38S|SMS_ENST00000379404.1_Silent_p.S38S|SMS_ENST00000478094.1_3'UTR			P52788	SPSY_HUMAN	spermine synthase						methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGCGGAGTCGGTGCACACCT	0.517000													11	31					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65473760	65473760	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65473760C>A	ENST00000260641.5	+	3	419	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	ACTR2_ENST00000542850.1_Missense_Mutation_p.L33M|ACTR2_ENST00000377982.4_Missense_Mutation_p.L93M|ACTR2_ENST00000476840.1_3'UTR	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	88					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CATGAAACACCTGTGGGACTA	0.378000													11	134					0.000673444	0.000724755	1	1	0
EBF2	64641	broad.mit.edu	37	8	25890667	25890667	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25890667C>T	ENST00000520164.1	-	6	1022	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R14Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	162		Interaction with DNA (By similarity).			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCGCAGCATCGACTGTAGAT	0.398000													17	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237732539	237732539	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237732539T>C	ENST00000366574.2	+	29	3835	c.3518T>C	c.(3517-3519)aTg>aCg	p.M1173T	RYR2_ENST00000542537.1_Missense_Mutation_p.M1157T|RYR2_ENST00000360064.6_Missense_Mutation_p.M1171T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1173	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACACACCATGATGTTCACA	0.483000													8	26					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139065	37139065	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139065A>G	ENST00000373509.5	+	4	778	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	226	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCATCACGGAAAGGGGAGCCC	0.632000			T	BCL6	NHL								17	103					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20515715	20515715	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20515715C>T	ENST00000331079.6	+	15	1618	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	PRMT3_ENST00000437750.2_Silent_p.V405V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	467							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAATTCAGGTCGTGTTCTCTA	0.373000													93	157					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50490635	50490635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50490635C>T	ENST00000394963.4	+	11	1670	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SMARCD1_ENST00000381513.4_Intron|SMARCD1_ENST00000548573.1_Silent_p.I222I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	424	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTTTCAGATCCATGAGACAA	0.458000													22	25					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629795	48629795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48629795C>T	ENST00000328333.8	-	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R361Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	361	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGAGGACCCGCCATGTCAC	0.632000													11	8					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115153703	115153703	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115153703G>A	ENST00000393274.1	-	9	1985	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DENND2C_ENST00000393276.3_Silent_p.L397L|DENND2C_ENST00000393277.1_Silent_p.L454L|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	454										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGGCAGATACTCGGCA	0.463000													16	39					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53654813	53654813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53654813G>A	ENST00000342160.3	-	15	1717	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	HUWE1_ENST00000262854.6_Silent_p.G420G|HUWE1_ENST00000218328.8_Silent_p.G420G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	420					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTTCATCGCCAAGAAACT	0.393000													18	23					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631978	116631978	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116631978T>C	ENST00000395715.3	-	3	924	c.347A>G	c.(346-348)gAt>gGt	p.D116G	TRPS1_ENST00000220888.5_Missense_Mutation_p.D103G|TRPS1_ENST00000520276.1_Missense_Mutation_p.D107G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.D103G	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	103					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTCACCTCATCATGCGGAAA	0.502000									Langer-Giedion syndrome				3	84					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43542816	43542816	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:43542816A>C	ENST00000338702.3	+	2	252	c.129A>C	c.(127-129)gaA>gaC	p.E43D	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	43					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGGTTTTAGAAGCTCGGGACA	0.368000													5	103					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289319	62289319	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289319T>G	ENST00000378024.4	-	5	12844	c.12570A>C	c.(12568-12570)aaA>aaC	p.K4190N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4190					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCACTTTGGGCATTT	0.537000													122	155					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836289	4836289	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4836289G>A	ENST00000329125.5	+	2	465	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	130										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGCTGACCTCGCTGCCTCTTG	0.612000													33	43					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16863952	16863952	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16863952A>G	ENST00000380087.2	-	11	1568	c.1209_splice	c.e11+1	p.M403_splice	RBBP7_ENST00000380084.4_Splice_Site_p.M447_splice|RBBP7_ENST00000404022.1_Splice_Site_p.M394_splice			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	403					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTAACTCACCATTTGCCATAT	0.363000													5	51					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327221	150327221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150327221C>A	ENST00000328902.5	-	2	226	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	GIMAP6_ENST00000493969.1_Nonsense_Mutation_p.E4*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	4							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATATTCTTCTTCCTCCATC	0.433000													18	75					0.000566183	0.000614449	1	1	0
IRAK3	0	broad.mit.edu	37	12	66638420	66638420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66638420C>T	ENST00000261233.4	+	9	1463	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.Q287*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	348	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTACATCAGACAGGGGAAACT	0.428000													5	90					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394579	109394579	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394579C>A	ENST00000370001.3	-	2	976	c.708G>T	c.(706-708)caG>caT	p.Q236H	AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q236H|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q236H|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	236										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCAGTCTGCTGTTTCTGGG	0.418000													15	206					3.45872e-05	3.88335e-05	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189868847C>T	ENST00000304636.3	+	39	2971	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488000													13	26					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183014	55183014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55183014C>A	ENST00000337714.3	+	2	422	c.189C>A	c.(187-189)gtC>gtA	p.V63V	AKAP1_ENST00000539273.1_Silent_p.V63V|AKAP1_ENST00000572557.1_Silent_p.V63V|AKAP1_ENST00000571629.1_Silent_p.V63V|AKAP1_ENST00000314126.3_Silent_p.V63V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	63					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGAAGACGTCTGTCCCAAAG	0.602000													8	21					0.00307968	0.00325696	1	1	0
SLC38A1	81539	broad.mit.edu	37	12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289000													10	21					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87069024	87069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87069024C>T	ENST00000265723.4	-	14	1801	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	ABCB4_ENST00000545634.1_Missense_Mutation_p.D564N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D564N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D564N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	564	ABC transporter 1.		D -> G (in PFIC3).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTCTGTGTCCAATGCTGAC	0.527000													61	38					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48717251	48717251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48717251C>T	ENST00000294129.2	-	7	1452	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.V445M|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.V438M	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	445	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAATAGGCCACCAAGGCCAGG	0.522000													5	73					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56142924	56142924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56142924C>T	ENST00000508342.1	-	10	2719	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N	NEDD4_ENST00000435532.3_Missense_Mutation_p.S388N|NEDD4_ENST00000506154.1_Missense_Mutation_p.S791N|NEDD4_ENST00000338963.2_Missense_Mutation_p.S735N			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	807	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTCAGCTGACTGGTCTCCAC	0.443000													3	44					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106766643	106766643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106766643C>T	ENST00000515279.1	+	12	2031	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	GSTCD_ENST00000394730.3_Missense_Mutation_p.A517V|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.A604V|GSTCD_ENST00000394728.3_Missense_Mutation_p.A604V			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	604						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCAAGAGCTGCAGAAGAATGT	0.448000													13	42					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439805	44439805	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44439805C>T	ENST00000372622.3	+	13	1029	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	321						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATGAGCATCGTGCTGTTGA	0.557000													43	54					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427135	6427135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6427135G>A	ENST00000321510.6	-	6	987	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATCCTGGTGCGCACCAGAGTC	0.632000													3	7					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587619	53587619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53587619C>T	ENST00000267082.5	-	11	1606	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	ITGB7_ENST00000338737.4_Missense_Mutation_p.A459T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A459T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A459T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	459					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAAGGGCCCGGAGCCTC	0.582000													29	42					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201248	168201248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168201248G>A	ENST00000519560.1	-	13	1706	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLIT3_ENST00000332966.8_Silent_p.I429I|SLIT3_ENST00000404867.3_Silent_p.I429I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	429					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTGTCTGGATGGACTGCA	0.557000													46	111					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89319298	89319298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89319298C>T	ENST00000380265.5	+	8	1212	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	HERC6_ENST00000264346.7_Silent_p.F343F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	343			F -> L (in dbSNP:rs17014118).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTAGACTTCGTGGATGTTC	0.294000													5	11					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701702	103701702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103701702C>T	ENST00000245312.3	-	5	1452	c.856G>A	c.(856-858)Gta>Ata	p.V286I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	286					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGGTGAATACGACATTGAGC	0.473000													4	68					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41288056	41288056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41288056G>T	ENST00000347132.5	+	8	1194	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S371I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	371					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TACTATGACAGTATCCTCCCA	0.627000													9	23					2.52707e-12	3.17576e-12	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35667259	35667259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35667259C>A	ENST00000440995.2	+	9	1253	c.1253C>A	c.(1252-1254)gCt>gAt	p.A418D	SPEF2_ENST00000509059.1_Missense_Mutation_p.A418D|SPEF2_ENST00000356031.3_Missense_Mutation_p.A418D|SPEF2_ENST00000282469.6_Missense_Mutation_p.A418D			Q9C093	SPEF2_HUMAN	sperm flagellar 2	418					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGAAAGAGCTCAAGCTCGT	0.348000													19	25					5.03518e-11	6.25324e-11	1	1	0
HABP2	3026	broad.mit.edu	37	10	115341888	115341888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115341888C>T	ENST00000351270.3	+	9	1188	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.T338T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	364	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.T364T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCCACTGCACCGAGTAGGTGC	0.637000													5	17					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019486	110019486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110019486G>A	ENST00000369872.3	+	4	559	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SYPL2_ENST00000401021.3_Missense_Mutation_p.A115T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	115	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTGCACCCGCCGAGTTCTT	0.537000													9	39					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56438188	56438188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56438188C>A	ENST00000584437.1	-	6	2760	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	RNF43_ENST00000583753.1_Missense_Mutation_p.A228S|RNF43_ENST00000407977.2_Missense_Mutation_p.A269S|RNF43_ENST00000577625.1_Missense_Mutation_p.A142S|RNF43_ENST00000581868.1_Missense_Mutation_p.A142S|RNF43_ENST00000500597.2_Missense_Mutation_p.A228S|RNF43_ENST00000577716.1_Missense_Mutation_p.A269S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	269						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACAGGGGCTGAGCTGCAG	0.632000													14	17					1.49906e-05	1.69169e-05	1	1	0
C4orf22	255119	broad.mit.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81866076C>A	ENST00000358105.3	+	5	638	c.589C>A	c.(589-591)Ctt>Att	p.L197I	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333000													16	56					4.7546e-09	5.74312e-09	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86123477	86123477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86123477G>T	ENST00000394518.2	+	7	2273	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q726H	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	726					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGATACCCAGGAACGTGCGG	0.478000													31	34					7.26314e-15	9.28782e-15	1	1	0
TRBC2	0	broad.mit.edu	37	7	142498959	142498959	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142498959G>A	ENST00000466254.1	+	0	235																											CTGAGCAGCCGCCTGAGGGTC	0.622000													7	89					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266618	113266618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113266618G>A	ENST00000369630.3	+	4	534	c.317G>A	c.(316-318)cGc>cAc	p.R106H	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCACTCCGCCTCCTGCTC	0.632000													16	27					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138969078	138969078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969078C>T	ENST00000288561.8	+	15	3427	c.3178C>T	c.(3178-3180)Ctt>Ttt	p.L1060F	UBN2_ENST00000473989.2_Missense_Mutation_p.L1143F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1143	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TACAAAAAATCTTCAGGCCCC	0.473000													8	41					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775831	70775831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775831C>A	ENST00000361983.4	+	7	1627	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	509					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AATAAATAATCTTAATAAGTC	0.393000													7	50					0.00198382	0.00210581	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101834143	101834143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834143G>A	ENST00000263468.8	+	6	2647	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	KIAA1377_ENST00000537689.1_Missense_Mutation_p.A594T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	793							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTTACACAAGCTCAGGGAAA	0.383000													6	80					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75108826C>T	ENST00000309664.5	+	3	528	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.S130L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667000													28	59					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47819616	47819616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47819616G>A	ENST00000359568.5	+	25	4804	c.4697G>A	c.(4696-4698)cGt>cAt	p.R1566H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1566					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAATTAAACGTCTGGAGGAG	0.398000													39	54					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434238	101434238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101434238C>T	ENST00000329841.5	+	6	1149	c.617C>T	c.(616-618)gCg>gTg	p.A206V	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	206					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGAAGCCTGCGGAGCAGACA	0.547000													7	133					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117563	4117563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4117563G>A	ENST00000262948.5	-	2	410	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCAGCCGCTTCTTCTGC	0.592000													30	43					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36044680	36044680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36044680G>T	ENST00000262623.3	-	17	2561	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	845					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTGGACGCAGGTGCATGATG	0.607000													5	7					1.23904e-05	1.39987e-05	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53222210	53222210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53222210G>A	ENST00000375401.3	-	26	5154	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	KDM5C_ENST00000404049.3_Missense_Mutation_p.S1540F|KDM5C_ENST00000375379.3_Missense_Mutation_p.S1538F|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1497F|KDM5C_ENST00000452825.3_Intron	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1541					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGTCAGAGTGGAGAAAGGGGC	0.652000			"""N, F, S"""		clear cell renal carcinoma								14	10					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428179	428179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:428179C>T	ENST00000332826.6	-	15	1327	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	415						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTCTCTCGCTCCGAGAAGGTC	0.607000													14	24					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502619	50502619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50502619G>A	ENST00000311597.5	-	11	1509	c.903C>T	c.(901-903)taC>taT	p.Y301Y	MLC1_ENST00000538737.1_Silent_p.Y267Y|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.Y301Y|MLC1_ENST00000431262.2_Silent_p.Y271Y|MLC1_ENST00000450140.2_Silent_p.Y249Y|MLC1_ENST00000535444.1_Silent_p.Y222Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	301						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		gcagcaCATCGTAGGATGGCT	0.652000													5	7					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112406886	112406886	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406886G>T	ENST00000302475.4	-	10	1823	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	MCC_ENST00000515367.2_Silent_p.T357T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T610T	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	420					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCCTCCAAGGTTATGGTCA	0.463000													14	133					0.146539	0.149173	1	1	0
TMC6	11322	broad.mit.edu	37	17	76117674	76117674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76117674G>A	ENST00000590602.1	-	11	1505	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMC6_ENST00000392467.3_Missense_Mutation_p.A449V|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.A88V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.A88V|TMC6_ENST00000589553.1_Missense_Mutation_p.A222V|TMC6_ENST00000322914.3_Missense_Mutation_p.A449V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	449						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACGGCCACGGCGCAGCCCAG	0.697000													10	11					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75168791	75168791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75168791C>T	ENST00000336898.3	-	5	1099	c.262G>A	c.(262-264)Gta>Ata	p.V88I	GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000529721.1_Missense_Mutation_p.V88I|GDPD5_ENST00000443276.2_Missense_Mutation_p.V88I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	88					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGATGGGTACGGGCCAGTCG	0.637000													17	34					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522096	7522096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7522096G>A	ENST00000313599.3	-	15	3953	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1309V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1299V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1299	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAAACGAAGCGTCCCTCAG	0.592000													45	61					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172307	94172307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172307C>T	ENST00000297689.3	-	2	1104	c.710G>A	c.(709-711)gGc>gAc	p.G237D		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	237					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAAGAGCCTCGGTCATC	0.488000													32	42					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303299	154303299	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154303299C>T	ENST00000368489.3	+	4	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.C52C|ATP8B2_ENST00000368487.3_Silent_p.C33C	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	52					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTAACTGCATCAAGACCT	0.488000													4	43					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93489432	93489432	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93489432A>G	ENST00000394196.4	+	12	2431	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CHD2_ENST00000420239.2_Missense_Mutation_p.T455A|CHD2_ENST00000536619.1_Missense_Mutation_p.T468A|CHD2_ENST00000557381.1_Missense_Mutation_p.T455A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	455	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACCATCCCAACAAGAGAATG	0.398000													3	55					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746548	1746548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1746548G>A	ENST00000313288.4	+	15	2546	c.2440G>A	c.(2440-2442)Gtg>Atg	p.V814M		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	814						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGAAGACAGTGGAGCAGAA	0.657000													4	31					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38845169	38845169	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38845169C>A	ENST00000339659.3	+	2	1664	c.194C>A	c.(193-195)cCt>cAt	p.P65H	DYRK1A_ENST00000398956.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P65H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P65H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.P65H|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P65H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	65					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCAGCAACCTCTAACTAAC	0.408000													6	100					0.0215528	0.0221649	1	1	0
MDN1	23195	broad.mit.edu	37	6	90428292	90428292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90428292T>C	ENST00000369393.3	-	43	6491	c.6376A>G	c.(6376-6378)Agg>Ggg	p.R2126G	MDN1_ENST00000428876.1_Missense_Mutation_p.R2126G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2126					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCCCTTACAGTTCCC	0.463000													19	46					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11790177	11790177	+	Silent	SNP	C	C	T	rs151325104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11790177C>T	ENST00000262442.3	+	57	11075	c.11007C>T	c.(11005-11007)aaC>aaT	p.N3669N	DNAH9_ENST00000454412.2_Silent_p.N3669N|DNAH9_ENST00000396001.2_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3669					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATCAACGAGGCCCGAG	0.522000													22	37					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25773921	25773921	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773921A>G	ENST00000428257.1	-	9	1367	c.1260T>C	c.(1258-1260)atT>atC	p.I420I	NGLY1_ENST00000280700.5_Silent_p.I438I|NGLY1_ENST00000417874.2_Silent_p.I396I|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Silent_p.I438I	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	438					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGCTCCACAATTATCCTCT	0.398000													6	61					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561089	117561089	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117561089G>A	ENST00000256652.4	+	6	1982	c.1924G>A	c.(1924-1926)Gta>Ata	p.V642I	CD101_ENST00000369470.1_Missense_Mutation_p.V642I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	642	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGTGTGAAGTAGAAGTTTA	0.483000													11	75					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220320874	220320874	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220320874T>G	ENST00000366922.1	+	23	3051	c.2720T>G	c.(2719-2721)gTc>gGc	p.V907G	IARS2_ENST00000302637.5_Missense_Mutation_p.V979G			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979				I -> T (in Ref. 6; BAB14164).	isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388000													20	61					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683897	6683897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683897C>T	ENST00000321535.4	+	2	840	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	237										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACTGTATCTCCGACGAGCTG	0.512000													5	74					0	0	1	0	0
FAM13B	0	broad.mit.edu	37	5	137342722	137342722	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137342722T>C	ENST00000033079.3	-	7	1256	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FAM13B_ENST00000420893.2_Missense_Mutation_p.M269V|FAM13B_ENST00000425075.2_Missense_Mutation_p.M151V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTTTCAGTCATCCTTAATTGT	0.373000													14	122					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012180	160012180	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160012180C>T	ENST00000368089.3	-	2	369	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	48						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAGGAAGCGCTTGTCGGC	0.557000													40	81					0	0	1	0	0
FAM122B	159090	broad.mit.edu	37	X	133919928	133919928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133919928G>T	ENST00000370790.1	-	7	1418	c.490C>A	c.(490-492)Ctt>Att	p.L164I	FAM122B_ENST00000486347.1_Missense_Mutation_p.L165I|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.L183I|FAM122B_ENST00000298090.6_Missense_Mutation_p.L183I	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	164										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTTTAAGAGGACCAAGA	0.393000													5	109					2.7689e-08	3.31013e-08	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118451868	118451868	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118451868G>T	ENST00000369209.3	-	6	761	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	219							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCACCTGGTAGGCAGCTTGTC	0.597000													11	127					1.08611e-07	1.2824e-07	1	1	0
OR56A3	390083	broad.mit.edu	37	11	5969408	5969408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5969408G>A	ENST00000329564.6	+	1	839	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTGCCAGTCTTGCTCAA	0.483000													63	88					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621448	56621448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56621448C>T	ENST00000321691.3	-	1	281	c.100G>A	c.(100-102)Gtt>Att	p.V34I	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	34										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCAAGAACGTACCCATGT	0.532000													31	43					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120819204	120819204	+	Silent	SNP	C	C	T	rs61729177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120819204C>T	ENST00000369144.3	-	10	1480	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	EIF3A_ENST00000541549.1_Silent_p.E417E|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	451	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AACGAGAAAACTCAATGCTCT	0.418000													23	37					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341773	139341773	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139341773C>T	ENST00000313050.7	-	25	6676	c.6603G>A	c.(6601-6603)ggG>ggA	p.G2201G	SEC16A_ENST00000371706.3_Silent_p.G2023G|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000290037.6_Silent_p.G2023G|SEC16A_ENST00000431893.2_Silent_p.G2023G|SEC16A_ENST00000313084.5_Silent_p.G207G	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCGCTGGGTCCCGCTTGGGT	0.612000													9	7					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619132	46619132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46619132C>T	ENST00000242848.4	-	3	533	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G62D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	62							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTGAAGGGCCATGTACGAA	0.373000													23	29					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32474382	32474382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32474382G>T	ENST00000341377.5	+	5	998	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	NRG1_ENST00000287840.5_Nonsense_Mutation_p.E161*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E161*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000523079.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E161*			Q02297	NRG1_HUMAN	neuregulin 1	161					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATCCACAGAAGGAGCAAA	0.353000													5	109					1.23904e-05	1.39987e-05	1	1	0
PAPD4	167153	broad.mit.edu	37	5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78975427C>T	ENST00000453514.1	+	13	1927	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000296783.3_Missense_Mutation_p.R412C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313000													18	33					0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48559102	48559102	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48559102G>T	ENST00000376687.3	+	3	976	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SUV39H1_ENST00000453214.2_Missense_Mutation_p.R110I|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E273D|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	262	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCACCCTGGAGAAGATTCGCA	0.572000													4	24					0.150653	0.152692	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84804521	84804521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84804521C>T	ENST00000389394.3	+	13	2202	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	DNAH6_ENST00000237449.6_Nonsense_Mutation_p.R689*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R689*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCACCTTTGCGATGCTTAGA	0.333000													9	17					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102944426	102944426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102944426G>A	ENST00000249269.4	+	5	633	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PMPCB_ENST00000428154.1_Missense_Mutation_p.A199T|PMPCB_ENST00000420236.2_Missense_Mutation_p.A94T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	199					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATCTTCATGCCACAGCTTA	0.373000													6	67					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679440	219679440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679440G>A	ENST00000258415.4	+	8	1863	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	479			R -> C (in CTX).		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCCTGGGCCGCAGGATTGCA	0.652000													12	19					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212785	134212785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134212785G>T	ENST00000535456.2	+	2	412	c.224G>T	c.(223-225)aGg>aTg	p.R75M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R75M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R75M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	75					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTGCCCAGGGAGTACTGG	0.612000													5	73					0.184627	0.186383	1	1	0
MCOLN1	57192	broad.mit.edu	37	19	7595356	7595356	+	Missense_Mutation	SNP	C	C	T	rs151300825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7595356C>T	ENST00000264079.6	+	12	1669	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTCATCGCGCTCATCACC	0.622000													67	89					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582000													11	100					1.58986e-06	1.84011e-06	1	1	0
CSN3	1448	broad.mit.edu	37	4	71110547	71110547	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71110547T>A	ENST00000304954.3	+	2	97	c.11T>A	c.(10-12)tTt>tAt	p.F4Y		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	4						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGAAGAGTTTTCTTCTAGTT	0.284000													7	45					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40845514	40845514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40845514C>A	ENST00000264638.4	+	18	3169	c.2952C>A	c.(2950-2952)gaC>gaA	p.D984E	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	984	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACACGTGTGACTGTGACCTCA	0.587000													36	68					8.73648e-17	1.12908e-16	1	1	0
OSBPL7	114881	broad.mit.edu	37	17	45886548	45886548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45886548G>A	ENST00000007414.3	-	20	2255	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	OSBPL7_ENST00000392507.3_Silent_p.G688G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	688					lipid transport		lipid binding	p.G688G(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGAGCACAGCGCCCTGCACCT	0.647000													23	30					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230991457	230991457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230991457G>A	ENST00000366663.5	-	2	481	c.341C>T	c.(340-342)aCt>aTt	p.T114I	C1orf198_ENST00000523410.1_5'UTR|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.T76I	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCTTGCCAAGTTAGATCCTG	0.388000													31	112					0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12727892	12727892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12727892C>A	ENST00000396663.1	+	2	495	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARL4A_ENST00000356797.3_Missense_Mutation_p.L5M|ARL4A_ENST00000396664.2_Missense_Mutation_p.L5M|ARL4A_ENST00000404894.1_Missense_Mutation_p.L5M|ARL4A_ENST00000396662.1_Missense_Mutation_p.L5M	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	5					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGGGAATGGGCTGTCAGACCA	0.418000													24	242					7.38237e-10	9.02878e-10	1	1	0
FUT1	2523	broad.mit.edu	37	19	49253959	49253959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49253959C>A	ENST00000310160.3	-	4	1554	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	194					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTCTGCGCCTCTTCCCGAAGG	0.637000													5	174					0.014758	0.0152625	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21793078	21793078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21793078G>A	ENST00000206660.6	+	14	2064	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Silent_p.S650S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.S688S|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.S47S			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAGATTCGCTTTTCTTAC	0.502000													46	93					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42260974	42260974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42260974C>A	ENST00000392935.3	+	8	843	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	VDAC3_ENST00000521158.1_Missense_Mutation_p.L234I|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.L233I	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	233					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGAACTTCTCTCTCTGTAAG	0.398000													20	34					8.34094e-07	9.69005e-07	1	1	0
KLK4	9622	broad.mit.edu	37	19	51412622	51412622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51412622C>T	ENST00000324041.1	-	2	109	c.110G>A	c.(109-111)tGc>tAc	p.C37Y		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	37	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCGGGCTGCAGTCCTCGCC	0.642000													12	210					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67325309	67325309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67325309C>T	ENST00000304372.5	-	14	2523	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	823						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGTGACATTTCTGTGC	0.507000													12	33					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418000													5	100					0.184627	0.186383	1	1	0
C2orf40	84417	broad.mit.edu	37	2	106690484	106690484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:106690484G>A	ENST00000409944.1	+	4	393	c.162G>A	c.(160-162)atG>atA	p.M54I	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.M90I			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	90						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTCTCTACATGGGCTTTGACG	0.617000													17	53					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45296783	45296783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45296783A>T	ENST00000270279.3	+	8	1253	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V	CBLC_ENST00000341505.4_Missense_Mutation_p.E351V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	397					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AAGGGCTGGGAGGCCGTGAGT	0.637000			M		AML								7	11					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9784208	9784208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:9784208G>A	ENST00000304374.2	+	1	951	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	185					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGACCAGGCGGCCTCTTGGG	0.612000													15	38					0	0	1	0	0
CMTM4	146223	broad.mit.edu	37	16	66657318	66657318	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66657318T>G	ENST00000330687.4	-	3	632	c.451A>C	c.(451-453)Att>Ctt	p.I151L	CMTM4_ENST00000394106.2_Missense_Mutation_p.I151L|CMTM4_ENST00000563952.1_Missense_Mutation_p.I122L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	151	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGCAGCAATTTCTGCTCCG	0.507000													14	37					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867535	2867535	+	Missense_Mutation	SNP	C	C	T	rs150444751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2867535C>T	ENST00000545496.1	-	7	1030	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	ARSE_ENST00000381134.3_Missense_Mutation_p.V222I|ARSE_ENST00000540563.1_Missense_Mutation_p.V177I			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	222					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCACGAGACGGGTATCAGG	0.547000													17	18					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100909896	100909896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100909896G>A	ENST00000325455.5	-	8	4206	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	PGR_ENST00000263463.5_Missense_Mutation_p.P816L|PGR_ENST00000534013.1_Missense_Mutation_p.P324L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	918	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAATATCTTGGGTAATTGTGC	0.353000													21	59					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40108548	40108548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40108548G>A	ENST00000261435.6	+	5	1818	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	468						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCAAGTGGAGTCATTCTTAG	0.318000													18	38					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56231369	56231369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56231369C>T	ENST00000394182.1	-	3	299	c.300G>A	c.(298-300)tgG>tgA	p.W100*	MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*|MMP19_ENST00000322569.4_Nonsense_Mutation_p.W386*|MMP19_ENST00000409200.3_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	386					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GGTTGAGAGGCCAATAGAGAG	0.463000													17	44					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58614634	58614634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58614634G>A	ENST00000317147.5	-	12	1578	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P416S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P416S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	416					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGATCTCTGGATTTATAAGG	0.378000													24	34					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084699	176084699	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084699G>T	ENST00000310032.8	+	9	1228	c.999G>T	c.(997-999)taG>taT	p.*333Y	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Nonstop_Mutation_p.*330Y|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Nonstop_Mutation_p.*310Y	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	0						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aaaattggtagatttcacata	0.542000													18	35					3.51602e-12	4.4132e-12	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42329808	42329808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329808C>T	ENST00000342228.3	-	2	470	c.101G>A	c.(100-102)gGt>gAt	p.G34D	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G34D|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G34D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	34					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACGGCTGTACCAAAGGAGTT	0.478000													57	97					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263606	14263606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14263606G>A	ENST00000340736.6	-	20	3725	c.3428C>T	c.(3427-3429)aCa>aTa	p.T1143I	LPHN1_ENST00000361434.3_Missense_Mutation_p.T1138I|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGTCCCTGTGTAGTAGCG	0.622000													25	42					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119093569	119093569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119093569A>C	ENST00000328252.3	+	11	3563	c.3194A>C	c.(3193-3195)cAt>cCt	p.H1065P	PAPPA_ENST00000534838.1_Missense_Mutation_p.H103P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1065					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTTCCCAGCATGCCTGGTAC	0.453000													5	55					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127569379	127569379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127569379G>A	ENST00000354725.3	+	15	1860	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	556	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTTCTTGCTTGCAGGTAAGTC	0.483000													111	107					0	0	1	0	0
MINPP1	0	broad.mit.edu	37	10	89272941	89272941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89272941C>A	ENST00000371996.4	+	3	937	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.S98Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	299					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGTGTTAAATCTCCTTGGTGT	0.313000													6	64					0.000274275	0.000298791	1	1	0
LIPH	200879	broad.mit.edu	37	3	185236961	185236961	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185236961G>A	ENST00000296252.4	-	6	996	c.855C>T	c.(853-855)ggC>ggT	p.G285G	LIPH_ENST00000424591.2_Silent_p.G251G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	285					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTGTGACGTGCCGCAGCTGA	0.478000													10	83					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338574	220338574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220338574G>A	ENST00000312358.7	+	18	4528	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1466	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGCACCGCCCGAAACCG	0.647000													8	87					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078310	24078310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24078310G>A	ENST00000418390.2	+	4	1564	c.1293G>A	c.(1291-1293)atG>atA	p.M431I		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	431					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAACCATGTCTTTTGAAT	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	161					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004232	187004232	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004232C>A	ENST00000296795.2	+	4	1496	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	TLR3_ENST00000504367.1_Silent_p.S187S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	464					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTATCTTTCCTACAACAAGT	0.468000													36	52					7.04047e-22	9.28103e-22	1	1	0
PCDHGB2	0	broad.mit.edu	37	5	140741305	140741305	+	Missense_Mutation	SNP	C	C	T	rs1860251		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741305C>T	ENST00000522605.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCAGGCCCGCGACCAGGG	0.677000													3	43					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183683285	183683285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183683285G>A	ENST00000334444.6	-	13	2078	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	ABCC5_ENST00000265586.6_Missense_Mutation_p.T613M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	613	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCTAGAAGCGTCATCTAGGG	0.512000													12	42					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73066030	73066030	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73066030C>A	ENST00000429829.1	-	0	6558					NR_001564.2																						GAAAAAGGGCCTTGGTGATCA	0.493000													5	95					0.000602214	0.000649039	1	1	0
EPDR1	54749	broad.mit.edu	37	7	37960397	37960397	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37960397G>A	ENST00000559325.1	+	1	235	c.216G>A	c.(214-216)agG>agA	p.R72R	EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000199448.4_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCGGCAGAGGCCACCGAAGG	0.677000													25	22					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120177653	120177653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120177653C>T	ENST00000450251.1	+	5	1088	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP53_ENST00000274030.6_Missense_Mutation_p.R182W			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAATTTGTGCGGTACATTTC	0.313000													28	65					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77759556	77759556	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77759556A>G	ENST00000344720.5	+	3	1274	c.248A>G	c.(247-249)gAc>gGc	p.D83G	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.D109G	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	109					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATAGAAAGTGACACGGATCTC	0.423000													25	54					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33663726	33663726	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33663726T>C	ENST00000399362.4	-	11	1435	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.D128G|CLASP2_ENST00000333778.6_Missense_Mutation_p.D138G|CLASP2_ENST00000487200.1_Missense_Mutation_p.D134G|CLASP2_ENST00000313350.6_Missense_Mutation_p.D134G|CLASP2_ENST00000539981.1_Missense_Mutation_p.D113G|CLASP2_ENST00000468888.2_Missense_Mutation_p.D362G|CLASP2_ENST00000480013.1_Missense_Mutation_p.D128G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D361G|CLASP2_ENST00000482896.1_5'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	362										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAAAAAGCAATCATACTGTGC	0.368000													3	41					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465435	48465435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48465435C>A	ENST00000358536.4	-	3	855	c.586G>T	c.(586-588)Gct>Tct	p.A196S	PLXNB1_ENST00000358459.4_Missense_Mutation_p.A196S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A196S|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A196S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	196	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAAGGCAGCTTGGGGGTCG	0.662000													4	5					0.00024832	0.0002712	1	1	0
WRB	7485	broad.mit.edu	37	21	40765207	40765207	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40765207G>A	ENST00000333781.5	+	4	592		c.e4+1		WRB_ENST00000398753.1_Splice_Site|WRB_ENST00000466787.1_Splice_Site|WRB_ENST00000380708.1_Splice_Site|WRB_ENST00000541890.1_Splice_Site	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein							integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				AGAGTAGCAGGTAAGAATTTT	0.463000													12	17					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171426565	171426565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171426565C>T	ENST00000356327.5	-	11	1195	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	PLD1_ENST00000340989.4_Silent_p.E375E|PLD1_ENST00000342215.6_Silent_p.E375E|PLD1_ENST00000351298.4_Silent_p.E375E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	375					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGATAAAAATCTCTTCATTTG	0.338000													18	37					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113509925	113509925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113509925C>A	ENST00000416899.2	+	7	884	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MUSK_ENST00000189978.5_Missense_Mutation_p.S253Y|MUSK_ENST00000374448.4_Missense_Mutation_p.S253Y			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	253	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTCAGGTTTCTTCTGGGTCC	0.393000													60	75					3.39796e-24	4.50554e-24	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120466300	120466300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120466300G>A	ENST00000256646.2	-	26	5038	c.4819C>T	c.(4819-4821)Cgc>Tgc	p.R1607C	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1607	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGATCTGCGTGTCATCCTC	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				49	71					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77919936	77919936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77919936G>A	ENST00000529308.1	+	9	1780	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	USP35_ENST00000526425.1_Missense_Mutation_p.A238T|USP35_ENST00000441408.2_Missense_Mutation_p.A93T|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.A75T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	507					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCTCTCCGCATCCTGGAC	0.627000													45	65					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570806	104570806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104570806G>T	ENST00000551177.1	+	8	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	ASPG_ENST00000455920.2_Missense_Mutation_p.D307Y|ASPG_ENST00000546892.2_Missense_Mutation_p.D307Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	307	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGTGACCACAGACTATGCAGC	0.672000													6	8					3.59834e-05	4.01776e-05	1	1	0
ZNF226	7769	broad.mit.edu	37	19	44680813	44680813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44680813G>T	ENST00000590089.1	+	7	1765	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	ZNF226_ENST00000454662.2_Missense_Mutation_p.Q466H|ZNF226_ENST00000337433.5_Missense_Mutation_p.Q466H|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGCCCATCAGGGAGTTCACA	0.443000													7	55					5.18039e-06	5.91835e-06	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23398314	23398314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398314C>A	ENST00000379361.4	+	2	1818	c.958C>A	c.(958-960)Ctt>Att	p.L320I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	320	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCATCAATCTTACTGGTGG	0.517000													13	130					4.93089e-13	6.23885e-13	1	1	0
MSH3	4437	broad.mit.edu	37	5	79952298	79952298	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79952298G>T	ENST00000265081.6	+	2	386	c.306G>T	c.(304-306)aaG>aaT	p.K102N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	102	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAAAGTAAAGAAAGTCCAAC	0.408000								Mismatch excision repair (MMR)					26	40					1.66031e-10	2.04717e-10	1	1	0
RELN	5649	broad.mit.edu	37	7	103159852	103159852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103159852C>T	ENST00000428762.1	-	49	7939	c.7780G>A	c.(7780-7782)Gtt>Att	p.V2594I	RELN_ENST00000424685.2_Missense_Mutation_p.V2594I|RELN_ENST00000343529.5_Missense_Mutation_p.V2594I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2594					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAGAGAACACCTTGGTTA	0.408000													21	64					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131014841	131014841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131014841C>T	ENST00000307968.7	-	11	1145	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	FNIP1_ENST00000307954.8_Missense_Mutation_p.M365I|FNIP1_ENST00000511848.1_Missense_Mutation_p.M410I|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.M410I	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAATTCGTGGCATCGTGTAAA	0.358000													21	38					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603637	23603637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23603637C>T	ENST00000305877.8	+	4	2413	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	BCR_ENST00000359540.3_Silent_p.Y554Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	554	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGAGCTCTACGAGATCCACA	0.587000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								33	42					0	0	1	0	0
CCDC107	203260	broad.mit.edu	37	9	35660849	35660849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35660849G>T	ENST00000426546.2	+	5	583	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.E173*|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	173						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCTTCAGAACCAGGTGA	0.557000													14	205					1.15088e-07	1.35723e-07	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092966	151092966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092966G>T	ENST00000370340.3	+	3	1097	c.830G>T	c.(829-831)aGg>aTg	p.R277M	MAGEA4_ENST00000276344.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R277M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R277M			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	277	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCCAAGGGCTCTGGCT	0.552000													15	159					0.000219431	0.000240782	1	1	0
ARG1	383	broad.mit.edu	37	6	131904949	131904949	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131904949T>C	ENST00000368087.3	+	8	1009	c.870T>C	c.(868-870)acT>acC	p.T290T	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Silent_p.T298T|ARG1_ENST00000476845.1_Silent_p.T204T			P05089	ARGI1_HUMAN	arginase 1	290			T -> S (could be a polymorphism).		arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AAGAAGTAACTCGAACAGTGA	0.413000													6	50					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594701	30594701	+	Missense_Mutation	SNP	G	G	A	rs147472796		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30594701G>A	ENST00000395216.2	-	3	557	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZNF785_ENST00000470110.1_Missense_Mutation_p.A118V|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACTTCATGCGCCACCTCTTT	0.527000													39	58					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412964	63412964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63412964G>T	ENST00000330258.3	-	2	475	c.203C>A	c.(202-204)aCt>aAt	p.T68N	AMER1_ENST00000403336.1_Missense_Mutation_p.T68N|AMER1_ENST00000374869.3_Missense_Mutation_p.T68N	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ACTAGGCAGAGTACAGATACC	0.537000													5	54					0.00307968	0.00325696	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40587227	40587227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40587227C>T	ENST00000342449.3	-	32	3799	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1241K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1241K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1241	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTCAGGTTCGTTAAATGTT	0.328000													30	29					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617176	64617176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64617176G>A	ENST00000498707.1	-	16	2686	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R754W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	782	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCTGCCGCACATCAATA	0.463000													16	120					0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149772540	149772540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149772540G>A	ENST00000389942.5	-	6	1110	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A288V|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A288V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.A288V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	288						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GAGCTCGTCGGCCACCGCCAG	0.731000													7	11					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273719	210273719	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273719G>T	ENST00000537238.1	+	7	1354	c.963G>T	c.(961-963)gtG>gtT	p.V321V	SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Silent_p.V359V|SYT14_ENST00000534859.1_Silent_p.V359V|SYT14_ENST00000422431.1_Silent_p.V404V|SYT14_ENST00000367015.1_Silent_p.V321V|SYT14_ENST00000367019.1_Silent_p.V359V|SYT14_ENST00000472886.1_Silent_p.V359V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	359	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAAGATTGTGGGGGAAAAGA	0.313000													4	67					0.00024832	0.0002712	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153069756	153069756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069756G>A	ENST00000164640.4	-	8	1553	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDZD4_ENST00000544474.1_Silent_p.S345S|PDZD4_ENST00000393758.2_Silent_p.S379S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	454						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGATGTCGGACAGCTCGT	0.657000													4	48					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96006077	96006077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96006077C>T	ENST00000260766.3	+	8	3429	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	PLCE1_ENST00000371380.2_Missense_Mutation_p.T932M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T624M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T624M	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	932					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTAGCCTGACGGAAGGGGTC	0.478000													38	54					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746001	19746001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19746001G>A	ENST00000203556.4	-	16	1719	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_ENST00000445806.2_Missense_Mutation_p.R499C|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.R502C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	528					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582000													8	9					0	0	1	0	0
CRB3	0	broad.mit.edu	37	19	6465560	6465560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6465560G>T	ENST00000598494.1	+	3	618	c.87G>T	c.(85-87)caG>caT	p.Q29H	CRB3_ENST00000356762.3_Missense_Mutation_p.Q29H|CRB3_ENST00000600229.1_Missense_Mutation_p.Q29H|CRB3_ENST00000308243.7_Missense_Mutation_p.Q29H			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	29					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCACAGTACAGACCACTTCTG	0.532000													32	285					1.56442e-22	2.06521e-22	1	1	0
ZNF134	7693	broad.mit.edu	37	19	58131538	58131538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58131538T>C	ENST00000396161.5	+	3	361	c.51T>C	c.(49-51)caT>caC	p.H17H	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTGTTGGCATGAAGTGAAGG	0.458000													8	80					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164880	42164880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42164880G>A	ENST00000444063.1	+	15	1931	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R605H|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.R668H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R668H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R600H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	600					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCAGCCCGCAAGAAGAAC	0.637000													5	4					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78365463	78365463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365463G>T	ENST00000238561.5	+	6	702	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ADCK1_ENST00000341211.5_Missense_Mutation_p.K133N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	208	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGCTGTGAAGCAGCTGTTCC	0.507000													48	58					2.29192e-23	3.03378e-23	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077411	57077411	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077411T>C	ENST00000532437.1	-	5	3085	c.2774A>G	c.(2773-2775)gAg>gGg	p.E925G	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E925G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	925	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGTCCTGCTCATCGGCATC	0.572000													11	146					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91940432	91940432	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91940432C>A	ENST00000375807.3	+	3	344	c.273C>A	c.(271-273)gcC>gcA	p.A91A	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000534113.2_Silent_p.A23A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCCATATGCCTATTCTCCTT	0.398000													22	182					0.000229342	0.000251627	1	1	0
CLEC4E	26253	broad.mit.edu	37	12	8689848	8689848	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8689848A>G	ENST00000299663.3	-	4	400	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	79						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AATGGACAACAATTCTTGACT	0.443000													21	49					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73808617	73808617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73808617G>A	ENST00000293218.3	+	5	801	c.801G>A	c.(799-801)gcG>gcA	p.A267A	UNK_ENST00000589666.1_Silent_p.A191A			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	191							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGGCTGCGAGCCATGCCA	0.607000													4	23					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110391030	110391030	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110391030G>T	ENST00000519681.1	+	8	847	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PAK3_ENST00000372010.1_Missense_Mutation_p.K129N|PAK3_ENST00000417227.1_Missense_Mutation_p.K135N|PAK3_ENST00000360648.4_Missense_Mutation_p.K150N|PAK3_ENST00000372007.4_Missense_Mutation_p.K114N|PAK3_ENST00000518291.1_Missense_Mutation_p.K150N|PAK3_ENST00000425146.1_Missense_Mutation_p.K114N|PAK3_ENST00000446737.1_Missense_Mutation_p.K114N|PAK3_ENST00000262836.4_Missense_Mutation_p.K129N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	129	Autoregulatory region (By similarity).|Linker.			VLDV -> CSRC (in Ref. 2).	multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGAAGAAGAACCCACAAG	0.408000										TSP Lung(19;0.15)			32	64					5.45727e-16	7.024e-16	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94049657	94049657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94049657G>A	ENST00000370244.1	-	8	1239	c.951C>T	c.(949-951)agC>agT	p.S317S	BCAR3_ENST00000370247.3_Silent_p.S226S|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.S317S|BCAR3_ENST00000370243.1_Silent_p.S317S|BCAR3_ENST00000539242.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	317					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGCGGGCTGGCTACCACTCT	0.453000													37	27					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26357053	26357053	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26357053C>A	ENST00000374280.3	+	4	1935	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	356					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACTTCTCCTCAGTGGAGA	0.597000													8	65					0.000274275	0.000298791	1	1	0
DYNC1LI2	1783	broad.mit.edu	37	16	66762943	66762943	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66762943C>A	ENST00000258198.2	-	9	1307	c.1101_splice	c.e9+1	p.Q367_splice	DYNC1LI2_ENST00000443351.2_Splice_Site_p.Q290_splice|DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	367					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTCTTCTTACCTGTTGCTTCA	0.498000											OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	138					2.80697e-09	3.39963e-09	1	1	0
PCDHB2	0	broad.mit.edu	37	5	140475745	140475745	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475745C>A	ENST00000194155.4	+	1	1519	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		457					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.622000													10	82					2.74318e-10	3.37541e-10	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43316061	43316061	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43316061C>T	ENST00000361428.2	-	6	3150		c.e6+1		ZNF318_ENST00000318149.3_Splice_Site	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGTTGTTACCTTGTTGGAG	0.368000													66	131					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144871767	144871767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871767C>T	ENST00000369359.4	-	35	5641	c.5603G>A	c.(5602-5604)tGt>tAt	p.C1868Y	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1817Y|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1732Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1732					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGTCTCACAGCAGCCAAG	0.577000			T	PDGFRB	MPD								6	130					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215453	57215453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57215453T>C	ENST00000205214.6	-	11	2644	c.2464A>G	c.(2464-2466)Aag>Gag	p.K822E	AASDH_ENST00000502617.1_Missense_Mutation_p.K822E|AASDH_ENST00000451613.1_Missense_Mutation_p.K822E|AASDH_ENST00000434343.2_Missense_Mutation_p.K337E|AASDH_ENST00000513376.1_Missense_Mutation_p.K722E|AASDH_ENST00000602986.1_Missense_Mutation_p.K669E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	822					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCACACTTAGATACACAT	0.358000													9	92					0	0	1	0	0
AVPR2	0	broad.mit.edu	37	X	153171565	153171565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171565G>A	ENST00000358927.2	+	3	814	c.605G>A	c.(604-606)cGt>cAt	p.R202H	AVPR2_ENST00000370049.1_Missense_Mutation_p.R202H|AVPR2_ENST00000337474.5_Missense_Mutation_p.R202H			P30518	V2R_HUMAN	arginine vasopressin receptor 2	202			R -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.R202H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCCTGGGGCCGTCGCACCTAT	0.632000													10	56					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133123	133123	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:133123C>T	ENST00000219431.4	+	4	619	c.388C>T	c.(388-390)Cca>Tca	p.P130S	MPG_ENST00000397817.1_Missense_Mutation_p.P113S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	130					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATACCTGGGGCCAGAGGATGA	0.622000								Base excision repair (BER), DNA glycosylases					82	113					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707891	50707891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50707891G>A	ENST00000330943.4	-	4	548	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	126	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562000													5	57					0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343902	113343902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343902C>T	ENST00000409719.1	+	3	322	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.A90V			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	90	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTGCAGTGCGCTGAGCAGGTG	0.577000													12	26					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979412	58979412	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58979412C>T	ENST00000361050.3	-	1	1012	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGAAATGCAGCGGCAGGCCAG	0.557000													9	20					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100016806	100016806	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100016806A>C	ENST00000398027.2	-	5	536	c.289T>G	c.(289-291)Tca>Gca	p.S97A	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S97A|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	97							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAAGACTTGATTTTTCCTGC	0.453000													33	85					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220045793	220045793	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220045793T>C	ENST00000430297.2	+	6	786	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	217						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTTGAGTATCCTGCTGTGG	0.512000													11	127					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5688922	5688922	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5688922T>G	ENST00000396847.3	-	5	999	c.764A>C	c.(763-765)aAa>aCa	p.K255T	TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.K255T|TRIM5_ENST00000380027.1_Missense_Mutation_p.K255T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Missense_Mutation_p.K255T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	255					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CACATACCTTTTTATGACGCC	0.408000													25	47					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653192	3653192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3653192G>A	ENST00000356518.2	-	13	1634	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.R465C|ADAM33_ENST00000350009.2_Missense_Mutation_p.R465C	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	465	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCAGCGCACGCAGCAG	0.657000													21	31					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6540085	6540085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6540085C>T	ENST00000321612.6	-	22	2781	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	877					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCACAGCCTCAATATTTG	0.458000													30	50					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612936	85612936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85612936G>A	ENST00000322366.6	-	59	9408	c.9001C>T	c.(9001-9003)Ctc>Ttc	p.L3001F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L3018F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3018						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTTCTTTGAGTTCTAGAAAA	0.338000													15	31					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218899	180218899	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218899A>G	ENST00000446023.2	-	3	1823	c.1073T>C	c.(1072-1074)tTc>tCc	p.F358S	MGAT1_ENST00000333055.3_Missense_Mutation_p.F358S|MGAT1_ENST00000427865.2_Missense_Mutation_p.F358S|MGAT1_ENST00000307826.4_Missense_Mutation_p.F358S|MGAT1_ENST00000393340.3_Missense_Mutation_p.F358S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGCGAGGAAATCTCGGTC	0.587000													4	60					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129430	68129430	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129430C>A	ENST00000585558.1	+	4	1695	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	KCNJ16_ENST00000392671.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P440H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P401H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	401					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGGGAAACACCTTATCAGAAA	0.428000													5	60					1	1	1	1	0
SNRNP70	6625	broad.mit.edu	37	19	49593547	49593547	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593547G>T	ENST00000221448.5	+	3	343		c.e3-1		SNRNP70_ENST00000598441.1_Splice_Site	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)						nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTTGTTCCCAGGACCCTCGAG	0.552000													17	22					2.4624e-09	2.98951e-09	1	1	0
MARS	4141	broad.mit.edu	37	12	57891963	57891963	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891963A>C	ENST00000262027.5	+	8	928	c.794A>C	c.(793-795)aAt>aCt	p.N265T	MARS_ENST00000315473.5_Missense_Mutation_p.N31T|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	265					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGAGAAAGGAATGTGCTCATC	0.537000													6	50					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990590	63990590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990590G>A	ENST00000279227.5	+	14	1848	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	FERMT3_ENST00000345728.5_Missense_Mutation_p.V581M	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	585					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTTGGCCGTGGGCGACGT	0.612000													34	48					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103111563	103111563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103111563G>A	ENST00000374902.4	-	2	259	c.83C>T	c.(82-84)gCt>gTt	p.A28V	TEX10_ENST00000537512.1_Intron|TEX10_ENST00000535814.1_Missense_Mutation_p.A31V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	28						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAGGAGTAGCATTTTGTAA	0.318000													12	27					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694644	49694644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694644G>A	ENST00000296452.4	+	5	7769	c.7655G>A	c.(7654-7656)gGc>gAc	p.G2552D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2552					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGTAGTGGCATCAAGAAG	0.637000													12	25					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37728878	37728878	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37728878G>C	ENST00000330843.4	-	4	3454	c.3442C>G	c.(3442-3444)Ctc>Gtc	p.L1148V	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1148					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCTGGAGGAGTGGCTTCCTC	0.552000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	66					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72130083	72130083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72130083G>A	ENST00000268482.3	+	2	536	c.27G>A	c.(25-27)tcG>tcA	p.S9S	DHX38_ENST00000536867.1_Silent_p.S9S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGATGCCTCGATCCATCGAT	0.517000													19	32					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126662837	126662837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126662837T>C	ENST00000359653.4	+	5	1668	c.1297T>C	c.(1297-1299)Tat>Cat	p.Y433H		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	433	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGTCGACTGTATGCACTTTG	0.438000													38	68					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604792	59604792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59604792C>T	ENST00000541311.1	-	6	885	c.651G>A	c.(649-651)aaG>aaA	p.K217K	GIF_ENST00000257248.2_Silent_p.K242K			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	242					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTCCATTCCTTTTTAGATG	0.448000													18	25					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138969195	138969195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969195G>A	ENST00000288561.8	+	15	3544	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	UBN2_ENST00000473989.2_Missense_Mutation_p.G1182R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1182	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAACTCAAGCGGAGCTAATAG	0.493000													34	26					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274326	51274326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274326C>T	ENST00000270590.4	+	1	606	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	157						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTGTGCAGCGGGCGAGCTG	0.597000													7	63					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62545441	62545441	+	Nonsense_Mutation	SNP	C	C	T	rs11540347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:62545441C>T	ENST00000448257.2	+	4	415	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CDK1_ENST00000316629.4_Nonsense_Mutation_p.Q72*|CDK1_ENST00000373809.2_Nonsense_Mutation_p.Q72*|CDK1_ENST00000395284.3_Nonsense_Mutation_p.Q72*			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	72	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TGTGCTTATGCAGGATTCCAG	0.368000													24	203					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136901413	136901413	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901413G>T	ENST00000303407.7	-	10	1862	c.1677C>A	c.(1675-1677)gcC>gcA	p.A559A	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	559						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGTCGTAGGAGGCAGATGCCT	0.612000			T	C15orf55	lethal midline carcinoma of young people								4	41					0.000602214	0.000649039	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110784072	110784072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110784072G>A	ENST00000395494.2	+	19	3408	c.2845G>A	c.(2845-2847)Gtg>Atg	p.V949M	ATP2A2_ENST00000539276.2_Missense_Mutation_p.V976M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V976M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	976					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCTTGCCCGTGATTCTCAT	0.557000													31	54					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128627876	128627876	+	Silent	SNP	C	C	T	rs143991763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128627876C>T	ENST00000308982.7	+	14	1500	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	473						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCTTCGGGACTCCCTGGGCC	0.587000													12	19					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828939	61828939	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61828939G>T	ENST00000280772.1	-	37	11891	c.11700C>A	c.(11698-11700)gcC>gcA	p.A3900A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3900					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTAGTAAGGGCTTTGGTTT	0.393000													25	218					2.39556e-15	3.07139e-15	1	1	0
GRIA4	0	broad.mit.edu	37	11	105623793	105623793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105623793G>A	ENST00000393127.2	+	4	780	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000530497.1_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTCTGCAGCGCCTTACATAT	0.463000													7	86					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57302429	57302429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57302429C>T	ENST00000288266.3	+	21	2044	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	633	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTTTAGGATCGTAGGGCATC	0.269000													5	8					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52379220	52379220	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52379220T>C	ENST00000296585.5	+	27	3338	c.3195T>C	c.(3193-3195)gtT>gtC	p.V1065V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1065					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAGACGTTCACATGAAAG	0.358000													18	29					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093325	69093325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093325C>T	ENST00000295379.1	-	2	871	c.713G>A	c.(712-714)cGg>cAg	p.R238Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	238					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TATTTCTAGCCGTCCACTGCT	0.498000													15	32					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36109991	36109991	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36109991T>C	ENST00000377966.3	+	15	2369	c.1803T>C	c.(1801-1803)tgT>tgC	p.C601C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	601						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAATGTCTGTTCTTGTTTTG	0.438000													76	96					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90273032	90273032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90273032C>T	ENST00000469640.2	+	18	2288	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	DAPK1_ENST00000358077.5_Missense_Mutation_p.A638V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A638V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A638V|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Missense_Mutation_p.A638V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	638					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCGTTGAGGCGCTGACCACG	0.627000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	4					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	651256	651256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:651256C>T	ENST00000255622.6	+	10	1417	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	PDE6B_ENST00000429163.2_Silent_p.C179C|PDE6B_ENST00000496514.1_Silent_p.C458C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	458					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACGTGAAGTGCGACAGGGACG	0.617000													19	41					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620783	41620783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41620783C>T	ENST00000216237.5	+	10	1387	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	410					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGTGATGCCGTTCCTTAC	0.572000													9	26					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569880	77569880	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569880A>C	ENST00000416283.2	+	13	1800	c.1674A>C	c.(1672-1674)acA>acC	p.T558T	PHTF2_ENST00000248550.7_Silent_p.T592T|PHTF2_ENST00000422959.2_Silent_p.T558T|PHTF2_ENST00000307305.8_Silent_p.T554T|PHTF2_ENST00000275575.7_Silent_p.T554T	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACATTTAACATCTGCAAGGA	0.338000													7	82					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419996	180419996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180419996T>C	ENST00000342868.6	+	2	417	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	78					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTAAGCAGATGCCACAGTAT	0.527000													11	17					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357131	36357131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36357131G>T	ENST00000360202.5	+	15	2062	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	KIRREL2_ENST00000586102.2_Missense_Mutation_p.G602C|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G587C|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	622					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGAGGTCTCTTCCT	0.602000													6	58					8.12818e-05	8.99451e-05	1	1	0
FAXDC2	10826	broad.mit.edu	37	5	154200982	154200982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200982G>A	ENST00000326080.5	-	8	1106	c.683C>T	c.(682-684)tCc>tTc	p.S228F	FAXDC2_ENST00000517938.1_Missense_Mutation_p.S205F	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		TAGCATGTTGGAGACCTGCAA	0.522000													5	13					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6736973	6736973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6736973G>A	ENST00000405858.1	-	4	776	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF12_ENST00000342651.5_Missense_Mutation_p.P79S|ZNF12_ENST00000404360.1_Missense_Mutation_p.P43S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACACACCTGGATAGCTCTGA	0.433000													4	19					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000441517.2_Silent_p.D419D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701000													3	9					0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67428264	67428264	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67428264A>T	ENST00000305454.3	+	6	1018	c.577A>T	c.(577-579)Aag>Tag	p.K193*	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	193										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCACAAGAAGAAGTCTGAATA	0.577000													10	18					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049406	175049406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175049406C>A	ENST00000239462.4	+	4	1005	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	298	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACTACCCCCTGGGGAAGGA	0.577000													12	44					6.40141e-05	7.11719e-05	1	1	0
ALAS1	211	broad.mit.edu	37	3	52238733	52238733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52238733G>A	ENST00000394965.2	+	6	962	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ALAS1_ENST00000469224.1_Missense_Mutation_p.R201H|ALAS1_ENST00000310271.2_Missense_Mutation_p.R201H|ALAS1_ENST00000484952.1_Missense_Mutation_p.R201H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	201					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTATGATCGTTTCTTTGAG	0.383000													16	29					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20851712	20851712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20851712C>T	ENST00000262715.5	-	26	3842	c.3802G>A	c.(3802-3804)Gct>Act	p.A1268T	TEP1_ENST00000556935.1_Missense_Mutation_p.A1160T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACCTATCAGCCCCATCGATG	0.587000													12	26					0	0	1	0	0
CREB1	1385	broad.mit.edu	37	2	208440061	208440061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208440061C>T	ENST00000432329.2	+	7	864	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	CREB1_ENST00000430624.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000536726.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000353267.3_Nonsense_Mutation_p.Q191*|CREB1_ENST00000539789.1_3'UTR	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	205					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGGGCCTGCAAACATTAAC	0.473000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								10	86					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917326	97917326	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917326A>G	ENST00000534948.1	+	0	2104							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGTTTCATGAAGACTGCTGTA	0.423000													24	35					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33592888	33592888	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33592888C>A	ENST00000399362.4	-	30	3384		c.e30-1		CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000468888.2_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2											breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACCTTCACCTGCAGAGGAA	0.383000													6	35					0.248553	0.25002	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21830380	21830380	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21830380G>T	ENST00000216297.2	-	15	2107	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	590					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTCGCTTCAGGGTTAGGAAA	0.433000													3	30					0.115264	0.117355	1	1	0
POM121C	100101267	broad.mit.edu	37	7	75051127	75051127	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75051127A>G	ENST00000453279.2	-	13	3272	c.2408T>C	c.(2407-2409)tTc>tCc	p.F803S	POM121C_ENST00000257665.5_Missense_Mutation_p.F1045S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1045	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCTGCACCGAAGGAGAAGAC	0.657000													15	44					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460590	113460590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113460590G>T	ENST00000538576.1	-	4	1269	c.438C>A	c.(436-438)gcC>gcA	p.A146A	SLC16A1_ENST00000433570.4_Silent_p.A146A|SLC16A1_ENST00000369626.3_Silent_p.A146A	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	146					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCAGTCCGTTGGCCAATGGTC	0.478000													22	26					3.01185e-09	3.6461e-09	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120889207	120889207	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120889207C>A	ENST00000263713.5	+	18	1729	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	EPB41L5_ENST00000452780.1_Silent_p.T505T|EPB41L5_ENST00000443902.2_Silent_p.T505T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	505						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAAAAGACACCTCAGAGAAGC	0.438000													15	38					5.35267e-07	6.25286e-07	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11888483	11888483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11888483C>A	ENST00000357901.4	+	2	163	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGGCTTTGCTGGGTCCATC	0.433000													5	30					0.014758	0.0152625	1	1	0
ZNF259	8882	broad.mit.edu	37	11	116652883	116652883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116652883C>T	ENST00000227322.3	-	12	1229	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	390					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGGTCCATCTTCTGGCTAA	0.483000													22	23					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16642099	16642099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642099G>T	ENST00000306999.2	-	9	1290	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	349						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGTAAACCAGTGTGTTTTCT	0.368000													9	166					3.09899e-07	3.63227e-07	1	1	0
UBAP1	51271	broad.mit.edu	37	9	34241252	34241252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34241252C>T	ENST00000536252.1	+	5	627	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	UBAP1_ENST00000379186.4_Missense_Mutation_p.R77W|UBAP1_ENST00000543944.1_Missense_Mutation_p.R113W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R141W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R77W|UBAP1_ENST00000540348.1_Missense_Mutation_p.R77W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R77W	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	77						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGAAGCCGAGCGGGAAGCAGA	0.458000													52	62					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183792952	183792952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183792952G>A	ENST00000360982.2	-	30	3849	c.3091C>T	c.(3091-3093)Cat>Tat	p.H1031Y	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H1025Y|NCKAP1_ENST00000478449.1_5'UTR	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1025					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGCAATGCCCTGAGAAA	0.383000													23	45					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46765670	46765670	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46765670G>A	ENST00000262738.3	-	26	7790	c.7791C>T	c.(7789-7791)taC>taT	p.Y2597Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2597					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCGTAGCCCTGGG	0.637000													11	33					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866174	100866174	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100866174G>A	ENST00000358544.2	+	56	10743	c.10632G>A	c.(10630-10632)ttG>ttA	p.L3544L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3519L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3544					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAGACTTTGTTTGACACCT	0.478000													36	63					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820241	43820241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43820241C>A	ENST00000382031.1	+	5	7315	c.7284C>A	c.(7282-7284)ccC>ccA	p.P2428P	MAP1A_ENST00000399453.1_Silent_p.P2190P|MAP1A_ENST00000300231.5_Silent_p.P2190P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2190						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCGGCACCCTGTGGCTCCC	0.637000													11	160					2.27111e-07	2.66951e-07	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158514936	158514936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158514936G>A	ENST00000367121.3	+	27	3867	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000355585.4_Intron|SYNJ2_ENST00000367112.1_Intron			O15056	SYNJ2_HUMAN	synaptojanin 2	0	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTTTGCTCTCGCTCTCAAGCT	0.488000													31	52					0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10369091	10369091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10369091C>T	ENST00000393733.2	+	7	582	c.555C>T	c.(553-555)gaC>gaT	p.D185D	MRPL4_ENST00000588502.1_Silent_p.D184D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.D185D|MRPL4_ENST00000253099.6_Silent_p.D185D|MRPL4_ENST00000590669.1_Silent_p.D185D			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	185					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCCACCAGGACGACCTGCACA	0.637000													29	41					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49721811	49721811	+	Missense_Mutation	SNP	C	C	T	rs138155786		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49721811C>T	ENST00000449682.2	-	17	2313	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	637	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACACGTCCTCGGTGCTTGAT	0.597000													4	56					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68042713	68042713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68042713G>A	ENST00000329153.5	+	16	2475	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	781	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTGGCACCAAGCATGAAAAGG	0.547000													16	40					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794945	229794945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794945G>A	ENST00000258243.2	+	10	4612	c.4476G>A	c.(4474-4476)tcG>tcA	p.S1492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1492						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCGGGCCTCGCTGCAGCCGG	0.502000													79	142					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141659	31141659	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31141659C>T	ENST00000543774.2	+	9	1319	c.984C>T	c.(982-984)taC>taT	p.Y328Y	KAT8_ENST00000448516.2_Silent_p.Y328Y|KAT8_ENST00000219797.4_Silent_p.Y328Y			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	328	Acetyl-CoA binding.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GCCGCGGCTACGGGAAGTTCC	0.637000													15	40					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081244	7081244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7081244A>T	ENST00000299481.4	+	9	3099	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	918					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGGAGTGAAGCTTCTGTGT	0.423000													32	152					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89270077	89270077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89270077C>T	ENST00000370521.3	+	9	1644	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	PKN2_ENST00000316005.7_Missense_Mutation_p.R429C|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Missense_Mutation_p.R103C|PKN2_ENST00000370505.3_Missense_Mutation_p.R272C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	429	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		atCCTAGTCACGTGAACTGGA	0.318000													12	29					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123335813	123335813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123335813C>T	ENST00000253083.4	+	7	671	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	182					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGTTTGATTACATGGATTGTG	0.527000													50	84					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152553954	152553954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152553954G>T	ENST00000305097.3	+	1	1219	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	128					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517000													37	45					7.63091e-17	9.86748e-17	1	1	0
SNX25	83891	broad.mit.edu	37	4	186283234	186283234	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186283234G>A	ENST00000504273.1	+	17	2610	c.2316G>A	c.(2314-2316)caG>caA	p.Q772Q	SNX25_ENST00000264694.8_Silent_p.Q772Q|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	772					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAGAGCACAGCAAAAGCTGC	0.453000													9	10					0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48772384	48772384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48772384G>T	ENST00000376509.4	-	4	697	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	170	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						AGGTCTATCAGGATGTTCTCA	0.517000													4	42					0.184627	0.186383	1	1	0
PSG11	5680	broad.mit.edu	37	19	43529131	43529131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43529131C>A	ENST00000401740.1	-	2	245	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G48W			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATCCTTCCCCTCGGACACT	0.473000													80	116					5.42381e-49	7.33307e-49	1	1	0
TMEM184C	55751	broad.mit.edu	37	4	148546069	148546069	+	Missense_Mutation	SNP	C	C	T	rs142288581		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148546069C>T	ENST00000296582.3	+	4	980	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMEM184C_ENST00000508208.1_Missense_Mutation_p.R136W	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCTAACTAACCGGTATCCAAA	0.383000													47	63					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151011359	151011359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151011359C>T	ENST00000295294.7	+	4	653	c.44C>T	c.(43-45)aCt>aTt	p.T15I	BNIPL_ENST00000368931.3_Missense_Mutation_p.T97I	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	97					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAGTCTGACTAAGGGGCCT	0.582000													5	48					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18665341	18665341	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18665341T>C	ENST00000379984.3	-	4	336	c.296A>G	c.(295-297)aAc>aGc	p.N99S	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	99	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGGCCTTGTTTGCAGTCCA	0.532000													26	47					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31684026	31684026	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31684026G>A	ENST00000261592.5	-	4	921	c.624C>T	c.(622-624)aaC>aaT	p.N208N	NOL4_ENST00000535475.1_Silent_p.N53N|NOL4_ENST00000538587.1_Silent_p.N134N|NOL4_ENST00000589544.1_Silent_p.N208N|NOL4_ENST00000269185.4_Silent_p.N94N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	208						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCTGTGAGTTTAGCAGCT	0.383000													32	40					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476767	476767	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:476767A>G	ENST00000264938.3	-	12	1790	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V585A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	594	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCCAGGCAGACAGCGCTGAC	0.657000													6	13					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78090861	78090861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78090861G>A	ENST00000302262.3	+	16	2503	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	GAA_ENST00000390015.3_Missense_Mutation_p.E762K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	762					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGGAAGGCCGAAGTGACTGG	0.647000													6	18					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193812	139193812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139193812G>T	ENST00000274710.3	+	4	1084	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	293	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632000													5	98					0.000602214	0.000649039	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58024986	58024986	+	Missense_Mutation	SNP	G	G	A	rs141063083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58024986G>A	ENST00000341156.4	-	3	964	c.380C>T	c.(379-381)tCg>tTg	p.S127L	B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S127L|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	127					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGTACCTCGACAGAAAGGC	0.587000													13	261					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894747	145894747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145894747C>T	ENST00000311104.2	-	1	1006	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACTCTTCCGACATCACAA	0.478000													10	16					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33813498	33813498	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33813498G>A	ENST00000403368.1	-	4	495	c.426C>T	c.(424-426)gtC>gtT	p.V142V	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Silent_p.V142V|FAM98A_ENST00000441530.2_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCTTGAAAGACCTCACTAC	0.413000													62	78					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154127368	154127368	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154127368C>T	ENST00000368559.3	-	1	224	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NUP210L_ENST00000271854.3_Silent_p.E51E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	51						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCGGCCTGGCTCTCGGCCGA	0.587000													20	31					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42821421	42821421	+	Missense_Mutation	SNP	C	C	T	rs138499464		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42821421C>T	ENST00000314073.5	+	8	2167	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664V					GLTSCR1-like																		TTAGGAACCGCACAACCACAG	0.423000													28	38					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4697661G>A	ENST00000262960.9	-	11	1354	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000598800.1_Silent_p.I330I|DPP9_ENST00000594671.1_Silent_p.I330I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632000													8	16					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445743	150445743	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445743G>T	ENST00000401000.4	+	10	4306	c.4241G>T	c.(4240-4242)aGg>aTg	p.R1414M	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1440M			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1440	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGAGACCCAGGCCACCTTTT	0.517000													21	78					6.33239e-15	8.10486e-15	1	1	0
RMDN2	151393	broad.mit.edu	37	2	38178566	38178566	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38178566C>A	ENST00000407257.1	+	2	355	c.208C>A	c.(208-210)Cca>Aca	p.P70T	RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P70T|RMDN2_ENST00000234195.3_Missense_Mutation_p.P70T|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		TGTATCAAGTCCATCTTTCTC	0.343000													32	60					1.30897e-18	1.70928e-18	1	1	0
TPCN1	53373	broad.mit.edu	37	12	113724881	113724881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113724881G>A	ENST00000550785.1	+	20	2001	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	TPCN1_ENST00000541517.1_Missense_Mutation_p.R611H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R471H|TPCN1_ENST00000335509.6_Missense_Mutation_p.R539H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGGTCCTGCGCCCCCTCCAG	0.612000													34	54					0	0	1	0	0
CXCR4	0	broad.mit.edu	37	2	136872919	136872919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136872919G>A	ENST00000409817.1	-	1	894	c.591C>T	c.(589-591)gaC>gaT	p.D197D	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.D193D	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	193	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CCACCCACAAGTCATTGGGGT	0.493000													35	36					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035730	86035730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86035730G>A	ENST00000414626.2	+	6	1842	c.953G>A	c.(952-954)gGa>gAa	p.G318E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G338E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	338					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTGACTATGGAAACAGAAAA	0.328000													38	45					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377525	230377525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230377525C>T	ENST00000341772.4	-	6	1255	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	374	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTGAAATTGCTCCCATCTTG	0.423000													53	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179483176	179483176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483176A>C	ENST00000589042.1	-	252	47233	c.47009T>G	c.(47008-47010)tTt>tGt	p.F15670C	TTN_ENST00000460472.2_Missense_Mutation_p.F6605C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F13102C|TTN_ENST00000359218.5_Missense_Mutation_p.F6730C|TTN_ENST00000342175.6_Missense_Mutation_p.F6797C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F14029C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14029	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATCAAATGTTTCTGT	0.388000													22	38					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149903850	149903850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149903850G>T	ENST00000439741.2	-	12	1359	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	MTMR11_ENST00000406732.3_Missense_Mutation_p.S342Y|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.S298Y|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	370	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTATTACAGAACGAACCCT	0.478000													7	16					1.06961e-07	1.26574e-07	1	1	0
MFAP1	4236	broad.mit.edu	37	15	44107158	44107158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44107158C>A	ENST00000267812.3	-	3	646	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	138	Poly-Glu.					microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATCAATTTCCTCCTCCTCTT	0.408000													48	85					7.34454e-26	9.77834e-26	1	1	0
GPR132	29933	broad.mit.edu	37	14	105517471	105517471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517471C>T	ENST00000329797.3	-	4	1914	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	GPR132_ENST00000392585.2_Missense_Mutation_p.V326I|GPR132_ENST00000539291.2_Missense_Mutation_p.V335I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	335					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCCTGGTGACGTCTGTCTTC	0.612000													17	32					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43864431	43864431	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43864431C>T	ENST00000378009.4	+	0	795				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGACCTGTCATCGGGGGAC	0.552000													3	13					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960018	33960018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960018G>T	ENST00000361328.3	+	8	2227	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	692					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCTTCTGAAGAGGACTTAGA	0.463000													8	83					7.48243e-07	8.70085e-07	1	1	0
PTPN3	0	broad.mit.edu	37	9	112170621	112170621	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112170621T>G	ENST00000412145.1	-	12	3775	c.1222A>C	c.(1222-1224)Agg>Cgg	p.R408R	PTPN3_ENST00000374541.2_Silent_p.R539R|PTPN3_ENST00000262539.3_Silent_p.R385R|PTPN3_ENST00000394827.3_Silent_p.R7R|PTPN3_ENST00000446349.1_Silent_p.R363R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	539					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTTTATCCTTGATACCACA	0.338000													5	65					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99800141	99800141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99800141G>A	ENST00000426455.1	+	25	3035	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	STAG3_ENST00000317296.5_Silent_p.G876G|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Silent_p.G818G			Q9UJ98	STAG3_HUMAN	stromal antigen 3	876					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTAGCCGGGTTCTGCAAGC	0.512000													137	116					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839862	40839862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40839862G>A	ENST00000264638.4	+	8	1386	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	390	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCGCTTCCGCACCTGGGAC	0.642000													23	50					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135515004	135515004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135515004C>T	ENST00000341911.5	+	7	990	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MYB_ENST00000442647.2_Missense_Mutation_p.A264V|MYB_ENST00000420123.2_Missense_Mutation_p.A240V|MYB_ENST00000316528.8_Missense_Mutation_p.A264V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.A264V|MYB_ENST00000533624.1_Missense_Mutation_p.A264V|MYB_ENST00000534044.1_Missense_Mutation_p.A264V|MYB_ENST00000527615.1_Missense_Mutation_p.A264V|MYB_ENST00000367814.4_Missense_Mutation_p.A264V|MYB_ENST00000525369.1_Missense_Mutation_p.A264V|MYB_ENST00000528774.1_Missense_Mutation_p.A264V	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	264					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCCTGTAGCGTTACATGTA	0.448000			T	NFIB	adenoid cystic carcinoma								37	60					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484954	118484954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484954G>A	ENST00000311085.8	+	18	3512	c.3432G>A	c.(3430-3432)tgG>tgA	p.W1144*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.W1144*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1144										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTAGATTGGATGTCTAGAG	0.368000													31	67					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25792082	25792082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792082C>T	ENST00000399878.3	-	12	2193	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	SEL1L3_ENST00000502949.1_Missense_Mutation_p.A538T|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A656T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	691						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTACCTGAGCTGCTGCATTG	0.423000													18	26					0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153750877	153750877	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153750877G>T	ENST00000451320.2	+	2	256	c.93_splice	c.e2+1	p.R31_splice	ARFIP1_ENST00000353617.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000429148.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000405727.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000356064.3_Splice_Site_p.R31_splice			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	31					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCTTTAATAGGGTAAGAACA	0.338000													8	80					5.18039e-06	5.91835e-06	1	1	0
ENTPD3	956	broad.mit.edu	37	3	40457483	40457483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40457483C>T	ENST00000301825.3	+	7	868	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	250						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGTATGGCTACGTATACACGC	0.537000													8	15					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710376	18710376	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18710376G>A	ENST00000392386.3	-	2	589	c.397_splice	c.e2+1	p.G132_splice		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	132					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAACTTACGGCCAACATAGA	0.647000													22	24					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617000													15	30					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931113	176931113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931113C>T	ENST00000501403.2	-	6	1543	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.R454R|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCAGCCGCCGGTACTGGG	0.677000													3	10					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80022791	80022791	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80022791G>T	ENST00000354321.7	-	1	630	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L49M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	49					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGGCATGCAGCATGGGCGTG	0.692000													5	64					0.014758	0.0152625	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77632512	77632512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77632512C>T	ENST00000407578.2	-	78	13436	c.13170G>A	c.(13168-13170)acG>acA	p.T4390T	MYCBP2_ENST00000357337.6_Silent_p.T4352T|MYCBP2_ENST00000544440.2_Silent_p.T4352T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACAAGGATGCGTCTTACTAC	0.428000													16	24					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52032990	52032990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52032990G>A	ENST00000346477.3	-	4	1020	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L334F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L282F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L334F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L345F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L323F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	334	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACAAAGAGACTCAGAGAG	0.577000													14	7					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552185	29552185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29552185C>T	ENST00000222792.6	+	13	1771	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I	CHN2_ENST00000421775.2_Missense_Mutation_p.T220I|CHN2_ENST00000424025.2_Missense_Mutation_p.T233I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.T278I|CHN2_ENST00000435288.2_Missense_Mutation_p.T138I|CHN2_ENST00000439711.2_Missense_Mutation_p.T232I|CHN2_ENST00000539389.1_Missense_Mutation_p.T270I|CHN2_ENST00000495789.2_Missense_Mutation_p.T427I|CHN2_ENST00000546235.1_Missense_Mutation_p.T399I|CHN2_ENST00000539406.1_Missense_Mutation_p.T489I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	414	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGCAGGGTTACTATGAATGAA	0.423000													18	52					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33518329	33518329	+	Missense_Mutation	SNP	C	C	T	rs150123521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33518329C>T	ENST00000404816.2	+	20	3568	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	LTBP1_ENST00000402934.1_Missense_Mutation_p.P693L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P693L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1073L|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000272273.5_Missense_Mutation_p.P12L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P747L|LTBP1_ENST00000407925.1_Missense_Mutation_p.P746L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P746L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1072	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCCGGACTCCGGACCACAAG	0.428000													22	28					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952746	124952746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124952746C>T	ENST00000360647.4	-	9	1309	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF148_ENST00000492394.1_Missense_Mutation_p.R275H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R275H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.R275H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	275					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGGCACATACGTTTATGTTT	0.373000													37	50					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43987140	43987140	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43987140T>G	ENST00000352133.2	+	16	2298	c.1316T>G	c.(1315-1317)cTc>cGc	p.L439R	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L439R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	439					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCCTACACACTCATCACCACC	0.622000													13	18					0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151036	69151036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69151036C>T	ENST00000273258.3	+	2	327	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	75					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGTGGTGGTGCTGGTGTTCAC	0.502000													12	22					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88446979	88446979	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88446979C>T	ENST00000429277.2	+	6	988	c.843C>T	c.(841-843)atC>atT	p.I281I	LDB3_ENST00000458213.2_Silent_p.I166I|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Silent_p.I166I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.I281I|LDB3_ENST00000372066.3_Silent_p.I166I|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000310944.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	271						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGATGCCATCATGGATGCCA	0.632000													43	74					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89827531	89827531	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89827531T>C	ENST00000264344.5	-	6	1049	c.843_splice	c.e6+1	p.K281_splice	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Splice_Site_p.K72_splice	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	281					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATAGTTTACCTTGGTTTTTGG	0.358000													20	451					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178124	158178124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158178124G>A	ENST00000410096.1	-	3	805	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	ERMN_ENST00000397283.2_Missense_Mutation_p.H185Y|ERMN_ENST00000535935.1_Missense_Mutation_p.H66Y|ERMN_ENST00000420719.2_Missense_Mutation_p.H152Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	172						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTTTAGAATGTAACATGTCA	0.398000													38	95					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176939798	176939798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176939798G>A	ENST00000507955.1	-	13	1905	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	461	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCATGGATGGCTACGGCCTC	0.587000													39	58					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50558970	50558970	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50558970T>C	ENST00000262794.5	+	10	1577	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y	MOV10L1_ENST00000540615.1_Silent_p.Y478Y|MOV10L1_ENST00000545383.1_Silent_p.Y498Y|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.Y498Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	498					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCCCCAATATCCAATCCCAG	0.378000													8	126					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786519	160786519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160786519C>T	ENST00000263285.5	+	5	1238	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.A55V|LY9_ENST00000368040.1_Missense_Mutation_p.A55V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	403	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGAAGGAAGCTGTTGTGTCC	0.557000													25	27					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218882	180218882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218882C>T	ENST00000446023.2	-	3	1840	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	MGAT1_ENST00000333055.3_Missense_Mutation_p.G364S|MGAT1_ENST00000427865.2_Missense_Mutation_p.G364S|MGAT1_ENST00000307826.4_Missense_Mutation_p.G364S|MGAT1_ENST00000393340.3_Missense_Mutation_p.G364S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	364					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGGAGCACCGTAGACGCGG	0.587000													4	55					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:373108C>T	ENST00000329962.6	+	5	527	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627000													26	28					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696960	17696960	+	Missense_Mutation	SNP	C	C	G	rs34551516		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696960C>G	ENST00000353383.1	+	3	1167	c.698C>G	c.(697-699)gCc>gGc	p.A233G	RAI1_ENST00000261641.6_Missense_Mutation_p.A233G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	233	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGCAGGGGGCCCACTCCTAT	0.652000													5	58					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2621951	2621951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2621951C>T	ENST00000358864.1	+	20	2690	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	892						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGACTCATCCGTGGAGGTCA	0.602000													22	22					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870903	129870903	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129870903T>C	ENST00000373425.3	-	2	725	c.108A>G	c.(106-108)agA>agG	p.R36R	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	36					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAATGAACTCTCTTGGCGAGC	0.607000													4	47					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487549	248487549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248487549G>A	ENST00000317965.2	-	1	350	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGAGCCAAGCAATGATATA	0.453000													11	214					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87208030	87208030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87208030C>A	ENST00000370558.4	+	8	1225	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.L201I|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.L322I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	301					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTCAGTGACCTTAAGGAGTG	0.453000													26	77					3.17567e-06	3.64554e-06	1	1	0
MUC1	4582	broad.mit.edu	37	1	155161934	155161934	+	Missense_Mutation	SNP	C	C	T	rs149173724	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155161934C>T	ENST00000368395.1	-	2	270	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	849						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCTGAACCGGGGCTGTGG	0.587000			T	IGH@	B-NHL								54	73					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79233233	79233233	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79233233A>C	ENST00000282003.6	-	1	81	c.23T>G	c.(22-24)gTt>gGt	p.V8G		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	8							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGACAATGTAACATTCTGCAC	0.577000													5	4					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101591354	101591354	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101591354G>A	ENST00000335681.5	+	13	1515	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	NPAS2_ENST00000542504.1_Silent_p.A475A|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCATCGGCGTCCTCAAGAA	0.562000													16	29					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801428	71801428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71801428G>A	ENST00000258104.3	+	30	3552	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	DYSF_ENST00000413539.2_Missense_Mutation_p.R1123H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1079H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1110H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1109H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1110H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1093H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1109H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1124H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1093H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1092H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1092	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCGCCGCCGCCGCTGGCGC	0.662000													46	77					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21938907	21938907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938907C>A	ENST00000358242.3	+	16	1644	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	DMTN_ENST00000517600.1_Missense_Mutation_p.P344H|DMTN_ENST00000265800.5_Missense_Mutation_p.P384H|DMTN_ENST00000523782.2_Missense_Mutation_p.P337H|DMTN_ENST00000523266.1_Missense_Mutation_p.P384H|DMTN_ENST00000415253.1_Missense_Mutation_p.P362H|DMTN_ENST00000443491.2_Missense_Mutation_p.P337H|DMTN_ENST00000381470.3_Missense_Mutation_p.P362H|DMTN_ENST00000432128.1_Missense_Mutation_p.P384H|DMTN_ENST00000519907.1_Missense_Mutation_p.P362H					dematin actin binding protein																		GCCATGTCCCCTGAAGAGTTT	0.607000													6	57					0.00116845	0.00124821	1	1	0
TRMT13	54482	broad.mit.edu	37	1	100614354	100614354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100614354C>A	ENST00000370141.2	+	11	1430	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		AATCATTCTTCATCACCAGAA	0.313000													11	49					9.31168e-06	1.06029e-05	1	1	0
GTPBP6	8225	broad.mit.edu	37	X	224523	224523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:224523C>T	ENST00000326153.4	-	4	462	c.463G>A	c.(463-465)Gtc>Atc	p.V155I				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	384						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGTGGCTGACGTCCCTCACG	0.667000													7	10					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114512727	114512727	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114512727G>T	ENST00000369558.1	+	14	3153	c.2921G>T	c.(2920-2922)aGa>aTa	p.R974I	HIPK1_ENST00000426820.2_Missense_Mutation_p.R974I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R929I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R600I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R974I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R929I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R940I|HIPK1_ENST00000369553.1_Missense_Mutation_p.R580I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	974	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTGGCAGAGTTGTGGCA	0.542000													11	110					0.00010058	0.000111121	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403000													26	39					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493951	154493951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154493951C>T	ENST00000368482.4	+	6	1203	c.365C>T	c.(364-366)cCg>cTg	p.P122L	TDRD10_ENST00000368480.3_Missense_Mutation_p.P122L|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527000													87	105					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715841	68715841	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715841G>C	ENST00000325631.5	+	2	703	c.629G>C	c.(628-630)tGt>tCt	p.C210S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.C210S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	210	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTCTTTGCTTGTGTCACAGCT	0.502000													10	108					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976442	47976442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47976442C>T	ENST00000543600.1	-	2	823	c.784G>A	c.(784-786)Gca>Aca	p.A262T	PTCHD4_ENST00000339488.4_Missense_Mutation_p.A279T			Q6ZW05	CF138_HUMAN	patched domain containing 4	279	SSD.					integral to membrane	hedgehog receptor activity										ATCCCTGCTGCTGTGATGATG	0.552000													7	17					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54681864	54681864	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54681864G>A	ENST00000605337.1	+	6	1089	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	MRPL37_ENST00000360840.5_Silent_p.T347T|MRPL37_ENST00000336230.6_Silent_p.T216T			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	347					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCGTGGGCACGGATGGACGTG	0.517000													35	78					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90526114	90526114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90526114C>T	ENST00000404459.1	+	4	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	172					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTCATTGGACATTCACTTGG	0.363000													20	51					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509366	228509366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509366C>T	ENST00000570156.2	+	66	17769	c.17695C>T	c.(17695-17697)Cgg>Tgg	p.R5899W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2576W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2061W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4942W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4942W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4942	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGATGGGCGGCACCATCA	0.637000													28	35					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518586	86518586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86518586C>T	ENST00000297814.2	-	4	990	c.847G>A	c.(847-849)Gac>Aac	p.D283N	KIF27_ENST00000413982.1_Missense_Mutation_p.D283N|KIF27_ENST00000334204.2_Missense_Mutation_p.D283N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	283					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCGTGGGTCCCCAAGAGCG	0.438000													25	34					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598963	45598963	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45598963C>T	ENST00000336156.4	-	7	825	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	KIAA0930_ENST00000391627.2_Missense_Mutation_p.A220T|KIAA0930_ENST00000251993.7_Missense_Mutation_p.A259T|KIAA0930_ENST00000443310.3_Missense_Mutation_p.A236T	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	254							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCCATCTCGGCGTGGCCCTTG	0.622000													54	82					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173380	54173380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54173380C>A	ENST00000259782.4	+	1	128	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	TINAG_ENST00000370864.3_5'UTR|TINAG_ENST00000486436.1_Intron|TINAG_ENST00000370869.3_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	11					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTAATCTTCTCTTATCTTACT	0.413000													5	68					0.014758	0.0152625	1	1	0
MRPL21	219927	broad.mit.edu	37	11	68660895	68660895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68660895G>A	ENST00000567045.1	-	5	405	c.170C>T	c.(169-171)aCg>aTg	p.T57M	MRPL21_ENST00000450904.2_Missense_Mutation_p.T57M|MRPL21_ENST00000362034.2_Missense_Mutation_p.T142M			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	142					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	p.T142M(1)		large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAAGCAGCGTGAAGTTGTC	0.507000													4	20					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808273	1808273	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1808273C>T	ENST00000340107.4	+	16	2293	c.2036_splice	c.e16-1	p.V679_splice	FGFR3_ENST00000352904.1_Splice_Site_p.V565_splice|FGFR3_ENST00000440486.2_Splice_Site_p.V677_splice|FGFR3_ENST00000260795.2_Splice_Site_p.V677_splice|FGFR3_ENST00000412135.2_Splice_Site_p.V565_splice|FGFR3_ENST00000481110.2_Splice_Site_p.L655_splice	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	677	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCTGCAGCTGGTCCTTTG	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				18	23					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8278156	8278156	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8278156G>A	ENST00000229332.5	+	2	329		c.e2-1		CLEC4A_ENST00000352620.3_Splice_Site|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Intron	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A						cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTCTTCTTCAGCTTCCAAGGA	0.418000													6	45					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148585691	148585691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148585691G>A	ENST00000340855.6	-	2	445	c.236C>T	c.(235-237)gCg>gTg	p.A79V	IDS_ENST00000541269.1_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.A79V|IDS_ENST00000370441.4_Missense_Mutation_p.A79V|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370443.4_Missense_Mutation_p.A79V	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATACCTGCGCAAAGGCATT	0.572000													10	10					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450573	76450573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76450573G>A	ENST00000389840.5	-	64	10467	c.10343C>T	c.(10342-10344)gCc>gTc	p.A3448V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A3457V|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGCGGATGGCTTTCAGTTC	0.582000													5	10					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901433	129901433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901433G>A	ENST00000368654.3	-	13	9046	c.8671C>T	c.(8671-8673)Cgg>Tgg	p.R2891W	MKI67_ENST00000368653.3_Missense_Mutation_p.R2531W	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2891	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGCTTCCGCTTTGCAGGT	0.547000													67	86					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651250	1651250	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1651250C>G	ENST00000399676.2	+	1	218	c.180C>G	c.(178-180)tcC>tcG	p.S60S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	60						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gatgtggctccggctgCTGTG	0.682000													13	42					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643916	52643916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52643916C>A	ENST00000356770.4	-	15	1886	c.1884G>T	c.(1882-1884)caG>caT	p.Q628H	PBRM1_ENST00000394830.3_Missense_Mutation_p.Q660H|PBRM1_ENST00000296302.7_Missense_Mutation_p.Q660H|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q675H|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q660H|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q675H|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q660H|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q660H			Q86U86	PB1_HUMAN	polybromo 1	660					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTAGTTTCTGCTGCATTG	0.378000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								49	117					2.72333e-11	3.39006e-11	1	1	0
SIX4	51804	broad.mit.edu	37	14	61190785	61190785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61190785G>T	ENST00000216513.4	-	1	67	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	3						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGGGGAGGAAGAGGACATTTT	0.562000													6	80					0.0215528	0.0221649	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45779484	45779484	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45779484G>T	ENST00000357450.4	-	12	1920	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L641I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	641	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTCCATCAAGAGCTACTGTC	0.318000													4	57					0.000602214	0.000649039	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6066610	6066610	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066610G>A	ENST00000409021.3	-	9	1877	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.D291D|JAKMIP1_ENST00000409831.1_Silent_p.D476D|JAKMIP1_ENST00000410077.2_Silent_p.D311D|JAKMIP1_ENST00000282924.5_Silent_p.D476D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	476	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTTACATCGTCCAAGTCTT	0.547000													19	19					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615406	17615406	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615406C>T	ENST00000252595.7	+	12	2023	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.G463G|SLC27A1_ENST00000442725.1_Silent_p.G642G|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	642					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGCTCGGGCGCCTTCGCCC	0.627000													10	20					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617300	145617300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145617300C>T	ENST00000308860.6	+	11	1149	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTTCTGGTGCGGAAAGGCCC	0.662000													7	12					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57094960	57094960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57094960C>A	ENST00000278412.2	-	15	2077	c.1811G>T	c.(1810-1812)aGg>aTg	p.R604M	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	604					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATAGTCCCTCCTGGCATCCTC	0.502000													18	170					2.4624e-09	2.98951e-09	1	1	0
PDGFRL	5157	broad.mit.edu	37	8	17500218	17500218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17500218G>T	ENST00000541323.1	+	7	1481	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	PDGFRL_ENST00000398074.3_Missense_Mutation_p.D346Y|PDGFRL_ENST00000523248.1_Intron|PDGFRL_ENST00000251630.6_Missense_Mutation_p.D346Y	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	346	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TACAGTGGAAGACTTTGAGAC	0.468000													27	47					2.65835e-16	3.4289e-16	1	1	0
ARSA	410	broad.mit.edu	37	22	51065374	51065374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51065374G>A	ENST00000547307.1	-	3	971	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARSA_ENST00000547805.1_Missense_Mutation_p.A189V|ARSA_ENST00000395621.3_Missense_Mutation_p.A191V|ARSA_ENST00000395619.3_Missense_Mutation_p.A191V|ARSA_ENST00000356098.5_Missense_Mutation_p.A191V|ARSA_ENST00000216124.5_Missense_Mutation_p.A191V|ARSA_ENST00000453344.2_Missense_Mutation_p.A105V			P15289	ARSA_HUMAN	arylsulfatase A	189						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGGGCTGCGCCTCCACGGA	0.677000													38	52					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2411398G>A	ENST00000449969.1	+	3	577	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687000													17	23					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215646227	215646227	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215646227T>G	ENST00000260947.4	-	4	505	c.371A>C	c.(370-372)aAa>aCa	p.K124T	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	124					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATCTTCTTTCAAATCTGA	0.333000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	66					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135085933	135085933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135085933C>T	ENST00000445355.3	-	9	912	c.862G>A	c.(862-864)Gta>Ata	p.V288I	ADAM8_ENST00000485491.2_Missense_Mutation_p.V249I|ADAM8_ENST00000415217.3_Missense_Mutation_p.V288I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	249					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ATGAGCTGTACGTTGTCATGC	0.687000													15	19					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847889	215847889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215847889G>A	ENST00000366943.2	-	63	13750	c.13364C>T	c.(13363-13365)aCa>aTa	p.T4455I	USH2A_ENST00000307340.3_Missense_Mutation_p.T4455I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4455	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTGAGCCTGTGACTTGCAA	0.468000										HNSCC(13;0.011)			17	72					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905871	83905871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905871C>T	ENST00000340417.3	-	2	504	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.E43K|LIN54_ENST00000506560.1_Missense_Mutation_p.E43K|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.E43K|LIN54_ENST00000395283.2_Missense_Mutation_p.E43K|LIN54_ENST00000510557.1_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	43					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCTTCCAGTTCTGTCTCCATG	0.413000													28	51					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469479	21469479	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21469479A>G	ENST00000222584.3	+	3	914	c.696A>G	c.(694-696)caA>caG	p.Q232Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	232					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTCCGGTCCAAATTAGACCTG	0.438000													3	101					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768259	127768259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127768259T>C	ENST00000483725.3	-	5	1541	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAGATCAGGATGAGATTTAGC	0.438000													54	72					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432710	104432710	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104432710T>C	ENST00000361820.3	-	3	2584	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	662					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGAGCTGCTGTATCTCGGGTC	0.522000													6	77					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508949	161508949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508949C>A	ENST00000392142.4	+	10	2934	c.2786C>A	c.(2785-2787)cCt>cAt	p.P929H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P929H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P929H	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	929					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGTCGTGCCTCAGGTGGAG	0.522000													9	29					7.48243e-07	8.70085e-07	1	1	0
USP43	124739	broad.mit.edu	37	17	9632095	9632095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632095G>T	ENST00000570827.2	+	15	3301	c.2227G>T	c.(2227-2229)Ggc>Tgc	p.G743C	USP43_ENST00000570475.1_Missense_Mutation_p.G1049C|USP43_ENST00000285199.6_Missense_Mutation_p.G1054C			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1054					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGGCCAGGGGCCTGGGCAG	0.711000													3	11					0.004672	0.0049138	1	1	0
OPA1	4976	broad.mit.edu	37	3	193363415	193363415	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193363415G>A	ENST00000361510.2	+	17	1915		c.e17+1		OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGGAAAAGGTATGCAAAGA	0.284000													17	36					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134059261	134059261	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134059261A>C	ENST00000398844.2	+	22	3356	c.3068A>C	c.(3067-3069)gAc>gCc	p.D1023A		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1023					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACAGACAGACCTTCCAGAA	0.308000													17	100					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41516605	41516605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41516605G>A	ENST00000400454.1	-	17	3549	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1024	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTCTCGGTAACCTATTT	0.453000													5	57					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048487	103048487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048487C>T	ENST00000375735.2	+	38	6221	c.6077C>T	c.(6076-6078)aCa>aTa	p.T2026I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2026I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2026	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACATGGACACAAGAGAATGG	0.393000													7	41					0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776049	44776049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44776049G>T	ENST00000396048.2	+	3	573	c.136G>T	c.(136-138)Gga>Tga	p.G46*		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GATTCACAGAGGAGAGAAGCC	0.418000													4	67					0.014758	0.0152625	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519835	113519835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519835G>T	ENST00000284601.3	-	4	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	438					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTATCATCCAGGACTTCTTTG	0.408000													8	181					2.17888e-05	2.45068e-05	1	1	0
HERC4	26091	broad.mit.edu	37	10	69714744	69714744	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69714744G>A	ENST00000395198.3	-	19	2440	c.2193C>T	c.(2191-2193)aaC>aaT	p.N731N	HERC4_ENST00000277817.6_Silent_p.N621N|HERC4_ENST00000373700.4_Silent_p.N723N|HERC4_ENST00000412272.2_Silent_p.N731N|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	731	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGTAATCTATGTTCTTTGTTT	0.338000													4	70					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776629	137776629	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137776629A>C	ENST00000242375.3	+	3	419	c.378_splice	c.e3+1	p.K126_splice	AKR1D1_ENST00000432161.1_Splice_Site_p.K126_splice|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Splice_Site_p.K126_splice	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	126					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGCCTTTAAGGTGAGTTCA	0.512000													8	88					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156867624	156867624	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156867624C>T	ENST00000295926.3	-	8	1140		c.e8+1		CCNL1_ENST00000461804.1_Splice_Site	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ATACATCTTACATGGCTTGGA	0.398000													9	60					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897171	159897171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159897171C>T	ENST00000368094.1	-	21	3701	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.Q1152Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1168						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGACTGGCTGTCGATAGG	0.622000													44	34					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633665	69633665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69633665C>T	ENST00000337103.4	+	9	2656	c.1064C>T	c.(1063-1065)aCa>aTa	p.T355I	C8orf34_ENST00000518698.1_Missense_Mutation_p.T466I|C8orf34_ENST00000325233.3_Missense_Mutation_p.T124I|C8orf34_ENST00000539993.1_Missense_Mutation_p.T380I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	380					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTAAACTAACAGGACCTGTA	0.274000													9	31					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55905558	55905558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55905558G>A	ENST00000521992.1	-	4	628	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Silent_p.A26A|CES5A_ENST00000319165.9_Silent_p.A132A|CES5A_ENST00000290567.9_Silent_p.A132A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	132						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCTGTATCGGCGTGGGCAG	0.557000													4	40					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82883097	82883097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883097G>T	ENST00000306270.7	-	27	4333	c.3784C>A	c.(3784-3786)Cta>Ata	p.L1262I	IBTK_ENST00000510291.1_Missense_Mutation_p.L1247I|IBTK_ENST00000503631.1_Missense_Mutation_p.L1061I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1262					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACTGTCTAGAAGTGGTAAA	0.413000													19	53					4.54149e-19	5.93788e-19	1	1	0
CDK13	8621	broad.mit.edu	37	7	40133841	40133841	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133841A>G	ENST00000181839.4	+	14	4406	c.3801A>G	c.(3799-3801)ccA>ccG	p.P1267P	CDK13_ENST00000340829.5_Silent_p.P1207P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1267					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCCTGAACCACCACCAGTCA	0.527000													8	129					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29811375	29811375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29811375A>G	ENST00000375398.2	-	18	3802	c.3353T>C	c.(3352-3354)cTt>cCt	p.L1118P	SVIL_ENST00000355867.4_Missense_Mutation_p.L1118P|SVIL_ENST00000535393.1_Missense_Mutation_p.L16P|SVIL_ENST00000375400.3_Missense_Mutation_p.L692P			O95425	SVIL_HUMAN	supervillin	1118					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGAGTCAAGAAGGCCCTC	0.488000													20	28					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64083220	64083220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64083220C>T	ENST00000405666.1	+	7	1288	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	ESRRA_ENST00000000442.6_Nonsense_Mutation_p.R352*|ESRRA_ENST00000406310.1_Nonsense_Mutation_p.R351*			P11474	ERR1_HUMAN	estrogen-related receptor alpha	352	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAGCAGCTGCGAGAAGCTCT	0.667000													6	84					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61768517	61768517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61768517G>A	ENST00000361357.3	+	14	1679	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	MAP3K3_ENST00000584573.1_Missense_Mutation_p.R450H|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R454H|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R419H|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R423H	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	423	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R423H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCATGAGCGCATCGTGCAG	0.577000													24	27					0	0	1	0	0
STON1-GTF2A1L	0	broad.mit.edu	37	2	48872236	48872236	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48872236T>C	ENST00000394754.1	+	7	2594	c.2480T>C	c.(2479-2481)gTg>gCg	p.V827A	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V827A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V123A|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V827A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V89A	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAGGTGTGACACTACAG	0.323000													3	39					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40998936	40998936	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40998936T>G	ENST00000352632.3	+	5	648	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L188V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L188V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	188	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L188V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCTGCTCTTGTGGTGTCA	0.502000													4	35					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91655379	91655379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91655379G>T	ENST00000518868.1	+	12	1750	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	C14orf159_ENST00000428926.2_Nonsense_Mutation_p.E349*|C14orf159_ENST00000412671.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000256324.10_Nonsense_Mutation_p.E354*|C14orf159_ENST00000525393.2_Nonsense_Mutation_p.E225*|C14orf159_ENST00000523816.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000523771.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000522322.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000521077.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000520328.1_Nonsense_Mutation_p.E337*			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	349						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGAGCCTCCAGAAGAGACAGA	0.557000													6	39					3.59834e-05	4.01776e-05	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47940750	47940750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47940750C>T	ENST00000236877.6	-	8	2474	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Silent_p.E156E|SLC8A2_ENST00000542837.1_Silent_p.E449E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	693					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTAAAAACTGCTCCCTCCATG	0.517000													31	44					0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				5	29					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50860689	50860689	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50860689G>T	ENST00000359139.3	+	9	1246	c.852G>T	c.(850-852)gaG>gaT	p.E284D	PPP6R2_ENST00000395744.3_Missense_Mutation_p.E284D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E285D|PPP6R2_ENST00000216061.5_Missense_Mutation_p.E284D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	284						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAGGACAGAGGGCTTGGTGG	0.582000													8	87					0.000442599	0.00048047	1	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765664	171765664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171765664C>A	ENST00000311601.5	-	13	2615	c.2445G>T	c.(2443-2445)caG>caT	p.Q815H	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	815					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGTCATCCTGGCCCCCCA	0.612000													3	23					0.004672	0.0049138	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49207305	49207305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207305G>A	ENST00000340334.7	-	7	1065	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.L248F|FOLH1_ENST00000256999.2_Missense_Mutation_p.L248F|FOLH1_ENST00000533034.1_Missense_Mutation_p.L233F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	248					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L248V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTCCAGGAAGATTCCAACCA	0.507000													11	26					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129196977	129196977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129196977G>A	ENST00000296266.3	+	13	1611	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	IFT122_ENST00000507564.1_Missense_Mutation_p.M414I|IFT122_ENST00000504021.1_Missense_Mutation_p.M316I|IFT122_ENST00000440957.2_Missense_Mutation_p.M213I|IFT122_ENST00000349441.2_Missense_Mutation_p.M311I|IFT122_ENST00000348417.2_Missense_Mutation_p.M422I|IFT122_ENST00000347300.2_Missense_Mutation_p.M363I|IFT122_ENST00000431818.2_Missense_Mutation_p.M272I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	422					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATCAGACATGCATTACCGGG	0.453000													12	24					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70098941	70098941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70098941A>C	ENST00000282570.3	+	13	1680	c.1429A>C	c.(1429-1431)Ata>Cta	p.I477L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	477					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTATCAAATACTTACACT	0.279000													21	44					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57293919	57293919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57293919G>T	ENST00000288266.3	+	17	1677	c.1530G>T	c.(1528-1530)atG>atT	p.M510I		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	510	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTGGTTCAATGGAGGTGAAAT	0.348000													5	35					2.0095e-06	2.31757e-06	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18435201C>A	ENST00000433979.1	+	2	302	c.186C>A	c.(184-186)acC>acA	p.T62T	PIK3C2G_ENST00000266497.5_Silent_p.T62T|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Silent_p.T62T|PIK3C2G_ENST00000535651.1_Silent_p.T62T	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGC	0.408000													5	49					1.23904e-05	1.39987e-05	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63269221	63269221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63269221C>T	ENST00000322893.7	-	9	1916	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A492T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A550T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATCGAAAAGCAGGATGTTCA	0.493000													24	24					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100549631	100549631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100549631G>T	ENST00000379458.4	+	2	212	c.212G>T	c.(211-213)aGg>aTg	p.71_71insM	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCTGGCCACAGGGAAAATGCA	0.577000													13	102					1.55795e-14	1.98882e-14	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108700209	108700209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108700209C>A	ENST00000565488.1	-	5	763	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D163Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	182					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTGAATTCATCTGGAATAGTT	0.428000													8	154					0.000274275	0.000298791	1	1	0
ZBED4	9889	broad.mit.edu	37	22	50277948	50277948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50277948C>T	ENST00000216268.4	+	2	1115	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	213						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAAAGTGGCGTCTAAGATC	0.552000													17	21					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47283692C>T	ENST00000271153.4	+	10	1296	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	CYP4B1_ENST00000452782.2_Silent_p.P258P|CYP4B1_ENST00000371919.4_Silent_p.P406P|CYP4B1_ENST00000371923.4_Silent_p.P421P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGTATGGCCCGACCCTGAGG	0.582000													45	92					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15814828	15814828	+	Silent	SNP	G	G	A	rs141031021	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814828G>A	ENST00000338282.6	-	33	4765	c.4659C>T	c.(4657-4659)gaC>gaT	p.D1553D	MYH11_ENST00000396324.3_Silent_p.D1560D|MYH11_ENST00000576790.1_Silent_p.D1553D|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.D1560D|MYH11_ENST00000300036.5_Silent_p.D1553D|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1553					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGCTCGTCCTCCAGCT	0.632000			T	CBFB	AML								28	70					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262778	45262778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45262778C>A	ENST00000164227.5	+	9	1515	c.1271C>A	c.(1270-1272)cCt>cAt	p.P424H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	424	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TTCTTCCTTCCTTCCCCATCT	0.672000			T	IGH@	CLL								6	181					0.00116845	0.00124821	1	1	0
PNMA3	29944	broad.mit.edu	37	X	152226235	152226235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226235C>T	ENST00000447306.1	+	2	1159	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	PNMA3_ENST00000370265.4_Missense_Mutation_p.L275F|PNMA3_ENST00000370264.4_Missense_Mutation_p.L275F	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	275					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaacccctgctccaaagagc	0.478000													49	82					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3548792	3548792	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3548792G>T	ENST00000378322.3	-	10	1091	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	WRAP73_ENST00000270708.7_Missense_Mutation_p.L345M			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	345						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTTGTCGCCAGGAAGTAGCTG	0.512000													42	65					1.22674e-20	1.61165e-20	1	1	0
WAC	51322	broad.mit.edu	37	10	28903584	28903584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28903584C>A	ENST00000375664.3	+	11	2000	c.1391C>A	c.(1390-1392)cCt>cAt	p.P464H	WAC_ENST00000347934.4_Missense_Mutation_p.P406H|WAC_ENST00000375646.1_Missense_Mutation_p.P357H|WAC_ENST00000354911.4_Missense_Mutation_p.P509H			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	509					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTCATGAACCTGTCTCTCCT	0.423000													5	56					0.00116845	0.00124821	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16049780	16049780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16049780C>A	ENST00000268712.3	-	10	1249	c.992G>T	c.(991-993)aGg>aTg	p.R331M	NCOR1_ENST00000395851.1_Missense_Mutation_p.R331M|NCOR1_ENST00000395848.1_Missense_Mutation_p.R222M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	331	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383000													32	27					5.6714e-07	6.62436e-07	1	1	0
ENY2	56943	broad.mit.edu	37	8	110348394	110348394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110348394C>T	ENST00000521688.1	+	2	189	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ENY2_ENST00000521662.1_Missense_Mutation_p.A10V|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Missense_Mutation_p.A10V	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	15					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348000													5	17					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67470071	67470071	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67470071C>T	ENST00000235345.5	-	12	1105	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	340					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGCCTCTGACTGTTTGCTCA	0.448000													20	38					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57754828	57754828	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57754828G>T	ENST00000274289.3	-	2	662	c.362C>A	c.(361-363)cCt>cAt	p.P121H		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	121	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTTTGATGAGGTTTAGCTAC	0.408000													5	117					5.9392e-07	6.91975e-07	1	1	0
MTHFS	10588	broad.mit.edu	37	15	80137593	80137593	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80137593T>C	ENST00000258874.3	-	3	631	c.571A>G	c.(571-573)Aag>Gag	p.K191E	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.K167E	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	191					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		TCATCTACCTTCATGTCGTTT	0.433000													5	104					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818404	51818404	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51818404G>T	ENST00000579534.1	+	9	1543	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.S341I|POLI_ENST00000406285.3_Missense_Mutation_p.S388I|POLI_ENST00000579434.1_Missense_Mutation_p.S364I	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	467					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGCAAGCACAGTTTTGTAAGT	0.333000								DNA polymerases (catalytic subunits)					25	50					6.32553e-13	7.99037e-13	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29998656	29998656	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29998656C>A	ENST00000308893.4	+	16	4106	c.3063C>A	c.(3061-3063)gcC>gcA	p.A1021A	TAOK2_ENST00000543033.1_Silent_p.A908A|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.A848A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1021	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TACTCCTGGCCCAGGGTACCG	0.677000													3	22					0.150653	0.152692	1	1	0
HECTD1	25831	broad.mit.edu	37	14	31597844	31597844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31597844A>G	ENST00000399332.1	-	25	5221	c.4733T>C	c.(4732-4734)tTg>tCg	p.L1578S	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1578S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1578	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTCCTCCCCAAAGTATTAGT	0.443000													8	64					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81946082	81946082	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81946082A>G	ENST00000336735.4	-	20	2165	c.2049T>C	c.(2047-2049)gaT>gaC	p.D683D		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	683	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGGTGAATATCCTATAATA	0.363000													5	62					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99532922	99532922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99532922G>A	ENST00000376460.1	-	26	2830	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A917V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A929V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A918V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	918					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCTTATACGCGTACTTTGA	0.463000													3	12					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159458	109159458	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109159458T>C	ENST00000261483.4	+	16	3538	c.2486T>C	c.(2485-2487)gTg>gCg	p.V829A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	829					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGTCAGAGTGACACATGGA	0.338000													33	48					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63946458	63946458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63946458G>A	ENST00000443617.2	-	51	10237	c.10150C>T	c.(10150-10152)Cgg>Tgg	p.R3384W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3384					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCCATTGCCGATGCTGTGAG	0.562000													17	20					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43030050	43030050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43030050C>T	ENST00000316099.3	+	1	127	c.38C>T	c.(37-39)gCc>gTc	p.A13V	HNF4A_ENST00000415691.1_Missense_Mutation_p.A13V|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.A13V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	13					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGACATGGCCGACTACAGT	0.637000													5	53					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30617356	30617356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30617356C>A	ENST00000293604.6	+	2	830	c.637C>A	c.(637-639)Cta>Ata	p.L213I	C6orf136_ENST00000376473.5_Missense_Mutation_p.L32I|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	32										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCAGGGACTCTACCATTCCC	0.547000													15	208					6.49762e-13	8.19883e-13	1	1	0
CDC42EP4	23580	broad.mit.edu	37	17	71282025	71282025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71282025G>A	ENST00000335793.3	-	2	1009	c.615C>T	c.(613-615)tcC>tcT	p.S205S	CDC42EP4_ENST00000439510.2_Silent_p.S135S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	205					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGACATGATGGACTCCGCAT	0.622000													34	32					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22375896	22375896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22375896G>A	ENST00000397121.2	-	2	369	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCAGGTCTGGCTTAAAGGCA	0.408000													19	52					0	0	1	0	0
FAM60A	58516	broad.mit.edu	37	12	31446798	31446798	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31446798G>T	ENST00000395766.1	-	0	570				FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S99Y|FAM60A_ENST00000337682.4_Missense_Mutation_p.S99Y|FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame	NM_001135811.1|NM_021238.2	NP_001129283.1|NP_067061.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A											large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CCTGTTCCCAGATAGAGTTTT	0.323000													11	39					1.58986e-06	1.84011e-06	1	1	0
TENC1	23371	broad.mit.edu	37	12	53457553	53457553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53457553C>T	ENST00000314250.6	+	29	4407	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	TENC1_ENST00000552570.1_Missense_Mutation_p.P1371S|TENC1_ENST00000546602.1_Missense_Mutation_p.P1276S|TENC1_ENST00000549700.1_Missense_Mutation_p.P1308S|TENC1_ENST00000451358.1_Missense_Mutation_p.P1363S|TENC1_ENST00000314276.3_Missense_Mutation_p.P1383S|TENC1_ENST00000379902.3_Missense_Mutation_p.P1249S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCAAGAAGCCGGGAAGCCC	0.537000													76	102					0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132980151	132980151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132980151G>A	ENST00000372398.3	+	3	216	c.130G>A	c.(130-132)Gat>Aat	p.D44N	NCS1_ENST00000493042.1_3'UTR|NCS1_ENST00000458469.1_Missense_Mutation_p.D26N	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	44	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						TGGGCAGCTGGATGCGGCAGG	0.537000													41	48					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175775000	175775000	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175775000T>C	ENST00000298569.4	-	8	1166	c.633A>G	c.(631-633)ggA>ggG	p.G211G	KIAA1191_ENST00000393725.2_Silent_p.G192G|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Silent_p.G211G|KIAA1191_ENST00000533553.1_3'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	211							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TATCCCCACTTCCAGAGTCCA	0.463000													6	88					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27565877	27565877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27565877A>T	ENST00000265395.2	-	8	1173	c.967T>A	c.(967-969)Ttc>Atc	p.F323I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	323					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACGGATGAGAAGTCTTTCTTT	0.517000													4	38					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71500206	71500206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71500206G>A	ENST00000304743.2	+	17	4065	c.3619G>A	c.(3619-3621)Gca>Aca	p.A1207T	PCNX_ENST00000439984.3_Missense_Mutation_p.A1096T|PCNX_ENST00000238570.5_Missense_Mutation_p.A1207T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1207						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTAGTGGCAGTGTCTTA	0.348000													30	56					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448000													14	33					6.31663e-08	7.49729e-08	1	1	0
FLG2	388698	broad.mit.edu	37	1	152325257	152325257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325257G>A	ENST00000388718.5	-	3	5077	c.5005C>T	c.(5005-5007)Cat>Tat	p.H1669Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTATGTGTGTGTGAG	0.502000													127	213					0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9711662	9711662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9711662C>A	ENST00000467482.1	-	6	856	c.710G>T	c.(709-711)aGg>aTg	p.R237M	GPR143_ENST00000380929.2_Missense_Mutation_p.R257M			P51810	GP143_HUMAN	G protein-coupled receptor 143	237	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGCTCCCATCCTCCTCTCGTT	0.378000													14	109					6.31663e-08	7.49729e-08	1	1	0
ESYT1	23344	broad.mit.edu	37	12	56536911	56536911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536911T>C	ENST00000394048.5	+	28	3362	c.3098T>C	c.(3097-3099)cTg>cCg	p.L1033P	ESYT1_ENST00000541590.1_Missense_Mutation_p.L1043P|ESYT1_ENST00000267113.4_Missense_Mutation_p.L1043P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1033	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGGACCCTGAGTCCTGAA	0.537000													29	40					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532230	42532230	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42532230C>A	ENST00000282030.5	+	4	3221	c.2925C>A	c.(2923-2925)acC>acA	p.T975T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	975						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTTACACCTTCTACCACG	0.468000									Schinzel-Giedion syndrome				34	55					4.31634e-10	5.29815e-10	1	1	0
SETDB1	9869	broad.mit.edu	37	1	150935182	150935182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150935182A>G	ENST00000271640.5	+	18	3468	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1093R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1093	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTGCTCAGTCCAACCCT	0.443000													3	62					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169414	110169414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110169414T>C	ENST00000256578.3	+	6	1120	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	AMPD2_ENST00000528667.1_Missense_Mutation_p.Y254H|AMPD2_ENST00000528454.1_Missense_Mutation_p.Y136H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Y135H|AMPD2_ENST00000358729.4_Missense_Mutation_p.Y179H|AMPD2_ENST00000342115.4_Missense_Mutation_p.Y173H|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	254					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGGGAGAAGTACATGGCCCT	0.612000													22	74					0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464109	145464109	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145464109C>T	ENST00000311450.4	-	4	477	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	140										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGTGCACCGCCAGCCAGT	0.522000													22	32					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490723	58490723	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58490723G>T	ENST00000341164.4	-	7	1945	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	ZNF606_ENST00000536132.1_Missense_Mutation_p.A352D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCGTAAGGGCTGAGCGATT	0.363000													11	27					3.07112e-06	3.52574e-06	1	1	0
CRIP1	1396	broad.mit.edu	37	14	105954546	105954546	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105954546C>T	ENST00000330233.7	+	2	1027	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CRIP1_ENST00000392531.3_Silent_p.C28C|CRIP1_ENST00000409393.2_Silent_p.C28C			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	28	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ATCGGCCCTGCCTGAAGTGCG	0.687000													6	57					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847887	47847887	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47847887G>A	ENST00000289672.2	-	52	7835	c.7785C>T	c.(7783-7785)tgC>tgT	p.C2595C	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2595					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAATGCTCGGCAAAGTCCTC	0.517000													5	58					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42991053	42991053	+	Silent	SNP	C	C	T	rs143056921	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42991053C>T	ENST00000378661.2	-	1	348	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	89	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGACACCAGCGAGGAAGAGG	0.632000													15	19					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206500	49206500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206500C>T	ENST00000425340.2	+	2	404	c.287C>T	c.(286-288)cCg>cTg	p.P96L	FUT2_ENST00000391876.4_Missense_Mutation_p.P96L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCTTCATCCCGGCCCAGATG	0.642000													12	15					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770415	9770415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9770415C>A	ENST00000381844.4	-	1	330	c.167G>T	c.(166-168)aGg>aTg	p.R56M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.R56M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	56		Interaction with phosphoserine on interacting protein.			negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGGCGGACCTGCGGCCCCC	0.612000													4	33					0.00116845	0.00124821	1	1	0
ECT2	1894	broad.mit.edu	37	3	172525559	172525559	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172525559G>A	ENST00000417960.1	+	22	2626		c.e22-1		ECT2_ENST00000441497.2_Splice_Site|ECT2_ENST00000392692.3_Splice_Site|ECT2_ENST00000232458.5_Splice_Site|ECT2_ENST00000540509.1_Splice_Site|ECT2_ENST00000427830.1_Splice_Site	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAACCCTAGATTGCCATAA	0.398000													25	55					0	0	1	0	0
HSPA1L	0	broad.mit.edu	37	6	31778007	31778007	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778007C>T	ENST00000375654.4	-	2	1932	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	HSPA1L_ENST00000417199.3_Silent_p.S581S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	581					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCCAGCCACGAAAGGAGCT	0.388000													42	63					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105942209	105942209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105942209A>G	ENST00000357060.3	-	17	2319	c.2204T>C	c.(2203-2205)cTg>cCg	p.L735P	WDR96_ENST00000278064.2_Missense_Mutation_p.L666P|WDR96_ENST00000428666.1_Missense_Mutation_p.L736P	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	735										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGCTGCTCAGGGAAATTAA	0.378000													5	110					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38591666	38591666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38591666T>C	ENST00000299084.4	+	2	985	c.125T>C	c.(124-126)gTc>gCc	p.V42A	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	42	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTAAGCAGCGTCACTGTCTTC	0.458000									Legius syndrome				19	31					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203081	32203081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32203081G>A	ENST00000373658.3	-	20	3269	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	BAI2_ENST00000373655.2_Silent_p.I976I|BAI2_ENST00000398542.1_Silent_p.I909I|BAI2_ENST00000257070.4_Silent_p.I976I|BAI2_ENST00000398547.1_Silent_p.I909I|BAI2_ENST00000398556.3_Silent_p.I924I|BAI2_ENST00000398538.1_Silent_p.I964I|BAI2_ENST00000440175.2_Silent_p.I618I|BAI2_ENST00000527361.1_Silent_p.I976I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	976					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGATGCCAAGATGGACAGGC	0.617000													19	37					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61029813	61029813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61029813G>T	ENST00000373867.3	-	8	865	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	FAM13C_ENST00000442566.3_Missense_Mutation_p.L238I|FAM13C_ENST00000435852.2_Missense_Mutation_p.L217I|FAM13C_ENST00000419214.2_Missense_Mutation_p.L217I|FAM13C_ENST00000422313.2_Missense_Mutation_p.L217I|FAM13C_ENST00000277705.6_Missense_Mutation_p.L238I|FAM13C_ENST00000468840.2_Missense_Mutation_p.L134I|FAM13C_ENST00000373868.2_Missense_Mutation_p.L217I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	217										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAGTGGAGGTCTTCTGGT	0.527000													5	36					0.00116845	0.00124821	1	1	0
CEP350	9857	broad.mit.edu	37	1	180063428	180063428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180063428C>A	ENST00000367607.3	+	34	8606	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2730						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAACCAACTGGAAGCCCA	0.373000													11	29					6.40141e-05	7.11719e-05	1	1	0
THADA	63892	broad.mit.edu	37	2	43458140	43458140	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43458140A>C	ENST00000405006.4	-	38	6160	c.5809T>G	c.(5809-5811)Tct>Gct	p.S1937A	THADA_ENST00000415080.2_Missense_Mutation_p.S1618A|THADA_ENST00000405975.2_Missense_Mutation_p.S1937A|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1937							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTGCATAAGAGTCCCAAACA	0.483000													4	31					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441962	223441962	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223441962A>G	ENST00000343846.3	-	3	1050	c.417T>C	c.(415-417)caT>caC	p.H139H	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.H139H|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.H139H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	139	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCTTCTCTCCATGTCTATATG	0.378000													10	104					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386732	29386732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29386732G>T	ENST00000320081.5	+	13	1825	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	CLIP4_ENST00000401605.1_Missense_Mutation_p.G524C|CLIP4_ENST00000401617.2_Missense_Mutation_p.G417C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G524C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAAACCCCATGGCAAGAATGA	0.393000													33	67					4.65686e-17	6.02554e-17	1	1	0
WDR6	11180	broad.mit.edu	37	3	49049221	49049221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49049221C>A	ENST00000395474.3	+	2	624	c.344C>A	c.(343-345)gCt>gAt	p.A115D	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A34D|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	85					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCATGGTGGCTGTGTTTGGA	0.547000													19	169					5.49717e-05	6.12394e-05	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144947316	144947316	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947316G>T	ENST00000525985.1	-	2	177	c.106C>A	c.(106-108)Ccc>Acc	p.P36T				P58107	EPIPL_HUMAN	epiplakin 1	36						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGCCTGGGGGGCGTGCCG	0.692000													16	23					2.39187e-15	3.06793e-15	1	1	0
OGDH	4967	broad.mit.edu	37	7	44746903	44746903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44746903C>T	ENST00000222673.5	+	21	2754	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	OGDH_ENST00000449767.1_Silent_p.C900C|OGDH_ENST00000439616.2_Silent_p.C754C|OGDH_ENST00000444676.1_Silent_p.C919C|OGDH_ENST00000447398.1_Silent_p.C915C|OGDH_ENST00000543843.1_Silent_p.C855C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	904					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTCTCTTCTGCACCGGCAAAG	0.567000													29	30					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912592	76912592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76912592G>T	ENST00000409709.3	+	36	5224	c.4952G>T	c.(4951-4953)gGc>gTc	p.G1651V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1602V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1613V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1651	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGGCCAACGGCATCAATGAG	0.607000													13	20					5.01169e-05	5.58345e-05	1	1	0
CAB39	51719	broad.mit.edu	37	2	231683256	231683256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231683256C>T	ENST00000258418.5	+	9	1292	c.863C>T	c.(862-864)aCg>aTg	p.T288M	CAB39_ENST00000409788.3_Missense_Mutation_p.T288M|CAB39_ENST00000410084.3_Missense_Mutation_p.T288M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	288					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAACAAGACGCAGCCCATC	0.527000													12	30					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627449	70627449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627449G>A	ENST00000449580.1	+	27	4181	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	TAF1_ENST00000276072.3_Missense_Mutation_p.R1398H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1377H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1398H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1377	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATCCACCGGCGCCGCACAGAC	0.448000													23	39					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723315	118723315	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118723315T>A	ENST00000371527.1	-	2	2725	c.2073A>T	c.(2071-2073)tgA>tgT	p.*691C	NKRF_ENST00000304449.5_Nonstop_Mutation_p.*691C|NKRF_ENST00000542113.1_Nonstop_Mutation_p.*706C|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAGTAAGATCTCAATTTGCTT	0.383000													12	51					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53216587	53216587	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53216587G>A	ENST00000342657.3	+	0	1033				HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000357495.2_De_novo_Start_OutOfFrame	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2						mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CGTGGACGCCGCTGAAGAAGC	0.468000													14	132					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21116710	21116710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21116710C>T	ENST00000269228.5	-	21	3726	c.3172G>A	c.(3172-3174)Gcc>Acc	p.A1058T	NPC1_ENST00000412552.2_Missense_Mutation_p.A740T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1058					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAAGTCGGGCTTTCTTCAGA	0.522000													11	27					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675488	30675488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30675488C>A	ENST00000376406.3	-	8	3515	c.2868G>T	c.(2866-2868)caG>caT	p.Q956H	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	956				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTTCTGGTCCTGGCTCCCTC	0.622000								Other conserved DNA damage response genes					6	71					5.9392e-07	6.91975e-07	1	1	0
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43519258G>A	ENST00000395891.1	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1050	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517000													45	103					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105179215	105179215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105179215G>A	ENST00000392634.4	+	18	2773	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INF2_ENST00000330634.7_Silent_p.E887E	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	887	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCATCGAGCAGAAGCAAC	0.647000													14	27					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924466	236924466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236924466C>T	ENST00000366578.4	+	20	2685	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	ACTN2_ENST00000546208.1_Missense_Mutation_p.S334F|ACTN2_ENST00000542672.1_Missense_Mutation_p.S840F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	840					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCCTGGCTTCTGATAAGGTC	0.473000													25	24					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532000													4	52					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231282380	231282380	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231282380G>T	ENST00000264052.5	+	2	462	c.107_splice	c.e2+1	p.R36_splice	SP100_ENST00000427101.2_Intron|SP100_ENST00000341950.4_Splice_Site_p.R36_splice|SP100_ENST00000409897.1_5'UTR|SP100_ENST00000409341.1_Splice_Site_p.R36_splice|SP100_ENST00000409824.1_Intron|SP100_ENST00000409112.1_Splice_Site_p.R36_splice|SP100_ENST00000340126.4_Splice_Site_p.R36_splice	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	36	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gatttgcaaaggtgatgaatg	0.378000													27	44					1.2476e-16	1.61147e-16	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132736489	132736489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132736489G>A	ENST00000265342.7	-	4	599	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	117	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAAGCAGCACGGTGGAG	0.562000													16	24					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459940	27459940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27459940G>A	ENST00000375946.4	+	8	2655	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	MASTL_ENST00000342386.6_Silent_p.S684S|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Silent_p.S684S	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	684	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGATATTTCGTGTGCCTACA	0.358000													58	81					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62201256	62201256	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62201256A>G	ENST00000261517.5	-	65	8986	c.8913T>C	c.(8911-8913)caT>caC	p.H2971H	VPS13C_ENST00000395896.4_Silent_p.H2971H|VPS13C_ENST00000249837.3_Silent_p.H2928H|VPS13C_ENST00000395898.3_Silent_p.H2928H	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2971					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATCCCTCATGGTAATCAG	0.373000													8	65					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423204	56423204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56423204A>G	ENST00000290649.5	-	9	1379	c.1169T>C	c.(1168-1170)gTc>gCc	p.V390A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	390					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCTGACACGATTATT	0.453000													37	58					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64591874	64591874	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64591874C>A	ENST00000357395.3	+	72	13799	c.2655C>A	c.(2653-2655)acC>acA	p.T885T	SYNE2_ENST00000555002.1_Silent_p.T1134T|SYNE2_ENST00000394768.2_Silent_p.T885T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.T4500T|SYNE2_ENST00000554584.1_Silent_p.T4451T|SYNE2_ENST00000358025.3_Silent_p.T4500T			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4500					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGAAAACCTATACCACCC	0.398000													4	57					0.00909568	0.00947522	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856014	53856014	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856014T>G	ENST00000458035.1	+	4	2203	c.2086T>G	c.(2086-2088)Tgt>Ggt	p.C696G	ZNF845_ENST00000595091.1_Missense_Mutation_p.C696G	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	696				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGTAATGAGTGTGGCAAGAC	0.428000													9	97					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148912	105148912	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105148912C>A	ENST00000356362.2	-	2	262	c.48G>T	c.(46-48)ctG>ctT	p.L16L	PUS7_ENST00000469408.1_Silent_p.L16L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	16					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCGACAACCAGTGCCCCAC	0.433000													8	121					1.12685e-05	1.27857e-05	1	1	0
ADH5	128	broad.mit.edu	37	4	100002577	100002577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100002577G>T	ENST00000296412.8	-	4	333	c.283C>A	c.(283-285)Cca>Aca	p.P95T	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	95					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCACACTGTGGGATGTAAAGT	0.358000													6	12					0.000274275	0.000298791	1	1	0
FANCM	57697	broad.mit.edu	37	14	45645467	45645467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45645467G>A	ENST00000267430.5	+	14	3595	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	FANCM_ENST00000542564.2_Silent_p.T1144T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1170					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGTGAAACGCCTCTGGTCT	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				45	51					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42640395	42640395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42640395G>A	ENST00000318010.8	+	21	2639	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	800					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TATGGACTCCGGGTTGCTCTA	0.408000													12	17					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961460	51961460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961460G>A	ENST00000321424.3	-	1	248	c.182C>T	c.(181-183)cCa>cTa	p.P61L	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P61L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P61L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	61	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATGAACTGGGTCAGAGTC	0.602000													33	43					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554924	113554924	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113554924C>A	ENST00000546530.1	-	9	970	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	RASAL1_ENST00000548055.1_Missense_Mutation_p.G229C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.G229C|RASAL1_ENST00000446861.3_Missense_Mutation_p.G229C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	229					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGAACCAGCCTTTAGGTGGC	0.637000													22	29					1.10923e-09	1.35296e-09	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17597672	17597672	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597672G>A	ENST00000598424.1	+	0	760				SLC27A1_ENST00000442725.1_Silent_p.A156A|SLC27A1_ENST00000252595.7_Silent_p.A156A			Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1						cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCGCGCTGCTCAACG	0.706000													5	8					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69908877	69908877	+	Silent	SNP	C	C	T	rs150425244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908877C>T	ENST00000336643.5	+	3	975	c.297C>T	c.(295-297)caC>caT	p.H99H	SLC39A9_ENST00000557046.1_Silent_p.H99H|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Silent_p.H99H|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	99					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCACAGCCACGACCACACAC	0.463000													56	73					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989110	29989110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989110G>A	ENST00000308893.4	+	2	1060	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R6Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R6Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	6					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGGGGCCGGGCCGGGAGC	0.602000													3	23					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22218057	22218057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22218057A>G	ENST00000229329.2	+	8	1247	c.1117A>G	c.(1117-1119)Aat>Gat	p.N373D		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	373					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGATAGGAAATGAAGTGTC	0.413000													44	77					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53426541	53426541	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53426541T>C	ENST00000322213.4	-	16	2659	c.2532A>G	c.(2530-2532)aaA>aaG	p.K844K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	844					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTTTCATCTTTTTTCACTG	0.383000													18	66					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114688752	114688752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114688752G>T	ENST00000374279.3	+	5	984	c.534G>T	c.(532-534)caG>caT	p.Q178H	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	178					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGACAGACAGGGCTTTGCTG	0.443000													5	56					5.9392e-07	6.91975e-07	1	1	0
PHIP	55023	broad.mit.edu	37	6	79650991	79650991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79650991C>A	ENST00000275034.4	-	40	5052	c.4885G>T	c.(4885-4887)Gga>Tga	p.G1629*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1629					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATGGCTGTCCTCCATGGCCA	0.383000													21	116					1.9806e-07	2.3338e-07	1	1	0
ZNF600	162966	broad.mit.edu	37	19	53270475	53270475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53270475C>T	ENST00000338230.3	-	3	801	c.534G>A	c.(532-534)agG>agA	p.R178R		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTGTTTCCTTAAGAGTG	0.368000													62	102					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3658554	3658554	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3658554C>T	ENST00000263087.4	-	12	1339	c.1239_splice	c.e12-1	p.R414_splice		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	414					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCACCTGCCGCTGAAGGGG	0.731000													3	3					0	0	1	0	0
B4GALT6	9331	broad.mit.edu	37	18	29205652	29205652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29205652T>G	ENST00000306851.5	-	9	1370	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	B4GALT6_ENST00000237019.7_Missense_Mutation_p.K319N|B4GALT6_ENST00000383131.3_Missense_Mutation_p.K319N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CAACCAGTATTTTTGGCCTAT	0.353000													42	52					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761246	92761246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761246G>A	ENST00000318238.4	-	5	5255	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1347F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1347F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1347										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGGATTAAGATATTCCAAG	0.388000													7	196					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86227481	86227481	+	Missense_Mutation	SNP	T	T	C	rs138417324		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86227481T>C	ENST00000314673.3	-	23	2437	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	SNX14_ENST00000369627.2_Missense_Mutation_p.N745S|SNX14_ENST00000346348.3_Missense_Mutation_p.N701S|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.N702S|SNX14_ENST00000513865.1_Missense_Mutation_p.N473S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	754					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TACCTTCTTGTTGTTTTCTGA	0.348000													40	51					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71507838	71507838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71507838C>T	ENST00000396073.3	+	9	976	c.695C>T	c.(694-696)cCt>cTt	p.P232L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	232					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAGATCCTCCTAAAGCA	0.413000													74	94					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65639941	65639941	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65639941G>T	ENST00000308330.2	+	13	2598		c.e13-1			NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3						negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTACAACAGGGAAATTGGT	0.313000													8	52					0.000157383	0.00017284	1	1	0
UBN1	29855	broad.mit.edu	37	16	4925419	4925419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4925419C>T	ENST00000396658.4	+	14	3711	c.3008C>T	c.(3007-3009)tCg>tTg	p.S1003L	UBN1_ENST00000590769.1_Missense_Mutation_p.S1003L|UBN1_ENST00000262376.6_Missense_Mutation_p.S1003L|UBN1_ENST00000545171.1_Missense_Mutation_p.S1003L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGTGTGACATCGTCTACCTCC	0.597000													31	56					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074680	237074680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237074680G>A	ENST00000306318.4	-	2	1321	c.924C>T	c.(922-924)ggC>ggT	p.G308G	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AATTGGCATTGCCTGCCTTCA	0.597000													32	45					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46099832	46099832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099832C>T	ENST00000355105.3	-	9	2181	c.821G>A	c.(820-822)aGt>aAt	p.S274N	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S274N|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAGATTGGACTGGTAAAAGC	0.483000													28	41					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69991024	69991024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69991024C>T	ENST00000543146.2	+	11	1412	c.930C>T	c.(928-930)gaC>gaT	p.D310D	CCT2_ENST00000299300.6_Silent_p.D357D|CCT2_ENST00000544368.2_Silent_p.D357D	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	357					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGAGAAGACAAACTCATTC	0.413000													63	115					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384176	62384176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62384176G>T	ENST00000245663.4	-	4	1411	c.1261C>A	c.(1261-1263)Ccg>Acg	p.P421T	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P421T|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P421T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCAGTACGGACACTTGAAC	0.607000													13	20					6.31663e-08	7.49729e-08	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73442413	73442413	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73442413T>G	ENST00000556143.1	-	9	2372	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K136T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K537T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K136T|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K551T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	551						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTGTTGTCCTTCAGAAACCC	0.527000													7	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452805	179452805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179452805G>A	ENST00000589042.1	-	305	63553	c.63329C>T	c.(63328-63330)gCg>gTg	p.A21110V	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12045V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18542V|TTN_ENST00000359218.5_Missense_Mutation_p.A12170V|TTN_ENST00000342175.6_Missense_Mutation_p.A12237V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A19469V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGACGCATCTGCTAT	0.453000													31	33					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417586	40417586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40417586C>T	ENST00000333407.5	+	4	1166	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	358										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGGAGGGGCAGGAGGAGGG	0.716000													5	22					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72165699	72165699	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72165699C>T	ENST00000555818.1	+	11	3724	c.3374_splice	c.e11-1	p.L1126_splice	SIPA1L1_ENST00000537413.1_Splice_Site_p.L601_splice|SIPA1L1_ENST00000381232.3_Splice_Site_p.L1126_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.L1126_splice	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1126					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACATGCAGGCTGTCTCCTGG	0.428000													5	71					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368646	86368646	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86368646A>T	ENST00000400286.2	-	2	2596	c.1998T>A	c.(1996-1998)acT>acA	p.T666T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	666						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGTGTGATGAGTGGTTTTAT	0.448000													5	168					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915023	119915023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:119915023T>A	ENST00000331113.4	+	1	1302	c.337T>A	c.(337-339)Tct>Act	p.S113T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	113					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGAGTGCATCTCTGCTTACGA	0.527000													7	303					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138671301	138671301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138671301T>C	ENST00000298480.5	+	24	2900	c.2826T>C	c.(2824-2826)ctT>ctC	p.L942L	KCNT1_ENST00000490355.2_Silent_p.L921L|KCNT1_ENST00000263604.3_Silent_p.L923L|KCNT1_ENST00000488444.2_Silent_p.L923L|KCNT1_ENST00000486577.2_Silent_p.L901L|KCNT1_ENST00000487664.1_Silent_p.L897L|KCNT1_ENST00000371757.2_Silent_p.L942L|KCNT1_ENST00000491806.2_Silent_p.L909L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	942						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCTGGCTCTTTCCAAACTAG	0.607000													23	49					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26668285	26668285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26668285C>A	ENST00000226225.2	+	4	665	c.398C>A	c.(397-399)cCt>cAt	p.P133H	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.P29H|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	133					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCTACCAGCCTGTGTGCAAC	0.567000													9	102					0.00621372	0.00652201	1	1	0
MEX3D	399664	broad.mit.edu	37	19	1555379	1555379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1555379G>A	ENST00000388824.6	-	3	1951	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	MEX3D_ENST00000402693.4_3'UTR	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	0					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTCTCCGTCTCCACGCC	0.637000													17	25					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696663	153696663	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153696663G>T	ENST00000369682.3	+	23	4156	c.3981G>T	c.(3979-3981)gaG>gaT	p.E1327D		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1327					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACGTGGAGAAGGCCCTGC	0.672000													6	40					1.26484e-09	1.54084e-09	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33291101	33291101	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33291101G>A	ENST00000280979.4	+	13	4252	c.4082G>A	c.(4081-4083)gGc>gAc	p.G1361D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1361					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGAATTCAGGCAGTGAGAGT	0.458000													27	50					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43589768	43589768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589768G>A	ENST00000307126.5	-	11	1603	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	GTPBP2_ENST00000307114.7_Missense_Mutation_p.T447M|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	535							GTP binding|GTPase activity	p.T535M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCACTGCCGTCTGACGTAC	0.552000													5	87					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305208	44305208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44305208A>G	ENST00000264664.4	-	3	630	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	172					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TTTGCCTCCCATTATGCTGCC	0.408000													9	147					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181019222	181019222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181019222C>T	ENST00000367580.5	+	3	409	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MR1_ENST00000434571.2_Missense_Mutation_p.A135V|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Missense_Mutation_p.A135V	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGCAGTATGCATATGACGGG	0.512000													8	80					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834120	82834120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82834120T>G	ENST00000265077.3	+	8	5863	c.5298T>G	c.(5296-5298)gaT>gaG	p.D1766E	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D779E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1766	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCTAGTGATTCAGGTACCA	0.363000													31	61					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72412550	72412550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72412550C>T	ENST00000395270.1	+	14	2264	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	POM121_ENST00000446813.1_Missense_Mutation_p.A408V|POM121_ENST00000434423.2_Missense_Mutation_p.A673V|POM121_ENST00000358357.3_Missense_Mutation_p.A408V|POM121_ENST00000257622.4_Missense_Mutation_p.A408V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	673	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATGGTACCAGCCACTGACACC	0.627000													7	81					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18502922	18502922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502922C>A	ENST00000339007.3	-	2	1446	c.793G>T	c.(793-795)Gag>Tag	p.E265*	LRRC25_ENST00000595840.1_Nonsense_Mutation_p.E265*	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	265						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TCATTGTCCTCTGAAGGGTGA	0.562000													34	54					2.6416e-12	3.31947e-12	1	1	0
SFN	2810	broad.mit.edu	37	1	27190385	27190385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27190385A>G	ENST00000339276.4	+	1	753	c.682A>G	c.(682-684)Aca>Gca	p.T228A		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	228					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACAACCTGACACTGTGGAC	0.657000													4	58					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046551	34046551	+	Silent	SNP	G	G	A	rs145048151	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:34046551G>A	ENST00000354992.2	-	4	781	c.210C>T	c.(208-210)cgC>cgT	p.R70R	LARGE_ENST00000437602.2_Silent_p.R70R|LARGE_ENST00000337431.2_Silent_p.R70R|LARGE_ENST00000402320.1_Silent_p.R70R|LARGE_ENST00000397394.2_Silent_p.R70R|LARGE_ENST00000462606.1_5'UTR	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	70					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTCCACCTCGCGCATGCGCA	0.692000													7	56					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230398703	230398703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230398703G>A	ENST00000366672.4	+	13	1337	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.S384N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	422					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAACTCAGCTGCAAGCCT	0.403000													6	96					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153459	2153459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153459C>T	ENST00000262304.4	-	23	8807	c.8599G>A	c.(8599-8601)Gcc>Acc	p.A2867T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2867T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2867					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCTGAGGCCAGCCGCTCG	0.642000													19	52					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487536	76487536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487536C>A	ENST00000389840.5	-	43	6740	c.6616G>T	c.(6616-6618)Gat>Tat	p.D2206Y	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.D2215Y|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTTGTCATCCATGACTGTG	0.607000													6	10					0.00116845	0.00124821	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13122139	13122139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13122139C>T	ENST00000319217.7	-	37	5231	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	MPDZ_ENST00000546205.1_Missense_Mutation_p.E1676K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1662K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1662K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1662K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E521K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1629K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1662	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCTCCTTCTTCATAAACT	0.418000													11	32					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400738	56400738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56400738G>A	ENST00000355701.3	-	7	1895	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.S282L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.S342L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	342						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAGCTCCGATTCCTGAGG	0.587000													71	98					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292775	219292775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219292775G>T	ENST00000248444.5	+	5	523	c.435G>T	c.(433-435)aaG>aaT	p.K145N	VIL1_ENST00000440053.1_Missense_Mutation_p.K145N|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	145	Core.|LPA/PIP2-binding site 2.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCAAGAGGAACGTGG	0.642000													10	77					9.70103e-10	1.18443e-09	1	1	0
ACTR8	93973	broad.mit.edu	37	3	53911754	53911754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53911754G>A	ENST00000335754.3	-	4	530	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R33*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	144					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGCAGGTCGCATCTGCTTA	0.398000													30	36					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59777194	59777194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59777194G>T	ENST00000357637.5	-	17	1862	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	PIGN_ENST00000400334.3_Missense_Mutation_p.L483I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	483					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAGGCAGGAGATGGCTTGGT	0.338000													5	56					5.9392e-07	6.91975e-07	1	1	0
MFSD2A	84879	broad.mit.edu	37	1	40422876	40422876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40422876C>A	ENST00000372809.5	+	2	354	c.211C>A	c.(211-213)Cta>Ata	p.L71I	MFSD2A_ENST00000372811.5_Missense_Mutation_p.L71I|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	71					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGATCTACCTATTGGATGT	0.537000													17	191					5.03518e-11	6.25324e-11	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25792085	25792085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792085C>T	ENST00000399878.3	-	12	2190	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	SEL1L3_ENST00000502949.1_Missense_Mutation_p.A537T|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A655T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	690						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGAGCTGCTGCATTGCCT	0.428000													23	25					0	0	1	0	0
PPP2CA	5515	broad.mit.edu	37	5	133541666	133541666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133541666C>T	ENST00000481195.1	-	2	539	c.259G>A	c.(259-261)Gtt>Att	p.V87I	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000518409.1_5'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTGTCAACATAATCTCCC	0.373000													5	54					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151065934	151065934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151065934C>T	ENST00000568733.1	+	11	1347	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	NUB1_ENST00000355851.4_Silent_p.N403N|NUB1_ENST00000413040.2_Silent_p.N427N|NUB1_ENST00000566856.1_Silent_p.N403N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	403	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGATGGGAACGTGGATCATG	0.473000													29	76					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13054427	13054427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13054427C>T	ENST00000316448.5	+	8	1110	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	346	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAACGAGACGTGGGGCGTA	0.602000													20	36					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73562688	73562688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73562688C>T	ENST00000224721.6	+	53	7536	c.7531C>T	c.(7531-7533)Cgg>Tgg	p.R2511W	CDH23_ENST00000398788.3_Missense_Mutation_p.R266W|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587000													15	17					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746812	156746812	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156746812A>G	ENST00000347377.6	+	14	1830	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	CYFIP2_ENST00000541131.1_Missense_Mutation_p.M392V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M271V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M141V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.M441V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M467V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M467V	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	467					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGCAGGATGGAGAGCGT	0.607000													4	58					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764715	40764715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40764715G>A	ENST00000397128.2	-	8	1344	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.R461*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	446					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTCCTTCGTACACGCAAA	0.353000													4	48					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267041	16267041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267041G>T	ENST00000343518.6	-	9	1459	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403000													30	446					2.85442e-18	3.71821e-18	1	1	0
GBA3	57733	broad.mit.edu	37	4	22729372	22729372	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729372G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCAGCGGTCGTAATCTGTCA	0.398000													66	98					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026221	103026221	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103026221C>T	ENST00000375735.2	+	25	3879	c.3735C>T	c.(3733-3735)gcC>gcT	p.A1245A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A1245A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1245	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGCTGCCGACCTTAAAG	0.348000													14	17					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514424	34514424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514424C>T	ENST00000242317.4	+	17	1773	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	534					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATTCCTCGACACCTATGACG	0.557000									Kartagener syndrome				8	111					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137939699	137939699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939699G>T	ENST00000441825.2	-	1	142	c.105C>A	c.(103-105)caC>caA	p.H35Q	FGF13_ENST00000370603.3_Missense_Mutation_p.H64Q|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	203					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTCTTTGTGGTGTACTTGCT	0.443000													10	133					2.27111e-07	2.66951e-07	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30722093	30722093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30722093G>A	ENST00000262518.4	+	9	1538	c.1153G>A	c.(1153-1155)Gct>Act	p.A385T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A385T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A385T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	385	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACCCTCTGCTGTCACACA	0.463000													25	27					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108871448	108871448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108871448C>A	ENST00000332884.6	+	5	1779	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.L293I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	502					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGAATTATTCCTAATGTTTGT	0.413000													9	127					0.000442599	0.00048047	1	1	0
GPR63	0	broad.mit.edu	37	6	97247454	97247454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97247454C>T	ENST00000229955.3	-	2	499	c.154G>A	c.(154-156)Gct>Act	p.A52T	GPR63_ENST00000417980.1_Missense_Mutation_p.A52T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	52						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGTGGGAGCCATGGTTTCA	0.448000													11	35					0	0	1	0	0
CCL27	10850	broad.mit.edu	37	9	34662395	34662395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34662395C>A	ENST00000259631.4	-	2	147	c.89G>T	c.(88-90)aGc>aTc	p.S30I	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	30					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCAGTGCTGGGTGGCAG	0.562000													9	19					0.0692343	0.0706532	1	1	0
MTCH1	23787	broad.mit.edu	37	6	36949430	36949430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949430G>A	ENST00000373627.5	-	2	464	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	MTCH1_ENST00000373616.5_Missense_Mutation_p.P114S|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	114					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGGTGGGGGGCATCGGCTCA	0.577000													8	16					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823262	38823262	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38823262G>A	ENST00000303592.3	-	2	1134	c.876C>T	c.(874-876)ggC>ggT	p.G292G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	292					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTCCACCATGCCCTCCAGGA	0.617000													6	17					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15680614	15680614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15680614G>A	ENST00000300006.4	+	6	902	c.543G>A	c.(541-543)aaG>aaA	p.K181K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_3'UTR|C16orf45_ENST00000452191.2_Silent_p.K164K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CACCTAGCAAGCCCACGGTGG	0.632000													6	8					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102503964	102503964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102503964C>T	ENST00000321521.9	+	19	2824	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L751F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L751F|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	751					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATATAGGCTTTCGAAGGC	0.284000													44	77					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233785012	233785012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233785012C>A	ENST00000264051.3	-	5	1088	c.810G>T	c.(808-810)gaG>gaT	p.E270D	NGEF_ENST00000373552.4_Missense_Mutation_p.E178D|NGEF_ENST00000409079.1_Missense_Mutation_p.E178D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	270	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTAATCTCCTCGGGCTGTA	0.652000													20	31					2.54575e-18	3.31776e-18	1	1	0
DSP	1832	broad.mit.edu	37	6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7584793G>A	ENST00000379802.3	+	24	7639	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_ENST00000418664.2_Missense_Mutation_p.C1834Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2433	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413000													14	86					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37350344	37350344	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37350344T>C	ENST00000231498.3	-	7	950	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP155_ENST00000381843.2_Silent_p.Q190Q|NUP155_ENST00000513532.1_Silent_p.Q249Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	249					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTACATCTTTGGCTAAACC	0.343000													6	95					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108047023	108047023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108047023G>A	ENST00000278612.8	-	12	1187	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	361					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGTTTCATCTGCTAAGACTAT	0.289000													24	38					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34446286	34446286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34446286G>A	ENST00000374012.3	+	5	532	c.403G>A	c.(403-405)Gct>Act	p.A135T	PHF20_ENST00000439301.1_Missense_Mutation_p.A135T|PHF20_ENST00000481202.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATGTCAAAGCTTTTTCCAA	0.303000													31	73					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11597974	11597974	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11597974C>A	ENST00000293771.5	-	5	1308		c.e5-1		CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTCCTTCTCTACAGGGTGG	0.652000													18	58					1.01871e-10	1.25892e-10	1	1	0
EPX	8288	broad.mit.edu	37	17	56271114	56271114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56271114C>T	ENST00000225371.5	+	4	496	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	129					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCCCAGGCCAGTGGCTGT	0.632000													4	12					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18661965	18661965	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18661965C>T	ENST00000380548.4	+	9	1318	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	ADAMTSL1_ENST00000276935.6_Silent_p.L327L|ADAMTSL1_ENST00000327883.7_Silent_p.L327L|ADAMTSL1_ENST00000380566.4_Silent_p.L327L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	327						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCTACGATCTGAGGAGCAA	0.438000													28	41					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872744	55872744	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55872744A>T	ENST00000313503.1	+	1	226	c.226A>T	c.(226-228)Act>Tct	p.T76S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGTTACTCAACTGTCGTCAC	0.433000										HNSCC(53;0.14)			146	249					0	0	1	0	0
C8orf59	401466	broad.mit.edu	37	8	86129663	86129663	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86129663G>T	ENST00000417663.2	-	2	137	c.66C>A	c.(64-66)aaC>aaA	p.N22K	C8orf59_ENST00000524353.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518562.1_Missense_Mutation_p.N22K|C8orf59_ENST00000421308.2_Missense_Mutation_p.N22K|C8orf59_ENST00000321777.5_Missense_Mutation_p.N22K|C8orf59_ENST00000431163.2_Missense_Mutation_p.N22K|C8orf59_ENST00000458398.2_Missense_Mutation_p.N22K|C8orf59_ENST00000545322.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518091.1_Missense_Mutation_p.N22K	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	TAGCCTTAAAGTTTTTTTGGC	0.338000													28	61					2.49675e-24	3.31153e-24	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510670	48510670	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48510670A>G	ENST00000446524.1	+	1	402	c.326A>G	c.(325-327)gAg>gGg	p.E109G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGTGGGTCAGAGGTCTTTCTC	0.463000													3	100					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175440048	175440048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175440048C>A	ENST00000392547.2	-	4	341	c.242G>T	c.(241-243)gGc>gTc	p.G81V	WIPF1_ENST00000272746.5_Missense_Mutation_p.G81V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G81V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G81V|WIPF1_ENST00000409415.3_Missense_Mutation_p.G81V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.G81V|WIPF1_ENST00000392546.2_Missense_Mutation_p.G81V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	81	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acctcctccgccaaatccgcc	0.617000													30	49					6.38683e-12	7.9998e-12	1	1	0
PCSK9	255738	broad.mit.edu	37	1	55523723	55523723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55523723A>G	ENST00000302118.5	+	8	1485	c.1195A>G	c.(1195-1197)Atg>Gtg	p.M399V	PCSK9_ENST00000543384.1_Missense_Mutation_p.M199V|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	399	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCAGCCATGATGCTGTCTGC	0.607000													3	58					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325155	179325155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179325155A>G	ENST00000409117.3	+	6	1104	c.748A>G	c.(748-750)Aat>Gat	p.N250D	DFNB59_ENST00000375129.4_Missense_Mutation_p.N250D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	250					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAGGTTGAGAAATATCCTATT	0.343000													7	50					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14852272	14852272	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14852272A>G	ENST00000282096.4	+	8	2189	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E	PDE3B_ENST00000455098.2_Silent_p.E561E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	612					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCGAAAGAATCATTCAAAC	0.318000													17	17					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397730	139397730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397730G>A	ENST00000277541.6	-	27	5146	c.5071C>T	c.(5071-5073)Cag>Tag	p.Q1691*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1691					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGAAGCACTGCGAGGAGGCC	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	24					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962634	167962634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167962634G>A	ENST00000367840.3	+	7	953	c.859G>A	c.(859-861)Gca>Aca	p.A287T	DCAF6_ENST00000367843.3_Missense_Mutation_p.A287T|DCAF6_ENST00000312263.6_Missense_Mutation_p.A287T|DCAF6_ENST00000432587.2_Missense_Mutation_p.A256T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	287					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATGATACAGCACGAGAACT	0.448000													5	74					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45000096	45000096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45000096G>A	ENST00000372176.1	-	19	1900	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	ELMO2_ENST00000396391.1_Missense_Mutation_p.R566W|ELMO2_ENST00000439931.2_Missense_Mutation_p.R578W|ELMO2_ENST00000445496.2_Missense_Mutation_p.R383W|ELMO2_ENST00000290246.6_Missense_Mutation_p.R566W|ELMO2_ENST00000454865.2_Missense_Mutation_p.R298W|ELMO2_ENST00000352077.2_Missense_Mutation_p.R564W			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	566	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACCAGAACCGTTCTGGAACA	0.557000													26	30					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053084	39053084	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39053084G>A	ENST00000295373.6	-	16	3045	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	973	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAAATGGAAGCAGACCCCAG	0.458000													23	39					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957735	121957735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:121957735G>A	ENST00000379692.4	-	4	1917	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	464	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CACGGTGGCTGAGGAACAGGT	0.438000													7	157					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640431	179640431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640431C>T	ENST00000589042.1	-	28	6384	c.6160G>A	c.(6160-6162)Gcc>Acc	p.A2054T	TTN_ENST00000460472.2_Missense_Mutation_p.A2008T|TTN_ENST00000360870.5_Missense_Mutation_p.A2054T|TTN_ENST00000342992.6_Missense_Mutation_p.A2054T|TTN_ENST00000359218.5_Missense_Mutation_p.A2008T|TTN_ENST00000342175.6_Missense_Mutation_p.A2008T|TTN_ENST00000591111.1_Missense_Mutation_p.A2054T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1823							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTCGGCAAGAGCTTTC	0.413000													60	90					0	0	1	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24620580	24620580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24620580C>T	ENST00000558468.1	+	1	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	RNF31_ENST00000382687.3_Nonsense_Mutation_p.R426*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.R577*|RNF31_ENST00000559275.1_Nonsense_Mutation_p.R426*																							GAGGACCAGGCGAAGGAAGGT	0.577000													15	15					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108687461	108687461	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108687461A>G	ENST00000368977.4	+	6	859	c.673A>G	c.(673-675)Att>Gtt	p.I225V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	225							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGATGCCATGATTCTGAAACA	0.378000													3	30					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885670	45885670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45885670G>A	ENST00000007414.3	-	23	2707	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A839V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	839					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGCACGGCCCCATCCAT	0.662000													7	7					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895757	77895757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77895757C>T	ENST00000262198.4	+	4	2916	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	821					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTGCTCTTTCCCCACCTTGA	0.498000													41	36					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82451005	82451005	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82451005A>G	ENST00000370728.1	+	23	4107	c.3462A>G	c.(3460-3462)tcA>tcG	p.S1154S	LPHN2_ENST00000370727.1_Silent_p.S1169S|LPHN2_ENST00000370715.1_Silent_p.S1141S|LPHN2_ENST00000359929.3_Silent_p.S1141S|LPHN2_ENST00000370717.2_Silent_p.S1169S|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370725.1_Silent_p.S1169S|LPHN2_ENST00000319517.6_Silent_p.S1141S|LPHN2_ENST00000271029.4_Silent_p.S1169S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S1154S|LPHN2_ENST00000335786.5_Silent_p.S1154S|LPHN2_ENST00000370721.1_Silent_p.S1079S|LPHN2_ENST00000370723.1_Silent_p.S1156S|LPHN2_ENST00000394879.1_Silent_p.S1156S			O95490	LPHN2_HUMAN	latrophilin 2	1154					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTTATCTCAGGTGACATCA	0.294000													7	92					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043152	46043152	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46043152A>G	ENST00000295452.4	-	9	1418	c.1251T>C	c.(1249-1251)tgT>tgC	p.C417C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTCAAAGCAACAGAAGAAGC	0.418000													8	81					0	0	1	0	0
SOCS5	0	broad.mit.edu	37	2	46986948	46986948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46986948C>T	ENST00000306503.5	+	2	1451	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H427Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	427	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGATCCCTGCATGCCCGAAT	0.498000													5	100					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872343	237872343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237872343G>A	ENST00000366574.2	+	69	10404	c.10087G>A	c.(10087-10089)Gcc>Acc	p.A3363T	RYR2_ENST00000542537.1_Missense_Mutation_p.A3347T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3361T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3363					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCACACTGGCCAGAGATCT	0.473000													14	19					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961455	1961455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1961455C>A	ENST00000378585.4	+	9	1176	c.1093C>A	c.(1093-1095)Ctc>Atc	p.L365I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	365						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTCTTCTCCCTCTCTGCTGC	0.692000													7	29					3.09899e-07	3.63227e-07	1	1	0
NAMPT	10135	broad.mit.edu	37	7	105925305	105925305	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105925305A>G	ENST00000222553.3	-	1	333	c.26T>C	c.(25-27)tTc>tCc	p.F9S	NAMPT_ENST00000354289.4_Missense_Mutation_p.F9S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	9					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGGATGTTGAACTCGGCTTC	0.692000													5	5					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418855	31418855	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31418855A>G	ENST00000389202.2	+	8	773	c.724A>G	c.(724-726)Aag>Gag	p.K242E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	242	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTTCATCATAAGAATGGGGC	0.473000													3	76					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38245666	38245666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38245666T>C	ENST00000450525.2	+	9	1681	c.1190T>C	c.(1189-1191)tTc>tCc	p.F397S	THRA_ENST00000394121.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F397S|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Intron	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ACCGAACTCTTCCCCCCACTC	0.622000													13	27					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000													11	110					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33134814	33134814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33134814G>T	ENST00000375030.2	+	17	1755	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	C10orf68_ENST00000375028.3_Missense_Mutation_p.K424N|C10orf68_ENST00000375025.4_Missense_Mutation_p.K484N			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	420										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAGGAATTCTTGG	0.348000													30	61					4.02929e-09	4.87747e-09	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151165238	151165238	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165238G>T	ENST00000282466.3	-	4	2530	c.2531C>A	c.(2530-2532)cCt>cAt	p.P844H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	844					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCACAACAGGAGAGAATTC	0.388000													30	210					5.60225e-13	7.08299e-13	1	1	0
RAI14	26064	broad.mit.edu	37	5	34803818	34803818	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34803818A>G	ENST00000265109.3	+	5	545	c.256_splice	c.e5-1	p.G86_splice	RAI14_ENST00000506376.1_Splice_Site_p.G78_splice|RAI14_ENST00000512629.1_Splice_Site_p.G86_splice|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Splice_Site_p.G86_splice|RAI14_ENST00000515799.1_Splice_Site_p.G89_splice|RAI14_ENST00000397449.1_Splice_Site_p.G79_splice|RAI14_ENST00000503673.1_Splice_Site_p.G86_splice	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	86						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tCCATTTAGGACACAGCGCCT	0.358000													6	7					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67572650	67572650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67572650C>T	ENST00000540839.3	+	4	460	c.240C>T	c.(238-240)tcC>tcT	p.S80S	FAM65A_ENST00000042381.4_Silent_p.S60S|FAM65A_ENST00000422602.2_Silent_p.S80S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000428437.2_Silent_p.S74S|FAM65A_ENST00000379312.3_Silent_p.S64S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	64						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGATGTTTTCCGTGGCTCACC	0.677000													4	91					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57303715	57303715	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303715A>C	ENST00000288266.3	+	22	2277	c.2130A>C	c.(2128-2130)taA>taC	p.*710Y	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	0					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGAAGCATAAGCTTATACTT	0.413000													34	52					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328128	126328128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126328128C>T	ENST00000394329.3	+	3	5414	c.5401C>T	c.(5401-5403)Cgg>Tgg	p.R1801W	FAT4_ENST00000335110.5_Missense_Mutation_p.R99W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1801	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACCAGGCGGTTGGACAG	0.458000													41	73					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129937013	129937013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129937013C>T	ENST00000259351.5	+	11	1129	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RALGPS1_ENST00000424082.2_Missense_Mutation_p.P288S|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P288S|RALGPS1_ENST00000373436.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000373434.1_Missense_Mutation_p.P288S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	288	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGAATCGAACCAGGAAGCAG	0.468000													53	89					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35446068	35446068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35446068G>A	ENST00000338863.7	-	7	741	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TEAD3_ENST00000402886.3_Missense_Mutation_p.P112S	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	172	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGGGTCCAGGCTGCTGTCCC	0.607000													10	13					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869006	107869006	+	Missense_Mutation	SNP	G	G	A	rs104886210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107869006G>A	ENST00000328300.6	+	35	3332	c.3088G>A	c.(3088-3090)Ggt>Agt	p.G1030S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1030S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1030	Triple-helical region.		G -> S (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGAACCATCGGTGATATGGG	0.408000									Alport syndrome with Diffuse Leiomyomatosis				3	39					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30096138	30096138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30096138G>A	ENST00000279387.7	+	8	924	c.756G>A	c.(754-756)acG>acA	p.T252T	PPP4C_ENST00000561610.1_Silent_p.T252T	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	252					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TCAATGAGACGGTGCTCACTG	0.612000													48	80					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784470	130784470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784470C>A	ENST00000265909.4	-	1	1934	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	SNX19_ENST00000533214.1_Missense_Mutation_p.E455D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	455					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTTGTTCTATCTCCTTGTCTG	0.547000													7	86					1.06961e-07	1.26574e-07	1	1	0
HLA-E	3133	broad.mit.edu	37	6	30459017	30459017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30459017G>A	ENST00000376630.4	+	4	779	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CACTGACCTGGCAGCAGGATG	0.632000													31	53					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47707522	47707522	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707522A>G	ENST00000525123.1	-	11	1996	c.1711T>C	c.(1711-1713)Tgt>Cgt	p.C571R	AGBL2_ENST00000528244.1_Missense_Mutation_p.C533R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.C571R|AGBL2_ENST00000298861.4_Missense_Mutation_p.C571R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	571					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGTTATTACAGCCATACAGG	0.368000													4	148					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088295	52088295	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088295G>A	ENST00000495880.1	-	2	796	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	DUSP7_ENST00000296483.6_Silent_p.L154L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	205	Ser-rich.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGGCCCAGCACTGAGGTG	0.637000													22	30					0	0	1	0	0
CHRM5	0	broad.mit.edu	37	15	34355303	34355303	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355303T>C	ENST00000383263.5	+	3	1055	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Y129H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	129					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTTTGACCGTTACTTTTCCAT	0.532000													4	66					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241496	38241496	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38241496T>C	ENST00000302609.7	-	6	1142	c.930A>G	c.(928-930)ggA>ggG	p.G310G	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGGGTTTCTCTCCTGTGTGAC	0.433000													8	25					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405204	135405204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405204A>G	ENST00000394143.1	+	5	629	c.338A>G	c.(337-339)cAc>cGc	p.H113R	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.H113R|GPR112_ENST00000287534.4_Missense_Mutation_p.H50R|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCGTCACCACCTGGCTTCA	0.443000													23	182					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57220284	57220284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57220284C>A	ENST00000205214.6	-	8	1484	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	AASDH_ENST00000502617.1_Missense_Mutation_p.G435V|AASDH_ENST00000451613.1_Missense_Mutation_p.G435V|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.G335V|AASDH_ENST00000602986.1_Missense_Mutation_p.G282V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	435					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAAATCTCTCCATCTTTCAC	0.403000													20	38					3.51602e-12	4.4132e-12	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228487783	228487783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487783G>T	ENST00000570156.2	+	51	13749	c.13675G>T	c.(13675-13677)Gat>Tat	p.D4559Y	OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1249Y|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3602	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCATAGCAGATGCTGGAGA	0.557000													28	32					5.45727e-16	7.024e-16	1	1	0
AVL9	23080	broad.mit.edu	37	7	32615649	32615649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32615649C>T	ENST00000318709.4	+	13	1874	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Silent_p.S551S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	551						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGGAACAGCAACAAGCATC	0.398000													45	128					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351787	132351787	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351787G>T	ENST00000310125.4	-	1	589	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	167						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCACGTTTAAGGCATCGTAGG	0.502000													24	45					2.32416e-17	3.01417e-17	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854500	37854500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37854500C>T	ENST00000591471.1	+	9	2625	c.984C>T	c.(982-984)caC>caT	p.H328H	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Silent_p.H583H|HKR1_ENST00000392153.3_Silent_p.H582H|HKR1_ENST00000541583.2_Silent_p.H540H|HKR1_ENST00000544914.1_Silent_p.H328H|HKR1_ENST00000324411.4_Silent_p.H601H			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGCACACGCAGGGGGGA	0.532000													24	39					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696355	7696355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696355G>T	ENST00000572933.1	+	48	8861	c.7401G>T	c.(7399-7401)aaG>aaT	p.K2467N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K2467N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2467	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCGAACCAAGGGTGTCTACG	0.517000													36	31					6.19805e-25	8.23186e-25	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27518325	27518325	+	Silent	SNP	C	C	T	rs148269085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518325C>T	ENST00000356183.4	-	9	1410	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	GTF3C1_ENST00000561623.1_Silent_p.S465S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	465						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGCAGAAGCGACTCCTCCT	0.597000													18	25					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416681	30416681	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416681C>T	ENST00000333027.3	+	17	3361	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	MTMR3_ENST00000323630.5_Silent_p.S875S|MTMR3_ENST00000406629.1_Silent_p.S1011S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Silent_p.S1011S|MTMR3_ENST00000401950.2_Silent_p.S1011S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1011					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCAGCCTTCCCGCAGCCACC	0.572000													14	16					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363000													7	59					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098592	11098592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11098592C>T	ENST00000358026.2	+	6	1394	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	SMARCA4_ENST00000590574.1_Silent_p.R370R|SMARCA4_ENST00000413806.3_Silent_p.R370R|SMARCA4_ENST00000344626.4_Silent_p.R370R|SMARCA4_ENST00000541122.2_Silent_p.R370R|SMARCA4_ENST00000589677.1_Silent_p.R370R|SMARCA4_ENST00000429416.3_Silent_p.R370R|SMARCA4_ENST00000444061.3_Silent_p.R370R|SMARCA4_ENST00000450717.3_Silent_p.R370R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	370					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCAGGAGCGCGAGTACAGGT	0.662000			"""F, N, Mis"""		NSCLC								10	4					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69908929	69908929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908929G>A	ENST00000336643.5	+	3	1027	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	117					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTGGGCTTCGTTTTCATGTT	0.488000													18	159					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770993	37770993	+	Silent	SNP	G	G	A	rs146700910	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770993G>A	ENST00000402918.1	-	3	1367	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ELFN2_ENST00000349653.3_Silent_p.F194F|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	194	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGGAAGCCGAAGAGGTCGC	0.647000													13	19					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739101	164739101	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164739101G>T	ENST00000264382.3	-	27	3232	c.3170C>A	c.(3169-3171)aCt>aAt	p.T1057N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1057	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTCATAAGTACTTATTGG	0.353000										HNSCC(35;0.089)			6	217					0.00198382	0.00210581	1	1	0
ZFYVE21	79038	broad.mit.edu	37	14	104194142	104194142	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104194142G>A	ENST00000216602.6	+	3	361	c.249G>A	c.(247-249)ccG>ccA	p.P83P	ZFYVE21_ENST00000311141.2_Silent_p.P83P	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	83						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AGAAGGTGCCGCTGCGGCGCA	0.662000													16	26					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230239	69230239	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69230239T>C	ENST00000542259.1	-	22	2951	c.2500A>G	c.(2500-2502)Aaa>Gaa	p.K834E	FRMD4B_ENST00000398540.3_Missense_Mutation_p.K888E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.K540E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	888						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATGTTTTTGGTGATGTGC	0.567000													4	43					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406793	75406793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75406793G>A	ENST00000394810.2	-	4	2766	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P649S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	873	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAGGCGATAGGGCCAGGAGTC	0.572000													11	143					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50031781	50031781	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50031781C>T	ENST00000376042.1	+	4	396	c.96_splice	c.e4-1	p.T33_splice	CCNB3_ENST00000276014.7_Splice_Site_p.T33_splice|CCNB3_ENST00000376038.1_Splice_Site_p.T33_splice|CCNB3_ENST00000348603.2_Splice_Site_p.T33_splice			Q8WWL7	CCNB3_HUMAN	cyclin B3	33					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTTTTAGACGGGGGAGAAT	0.438000													11	16					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079447	100079447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100079447G>A	ENST00000375202.2	+	23	2380	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	CCDC180_ENST00000411667.2_Missense_Mutation_p.R340H|CCDC180_ENST00000395220.1_Missense_Mutation_p.R482H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R343H|CCDC180_ENST00000357054.1_Missense_Mutation_p.R482H|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		AGCCGCCACCGCTGGCAAGGC	0.622000													13	32					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94399627	94399627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94399627C>A	ENST00000260731.3	+	17	2327	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	746					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAGAAACCACTTAGTAGT	0.323000													32	43					1.06801e-11	1.33396e-11	1	1	0
MME	4311	broad.mit.edu	37	3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	rs150836510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAGAAACAGCGATGGACTCC	0.433000													39	78					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4317620	4317620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4317620C>A	ENST00000337872.4	+	7	1665	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGGAAAGTCTTTTAATATG	0.463000													33	57					1.06801e-11	1.33396e-11	1	1	0
SIRT4	23409	broad.mit.edu	37	12	120741693	120741693	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120741693T>C	ENST00000202967.4	+	2	388	c.329T>C	c.(328-330)tTc>tCc	p.F110S	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGAAACTTCGTAGGCTGG	0.577000													6	28					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62556618	62556618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62556618G>A	ENST00000333449.4	+	2	225	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.A74T	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	74						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGGCCTCTTGGCCCTCTACTG	0.602000													38	39					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474581	102474581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102474581C>T	ENST00000360184.4	+	29	6048	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1962	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGTTCAACCGCCTGGAGGA	0.572000													16	36					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369603	2369603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369603C>A	ENST00000301732.5	-	8	1552	c.852G>T	c.(850-852)caG>caT	p.Q284H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q284H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	284					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTCCTTCTCCTGCACGACAG	0.607000													18	33					5.03518e-11	6.25324e-11	1	1	0
CD68	968	broad.mit.edu	37	17	7484215	7484215	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7484215G>A	ENST00000250092.6	+	5	973	c.760_splice	c.e5-1	p.Q254_splice	CD68_ENST00000380498.6_Splice_Site_p.Q227_splice	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	254			Q -> K (in dbSNP:rs25679).			endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTCCTCCAGAGTGGACATTCT	0.547000													26	31					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519234	58519234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58519234G>A	ENST00000302819.5	-	5	812	c.521C>T	c.(520-522)gCc>gTc	p.A174V	ACOX2_ENST00000459701.2_Missense_Mutation_p.A174V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	174					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCCTGGGTGGCTGCGTCATA	0.547000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	60					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237001797	237001797	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237001797C>T	ENST00000366577.5	+	15	1807	c.1413C>T	c.(1411-1413)agC>agT	p.S471S	MTR_ENST00000535889.1_Silent_p.S471S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	471	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCAATAGCATTAGTCTGA	0.458000													40	99					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138091848	138091848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138091848C>A	ENST00000289104.4	+	2	770	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MRAS_ENST00000423968.2_Missense_Mutation_p.D41E|MRAS_ENST00000474559.1_Missense_Mutation_p.D41E|MRAS_ENST00000464896.1_Intron	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	41					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGTGCCTGACTATGACCCCA	0.542000													18	126					2.94398e-08	3.51695e-08	1	1	0
AIMP1	9255	broad.mit.edu	37	4	107253040	107253040	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:107253040G>T	ENST00000394701.4	+	5	716	c.675_splice	c.e5+1	p.Q225_splice	AIMP1_ENST00000442366.1_Splice_Site_p.Q201_splice|AIMP1_ENST00000358008.3_Splice_Site_p.Q201_splice	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	201	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTCTTGAACAGGTAATCTGTA	0.393000													43	84					2.19962e-31	2.94966e-31	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93784717	93784717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93784717G>A	ENST00000265990.6	+	35	5376	c.5068G>A	c.(5068-5070)Gtt>Att	p.V1690I	BTAF1_ENST00000544642.1_Missense_Mutation_p.V518I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1690	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTCCATTGTTTCCCGGTA	0.373000													10	79					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273046	28273046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28273046C>T	ENST00000354638.3	-	4	641	c.486G>A	c.(484-486)ccG>ccA	p.P162P	OCA2_ENST00000353809.5_Silent_p.P162P|OCA2_ENST00000382996.2_Silent_p.P162P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	162					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCGGATGTGCGGGCTGTCCA	0.622000									Oculocutaneous Albinism				15	36					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31725128	31725128	+	Silent	SNP	G	G	A	rs144091980		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31725128G>A	ENST00000320027.5	-	7	1208	c.864C>T	c.(862-864)atC>atT	p.I288I	HSPH1_ENST00000380406.5_Silent_p.I247I|HSPH1_ENST00000429785.2_Silent_p.I107I|HSPH1_ENST00000380405.4_Silent_p.I288I|HSPH1_ENST00000445273.2_Silent_p.I290I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	288					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAAAGCATTCGATATTCAGTG	0.373000													12	34					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995560	38995560	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38995560C>A	ENST00000381938.3	-	3	524	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	139						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTTAAAGTGCTGACAAGGTG	0.358000													37	46					3.03874e-20	3.98683e-20	1	1	0
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333000													13	21					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16343580	16343580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16343580G>A	ENST00000311890.9	-	2	1148	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	HSPB7_ENST00000487046.1_Missense_Mutation_p.R113W|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112W|HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000375718.4_Missense_Mutation_p.R183W	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGCCCGCACCTCGATG	0.572000													20	60					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70229955	70229955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70229955C>T	ENST00000342771.4	+	8	1753	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q478*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	478										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGAAGTCTGCAGGTGGCCGG	0.662000													12	20					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969868	87969868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87969868G>A	ENST00000369577.3	+	8	6564	c.6521G>A	c.(6520-6522)tGt>tAt	p.C2174Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C2169Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCGATGTCAGGTAAGT	0.368000													68	99					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75911063	75911063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75911063G>T	ENST00000377636.3	-	8	2071	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	575						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTACCCTTGAGAAGATATTTT	0.378000													4	47					1.23904e-05	1.39987e-05	1	1	0
CELA2A	63036	broad.mit.edu	37	1	15789914	15789914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789914C>T	ENST00000359621.4	+	5	415	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCTAACCCCGTCTCCCTCA	0.617000													3	61					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73249650	73249650	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73249650C>A	ENST00000272433.2	-	5	462		c.e5+1		SFXN5_ENST00000474528.1_Splice_Site|SFXN5_ENST00000410065.1_Splice_Site	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGAGCTTACCTGACATTCT	0.547000													6	10					3.59834e-05	4.01776e-05	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24798711	24798711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798711C>T	ENST00000310677.4	-	10	1359	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	ADCY4_ENST00000396747.3_Missense_Mutation_p.A109T|ADCY4_ENST00000554068.2_Missense_Mutation_p.A416T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A416T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	416					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAGCAGGGCCAGGGTAGCC	0.627000													19	24					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161137785	161137785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161137785C>A	ENST00000308192.9	+	7	840	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	259	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGTGACATCCCCCGCTGCA	0.517000													11	29					4.36969e-10	5.35656e-10	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6531734	6531734	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6531734C>T	ENST00000361413.3	-	3	779	c.421G>A	c.(421-423)Gac>Aac	p.D141N	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	141						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCCTGTGGTCGGGTATTTTA	0.423000													24	30					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681528	3681528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681528G>A	ENST00000250693.1	+	3	880	c.779G>A	c.(778-780)gGc>gAc	p.G260D		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	260					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTGGCCCAGGGCCCCGCCCGC	0.612000													22	35					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122106112	122106112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122106112G>A	ENST00000263710.4	-	38	4778	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	CLASP1_ENST00000397587.3_Silent_p.V1403V|CLASP1_ENST00000541377.1_Silent_p.V1402V|CLASP1_ENST00000545861.1_Silent_p.V1170V|CLASP1_ENST00000541859.1_Silent_p.V1180V|CLASP1_ENST00000455322.2_Silent_p.V1419V|CLASP1_ENST00000409078.3_Silent_p.V1396V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1463	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTCGACAAGGAGCT	0.567000													8	9					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81069745	81069745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81069745C>T	ENST00000299575.4	+	1	294	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	90					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCGTGCGCGGCTGCGGCAAGA	0.746000													9	8					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459934	82459934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82459934C>A	ENST00000369754.3	-	3	1176	c.864G>T	c.(862-864)caG>caT	p.Q288H	FAM46A_ENST00000369756.3_Missense_Mutation_p.Q350H|FAM46A_ENST00000320172.6_Missense_Mutation_p.Q269H			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	269										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGCTTCCTGGAAATCGC	0.478000													16	39					1.56452e-12	1.96987e-12	1	1	0
WNK3	65267	broad.mit.edu	37	X	54359998	54359998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54359998C>T	ENST00000354646.2	-	2	547	c.109G>A	c.(109-111)Gct>Act	p.A37T	WNK3_ENST00000375159.2_Missense_Mutation_p.A37T|WNK3_ENST00000375169.3_Missense_Mutation_p.A37T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	37					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTAGTCTAGCTTCTACTGTC	0.428000													55	75					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2093650	2093650	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2093650G>A	ENST00000219066.1	-	4	645	c.627C>T	c.(625-627)gcC>gcT	p.A209A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	209					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCACCAGCTCGGCCACAGAGG	0.622000								Base excision repair (BER), DNA glycosylases					9	20					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112685974	112685974	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112685974C>A	ENST00000550722.1	-	27	4102	c.3705_splice	c.e27-1	p.S1236_splice	HECTD4_ENST00000430131.2_Splice_Site_p.S960_splice|HECTD4_ENST00000377560.5_Splice_Site_p.S1210_splice	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTCTGCAACACTCTAATAAAT	0.284000													8	7					1.12685e-05	1.27857e-05	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23217682	23217682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23217682G>A	ENST00000389131.3	-	3	821	c.452C>T	c.(451-453)aCg>aTg	p.T151M	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	151	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.T151M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GACATCCTCCGTGTGCTTGCA	0.527000													13	25					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50250053	50250053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50250053C>T	ENST00000357464.3	+	5	595	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	PAPD5_ENST00000436909.3_Missense_Mutation_p.R278W|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Missense_Mutation_p.R211W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	199					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAAGCTCTTCGGAAACACAA	0.423000													31	62					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129184752	129184752	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129184752A>G	ENST00000540052.1	+	10	4723	c.4679A>G	c.(4678-4680)tAc>tGc	p.Y1560C	BCORL1_ENST00000359304.2_Missense_Mutation_p.Y1430C|BCORL1_ENST00000303743.5_Missense_Mutation_p.Y1634C|BCORL1_ENST00000218147.7_Missense_Mutation_p.Y1560C	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1560					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGATTTTTACAGCAGTTCT	0.502000													21	177					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781930	3781930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3781930C>A	ENST00000262367.5	-	29	5546	c.4737G>T	c.(4735-4737)caG>caT	p.Q1579H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1541H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1579	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tgctgtcgCCCTGACTGCCCT	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						10	92					2.27111e-07	2.66951e-07	1	1	0
ETFDH	2110	broad.mit.edu	37	4	159624692	159624692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159624692G>T	ENST00000511912.1	+	10	1566	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	ETFDH_ENST00000307738.5_Nonsense_Mutation_p.E365*	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	412					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTAGCAGCAGAATCTATTTT	0.338000													13	75					1.61879e-10	1.99744e-10	1	1	0
KCNAB2	8514	broad.mit.edu	37	1	6154464	6154464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6154464C>T	ENST00000164247.1	+	11	1071	c.507C>T	c.(505-507)acC>acT	p.T169T	KCNAB2_ENST00000341524.1_Silent_p.T169T|KCNAB2_ENST00000352527.1_Silent_p.T155T|KCNAB2_ENST00000458166.2_Silent_p.T102T|KCNAB2_ENST00000602612.1_Silent_p.T169T|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378083.3_Silent_p.T217T|KCNAB2_ENST00000378092.1_Silent_p.T155T|KCNAB2_ENST00000378097.1_Silent_p.T169T|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	169						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGAGACCGTCCGCGCCA	0.637000													4	6					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441824	57441824	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57441824T>C	ENST00000442789.2	-	4	466	c.179A>G	c.(178-180)gAg>gGg	p.E60G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E60G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	60	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCAATGAACTCTGGCCCATA	0.493000													4	61					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72324206	72324206	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72324206C>A	ENST00000263563.6	+	19	2617	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCCTGATTCTCTTCAACGCGT	0.637000													9	125					6.40141e-05	7.11719e-05	1	1	0
IRF5	3663	broad.mit.edu	37	7	128588072	128588072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128588072G>T	ENST00000402030.2	+	7	1101	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	IRF5_ENST00000477535.1_Missense_Mutation_p.K257N|IRF5_ENST00000473745.1_Missense_Mutation_p.K343N|IRF5_ENST00000357234.5_Missense_Mutation_p.K359N|IRF5_ENST00000249375.4_Missense_Mutation_p.K343N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	343					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAGTGCAAGGTGTTCTGGA	0.592000													5	118					0.014758	0.0152625	1	1	0
INTU	27152	broad.mit.edu	37	4	128626796	128626796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626796C>T	ENST00000335251.5	+	11	1720	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	539										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGATATTGCCGTATACTGTC	0.403000													19	166					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169141091	169141091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169141091C>T	ENST00000256935.8	+	18	1799	c.1719C>T	c.(1717-1719)caC>caT	p.H573H	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.H65H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	573	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATCGACACCATGTGGAAA	0.567000													12	35					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194972	19194972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19194972G>A	ENST00000562034.1	+	3	4069	c.271G>A	c.(271-273)Gac>Aac	p.D91N	SYT17_ENST00000568115.1_Missense_Mutation_p.D91N|SYT17_ENST00000355377.2_Missense_Mutation_p.D152N|SYT17_ENST00000562711.2_Missense_Mutation_p.D148N			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	152						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537000													27	35					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45479009	45479009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45479009T>C	ENST00000291574.4	+	6	879	c.704T>C	c.(703-705)aTg>aCg	p.M235T	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTTTCGAGATGCTGCAGCAG	0.473000													30	44					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152730694	152730694	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152730694C>A	ENST00000367255.5	-	43	6982	c.6381_splice	c.e43+1	p.K2127_splice	SYNE1_ENST00000341594.5_Splice_Site_p.K2164_splice|SYNE1_ENST00000265368.4_Splice_Site_p.K2127_splice|SYNE1_ENST00000448038.1_Splice_Site_p.K2134_splice|SYNE1_ENST00000423061.1_Splice_Site_p.K2134_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2127					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAATTTTACCTTGGAAAAAG	0.333000										HNSCC(10;0.0054)			4	54					0.150653	0.152692	1	1	0
FCHSD2	9873	broad.mit.edu	37	11	72726854	72726854	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72726854C>A	ENST00000409314.1	-	4	410	c.242_splice	c.e4+1	p.R81_splice	FCHSD2_ENST00000311172.7_Splice_Site_p.R25_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.R81_splice|FCHSD2_ENST00000409853.1_Splice_Site_p.R25_splice|FCHSD2_ENST00000458644.2_5'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	81							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTAATTTACCTGTAATCATT	0.308000													4	20					0.00909568	0.00947522	1	1	0
EFNA5	1946	broad.mit.edu	37	5	106722938	106722938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:106722938G>A	ENST00000333274.6	-	4	844	c.563C>T	c.(562-564)gCa>gTa	p.A188V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	188					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ATACTAACCTGCTGGTTCTAA	0.328000													7	13					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10124164	10124164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10124164G>T	ENST00000591589.1	+	1	240	c.51G>T	c.(49-51)gaG>gaT	p.E17D	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGTCCAGGGAGGGGATCAACA	0.612000													6	44					5.18039e-06	5.91835e-06	1	1	0
C1orf131	128061	broad.mit.edu	37	1	231362753	231362753	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231362753A>G	ENST00000318906.2	-	4	600	c.572T>C	c.(571-573)cTg>cCg	p.L191P	C1orf131_ENST00000366651.3_Missense_Mutation_p.L190P|C1orf131_ENST00000366649.2_Missense_Mutation_p.L191P			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	191										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTGTTCCAGGATTCTCTC	0.483000													20	45					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838933	222838933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838933G>A	ENST00000344922.5	+	28	5721	c.5696G>A	c.(5695-5697)tGt>tAt	p.C1899Y	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.C777Y|MIA3_ENST00000344441.6_Missense_Mutation_p.C1899Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1899					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGACTGTTCACAGGCT	0.473000													13	167					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599172	28599172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28599172G>A	ENST00000253063.3	+	5	939	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	206					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCCACTCGCTCTCCTCCT	0.642000													38	47					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292324	33292324	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33292324T>C	ENST00000373475.5	+	3	878	c.624T>C	c.(622-624)aaT>aaC	p.N208N	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.N208N|S100PBP_ENST00000398243.3_Silent_p.N208N	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	208						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGCCTGGAATGGGCCCCAGC	0.443000													8	84					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619249	6619249	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6619249G>A	ENST00000315579.5	+	4	1011	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	NCAPD2_ENST00000545962.1_Intron	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	71	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTCACTTTCGAAGTATAGAT	0.463000													6	27					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161619	141161619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161619C>T	ENST00000514251.1	+	4	668	c.389C>T	c.(388-390)tCc>tTc	p.S130F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S131F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S130F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	130					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCTCAAATTCCCCGGGTCCC	0.433000													19	28					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520201	137520201	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137520201C>A	ENST00000394894.3	+	13	1745	c.1518_splice	c.e13-1	p.L507_splice	KIF20A_ENST00000508792.1_Splice_Site_p.L489_splice	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	507					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCCCTCTAGCTTGTGCATGC	0.478000													5	134					0.000602214	0.000649039	1	1	0
ZNF224	7767	broad.mit.edu	37	19	44610651	44610651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44610651G>T	ENST00000336976.6	+	6	592	c.338G>T	c.(337-339)aGg>aTg	p.R113M	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	113					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GATTTAACCAGGTCTCAAGAC	0.428000													4	73					0.00909568	0.00947522	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160496974	160496974	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160496974G>A	ENST00000356956.1	+	36	5410	c.5262G>A	c.(5260-5262)aaG>aaA	p.K1754K		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1754					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGCGGACAAGCATTTCAACT	0.463000													10	85					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321276	129321276	+	Silent	SNP	G	G	A	rs139211336	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129321276G>A	ENST00000281437.4	+	4	915	c.819G>A	c.(817-819)tcG>tcA	p.S273S	BARX2_ENST00000526127.1_Silent_p.S128S|BARX2_ENST00000531946.1_Silent_p.S151S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	273										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TACCCTCTTCGGAACCCCCAC	0.542000													25	38					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76726652	76726652	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76726652C>A	ENST00000538941.2	-	26	3280		c.e26-1		SCAPER_ENST00000563290.1_Splice_Site|SCAPER_ENST00000324767.7_Splice_Site	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER							endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAACATAAACCTAGATGAAAA	0.318000													4	58					0.00909568	0.00947522	1	1	0
TLE2	7089	broad.mit.edu	37	19	3005496	3005496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3005496G>A	ENST00000262953.6	-	17	2097	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	TLE2_ENST00000591529.1_Missense_Mutation_p.T626M|TLE2_ENST00000426948.2_Missense_Mutation_p.T626M|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.T490M|TLE2_ENST00000447365.2_Missense_Mutation_p.T279M|TLE2_ENST00000455444.2_Missense_Mutation_p.T490M|TLE2_ENST00000590536.1_Missense_Mutation_p.T613M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	612					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCGCACCGTGTTGTCCAG	0.642000													10	8					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617030	79617030	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617030G>A	ENST00000296739.4	+	1	1241	c.996G>A	c.(994-996)caG>caA	p.Q332Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATCTTACAGCAGAGAGTAG	0.418000													43	51					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357981	112357981	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112357981A>G	ENST00000206423.3	-	2	1725	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	CCDC80_ENST00000439685.2_Missense_Mutation_p.Y258H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	258										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGACCTCGTACATGGCTTCC	0.557000													4	85					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173744789	173744789	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173744789T>A	ENST00000209884.4	+	10	1582	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P	KLHL20_ENST00000546011.1_Silent_p.P293P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	482					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTTACAATCCTCAGGAAAACA	0.453000													4	33					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145153817	145153817	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145153817G>T	ENST00000398712.2	-	8	1564	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	376					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAAGTGCAGGGCCTCTGGG	0.632000													12	19					1.61879e-10	1.99744e-10	1	1	0
VPS33A	65082	broad.mit.edu	37	12	122716793	122716793	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716793C>A	ENST00000267199.4	-	13	1903	c.1791G>T	c.(1789-1791)taG>taT	p.*597Y	RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	0					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTGAACATCCTAGAAAGGTT	0.398000													77	119					1.42954e-44	1.93023e-44	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18324748	18324748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18324748C>T	ENST00000441493.2	-	20	2993	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	MICAL3_ENST00000383094.3_Missense_Mutation_p.A881T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A909T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A909T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A881T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A881T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	881						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTCGCTTGGCGATGCTGGGC	0.662000													8	19					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677140	73677140	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677140T>A	ENST00000264448.6	+	8	3594	c.3483T>A	c.(3481-3483)acT>acA	p.T1161T	ALMS1_ENST00000409009.1_Silent_p.T1119T|ALMS1_ENST00000377715.1_Silent_p.T1161T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1161	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGGTACTCATATACCTG	0.463000													19	180					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085687	42085687	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42085687T>C	ENST00000407170.2	+	4	835	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	0						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACACTTTCTGTTGGTCACTCT	0.512000													3	32					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121184565	121184565	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121184565T>C	ENST00000392870.2	+	6	830	c.501T>C	c.(499-501)ttT>ttC	p.F167F	GRK5_ENST00000369108.3_Silent_p.F62F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	167	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCATGTTTTTTGACCGCTTTC	0.463000													6	58					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845586	20845586	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845586T>C	ENST00000262715.5	-	41	5981	c.5941A>G	c.(5941-5943)Aag>Gag	p.K1981E	TEP1_ENST00000556935.1_Missense_Mutation_p.K1873E|TEP1_ENST00000545983.1_Missense_Mutation_p.K319E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1981					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCAATACCTTGGGGCTTAGC	0.582000													20	34					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55206493	55206493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55206493G>A	ENST00000396834.1	+	14	2074	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	IL31RA_ENST00000354961.4_Silent_p.L526L|IL31RA_ENST00000447346.2_Silent_p.L545L|IL31RA_ENST00000359040.5_Silent_p.L545L|IL31RA_ENST00000490985.1_Silent_p.L403L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	513					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAAGACATTGTCATTCAGTG	0.478000													8	97					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270343	84270343	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84270343T>A	ENST00000568181.1	-	2	869	c.749A>T	c.(748-750)gAg>gTg	p.E250V	KCNG4_ENST00000308251.4_Missense_Mutation_p.E250V			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCTGGTCCTCCTCTGCCCT	0.617000													3	19					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466584	10466584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466584G>A	ENST00000382483.3	-	4	5247	c.5024C>T	c.(5023-5025)aCa>aTa	p.T1675I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1675					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCCCCATTGTGGCCTTGGG	0.627000													34	59					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17753751	17753751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17753751G>A	ENST00000428389.2	-	21	2638	c.2639C>T	c.(2638-2640)tCt>tTt	p.S880F	UNC13A_ENST00000552293.1_Missense_Mutation_p.S792F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S792F|UNC13A_ENST00000550896.1_Missense_Mutation_p.S790F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S792F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S792F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	792					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGACACGGCAGATTTGTCAGT	0.507000													3	9					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184070836	184070836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184070836C>T	ENST00000265593.4	-	18	2299	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.G666R|CLCN2_ENST00000344937.7_Missense_Mutation_p.G693R|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.G710R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	710						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGACTCTCTCCGAGGTTCCTG	0.607000													62	86					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712304	46712304	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46712304C>A	ENST00000454366.1	+	7	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294000													61	83					4.48484e-38	6.04334e-38	1	1	0
KIAA1328	57536	broad.mit.edu	37	18	34415334	34415334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34415334G>T	ENST00000591619.1	+	3	1006	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	KIAA1328_ENST00000543923.1_Start_Codon_SNP_p.M1I|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.E78*			Q86T90	K1328_HUMAN	KIAA1328	78										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTCAGTAGATGAACAGGTTAG	0.398000													43	89					3.54909e-21	4.66696e-21	1	1	0
TEX14	56155	broad.mit.edu	37	17	56635179	56635179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56635179C>A	ENST00000389934.3	-	32	4537	c.4420G>T	c.(4420-4422)Ggt>Tgt	p.G1474C	TEX14_ENST00000584699.1_Intron|TEX14_ENST00000349033.5_Missense_Mutation_p.G1434C|TEX14_ENST00000240361.8_Missense_Mutation_p.G1480C	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1480						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACCAACCTAGTCGCTTC	0.348000													37	79					5.20837e-25	6.91842e-25	1	1	0
ELF1	1997	broad.mit.edu	37	13	41525483	41525483	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41525483G>A	ENST00000239882.3	-	4	657	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	ELF1_ENST00000442101.1_Silent_p.L115L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	115					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTTCATCCAGCATAGGGCCA	0.373000													3	45					0	0	1	0	0
LNX2	0	broad.mit.edu	37	13	28136762	28136762	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28136762A>G	ENST00000316334.3	-	5	1141	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	338							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCACTTGGAAAATCTCTTCT	0.488000													4	57					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422400	95422400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95422400G>A	ENST00000371447.3	+	20	2505	c.2367_splice	c.e20+1	p.K789_splice	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	789					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTATATAAGGTAAGTAAGC	0.289000													10	14					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266781	139266781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139266781G>A	ENST00000450536.2	-	3	905	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	REPS1_ENST00000409812.2_Missense_Mutation_p.R111C|REPS1_ENST00000367663.4_Missense_Mutation_p.R111C|REPS1_ENST00000415951.2_Missense_Mutation_p.R111C|REPS1_ENST00000258062.5_Missense_Mutation_p.R111C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	111	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTGCATGGCGAGATTCCTGT	0.413000													39	70					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174777882	174777882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174777882G>A	ENST00000310015.6	-	6	2475	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	SP3_ENST00000455789.2_Missense_Mutation_p.R596C|SP3_ENST00000418194.2_Missense_Mutation_p.R581C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	649					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACAAAAGGGCGTTCTCCAGAA	0.408000													24	38					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5781604	5781604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5781604C>T	ENST00000328090.5	+	13	2096	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	491																	TGCTTCAAAGCTTCAATCAGA	0.348000													23	35					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986283	42986283	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42986283G>T	ENST00000326974.4	+	6	917	c.722G>T	c.(721-723)aGc>aTc	p.S241I	KLHDC3_ENST00000332245.8_Missense_Mutation_p.S182I|KLHDC3_ENST00000244670.8_Missense_Mutation_p.S107I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	241					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCGCCGGAGCCACTCGGCC	0.557000													7	151					1.06961e-07	1.26574e-07	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18874841	18874841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18874841C>T	ENST00000388995.6	-	6	2526	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	FAM83G_ENST00000345041.4_Missense_Mutation_p.R768H|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R768H|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	768										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTCATGGGGCGGGCATTTTG	0.657000													12	130					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876628	27876628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876628G>A	ENST00000374011.2	-	6	2967	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R667W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	667	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCCACGCCGCCGGAAGCCC	0.672000													21	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456584	179456584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179456584C>A	ENST00000589042.1	-	303	60186	c.59962G>T	c.(59962-59964)Gat>Tat	p.D19988Y	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10923Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17420Y|TTN_ENST00000359218.5_Missense_Mutation_p.D11048Y|TTN_ENST00000342175.6_Missense_Mutation_p.D11115Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18347Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18347	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAACATCTACATGGTGC	0.413000													20	35					1.96292e-10	2.41709e-10	1	1	0
PCBP4	57060	broad.mit.edu	37	3	51994012	51994012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51994012C>A	ENST00000461554.1	-	8	746	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000355852.2_Missense_Mutation_p.G139W|PCBP4_ENST00000471622.1_Missense_Mutation_p.G139W|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000322099.7_Missense_Mutation_p.G139W|PCBP4_ENST00000395014.2_Missense_Mutation_p.G160W|PCBP4_ENST00000484633.1_Intron	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	139	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCAGGTCCCCTGCCACCTGT	0.597000													4	65					0.184627	0.186383	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70465908	70465908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70465908C>T	ENST00000373998.1	-	16	3274	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	ZMYM3_ENST00000373988.1_Silent_p.V873V|ZMYM3_ENST00000314425.5_Silent_p.V871V|ZMYM3_ENST00000373984.3_Silent_p.V873V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Silent_p.V871V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	871					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGAAGATGGGCACTGGGATGG	0.577000													20	72					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913277	129913277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913277C>A	ENST00000368654.3	-	7	1770	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	465					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCCAATTTCTCAGGCTTGC	0.413000													7	195					2.17888e-05	2.45068e-05	1	1	0
HOXB4	3214	broad.mit.edu	37	17	46654355	46654355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46654355G>T	ENST00000332503.5	-	2	2276	c.485C>A	c.(484-486)cCc>cAc	p.P162H	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGAGCGCTTGGGCTCCCCGCC	0.582000													17	44					2.89027e-11	3.59474e-11	1	1	0
RABL6	55684	broad.mit.edu	37	9	139726740	139726740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139726740G>A	ENST00000371675.3	+	7	1163	c.278G>A	c.(277-279)cGc>cAc	p.R93H	RABL6_ENST00000371663.4_Missense_Mutation_p.R209H|RABL6_ENST00000357466.2_Missense_Mutation_p.R208H|RABL6_ENST00000371671.4_Missense_Mutation_p.R208H|RABL6_ENST00000311502.7_Missense_Mutation_p.R208H|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.R170H					RAB, member RAS oncogene family-like 6																		TCCTACTTCCGCTATGCTGAG	0.493000													25	49					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419010	41419010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41419010G>A	ENST00000551295.2	+	21	2699	c.2582G>A	c.(2581-2583)aGc>aAc	p.S861N	CNTN1_ENST00000348761.2_Missense_Mutation_p.S850N|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.S861N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	861	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAGTCACCAGCCAAGAGTAC	0.483000													49	179					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958729	102958729	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958729A>G	ENST00000311734.2	+	6	996	c.657A>G	c.(655-657)caA>caG	p.Q219Q	IL1RL1_ENST00000404917.2_Silent_p.Q102Q|IL1RL1_ENST00000233954.1_Silent_p.Q219Q|IL1RL1_ENST00000409584.1_Silent_p.Q219Q			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	219	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCCCTGCACAAAATGAAATAA	0.353000													18	38					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109411018C>A	ENST00000295124.4	+	5	477	c.417C>A	c.(415-417)acC>acA	p.T139T	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.T139T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388000													5	57					2.0095e-06	2.31757e-06	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222713568	222713568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222713568C>T	ENST00000343410.6	-	4	1292	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	412					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCATAGATGGCGGGGTGGGCC	0.587000													29	41					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21946512	21946512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21946512A>G	ENST00000542643.2	-	5	316	c.14T>C	c.(13-15)aTg>aCg	p.M5T	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M5T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M69T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M36T	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	5	GoLoco.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCACCTGCATCTTCTCAAT	0.617000													14	38					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662884	138662884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138662884C>T	ENST00000298480.5	+	18	2025	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q612*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q606*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q651*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q618*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	651						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTCTCGGGGCAGGGGCTGCA	0.647000													11	7					0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99213591	99213591	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213591G>A	ENST00000393760.1	+	8	1075	c.726G>A	c.(724-726)gcG>gcA	p.A242A	ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370854.3_Silent_p.A242A|ZDHHC16_ENST00000353979.3_Silent_p.A203A|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	242					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACTACAGGCGGTTGCCAACC	0.577000													5	44					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110452580	110452580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110452580C>T	ENST00000265175.5	+	20	3347	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1063C|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1128C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1098					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATGATCGTGTATATGC	0.358000													29	51					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865846	144865846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144865846G>A	ENST00000369359.4	-	38	6180	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1912*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478000			T	PDGFRB	MPD								15	358					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325951	114325951	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325951A>G	ENST00000335678.6	+	3	1197	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	322	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGCCCGAGAACGTGCTGCTG	0.473000													4	4					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88218790	88218790	+	Silent	SNP	G	G	A	rs143256744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88218790G>A	ENST00000298767.5	-	12	3085	c.2613C>T	c.(2611-2613)taC>taT	p.Y871Y	WAPAL_ENST00000372075.1_Silent_p.Y138Y|WAPAL_ENST00000263070.7_Silent_p.Y138Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	871	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.Y871Y(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCTATCAAGTAGCTTTGAT	0.284000													22	44					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914418	45914418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45914418G>A	ENST00000269025.4	+	8	1261	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCAGCCACAGCCCCCAAGGC	0.572000													42	63					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875795	42875795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42875795C>T	ENST00000431473.3	+	4	751	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	208	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTAGGGGGCCAGGTCATAGG	0.527000													5	72					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11361333	11361333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11361333C>A	ENST00000315872.6	-	9	1698	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ROCK2_ENST00000401753.1_Missense_Mutation_p.R174I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	417	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATTTTCTCTATAGTAGGT	0.308000													5	125					0.00116845	0.00124821	1	1	0
TSPAN32	10077	broad.mit.edu	37	11	2334930	2334930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2334930C>T	ENST00000182290.4	+	5	538	c.401C>T	c.(400-402)gCg>gTg	p.A134V	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.A123V|TSPAN32_ENST00000381121.3_Missense_Mutation_p.A134V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TATGAGCAGGCGATGAAAGGT	0.662000													3	5					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612000													59	77					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173606	86173606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173606G>A	ENST00000431532.2	-	2	393	c.245C>T	c.(244-246)aCg>aTg	p.T82M	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.T121M	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	121	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACTACTATCCGTCTCCTGCTT	0.507000													52	27					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94645258	94645258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94645258G>A	ENST00000258526.4	+	15	3084	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	945					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCCACATGGTATTTTCTGA	0.473000													16	23					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558831	129558831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129558831G>T	ENST00000422113.2	-	9	3215	c.2889C>A	c.(2887-2889)gaC>gaA	p.D963E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D501E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	963						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCCAACCCAGTCATGAGAGT	0.468000													12	97					0.000151284	0.000166931	1	1	0
TTN	7273	broad.mit.edu	37	2	179588275	179588275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179588275G>A	ENST00000589042.1	-	74	21776	c.21552C>T	c.(21550-21552)aaC>aaT	p.N7184N	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.N5940N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.N6867N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6867	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAATAGATGTTGCACCGGT	0.433000													8	37					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103434650	103434650	+	Silent	SNP	G	G	A	rs144299645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103434650G>A	ENST00000361246.2	-	16	2574	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	762					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTCGTTCGTATTTATCTT	0.388000													47	83					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66974239	66974239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66974239G>A	ENST00000317091.4	+	4	1714	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	CES2_ENST00000417689.1_Missense_Mutation_p.G244S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	180					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTACCGCCTGGGTGTCCTGGG	0.607000													35	33					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37184477	37184477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37184477G>A	ENST00000338564.5	-	13	1756	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.P444L|MEIS2_ENST00000382766.2_Missense_Mutation_p.P437L|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	444					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GTGGGTAGGGGGTCCTCCGTG	0.512000													8	343					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166563	59166563	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59166563A>G	ENST00000262717.4	+	3	789	c.391A>G	c.(391-393)Act>Gct	p.T131A	CDH20_ENST00000536675.2_Missense_Mutation_p.T131A|CDH20_ENST00000538374.1_Missense_Mutation_p.T131A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAGTATACTCTAAGGGC	0.542000													8	13					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75809691	75809691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75809691C>A	ENST00000306726.2	-	5	949	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	146	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTCCATTCCTCTGAGTTTC	0.398000													4	44					0.00909568	0.00947522	1	1	0
RRBP1	6238	broad.mit.edu	37	20	17608171	17608171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17608171G>A	ENST00000377813.1	-	10	3209	c.2906C>T	c.(2905-2907)gCg>gTg	p.A969V	RRBP1_ENST00000455029.2_Missense_Mutation_p.A310V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A969V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A536V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A536V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	969					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCATCCCGCGCCTGGCCCGC	0.672000													26	24					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451634	110451634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451634G>A	ENST00000260283.4	-	16	2320	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A653V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A656V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A222V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A653V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	679					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGCACATGGCAGATGGGGC	0.532000													31	30					0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17601078	17601078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17601078C>T	ENST00000331437.3	-	1	1065	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	314	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCAGGTAGGCGAAGGCGAAC	0.731000													11	23					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906257	5906257	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5906257T>C	ENST00000316987.2	+	1	757	c.735T>C	c.(733-735)caT>caC	p.H245H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCTCATGTCTGTGTTA	0.403000													99	79					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31295069	31295069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31295069C>T	ENST00000542188.1	-	27	4198	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.T1278T|TRPM1_ENST00000397795.2_Silent_p.T1256T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1256					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453000													26	46					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64145736	64145736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64145736G>A	ENST00000295902.6	-	4	861	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PRICKLE2_ENST00000564377.1_Silent_p.S148S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	92	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCATCCAGGGAGTTGCAAT	0.493000													38	59					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395910	138395910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395910G>T	ENST00000371785.1	+	5	1031	c.822G>T	c.(820-822)caG>caT	p.Q274H	MRPS2_ENST00000241600.5_Missense_Mutation_p.Q274H|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	274					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ATCGCCTGCAGGGCCAGAAGG	0.637000													12	11					4.93089e-13	6.23885e-13	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112673464	112673464	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112673464G>A	ENST00000550722.1	-	36	5526	c.5131C>T	c.(5131-5133)Ctg>Ttg	p.L1711L	HECTD4_ENST00000430131.2_Silent_p.L1435L|HECTD4_ENST00000377560.5_Silent_p.L1685L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATCAGGGGCAGCGCCGCCCGG	0.592000													11	30					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114757976	114757976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114757976G>A	ENST00000334062.7	-	22	2351	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	RASA3_ENST00000389544.4_Silent_p.L712L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	744					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTCTCCAGCTTGCTCATG	0.602000													3	24					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621219	144621219	+	Silent	SNP	C	C	T	rs150401031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621219C>T	ENST00000262577.5	-	2	349	c.318G>A	c.(316-318)ccG>ccA	p.P106P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	106					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CATGCTGCTGCGGGACAGGAG	0.632000													39	55					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134707898	134707898	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134707898A>G	ENST00000370752.4	+	12	1875	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	514										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCTTATGATATTCCCCGT	0.338000													32	41					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775374	23775374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23775374G>T	ENST00000354639.3	+	7	1096	c.632G>T	c.(631-633)aGg>aTg	p.R211M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.R211M|STK31_ENST00000355870.3_Missense_Mutation_p.R234M|STK31_ENST00000433467.2_Missense_Mutation_p.R234M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	234							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGTTCTCAGGAACCTCAAA	0.453000													6	74					0.00116845	0.00124821	1	1	0
TGIF1	7050	broad.mit.edu	37	18	3457843	3457843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3457843G>A	ENST00000472042.1	+	2	1648	c.664G>A	c.(664-666)Gac>Aac	p.D222N	TGIF1_ENST00000548489.2_Missense_Mutation_p.D256N|TGIF1_ENST00000343820.5_Missense_Mutation_p.D242N|TGIF1_ENST00000551541.1_Missense_Mutation_p.D222N|TGIF1_ENST00000407501.2_Missense_Mutation_p.D242N|TGIF1_ENST00000401449.1_Missense_Mutation_p.D222N|TGIF1_ENST00000405385.3_Missense_Mutation_p.D222N|TGIF1_ENST00000345133.5_Missense_Mutation_p.D222N|TGIF1_ENST00000400167.2_Missense_Mutation_p.D222N|TGIF1_ENST00000330513.5_Missense_Mutation_p.D371N			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	371					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TACTCCACCGGACCTCAACCA	0.493000													24	28					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763476	82763476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763476C>T	ENST00000373200.2	+	1	208	c.144C>T	c.(142-144)agC>agT	p.S48S	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	48					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GAGTTCCCAGCAATGGGCATC	0.622000													7	10					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44687263	44687263	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44687263G>T	ENST00000372257.2	-	9	1162	c.981C>A	c.(979-981)ggC>ggA	p.G327G	ERI3_ENST00000537474.1_Silent_p.G150G|ERI3_ENST00000372259.5_Silent_p.G212G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	327						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGATGAAGCCTCGATAGG	0.527000													5	34					0.00198382	0.00210581	1	1	0
AFF3	3899	broad.mit.edu	37	2	100210459	100210459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210459G>A	ENST00000317233.4	-	14	1899	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V	AFF3_ENST00000409236.1_Missense_Mutation_p.A555V|AFF3_ENST00000409579.1_Missense_Mutation_p.A580V|AFF3_ENST00000356421.2_Missense_Mutation_p.A580V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	555					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACCGCCACGGCCACGGCCGC	0.711000													4	71					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446342	29446342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446342G>A	ENST00000544604.2	+	8	2348	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A625T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A625T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A625T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	725						integral to membrane	zinc ion binding	p.A625P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTAGCGCCGGAGCAGC	0.726000													4	16					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889457	105889457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105889457G>A	ENST00000393359.2	-	10	2253	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	TGFBRAP1_ENST00000258449.1_Silent_p.H609H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	609					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTAAGTGGGTGTGATACTCTT	0.592000													7	54					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066718	88066718	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88066718C>T	ENST00000393207.1	+	9	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000393208.2_Missense_Mutation_p.P317L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000538234.1_Missense_Mutation_p.P356L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652000													3	14					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096535	183096535	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183096535A>G	ENST00000258341.4	+	17	3376	c.3119A>G	c.(3118-3120)gAt>gGt	p.D1040G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1040	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGTAAAGGATAAGGTAAGC	0.443000													23	21					0	0	1	0	0
GMNN	51053	broad.mit.edu	37	6	24784318	24784318	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24784318A>T	ENST00000230056.3	+	5	610	c.278A>T	c.(277-279)aAt>aTt	p.N93I	GMNN_ENST00000356509.3_Missense_Mutation_p.N93I	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	93	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						attttaGAAAATCCATCCTCT	0.303000													8	17					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794150	10794150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794150G>A	ENST00000449870.1	+	15	2112	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	ILF3_ENST00000589998.1_Missense_Mutation_p.A595T|ILF3_ENST00000588657.1_Missense_Mutation_p.A599T|ILF3_ENST00000250241.8_Missense_Mutation_p.A595T|ILF3_ENST00000318511.3_Missense_Mutation_p.A595T|ILF3_ENST00000592763.1_Missense_Mutation_p.A599T|ILF3_ENST00000420083.1_Missense_Mutation_p.A595T|ILF3_ENST00000590261.1_Missense_Mutation_p.A595T|ILF3_ENST00000407004.3_Missense_Mutation_p.A599T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	595					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACCCCTCTCGCCCTTGATGC	0.552000													25	42					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136699435	136699435	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136699435G>T	ENST00000329582.4	+	2	464		c.e2+1		IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Splice_Site	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta							integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATACCAGGGGTGAGTTTTTT	0.478000													52	71					9.45407e-15	1.20887e-14	1	1	0
GPR65	0	broad.mit.edu	37	14	88477671	88477671	+	Silent	SNP	C	C	T	rs139775422	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88477671C>T	ENST00000267549.3	+	2	1038	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	160					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGAATATTGCGATGCCGAAA	0.398000													49	79					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141050955	141050955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141050955C>T	ENST00000239440.4	-	13	1932	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	ARAP3_ENST00000508305.1_Missense_Mutation_p.A545T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A285T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	623					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTGCCACAGCTGCACACAGT	0.587000													17	27					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309235	38309235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309235G>A	ENST00000399120.1	-	5	1740	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HLCS_ENST00000336648.3_Silent_p.S170S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	170					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGGAGTCGGAGCCCACAT	0.577000													18	24					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926866	43926866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926866G>A	ENST00000537548.1	-	8	1614	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	MATN4_ENST00000372751.4_Missense_Mutation_p.T308M|MATN4_ENST00000342716.4_Missense_Mutation_p.T457M|MATN4_ENST00000372754.1_Missense_Mutation_p.T498M|MATN4_ENST00000353917.5_Missense_Mutation_p.T375M|MATN4_ENST00000372753.1_Missense_Mutation_p.T308M|MATN4_ENST00000360607.5_Missense_Mutation_p.T416M|MATN4_ENST00000372756.1_Missense_Mutation_p.T457M			O95460	MATN4_HUMAN	matrilin 4	498	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGGCCATCCGTGAAGACCAG	0.667000													18	28					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111629770	111629770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111629770C>A	ENST00000502935.1	-	19	1833	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.D529Y|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	529					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403000													10	23					7.03913e-09	8.47891e-09	1	1	0
E4F1	1877	broad.mit.edu	37	16	2285119	2285119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2285119A>G	ENST00000301727.4	+	13	2021	c.1973A>G	c.(1972-1974)gAg>gGg	p.E658G	E4F1_ENST00000565090.1_Missense_Mutation_p.E481G|E4F1_ENST00000564139.1_Missense_Mutation_p.R641G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	658					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCACGGAGATCATCGAG	0.701000													7	42					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767214	73767214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767214G>A	ENST00000373115.4	+	3	862	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCACCACGCGCACCGGCTCC	0.667000													6	10					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117892043	117892043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117892043C>A	ENST00000535237.1	-	6	1121	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G298C|GOPC_ENST00000052569.6_Missense_Mutation_p.G290C					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ATGCCAAGGCCTTCATGATCT	0.378000			O	ROS1	glioblastoma								4	50					1	1	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94057826	94057826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94057826C>T	ENST00000370244.1	-	6	770	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	BCAR3_ENST00000370247.3_Missense_Mutation_p.R70Q|RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R161Q|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.R161Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	161	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTACCTGTCGGGGGATGCG	0.627000													16	30					0	0	1	0	0
ANKRD20A11P	0	broad.mit.edu	37	21	15326399	15326399	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15326399C>T	ENST00000344693.5	-	0	808					NR_027270.1																						TCTCCTTTTCCATTGACTATT	0.448000													30	50					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39522799G>A	ENST00000251646.3	-	3	560	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602000													22	36					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896162	52896162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52896162G>T	ENST00000354452.3	-	18	2406	c.1795C>A	c.(1795-1797)Ctc>Atc	p.L599I	TCF4_ENST00000540999.1_Missense_Mutation_p.L571I|TCF4_ENST00000356073.4_Missense_Mutation_p.L595I|TCF4_ENST00000561992.1_Missense_Mutation_p.L465I|TCF4_ENST00000543082.1_Missense_Mutation_p.L553I|TCF4_ENST00000570287.2_Missense_Mutation_p.L435I|TCF4_ENST00000564999.1_Missense_Mutation_p.L595I|TCF4_ENST00000570177.2_Missense_Mutation_p.L465I|TCF4_ENST00000568673.1_Missense_Mutation_p.L575I|TCF4_ENST00000568740.1_Missense_Mutation_p.L570I|TCF4_ENST00000564403.2_Missense_Mutation_p.L605I|TCF4_ENST00000565018.2_Missense_Mutation_p.L599I|TCF4_ENST00000564228.1_Missense_Mutation_p.L524I|TCF4_ENST00000561831.3_Missense_Mutation_p.L435I|TCF4_ENST00000566279.1_Missense_Mutation_p.L539I|TCF4_ENST00000537856.3_Missense_Mutation_p.L465I|TCF4_ENST00000537578.1_Missense_Mutation_p.L575I|TCF4_ENST00000457482.3_Missense_Mutation_p.L439I|TCF4_ENST00000567880.1_Missense_Mutation_p.L535I|TCF4_ENST00000398339.1_Missense_Mutation_p.L701I|TCF4_ENST00000566286.1_Missense_Mutation_p.L592I|TCF4_ENST00000544241.2_Missense_Mutation_p.L528I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	595	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCACTCTTGAGGTGGAGCTGC	0.617000													5	67					0.217242	0.218821	1	1	0
MCM8	84515	broad.mit.edu	37	20	5974203	5974203	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5974203C>A	ENST00000378896.3	+	18	2669	c.2292C>A	c.(2290-2292)tcC>tcA	p.S764S	MCM8_ENST00000265187.4_Silent_p.S748S|MCM8_ENST00000378886.2_Silent_p.S804S|MCM8_ENST00000378883.1_Silent_p.S717S	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	764					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTGAGCGATCCCAGCATGGTT	0.363000													8	72					0.000442599	0.00048047	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134165236	134165236	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134165236C>A	ENST00000392638.2	+	8	1342	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	LRRC27_ENST00000368610.3_Missense_Mutation_p.A289D|LRRC27_ENST00000368613.4_Missense_Mutation_p.A351D|LRRC27_ENST00000344079.5_Missense_Mutation_p.L383I|LRRC27_ENST00000368615.3_Missense_Mutation_p.A351D|LRRC27_ENST00000432555.2_Missense_Mutation_p.A224D|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.A289D|LRRC27_ENST00000368614.3_Missense_Mutation_p.A351D			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGAAGCAGGCTCTGATGGAG	0.612000													5	56					0.000602214	0.000649039	1	1	0
SEC14L1	6397	broad.mit.edu	37	17	75196713	75196713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75196713C>A	ENST00000413679.2	+	9	1270	c.967C>A	c.(967-969)Ctt>Att	p.L323I	SEC14L1_ENST00000430767.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L323I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L289I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L323I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L289I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	323	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCTCAGGTCCTTCAGGATTA	0.468000													7	103					0.00448238	0.00472561	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201183408	201183408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201183408C>A	ENST00000335211.4	+	13	8962	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	IGFN1_ENST00000451870.2_Silent_p.T487T|IGFN1_ENST00000295591.8_Silent_p.T104T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCTGGCACCTGGTTTAAGG	0.612000													5	48					0.00198382	0.00210581	1	1	0
ZC3H8	84524	broad.mit.edu	37	2	112995893	112995893	+	Splice_Site	SNP	C	C	A	rs112280995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112995893C>A	ENST00000409573.1	-	3	498	c.370_splice	c.e3+1	p.Q123_splice	ZC3H8_ENST00000272570.5_Splice_Site_p.Q123_splice			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	123					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GACTCTTACCCTGTGGGGTAT	0.373000													8	101					0.000274275	0.000298791	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48848500	48848500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48848500G>A	ENST00000293261.3	-	4	797	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TMEM143_ENST00000435956.3_Silent_p.L126L|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.L51L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	161						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCTGGGCCAGCAGGGGCTCC	0.632000													46	65					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690147	38690147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38690147G>A	ENST00000396832.1	-	9	1446	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R396W|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R396W|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R396W	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	396					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCTCTTGCCGCCCAGTGAGG	0.652000													6	10					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60678165	60678165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60678165C>A	ENST00000582809.1	+	19	1960	c.1257C>A	c.(1255-1257)caC>caA	p.H419Q	TLK2_ENST00000343388.7_Missense_Mutation_p.H536Q|TLK2_ENST00000542523.1_Missense_Mutation_p.H536Q|TLK2_ENST00000346027.5_Missense_Mutation_p.H568Q|TLK2_ENST00000326270.9_Missense_Mutation_p.H590Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	590					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCATCATACACTATGACCTCA	0.343000													6	60					3.59834e-05	4.01776e-05	1	1	0
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12904193G>A	ENST00000380659.3	+	3	705	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383000													7	58					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80393711	80393711	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80393711C>T	ENST00000337014.6	+	6	1068	c.594C>T	c.(592-594)gaC>gaT	p.D198D	HEXDC_ENST00000577944.1_Silent_p.D198D|HEXDC_ENST00000327949.9_Silent_p.D198D	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	198					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGTGTGGGACGACATGCTCC	0.672000													4	69					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105431891	105431891	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105431891G>T	ENST00000258494.9	-	18	2275	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	712	Aldehyde dehydrogenase.			A -> T (in Ref. 1; AAI03935).	10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATTCGCACAGCCTTGTCAAG	0.463000													11	30					2.61681e-11	3.25769e-11	1	1	0
RIMKLB	57494	broad.mit.edu	37	12	8866595	8866595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8866595G>A	ENST00000357529.3	+	3	1395	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RIMKLB_ENST00000535829.1_Missense_Mutation_p.V45M|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.V45M	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	45					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGGGCTGTGGTGATGGATGA	0.428000													18	17					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103041675	103041675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103041675G>A	ENST00000375735.2	+	34	5356	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1738S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1738	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGCCTGGGGTTGTTTTGA	0.353000													16	16					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20576405	20576405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20576405G>A	ENST00000399722.2	+	13	2359	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	RBBP8_ENST00000360790.5_Missense_Mutation_p.V670I|RBBP8_ENST00000399725.2_Missense_Mutation_p.V670I|RBBP8_ENST00000327155.5_Missense_Mutation_p.V670I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	670					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAAAATGGATGTTACTGTAAT	0.353000								Homologous recombination					5	45					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017820	36017820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36017820G>A	ENST00000452271.2	-	1	1392	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	112						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAACTGCCCTGCCTCCTTCCC	0.607000													3	8					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943138	52943138	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52943138C>A	ENST00000267119.5	-	3	726		c.e3-1			NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71								structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTCATACCTGTGGGAATG	0.552000													16	110					1.99824e-07	2.35189e-07	1	1	0
SGMS2	166929	broad.mit.edu	37	4	108831512	108831512	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108831512A>C	ENST00000394684.4	+	7	1458	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K301Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.K301Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	301					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ACAGAACTTGAAGGTCTCTTC	0.338000													22	38					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80739561	80739561	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80739561G>T	ENST00000355528.4	+	7	865	c.735G>T	c.(733-735)caG>caT	p.Q245H	TBCD_ENST00000539345.2_Missense_Mutation_p.Q245H|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	245					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACCATGCAGGGGGTCATCA	0.592000											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	59					0.0293803	0.0301098	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25224467C>T	ENST00000276440.7	+	31	3249	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383000													10	24					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62038714	62038714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62038714C>T	ENST00000435607.1	-	11	1760	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A562T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	562					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCCACGGGGCGCAGCAGTTC	0.562000													73	107					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097205	122097205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122097205G>A	ENST00000355329.3	-	2	365	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	65										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAACTTCCAGTCCCCCTCAT	0.572000													8	52					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751589	27751589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27751589C>T	ENST00000261588.4	+	15	1990	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	657										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTTGGTCTCGGTTGCTCAC	0.502000													6	44					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908579	24908579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24908579G>T	ENST00000396432.2	-	9	2731	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q536K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	748					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTAAAGGCTGCGGTGTCTGG	0.473000													11	84					2.80697e-09	3.39963e-09	1	1	0
USP25	29761	broad.mit.edu	37	21	17246839	17246839	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246839T>C	ENST00000285681.2	+	23	3258	c.2889T>C	c.(2887-2889)tgT>tgC	p.C963C	USP25_ENST00000285679.6_Silent_p.C931C|USP25_ENST00000400183.2_Silent_p.C1001C|USP25_ENST00000351097.5_Silent_p.C326C			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	931					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGAATGTTTGCTAGTAA	0.333000													10	111					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50524405	50524405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50524405G>A	ENST00000317551.6	-	10	1226	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CERS5_ENST00000422340.2_Missense_Mutation_p.P310S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	368					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGTCACAGGGACTTTTTGTG	0.517000													50	56					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194883	29194883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29194883G>A	ENST00000240100.2	-	4	1234	c.845C>T	c.(844-846)gCg>gTg	p.A282V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A191V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	282	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGAGATGCCCGCCTGGCAGTG	0.637000													5	46					0	0	1	0	0
GNPNAT1	0	broad.mit.edu	37	14	53251269	53251269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53251269G>A	ENST00000216410.3	-	2	287	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	34					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTCCAGGATGTGTTGGGGAA	0.403000													17	35					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740589	62740589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62740589G>A	ENST00000371153.4	-	3	565	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AATTTGGCCTGCTTGGCCCTT	0.542000													14	145					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45956831	45956831	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45956831T>C	ENST00000453424.2	-	6	1378	c.1117A>G	c.(1117-1119)Agc>Ggc	p.S373G	MARCH8_ENST00000395769.2_Missense_Mutation_p.S91G|MARCH8_ENST00000319836.3_Missense_Mutation_p.S91G|MARCH8_ENST00000395771.3_Missense_Mutation_p.S91G|MARCH8_ENST00000476962.1_5'UTR			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	91						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATCAGGGGGCTCTCATCATCT	0.582000													7	51					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708301	126708301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126708301G>A	ENST00000251772.4	+	1	865	c.796G>A	c.(796-798)Gac>Aac	p.D266N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.D289N			Q9UIW2	PLXA1_HUMAN	plexin A1	289	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGTGGACGACCCCAAATT	0.622000													62	108					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922131	31922131	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31922131A>G	ENST00000375429.3	-	8	1057	c.831T>C	c.(829-831)cgT>cgC	p.R277R	NELFE_ENST00000375425.5_Silent_p.R284R|NELFE_ENST00000444811.2_Silent_p.R247R	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		AGAAGGCCCCACGGAGAAGGG	0.517000													22	41					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170492668	170492668	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170492668T>C	ENST00000260970.3	+	13	1304	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.W347R|PPIG_ENST00000448752.2_Missense_Mutation_p.W362R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	362					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCCTCCACATTGGAGGCAAGA	0.378000													7	71					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37537168	37537168	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37537168A>C	ENST00000399151.3	+	2	222	c.138_splice	c.e2+1	p.K46_splice	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	46					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAACTCAACAAGGTATGTAGG	0.348000													4	104					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245467	202245467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202245467G>A	ENST00000367278.3	+	5	551	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.P102P|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	154						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617000													29	54					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044046	86044046	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86044046C>A	ENST00000414626.2	+	11	2647	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	LRRCC1_ENST00000360375.3_Silent_p.A606A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCCAGGATGCCTTAGCTAAAG	0.358000													15	36					2.35188e-11	2.93101e-11	1	1	0
NEUROG2	63973	broad.mit.edu	37	4	113435853	113435853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113435853C>T	ENST00000313341.3	-	2	1105	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	260					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGTGCATAGCGGTGCTTGTC	0.607000													5	15					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68157500	68157500	+	Missense_Mutation	SNP	G	G	A	rs80358309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68157500G>A	ENST00000294304.7	+	7	1670	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	522	Beta-propeller 2.		A -> T (in EVR4).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGAGACGCCAAGACAGA	0.642000													14	20					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133253151	133253151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133253151G>T	ENST00000320574.5	-	9	933	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	POLE_ENST00000535270.1_Missense_Mutation_p.S270Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GATCATGTAGGAAATCATCAT	0.527000								DNA polymerases (catalytic subunits)					6	20					0.27861	0.279982	1	1	0
ICOSLG	23308	broad.mit.edu	37	21	45656874	45656874	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45656874G>A	ENST00000407780.3	-	3	409	c.282C>T	c.(280-282)ggC>ggT	p.G94G	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.G94G|ICOSLG_ENST00000344330.4_Silent_p.G94G			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	94	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGAGAAGTCGCCCCGCAGCA	0.607000													16	44					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299983	107299983	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107299983T>C	ENST00000282251.5	-	8	1002	c.975A>G	c.(973-975)aaA>aaG	p.K325K	CWF19L2_ENST00000433523.1_Silent_p.K325K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	325							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TATTGCTATTTTTTGCAGTAT	0.323000													6	60					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45203856	45203856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45203856G>A	ENST00000263765.4	+	4	530	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PRDM11_ENST00000530656.1_Missense_Mutation_p.R94H|PRDM11_ENST00000424263.2_Missense_Mutation_p.R60H			Q9NQV5	PRD11_HUMAN	PR domain containing 11	94										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGGAAGCGCGACCTCATC	0.587000													15	27					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2656628	2656628	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2656628C>T	ENST00000335762.5	+	10	1668	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	463					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCACTCCGGCGGGCATGCTT	0.493000													12	16					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625555	10625555	+	Missense_Mutation	SNP	G	G	A	rs140330283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625555G>A	ENST00000254958.5	-	18	2815	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	JAG1_ENST00000423891.2_Missense_Mutation_p.T608M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	767	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGACGCACGTAAAGGACTC	0.592000									Alagille Syndrome				73	117					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	743026	743026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:743026G>T	ENST00000584307.1	-	8	1122	c.952C>A	c.(952-954)Ctt>Att	p.L318I	YES1_ENST00000577961.1_Missense_Mutation_p.L323I|YES1_ENST00000314574.4_Missense_Mutation_p.L318I			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	318	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTTCTTGAAGGAAAGCTTCT	0.323000													10	72					0.000442599	0.00048047	1	1	0
CERS4	79603	broad.mit.edu	37	19	8326599	8326599	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8326599C>T	ENST00000558331.1	+	11	1182	c.723C>T	c.(721-723)tcC>tcT	p.S241S	CERS4_ENST00000559450.1_Silent_p.S292S|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000251363.5_Silent_p.S292S			Q9HA82	CERS4_HUMAN	ceramide synthase 4	292	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACTACGAGTCCATCAGCAACA	0.557000													21	58					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28192905	28192905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28192905G>A	ENST00000302326.4	-	1	4581	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1209							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTCATGGCGCTCTTGACCG	0.667000			T	ETV6	"""AML, meningioma"""								17	21					0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268735	156268735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156268735C>T	ENST00000339922.3	-	1	693	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	82	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CGGGCAGCAGCGTCAGGTAGG	0.557000													38	28					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870463	135870463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135870463G>T	ENST00000309993.2	-	2	1992	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	MSL2_ENST00000434835.2_Missense_Mutation_p.H346Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	420	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTTTTAGAGTGAGATTTCT	0.373000													9	129					7.48243e-07	8.70085e-07	1	1	0
RNF150	57484	broad.mit.edu	37	4	141832381	141832381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832381G>T	ENST00000306799.3	-	6	1642	c.989C>A	c.(988-990)gCt>gAt	p.A330D	RNF150_ENST00000379512.2_Missense_Mutation_p.A231D|RNF150_ENST00000507500.1_Missense_Mutation_p.A372D|RNF150_ENST00000420921.2_Missense_Mutation_p.A231D|RNF150_ENST00000515673.1_Missense_Mutation_p.A372D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	372						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTCCGGACAGCAGGGTCCAA	0.557000													28	37					2.65835e-16	3.4289e-16	1	1	0
SMARCD1	6602	broad.mit.edu	37	12	50480112	50480112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50480112G>A	ENST00000394963.4	+	2	744	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SMARCD1_ENST00000381513.4_Missense_Mutation_p.V116I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	116	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCAGCAGGCGGTCCAAAATCG	0.612000													12	19					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567000													13	22					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146475083	146475083	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146475083T>A	ENST00000515385.1	+	6	1687	c.1145T>A	c.(1144-1146)aTt>aAt	p.I382N	SMAD1_ENST00000394092.2_Missense_Mutation_p.I382N|SMAD1_ENST00000302085.4_Missense_Mutation_p.I382N			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AGTCTGAAAATTTTTAACAAC	0.398000													12	111					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29606579	29606579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29606579G>A	ENST00000373779.3	+	11	1923	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PTPRU_ENST00000428026.2_Silent_p.P598P|PTPRU_ENST00000460170.2_Silent_p.P598P|PTPRU_ENST00000356870.3_Silent_p.P598P|PTPRU_ENST00000323874.8_Silent_p.P598P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.P598P	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	598	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGACATGCCGTCACCCCTGG	0.647000													17	27					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73172191	73172191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73172191G>A	ENST00000272433.2	-	14	1113	c.983C>T	c.(982-984)gCc>gTc	p.A328V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_3'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	328					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTGCTCGTGGCCTGGGCTAT	0.612000													11	10					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139202188	139202188	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139202188T>G	ENST00000423192.1	+	14	1921	c.1760T>G	c.(1759-1761)aTt>aGt	p.I587S	ECT2L_ENST00000541398.1_Missense_Mutation_p.I518S|ECT2L_ENST00000367682.2_Missense_Mutation_p.I587S			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	587	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTGGAAATTGTGAGAGAT	0.428000			"""N, Splice, Mis"""		ETP ALL								5	33					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593703	55593703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55593703G>A	ENST00000288135.5	+	11	1866	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	590	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S590N(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGGCTGAGTTTTGGTCAG	0.413000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				28	40					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253147	100253147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100253147C>A	ENST00000160382.5	-	3	271	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	55	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTTTGTCCCCCTCCAGCTCCA	0.637000													5	68					0.0293803	0.0301098	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67319222	67319222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67319222C>A	ENST00000360461.5	+	13	4760	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A742D|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A742D|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A661D	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	742	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGATGGTGGCCACGGAGCGG	0.622000													4	51					0.00909568	0.00947522	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95730650	95730650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:95730650A>G	ENST00000311106.3	-	13	2039	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	PCSK1_ENST00000508626.1_Missense_Mutation_p.M554T|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	601					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCTGCTTCATATGCTCTGG	0.473000													13	69					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26816658	26816658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26816658C>T	ENST00000381340.3	-	15	2089	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	558					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCAGGACGCGGTAACAGAG	0.478000													9	360					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211533282	211533282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211533282C>T	ENST00000261464.5	+	5	461	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.P136L|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Missense_Mutation_p.P136L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTCAACCTGTGCAGTGT	0.498000													24	55					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294740	222294740	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222294740G>A	ENST00000281821.2	-	15	2669	c.2628C>T	c.(2626-2628)aaC>aaT	p.N876N	EPHA4_ENST00000392071.4_Silent_p.N825N|EPHA4_ENST00000409854.1_Silent_p.N876N|EPHA4_ENST00000409938.1_Silent_p.N876N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	876	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCAACATGTTGACAATCT	0.522000													9	111					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:1559045C>A	ENST00000381605.4	-	2	436	c.372G>T	c.(370-372)cgG>cgT	p.R124R	SIRPB1_ENST00000262929.5_Silent_p.R123R|RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000381603.3_Silent_p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547000													40	77					1.68508e-10	2.07758e-10	1	1	0
EVC	2121	broad.mit.edu	37	4	5721083	5721083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5721083G>A	ENST00000382674.2	+	2	467	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EVC_ENST00000509451.1_Missense_Mutation_p.D95N|EVC_ENST00000264956.6_Missense_Mutation_p.D95N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	95					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GATGTCGAAGGACAAGGAAGC	0.512000													21	57					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152187633G>A	ENST00000368801.2	-	3	6547	c.6472C>T	c.(6472-6474)Cgc>Tgc	p.R2158C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617000													55	1794					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337721	33337721	+	Silent	SNP	C	C	T	rs149855221	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33337721C>T	ENST00000374796.2	-	10	4847	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	NCOA6_ENST00000359003.2_Silent_p.T759T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATCTGTCCCGTAAACTGCA	0.542000													23	28					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55508792	55508792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55508792C>A	ENST00000543010.1	+	12	3130	c.2987C>A	c.(2986-2988)tCt>tAt	p.S996Y	NLRP2_ENST00000391721.4_Missense_Mutation_p.S972Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.S973Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.S972Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.S993Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.S974Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.S996Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.S974Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	996					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTTGGGGTCTAGTGGAGTG	0.537000													51	68					3.50607e-19	4.58539e-19	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77457137	77457137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77457137G>A	ENST00000451710.3	-	4	512	c.275C>T	c.(274-276)aCa>aTa	p.T92I	TRPM6_ENST00000359047.2_Missense_Mutation_p.T92I|TRPM6_ENST00000376871.3_Missense_Mutation_p.T92I|TRPM6_ENST00000376872.3_Missense_Mutation_p.T92I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T87I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T92I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T87I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T92I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	92					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAAGTATCTGTTGGGCTTTT	0.418000													10	101					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63922785	63922785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63922785C>T	ENST00000443617.2	-	69	12933	c.12846G>A	c.(12844-12846)ccG>ccA	p.P4282P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4282					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.P4282P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGATTTGTTGCGGTCGATTGT	0.473000													45	55					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617274	111617274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617274G>A	ENST00000374667.3	-	1	1965	c.937C>T	c.(937-939)Ccg>Tcg	p.P313S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	313						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGGAGGCCCGGCTGGGTGCTG	0.662000													5	58					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122536867	122536867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122536867G>A	ENST00000264357.5	+	8	1395	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G368E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G352E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G368E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	368					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGAATGACTGGAAATATTCAA	0.373000													85	178					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887095	60887095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887095G>T	ENST00000252999.3	-	70	9582	c.9516C>A	c.(9514-9516)tgC>tgA	p.C3172*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3172	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACCTGGCATAGCCCAT	0.662000													4	45					0.014758	0.0152625	1	1	0
CCDC24	149473	broad.mit.edu	37	1	44458013	44458013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44458013C>T	ENST00000372318.3	+	3	427	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	86										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAGGAGCTCCGGCAGTTGCT	0.647000													36	60					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468499	35468499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468499G>T	ENST00000381151.3	+	2	1514	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	334						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCAACCCAGAGCACTGCATGC	0.483000													61	58					7.50695e-29	1.00363e-28	1	1	0
DHX30	22907	broad.mit.edu	37	3	47888408	47888408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888408T>C	ENST00000446256.2	+	12	2301	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	DHX30_ENST00000445061.1_Missense_Mutation_p.Y616H|DHX30_ENST00000348968.4_Missense_Mutation_p.Y588H|DHX30_ENST00000457607.1_Missense_Mutation_p.Y644H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	616	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTTCATGTACCCAGTCAA	0.617000													12	13					0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55055240	55055240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55055240G>A	ENST00000260102.4	+	4	521	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	149					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACACCTTTACGGCAAAAGTTA	0.368000													23	30					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10714227	10714227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10714227C>A	ENST00000377022.3	-	11	2204	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N	CASZ1_ENST00000344008.5_Missense_Mutation_p.K629N|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCTTGTGCTTCTCGATGT	0.557000													5	57					3.59834e-05	4.01776e-05	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38173513	38173513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38173513G>A	ENST00000317025.8	-	10	2420	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635C|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTGAGGCGCGACTCCTTTTC	0.403000			T	NUP98	AML								26	47					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784642	83784642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83784642G>A	ENST00000322019.9	+	3	516	c.242G>A	c.(241-243)gGa>gAa	p.G81E	TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81E|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81E|TM6SF1_ENST00000564988.1_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCATCATAGGACTGGAGCAA	0.423000													12	20					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123252487	123252487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123252487G>A	ENST00000264501.4	+	67	11629	c.11256G>A	c.(11254-11256)acG>acA	p.T3752T	KIAA1109_ENST00000388738.3_Silent_p.T3752T			Q2LD37	K1109_HUMAN	KIAA1109	3752					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGACATACGTCTCGTAAAA	0.378000													8	17					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892634	11892634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11892634C>T	ENST00000357901.4	+	4	2097	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	ZNF441_ENST00000454339.2_Silent_p.H598H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGACCCACAGTATGGAGA	0.393000													9	27					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905958	38905958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905958G>A	ENST00000359357.3	+	76	11375	c.11121G>A	c.(11119-11121)acG>acA	p.T3707T	DNAH8_ENST00000441566.1_Silent_p.T3671T|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.T3924T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATCAGACGTCATTGGCCC	0.502000													36	53					0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135215669	135215669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135215669G>A	ENST00000281924.6	-	7	807	c.743C>T	c.(742-744)gCg>gTg	p.A248V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	248						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTACCAGACCGCCGAGTCATG	0.542000													35	49					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186937930	186937930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186937930G>A	ENST00000337774.5	-	16	2418	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	677	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTCCGTAGCGGTCCTTCTTC	0.572000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28368334	28368334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28368334G>A	ENST00000479665.1	-	7	1286	c.755C>T	c.(754-756)gCa>gTa	p.A252V	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	252	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCTTGATTGCAGTTGAGGT	0.398000													35	71					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158330965	158330965	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158330965G>T	ENST00000392185.3	+	9	1028	c.857G>T	c.(856-858)aGg>aTg	p.R286M		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	286	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTAAACCACAGGTATAAGCAC	0.408000													13	124					2.32078e-09	2.82054e-09	1	1	0
MME	4311	broad.mit.edu	37	3	154859820	154859820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154859820C>T	ENST00000460393.1	+	11	1118	c.998C>T	c.(997-999)aCt>aTt	p.T333I	MME_ENST00000492661.1_Missense_Mutation_p.T333I|MME_ENST00000462745.1_Missense_Mutation_p.T333I|MME_ENST00000493237.1_Missense_Mutation_p.T333I|MME_ENST00000360490.2_Missense_Mutation_p.T333I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	333					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCATGTCAACTGTGAATATT	0.363000													40	69					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20733666	20733666	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20733666A>G	ENST00000382148.3	-	7	929	c.593T>C	c.(592-594)gTt>gCt	p.V198A	PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V202A|KCNIP4_ENST00000447367.2_Missense_Mutation_p.V189A|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.V223A|KCNIP4_ENST00000359001.5_Missense_Mutation_p.V161A|KCNIP4_ENST00000509207.1_Missense_Mutation_p.V161A	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	223						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TATGGTAACAACCCCATCTTT	0.338000													5	49					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60104028	60104028	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60104028A>C	ENST00000371218.4	+	11	1386	c.1202A>C	c.(1201-1203)gAt>gCt	p.D401A	FGGY_ENST00000371212.1_Missense_Mutation_p.D313A|FGGY_ENST00000371210.1_Missense_Mutation_p.D102A|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.D401A	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	401					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCCTTAGCAGATCTGACACTA	0.468000													3	80					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101068592	101068592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101068592G>A	ENST00000259455.2	-	15	2499	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	680					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATGCTGACGTTGCGGGTCT	0.547000													11	16					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424357	117424357	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117424357G>T	ENST00000160373.3	-	5	2311	c.2220C>A	c.(2218-2220)tcC>tcA	p.S740S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	740										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCTTCACAGGAGTAATTAA	0.448000													59	165					7.59065e-32	1.01804e-31	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94915620	94915620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915620G>T	ENST00000289495.5	+	16	3694	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.A954S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1238S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A954S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	954						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGTCCTTAGCACTGTCATC	0.458000										HNSCC(28;0.073)			13	32					6.81908e-15	8.72718e-15	1	1	0
UBD	10537	broad.mit.edu	37	6	29523970	29523970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29523970C>T	ENST00000377050.4	-	2	408	c.185G>A	c.(184-186)aGc>aAc	p.S62N	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	62	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGAGAGGCTTCTCCGTGG	0.483000													18	23					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123673693	123673693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123673693C>T	ENST00000334268.4	-	21	1677	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	TRDN_ENST00000398178.3_Missense_Mutation_p.V454M			Q13061	TRDN_HUMAN	triadin	454					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTGCTCCACTGTCTTGGTT	0.398000													4	36					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154649450G>A	ENST00000347063.4	-	4	682	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	104						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448000													37	51					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21800061	21800061	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21800061C>T	ENST00000318220.6	+	10	1803	c.755C>T	c.(754-756)gCt>gTt	p.A252V	NBPF3_ENST00000342104.5_Missense_Mutation_p.A308V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A238V|NBPF3_ENST00000318249.5_Missense_Mutation_p.A308V			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	308	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTTGGATGCTGTATGCATT	0.443000													65	98					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673911	113673911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673911A>G	ENST00000003302.4	-	23	2899	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	USP28_ENST00000260188.5_Missense_Mutation_p.V912A|USP28_ENST00000545540.1_Missense_Mutation_p.V787A|USP28_ENST00000544967.1_Missense_Mutation_p.V620A	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	944					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAAGCAATCACGGATTCTTT	0.463000													8	98					0	0	1	0	0
LPO	0	broad.mit.edu	37	17	56342180	56342180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56342180G>T	ENST00000262290.4	+	10	1680	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	LPO_ENST00000543544.1_Missense_Mutation_p.R396I|LPO_ENST00000421678.2_Missense_Mutation_p.R372I|LPO_ENST00000582328.1_Missense_Mutation_p.R372I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	455					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R455fs*66(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTGGATCCCAGAATTTCCAAT	0.498000													5	41					0.000602214	0.000649039	1	1	0
LRFN1	57622	broad.mit.edu	37	19	39805018	39805018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805018C>T	ENST00000248668.4	-	1	958	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	320	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTCGGCAGCGCAGGCTCAC	0.741000													3	2					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739757	46739757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739757C>T	ENST00000306448.4	-	2	1207	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A32T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	32					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCCTTGGCATCGATTTCC	0.448000													39	51					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35835805	35835805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35835805C>A	ENST00000085219.5	+	10	2175	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	CD22_ENST00000544992.2_Silent_p.I703I|CD22_ENST00000419549.2_Silent_p.I531I|CD22_ENST00000270311.6_Silent_p.I583I|CD22_ENST00000341773.6_Silent_p.I526I|CD22_ENST00000536635.2_Silent_p.I615I|CD22_ENST00000594250.1_Silent_p.I526I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	703					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCTGGCAATCTGTGGGCTCA	0.617000													70	68					5.00936e-31	6.71602e-31	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99827614	99827614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:99827614G>T	ENST00000524871.1	+	8	1040	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CNTN5_ENST00000527185.1_Missense_Mutation_p.E250D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E250D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E176D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E250D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	250	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCCAGGAGACAGGCAACC	0.428000													24	48					6.32553e-13	7.99037e-13	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94048337	94048337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048337G>T	ENST00000370244.1	-	9	1495	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	BCAR3_ENST00000370247.3_Missense_Mutation_p.P312T|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.P403T|BCAR3_ENST00000370243.1_Missense_Mutation_p.P403T|BCAR3_ENST00000539242.1_Missense_Mutation_p.P79T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	403					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTAGGCGGGGGCTTAGGGCAC	0.627000													18	54					6.33239e-15	8.10486e-15	1	1	0
MYO6	4646	broad.mit.edu	37	6	76618317	76618317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76618317C>T	ENST00000369981.3	+	33	3694	c.3415C>T	c.(3415-3417)Cgt>Tgt	p.R1139C	MYO6_ENST00000369975.1_Missense_Mutation_p.R1106C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1106C|MYO6_ENST00000369977.3_Missense_Mutation_p.R1129C			Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AACAGAGCAACGTGCTCCAAA	0.343000													36	63					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122851	17122851	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17122851T>G	ENST00000265970.7	-	24	3981	c.3982A>C	c.(3982-3984)Aac>Cac	p.N1328H	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N948H|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1328	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGAAAAAGGTTTGTCTGCTTT	0.338000													5	99					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189855	95189855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95189855C>T	ENST00000027335.3	-	4	369	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CDH17_ENST00000441892.2_Missense_Mutation_p.R82K|CDH17_ENST00000450165.2_Missense_Mutation_p.R82K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	82	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCCAAGGCTCTGTTGTAATA	0.463000													41	52					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785242	24785242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24785242C>T	ENST00000396789.4	+	2	2110	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	LTB4R_ENST00000396782.2_Missense_Mutation_p.R129C|LTB4R_ENST00000345363.3_Missense_Mutation_p.R129C	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	129					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCAGAAGCTACGCACCAAGGC	0.637000													5	34					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144844245	144844245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144844245G>T	ENST00000367545.3	+	40	5827	c.5827G>T	c.(5827-5829)Gcc>Tcc	p.A1943S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1943					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGACCTGAAGCCATTCAGAT	0.383000													15	31					1.3612e-06	1.57881e-06	1	1	0
FANCM	57697	broad.mit.edu	37	14	45605531	45605531	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605531C>T	ENST00000267430.5	+	1	382	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FANCM_ENST00000556036.1_Silent_p.S99S|FANCM_ENST00000542564.2_Silent_p.S99S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	99	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCACATTTCCCGGGCTGCTC	0.567000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	69					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210259	10210259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10210259C>T	ENST00000418404.3	-	35	5455	c.5292G>A	c.(5290-5292)acG>acA	p.T1764T	MYH13_ENST00000570743.1_Silent_p.T1764T|MYH13_ENST00000252172.4_Silent_p.T1764T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCACATCCGTGATGGCCT	0.517000													27	37					0	0	1	0	0
AC096579.7	0	broad.mit.edu	37	2	89161303	89161303	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89161303G>T	ENST00000430694.1	-	0	721																											AAGGATATCAGAGGCTGATTG	0.393000													3	24					0.00909568	0.00947522	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6732108	6732108	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732108A>G	ENST00000405858.1	-	5	1006	c.465T>C	c.(463-465)agT>agC	p.S155S	ZNF12_ENST00000342651.5_Silent_p.S117S|ZNF12_ENST00000404360.1_Silent_p.S81S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCCATCACTACTAATATATT	0.373000													7	121					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48320493	48320493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48320493C>T	ENST00000297423.4	+	7	1231	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.Q223*|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Q213*	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GTGGAGACATCAATGTATTTC	0.318000													6	56					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038068	156038068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156038068C>T	ENST00000361084.5	+	3	488	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	83					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CAGGTACTATCGTGGTGCAGT	0.562000													51	100					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4498835	4498835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4498835G>T	ENST00000262375.6	+	9	1304	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	DNAJA3_ENST00000431375.2_Missense_Mutation_p.K256N|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K409N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	409					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TCCACATCAAGATACGAGTTC	0.592000													3	12					6.4e-05	7.11719e-05	1	1	0
AC005609.1	0	broad.mit.edu	37	5	140242835	140242835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242835C>T	ENST00000502505.1	-	1	389	c.141G>A	c.(139-141)tcG>tcA	p.S47S	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron																							TGGCGGGCGTCGAGGTCCGGG	0.647000													8	14					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204255867	204255867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204255867G>A	ENST00000295851.4	+	5	874		c.e5+1		ABI2_ENST00000261018.7_Splice_Site|ABI2_ENST00000422511.2_Splice_Site|ABI2_ENST00000430574.1_Splice_Site|ABI2_ENST00000261017.5_Splice_Site|ABI2_ENST00000261016.6_Splice_Site|ABI2_ENST00000430418.1_Splice_Site|ABI2_ENST00000424558.1_Splice_Site			Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGACACTTGGGTGAGTATATA	0.398000													7	14					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99131923	99131923	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99131923T>C	ENST00000370992.4	-	20	2361	c.2249_splice	c.e20-1	p.R750_splice	RRP12_ENST00000414986.1_Splice_Site_p.R689_splice|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Splice_Site_p.R650_splice|RRP12_ENST00000536831.1_Splice_Site_p.R468_splice	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	750						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGACAGACAATCTGCTCGGGG	0.592000													10	10					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185267195	185267195	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185267195C>A	ENST00000367498.3	-	15	2523	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.S416I	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	634					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTATAGGGGCTCCATTCATT	0.378000													35	156					3.11337e-16	4.01248e-16	1	1	0
NOS1	4842	broad.mit.edu	37	12	117669819	117669819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117669819G>A	ENST00000317775.6	-	22	4038	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1152V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1118	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTAGGGAGGCAAACTGCTG	0.617000													9	15					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72958369	72958369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72958369C>T	ENST00000425042.2	-	5	648	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_030630.2	NP_085133.1			HID1 domain containing																		GGGGAGTGAGCGAAGCCCACA	0.657000													16	16					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129324846	129324846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129324846A>G	ENST00000393239.1	-	1	815	c.637T>C	c.(637-639)Tac>Cac	p.Y213H	PLXND1_ENST00000324093.4_Missense_Mutation_p.Y213H			Q9Y4D7	PLXD1_HUMAN	plexin D1	213	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAACCGGTGTACGTGGCGCCC	0.716000													2	5					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	C	T	rs149394218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21771103C>T	ENST00000276420.4	-	1	268	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587000													23	35					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514793	118514793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118514793G>A	ENST00000361417.2	+	16	3433	c.3022G>A	c.(3022-3024)Gct>Act	p.A1008T	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.A961T|PHLDB1_ENST00000524713.1_Missense_Mutation_p.A151T|PHLDB1_ENST00000527898.1_Missense_Mutation_p.A44T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1008										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCAGAGCGCTCTACTCAC	0.612000													12	15					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748151	19748151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748151C>T	ENST00000400113.3	-	5	1309	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	402					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACAAAGGCCCGCTTGGCATA	0.612000													7	101					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93743997	93743997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93743997C>T	ENST00000265990.6	+	19	2571	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	755					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCGCGTTTACTTGATATCCT	0.338000													21	29					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579057	41579057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41579057G>A	ENST00000402904.2	-	8	981	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SCMH1_ENST00000326197.7_Nonsense_Mutation_p.R205*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.R215*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.R185*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.R158*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.R144*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.R158*|SCMH1_ENST00000456518.2_Intron	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	205					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGCCCCTCGCCACCCATCA	0.567000													45	46					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44971423	44971423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44971423G>A	ENST00000371460.1	-	8	821	c.504C>T	c.(502-504)gaC>gaT	p.D168D	SUPT3H_ENST00000306867.5_Silent_p.D157D|SUPT3H_ENST00000371461.2_Silent_p.D168D|SUPT3H_ENST00000371459.1_Silent_p.D157D	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	239					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCAATTTCGTCATCTTCAA	0.378000													28	49					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67305108	67305108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67305108C>A	ENST00000299798.11	+	16	2751	c.2686C>A	c.(2686-2688)Ctg>Atg	p.L896M		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	896					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGCAGCCGGCTGTAGCTCAA	0.627000													3	8					0.004672	0.0049138	1	1	0
KRT26	353288	broad.mit.edu	37	17	38926514	38926514	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38926514A>G	ENST00000335552.4	-	3	720	c.672T>C	c.(670-672)agT>agC	p.S224S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	224	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCTCCTCATGACTTTTTTTGA	0.458000													3	70					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210598	15210598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15210598C>A	ENST00000217246.4	+	6	826	c.431C>A	c.(430-432)aCt>aAt	p.T144N	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.T144N	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	144	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTCATCCATACTGTAGGGCCA	0.338000													3	48					0.115264	0.117355	1	1	0
A2M	2	broad.mit.edu	37	12	9268435	9268435	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9268435T>G	ENST00000318602.7	-	1	318	c.11A>C	c.(10-12)aAc>aCc	p.N4T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	4					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AAGGAGTTTGTTCTTCCCCAT	0.502000													3	79					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55034670	55034670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55034670C>T	ENST00000251091.5	+	1	341	c.36C>T	c.(34-36)ggC>ggT	p.G12G	SAMD4A_ENST00000554335.1_Silent_p.G12G|SAMD4A_ENST00000392067.3_Silent_p.G12G|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.G11G	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	12					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCTGGCGGGCTGGTTTAAGG	0.697000													6	27					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245847663	245847663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245847663C>T	ENST00000366518.4	+	8	1348	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	KIF26B_ENST00000407071.2_Missense_Mutation_p.S796L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	796					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597000													7	19					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747018	51747018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51747018T>G	ENST00000395052.3	+	3	1214	c.980T>G	c.(979-981)tTt>tGt	p.F327C	GRM2_ENST00000442933.2_Missense_Mutation_p.F327C|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	327					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATCAGTGACTTTGCCTCCTAC	0.617000													8	52					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108366851	108366851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108366851C>T	ENST00000361582.3	+	16	2084	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	DZIP3_ENST00000463306.1_Silent_p.Y618Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	618					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCATGGAGTACAATATAAATG	0.333000													12	103					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703769	3703769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703769G>A	ENST00000378251.1	-	2	748	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	241					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCTCCAGGCGCTTGTCCCTC	0.632000													20	18					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912410	23912410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912410C>A	ENST00000382298.3	-	10	6193	c.5605G>T	c.(5605-5607)Gag>Tag	p.E1869*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E1869*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1119*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1869					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAAACACCTCTCCAATGTGT	0.433000													7	74					0.0293803	0.0301098	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65209908	65209908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65209908C>T	ENST00000247226.7	+	15	3287	c.2979C>T	c.(2977-2979)gaC>gaT	p.D993D	PLEKHG3_ENST00000484731.2_Silent_p.D554D|PLEKHG3_ENST00000471182.2_Silent_p.D582D|PLEKHG3_ENST00000394691.1_Silent_p.D1049D|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1049					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGCCCGACGTCCGTGAGC	0.721000													32	39					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568472G>A	ENST00000262873.7	+	6	652	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	145	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582000													40	58					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963829	54963829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54963829G>A	ENST00000326764.5	+	4	692		c.e4-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCTTCCACAGTACGTGTCCC	0.562000													15	35					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis	extracellular region		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468000													7	44					0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47080742	47080742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47080742G>A	ENST00000271139.8	-	1	63	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	MOB3C_ENST00000477318.1_Intron|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000319928.3_Intron	NM_145279.4	NP_660322.2	Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	0							metal ion binding										AGATTTCTGCGCTTCATTTGC	0.517000													21	38					0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18918708G>A	ENST00000357068.6	-	2	542	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_ENST00000334029.2_5'UTR|PRODH_ENST00000420436.1_Intron	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	93					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547000													12	13					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573443	25573443	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573443G>A	ENST00000417642.2	-	0	223				C1orf63_ENST00000431849.2_Silent_p.Y4Y|C1orf63_ENST00000243189.7_Silent_p.Y4Y			Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCGTTCACGTAGTTGGACA	0.597000													25	31					0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564459	28564459	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28564459G>A	ENST00000335514.5	+	3	342	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	97					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATAAGCAGAAGATCAAAA	0.413000													19	29					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67983747	67983747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67983747G>A	ENST00000422611.2	-	12	1749	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	SLC12A4_ENST00000338335.3_Silent_p.G568G|SLC12A4_ENST00000572037.1_Silent_p.G520G|SLC12A4_ENST00000537830.2_Silent_p.G562G|SLC12A4_ENST00000316341.3_Silent_p.G568G|SLC12A4_ENST00000541864.2_Silent_p.G537G|SLC12A4_ENST00000576616.1_Silent_p.G568G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	568					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGAGGATGCCCAGCTCGG	0.632000													4	20					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140235801	140235801	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140235801G>A	ENST00000307360.5	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A56A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.617000													46	53					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13716359	13716359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13716359C>T	ENST00000354817.3	+	2	191	c.47C>T	c.(46-48)aCa>aTa	p.T16I		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	16					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTCCTCCTCACAGGAGCTACC	0.418000													4	65					0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17398697	17398697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17398697C>T	ENST00000225688.3	-	2	799	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	196					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGCTGGGCAGCTTGGCCATGG	0.642000													3	4					0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20824833	20824833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20824833G>A	ENST00000361443.4	-	3	786	c.549C>T	c.(547-549)caC>caT	p.H183H	SP8_ENST00000418710.2_Silent_p.H201H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ACTCGTACGGGTGCGCCATGC	0.716000													3	10					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332457	22332457	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22332457C>A	ENST00000558896.1	+	0	264																											TCTTCTGGGCCTATCATCTTC	0.363000													7	70					1.06961e-07	1.26574e-07	1	1	0
CST9	128822	broad.mit.edu	37	20	23586319	23586319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23586319C>A	ENST00000376971.3	-	1	194	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	61						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCTCCTTGCTCTGCACGTTGA	0.507000													14	199					1.52009e-12	1.91418e-12	1	1	0
SGK223	0	broad.mit.edu	37	8	8235357	8235357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8235357C>T	ENST00000520004.1	-	3	826	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SGK223_ENST00000330777.4_Missense_Mutation_p.V188M			Q86YV5	SG223_HUMAN		188							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTTGTGCACAGCCTTCTCC	0.602000													7	86					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885172	77885172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885172G>A	ENST00000340067.3	-	2	707	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGGCGTTGAAGACCTCCATGC	0.557000													21	36					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000354956.5_Missense_Mutation_p.K640N|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348000													23	41					1.22574e-08	1.47244e-08	1	1	0
FBXO30	84085	broad.mit.edu	37	6	146127372	146127372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127372C>T	ENST00000237281.4	-	2	336	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	57							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAAGGCACTCGTTCAAATGG	0.423000													15	134					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314193	54314193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54314193G>C	ENST00000324134.6	-	3	888	c.720C>G	c.(718-720)ttC>ttG	p.F240L	NLRP12_ENST00000535162.1_Missense_Mutation_p.F240L|NLRP12_ENST00000354278.3_Missense_Mutation_p.F240L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F240L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F240L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F240L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F240L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	240	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTGCCTTGGAAGAGCTTCC	0.577000													10	27					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51085263	51085263	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51085263C>T	ENST00000395542.2	-	15	4201	c.4017G>A	c.(4015-4017)gtG>gtA	p.V1339V	RP4-724E13.2_ENST00000420449.1_RNA|RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000265136.7_Silent_p.V1257V			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1257										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAGCAAGGGCACCTGCAGGG	0.502000													5	71					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40688680	40688680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40688680C>T	ENST00000298910.7	+	22	2900	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R948*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	948					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTGAAGCGAAAAAGAAA	0.284000													6	19					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21595157	21595157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:21595157G>T	ENST00000244745.1	+	1	1186	c.392G>T	c.(391-393)aGg>aTg	p.R131M	SOX4_ENST00000543472.1_Missense_Mutation_p.R131M	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TACCGGCCCAGGAAGAAGGTG	0.637000													4	11					0.000602214	0.000649039	1	1	0
HDC	3067	broad.mit.edu	37	15	50555543	50555543	+	Silent	SNP	C	C	T	rs139287451	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50555543C>T	ENST00000267845.3	-	2	495	c.93G>A	c.(91-93)acG>acA	p.T31T	HDC_ENST00000543581.1_Silent_p.T31T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	31			T -> M (in dbSNP:rs17740607).		catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCACGTCTGGCGTCACACGTC	0.562000													27	34					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071064	136071064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136071064C>T	ENST00000401392.1	-	8	1173	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZRANB3_ENST00000264159.6_Missense_Mutation_p.A321T|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A321T			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	321						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTACCTTGGCAATAGCAGTT	0.353000													4	78					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42360978	42360978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42360978G>A	ENST00000290472.3	-	20	2486	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	798	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCAGGGCCTGCAGGATGGCA	0.637000													9	12					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216108117	216108117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216108117G>T	ENST00000366943.2	-	38	7527	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	USH2A_ENST00000307340.3_Missense_Mutation_p.L2381M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2381	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGACATTCAGAAGGGTGTAG	0.323000										HNSCC(13;0.011)			12	75					0.00010058	0.000111121	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367143	128367143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128367143G>T	ENST00000389524.4	+	23	2930	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D	MYO7B_ENST00000409816.2_Missense_Mutation_p.E959D|MYO7B_ENST00000428314.1_Missense_Mutation_p.E959D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	959						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGGCGGAGGAGCCTGAGG	0.582000													8	10					0.0381472	0.0390147	1	1	0
NRF1	4899	broad.mit.edu	37	7	129357079	129357079	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129357079G>A	ENST00000393232.1	+	9	1203	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	NRF1_ENST00000539636.1_Silent_p.T201T|NRF1_ENST00000353868.4_Silent_p.T296T|NRF1_ENST00000223190.4_Silent_p.T362T|NRF1_ENST00000393231.3_Silent_p.T362T|NRF1_ENST00000393230.2_Silent_p.T362T|NRF1_ENST00000311967.2_Silent_p.T362T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	362	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGGGCCACGTTACAGGGAG	0.473000													9	46					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118471374	118471374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118471374C>T	ENST00000359415.4	+	11	1769	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.P494L|ARCN1_ENST00000392859.3_Missense_Mutation_p.P406L			P48444	COPD_HUMAN	archain 1	494					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAAACAGCCCCGTCAGGTTT	0.393000													18	260					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57589899	57589899	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57589899C>A	ENST00000243077.3	+	55	9197	c.8731C>A	c.(8731-8733)Ctg>Atg	p.L2911M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2911	LDL-receptor class A 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCACAGTTCCTGTGCAGCAG	0.662000													7	45					0.00307968	0.00325696	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56994235	56994235	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56994235A>C	ENST00000179765.5	-	25	4751	c.4552T>G	c.(4552-4554)Ttg>Gtg	p.L1518V	BAZ2A_ENST00000549884.1_Missense_Mutation_p.L1548V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L1520V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.L1550V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1550					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGCCAAGTCTTCACGG	0.517000													24	36					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389536	20389536	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389536C>A	ENST00000315915.4	+	1	796	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATCTTCATCTATGTGTGGC	0.408000													62	193					1.40621e-15	1.80554e-15	1	1	0
SRRD	402055	broad.mit.edu	37	22	26884027	26884027	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26884027G>A	ENST00000215917.6	+	3	297	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	95					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAAACATCTGGAACAACTGAA	0.478000													16	11					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218762	85218762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85218762C>A	ENST00000357749.2	-	5	639	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CHM_ENST00000537751.1_Nonsense_Mutation_p.E56*|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	204					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGGTATCTTCTGCTATAGGC	0.358000													7	97					0.000157383	0.00017284	1	1	0
CD226	10666	broad.mit.edu	37	18	67563180	67563180	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67563180C>T	ENST00000280200.4	-	4	752	c.484G>A	c.(484-486)Gca>Aca	p.A162T	CD226_ENST00000577287.1_Missense_Mutation_p.A7T|CD226_ENST00000582621.1_Missense_Mutation_p.A162T|CD226_ENST00000581982.1_Missense_Mutation_p.A7T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	162	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CACCTCACTGCCTGCACAGGC	0.488000													20	27					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39883813	39883813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39883813A>G	ENST00000260356.5	+	16	2686	c.2521A>G	c.(2521-2523)Aat>Gat	p.N841D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	841					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTTGGAACACAATCCGGATCA	0.453000													40	61					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493456	56493456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56493456G>A	ENST00000267101.3	+	24	3304	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	ERBB3_ENST00000415288.2_Missense_Mutation_p.R896H|ERBB3_ENST00000450146.2_Missense_Mutation_p.R312H|ERBB3_ENST00000553131.1_Missense_Mutation_p.R196H|ERBB3_ENST00000549832.1_Missense_Mutation_p.R75H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	955	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGAACATTCGCCCAACCTTT	0.493000													15	37					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434638	110434638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110434638C>T	ENST00000375856.3	-	1	4277	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1255					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGTCGATGGCGATGTAGTTG	0.711000													7	8					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124111498	124111498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124111498G>A	ENST00000286713.2	-	5	442	c.425C>T	c.(424-426)gCa>gTa	p.A142V	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.A91V	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	142					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		AAGACGGGTTGCTGAGTCAGC	0.473000													15	26					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65817504	65817504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65817504G>T	ENST00000304842.5	+	4	1482	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	353					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATAAGGGAGAATTCCAACT	0.453000													43	150					4.18559e-23	5.53765e-23	1	1	0
C12orf50	160419	broad.mit.edu	37	12	88379745	88379745	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379745G>A	ENST00000298699.2	-	11	1188	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	C12orf50_ENST00000550553.1_Silent_p.H297H	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	336										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCTTTGAACGTGGATATAGG	0.473000													9	128					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669634	99669634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669634A>G	ENST00000303915.6	-	5	1440	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ZNF3_ENST00000424697.1_Missense_Mutation_p.V158A|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.V158A			P17036	ZNF3_HUMAN	zinc finger protein 3	158					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCAACTGTCACTTGACCAAA	0.453000													19	252					0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12594616	12594616	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12594616C>T	ENST00000398246.3	-	5	1216	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	LONRF1_ENST00000533751.1_Missense_Mutation_p.V26I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	383					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTCCTTTGACAGGCTCTGAA	0.388000													6	92					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509809	117509809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509809G>A	ENST00000393203.2	+	6	2063	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	639	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GATGAGTTCCGCTATCGAATG	0.542000													37	43					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735848	126735848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126735848C>T	ENST00000251772.4	+	16	3244	c.3175C>T	c.(3175-3177)Cgg>Tgg	p.R1059W	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1082W			Q9UIW2	PLXA1_HUMAN	plexin A1	1082	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637000													15	29					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911310	38911310	+	Missense_Mutation	SNP	G	G	A	rs141965826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38911310G>A	ENST00000312150.4	-	1	274	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	72	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGGAGCCCCCGCTCATTCACA	0.572000													36	61					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97964316	97964316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964316G>A	ENST00000224337.5	-	12	1015	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q269*|BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q292*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	292					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACTGGTGACTGCACAGCTTCT	0.423000													33	49					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36090059	36090059	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36090059C>A	ENST00000378660.1	+	3	349	c.161C>A	c.(160-162)gCt>gAt	p.A54D	CHDC2_ENST00000313548.4_Missense_Mutation_p.A54D					calponin homology domain containing 2																		TTCAATGATGCTGAACCTGCA	0.363000													16	38					1.15919e-05	1.31461e-05	1	1	0
ATP9B	374868	broad.mit.edu	37	18	77105535	77105535	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77105535G>A	ENST00000426216.2	+	22	2597	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ATP9B_ENST00000543761.1_Silent_p.L181L|ATP9B_ENST00000307671.7_Silent_p.L860L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	860					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTGTGACACTGCTGCAGCAGC	0.607000													25	32					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16956025	16956025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16956025G>A	ENST00000318063.5	+	9	989	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R316H(1)									ACACTGAGACGTAACACAAGC	0.388000													73	121					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688117	132688117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132688117C>T	ENST00000328957.8	-	7	1195	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GALNT9_ENST00000397325.2_Missense_Mutation_p.R33H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R33H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R150H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	399					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCGGCGGCGCGCAGGGCGTT	0.637000													25	31					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60314120	60314120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60314120G>A	ENST00000371208.3	+	11	1320	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.V313I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	355	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCATAATACAGTCAGCTTAGA	0.328000													7	72					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153994250	153994250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153994250G>T	ENST00000369550.5	+	4	450	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	80					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTCTGAAGAGAGAGATTG	0.398000									Congenital Dyskeratosis				31	68					8.16721e-17	1.05573e-16	1	1	0
PPP3CC	5533	broad.mit.edu	37	8	22368598	22368598	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22368598G>T	ENST00000240139.5	+	5	811		c.e5-1		PPP3CC_ENST00000397775.3_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000289963.8_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTTTTGTTAGGTCGAATCAA	0.388000													6	91					1.12685e-05	1.27857e-05	1	1	0
MEF2A	0	broad.mit.edu	37	15	100185844	100185844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100185844C>T	ENST00000354410.5	+	4	762	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	MEF2A_ENST00000557785.1_Missense_Mutation_p.L45F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L45F|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.L45F|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000453228.2_Missense_Mutation_p.L45F|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	45	MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGAAATAGCACTCATCATTTT	0.328000													23	53					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562663	154562663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154562663C>T	ENST00000368474.4	-	7	2692	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ADAR_ENST00000292205.5_Silent_p.K874K|ADAR_ENST00000368471.3_Silent_p.K536K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	831					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTAACTGTCTTTGGCTGTG	0.537000													22	23					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214239746	214239746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:214239746G>A	ENST00000331683.5	+	9	940	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SPAG16_ENST00000374309.3_Missense_Mutation_p.R188H|SPAG16_ENST00000272898.7_Missense_Mutation_p.R282H|SPAG16_ENST00000447990.1_Missense_Mutation_p.R282H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	282					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATCATAGTCGTGAAAAAGAA	0.323000													12	24					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759732	141759732	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141759732A>C	ENST00000475668.2	+	33	4079	c.4025A>C	c.(4024-4026)aAa>aCa	p.K1342T	MGAM_ENST00000549489.2_Missense_Mutation_p.K1342T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1342	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTTCATCAAATACCCAAAT	0.498000													10	8					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33092956	33092956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33092956C>T	ENST00000306065.4	-	26	2890	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	911					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATACTCCTTGCGGTCAGTTTC	0.383000													37	102					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24262192	24262192	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24262192T>A	ENST00000295148.4	-	2	230	c.173A>T	c.(172-174)gAa>gTa	p.E58V	C2orf44_ENST00000406895.3_Missense_Mutation_p.E58V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	58							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGACACATTCAAACTGTCC	0.522000			T	ALK	NSCLC								17	43					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20295172	20295172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20295172T>C	ENST00000335117.8	+	2	95	c.38T>C	c.(37-39)tTg>tCg	p.L13S	ZNF486_ENST00000597083.1_Missense_Mutation_p.L13S|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAATCATTGCAATTTAGA	0.403000													12	165					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76582984	76582984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76582984G>A	ENST00000369981.3	+	20	2323	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.G682S|MYO6_ENST00000369985.4_Missense_Mutation_p.G682S|MYO6_ENST00000369977.3_Missense_Mutation_p.G682S			Q9UM54	MYO6_HUMAN	myosin VI	682	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCACTTTGAAGGTGCTCAAAT	0.358000													11	30					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33829975	33829975	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33829975A>G	ENST00000300255.2	+	3	901	c.428A>G	c.(427-429)gAc>gGc	p.D143G	EVA1C_ENST00000382699.3_Missense_Mutation_p.D143G|EVA1C_ENST00000401402.3_Missense_Mutation_p.D143G	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		TTTGGACCTGACCTTTGTCCA	0.527000													35	44					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99673044	99673044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99673044G>A	ENST00000336292.6	+	5	4596	c.4476G>A	c.(4474-4476)gcG>gcA	p.A1492A	SYNM_ENST00000560674.1_Silent_p.A895A|SYNM_ENST00000328642.7_Silent_p.A1180A|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGAGACGCGGACAGTAGGA	0.577000													5	129					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25280063	25280063	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25280063G>T	ENST00000329474.6	+	1	408	c.40_splice	c.e1+1	p.E14_splice	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	14					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGTTGATAGGTAAGATTCA	0.552000													9	102					1.08611e-07	1.2824e-07	1	1	0
LARS	51520	broad.mit.edu	37	5	145523015	145523015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145523015C>A	ENST00000394434.2	-	19	2003	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C	LARS_ENST00000545646.1_Missense_Mutation_p.G567C|LARS_ENST00000274562.9_Missense_Mutation_p.G586C|LARS_ENST00000510191.1_Missense_Mutation_p.G559C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCAAGTTACCCCCCTGCAAT	0.453000													11	166					1.08611e-07	1.2824e-07	1	1	0
FOXF2	2295	broad.mit.edu	37	6	1394964	1394964	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1394964C>A	ENST00000259806.1	+	2	1319	c.1205C>A	c.(1204-1206)cCa>cAa	p.P402Q		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	402					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CACTCTACTCCAGTGTGTGAC	0.463000													47	55					1.47857e-17	1.91928e-17	1	1	0
SLC43A2	124935	broad.mit.edu	37	17	1489322	1489322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1489322C>T	ENST00000571650.1	-	11	1420	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	SLC43A2_ENST00000301335.4_Missense_Mutation_p.G368S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.G231S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.G372S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	368					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGCACGCCGAAGATGGAG	0.647000													5	10					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66664997	66664997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:66664997G>A	ENST00000488550.1	+	2	440	c.141G>A	c.(139-141)tcG>tcA	p.S47S	MEIS1_ENST00000398506.2_Silent_p.S45S|MEIS1_ENST00000407092.2_Silent_p.S47S|MEIS1_ENST00000444274.2_Silent_p.S15S|MEIS1_ENST00000272369.9_Silent_p.S47S|MEIS1_ENST00000560281.2_Silent_p.S47S			O00470	MEIS1_HUMAN	Meis homeobox 1	47							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCTGCACTCGCATCAGTACC	0.577000													9	7					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260231	66260231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260231C>T	ENST00000532677.1	+	10	1491	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	DPP3_ENST00000541961.1_Missense_Mutation_p.R345W|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.R345W|DPP3_ENST00000360510.2_Missense_Mutation_p.R345W|DPP3_ENST00000530165.1_Missense_Mutation_p.R315W|DPP3_ENST00000531863.1_Missense_Mutation_p.R365W	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	345					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CAAGTTTGAGCGGCTGGTGGC	0.607000													26	55					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186329453	186329453	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329453A>G	ENST00000367478.3	-	11	1439	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	381					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGCTGCAGTAGGAGACA	0.368000			T	NTRK1	papillary thyroid								4	55					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936113	48936113	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48936113G>A	ENST00000294954.7	-	8	675	c.654C>T	c.(652-654)ttC>ttT	p.F218F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F218F|LHCGR_ENST00000401907.1_Silent_p.F218F|LHCGR_ENST00000405626.1_Silent_p.F218F|LHCGR_ENST00000403273.1_Silent_p.F218F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	218					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCCCACGGAAGGCTCCAT	0.537000													41	69					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935667	56935667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56935667T>C	ENST00000333201.9	+	5	1850	c.1640T>C	c.(1639-1641)tTc>tCc	p.F547S	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.F547S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		atggagtcattcttgactctt	0.428000													5	39					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161317903	161317903	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161317903G>A	ENST00000428797.2	+	9	1058		c.e9-1		GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTACTTCTCAGGAGAATATGT	0.363000													29	36					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563370	8563370	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563370C>T	ENST00000423345.4	-	2	1842	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R441Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CAGAGGCCTCCGCCGGGGTGG	0.711000													9	5					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133202895	133202895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133202895G>A	ENST00000320574.5	-	46	6382	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	POLE_ENST00000535270.1_Silent_p.S2086S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2113					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTGTCCAGGGACAGCACCT	0.607000								DNA polymerases (catalytic subunits)					6	20					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92767053	92767053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92767053C>T	ENST00000370343.3	+	3	249	c.140C>T	c.(139-141)gCt>gTt	p.A47V	RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	47						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTAGAAGCAGCTGTGAGAAAG	0.323000													20	54					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	323451	323451	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:323451G>T	ENST00000280886.6	-	37	4572	c.4485C>A	c.(4483-4485)gcC>gcA	p.A1495A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1495						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGTCCAAGGCTTCTTGTT	0.507000													4	55					0.00024832	0.0002712	1	1	0
WDR47	22911	broad.mit.edu	37	1	109538268	109538268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109538268G>T	ENST00000357672.3	-	7	1916	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N	WDR47_ENST00000400794.3_Missense_Mutation_p.T550N|WDR47_ENST00000369965.4_Missense_Mutation_p.T543N|WDR47_ENST00000369962.3_Missense_Mutation_p.T542N|WDR47_ENST00000361054.3_Missense_Mutation_p.T514N			O94967	WDR47_HUMAN	WD repeat domain 47	542										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTACGAGGAGTGCTTGTATG	0.388000													18	382					7.45023e-12	9.32672e-12	1	1	0
PAN2	9924	broad.mit.edu	37	12	56721409	56721409	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56721409G>T	ENST00000425394.2	-	6	1034	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	PAN2_ENST00000548043.1_Missense_Mutation_p.L220M|PAN2_ENST00000257931.5_Missense_Mutation_p.L220M|PAN2_ENST00000440411.3_Missense_Mutation_p.L220M	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGTCTCTCAGGGAAACCTAG	0.448000													8	60					3.09899e-07	3.63227e-07	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25467441	25467441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25467441C>A	ENST00000264709.3	-	14	1972	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	DNMT3A_ENST00000380746.4_Missense_Mutation_p.E356D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E322D|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E545D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	545	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGAGCACCTCACGGCCCC	0.632000			"""Mis, F, N, S"""		AML								4	39					0.150653	0.152692	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12655755C>T	ENST00000425538.1	+	10	1350	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_ENST00000395988.1_Nonsense_Mutation_p.R288*|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.R384*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453000													21	38					0	0	1	0	0
SPATA6L	55064	broad.mit.edu	37	9	4625414	4625414	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4625414A>C	ENST00000454239.2	-	7	827	c.582T>G	c.(580-582)caT>caG	p.H194Q	SPATA6L_ENST00000381895.5_Missense_Mutation_p.H71Q|SPATA6L_ENST00000381890.5_Missense_Mutation_p.H208Q|SPATA6L_ENST00000475086.1_Missense_Mutation_p.H136Q|SPATA6L_ENST00000223517.5_5'UTR			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	136																	CCTGGAAGAAATGCCTGGTAG	0.433000													7	51					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21470442	21470442	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21470442T>C	ENST00000222584.3	+	3	1877	c.1659T>C	c.(1657-1659)gtT>gtC	p.V553V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	553					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGTTCCCGTTACAATCACTA	0.408000													5	110					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121032925	121032925	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121032925G>A	ENST00000392793.1	+	16	5389	c.5118G>A	c.(5116-5118)ggG>ggA	p.G1706G	TECTA_ENST00000264037.2_Silent_p.G1706G			O75443	TECTA_HUMAN	tectorin alpha	1706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGCTATGGGCTTCTCGATC	0.587000													18	37					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150934222	150934222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150934222C>T	ENST00000261800.5	-	4	3658	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1216	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCATTGTCCAGCACAGTC	0.473000													24	39					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153731	19153731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19153731C>T	ENST00000269214.5	-	4	2011	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	358					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTGCACATCCTGATTTGTTT	0.363000													10	130					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148705697	148705697	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:148705697T>G	ENST00000535373.1	-	10	1117	c.685A>C	c.(685-687)Ata>Cta	p.I229L	ORC4_ENST00000540442.1_Missense_Mutation_p.I155L|ORC4_ENST00000392857.4_Missense_Mutation_p.I229L|ORC4_ENST00000264169.2_Missense_Mutation_p.I229L|ORC4_ENST00000392858.1_Missense_Mutation_p.I229L|ORC4_ENST00000542387.1_Missense_Mutation_p.I12L|ORC4_ENST00000536575.1_Missense_Mutation_p.I145L	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	229					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTTTAAATATTTTAACATAC	0.333000													7	87					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85560115	85560115	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85560115T>A	ENST00000295887.5	+	9	1272	c.849T>A	c.(847-849)ggT>ggA	p.G283G		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	283					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTGGTGGTTTCTTTTCCA	0.299000													14	37					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896036	90896036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90896036G>A	ENST00000287934.2	+	1	2254	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	614					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGATCGTGGGCATCACGTCG	0.607000													38	32					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38610792	38610792	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38610792T>C	ENST00000288304.5	-	3	986	c.194A>G	c.(193-195)gAg>gGg	p.E65G	DSCR3_ENST00000309117.6_Missense_Mutation_p.E107G|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Missense_Mutation_p.E107G|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59G|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399001.1_Intron			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	107					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATGATACGTCTCATACAGAAC	0.453000													6	161					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416412	105416412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416412G>A	ENST00000333244.5	-	7	5495	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1792						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCCTCGACGTCCACCTCCA	0.632000													85	113					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18327847	18327847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18327847C>T	ENST00000396253.3	-	6	779	c.317G>A	c.(316-318)gGa>gAa	p.G106E	HPS5_ENST00000438420.2_Missense_Mutation_p.G106E|HPS5_ENST00000531848.1_Missense_Mutation_p.G106E|HPS5_ENST00000349215.3_Missense_Mutation_p.G220E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	220						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACAAGCTCCATATTCTCC	0.403000									Hermansky-Pudlak syndrome				17	24					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406524	38406524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406524A>G	ENST00000351773.3	+	8	1275	c.445A>G	c.(445-447)Aat>Gat	p.N149D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.N149D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	149						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTTTGAATACAATGAATGTGG	0.368000													32	45					0	0	1	0	0
CLCNKA	0	broad.mit.edu	37	1	16353030	16353030	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353030G>T	ENST00000375692.1	+	7	626		c.e7-1		CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000331433.4_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCG	0.662000													18	18					3.99206e-14	5.08633e-14	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186544816	186544816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544816G>A	ENST00000431808.1	-	14	2318	c.1755C>T	c.(1753-1755)agC>agT	p.S585S	SORBS2_ENST00000418609.1_Silent_p.S489S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S585S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.S685S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	585						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGCTCATCGCTGGTGACTT	0.592000													22	32					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448941	52448941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448941C>A	ENST00000293471.6	+	6	2484	c.1805C>A	c.(1804-1806)cCt>cAt	p.P602H	ZNF613_ENST00000391794.4_Missense_Mutation_p.P566H|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGAGCCAGCCTGTTGCCAGA	0.438000													10	16					7.03913e-09	8.47891e-09	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53240002	53240002	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53240002G>A	ENST00000452825.3	-	9	1770	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	KDM5C_ENST00000404049.3_Missense_Mutation_p.P479L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P439L|KDM5C_ENST00000375401.3_Missense_Mutation_p.P480L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCCAACACCGGCATCACATT	0.488000			"""N, F, S"""		clear cell renal carcinoma								5	53					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34666916	34666916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34666916C>A	ENST00000374789.3	-	10	1843	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	PARD3_ENST00000374794.3_Missense_Mutation_p.K462N|PARD3_ENST00000340077.5_Missense_Mutation_p.K506N|PARD3_ENST00000350537.4_Missense_Mutation_p.K506N|PARD3_ENST00000346874.4_Missense_Mutation_p.K506N|PARD3_ENST00000544292.1_Missense_Mutation_p.K236N|PARD3_ENST00000374776.1_Missense_Mutation_p.K506N|PARD3_ENST00000545693.1_Missense_Mutation_p.K506N|PARD3_ENST00000374790.3_Missense_Mutation_p.K462N|PARD3_ENST00000374773.1_Missense_Mutation_p.K506N|PARD3_ENST00000545260.1_Missense_Mutation_p.K462N|PARD3_ENST00000374788.3_Missense_Mutation_p.K506N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	506	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTCCTGCCTTAAGTCGGC	0.468000													55	68					1.54886e-18	2.02154e-18	1	1	0
PLTP	5360	broad.mit.edu	37	20	44531097	44531097	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44531097C>T	ENST00000477313.1	-	10	1683	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	PLTP_ENST00000372420.1_Silent_p.Q275Q|PLTP_ENST00000372431.3_Silent_p.Q363Q|PLTP_ENST00000354050.4_Silent_p.Q311Q|PLTP_ENST00000542937.1_Silent_p.Q383Q|PLTP_ENST00000420868.2_Silent_p.Q268Q			P55058	PLTP_HUMAN	phospholipid transfer protein	363					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGACAGCTGGACCTCAG	0.612000													6	115					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35066787	35066787	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35066787G>A	ENST00000358901.6	-	4	1225	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	110					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACGTTTGCCGTACTTCACAT	0.512000													28	49					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130733175	130733175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130733175G>T	ENST00000264992.3	-	6	2207	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	ASTE1_ENST00000514044.1_Missense_Mutation_p.S614Y|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	589					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACTTTCTACAGAGGTCGATGC	0.428000													4	59					5.9392e-07	6.91975e-07	1	1	0
APOBEC3H	164668	broad.mit.edu	37	22	39497438	39497438	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39497438G>A	ENST00000442487.3	+	3	474	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.C116Y	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	116					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TACCACTGGTGCAAGCCCCAG	0.592000													4	32					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305383	9305383	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9305383C>T	ENST00000377403.2	+	2	692	c.390C>T	c.(388-390)caC>caT	p.H130H	H6PD_ENST00000602477.1_Silent_p.H141H	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	130	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGCTCCAGCACGCAGGCCTCC	0.597000													13	70					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197059198	197059198	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059198C>T	ENST00000367409.4	-	25	10102	c.9846G>A	c.(9844-9846)ttG>ttA	p.L3282L	ASPM_ENST00000367408.1_Silent_p.L947L|ASPM_ENST00000294732.7_Silent_p.L1697L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3282					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAGTGGAGACAATCTAGTAA	0.338000													4	77					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016682	58016682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016682G>A	ENST00000379218.2	+	6	1215	c.904G>A	c.(904-906)Gca>Aca	p.A302T	SLC26A10_ENST00000320442.4_Missense_Mutation_p.A302T			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	302						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCCATCCATGCAGACAAGTA	0.562000													18	26					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350537	71350537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350537C>T	ENST00000545866.1	-	1	1221	c.854G>A	c.(853-855)cGc>cAc	p.R285H	RGAG4_ENST00000479991.1_Missense_Mutation_p.R285H|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	285										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGCTCTTTGCGGAAGAATTC	0.502000													10	147					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20103712	20103712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20103712G>A	ENST00000252136.7	-	2	836	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.P150S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	150					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CTGGCCATGGGGTCGGCCTTG	0.662000													12	27					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169630	132169630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132169630T>C	ENST00000260818.6	+	6	724	c.476T>C	c.(475-477)tTt>tCt	p.F159S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	159							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTGAAGGATTTGTAGATCTC	0.323000													6	66					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518259	195518259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195518259C>T	ENST00000463781.3	-	2	651	c.192G>A	c.(190-192)agG>agA	p.R64R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R64R|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	64					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTAGAGGTCCTTGAAGAAG	0.488000													53	113					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190742	17190742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190742C>A	ENST00000265970.7	-	1	546	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	183					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATATAGGTTCTGTAGATGGA	0.398000													38	66					2.40579e-17	3.11917e-17	1	1	0
DFNB31	25861	broad.mit.edu	37	9	117169038	117169038	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117169038G>T	ENST00000362057.3	-	9	2001	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	DFNB31_ENST00000374059.3_Silent_p.S260S|DFNB31_ENST00000265134.6_Silent_p.S228S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	611	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCATGGAGGAAGGTGGCT	0.667000													3	25					0.004672	0.0049138	1	1	0
PTK6	5753	broad.mit.edu	37	20	62162171	62162171	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62162171G>A	ENST00000217185.2	-	6	969	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PTK6_ENST00000542869.1_Silent_p.A213A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	314	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGTTCCTGGCGGCCAGGTCCC	0.607000													17	20					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815519	175815519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175815519T>C	ENST00000389158.5	-	1	457	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	NOP16_ENST00000510123.1_Missense_Mutation_p.T8A|NOP16_ENST00000509257.1_Missense_Mutation_p.T8A|NOP16_ENST00000507413.1_Missense_Mutation_p.T8A			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	8						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TGCCTCCGGGTTTTGCCCTTG	0.602000													9	62					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140419810	140419810	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140419810C>T	ENST00000286349.3	+	5	2357	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	722						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGAAGCACTTCTGAGCCC	0.458000													15	23					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641564	23641564	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23641564G>T	ENST00000261584.4	-	5	2063	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	637					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGACTCAAAGGGCTCCACTG	0.413000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					7	137					5.18039e-06	5.91835e-06	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327968	88327968	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:88327968A>C	ENST00000325089.6	+	2	544	c.325A>C	c.(325-327)Att>Ctt	p.I109L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	109						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGGCTTCAATTTTGCATCT	0.453000													58	91					0	0	1	0	0
SIKE1	80143	broad.mit.edu	37	1	115321893	115321893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115321893G>A	ENST00000369528.5	-	3	367	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Missense_Mutation_p.S93F	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	93						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCCTCCAAGGAAATCCATAG	0.388000													5	79					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412269	81412269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81412269C>T	ENST00000430430.1	+	3	2292	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213W|ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505W|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505W	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGGGCAACACGGAATCTTAC	0.373000													10	111					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840632	1840632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840632C>T	ENST00000331238.5	-	2	502	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	162					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGAGGTACTCGATGTGGTTG	0.632000													6	44					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4794893	4794893	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4794893C>T	ENST00000299320.5	+	6	1402	c.924C>T	c.(922-924)caC>caT	p.H308H	C16orf71_ENST00000590191.1_Silent_p.H322H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	308										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAGCGCCCACAACAGGCTCA	0.622000													11	21					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100609634	100609634	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609634C>A	ENST00000370141.2	+	9	758	c.752C>A	c.(751-753)cCt>cAt	p.P251H	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		GACAAGATTCCTGTGCTAAGA	0.348000													17	53					3.57192e-18	4.65187e-18	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262270	39262270	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39262270C>T	ENST00000280481.7	+	1	1005	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	263					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632000													29	37					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59955432	59955432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59955432C>A	ENST00000444766.3	-	18	2371	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	INTS2_ENST00000251334.6_Missense_Mutation_p.V758L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	766					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGTTATTTACTGGGACAGCT	0.363000													17	40					4.7546e-09	5.74312e-09	1	1	0
CEP350	9857	broad.mit.edu	37	1	179983260	179983260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179983260G>A	ENST00000367607.3	+	10	2090	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	558						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTCATCAGCACCAGTACA	0.433000													11	6					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23155602	23155602	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23155602A>G	ENST00000389131.3	-	14	2648	c.2279T>C	c.(2278-2280)tTt>tCt	p.F760S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	760					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAAGTGCTCAAACTTTTTTTC	0.537000													4	20					0	0	1	0	0
DCAF11	0	broad.mit.edu	37	14	24588928	24588928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24588928C>A	ENST00000446197.3	+	11	1642	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DCAF11_ENST00000559115.1_Silent_p.S305S|DCAF11_ENST00000396936.1_Silent_p.S205S|DCAF11_ENST00000396941.4_Silent_p.S279S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305						CUL4 RING ubiquitin ligase complex	protein binding										AGATTGAGTCCCATGAGGATG	0.483000													21	41					5.35356e-11	6.64197e-11	1	1	0
ZDHHC3	51304	broad.mit.edu	37	3	45000730	45000730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45000730G>A	ENST00000296127.3	-	2	472	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZDHHC3_ENST00000424952.2_Silent_p.L67L|ZDHHC3_ENST00000342790.4_Silent_p.L67L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	67						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGGAATCAGCATGACAAAG	0.552000													10	78					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15581678	15581678	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15581678C>A	ENST00000424120.1	+	30	4113	c.3859C>A	c.(3859-3861)Ctt>Att	p.L1287I	CC2D2A_ENST00000413206.1_Missense_Mutation_p.L1287I|CC2D2A_ENST00000503292.1_Missense_Mutation_p.L1287I|CC2D2A_ENST00000389652.5_Missense_Mutation_p.L1179I			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1287					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCGTCAGTGCCTTACAACAGT	0.368000													4	94					0.150653	0.152692	1	1	0
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313000													24	40					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19464554	19464554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19464554G>A	ENST00000375267.2	-	60	8856	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	UBR4_ENST00000375254.3_Silent_p.G2951G|UBR4_ENST00000375217.2_Silent_p.G2944G|UBR4_ENST00000375226.2_Silent_p.G2927G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ctccctcGGAGCCATCTCCCT	0.557000													15	22					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535181	95535181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95535181C>A	ENST00000343958.4	-	6	3043	c.2820G>T	c.(2818-2820)gaG>gaT	p.E940D	FGD6_ENST00000549499.1_Missense_Mutation_p.E940D|FGD6_ENST00000546711.1_Missense_Mutation_p.E940D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	940	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACATTCTTTCCTCCAGTTCCT	0.428000													4	63					0.00909568	0.00947522	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91230488	91230488	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:91230488A>G	ENST00000509176.1	+	2	1341	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	CCSER1_ENST00000333691.8_Silent_p.Q351Q|CCSER1_ENST00000432775.2_Silent_p.Q351Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TGTTATTACAAATTGCTGAAC	0.393000													8	43					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012454	6012454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6012454C>A	ENST00000259569.5	-	1	3164	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1052					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTTTCCTTCTGCAATTATA	0.373000													6	55					2.0095e-06	2.31757e-06	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11854129	11854129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854129C>A	ENST00000376592.1	-	8	1493	c.1365G>T	c.(1363-1365)tgG>tgT	p.W455C	MTHFR_ENST00000376583.3_Missense_Mutation_p.W496C|MTHFR_ENST00000376585.1_Missense_Mutation_p.W496C|MTHFR_ENST00000376590.3_Missense_Mutation_p.W455C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	455					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTCATCGTTCCAGGGCAGGC	0.637000													30	40					2.12542e-12	2.67336e-12	1	1	0
TENM2	57451	broad.mit.edu	37	5	167671627	167671627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167671627C>T	ENST00000519204.1	+	25	5478	c.5360C>T	c.(5359-5361)gCc>gTc	p.A1787V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1669V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1732V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1908V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1907V					teneurin transmembrane protein 2																		CAGCGTGGGGCCATGAGCGAG	0.617000													18	41					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316260	11316260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11316260C>T	ENST00000380712.3	+	4	208	c.140C>T	c.(139-141)gCa>gTa	p.A47V	ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACAGGACTGCATTAGTGAGT	0.358000													30	323					0	0	1	0	0
PRICKLE1	0	broad.mit.edu	37	12	42860069	42860069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42860069G>A	ENST00000455697.1	-	6	987	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PRICKLE1_ENST00000552240.1_Silent_p.D234D|PRICKLE1_ENST00000345127.3_Silent_p.D234D|PRICKLE1_ENST00000548696.1_Silent_p.D234D|PRICKLE1_ENST00000445766.2_Silent_p.D234D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	234	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGGGCGGCCGTCCTTCATGA	0.542000													5	41					0	0	1	0	0
NINJ1	4814	broad.mit.edu	37	9	95888857	95888857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95888857C>T	ENST00000375446.4	-	2	209	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	47					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTCTCGGCTGCGCTCTTCTTG	0.667000													17	35					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31591522	31591522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591522G>A	ENST00000379416.3	-	19	2033	c.1985C>T	c.(1984-1986)aCt>aTt	p.T662I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	662					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAACACAAGTAACCTAGTA	0.468000													31	50					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23929924C>T	ENST00000382298.3	-	8	1415	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000382292.3_Missense_Mutation_p.R276H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413000													18	37					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251862	68251862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68251862C>A	ENST00000347230.4	-	19	3575	c.3437G>T	c.(3436-3438)aGc>aTc	p.S1146I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1146I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1146					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTGCCTGCTGCCTGATGG	0.562000													12	97					0.000978159	0.00105116	1	1	0
GPR1	2825	broad.mit.edu	37	2	207041404	207041404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207041404T>C	ENST00000407325.2	-	3	930	c.568A>G	c.(568-570)Aat>Gat	p.N190D	GPR1_ENST00000437420.1_Missense_Mutation_p.N190D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	190						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTGAAAATTGTTATAGCAA	0.418000													34	33					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54961320	54961320	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:54961320C>T	ENST00000395909.4	-	5	877	c.312G>A	c.(310-312)tcG>tcA	p.S104S	AURKA_ENST00000371356.2_Silent_p.S104S|AURKA_ENST00000395913.3_Silent_p.S104S|AURKA_ENST00000395907.1_Silent_p.S104S|AURKA_ENST00000395914.1_Silent_p.S104S|AURKA_ENST00000312783.6_Silent_p.S104S|AURKA_ENST00000395915.3_Silent_p.S104S|AURKA_ENST00000347343.2_Silent_p.S104S|AURKA_ENST00000395911.1_Silent_p.S104S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	104			S -> L (in dbSNP:rs2230743).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACCAGGTGCCGATGGCAGGG	0.463000													13	89					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642601	127642601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642601G>T	ENST00000405109.1	+	2	1164	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A233S|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	233	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTTAAGACAAGCCCTAAGAAG	0.383000													10	67					2.17888e-05	2.45068e-05	1	1	0
HCAR1	27198	broad.mit.edu	37	12	123214100	123214100	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123214100T>C	ENST00000432564.1	-	1	1029	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	HCAR1_ENST00000436083.2_Missense_Mutation_p.T263A|HCAR1_ENST00000356987.2_Missense_Mutation_p.T263A	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	263					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AAGCTGAGGGTTATGTGCAGG	0.522000													36	41					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42674295	42674295	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42674295A>G	ENST00000232978.8	+	9	941	c.753A>G	c.(751-753)aaA>aaG	p.K251K	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	251					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGAATAAACATGCAATGA	0.383000													6	26					0	0	1	0	0
HIBCH	26275	broad.mit.edu	37	2	191116931	191116931	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191116931A>G	ENST00000392332.3	-	8	759	c.620T>C	c.(619-621)gTg>gCg	p.V207A	HIBCH_ENST00000359678.5_Missense_Mutation_p.V207A			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	207					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TGCTCTGTACACATCTCTTCC	0.388000													21	55					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351859	134351859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134351859G>T	ENST00000357304.4	+	15	4398	c.4343G>T	c.(4342-4344)gGt>gTt	p.G1448V	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1448							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTAGGCCAGGTGGTGGTGAC	0.562000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00909568	0.00947522	1	1	0
SLC22A1	6580	broad.mit.edu	37	6	160543249	160543249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160543249C>T	ENST00000366963.4	+	1	429	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SLC22A1_ENST00000457470.2_Silent_p.D94D|SLC22A1_ENST00000324965.4_Silent_p.D94D	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	94						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGAAGTGGACTGGAACCAGA	0.667000													28	37					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059141	13059141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13059141G>A	ENST00000586534.1	+	3	446	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RAD23A_ENST00000592268.1_Missense_Mutation_p.A129T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A129T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	129					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAGGAATCCGCCCCCACGAC	0.642000								Nucleotide excision repair (NER)					11	25					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986519	165986519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986519A>G	ENST00000360093.3	-	17	3344	c.2853T>C	c.(2851-2853)tgT>tgC	p.C951C	SCN3A_ENST00000409101.3_Silent_p.C902C|SCN3A_ENST00000283254.7_Silent_p.C951C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	951						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGACCTCCATACAGTCCCACA	0.473000													54	87					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59487690	59487690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59487690G>A	ENST00000288235.4	-	17	2174	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	592	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCTTCTTGGTTTCGTTTGG	0.522000													44	64					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806043	54806043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54806043G>T	ENST00000306858.7	+	5	2390	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	758										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTCAAAGAAGGAAGTTA	0.378000													27	58					6.32553e-13	7.99037e-13	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98212155	98212155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98212155C>T	ENST00000430669.2	-	21	3904	c.3319G>A	c.(3319-3321)Gtg>Atg	p.V1107M	PTCH1_ENST00000331920.6_Missense_Mutation_p.V1173M|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1172M|PTCH1_ENST00000429896.2_Missense_Mutation_p.V1022M|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1107M			Q13635	PTC1_HUMAN	patched 1	1173					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1170_P1180>WT(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GACAAAAGCACGGGAAGCAAA	0.542000													5	15					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140459020	140459020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140459020A>G	ENST00000277540.2	-	8	972	c.815T>C	c.(814-816)aTg>aCg	p.M272T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CGGCTGCTTCATGTTTCGTGT	0.557000													7	63					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258236C>T	ENST00000569417.1	+	7	953	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632000													9	104					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113212	42113212	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42113212A>G	ENST00000457542.2	+	23	2950	c.2664A>G	c.(2662-2664)ccA>ccG	p.P888P	MAPKBP1_ENST00000221214.6_Silent_p.P771P|MAPKBP1_ENST00000260357.7_Silent_p.P727P|MAPKBP1_ENST00000456763.2_Silent_p.P894P|MAPKBP1_ENST00000514566.1_Silent_p.P888P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	894										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCATCATCCCATCTGGTCCCA	0.592000													4	35					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203186	1203186	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1203186G>T	ENST00000347370.2	-	0	375				UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000400930.4_Intron	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2						response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGGGCCGGCAGAGGCCTGCGT	0.682000													6	40					0.00198382	0.00210581	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088857	86088857	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088857C>T	ENST00000330753.4	+	2	1766	c.999C>T	c.(997-999)aaC>aaT	p.N333N	FLRT2_ENST00000554746.1_Silent_p.N333N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	333	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCTCAACGTGCGGGGTT	0.507000													57	117					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13051399	13051399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13051399G>A	ENST00000316448.5	+	6	820	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	249	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTAAGAAGCCCGAGGACT	0.572000													9	34					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153587380	153587380	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587380T>C	ENST00000422373.1	-	26	4694	c.4446A>G	c.(4444-4446)ccA>ccG	p.P1482P	FLNA_ENST00000344736.4_Silent_p.P1482P|FLNA_ENST00000360319.4_Silent_p.P1482P|FLNA_ENST00000369850.3_Silent_p.P1482P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1482					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCTGCAATGGGGCCACAC	0.612000													5	145					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760494	102760494	+	Silent	SNP	C	C	T	rs144069186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102760494C>T	ENST00000417955.1	-	3	625	c.471G>A	c.(469-471)tcG>tcA	p.S157S	NAPEPLD_ENST00000341533.4_Silent_p.S157S|NAPEPLD_ENST00000455523.2_Silent_p.S230S|NAPEPLD_ENST00000427257.1_Silent_p.S157S|NAPEPLD_ENST00000465647.1_Silent_p.S157S			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	157					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATGTACTGCGATGGTGAAG	0.493000													44	122					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417156	50417156	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50417156C>T	ENST00000435965.1	-	10	1166	c.993_splice	c.e10+1	p.S331_splice	CACNA2D2_ENST00000424201.2_Splice_Site_p.S331_splice|CACNA2D2_ENST00000479441.1_Splice_Site_p.S331_splice|CACNA2D2_ENST00000429770.1_Splice_Site_p.S331_splice|CACNA2D2_ENST00000360963.3_Splice_Site_p.S262_splice|CACNA2D2_ENST00000266039.3_Splice_Site_p.S331_splice|CACNA2D2_ENST00000423994.2_Splice_Site_p.S331_splice|CACNA2D2_ENST00000395083.1_Splice_Site_p.S331_splice			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	331	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGGCACTCACCGAGGCCACAT	0.592000													11	22					0	0	1	0	0
CLCNKA	0	broad.mit.edu	37	1	16359021	16359021	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16359021G>T	ENST00000375692.1	+	19	2054	c.1926_splice	c.e19+1	p.Q642_splice	CLCNKA_ENST00000420078.1_Splice_Site_p.Q642_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.Q600_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Splice_Site_p.Q643_splice			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	643	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTGCACCAGGTAACAAGTA	0.642000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	84					8.60227e-14	1.09385e-13	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65793574	65793574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65793574G>A	ENST00000312106.5	-	1	414	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	93	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTGTGGGGCCATGGGCT	0.617000													11	132					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1982978	1982978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1982978G>A	ENST00000399161.2	-	8	858	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MYT1L_ENST00000428368.2_Silent_p.D37D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCACTGCCGTCACAGCCAG	0.517000													5	5					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490258	150490258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490258G>A	ENST00000447204.2	-	5	890	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TMEM176B_ENST00000492607.1_Missense_Mutation_p.T173I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T136I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T173I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T173I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T173I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	173					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACCCAGTGGTAGGGAAGAC	0.507000													49	45					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378993	138378993	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378993G>A	ENST00000356818.2	+	4	3186	c.2637G>A	c.(2635-2637)agG>agA	p.R879R	PPP1R26_ENST00000604351.1_Silent_p.R879R|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.R879R|PPP1R26_ENST00000605660.1_Silent_p.R879R|PPP1R26_ENST00000401470.3_Silent_p.R879R	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	879						nucleolus	protein binding										TGCTGTGCAGGAAGGAGCCTG	0.672000													27	41					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36214109	36214109	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36214109T>C	ENST00000251195.5	-	13	2465	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	CLSPN_ENST00000520551.1_Missense_Mutation_p.N737S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N726S|CLSPN_ENST00000318121.3_Missense_Mutation_p.N790S			Q9HAW4	CLSPN_HUMAN	claspin	790					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTGTCTGTTGCAAGGCTG	0.488000													11	80					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501694	48501694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48501694C>A	ENST00000412052.1	+	8	1424	c.962C>A	c.(961-963)cCt>cAt	p.P321H	ATRIP_ENST00000357105.6_Missense_Mutation_p.P287H|ATRIP_ENST00000320211.3_Missense_Mutation_p.P414H|ATRIP_ENST00000346691.4_Missense_Mutation_p.P414H	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	414					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCAGCTTCCTGGAGCCGTG	0.592000								Other conserved DNA damage response genes					9	112					1.12685e-05	1.27857e-05	1	1	0
TGFB3	7043	broad.mit.edu	37	14	76437556	76437556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76437556C>T	ENST00000238682.3	-	3	856	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	TGFB3_ENST00000556285.1_Missense_Mutation_p.G187S|RP11-270M14.5_ENST00000553732.1_lincRNA	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	187					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTCTTGCCACCGATATAGCGC	0.562000													21	33					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329814	62329814	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62329814G>A	ENST00000369996.1	+	3	901	c.801G>A	c.(799-801)gcG>gcA	p.A267A	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TCCTGGGGGCGCAGGACGGGG	0.756000													4	6					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329615	75329615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329615C>T	ENST00000556489.2	-	1	922	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PROX2_ENST00000445876.1_Missense_Mutation_p.R308H|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	308					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAATCTAGACGCTTGGCCAG	0.552000													43	58					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290332	83290332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290332G>A	ENST00000549919.1	+	4	3177	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	TMTC2_ENST00000548305.1_Missense_Mutation_p.V464I|TMTC2_ENST00000321196.3_Missense_Mutation_p.V464I			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	464						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TACACTAATTGTTTTTTATGG	0.408000													31	34					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242354	60242354	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60242354T>C	ENST00000269499.5	+	13	3458	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S693P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1014					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTGGTTCTTGTGGGCG	0.527000													10	13					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887909	9887909	+	Missense_Mutation	SNP	C	C	T	rs142043945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9887909C>T	ENST00000306084.6	+	2	1632	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TXNDC2_ENST00000357775.4_Missense_Mutation_p.T411M|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	478	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTCGGCCACGTGGTGTGGG	0.592000													5	19					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19635124	19635124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19635124G>A	ENST00000235835.3	-	2	332	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	104					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCCTTGGTGGCAATTTT	0.478000													23	31					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560108	210560108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210560108C>A	ENST00000360351.4	+	7	3720	c.3214C>A	c.(3214-3216)Ctt>Att	p.L1072I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L1068I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1072					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCTAAAACTTGAGGCTAC	0.463000													24	42					3.08376e-08	3.68275e-08	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5462688	5462688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5462688G>A	ENST00000296564.7	+	13	3463	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1081										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACATGGAGAGACACAGGA	0.473000													47	80					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35310341	35310341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35310341C>T	ENST00000225402.5	+	3	690	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	147	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGCAAAAACACCGGGCTTCAG	0.512000													25	27					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113590400	113590400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113590400G>T	ENST00000263341.2	-	5	515	c.305C>A	c.(304-306)cCt>cAt	p.P102H	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	102					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GAAGAAGATAGGTTCTGAAAT	0.493000													5	52					0.184627	0.186383	1	1	0
STX4	6810	broad.mit.edu	37	16	31049324	31049324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31049324C>T	ENST00000394998.1	+	7	793	c.450C>T	c.(448-450)aaC>aaT	p.N150N	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.N152N	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	152					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGGAGAAGAACGTGGAGCGGA	0.547000													13	36					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827248	103827248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103827248C>T	ENST00000299238.5	+	1	2102	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	673						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AATCTTCAAACTGCTGCTGGC	0.627000									Hermansky-Pudlak syndrome				24	40					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32778978	32778978	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32778978T>G	ENST00000328834.5	+	13	1907	c.1591T>G	c.(1591-1593)Tta>Gta	p.L531V	CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	531					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373000													4	35					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199620	155199620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155199620C>T	ENST00000460012.1	-	23	4462	c.4105G>A	c.(4105-4107)Ggc>Agc	p.G1369S	PLCH1_ENST00000334686.6_Missense_Mutation_p.G1369S|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1407S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1369S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1407					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACAGTAGCCGTTTCTCAAA	0.413000													9	98					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511605	23511605	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511605C>T	ENST00000408907.2	+	1	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTTCCGCTTCCGTCATGGAG	0.637000													4	44					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58331658	58331658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58331658G>A	ENST00000528954.1	-	3	322	c.203C>T	c.(202-204)aCt>aTt	p.T68I	LPXN_ENST00000528489.1_Intron|LPXN_ENST00000395074.2_Missense_Mutation_p.T63I	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	63					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATATTGGTAGTATACACGAG	0.303000													11	35					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103338803	103338803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103338803G>A	ENST00000374879.4	+	10	1496	c.1064G>A	c.(1063-1065)tGc>tAc	p.C355Y	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.M318I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C316Y	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AACAGAAAATGCCCCAAAAAC	0.318000													31	40					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	439372	439372	+	Missense_Mutation	SNP	C	C	T	rs139990627	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:439372C>T	ENST00000432829.2	+	40	5319	c.5003C>T	c.(5002-5004)gCg>gTg	p.A1668V	DOCK8_ENST00000469391.1_Missense_Mutation_p.A1636V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A1203V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A1736V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCAGGCCGCGGAGCTCTTC	0.642000													22	22					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101717621	101717621	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101717621T>G	ENST00000254190.3	-	3	2856	c.2381A>C	c.(2380-2382)aAt>aCt	p.N794T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	794					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATTATTATTGCTGCTTTT	0.388000													18	37					0	0	1	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434792	3434792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3434792G>A	ENST00000396852.4	-	6	1208	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W					zinc finger and SCAN domain containing 32																		TCTGGGGTCCGCAGAAAACCC	0.502000													84	156					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23900677	23900677	+	Missense_Mutation	SNP	C	C	T	rs3218713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23900677C>T	ENST00000355349.3	-	9	908	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	249	Myosin head-like.		R -> Q (in CMH1; dbSNP:rs3218713).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAAATGAATTCGAATGAATTT	0.507000													48	81					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34175835	34175835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34175835C>T	ENST00000435224.2	-	16	3281	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	ABTB2_ENST00000298992.2_Missense_Mutation_p.V767M	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGGTGTTCACGGCACTCTCC	0.632000													10	13					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858806	4858806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4858806G>A	ENST00000323997.6	+	8	904	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ENO3_ENST00000518175.1_Missense_Mutation_p.D258N|ENO3_ENST00000519584.1_Missense_Mutation_p.D215N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	258					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGGAAGTACGATCTTGACTT	0.542000													109	158					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95412549	95412549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95412549G>A	ENST00000336148.5	-	7	1211	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCTTCCAGGTGTGACAATT	0.393000								Direct reversal of damage;Homologous recombination					8	48					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99677334	99677334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99677334G>T	ENST00000370597.3	-	5	993	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P213H|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P213H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	213						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTGGCCTCAGGGTCCATTTC	0.557000													4	30					0.00909568	0.00947522	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502000													43	94					0	0	1	0	0
ANKRD19P	0	broad.mit.edu	37	9	95599978	95599978	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95599978G>A	ENST00000473204.1	+	0	2059																											AGGACGCGACGACCAGGGAGG	0.453000													6	6					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672753	31672753	+	Missense_Mutation	SNP	G	G	A	rs145491929		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31672753G>A	ENST00000375483.3	+	4	733	c.733G>A	c.(733-735)Gtg>Atg	p.V245M		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	245						cytoplasm|extracellular region	lipid binding										CCTGCCCGGCGTGGGTGTCTA	0.667000													12	14					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712526	152712526	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152712526C>A	ENST00000367255.5	-	52	8491	c.7890G>T	c.(7888-7890)gaG>gaT	p.E2630D	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2669D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2630D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2637D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2630					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGTGCTTCCTCCAGGGCTT	0.562000										HNSCC(10;0.0054)			20	23					9.7654e-05	0.000108049	1	1	0
COL9A1	1297	broad.mit.edu	37	6	71003927	71003927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71003927G>A	ENST00000357250.6	-	5	797	c.639C>T	c.(637-639)gaC>gaT	p.D213D	COL9A1_ENST00000370496.3_Silent_p.D213D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	213	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCCATCAATGTCAATTGGGC	0.408000													55	109					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317600	103317600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103317600T>C	ENST00000233969.2	+	8	1800	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	553						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAAGTATTGTATCTTTATAT	0.323000													26	28					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160055501	160055501	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160055501C>T	ENST00000263635.6	+	19	3418	c.3181C>T	c.(3181-3183)Ctg>Ttg	p.L1061L	TANC1_ENST00000454300.1_Silent_p.L955L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1061						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTGCTTGCTGGGGATGGA	0.463000													11	29					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571786	53571786	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53571786A>G	ENST00000601421.1	-	3	2769	c.1893T>C	c.(1891-1893)caT>caC	p.H631H	ZNF160_ENST00000418871.1_Silent_p.H667H|ZNF160_ENST00000599056.1_Silent_p.H667H|ZNF160_ENST00000429604.1_Silent_p.H667H			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	667					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGATGACCTTATGGGTAGTTA	0.428000													13	121					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112528603	112528603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112528603C>A	ENST00000261745.4	-	3	458	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	70						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGCTGCCACCTCCTGTGCAA	0.413000													49	98					9.22156e-22	1.21485e-21	1	1	0
LRP4	4038	broad.mit.edu	37	11	46898317	46898317	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46898317C>A	ENST00000378623.1	-	24	3584	c.3342G>T	c.(3340-3342)caG>caT	p.Q1114H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1114					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTCCTCATGCTGTGAGCCAT	0.542000													8	180					0.00829132	0.00869385	1	1	0
PCDHB16	0	broad.mit.edu	37	5	140564037	140564037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140564037G>A	ENST00000361016.2	+	1	3058	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.692000													9	56					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8131841	8131841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8131841G>A	ENST00000315684.8	-	22	3501	c.3494C>T	c.(3493-3495)cCg>cTg	p.P1165L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1165					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GATCTTCGACGGTTTCCTTTC	0.527000													17	348					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117528036	117528036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117528036C>T	ENST00000254029.3	+	5	1240	c.845C>T	c.(844-846)aCg>aTg	p.T282M	WDR44_ENST00000371825.3_Missense_Mutation_p.T282M|WDR44_ENST00000371822.5_Missense_Mutation_p.T257M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	282						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAATATTACGTCTGATTCT	0.383000													6	78					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119693958	119693958	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119693958A>G	ENST00000371322.5	-	1	597	c.536T>C	c.(535-537)tTa>tCa	p.L179S	CUL4B_ENST00000404115.3_Missense_Mutation_p.L197S|CUL4B_ENST00000336592.6_Missense_Mutation_p.L184S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	197	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGATCACTAACTTCTTAGC	0.423000													41	84					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56661162	56661162	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56661162T>G	ENST00000431842.2	-	14	3655	c.2731A>C	c.(2731-2733)Aat>Cat	p.N911H	FAM208A_ENST00000493960.2_Missense_Mutation_p.N1348H|FAM208A_ENST00000355628.5_Missense_Mutation_p.N1287H	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1348										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTCAAAAAATTTTTAAGGTTC	0.299000													12	40					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323636	2323636	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323636G>A	ENST00000263092.5	-	10	1444	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Silent_p.G221G	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	439							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CGGCAGCCTCGCCTTCCCGCA	0.642000													37	63					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71776489	71776489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71776489C>T	ENST00000258104.3	+	17	1767	c.1490C>T	c.(1489-1491)gCa>gTa	p.A497V	DYSF_ENST00000413539.2_Missense_Mutation_p.A528V|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000394120.2_Missense_Mutation_p.A498V|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000409651.1_Missense_Mutation_p.A529V|DYSF_ENST00000409366.1_Missense_Mutation_p.A498V|DYSF_ENST00000429174.2_Missense_Mutation_p.A497V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	497						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGAGCCTGCAGGTGCTGTC	0.577000													5	7					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767837	205767837	+	Silent	SNP	C	C	T	rs143860467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205767837C>T	ENST00000367137.3	-	6	1818	c.804G>A	c.(802-804)gcG>gcA	p.A268A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	268						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGAGAGCAGCGCCAAGGTGA	0.567000													26	52					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140202078	140202078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140202078G>A	ENST00000529859.1	+	1	718	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E240K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E240K|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCCCAGAATTTGATAA	0.388000													39	50					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36134931	36134931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36134931C>T	ENST00000303965.4	-	20	3833	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1115					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGCATTACCATCTGTACC	0.378000													23	43					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3282219	3282219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3282219C>T	ENST00000541430.2	+	7	882	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CELF5_ENST00000292672.2_Silent_p.A282A	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	282					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATAGGCGCCGTCAGCCTCA	0.647000													22	30					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161375	81161375	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81161375C>A	ENST00000525539.1	-	0	6339				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTGACGTGCTTTGGCGATC	0.517000													3	28					0.115264	0.117355	1	1	0
LIN54	132660	broad.mit.edu	37	4	83891528	83891528	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83891528T>C	ENST00000340417.3	-	4	1280	c.903A>G	c.(901-903)acA>acG	p.T301T	LIN54_ENST00000446851.2_Silent_p.T80T|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T80T|LIN54_ENST00000505397.1_Silent_p.T301T|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.T80T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	301					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGGTGTCTGTGTTGTAGAAT	0.353000													6	158					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53679163	53679163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53679163G>A	ENST00000371486.3	+	5	2388	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	625					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGGCTGCAATGTCTCTTCCTA	0.517000													33	56					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256522	34256522	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256522G>C	ENST00000379166.2	-	11	3202	c.3083C>G	c.(3082-3084)gCt>gGt	p.A1028G	KIF24_ENST00000379174.3_Missense_Mutation_p.A894G|KIF24_ENST00000345050.2_Missense_Mutation_p.A894G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1028G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1028					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTGGGACAGCATGACCGTT	0.562000													6	94					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182641	133182641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133182641C>T	ENST00000388996.4	-	8	1595	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R392K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R272K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	392					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGTCAATCCTGTTGGGGTT	0.532000													24	40					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613389	72613389	+	Missense_Mutation	SNP	C	C	T	rs144682080	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72613389C>T	ENST00000392619.1	-	2	372	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CD300E_ENST00000426295.2_Missense_Mutation_p.A127T|CD300E_ENST00000328630.3_Missense_Mutation_p.A86T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	86	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAGTGAAGGCGAGAGCCTCC	0.532000													19	53					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079847	29079847	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079847A>T	ENST00000377169.1	+	1	180	c.180A>T	c.(178-180)acA>acT	p.T60T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCTGCACACACCAATGTACT	0.453000													10	233					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319198	55319198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319198C>T	ENST00000371269.3	-	8	1404	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	DHCR24_ENST00000535035.1_Missense_Mutation_p.D395N|DHCR24_ENST00000537443.1_Missense_Mutation_p.D220N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	436					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTCCAATGTCGATGTAGAGC	0.582000													14	14					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657374	49657374	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49657374A>G	ENST00000252825.4	-	1	1307	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	HRC_ENST00000595625.1_Missense_Mutation_p.V374A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	374					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATCTACAAGGCCATG	0.542000													25	57					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043158	119043158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043158G>A	ENST00000334464.5	-	5	3325	c.3086C>T	c.(3085-3087)aCa>aTa	p.T1029I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1029					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTTTCCTCTGTAGGCAAGCC	0.398000													14	169					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387918	119387918	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119387918G>T	ENST00000326624.2	+	2	876	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.Q216H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	216					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTGGCACAGGTCCAATCTA	0.438000													27	53					2.49675e-24	3.31153e-24	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66248680	66248680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66248680C>T	ENST00000380828.2	+	6	639	c.485C>T	c.(484-486)gCt>gTt	p.A162V	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.A122V|KCTD7_ENST00000510829.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.A135V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.A136V			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAAGCAAAAGCTCCCAGTCCT	0.388000													35	24					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710107	37710107	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710107C>A	ENST00000400485.1	+	4	399	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	108					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTCGGGTTCTATGCGTCTG	0.423000													28	60					2.12542e-12	2.67336e-12	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840091	1840091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840091G>A	ENST00000331238.5	-	2	1043	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	342					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGGCCGTGCGGGTGGCCCTT	0.692000													12	10					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738638	12738638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738638C>A	ENST00000343325.4	+	4	457	c.295C>A	c.(295-297)Cca>Aca	p.P99T	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P67T|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGGAGTAAAACCATATGAGTG	0.453000													46	93					8.20599e-20	1.07503e-19	1	1	0
CDC27	996	broad.mit.edu	37	17	45232100	45232100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45232100G>A	ENST00000066544.3	-	8	988	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q238*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTAGTTTTGTAAATAGGAT	0.388000													11	15					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842605	52842605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52842605G>A	ENST00000449956.2	+	22	2587	c.2581G>A	c.(2581-2583)Ggc>Agc	p.G861S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G669S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	861					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCCAGCATCGGCACGAAGGT	0.532000													3	38					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46603893	46603893	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46603893G>A	ENST00000263734.3	+	9	1759		c.e9+1			NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGATTTCGGTGGGTGCTTC	0.562000													32	51					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262742	128262742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262742C>T	ENST00000295321.4	-	3	996	c.737G>A	c.(736-738)cGt>cAt	p.R246H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.R253H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCACTGATACGAGGTTTGGG	0.517000													79	101					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191363	8191363	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191363C>T	ENST00000600128.1	-	20	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	FBN3_ENST00000270509.2_Missense_Mutation_p.R848H|FBN3_ENST00000601739.1_Missense_Mutation_p.R848H			Q75N90	FBN3_HUMAN	fibrillin 3	848	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTCGCAGCGTTCGCAGGG	0.647000													5	12					0	0	1	0	0
VCX3B	0	broad.mit.edu	37	X	8433557	8433557	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:8433557C>A	ENST00000381032.1	+	2	373	c.66C>A	c.(64-66)tcC>tcA	p.S22S	VCX3B_ENST00000444481.1_Silent_p.S22S|VCX3B_ENST00000381029.4_Silent_p.S22S|VCX3B_ENST00000440654.2_Silent_p.S22S|VCX3B_ENST00000453306.1_Silent_p.S22S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	22						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGGAAGTCCTCCTCTCAGC	0.607000													14	118					9.16793e-09	1.10245e-08	1	1	0
DECR2	26063	broad.mit.edu	37	16	461021	461021	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:461021C>T	ENST00000219481.5	+	7	744	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Silent_p.R190R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	202						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AAAACATCCGCGTCAACAGCC	0.642000													3	5					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586624	33586624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33586624C>T	ENST00000262873.7	+	33	4314	c.4222C>T	c.(4222-4224)Cgg>Tgg	p.R1408W		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1366						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAGCTGCAGCGGCTGCTGTC	0.657000													3	9					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965153	58965153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58965153G>A	ENST00000336614.4	+	2	192	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.V29M	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTACCGCCACGTGATGCTGGA	0.562000													15	29					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170036	32170036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32170036C>T	ENST00000375023.3	-	21	3710	c.3572G>A	c.(3571-3573)tGc>tAc	p.C1191Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1191					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGCCACTGCAGCCAGCATC	0.662000													13	20					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907867	103907867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103907867G>A	ENST00000302259.3	+	1	560	c.317G>A	c.(316-318)aGc>aAc	p.S106N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	106					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGACGTCCAGCTCCCGTCCA	0.652000													10	97					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205779	160205779	+	Missense_Mutation	SNP	C	C	A	rs34745357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160205779C>A	ENST00000392783.2	-	29	5371	c.4876G>T	c.(4876-4878)Gta>Tta	p.V1626L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.V1590L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V1526L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V1592L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCATAGATACTCCACCTTTC	0.343000													4	65					0.150653	0.152692	1	1	0
CSTF3	1479	broad.mit.edu	37	11	33118430	33118430	+	Missense_Mutation	SNP	C	C	T	rs11553357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33118430C>T	ENST00000323959.4	-	14	1362	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GACATGGTGGCGGGTTCTGGT	0.363000													33	77					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52818536	52818536	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52818536A>G	ENST00000252245.5	-	9	1641	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	474	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGAGGTGACCACAGCTGCCGG	0.617000													20	30					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57969503	57969503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57969503C>T	ENST00000455537.2	+	17	2260	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	KIF5A_ENST00000286452.5_Silent_p.D573D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	662					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGTCCTATGACTCCTTGAGCG	0.532000													70	132					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65305303	65305303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65305303C>A	ENST00000342505.4	-	20	3073	c.2825G>T	c.(2824-2826)gGa>gTa	p.G942V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	942	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTGCAGATTCCTTTGTACTT	0.453000			Mis		ALL								6	142					3.59834e-05	4.01776e-05	1	1	0
ING4	51147	broad.mit.edu	37	12	6761527	6761527	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6761527C>T	ENST00000341550.4	-	6	601	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ING4_ENST00000396807.4_Silent_p.V186V|ING4_ENST00000446105.2_Silent_p.V182V|ING4_ENST00000444704.2_Silent_p.V162V|ING4_ENST00000423703.2_Intron|ING4_ENST00000412586.2_Silent_p.V183V|ING4_ENST00000486287.1_Intron			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	186					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCATATCCAACACATCAGAGG	0.507000													5	88					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56969209	56969209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56969209G>T	ENST00000439977.2	+	2	407	c.210G>T	c.(208-210)agG>agT	p.R70S	HERPUD1_ENST00000379792.2_Missense_Mutation_p.R70S|HERPUD1_ENST00000344114.4_Missense_Mutation_p.R70S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R70S|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	70	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATGTCTCAGGGACTTGCTTC	0.413000			T	ERG	prostate								8	77					1.06961e-07	1.26574e-07	1	1	0
CD300A	11314	broad.mit.edu	37	17	72470740	72470740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72470740C>A	ENST00000360141.3	+	3	737	c.449C>A	c.(448-450)cCt>cAt	p.P150H	CD300A_ENST00000392625.3_Missense_Mutation_p.P37H|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Missense_Mutation_p.P20H|CD300A_ENST00000310828.5_Missense_Mutation_p.P37H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	150					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCATTTCCACCTGTATCATCC	0.537000													6	50					0.00116845	0.00124821	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80707353	80707353	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80707353A>G	ENST00000458043.2	+	30	3527	c.3521A>G	c.(3520-3522)tAt>tGt	p.Y1174C	OTOGL_ENST00000547103.1_Missense_Mutation_p.Y1174C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATAGCTGCATATGCATACAAG	0.373000													6	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179476842G>A	ENST00000589042.1	-	267	50520	c.50296C>T	c.(50296-50298)Cga>Tga	p.R16766*	TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15125	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403000													8	10					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285612	130285612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130285612C>T	ENST00000358511.6	+	4	1380	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T450I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	450	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCAGGCCACAGATTTCCAT	0.493000													12	51					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113607481	113607481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113607481G>A	ENST00000200135.3	-	15	2224	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	694					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATACTTGGGGTCCTTCATCC	0.373000													57	123					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102966	168102966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168102966C>T	ENST00000409195.1	+	9	5153	c.5064C>T	c.(5062-5064)aaC>aaT	p.N1688N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.N1466N|XIRP2_ENST00000295237.9_Silent_p.N1688N|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					actin cytoskeleton organization	cell junction	actin binding	p.N1688K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATATTAACATGACTATCT	0.338000													6	71					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10413736	10413736	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10413736C>A	ENST00000397077.1	-	11	1857		c.e11-1		ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site|ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000352432.4_Splice_Site			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCATCATTTTCTGGGAGAAGG	0.572000													4	65					0.014758	0.0152625	1	1	0
ZNF547	284306	broad.mit.edu	37	19	57888885	57888885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888885G>T	ENST00000282282.3	+	4	691	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAAAGAACTTA	0.428000													18	33					3.32936e-07	3.90007e-07	1	1	0
FLCN	201163	broad.mit.edu	37	17	17124701	17124701	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17124701A>G	ENST00000389169.5	-	8	1475	c.1021T>C	c.(1021-1023)Tcg>Ccg	p.S341P	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000285071.4_Intron	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						aatcacaCCGAGATCGGAGGG	0.547000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	10					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69646847	69646847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69646847C>T	ENST00000453994.2	+	8	1049	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.R230*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.R151*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	230	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGTGGGACACCGAGGGGCCCC	0.612000													18	23					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140712546	140712546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140712546G>A	ENST00000460843.1	+	25	3523	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1166	Interaction with histone H3.|SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAAGCCGACGTTCGAGA	0.527000													30	48					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398611	75398611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75398611G>A	ENST00000329047.8	+	2	1305	c.493G>A	c.(493-495)Gca>Aca	p.A165T	SEPT9_ENST00000591198.1_Missense_Mutation_p.A164T|SEPT9_ENST00000423034.2_Missense_Mutation_p.A176T|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.A183T|SEPT9_ENST00000590294.1_Missense_Mutation_p.A165T|SEPT9_ENST00000449803.2_Missense_Mutation_p.A19T|SEPT9_ENST00000431235.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427674.2_Missense_Mutation_p.A19T|SEPT9_ENST00000588690.1_Missense_Mutation_p.A19T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	183					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCACCGACGCAGCCCCCAA	0.677000													5	3					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53819521	53819521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53819521G>T	ENST00000257863.4	+	6	750	c.670G>T	c.(670-672)Gga>Tga	p.G224*	AMHR2_ENST00000550311.1_Nonsense_Mutation_p.G224*|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.G224*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	224	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCAGCTGCAAGGAAAACTGGT	0.577000													11	15					0.000978159	0.00105116	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69682430	69682430	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69682430G>T	ENST00000265403.7	+	1	720	c.693G>T	c.(691-693)tgG>tgT	p.W231C	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	231					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGAAGTGGGATCAGTTTT	0.303000													13	28					7.93312e-07	9.21973e-07	1	1	0
SLC25A3	5250	broad.mit.edu	37	12	98991750	98991750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98991750G>T	ENST00000188376.5	+	3	750	c.396G>T	c.(394-396)caG>caT	p.Q132H	SLC25A3_ENST00000547534.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000401722.3_Missense_Mutation_p.Q132H|SLC25A3_ENST00000551917.1_Missense_Mutation_p.Q133H|SLC25A3_ENST00000228318.3_Missense_Mutation_p.Q133H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.Q132H	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	133					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTCCATGCAGGGACTCTGCA	0.403000													4	72					0.150653	0.152692	1	1	0
ABCC5	10057	broad.mit.edu	37	3	183699552	183699552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183699552C>T	ENST00000334444.6	-	8	1350	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.M370I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	370	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCAGGCATACATTTTGATAA	0.398000													4	87					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503722	90503722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90503722G>T	ENST00000325643.5	+	4	4386	c.4320G>T	c.(4318-4320)caG>caT	p.Q1440H		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGTCTGCACAGAGGTGTCTTG	0.567000													8	22					0.0381472	0.0390147	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021550	5021550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5021550G>A	ENST00000382545.3	+	2	2113	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTCTTCATCGGGGTCATCCT	0.552000													39	61					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23385652	23385652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23385652G>A	ENST00000400181.4	+	9	1263	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	KDM1A_ENST00000542151.1_Missense_Mutation_p.G387R|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.G367R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	367	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAAGCCAACGGACAAGCTGT	0.383000													6	35					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16664712	16664712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16664712G>A	ENST00000595753.1	-	6	1028	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	337					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGTTTGCATCGTACTTGGTCT	0.577000													9	30					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102842450	102842450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102842450G>A	ENST00000264257.2	+	9	1210	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.D362N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.D244N|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	362					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTTTAAGATCGACATTGTTCT	0.408000													25	48					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575639	17575639	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17575639C>A	ENST00000375460.3	+	1	47	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	3					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCATGTCGCTGCAGAGAAT	0.612000													10	57					0.0581538	0.0593651	1	1	0
FAM53B	9679	broad.mit.edu	37	10	126370557	126370557	+	Silent	SNP	G	G	A	rs139649397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126370557G>A	ENST00000337318.3	-	4	736	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM53B_ENST00000392754.3_Silent_p.N175N|FAM53B_ENST00000280780.6_Silent_p.N175N|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	175										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGAGAGCACGTTGGCCCGGG	0.647000													7	41					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250550	1250550	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1250550C>T	ENST00000348261.5	+	7	1346	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CACNA1H_ENST00000565831.1_Silent_p.Y366Y|CACNA1H_ENST00000358590.4_Silent_p.Y366Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	366					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACATCGGCTACGCCTGGATTG	0.647000													19	11					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771272	37771272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37771272G>A	ENST00000402918.1	-	3	1088	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ELFN2_ENST00000349653.3_Silent_p.G101G|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	101						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCTCGACTGGCCCAGGAAGG	0.602000													5	32					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905840	83905840	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905840G>T	ENST00000340417.3	-	2	535	c.158C>A	c.(157-159)aCt>aAt	p.T53N	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T53N|LIN54_ENST00000506560.1_Missense_Mutation_p.T53N|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.T53N|LIN54_ENST00000395283.2_Missense_Mutation_p.T53N|LIN54_ENST00000510557.1_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	53					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGAGTCACCAGTAGAATTTAT	0.408000													39	44					2.19358e-23	2.90382e-23	1	1	0
VTI1A	143187	broad.mit.edu	37	10	114575091	114575091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114575091C>T	ENST00000393077.2	+	8	719	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TAGGGATCATCGTGGTCATCA	0.458000			T	TCF7L2	colorectal								13	43					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127548312	127548312	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127548312C>A	ENST00000284690.3	-	3	1199	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	DHX32_ENST00000284688.6_Missense_Mutation_p.V237L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	237	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTTTTCACTTCTATGACA	0.398000													8	124					2.52707e-12	3.17576e-12	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128381746	128381746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128381746G>A	ENST00000389524.4	+	29	3873	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E1274K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1274K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E127K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1274	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAGGGGCGAGAGCCAGCG	0.642000													4	1					0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113650928	113650928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113650928C>A	ENST00000453129.2	+	1	460	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	137						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCAGTCTCCTGGGTGG	0.567000													28	32					5.45727e-16	7.024e-16	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156727724	156727724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156727724G>A	ENST00000347377.6	+	6	820	c.387_splice	c.e6-1	p.R130_splice	CYFIP2_ENST00000541131.1_Splice_Site_p.R55_splice|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Splice_Site_p.R104_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.R130_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.R130_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	130					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCCAGCGCAAGGCCATC	0.642000													5	5					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964601	94964601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964601G>A	ENST00000341228.2	-	3	929	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A45V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	45					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGCTCCTTGGCTGCCATCCT	0.502000													58	108					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223160331	223160331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223160331T>C	ENST00000350526.4	-	3	503	c.367A>G	c.(367-369)Aga>Gga	p.R123G	PAX3_ENST00000336840.6_Missense_Mutation_p.R123G|PAX3_ENST00000409828.3_Missense_Mutation_p.R123G|PAX3_ENST00000392070.2_Missense_Mutation_p.R123G|PAX3_ENST00000258387.5_Missense_Mutation_p.R123G|PAX3_ENST00000344493.4_Missense_Mutation_p.R123G|PAX3_ENST00000409551.3_Missense_Mutation_p.R122G|PAX3_ENST00000392069.2_Missense_Mutation_p.R123G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTTCTCTCTTTTGTATTCC	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						19	41					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504852	151504852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504852C>T	ENST00000317605.4	+	1	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	224					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637000													24	24					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264291	67264291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67264291G>A	ENST00000258201.4	-	19	3224	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	FHOD1_ENST00000567687.1_Nonsense_Mutation_p.R572*	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	993	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.R993R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTAGCACTCGTTCCCGGCAA	0.612000													22	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067202	9067202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067202C>A	ENST00000397910.4	-	3	20447	c.20244G>T	c.(20242-20244)caG>caT	p.Q6748H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6750	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAATGTGCCCTGTGATGTAG	0.493000													22	238					6.44725e-10	7.89499e-10	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25835087	25835087	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25835087A>G	ENST00000399878.3	-	4	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	SEL1L3_ENST00000502949.1_Missense_Mutation_p.V169A|SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V287A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	322						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGTAAGAAATACAGAAGGTGT	0.373000													12	19					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065073	23065073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065073A>G	ENST00000246006.4	-	1	1904	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	586					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGCCTAGGATGTAGAATAA	0.597000													29	103					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475209	17475209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475209G>T	ENST00000377873.3	-	8	1547	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S378Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	503	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATAAAGCACAGAGTCTTCCGC	0.547000													14	17					6.31663e-08	7.49729e-08	1	1	0
ACACA	31	broad.mit.edu	37	17	35563703	35563703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35563703C>A	ENST00000353139.5	-	32	4423	c.3942G>T	c.(3940-3942)gaG>gaT	p.E1314D	ACACA_ENST00000335166.5_Missense_Mutation_p.E1199D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1219D|ACACA_ENST00000394406.2_Missense_Mutation_p.E1277D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1277					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTATCCTCATCATAAA	0.438000													5	44					0.184627	0.186383	1	1	0
TRMT61A	115708	broad.mit.edu	37	14	103996558	103996558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103996558G>A	ENST00000389749.4	+	2	350	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	81						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAACCTGCCGCACCGCACGC	0.632000													29	56					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417281	56417281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56417281C>T	ENST00000370754.5	-	61	16215	c.16216G>A	c.(16216-16218)Gca>Aca	p.A5406T	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A5228T|DST_ENST00000421834.2_Missense_Mutation_p.A3140T|DST_ENST00000370788.2_Missense_Mutation_p.A3140T|DST_ENST00000244364.6_Missense_Mutation_p.A2814T|DST_ENST00000361203.3_Missense_Mutation_p.A5226T|DST_ENST00000446842.2_Missense_Mutation_p.A4902T			Q03001	DYST_HUMAN	dystonin	5226					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGCTTGCCATGAGGGCT	0.433000													20	26					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666974	116666974	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116666974C>T	ENST00000369500.3	+	4	742	c.477C>T	c.(475-477)ctC>ctT	p.L159L	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	159										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCTGTCACCTCTCAGGTGAGC	0.502000													19	30					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3111146	3111146	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3111146G>A	ENST00000259808.4	+	10	1984	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RIPK1_ENST00000380409.2_Silent_p.T562T|RIPK1_ENST00000541791.1_Silent_p.T516T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	562	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACAAATACGAACTTCAAAG	0.408000													37	62					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014932	75014932	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75014932G>A	ENST00000379727.3	-	2	705	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CYP1A1_ENST00000395049.4_Silent_p.V169V|CYP1A1_ENST00000395048.2_Silent_p.V169V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V169V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	169					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGCTTATCAGGACCTCAGCCT	0.547000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				37	70					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6014625	6014625	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6014625T>C	ENST00000259569.5	-	1	993	c.983A>G	c.(982-984)gAc>gGc	p.D328G	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	328					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTACCCAGTCCTCATCATC	0.418000													5	64					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453982	226453982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226453982G>A	ENST00000328205.5	-	9	1461	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	LIN9_ENST00000366801.1_Missense_Mutation_p.R255W|LIN9_ENST00000481685.1_Missense_Mutation_p.R271W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	290					cell cycle|DNA replication	nucleoplasm		p.R306W(4)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGAGAAGGCCGCTGTTTTTGT	0.338000													17	15					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53496517	53496517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53496517G>A	ENST00000262133.6	+	11	1647	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E288K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	504	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAGTATTAGAATCTGTTAT	0.323000													23	33					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109926386	109926386	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109926386C>A	ENST00000342494.3	+	7	1052	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	UBE3B_ENST00000537063.1_Missense_Mutation_p.L153M|UBE3B_ENST00000540230.1_Missense_Mutation_p.L153M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L153M|UBE3B_ENST00000340074.5_Missense_Mutation_p.L153M|UBE3B_ENST00000536398.1_Missense_Mutation_p.L153M|UBE3B_ENST00000434735.2_Missense_Mutation_p.L153M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGAAATCCTGCAGGACTC	0.468000													9	372					0.0581538	0.0593651	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46563858	46563858	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46563858G>T	ENST00000458649.2	-	7	2127	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	AMBRA1_ENST00000534300.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A480D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A570D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A480D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	570					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATTGTGGCAAGCACGACAGCG	0.572000													4	86					4.096e-09	4.95403e-09	1	1	0
FIGNL1	63979	broad.mit.edu	37	7	50513423	50513423	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50513423T>G	ENST00000419119.1	-	2	3116	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	FIGNL1_ENST00000433017.1_Missense_Mutation_p.K521N|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K521N|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K521N			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	521					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAATTCTGTTTTTATCCTTC	0.403000													101	60					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96784097	96784097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96784097C>A	ENST00000359933.4	-	19	3868	c.2975G>T	c.(2974-2976)aGt>aTt	p.S992I		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	992										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGAGCTGACTGGCTACTGA	0.348000													38	64					1.30998e-17	1.70068e-17	1	1	0
TRAPPC4	51399	broad.mit.edu	37	11	118889933	118889933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889933C>A	ENST00000533632.1	+	2	620	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	TRAPPC4_ENST00000533058.1_Missense_Mutation_p.L86M|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.L86M|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000525303.1_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	86					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCTGGAGTATCTGGGTAACCC	0.552000													21	29					8.10497e-08	9.61437e-08	1	1	0
OR1J2	26740	broad.mit.edu	37	9	125273822	125273822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125273822G>A	ENST00000335302.5	+	1	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCTGTGGTGTCTCTCTA	0.488000													52	95					0	0	1	0	0
SGK223	0	broad.mit.edu	37	8	8175940	8175940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8175940G>A	ENST00000520004.1	-	6	4209	c.3945C>T	c.(3943-3945)ggC>ggT	p.G1315G	SGK223_ENST00000330777.4_Silent_p.G1315G			Q86YV5	SG223_HUMAN		1315	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTTGGCCTCGCCGATGCGGA	0.711000													23	29					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39422740	39422740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39422740G>A	ENST00000280481.7	+	8	6528	c.6312G>A	c.(6310-6312)atG>atA	p.M2104I	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2104					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTCGCATGCCTATGAACG	0.463000													22	29					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058262	42058262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058262G>A	ENST00000219905.7	+	24	8163	c.7982G>A	c.(7981-7983)gGa>gAa	p.G2661E	MGA_ENST00000389936.4_Missense_Mutation_p.G2622E|MGA_ENST00000566586.1_Missense_Mutation_p.G2452E|MGA_ENST00000570161.1_Missense_Mutation_p.G2661E|MGA_ENST00000545763.1_Missense_Mutation_p.G2452E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2622						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCCACAGAGGGAGGTTTGGTA	0.368000													30	53					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190124	43190124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43190124C>T	ENST00000252050.4	+	36	7001	c.6917C>T	c.(6916-6918)gCg>gTg	p.A2306V	CUL9_ENST00000372647.2_Missense_Mutation_p.A2278V|CUL9_ENST00000354495.3_Missense_Mutation_p.A2196V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2306					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATCACCAGGCGCGGGTGAGT	0.602000													18	31					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068626	103068626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068626G>A	ENST00000264260.2	+	12	2374	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	IL18RAP_ENST00000409369.1_Silent_p.Q453Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	595					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAGCTCCCAGCCTAAGGAAT	0.507000													30	65					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40717044	40717044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40717044C>T	ENST00000393818.2	+	5	1737	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	COASY_ENST00000420359.1_Silent_p.G427G|COASY_ENST00000449624.1_Silent_p.G132G|COASY_ENST00000590958.1_Silent_p.G456G|COASY_ENST00000421097.2_Silent_p.G427G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	427	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGTCCTAGGCAGCCGGGTGT	0.532000													8	80					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77809109	77809109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77809109G>A	ENST00000269397.4	-	5	509	c.332C>T	c.(331-333)gCg>gTg	p.A111V	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	111	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCCCCTGCGCGCCCAAATC	0.657000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	30					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347739	91347739	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347739A>G	ENST00000358859.2	-	1	1214	c.781T>C	c.(781-783)Ttc>Ctc	p.F261L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TTGGGACTGAATGCTAGAGAG	0.552000													56	384					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154318427	154318427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154318427G>A	ENST00000240488.3	+	6	497	c.408G>A	c.(406-408)caG>caA	p.Q136Q	MND1_ENST00000504860.1_Silent_p.Q121Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	136					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAGGGAACAGCTAAAGGCAG	0.373000													10	7					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764135	18764135	+	Splice_Site	SNP	G	G	A	rs148193506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18764135G>A	ENST00000304081.4	-	6	1120	c.1021_splice	c.e6+1	p.Y340_splice	NT5C1B_ENST00000600945.1_Splice_Site_p.Y400_splice|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.Y400_splice|NT5C1B_ENST00000359846.2_Splice_Site_p.Y400_splice	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTACTTACCGTAGTGATTGA	0.408000													5	48					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983639	7983639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7983639A>G	ENST00000319144.4	-	6	928	c.668T>C	c.(667-669)gTc>gCc	p.V223A	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D107G	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	223	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCGCGGACTTTGAAAGC	0.592000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	59					0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30103033	30103033	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30103033G>T	ENST00000585603.1	+	5	2674	c.372G>T	c.(370-372)caG>caT	p.Q124H	POP4_ENST00000392279.3_Missense_Mutation_p.Q43H|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_5'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	124					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GGCAGCCACAGATGATTCAGG	0.458000													4	67					0.00909568	0.00947522	1	1	0
NRP1	8829	broad.mit.edu	37	10	33481304	33481304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33481304G>T	ENST00000265371.4	-	14	2492	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	NRP1_ENST00000374867.2_Missense_Mutation_p.S656Y|NRP1_ENST00000395995.1_Missense_Mutation_p.S656Y			O14786	NRP1_HUMAN	neuropilin 1	656	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453000													108	214					2.11273e-47	2.85583e-47	1	1	0
ICAM4	3386	broad.mit.edu	37	19	10398513	10398513	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10398513C>T	ENST00000380770.3	+	2	742	c.697_splice	c.e2+1	p.L232_splice	ICAM4_ENST00000393717.2_Silent_p.L232L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Splice_Site_p.R207_splice	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	232					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACTGATGCTCGGTGAGGCAC	0.652000													47	58					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330384	128330384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:128330384G>T	ENST00000368227.3	-	14	2590	c.2224C>A	c.(2224-2226)Cca>Aca	p.P742T	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.P742T|PTPRK_ENST00000368215.3_Missense_Mutation_p.P741T|PTPRK_ENST00000368213.5_Missense_Mutation_p.P742T|PTPRK_ENST00000532331.1_Missense_Mutation_p.P742T|PTPRK_ENST00000368207.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368210.3_Missense_Mutation_p.P742T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	741					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCGGGATCTGGGATCACTTCT	0.373000													7	97					0.00448238	0.00472561	1	1	0
TMEM38A	79041	broad.mit.edu	37	19	16797199	16797199	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16797199T>G	ENST00000187762.2	+	5	746	c.655T>G	c.(655-657)Ttc>Gtc	p.F219V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	219						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTTCACCTTGTTCATGGTGTC	0.557000													3	45					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220246296	220246296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220246296G>T	ENST00000469520.2	-	5	678	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	BPNT1_ENST00000544404.1_Missense_Mutation_p.L22M|BPNT1_ENST00000354807.3_Missense_Mutation_p.L77M|BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L77M			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGAAGGCAGATCCTAAAGC	0.413000													10	116					1.76689e-08	2.11513e-08	1	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290699G>A	ENST00000337137.4	+	7	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208H|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239H	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	286	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502000													27	45					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	427115	427115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:427115G>A	ENST00000431232.2	-	4	717	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TMEM8A_ENST00000250930.3_De_novo_Start_InFrame|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	186					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACCACCCGCGTGACCAGCAG	0.637000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	34					0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55478845	55478845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55478845C>T	ENST00000342972.1	+	1	308	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	13	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCCGTAATGCGAGAGCCGCA	0.597000													4	4					0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43698240	43698240	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43698240A>G	ENST00000282058.6	+	3	379	c.299A>G	c.(298-300)gAc>gGc	p.D100G	HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	100					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTTTGGTTGACAGTGCGGTG	0.423000													49	60					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496313	7496313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496313G>T	ENST00000250113.7	-	13	1851	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	506						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGAGCTAATAGATGAAGAATT	0.597000													22	29					3.7963e-18	4.94062e-18	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691517	53691517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53691517G>T	ENST00000262135.4	-	13	1522	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.L477I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	477					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAAAGGAAAGGTCTCCATTT	0.313000													16	31					1.02788e-11	1.28409e-11	1	1	0
HRH2	0	broad.mit.edu	37	5	175111286	175111286	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175111286C>T	ENST00000231683.2	+	1	2823	c.1050C>T	c.(1048-1050)gtC>gtT	p.V350V	HRH2_ENST00000377291.2_Silent_p.V350V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	350					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGACAGAAGTCACGGCCCCCC	0.582000													37	62					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710490	17710490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17710490G>T	ENST00000380060.3	+	3	1092	c.754G>T	c.(754-756)Gca>Tca	p.A252S	NHS_ENST00000398097.3_Missense_Mutation_p.A75S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	252						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAAAGAGCAGCTGCCCC	0.517000													43	53					1.5731e-28	2.10252e-28	1	1	0
ELP5	23587	broad.mit.edu	37	17	7162168	7162168	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7162168C>A	ENST00000396628.2	+	7	976	c.759C>A	c.(757-759)acC>acA	p.T253T	ELP5_ENST00000354429.2_Silent_p.T253T|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.T253T|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000356683.2_3'UTR	NM_203414.1	NP_981959.1			elongator acetyltransferase complex subunit 5																		CTCATTTGACCTTTAACCTTC	0.512000													19	33					1.01871e-10	1.25892e-10	1	1	0
ZIC5	85416	broad.mit.edu	37	13	100617767	100617767	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617767T>C	ENST00000267294.4	-	2	2089	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	619					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATTGAGGTTGGTCACCTG	0.602000													7	65					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41936259	41936259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41936259C>T	ENST00000379406.3	+	13	1827	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	NAA16_ENST00000379367.3_Silent_p.Y501Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	501					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGGGGAGATACGGGGATGCCT	0.388000													14	53					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669662	119669662	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119669662G>A	ENST00000368468.3	-	2	1010	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MAN1A1_ENST00000368466.2_Missense_Mutation_p.A190V	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	190					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCGGATGGCGGCGTCGGCGGG	0.662000													13	16					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877651	150877651	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150877651G>A	ENST00000474524.1	+	7	908	c.870G>A	c.(868-870)ctG>ctA	p.L290L	MED12L_ENST00000309237.4_Silent_p.L290L|MED12L_ENST00000422248.2_Silent_p.L290L|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	290					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCTACCTGTCTCGTCGTC	0.483000													90	114					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997236	66997236	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66997236C>T	ENST00000303334.4	+	2	308	c.237C>T	c.(235-237)caC>caT	p.H79H	CES3_ENST00000394037.1_Silent_p.H79H	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	79						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGCCCCACACCCAGCACAGC	0.642000													6	70					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80672872	80672872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80672872G>A	ENST00000458043.2	+	25	2833	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	OTOGL_ENST00000547103.1_Missense_Mutation_p.G943R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAATATACGGGGACCGACA	0.348000													68	76					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195487873	195487873	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195487873G>T	ENST00000463781.3	-	16	15189	c.14730C>A	c.(14728-14730)atC>atA	p.I4910I	MUC4_ENST00000349607.4_Silent_p.I623I|MUC4_ENST00000475231.1_Silent_p.I4858I|MUC4_ENST00000346145.4_Silent_p.I674I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1667					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGTTGGAGATCAAATGTT	0.512000													30	57					4.15321e-07	4.86422e-07	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29994972	29994972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29994972G>A	ENST00000308893.4	+	13	2452	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R470Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R470Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R297Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCACCATCCGAACCGCCTCC	0.587000													91	98					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647000													40	53					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89816211	89816211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89816211G>A	ENST00000389301.3	-	32	3196	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F	FANCA_ENST00000568369.1_Missense_Mutation_p.L1056F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1056					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGCCTGGAGCCGTCTGCGG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	40					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117021	117021	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117021G>A	ENST00000382500.2	-	1	1396	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	367					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTGATGCCGCTGCTGTTGC	0.687000													32	141					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69184788G>A	ENST00000563094.1	+	8	1017	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R328Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R328Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537000													49	69					0	0	1	0	0
OR1K1	0	broad.mit.edu	37	9	125563230	125563230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125563230G>A	ENST00000277309.2	+	1	861	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTGGCCACTGTCATGTACAC	0.592000													40	44					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472889	84472889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84472889G>A	ENST00000416219.2	+	12	1193	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.E368E			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	368					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCATCGTGGAGACTTTAGGTG	0.572000													28	32					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126676323	126676323	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126676323G>A	ENST00000274473.6	+	5	586		c.e5+1		MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTGTGTCCGTAAGTAAGAC	0.488000													22	36					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577212	71577212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71577212G>T	ENST00000409544.1	+	2	1758	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q376H|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q376H|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q376H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	376					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCAGTCACAGGCTGACATTC	0.443000													8	115					1.12685e-05	1.27857e-05	1	1	0
PRSS3	5646	broad.mit.edu	37	9	33797979	33797979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33797979T>C	ENST00000361005.5	+	3	524	c.524T>C	c.(523-525)gTc>gCc	p.V175A	PRSS3_ENST00000429677.3_Missense_Mutation_p.V111A|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118A|PRSS3_ENST00000342836.4_Missense_Mutation_p.V132A|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	175	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCACCTGCCGTCATCAATGCC	0.562000													21	33					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840080	70840080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70840080G>T	ENST00000322773.4	+	18	1450	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	COL19A1_ENST00000393344.1_Missense_Mutation_p.D72Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	450	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTAGGGAAATGATGAACATGA	0.378000													9	19					0.00136819	0.00146042	1	1	0
GTPBP2	54676	broad.mit.edu	37	6	43589883	43589883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589883C>T	ENST00000307126.5	-	11	1488	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	GTPBP2_ENST00000307114.7_Missense_Mutation_p.E409K|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	497							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGATTCATCTCCGGGCTCACC	0.582000													17	21					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131704018	131704018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131704018G>A	ENST00000308941.5	+	12	1300	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000372592.3_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AGGAGCCCTCGCCCCTCCCGG	0.597000													7	16					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154528182	154528182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154528182G>T	ENST00000369449.2	-	3	427	c.209C>A	c.(208-210)cCt>cAt	p.P70H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	70	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGAACGGAGGATTGGTACC	0.373000													28	55					1.5548e-18	2.02858e-18	1	1	0
LGALS8	3964	broad.mit.edu	37	1	236702282	236702282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702282A>G	ENST00000526589.1	+	7	758	c.238A>G	c.(238-240)Act>Gct	p.T80A	LGALS8_ENST00000416919.2_Missense_Mutation_p.T80A|LGALS8_ENST00000323938.6_Missense_Mutation_p.T53A|LGALS8_ENST00000526634.1_Missense_Mutation_p.T80A|LGALS8_ENST00000527974.1_Missense_Mutation_p.T80A|LGALS8_ENST00000341872.6_Missense_Mutation_p.T80A|LGALS8_ENST00000525042.1_Missense_Mutation_p.T80A|LGALS8_ENST00000450372.2_Missense_Mutation_p.T80A|LGALS8_ENST00000366584.4_Missense_Mutation_p.T80A|LGALS8_ENST00000352231.2_Missense_Mutation_p.T80A			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	80	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTTGCAATACTTTGATAAA	0.453000													46	32					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361942	105361942	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105361942G>A	ENST00000369774.4	-	15	3309	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	SH3PXD2A_ENST00000540321.1_Silent_p.G878G|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.G983G|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.G846G			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1011					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGTCGGACGCCTCGGAGGC	0.677000													19	38					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150444602	150444602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150444602C>A	ENST00000389378.2	-	2	643	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TNIP1_ENST00000521591.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.G19*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	19					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCTCTCCTGAGGGCACG	0.587000													18	27					6.94344e-10	8.49476e-10	1	1	0
DDX21	9188	broad.mit.edu	37	10	70742539	70742539	+	Missense_Mutation	SNP	C	C	T	rs117087416	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70742539C>T	ENST00000354185.4	+	15	2421	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	775						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCCAGAAGCGGAGTTTCAG	0.403000													22	48					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504543	27504543	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27504543A>G	ENST00000356183.4	-	17	2868	c.2853T>C	c.(2851-2853)atT>atC	p.I951I	GTF3C1_ENST00000561623.1_Silent_p.I951I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	951						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTGCCGAATGGGCCTGG	0.537000													4	66					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131008547	131008547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131008547G>A	ENST00000307968.7	-	13	1505	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	FNIP1_ENST00000307954.8_Silent_p.D485D|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.D530D	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGGACCATGTCTTGTCGTT	0.398000													7	78					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7687771	7687771	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7687771T>G	ENST00000533558.1	-	8	1125	c.569A>C	c.(568-570)gAt>gCt	p.D190A	CYB5R2_ENST00000299497.9_Missense_Mutation_p.D190A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D190A|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.D190A			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	190					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCAAGATATCCTCCTCTGT	0.517000											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117254736	117254736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117254736C>A	ENST00000003084.6	+	21	3569	c.3437C>A	c.(3436-3438)gCt>gAt	p.A1146D	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A1085D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1146	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGCAGTGGGCTGTAAACTCC	0.353000									Cystic Fibrosis				7	144					1.12685e-05	1.27857e-05	1	1	0
TNFAIP1	7126	broad.mit.edu	37	17	26666704	26666704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26666704C>T	ENST00000226225.2	+	2	424	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	53	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGACACCATGCTCAAGGCCAT	0.627000													20	43					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135531	85135531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85135531C>A	ENST00000437941.2	-	3	530	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	SSX2IP_ENST00000605755.1_Missense_Mutation_p.G60C|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G87C|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G87C	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	87					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCTCTTTACCTTTGGATTCT	0.363000													5	68					1.23904e-05	1.39987e-05	1	1	0
ZBED4	9889	broad.mit.edu	37	22	50278552	50278552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278552C>A	ENST00000216268.4	+	2	1719	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	414						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCGGCCTTCTCATCTTCCG	0.587000													5	62					0.0215528	0.0221649	1	1	0
CYP27B1	1594	broad.mit.edu	37	12	58160812	58160812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58160812G>T	ENST00000228606.4	-	1	222	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGTACTTGAGGGTCTGGGTC	0.592000													12	103					1.36491e-13	1.73287e-13	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142612660	142612660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142612660G>T	ENST00000265310.1	-	9	1549	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	401					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTAGGAGCAGGATGATC	0.547000													12	28					7.03913e-09	8.47891e-09	1	1	0
ADRA1B	147	broad.mit.edu	37	5	159344282	159344282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159344282G>A	ENST00000306675.3	+	1	493	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	124					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTGGGCAGCCGTGGATGTCCT	0.617000													25	33					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463807	12463807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12463807C>T	ENST00000242804.4	-	4	782	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACCTATACAGTCCAGGTT	0.418000													12	117					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528511	17528511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17528511G>A	ENST00000511148.2	+	3	607	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	169						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACGAATCGCCAACTTTCA	0.537000													4	50					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650381	146650381	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146650381G>A	ENST00000607149.1	+	0	350																											ATGACCAGTGGCAAAATTAAA	0.378000													24	31					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544839	55544839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55544839A>G	ENST00000436346.1	-	20	4304	c.3463T>C	c.(3463-3465)Tct>Cct	p.S1155P	CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1154P|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1155P|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1154P|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1155					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGATCAGAGAATCATAGAGA	0.393000													13	124					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27061108	27061108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061108G>A	ENST00000268766.6	+	2	189	c.155G>A	c.(154-156)tGc>tAc	p.C52Y	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	52	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGAATGAGTGCCAGGTCCTC	0.527000													14	36					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207078478	207078478	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207078478G>T	ENST00000367091.3	-	8	1202	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Silent_p.P241P|FAIM3_ENST00000420007.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	353					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CATGGAGCCAGGGAGATTCAG	0.512000													4	42					0.00024832	0.0002712	1	1	0
NCBP1	4686	broad.mit.edu	37	9	100407398	100407398	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100407398G>T	ENST00000375147.3	+	5	637		c.e5-1			NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa						gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCCAACAGGTCCGTTTTT	0.338000													37	51					2.04263e-09	2.48509e-09	1	1	0
BTN2A2	10385	broad.mit.edu	37	6	26392884	26392884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26392884G>A	ENST00000356709.4	+	8	1372	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	BTN2A2_ENST00000482536.1_Missense_Mutation_p.E211K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E305K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E421K|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	421	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGACCCTGGAGATGTTTGG	0.562000													16	35					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57561832	57561832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57561832C>T	ENST00000602795.1	+	3	302	c.254C>T	c.(253-255)cCa>cTa	p.P85L	NELFCD_ENST00000344018.3_Missense_Mutation_p.P76L					negative elongation factor complex member C/D																		GGAGGGTCTCCAGAGAATGTT	0.493000													19	159					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337335	115337335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115337335G>A	ENST00000337530.6	+	2	1271	c.975G>A	c.(973-975)ttG>ttA	p.L325L	KIAA1958_ENST00000536272.1_Silent_p.L325L|KIAA1958_ENST00000374244.3_Silent_p.L325L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	325										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTATCCCCTTGTCTGCCCTGC	0.557000													6	196					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780677	182780677	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182780677C>A	ENST00000431877.2	+	11	2489	c.2310C>A	c.(2308-2310)tcC>tcA	p.S770S	SSFA2_ENST00000409001.1_Silent_p.S770S|SSFA2_ENST00000320370.7_Silent_p.S770S|SSFA2_ENST00000409136.1_Silent_p.S279S|SSFA2_ENST00000428267.2_Silent_p.S617S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	770						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCCACCTTCCTTCACCTATA	0.453000													8	71					3.09899e-07	3.63227e-07	1	1	0
EVA1A	84141	broad.mit.edu	37	2	75720698	75720698	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75720698G>A	ENST00000233712.1	-	4	560	c.123C>T	c.(121-123)ggC>ggT	p.G41G	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Silent_p.G41G|EVA1A_ENST00000410113.1_Silent_p.G41G|EVA1A_ENST00000410010.1_Silent_p.G29G|EVA1A_ENST00000393913.3_Silent_p.G41G	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		CGATGCACACGCCAGAAACAA	0.532000													11	13					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43180480	43180480	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43180480C>T	ENST00000592782.1	+	10	1286	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_ENST00000258960.2_Silent_p.F385F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	385					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577000													19	54					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379542	48379542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48379542C>T	ENST00000380518.3	-	25	1813	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	COL2A1_ENST00000337299.6_Missense_Mutation_p.R481H|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	550	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCTCCAGGACGGCCAGGGTC	0.647000													6	16					0	0	1	0	0
RASSF3	283349	broad.mit.edu	37	12	65085294	65085294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65085294C>T	ENST00000542104.1	+	4	622	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RASSF3_ENST00000336061.2_Missense_Mutation_p.R168C	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	168	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACTCTACCTGCGTTTGGTAGC	0.443000													13	24					0	0	1	0	0
TMEM101	84336	broad.mit.edu	37	17	42090509	42090509	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42090509C>T	ENST00000589334.1	-	4	648	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM101_ENST00000206380.3_Silent_p.S111S|TMEM101_ENST00000542039.1_Silent_p.S53S|TMEM101_ENST00000587529.1_Silent_p.S111S			Q96IK0	TM101_HUMAN	transmembrane protein 101	111					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACTGTGCGCGAGTACATAC	0.632000													10	16					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346645	29346645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29346645C>A	ENST00000558402.1	+	5	1157	c.558C>A	c.(556-558)taC>taA	p.Y186*	APBA2_ENST00000558259.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.Y186*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	186	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGTCACTACTGTGCCAGCA	0.642000													3	26					0.115264	0.117355	1	1	0
KBTBD6	89890	broad.mit.edu	37	13	41704782	41704782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41704782G>A	ENST00000379485.1	-	1	2100	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	KBTBD6_ENST00000499385.2_Silent_p.C556C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	622							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGTTCAAGGCAGGAAGGAT	0.433000													28	37					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134363	151134363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151134363G>A	ENST00000368908.5	-	2	1054	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	LYSMD1_ENST00000440902.2_Missense_Mutation_p.R84C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	132					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTGGCACGTCCTGCTCCT	0.502000													48	49					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95796895	95796895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95796895T>C	ENST00000375482.3	+	17	2354	c.1858T>C	c.(1858-1860)Tgg>Cgg	p.W620R	FGD3_ENST00000416701.2_Missense_Mutation_p.W619R|FGD3_ENST00000538555.1_Missense_Mutation_p.W223R|FGD3_ENST00000337352.6_Missense_Mutation_p.W620R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGTGAGACCTGGAGCGAGGT	0.677000													21	22					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094990	145094990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145094990C>T	ENST00000377470.3	+	2	494	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SPATC1_ENST00000447830.2_Missense_Mutation_p.T131M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	131										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCACCCACGTCACAGAGC	0.667000													8	11					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640302	7640302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7640302C>A	ENST00000396620.3	-	7	1887	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	CD163_ENST00000432237.2_Intron|CD163_ENST00000359156.4_Intron|CD163_ENST00000541972.1_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAAAAGACAGCTATGACTCCC	0.478000													28	46					4.59853e-10	5.63411e-10	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428000													8	158					0.000442599	0.00048047	1	1	0
USO1	8615	broad.mit.edu	37	4	76708250	76708250	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76708250T>C	ENST00000538159.1	+	10	897	c.897T>C	c.(895-897)ccT>ccC	p.P299P	USO1_ENST00000514213.2_Silent_p.P282P			O60763	USO1_HUMAN	USO1 vesicle transport factor	297	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACCCTCCTGGTGCTACCA	0.438000													6	81					0	0	1	0	0
SAMD10	140700	broad.mit.edu	37	20	62608449	62608449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62608449G>A	ENST00000369886.3	-	3	494	c.320C>T	c.(319-321)tCg>tTg	p.S107L	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	107										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCACCCAGCGAGGGGCTTGT	0.637000													19	47					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633850	79633850	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633850G>T	ENST00000393350.1	-	0	761				MAF_ENST00000326043.4_De_novo_Start_InFrame	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog						transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATGGGCTGCAGGAGAGGGGCC	0.721000			T	IGH@	MM								6	10					3.59834e-05	4.01776e-05	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47044503	47044503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47044503G>A	ENST00000450053.3	+	34	5695	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R118H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1655H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1839							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGCATGCGTCTGAAGCTG	0.592000													12	19					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240029749	240029749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240029749G>A	ENST00000345617.3	-	15	2885	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	HDAC4_ENST00000543185.1_Silent_p.C282C|HDAC4_ENST00000541256.1_Silent_p.C672C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	698	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTTACCTCGCATTTGCCCC	0.672000													10	8					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135945982	135945982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135945982G>A	ENST00000372080.4	+	10	1446	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	474					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACGGGCTACCGGCCCCAAGAC	0.607000													8	101					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956204	66956204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66956204C>T	ENST00000299759.6	-	5	952	c.702G>A	c.(700-702)gcG>gcA	p.A234A	RRAD_ENST00000420652.1_Silent_p.A234A			P55042	RAD_HUMAN	Ras-related associated with diabetes	234					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTGCAATGCCGCTGATGTCT	0.592000													19	40					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729275	35729275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35729275G>T	ENST00000187397.4	+	6	762	c.306G>T	c.(304-306)gaG>gaT	p.E102D	ARPP21_ENST00000458225.1_Missense_Mutation_p.E102D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E102D|ARPP21_ENST00000444190.1_Missense_Mutation_p.E102D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E102D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348000													5	89					0.014758	0.0152625	1	1	0
PARVA	55742	broad.mit.edu	37	11	12518085	12518085	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12518085C>A	ENST00000334956.8	+	5	944	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	PARVA_ENST00000538608.1_Missense_Mutation_p.L108M|PARVA_ENST00000539723.1_Missense_Mutation_p.L161M|PARVA_ENST00000550549.1_Missense_Mutation_p.L161M	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	161	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCAGACTGTCCTGGAGAAGAT	0.468000													6	10					0.217242	0.218821	1	1	0
GPC1	2817	broad.mit.edu	37	2	241398589	241398589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241398589G>T	ENST00000264039.2	+	2	557	c.309G>T	c.(307-309)caG>caT	p.Q103H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	103					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTGCCACCCAGCTGCGCAGCT	0.706000													5	11					0.000602214	0.000649039	1	1	0
PARM1	25849	broad.mit.edu	37	4	75938264	75938264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75938264G>A	ENST00000307428.7	+	2	885	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	225					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACAACTGTGTCAGGCAA	0.532000													6	45					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89795646	89795646	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89795646C>T	ENST00000289816.5	+	6	1176	c.864C>T	c.(862-864)gaC>gaT	p.D288D	ZNF276_ENST00000446326.2_Silent_p.D149D|ZNF276_ENST00000443381.2_Silent_p.D363D|ZNF276_ENST00000568064.1_Silent_p.D271D	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCTAGAGACGTCTTGAGTG	0.512000													19	38					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356643	42356643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356643G>A	ENST00000554171.1	+	5	3247	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LRFN5_ENST00000298119.4_Missense_Mutation_p.R272H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R272H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	272	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAACTGGCCGCTACTTTTGG	0.468000										HNSCC(30;0.082)			50	67					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106903274	106903274	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903274C>T	ENST00000228347.4	+	28	3571	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	POLR3B_ENST00000539066.1_Silent_p.L1059L|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1117					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTCCAGGAACTACAGTCTAT	0.443000													21	57					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699822	49699822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49699822G>A	ENST00000296452.4	+	6	10658	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3515					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGAGGCCCCGCCCTGCCGGA	0.662000													10	17					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183814219	183814219	+	Silent	SNP	C	C	T	rs147036938	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183814219C>T	ENST00000438320.2	-	5	713	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DCTD_ENST00000510370.1_Silent_p.A141A|DCTD_ENST00000357067.3_Silent_p.A152A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ACAGGAGCCTCGCAGCAGTTG	0.498000													4	22					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131191542	131191542	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131191542C>T	ENST00000357668.1	-	8	741	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ASAP1_ENST00000518721.1_Silent_p.Q238Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	238					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Q238H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTATAAGATTCTGCAGCAGAT	0.368000													18	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179639038C>T	ENST00000589042.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R2318H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2033	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403000													12	103					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107330592	107330592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107330592C>T	ENST00000265715.3	+	10	1397	c.1173C>T	c.(1171-1173)agC>agT	p.S391S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	391			S -> N (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGGATCAGCAACATCTTCT	0.473000									Pendred syndrome				14	102					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45935911	45935911	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935911T>G	ENST00000532681.1	-	7	1228	c.365A>C	c.(364-366)gAg>gCg	p.E122A	PEX16_ENST00000241041.3_Missense_Mutation_p.E217A|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000378750.5_Missense_Mutation_p.E217A			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	217					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCGATGGTCTCCTGCAGCCC	0.662000													17	36					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300809	18300809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18300809G>A	ENST00000441493.2	-	26	4970	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1540						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AATTTCTCCTGCAGGCTTGAG	0.622000													12	19					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932131	61932131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61932131G>A	ENST00000280772.1	-	21	2604	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	ANK3_ENST00000503366.1_Missense_Mutation_p.R788C|ANK3_ENST00000373827.2_Missense_Mutation_p.R799C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	805					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCCGAGGCGCCGGGCAATG	0.458000													10	27					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546422	129546422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546422G>T	ENST00000305536.6	+	6	633	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	190	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCGTCACCCAGACGCAAGACA	0.478000													4	69					2.56e-06	2.9446e-06	1	1	0
SLC38A9	153129	broad.mit.edu	37	5	54929684	54929684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54929684G>A	ENST00000396865.2	-	14	1919	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000416547.2_Missense_Mutation_p.A319V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.A443V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.A380V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	443					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAATATCCTTGCAATGAAGGA	0.413000													18	23					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128476856	128476856	+	Missense_Mutation	SNP	G	G	A	rs138525316		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128476856G>A	ENST00000322313.4	-	16	2901	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	915					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGGGCCCGGGGCCCATCA	0.517000													10	151					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30623075	30623075	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30623075C>A	ENST00000376442.3	-	18	2895	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	DHX16_ENST00000376437.5_Missense_Mutation_p.E419D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	900					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GTACAAAGTTCTCATAGCACC	0.512000													26	54					1.66031e-10	2.04717e-10	1	1	0
FAT2	2196	broad.mit.edu	37	5	150947377	150947377	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947377A>G	ENST00000261800.5	-	1	1128	c.1116T>C	c.(1114-1116)agT>agC	p.S372S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	372	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAAACTCACTAAGCTGCA	0.507000													5	52					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640081	36640081	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36640081G>T	ENST00000373448.2	-	3	2376	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	TTI1_ENST00000373447.3_Missense_Mutation_p.P713H|TTI1_ENST00000449821.1_Missense_Mutation_p.P713H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	713							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGGGTATGAGGATGCAGAGC	0.498000													6	31					0.0215528	0.0221649	1	1	0
USP3	9960	broad.mit.edu	37	15	63880966	63880966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63880966C>T	ENST00000268049.7	+	14	1539	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Silent_p.Y383Y|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000380324.3_Silent_p.Y427Y|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_Silent_p.Y178Y|USP3_ENST00000559711.1_Silent_p.Y338Y|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.Y410Y			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	427					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTGATACATACGTAGAATTTC	0.373000													34	55					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238211	104238211	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238211G>A	ENST00000374851.1	-	4	2311	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.I388I|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.I388I			Q9BRR3	CI125_HUMAN	transmembrane protein 246	388						integral to membrane											AGAAGAGCCCGATGTGTTTCA	0.522000													4	52					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582000													6	25					0.00116845	0.00124821	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26422936	26422936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26422936C>T	ENST00000335473.7	+	43	7246	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MYO18B_ENST00000536101.1_Silent_p.D2332D|MYO18B_ENST00000407587.2_Silent_p.D2333D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTTCAGACGGTGTTGGGG	0.552000													18	43					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138707005	138707005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138707005C>T	ENST00000389532.4	-	16	4508	c.4444G>A	c.(4444-4446)Gcc>Acc	p.A1482T	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1493T|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1204T	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1482	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGATATGGCATTGTGAATA	0.413000													7	16					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33199304	33199304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33199304T>C	ENST00000396033.2	-	14	2146	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	ITGB1_ENST00000302278.3_Missense_Mutation_p.T671A|ITGB1_ENST00000374956.4_Missense_Mutation_p.T671A|ITGB1_ENST00000423113.1_Missense_Mutation_p.T671A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	671					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTACCTTGGTAATGTTAAAA	0.408000													26	29					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217958	36217958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217958C>A	ENST00000258840.6	-	10	1474	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E362*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	362					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTCGGGTTCTGTAGTTCTG	0.373000													39	67					3.43241e-23	4.54183e-23	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64601050	64601050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64601050G>A	ENST00000498707.1	-	21	3478	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1018*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1046	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGCACCTCTGAATGGTAACT	0.478000													12	78					0	0	1	0	0
TRGC2	0	broad.mit.edu	37	7	38289005	38289005	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38289005G>A	ENST00000436911.2	-	0	168																											CCCCTCCTGGGATCCCAGAAT	0.423000													21	314					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056271	140056271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140056271G>A	ENST00000504366.1	-	9	2774	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	HARS_ENST00000415192.2_Missense_Mutation_p.R314W|HARS_ENST00000448240.1_Missense_Mutation_p.R193W|HARS_ENST00000504156.1_Missense_Mutation_p.R388W|HARS_ENST00000457527.2_Missense_Mutation_p.R368W|HARS_ENST00000438307.2_Missense_Mutation_p.R348W|HARS_ENST00000431330.2_Missense_Mutation_p.R274W|HARS_ENST00000307633.3_Missense_Mutation_p.R328W			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	388					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGAAAATCCGCTCCACCCCA	0.562000													75	65					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764401	82764401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764401G>T	ENST00000423517.2	-	3	2802	c.2465C>A	c.(2464-2466)cCt>cAt	p.P822H	PCLO_ENST00000333891.8_Missense_Mutation_p.P822H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	768	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGTCGAGGTATGGCTTT	0.443000													17	209					1.99824e-07	2.35189e-07	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22068693	22068693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22068693G>T	ENST00000261200.4	-	5	724	c.725C>A	c.(724-726)cCt>cAt	p.P242H	ABCC9_ENST00000261201.4_Missense_Mutation_p.P242H|ABCC9_ENST00000345162.2_Missense_Mutation_p.P242H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	242					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATCAATAGGCTTTTTGTG	0.368000													26	54					2.64397e-27	3.52669e-27	1	1	0
RAD1	5810	broad.mit.edu	37	5	34911753	34911753	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911753G>T	ENST00000382038.2	-	4	1891	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RAD1_ENST00000341754.4_Missense_Mutation_p.L158M	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCTGACTGCAGAATAATTTTA	0.423000								Other conserved DNA damage response genes					42	61					8.17448e-37	1.1008e-36	1	1	0
CHURC1	91612	broad.mit.edu	37	14	65381186	65381186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65381186G>A	ENST00000607599.1	+	1	108	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CHURC1_ENST00000548752.2_Nonsense_Mutation_p.W18*|CHURC1_ENST00000549115.1_Nonsense_Mutation_p.W18*|CHURC1_ENST00000552002.2_5'UTR|CHURC1_ENST00000359118.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGAAGCGTTGGAGGACATTCC	0.622000													31	65					0	0	1	0	0
DNAL1	83544	broad.mit.edu	37	14	74153965	74153965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74153965G>A	ENST00000553645.1	+	6	309	c.268G>A	c.(268-270)Gca>Aca	p.A90T	DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000540526.1_Missense_Mutation_p.A51T|DNAL1_ENST00000554871.1_Missense_Mutation_p.A51T|DNAL1_ENST00000554339.1_Missense_Mutation_p.A3T	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	90										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTTTCAGGAGGCAGTAGGGGA	0.323000													20	37					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815351	23815351	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23815351C>T	ENST00000264867.2	-	8	1874	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	585	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGATCTTGACCTGGAATATG	0.428000													13	24					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721614	18721614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18721614C>T	ENST00000380548.4	+	15	2296	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R653W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	653	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGCCGCCGGCCCCCACA	0.602000													20	30					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22262474	22262474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22262474A>C	ENST00000263026.5	+	6	923	c.449A>C	c.(448-450)aAg>aCg	p.K150T		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	150	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCACAGGAAGAAGCTCTCC	0.597000													7	141					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424716	47424716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47424716G>T	ENST00000404338.3	+	1	2784	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	928					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCCAACCCCAGCATAAACTTG	0.443000													8	85					1.12685e-05	1.27857e-05	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95357892	95357892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95357892G>A	ENST00000271227.6	+	14	1778	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	SLC44A3_ENST00000529450.1_Missense_Mutation_p.R526Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R511Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R491Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R479Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R523Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	559						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTACAATCGGGCATTCCAG	0.408000													126	88					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776319	12776319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12776319C>T	ENST00000456935.2	-	3	323	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.A92T|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A95T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	95					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCACACCGGCGTGCTGGATG	0.552000													29	64					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134247	11134247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11134247G>A	ENST00000358026.2	+	20	3197	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	SMARCA4_ENST00000590574.1_Silent_p.V971V|SMARCA4_ENST00000413806.3_Silent_p.V971V|SMARCA4_ENST00000344626.4_Silent_p.V971V|SMARCA4_ENST00000541122.2_Silent_p.V971V|SMARCA4_ENST00000589677.1_Silent_p.V971V|SMARCA4_ENST00000429416.3_Silent_p.V971V|SMARCA4_ENST00000444061.3_Silent_p.V971V|SMARCA4_ENST00000450717.3_Silent_p.V971V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	971					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCACAAAGTGCTGCGGCCCT	0.567000			"""F, N, Mis"""		NSCLC								9	9					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473947	6473947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473947C>T	ENST00000382599.4	-	1	226	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	4					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGTCCGTGTCCTCGCCCATT	0.672000													20	48					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69387793	69387793	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69387793G>T	ENST00000193403.6	-	3	653	c.270C>A	c.(268-270)atC>atA	p.I90I	ACTN1_ENST00000438964.2_Silent_p.I90I|ACTN1_ENST00000538545.2_Silent_p.I90I|ACTN1_ENST00000394419.4_Silent_p.I90I|ACTN1_ENST00000376839.3_Silent_p.I25I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	90	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGACGTTGGAGATCTTGTGCA	0.562000													4	56					1	1	1	1	0
FDXR	2232	broad.mit.edu	37	17	72861912	72861912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72861912C>T	ENST00000455107.2	-	7	822	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	FDXR_ENST00000544854.1_Missense_Mutation_p.V128M|FDXR_ENST00000442102.2_Missense_Mutation_p.V223M|FDXR_ENST00000420580.2_Missense_Mutation_p.V140M|FDXR_ENST00000293195.5_Missense_Mutation_p.V180M|FDXR_ENST00000583917.1_Missense_Mutation_p.V181M|FDXR_ENST00000582944.1_Missense_Mutation_p.V172M|FDXR_ENST00000413947.2_Missense_Mutation_p.V211M|FDXR_ENST00000581530.1_Missense_Mutation_p.V180M			P22570	ADRO_HUMAN	ferredoxin reductase	180					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGAATCACGGCTGTGTCA	0.642000													9	24					0	0	1	0	0
TMEM120A	83862	broad.mit.edu	37	7	75621548	75621548	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75621548C>A	ENST00000493111.2	-	0	230				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GTGCGGCCCCCTCGGCCTCTG	0.602000													9	124					7.03913e-09	8.47891e-09	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581936	84581936	+	Missense_Mutation	SNP	C	C	T	rs139144597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84581936C>T	ENST00000286744.5	+	16	2017	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T598M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	598	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACATTCACGCAGACTGAG	0.622000													7	53					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581676	24581676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24581676C>T	ENST00000358321.3	+	8	1379	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	373	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGACGGGACGCAGCTCCTG	0.701000													4	5					0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211822	107211822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:107211822C>T	ENST00000375926.1	-	2	303	c.80G>A	c.(79-81)aGc>aAc	p.S27N	ARGLU1_ENST00000400198.3_Silent_p.E177E			Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	70	Arg-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTCTCTGTCGCTCGAGTTCTT	0.483000													34	43					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910103	910103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:910103C>A	ENST00000316157.3	-	3	289	c.249G>T	c.(247-249)tgG>tgT	p.W83C		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCACCTCCTCCCATGCAGCAC	0.592000													9	31					0.000274275	0.000298791	1	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316022	73316022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316022G>A	ENST00000258098.6	-	2	1093	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	285					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCAGTGGACAGCCAGCTGCTA	0.687000													6	14					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140214409	140214409	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140214409G>A	ENST00000525929.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.P147P|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.547000													24	25					0	0	1	0	0
VEGFB	7423	broad.mit.edu	37	11	64003358	64003358	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64003358G>A	ENST00000309422.2	+	3	473	c.177G>A	c.(175-177)gaG>gaA	p.E59E	VEGFB_ENST00000426086.2_Silent_p.E59E	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	59					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACTGTGGAGCTCATGGGCA	0.627000													8	18					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	712						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687000													41	77					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094078	46094078	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46094078C>A	ENST00000323040.4	-	2	1991	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	349						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTGGTCCCCCTGGGAGGGCG	0.627000													7	58					8.12818e-05	8.99451e-05	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48766717	48766717	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48766717T>C	ENST00000314191.2	-	52	6873	c.6817A>G	c.(6817-6819)Att>Gtt	p.I2273V	PRKDC_ENST00000338368.3_Missense_Mutation_p.I2273V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2274					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAATTGAATCCCTACTGAG	0.403000								Non-homologous end-joining					11	19					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91830633	91830633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91830633T>C	ENST00000394507.1	-	19	2913	c.2130A>G	c.(2128-2130)gtA>gtG	p.V710V	KRIT1_ENST00000340022.2_Silent_p.V710V|KRIT1_ENST00000412043.2_Silent_p.V710V|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Silent_p.V662V|KRIT1_ENST00000394505.2_Silent_p.V710V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289000													6	80					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19123610	19123610	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19123610C>A	ENST00000276914.2	-	4	441	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	PLIN2_ENST00000380464.3_Missense_Mutation_p.D88Y|PLIN2_ENST00000411567.1_Missense_Mutation_p.D88Y|PLIN2_ENST00000380465.3_Missense_Mutation_p.D88Y	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	88					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAATCCTGTCTAGCCCCTTA	0.413000													17	29					3.62473e-10	4.44982e-10	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67417060	67417060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67417060G>T	ENST00000355520.5	-	12	1713	c.1072C>A	c.(1072-1074)Cta>Ata	p.L358I	OPHN1_ENST00000540071.1_Missense_Mutation_p.L358I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	358	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCCATCCATAGCCTTCTGTTA	0.478000													10	55					0.00829132	0.00869385	1	1	0
HCN3	57657	broad.mit.edu	37	1	155258082	155258082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258082C>A	ENST00000368358.3	+	8	2161	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAACCCTCTCTGCCTCAG	0.692000													6	14					0.0381472	0.0390147	1	1	0
MED15	51586	broad.mit.edu	37	22	20909246	20909246	+	Missense_Mutation	SNP	C	C	A	rs145726043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20909246C>A	ENST00000263205.7	+	5	331	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.L62M|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.L62M|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.L88M	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACTCCAGAGCCTGACTGGCGG	0.617000													5	58					3.59834e-05	4.01776e-05	1	1	0
GPR125	166647	broad.mit.edu	37	4	22438079	22438079	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22438079A>T	ENST00000334304.5	-	9	1540	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GPR125_ENST00000508133.1_Missense_Mutation_p.L198H|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.L424H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	424					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAACATATAAAGAACTCTAGT	0.353000													4	44					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016442	1016442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1016442G>A	ENST00000421673.2	-	31	6409	c.6359C>T	c.(6358-6360)cCt>cTt	p.P2120L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2120	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAAACAGGAGTGGTTGC	0.527000													43	33					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35741775	35741775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35741775G>A	ENST00000411850.1	+	13	1407	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	TOM1_ENST00000425375.1_Missense_Mutation_p.V383M|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.V428M|TOM1_ENST00000436462.2_Missense_Mutation_p.V390M|TOM1_ENST00000447733.1_Missense_Mutation_p.V395M	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	428					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTCCACTGACGTGGTATGTTG	0.567000													4	46					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588806	6588806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588806A>T	ENST00000285599.3	+	4	511	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.T159S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTCTGCCACGACGCCCACCCT	0.602000													4	39					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11887482	11887482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11887482C>A	ENST00000322748.3	-	7	1303	c.699G>T	c.(697-699)aaG>aaT	p.K233N	ZNF18_ENST00000454073.3_Missense_Mutation_p.K233N|ZNF18_ENST00000580306.1_Missense_Mutation_p.K233N|ZNF18_ENST00000580613.1_Missense_Mutation_p.K182N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGTATTGCTCCTTTTGAGTGG	0.448000													10	15					2.17888e-05	2.45068e-05	1	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858679	67858679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67858679C>T	ENST00000388833.3	+	6	890	c.513C>T	c.(511-513)agC>agT	p.S171S	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.S225S|TSNAXIP1_ENST00000415766.3_Silent_p.S156S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	171					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATTGCAGAGCGAGGTGAATG	0.478000													10	14					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847552	49847552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847552G>A	ENST00000333486.3	-	14	1856	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	566	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCCCCAGGTGCCCGATGTGC	0.607000													8	32					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14761613	14761613	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14761613T>C	ENST00000261658.2	+	8	1559	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	BFAR_ENST00000563971.1_Missense_Mutation_p.Y303H|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.Y300H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	428					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGGGCCCTGTACTTTAACCC	0.493000													56	73					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059177	152059177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152059177G>A	ENST00000368806.1	-	3	1045	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	327							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACATTCTACAGACATCCTTGG	0.463000													122	158					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2474511	2474511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2474511C>A	ENST00000278772.4	-	3	518	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000381253.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000358413.2_Missense_Mutation_p.D11Y	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CAGTATTGATCTCCCAGTGCT	0.433000													13	152					6.72482e-11	8.32712e-11	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11322803	11322803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11322803C>T	ENST00000294618.7	-	36	4527	c.4516G>A	c.(4516-4518)Gtc>Atc	p.V1506I	DOCK6_ENST00000319867.7_Missense_Mutation_p.V845I|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1506	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GACATGGTGACCTGCATCTTC	0.592000													6	17					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947321	145947321	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947321A>G	ENST00000292562.7	-	5	1999	c.1724T>C	c.(1723-1725)tTc>tCc	p.F575S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGGGACTGAAAGCTTTTCC	0.458000													5	85					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401710	140401710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140401710C>T	ENST00000286349.3	+	2	939	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	250						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTACAAGCGCTGCATCAC	0.622000													19	26					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631286	126631286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126631286G>T	ENST00000359653.4	+	1	595	c.224G>T	c.(223-225)aGg>aTg	p.R75M	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	75					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCAAGACCAAGGGTGAAATCT	0.428000													36	55					3.03874e-20	3.98683e-20	1	1	0
LDLRAD2	401944	broad.mit.edu	37	1	22141118	22141118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22141118G>A	ENST00000344642.2	+	2	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	105						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756000													10	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499996	179499996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179499996C>T	ENST00000589042.1	-	228	42144	c.41920G>A	c.(41920-41922)Gtt>Att	p.V13974I	TTN_ENST00000460472.2_Missense_Mutation_p.V4909I|TTN_ENST00000342992.6_Missense_Mutation_p.V11406I|TTN_ENST00000359218.5_Missense_Mutation_p.V5034I|TTN_ENST00000342175.6_Missense_Mutation_p.V5101I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12333I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12333	Ig-like 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATGGTAACGTCCTCTATT	0.413000													19	39					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5159588	5159588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159588C>T	ENST00000460006.1	+	5	822	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CDS2_ENST00000379062.4_Missense_Mutation_p.T52I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	172					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTTCCTTTACTCTCTATCTA	0.408000													6	97					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138599732	138599732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138599732C>T	ENST00000251691.4	+	13	2439	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	758	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAGCGGCCGACCCTGGCG	0.607000													30	42					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30142623	30142623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30142623G>A	ENST00000335574.5	+	8	923	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HM13_ENST00000376127.3_Missense_Mutation_p.V225I|HM13_ENST00000340852.5_Missense_Mutation_p.V267I|HM13_ENST00000398174.3_Missense_Mutation_p.V267I|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	267					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGAGATGTCGTCATTCCAGG	0.562000													16	41					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725255	49725255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49725255G>A	ENST00000449682.2	-	2	531	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MST1_ENST00000545762.1_Missense_Mutation_p.P43L|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	43	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAAGGCCCGGGCACCACCGC	0.612000													12	16					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007766	130007766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130007766C>T	ENST00000485477.1	+	11	2187	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CPA5_ENST00000461828.1_Missense_Mutation_p.A353V|CPA5_ENST00000355388.3_Missense_Mutation_p.A353V|CPA5_ENST00000474905.1_Missense_Mutation_p.A353V|CPA5_ENST00000466363.2_Missense_Mutation_p.A353V|CPA5_ENST00000393213.3_Missense_Mutation_p.A353V|CPA5_ENST00000431780.2_Intron			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	353					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCCAAGGATGCGGTGGAGGCC	0.602000													31	26					0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587087	111587087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587087G>A	ENST00000368847.4	+	4	675	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	108					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGTGGTAACGTCCTTATCTT	0.408000													18	36					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150710953	150710953	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150710953A>G	ENST00000297494.3	+	26	3754	c.3397A>G	c.(3397-3399)Acg>Gcg	p.T1133A	NOS3_ENST00000461406.1_Missense_Mutation_p.T927A|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1133					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CATCCTGGCGACGGAGGGCGA	0.697000													3	5					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475410	24475410	+	Missense_Mutation	SNP	G	G	A	rs143874618		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24475410G>A	ENST00000230036.1	-	5	490	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	127						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATCTGCCGCCATGTGAGA	0.438000													21	48					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395139	57395139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57395139G>A	ENST00000543257.1	-	13	2124	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	C8B_ENST00000535057.1_Missense_Mutation_p.P510S|C8B_ENST00000371237.4_Missense_Mutation_p.P572S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	572	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTTTGAGGAGGTGGATTGTTA	0.483000													22	34					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101757465	101757465	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101757465C>A	ENST00000261637.4	+	45	6076	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1968					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATGAAATCCTCGGCAAGTT	0.403000													8	46					0.000157383	0.00017284	1	1	0
HLTF	6596	broad.mit.edu	37	3	148757856	148757856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148757856C>A	ENST00000310053.5	-	21	2657	c.2464G>T	c.(2464-2466)Gag>Tag	p.E822*	HLTF_ENST00000494055.1_Nonsense_Mutation_p.E822*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E821*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E822*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	822					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACTTTTTCTCACTGTCACGT	0.323000													10	35					2.17888e-05	2.45068e-05	1	1	0
DYSF	8291	broad.mit.edu	37	2	71795213	71795213	+	Splice_Site	SNP	G	G	A	rs140108514	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795213G>A	ENST00000258104.3	+	25	2920		c.e25+1		DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCTGAAACCGTGAGTACCTG	0.582000													5	76					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080582	79080582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79080582C>A	ENST00000321300.6	+	12	1468	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	BAIAP2_ENST00000416299.2_Missense_Mutation_p.L322M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L459M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L459M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L381M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L459M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L459M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L492M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	459					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGCAACCTCCTGGACAAGGA	0.692000													8	26					1.76689e-08	2.11513e-08	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751882	247751882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751882G>A	ENST00000320065.1	+	1	221	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R74H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCCTGTACCGCTGCTTCACC	0.473000													48	105					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17119724	17119724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17119724C>T	ENST00000285071.4	-	11	1724	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	424					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGATCTGCACGTGCGGGCTG	0.672000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				8	6					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57344544	57344544	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57344544G>T	ENST00000342756.5	+	7	1363		c.e7-1		SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTTCTCTTAGGATGGGACTG	0.413000													6	57					0.0215528	0.0221649	1	1	0
MSLNL	401827	broad.mit.edu	37	16	830489	830489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:830489C>T	ENST00000293892.3	-	3	511	c.512G>A	c.(511-513)cGc>cAc	p.R171H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552000													61	60					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338701	72338701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338701G>A	ENST00000512686.1	+	11	1981	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGGCATTACGCTTTGTGTTT	0.458000													26	58					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068271	122068271	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122068271T>C	ENST00000454328.1	-	9	895	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.Q223R|TNIP3_ENST00000507879.1_Missense_Mutation_p.Q293R|TNIP3_ENST00000509841.1_Missense_Mutation_p.Q300R			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	223										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTTTCTCTTGATTAAGTCT	0.383000													12	129					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305688	96305688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96305688C>T	ENST00000277165.6	+	11	2288	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	FAM120A_ENST00000340893.4_Silent_p.D698D|FAM120A_ENST00000333936.5_Silent_p.D726D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	698						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGTCGGACACCCCAGCCA	0.632000													20	42					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241892	3241892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3241892T>C	ENST00000217939.6	-	5	1988	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	612	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGGAAGAATCCAGCTAAGG	0.458000													9	22					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463635	26463635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26463635C>T	ENST00000429381.1	+	4	806	c.594C>T	c.(592-594)gaC>gaT	p.D198D	BTN2A1_ENST00000469185.1_Silent_p.D198D|BTN2A1_ENST00000312541.5_Silent_p.D198D|BTN2A1_ENST00000541522.1_Silent_p.D137D			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	198					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATGCAGACGGCCTCTTCA	0.557000													46	58					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323354	31323354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31323354C>T	ENST00000542188.1	-	22	3323	c.3010G>A	c.(3010-3012)Gac>Aac	p.D1004N	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D987N|TRPM1_ENST00000397795.2_Missense_Mutation_p.D965N|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	965					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TACAGCATGTCGATCATCTGA	0.483000													20	28					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96329619	96329619	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96329619T>C	ENST00000231368.5	+	6	2043	c.1351T>C	c.(1351-1353)Tca>Cca	p.S451P	LNPEP_ENST00000395770.3_Missense_Mutation_p.S437P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	451					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TAACACTTCTTCAATGGCGGA	0.468000													7	96					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28908200	28908200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28908200G>T	ENST00000282397.4	-	18	2806	c.2555C>A	c.(2554-2556)tCa>tAa	p.S852*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.S70*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	852	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCACGTAGGTGATTTCTTAAT	0.433000													77	99					9.35569e-46	1.2638e-45	1	1	0
ACACB	32	broad.mit.edu	37	12	109614053	109614053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109614053G>A	ENST00000338432.7	+	9	1541	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000377854.5_Silent_p.P474P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478000													98	137					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390141	27390141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390141A>G	ENST00000379214.4	-	18	2572	c.2129T>C	c.(2128-2130)tTa>tCa	p.L710S	LGR4_ENST00000389858.4_Missense_Mutation_p.L686S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	710						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAATAGCACTAACGTTACAGT	0.398000													12	85					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740150	76740150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:76740150G>A	ENST00000393262.3	-	2	1698	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	539			P -> L (in dbSNP:rs35676114).		cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTGAGTAATGGTTCATAATAA	0.358000									Bardet-Biedl syndrome				34	81					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105241307	105241307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105241307C>T	ENST00000554581.1	-	6	2081	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	AKT1_ENST00000544168.1_Missense_Mutation_p.V139I|AKT1_ENST00000554848.1_Missense_Mutation_p.V201I|AKT1_ENST00000349310.3_Missense_Mutation_p.V201I|AKT1_ENST00000402615.2_Missense_Mutation_p.V201I|AKT1_ENST00000407796.2_Missense_Mutation_p.V201I|AKT1_ENST00000555528.1_Missense_Mutation_p.V201I			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	201	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTCTGCAGGACGCGGTTCTCG	0.677000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								15	33					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220164440	220164440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220164440C>T	ENST00000295718.2	-	10	1745	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron|PTPRN_ENST00000423636.2_Missense_Mutation_p.G412D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	502					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGAAGCTGCCTGAGGACAT	0.597000													29	51					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945037	58945037	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58945037C>A	ENST00000254166.3	-	3	2174	c.1774G>T	c.(1774-1776)Gtt>Ttt	p.V592F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	592						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTATGAACTTTCTGATGC	0.393000													23	88					4.4004e-07	5.144e-07	1	1	0
CELF1	10658	broad.mit.edu	37	11	47493832	47493832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47493832G>A	ENST00000395290.2	-	12	1417	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	CELF1_ENST00000310513.5_Missense_Mutation_p.R467W|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.R499W|CELF1_ENST00000532048.1_Missense_Mutation_p.R497W|CELF1_ENST00000358597.3_Missense_Mutation_p.R471W|CELF1_ENST00000361904.3_Missense_Mutation_p.R468W|CELF1_ENST00000395292.2_Missense_Mutation_p.R468W	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	471	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACTTTAAGCCGCTTCATGCCA	0.517000													122	112					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425626	65425626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65425626G>T	ENST00000330909.8	-	9	1197	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.L400I|MAGI1_ENST00000402939.2_Missense_Mutation_p.L400I|MAGI1_ENST00000497477.2_Missense_Mutation_p.L400I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	400					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctCAAGCTGCTTCTTC	0.502000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0.00024832	0.0002712	1	1	0
CHRM5	0	broad.mit.edu	37	15	34355585	34355585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355585C>T	ENST00000383263.5	+	3	1337	c.667C>T	c.(667-669)Cga>Tga	p.R223*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R223*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	223					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AACAGAGAAGCGAACCAAGGA	0.527000													8	166					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111907698	111907698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111907698G>A	ENST00000393256.3	+	3	745	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BCL2L11_ENST00000357757.2_Missense_Mutation_p.E158K|BCL2L11_ENST00000308659.8_Missense_Mutation_p.E98K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.E68K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	158					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TATTGGAGACGAGTTTAACGC	0.453000													3	32					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177529	23177529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23177529G>A	ENST00000389131.3	-	8	1708	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	447	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACTCGGCCCTCGTAG	0.652000													13	22					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140222793	140222793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140222793C>T	ENST00000531613.1	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGGCGAGATCAGCA	0.652000													8	113					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614391	135614391	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135614391G>A	ENST00000520727.1	-	7	1834	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	ZFAT_ENST00000377838.3_Missense_Mutation_p.A524V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A512V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A512V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A462V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A512V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCCTGGAGGGCAAACTCCTC	0.622000													6	10					0	0	1	0	0
MTFR2	113115	broad.mit.edu	37	6	136565942	136565942	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136565942T>C	ENST00000420702.1	-	3	518	c.129A>G	c.(127-129)aaA>aaG	p.K43K	MTFR2_ENST00000451457.2_Silent_p.K43K	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		GTGGAAGCATTTTCCCAATAA	0.323000													3	75					0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152915526	152915526	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152915526G>T	ENST00000342782.3	+	4	1186	c.921G>T	c.(919-921)caG>caT	p.Q307H	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q307H			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	307	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCAGAAGCTCCACC	0.562000													14	303					4.3838e-07	5.12524e-07	1	1	0
TMC5	79838	broad.mit.edu	37	16	19501749	19501749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19501749G>A	ENST00000396229.2	+	18	3355	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	TMC5_ENST00000564959.1_Missense_Mutation_p.R552Q|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Missense_Mutation_p.R817Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R869Q|TMC5_ENST00000561503.1_Missense_Mutation_p.R510Q|TMC5_ENST00000219821.5_Missense_Mutation_p.R623Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCTTTTCGAGGTCTGCCT	0.478000													7	149					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185959455	185959455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185959455C>A	ENST00000271588.4	+	22	3486	c.3257C>A	c.(3256-3258)cCt>cAt	p.P1086H	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.P1086H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1086	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATAAGCCTGTTGAGATC	0.453000													122	222					2.17066e-49	2.93498e-49	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:68139106G>A	ENST00000433211.1	-	12	1710	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	CTNNA3_ENST00000373744.4_Silent_p.S512S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	512					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378000													4	40					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86627205	86627205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86627205C>T	ENST00000456692.2	+	2	164	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RASA1_ENST00000274376.6_Missense_Mutation_p.R194C|RASA1_ENST00000512763.1_Missense_Mutation_p.R27C|RASA1_ENST00000506290.1_Missense_Mutation_p.R28C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	194	Poly-Gly.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R17C(1)|p.R194C(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCAGAAGAACGCCTCAGGCA	0.428000													27	57					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797132	1797132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1797132G>A	ENST00000250894.4	+	6	1004	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A283T|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	283					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGCCCTCGGCCGCCGTCAC	0.667000													24	36					0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124947386	124947386	+	Silent	SNP	C	C	T	rs146902663	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124947386C>T	ENST00000403796.2	+	4	577	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SLC37A2_ENST00000407458.1_Silent_p.N92N|SLC37A2_ENST00000298280.5_Silent_p.N92N|SLC37A2_ENST00000308074.4_Silent_p.N92N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	92					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCGTGGACAACGCCTTCCTCA	0.537000													20	25					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186522387	186522387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522387G>A	ENST00000392481.2	-	2	397	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RFC4_ENST00000433496.1_Missense_Mutation_p.P39L|RFC4_ENST00000296273.2_Missense_Mutation_p.P39L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	39					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.P39L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTCCACCCAGGGAACGGGTTT	0.398000													50	96					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47599055G>T	ENST00000533290.1	-	1	1286	c.572C>A	c.(571-573)gCc>gAc	p.A191D	KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166D|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166D|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215D|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182D			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542000													57	83					3.4597e-24	4.58709e-24	1	1	0
DKC1	1736	broad.mit.edu	37	X	154004499	154004499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154004499C>A	ENST00000369550.5	+	14	1586	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	459	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACGAGACTCCTCCAGCAGCT	0.493000									Congenital Dyskeratosis				21	27					1.50039e-11	1.87199e-11	1	1	0
SPTBN1	0	broad.mit.edu	37	2	54876139	54876139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54876139C>T	ENST00000333896.5	+	24	5360	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1672W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1672	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTAGCATGCGGCAGTCCAA	0.448000													11	12					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70968443	70968443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70968443C>T	ENST00000359655.4	+	15	2073	c.2013C>T	c.(2011-2013)caC>caT	p.H671H		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	671	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTGTGCACAATATCACTA	0.413000													26	68					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748045	19748045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748045C>A	ENST00000400113.3	-	5	1415	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCACGGAATCCACGCCCACCT	0.597000													35	61					5.59293e-11	6.93756e-11	1	1	0
NDRG4	65009	broad.mit.edu	37	16	58538058	58538058	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538058A>G	ENST00000394282.4	+	5	691	c.283_splice	c.e5-1	p.H95_splice	NDRG4_ENST00000258187.5_Splice_Site_p.H75_splice|NDRG4_ENST00000566192.1_Splice_Site_p.H43_splice|NDRG4_ENST00000563799.1_Splice_Site_p.D61_splice|NDRG4_ENST00000562999.1_Splice_Site_p.H43_splice|NDRG4_ENST00000394279.2_Splice_Site_p.H75_splice|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000356752.4_Splice_Site_p.H73_splice|NDRG4_ENST00000570248.1_Splice_Site_p.H43_splice|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Splice_Site_p.H61_splice	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	43					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTCTTTGCAGACAAACTATGC	0.577000													18	141					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640205	207640205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207640205G>A	ENST00000367057.3	+	2	582	c.393G>A	c.(391-393)tgG>tgA	p.W131*	CR2_ENST00000367059.3_Nonsense_Mutation_p.W131*|CR2_ENST00000367058.3_Nonsense_Mutation_p.W131*|CR2_ENST00000458541.2_Nonsense_Mutation_p.W131*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	131	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTCTGTTTGGTGTCAAGCAA	0.458000													4	64					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93953252	93953252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93953252C>T	ENST00000369303.4	-	17	3073	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	963	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V963V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAAACTCATCACATCCCTGA	0.353000													33	56					0	0	1	0	0
FABP7	2173	broad.mit.edu	37	6	123104897	123104897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123104897C>A	ENST00000368444.3	+	4	704	c.384C>A	c.(382-384)caC>caA	p.H128Q		NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	128	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CTGTTCGCCACTATGAGAAGG	0.403000													12	101					0.0202918	0.0209785	1	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74531942	74531942	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74531942A>C	ENST00000553458.1	-	10	1444	c.1346T>G	c.(1345-1347)aTc>aGc	p.I449S	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.I436S|CCDC176_ENST00000394009.3_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.I166S	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	449						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGTGGTGAAGATGGCAGTTCC	0.423000													4	73					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758262	77758262	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77758262C>T	ENST00000310942.4	+	5	1124	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	340					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGCTGGGTGCCCAGGCCCCC	0.682000													5	12					0	0	1	0	0
RP11-324H6.5	0	broad.mit.edu	37	10	51807990	51807990	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51807990G>A	ENST00000456967.1	-	0	1862					NR_038275.1																						CAACAGGGCAGATGCTTTCTT	0.448000													28	41					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049162	67049162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049162G>A	ENST00000308595.5	+	10	1079	c.789G>A	c.(787-789)acG>acA	p.T263T	ADRBK1_ENST00000526285.1_Silent_p.T263T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	263	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTTCCACACGCCAGACAAGC	0.657000													26	25					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843937	123843937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123843937C>A	ENST00000369005.1	+	4	2262	c.1922C>A	c.(1921-1923)gCt>gAt	p.A641D	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A641D|TACC2_ENST00000515273.1_Missense_Mutation_p.A641D|TACC2_ENST00000453444.2_Missense_Mutation_p.A641D|TACC2_ENST00000515603.1_Missense_Mutation_p.A641D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	641						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGGGTGCTGGGCACACG	0.607000													6	17					0.00116845	0.00124821	1	1	0
EGFR	1956	broad.mit.edu	37	7	55210006	55210006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55210006C>T	ENST00000275493.2	+	2	293	c.116C>T	c.(115-117)aCg>aTg	p.T39M	EGFR_ENST00000344576.2_Missense_Mutation_p.T39M|EGFR_ENST00000420316.2_Missense_Mutation_p.T39M|EGFR_ENST00000342916.3_Missense_Mutation_p.T39M|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000442591.1_Missense_Mutation_p.T39M|EGFR_ENST00000455089.1_Missense_Mutation_p.T39M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	39					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACAAGCTCACGCAGTTGGGC	0.408000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	146					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573827	28573827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573827G>A	ENST00000220562.4	+	3	1153	c.251G>A	c.(250-252)cGc>cAc	p.R84H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	84						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.R84H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597000													12	24					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665164	180665164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180665164C>T	ENST00000512805.1	-	6	1120	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	GNB2L1_ENST00000376817.4_Missense_Mutation_p.A194T|GNB2L1_ENST00000514455.1_Missense_Mutation_p.A22T|GNB2L1_ENST00000511900.1_Missense_Mutation_p.A190T|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	238					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542000													7	79					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3845045	3845045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3845045C>A	ENST00000428216.2	+	6	896	c.768C>A	c.(766-768)tcC>tcA	p.S256S	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.S115S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	256					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTCTCCTCCTCATCCCCTG	0.632000													22	28					2.21704e-12	2.7869e-12	1	1	0
PCNT	5116	broad.mit.edu	37	21	47836174	47836174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47836174C>T	ENST00000359568.5	+	30	6449	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGATGATTCCTGTGACGGAG	0.507000													16	15					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36136434	36136434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36136434C>T	ENST00000296603.4	-	6	1186	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	242						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAATTCTCTTCTGCATCT	0.373000													65	128					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022979	31022979	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31022979A>G	ENST00000375687.4	+	13	2888	c.2464A>G	c.(2464-2466)Aca>Gca	p.T822A	ASXL1_ENST00000306058.5_Missense_Mutation_p.T817A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	822					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T822fs*11(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGAGATGATACATTAGAGAA	0.502000			"""F, N, Mis"""		"""MDS, CMML"""								36	60					0	0	1	0	0
TMEM97	27346	broad.mit.edu	37	17	26653718	26653718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26653718G>A	ENST00000226230.6	+	3	575	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	TMEM97_ENST00000336687.6_Missense_Mutation_p.V37M|TMEM97_ENST00000583381.1_Missense_Mutation_p.V37M	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	144					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTTAACCCTTGTGTCTGTCTA	0.403000													4	28					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809090	24809090	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24809090C>A	ENST00000376451.2	+	6	1525	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	KIAA1217_ENST00000376454.3_Missense_Mutation_p.S739Y|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S704Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S422Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S704Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S659Y|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	739					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAAGGACTCCACGGCAGCC	0.542000													56	84					6.83704e-37	9.20759e-37	1	1	0
SNX7	51375	broad.mit.edu	37	1	99161245	99161245	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:99161245T>G	ENST00000370189.5	+	6	983	c.619T>G	c.(619-621)Tct>Gct	p.S207A	SNX7_ENST00000529992.1_Missense_Mutation_p.S216A|SNX7_ENST00000306121.3_Missense_Mutation_p.S271A			Q9UNH6	SNX7_HUMAN	sorting nexin 7	207					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGATAAAATATCTCAGAGAAT	0.318000													29	77					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41667964	41667964	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41667964A>G	ENST00000260359.6	+	9	1280	c.1016A>G	c.(1015-1017)aAg>aGg	p.K339R	NUSAP1_ENST00000560177.1_Missense_Mutation_p.K353R|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K353R|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K352R|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000559596.1_Missense_Mutation_p.K354R|NUSAP1_ENST00000558123.1_Intron	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	354	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTCTCCAATAAGAAACCAGTG	0.408000													8	62					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175301093	175301093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301093G>T	ENST00000392552.2	-	16	2602	c.2364C>A	c.(2362-2364)agC>agA	p.S788R	GPR155_ENST00000295500.4_Missense_Mutation_p.S788R|GPR155_ENST00000392551.2_Missense_Mutation_p.S788R|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	788	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATTAGCCAGCTCACCAGGT	0.488000													32	43					4.74835e-14	6.04786e-14	1	1	0
IGHV1-45	0	broad.mit.edu	37	14	106963001	106963001	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106963001G>T	ENST00000390621.2	-	0	338																											TGTGCTCATAGACCTGTCCCT	0.498000													61	107					1.72039e-30	2.30535e-30	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227924141	227924141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227924141G>A	ENST00000396625.3	-	28	2570	c.2363C>T	c.(2362-2364)cCg>cTg	p.P788L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P788L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	788	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P788Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGACATCCCGGATCACCTCT	0.532000													63	95					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113517137	113517137	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113517137C>A	ENST00000273398.3	+	12	1446	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	ATP6V1A_ENST00000538620.1_Silent_p.P413P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	446					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCATTTCCCCTCTGTCAATT	0.393000													17	170					1.78486e-19	2.33646e-19	1	1	0
SSH2	85464	broad.mit.edu	37	17	27959346	27959346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27959346C>A	ENST00000269033.3	-	15	2936	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E956*	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	929					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGCTCATTTCTGGTTCCTTG	0.488000													77	129					2.40982e-25	3.20332e-25	1	1	0
IDE	3416	broad.mit.edu	37	10	94214257	94214257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94214257G>A	ENST00000265986.6	-	25	3060	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	IDE_ENST00000371581.5_Silent_p.L447L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1002					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACAGTGGCAGACCACGCTTG	0.413000													43	64					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253823	47253823	+	Missense_Mutation	SNP	G	G	A	rs146113475	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47253823G>A	ENST00000296861.2	-	2	998	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	202					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTGGTCCCCGGCTTGATCAC	0.557000													9	42					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70758150	70758150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70758150C>A	ENST00000370944.4	-	9	1449	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S344I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	379					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTCTTCACTGAGATGTTC	0.333000													20	40					4.35082e-09	5.25983e-09	1	1	0
PCDHB4	0	broad.mit.edu	37	5	140503618	140503618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503618G>A	ENST00000194152.1	+	1	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAGGCCCAGGCCGA	0.701000													36	58					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107763606	107763606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107763606G>A	ENST00000388781.3	-	2	87	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q2*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	2					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTGAAATTGCATTCTTTTG	0.308000													53	8					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57267048	57267048	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57267048A>C	ENST00000264220.2	-	8	1053	c.916T>G	c.(916-918)Tgt>Ggt	p.C306G		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	306					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGCTGGCCACAACGGTATCTT	0.423000													9	85					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974251	49974251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49974251A>G	ENST00000555099.1	+	1	309	c.277A>G	c.(277-279)Aat>Gat	p.N93D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATCTTATTCAATGGATGTAT	0.408000													6	179					0	0	1	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777955	48777955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48777955C>A	ENST00000285243.6	-	2	526	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	86										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GATTTCTCTCCTTGATGTTAA	0.413000													29	87					4.15321e-07	4.86422e-07	1	1	0
DNPEP	23549	broad.mit.edu	37	2	220251081	220251081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251081T>C	ENST00000273075.4	-	5	606	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DNPEP_ENST00000373972.1_Missense_Mutation_p.E54G|DNPEP_ENST00000523282.1_Missense_Mutation_p.E137G	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	119					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCATAGGTCTCCACACCGAC	0.572000													8	84					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48081962	48081962	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48081962A>C	ENST00000264316.4	-	11	1225	c.1140T>G	c.(1138-1140)taT>taG	p.Y380*	TXK_ENST00000507351.1_Nonsense_Mutation_p.Y35*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	380	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCTCTCCAGATATTCCATTC	0.358000													5	201					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152729007	152729007	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152729007C>T	ENST00000360283.6	-	5	677	c.419_splice	c.e5-1	p.G140_splice	CACNB4_ENST00000397327.2_Splice_Site_p.G127_splice|CACNB4_ENST00000539935.1_Splice_Site_p.G174_splice|CACNB4_ENST00000534999.1_Splice_Site_p.G140_splice|CACNB4_ENST00000427385.1_Splice_Site_p.G156_splice|CACNB4_ENST00000201943.5_Splice_Site_p.G174_splice			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	174	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CACTTGATTTCCTAGGATATA	0.383000													27	44					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768220	121768220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768220G>A	ENST00000282561.3	+	2	384	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCATGTGCGCTTCTGGGTC	0.463000													22	26					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24164438	24164438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24164438G>A	ENST00000396671.2	-	11	1671	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	THRB_ENST00000356447.4_Silent_p.H441H|THRB_ENST00000280696.5_Silent_p.H456H|THRB_ENST00000416420.1_Silent_p.H441H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	441	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCACCTTCATGTGCAGGAAGC	0.488000													13	76					0	0	1	0	0
PSMA7	5688	broad.mit.edu	37	20	60718345	60718345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60718345G>A	ENST00000370873.4	-	1	141	c.15C>T	c.(13-15)cgC>cgT	p.R5R	PSMA7_ENST00000370858.3_Silent_p.R5R|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGTGATGGCGCGGTCGTAGC	0.736000													4	2					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293206	33293206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293206A>G	ENST00000280979.4	+	13	6357	c.6187A>G	c.(6187-6189)Atc>Gtc	p.I2063V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2063	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTAAGGAAATCATTGACAT	0.398000													27	34					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156518	55156518	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55156518C>T	ENST00000257290.5	+	22	3250	c.2919C>T	c.(2917-2919)gaC>gaT	p.D973D	FIP1L1_ENST00000507166.1_Silent_p.D733D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	973					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGAGTGACCATCCTGCTG	0.418000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			19	49					0	0	1	0	0
SLMO1	10650	broad.mit.edu	37	18	12429359	12429359	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12429359C>A	ENST00000592149.1	+	5	836	c.413C>A	c.(412-414)gCt>gAt	p.A138D	SLMO1_ENST00000587735.1_Missense_Mutation_p.A69D|SLMO1_ENST00000440960.1_Missense_Mutation_p.A159D|SLMO1_ENST00000336990.4_Missense_Mutation_p.A159D|SLMO1_ENST00000590956.1_Missense_Mutation_p.A69D			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	159	PRELI/MSF1.									endometrium(1)	1						GGGTGGGCTGCTATCGAGTGG	0.527000													16	17					1.15919e-05	1.31461e-05	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074366	106074366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074366G>A	ENST00000278071.2	-	3	1896	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ITPRIP_ENST00000358187.2_Missense_Mutation_p.R482C|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R482C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	482						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGCACCTTGCGGTTGCCGATG	0.622000													19	90					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451899	123451899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123451899C>T	ENST00000360772.3	-	12	1738	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.V454M|MYLK_ENST00000359169.1_Missense_Mutation_p.V454M|MYLK_ENST00000475616.1_Missense_Mutation_p.V454M			Q15746	MYLK_HUMAN	myosin light chain kinase	454	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTCCTCACGGGGGTGCCT	0.577000													11	14					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795492	33795492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33795492G>A	ENST00000261326.5	+	8	1370	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	450					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGTCATGTCTGTGGGGACAAT	0.468000													9	19					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557567	56557567	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56557567G>T	ENST00000323777.3	-	2	721	c.612C>A	c.(610-612)tcC>tcA	p.S204S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACACAGGAGTAAGGAG	0.448000													8	63					7.48243e-07	8.70085e-07	1	1	0
SNHG14	0	broad.mit.edu	37	15	25488588	25488588	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25488588G>T	ENST00000453082.2	+	0	2216					NR_003343.1																						TGAGACGGGAGGAAGACTTGT	0.602000													7	8					0.00198382	0.00210581	1	1	0
ACPL2	92370	broad.mit.edu	37	3	140997342	140997342	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140997342G>T	ENST00000508812.1	+	2	2118	c.211_splice	c.e2+1	p.G71_splice	ACPL2_ENST00000504264.1_Splice_Site_p.G63_splice|ACPL2_ENST00000393010.2_Splice_Site_p.G80_splice|ACPL2_ENST00000393007.1_Splice_Site_p.G64_splice|ACPL2_ENST00000286353.4_Splice_Site_p.G80_splice|ACPL2_ENST00000502783.1_Splice_Site_p.G42_splice|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	80						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGCATGGAAGGTAGGCCTGA	0.567000													4	60					0.014758	0.0152625	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158454662	158454662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158454662C>T	ENST00000355585.4	+	4	736	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	SYNJ2_ENST00000449859.2_Missense_Mutation_p.R170C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R221C|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R221C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	221	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCCACACCCGTGGCGTGAA	0.627000													13	19					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734288	42734288	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42734288T>C	ENST00000263805.4	-	7	4003	c.3677A>G	c.(3676-3678)gAa>gGa	p.E1226G	ZNF106_ENST00000565611.1_Missense_Mutation_p.E411G|ZNF106_ENST00000565380.1_Missense_Mutation_p.E454G	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTCCAGTAATTCCTTGGACAC	0.438000													14	140					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901708	16901708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901708G>A	ENST00000430580.2	-	20	3023	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	NBPF1_ENST00000287968.8_Silent_p.D77D|NBPF1_ENST00000432949.1_Silent_p.D170D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	712	NBPF 3.		H -> D (in dbSNP:rs3901680).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCTTCATCGTCATCGTTGT	0.433000													27	437					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50571708	50571708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50571708C>A	ENST00000547825.1	-	5	1782	c.513G>T	c.(511-513)gaG>gaT	p.E171D	LIMA1_ENST00000341247.4_Missense_Mutation_p.E473D|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314D|LIMA1_ENST00000552909.1_Missense_Mutation_p.E312D|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474D|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313D|LIMA1_ENST00000552491.1_Missense_Mutation_p.E170D	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	473					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTCCAAAATCTCTTCGTTTT	0.488000													6	135					1.12685e-05	1.27857e-05	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	111407	111407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:111407C>A	ENST00000262316.6	-	10	1513	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E457D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	457					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGAAGTTCTCCTGCTGCA	0.731000													6	18					0.0215528	0.0221649	1	1	0
PTPN21	11099	broad.mit.edu	37	14	88967684	88967684	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88967684G>A	ENST00000556564.1	-	7	900	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Silent_p.L206L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	206	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATGTACAGCATTTCAGCA	0.443000													8	107					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228755970	228755970	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228755970G>T	ENST00000373666.2	+	4	894		c.e4-1		DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000472604.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site					dynein assembly factor with WDR repeat domains 1																		TTTCACTGAAGGTTCTCAAAG	0.299000													6	74					3.59834e-05	4.01776e-05	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25671892	25671892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25671892G>A	ENST00000281589.3	+	1	1593	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	519					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCAACATCGTAATGCACAG	0.537000													18	46					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698503	169698503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169698503C>T	ENST00000333360.7	-	7	1053	c.914G>A	c.(913-915)aGg>aAg	p.R305K	SELE_ENST00000367782.4_Missense_Mutation_p.R305K|SELE_ENST00000367781.4_Missense_Mutation_p.R305K|SELE_ENST00000367776.1_Missense_Mutation_p.R305K|SELE_ENST00000367774.1_Missense_Mutation_p.R305K|SELE_ENST00000367779.4_Missense_Mutation_p.R305K|SELE_ENST00000367777.1_Missense_Mutation_p.R305K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R243K|SELE_ENST00000367775.1_Missense_Mutation_p.R243K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	305	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCGGACGGCCCTGCATGTCAC	0.498000													10	23					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371773	42371773	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42371773G>T	ENST00000290472.3	-	13	1373	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCGCCCACAGGTCCACAAAG	0.697000													5	7					0.014758	0.0152625	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139788214C>A	ENST00000303045.6	-	16	2244	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E600*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483000										HNSCC(7;0.00092)			26	62					9.39395e-14	1.19386e-13	1	1	0
GFRA2	2675	broad.mit.edu	37	8	21560348	21560348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21560348G>A	ENST00000524240.1	-	7	1837	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	GFRA2_ENST00000518077.1_Missense_Mutation_p.T263I|GFRA2_ENST00000517328.1_Missense_Mutation_p.T396I|GFRA2_ENST00000400782.4_Missense_Mutation_p.T291I	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	396						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GATGACACTGGTCCCCAAGCT	0.622000													13	33					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876089	2876089	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2876089T>C	ENST00000520002.1	-	53	8497	c.7942A>G	c.(7942-7944)Acg>Gcg	p.T2648A	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647A|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2648A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTGCACGTAAATATAGCT	0.483000													5	180					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32919925	32919925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32919925G>A	ENST00000589881.1	-	2	439	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZNF24_ENST00000399061.3_Nonsense_Mutation_p.R146*|ZNF24_ENST00000261332.6_Nonsense_Mutation_p.R146*			P17028	ZNF24_HUMAN	zinc finger protein 24	146					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCCGTTTTCGTCGACGGAGA	0.428000													33	41					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279715	50279715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50279715C>A	ENST00000284509.6	-	10	762	c.621G>T	c.(619-621)aaG>aaT	p.K207N	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.K207N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	207					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTATCTAACTTGTTGTTAG	0.403000													7	70					0.00198382	0.00210581	1	1	0
SLC37A4	2542	broad.mit.edu	37	11	118898339	118898339	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118898339C>A	ENST00000545985.1	-	6	1380	c.625_splice	c.e6+1	p.K208_splice	SLC37A4_ENST00000330775.7_Splice_Site_p.K207_splice|SLC37A4_ENST00000357590.5_Splice_Site_p.K208_splice|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Splice_Site_p.K135_splice	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	208					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGCTCACCCTTCTTGCCCT	0.577000													14	24					2.23348e-06	2.57349e-06	1	1	0
BAG5	9529	broad.mit.edu	37	14	104026381	104026381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104026381C>T	ENST00000445922.2	-	2	1367	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	BAG5_ENST00000299204.4_Missense_Mutation_p.G374E|BAG5_ENST00000337322.4_Missense_Mutation_p.G415E|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	374	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGACAAGTTTCCAAGGACGTT	0.468000													41	70					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56130001	56130001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56130001C>T	ENST00000508342.1	-	20	3804	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	NEDD4_ENST00000435532.3_Missense_Mutation_p.A750T|NEDD4_ENST00000506154.1_Missense_Mutation_p.A1153T|NEDD4_ENST00000338963.2_Missense_Mutation_p.A1097T			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1169	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTAAAAGCAGCCATTTGCTTC	0.328000													13	21					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33453088	33453088	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33453088G>T	ENST00000283629.3	-	5	1069	c.540C>A	c.(538-540)acC>acA	p.T180T	UBP1_ENST00000283628.5_Silent_p.T180T|UBP1_ENST00000447368.2_Silent_p.T180T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	180					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAAAGCAGAGGTGCGTTTTG	0.368000													10	105					7.48243e-07	8.70085e-07	1	1	0
PIWIL3	440822	broad.mit.edu	37	22	25115768	25115768	+	Missense_Mutation	SNP	C	C	A	rs142951647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25115768C>A	ENST00000332271.5	-	20	2895	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D709Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	827	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACTGTATCTGGGCTCAAG	0.358000													22	36					2.89027e-11	3.59474e-11	1	1	0
AC006293.3	0	broad.mit.edu	37	19	55221474	55221474	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55221474T>C	ENST00000413439.1	+	0	1254																											CATGACCTCGTCCAGGGCTCT	0.642000													3	36					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44044819	44044819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44044819C>T	ENST00000258704.3	+	4	762	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	209										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCATTTCTTCCTGGCTCTGTG	0.507000													80	212					0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95155416	95155416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95155416G>A	ENST00000262551.4	-	4	799	c.379C>T	c.(379-381)Cga>Tga	p.R127*	CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Nonsense_Mutation_p.R127*	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	127						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGTTGAATCGTGCGTAAAGA	0.358000													6	39					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110461365	110461365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110461365C>T	ENST00000506538.2	+	22	3151	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	WDR36_ENST00000513710.2_Nonsense_Mutation_p.R860*	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	860					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACAGAGCTGCGAAGCTTGTC	0.408000													28	26					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741496	98741496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741496G>A	ENST00000286067.2	+	1	456	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	117										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTAGGCCCCGGCCCTATGCC	0.473000													27	40					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372645	67372645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67372645C>A	ENST00000396623.3	+	13	1296	c.1265C>A	c.(1264-1266)gCt>gAt	p.A422D	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A374D|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	422					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGCCTAGCAGCTGTTGGTTAC	0.572000											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	72					9.31168e-06	1.06029e-05	1	1	0
MECOM	2122	broad.mit.edu	37	3	168840452	168840452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168840452C>A	ENST00000464456.1	-	5	1530	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MECOM_ENST00000472280.1_Missense_Mutation_p.K110N|MECOM_ENST00000468789.1_Missense_Mutation_p.K110N|MECOM_ENST00000460814.1_Missense_Mutation_p.K110N|MECOM_ENST00000433243.2_Missense_Mutation_p.K110N|MECOM_ENST00000392736.3_Missense_Mutation_p.K110N|MECOM_ENST00000264674.3_Missense_Mutation_p.K174N|MECOM_ENST00000494292.1_Missense_Mutation_p.K298N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTAAATGCCTTGGGACACT	0.398000													31	47					8.4185e-14	1.07063e-13	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519195	113519195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519195T>C	ENST00000284601.3	-	4	2020	c.1952A>G	c.(1951-1953)cAg>cGg	p.Q651R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	651					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTTTATGCTGTGGGCTATT	0.353000													7	204					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170634	42170634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42170634G>A	ENST00000320955.6	-	17	3603	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1126					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTGCTGCGCAGCTGAGCC	0.652000													3	13					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139285180	139285180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139285180C>T	ENST00000406875.3	-	11	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	HIPK2_ENST00000428878.2_Silent_p.Q779Q|HIPK2_ENST00000342645.6_Silent_p.Q806Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	806	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGACTGGTGCTGCTTACTCT	0.552000													16	43					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149437134	149437134	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149437134C>T	ENST00000286301.3	-	16	2445	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	718	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTCCACACCCTGGCTGGAGA	0.577000													17	26					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144775881	144775881	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144775881T>C	ENST00000532205.1	+	8	1196	c.297T>C	c.(295-297)caT>caC	p.H99H	ZNF707_ENST00000418203.2_Silent_p.H99H|ZNF707_ENST00000358656.4_Silent_p.H99H|ZNF707_ENST00000532158.1_Silent_p.H99H|ZNF707_ENST00000454097.1_Silent_p.H99H			Q96C28	ZN707_HUMAN	zinc finger protein 707	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGTGATCATCCAGCTTGGG	0.592000													10	17					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820102	113820102	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113820102G>T	ENST00000393200.2	+	5	477	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	IL36RN_ENST00000346807.3_Missense_Mutation_p.G106W	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	106						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCGGGACATGGGGCTCACCTC	0.612000													5	36					3.59834e-05	4.01776e-05	1	1	0
CPQ	10404	broad.mit.edu	37	8	97847315	97847315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97847315C>T	ENST00000220763.5	+	3	758	c.548C>T	c.(547-549)aCg>aTg	p.T183M		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	183					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.T183M(1)									TACTCAAGGACGGTGCAATAC	0.522000													17	39					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073770	20073770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20073770G>T	ENST00000351989.3	+	2	713	c.284G>T	c.(283-285)aGc>aTc	p.S95I	DGCR8_ENST00000407755.1_Missense_Mutation_p.S95I|DGCR8_ENST00000383024.2_Missense_Mutation_p.S95I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	95	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGCCACAGCCCGCGCACC	0.572000													11	37					0.00010058	0.000111121	1	1	0
KCNMB1	0	broad.mit.edu	37	5	169812421	169812421	+	Missense_Mutation	SNP	G	G	A	rs139716868	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169812421G>A	ENST00000274629.4	-	2	473	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11W|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCTCTCCCCGCTTCTGGGCC	0.542000													18	20					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48653989	48653989	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48653989T>G	ENST00000258648.2	-	6	656	c.631A>C	c.(631-633)Aga>Cga	p.R211R	MED4_ENST00000378586.1_Silent_p.R165R|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCTGGCAATCTTCCTGCTGCA	0.438000													4	67					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42289051	42289051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42289051G>A	ENST00000302904.4	-	10	1462	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	UBTF_ENST00000529383.1_Missense_Mutation_p.R324C|UBTF_ENST00000343638.5_Missense_Mutation_p.R287C|UBTF_ENST00000526094.1_Missense_Mutation_p.R287C|UBTF_ENST00000436088.1_Missense_Mutation_p.R324C|UBTF_ENST00000393606.3_Missense_Mutation_p.R287C|UBTF_ENST00000527034.1_Missense_Mutation_p.R287C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.R287C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	324					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCACCATGCGCTCTGTGCTG	0.602000													25	33					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14722263	14722263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14722263C>T	ENST00000403951.2	-	12	1369	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	DGKB_ENST00000407950.1_Missense_Mutation_p.C310Y|DGKB_ENST00000406247.3_Missense_Mutation_p.C317Y|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.C317Y|DGKB_ENST00000258767.5_Missense_Mutation_p.C317Y|DGKB_ENST00000399322.3_Missense_Mutation_p.C317Y|DGKB_ENST00000444700.2_Missense_Mutation_p.C310Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	317					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTTGGTTGGGCAGTTACCTTC	0.433000													41	94					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365287	29365287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29365287C>T	ENST00000383555.2	+	1	872	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGACCAGGACCGGATTGTTGC	0.468000													13	150					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3832730	3832730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3832730C>T	ENST00000309890.7	-	19	2904	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	ATP2A3_ENST00000397043.3_Silent_p.E918E|ATP2A3_ENST00000359983.3_Silent_p.E918E|ATP2A3_ENST00000397035.3_Silent_p.E918E|ATP2A3_ENST00000397041.3_Silent_p.E918E|ATP2A3_ENST00000352011.3_Silent_p.E918E|ATP2A3_ENST00000397039.1_Silent_p.E102E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	918					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGACTGGTTCTCCGAGACGC	0.682000													5	2					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237081	140237081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140237081C>T	ENST00000307360.5	+	1	1448	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A483V|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662000													24	68					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77734238	77734238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77734238G>A	ENST00000353172.5	-	1	102	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	NDUFC2-KCTD14_ENST00000530054.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	20						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACTGGGGCAGAGGGGTCTGG	0.716000													5	33					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708198	156708198	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156708198C>T	ENST00000361531.2	-	3	352	c.216G>A	c.(214-216)aaG>aaA	p.K72K	MRPL24_ENST00000368211.4_Silent_p.K72K			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	72	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGCCCTGCTTCCCGGCAT	0.577000													89	122					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84227394	84227394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84227394T>C	ENST00000405413.2	-	10	1304	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	HPSE_ENST00000513463.1_Missense_Mutation_p.N332D|HPSE_ENST00000311412.5_Missense_Mutation_p.N390D|HPSE_ENST00000512196.1_Intron	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	390					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAATGGTAGTTTCCTGCTCCA	0.443000													37	40					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95605029	95605029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95605029G>A	ENST00000343958.4	-	2	254	c.31C>T	c.(31-33)Cca>Tca	p.P11S	FGD6_ENST00000549499.1_Missense_Mutation_p.P11S|FGD6_ENST00000546711.1_Missense_Mutation_p.P11S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	11					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCCACTGGTGGCTTCTTT	0.378000													24	59					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868777	22868777	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22868777G>T	ENST00000302097.3	-	2	1430	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCACACGTAGGGCATTTCGCC	0.443000													30	69					9.04072e-19	1.18089e-18	1	1	0
CADPS	8618	broad.mit.edu	37	3	62631505	62631505	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62631505T>C	ENST00000383710.4	-	6	1566	c.1217A>G	c.(1216-1218)gAa>gGa	p.E406G	CADPS_ENST00000490353.2_Missense_Mutation_p.E406G|CADPS_ENST00000283269.9_Missense_Mutation_p.E406G|CADPS_ENST00000357948.3_Missense_Mutation_p.E406G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	406	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTTGGACTTCCATAATTAC	0.468000													7	77					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37617553	37617553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37617553G>T	ENST00000252011.3	+	5	476	c.443G>T	c.(442-444)aGa>aTa	p.R148I	DHX35_ENST00000373323.4_Missense_Mutation_p.R117I|DHX35_ENST00000373325.2_Missense_Mutation_p.R148I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	148	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCCACGAGAATTAAGGTA	0.493000													21	45					4.96729e-08	5.9048e-08	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63569916	63569916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63569916G>T	ENST00000374852.3	-	5	570	c.503C>A	c.(502-504)cCt>cAt	p.P168H	MTMR8_ENST00000453546.1_Missense_Mutation_p.P168H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	168	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACAGATTTAGGAACCACTAT	0.348000													8	114					0.00448238	0.00472561	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184295234	184295234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184295234C>T	ENST00000330394.2	+	6	1910	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	486	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTGGACTACGAGATGAAGT	0.602000													33	52					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1747293	1747293	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747293G>A	ENST00000254719.5	+	3	273		c.e3+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTCTATCCTGTGAGTATGGT	0.448000								Nucleotide excision repair (NER)					6	40					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575310	60575310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575310C>T	ENST00000252996.3	-	11	2656	c.2656_splice	c.e11-1	p.G886_splice		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	886					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGTTTTTTACCTAAAGGTCA	0.353000													37	49					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47389692	47389692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47389692C>T	ENST00000285039.7	-	29	4148	c.3849G>A	c.(3847-3849)ccG>ccA	p.P1283P	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.P424P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1283					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTAATGTTCGGCTCCTAGA	0.418000													18	34					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141551	126141551	+	Splice_Site	SNP	C	C	T	rs77785510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126141551C>T	ENST00000263578.5	+	2	379	c.306_splice	c.e2+1	p.T102_splice	FOXRED1_ENST00000532125.1_Splice_Site_p.T88_splice|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	102						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGGACCACACGGTGAGGTCT	0.552000													19	43					0	0	1	0	0
TSPAN19	144448	broad.mit.edu	37	12	85413440	85413440	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85413440T>A	ENST00000532498.2	-	6	495	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						GTCCACTTGGTTATATCTTCA	0.323000													22	50					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2498892	2498892	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2498892C>T	ENST00000397066.4	+	11	1219	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	377	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCCGGGAGGCCGTATGGCTCA	0.587000													57	63					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072886	31072886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31072886G>T	ENST00000538906.1	-	3	2147	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	ZNF668_ENST00000539836.3_Missense_Mutation_p.P478T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P455T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P478T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P455T|ZNF668_ENST00000417110.2_Missense_Mutation_p.G25V|ZNF668_ENST00000300849.4_Missense_Mutation_p.P455T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCTGCTGGAGGGTCCCCCAGC	0.692000													9	62					0.000442599	0.00048047	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65197870	65197870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65197870C>T	ENST00000247226.7	+	5	972	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H278Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	278	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGCATGAGCACGCGGTCCG	0.622000													22	31					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29185541	29185541	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29185541G>A	ENST00000234961.2	+	2	545	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	101					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACCAGCACGCTGCCTTTCC	0.517000													39	46					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564517	40564517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40564517C>A	ENST00000455577.2	+	6	1863	c.951C>A	c.(949-951)acC>acA	p.T317T	PAK6_ENST00000560346.1_Silent_p.T317T|PAK6_ENST00000542403.2_Silent_p.T317T|PAK6_ENST00000441369.1_Silent_p.T317T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.T317T|PAK6_ENST00000260404.4_Silent_p.T317T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	317	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGTGGGGACCTTCAGCCCTC	0.677000													6	78					0.00116845	0.00124821	1	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617534	111617534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617534C>T	ENST00000374667.3	-	1	1705	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTCACCCCCAGCGTAGTC	0.647000													14	17					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129245737	129245737	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129245737T>C	ENST00000280333.6	+	51	5539	c.5430T>C	c.(5428-5430)gaT>gaC	p.D1810D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1810	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCGTGGCAGATTACGGGAATT	0.582000													7	13					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778746	42778746	+	Silent	SNP	C	C	T	rs147227639	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42778746C>T	ENST00000432191.2	+	5	423	c.351C>T	c.(349-351)tcC>tcT	p.S117S	PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000549190.1_Silent_p.S190S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Silent_p.S172S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000337898.6_Silent_p.S117S|PPHLN1_ENST00000395580.3_Silent_p.S179S|PPHLN1_ENST00000395568.2_Silent_p.S172S|PPHLN1_ENST00000552761.1_Silent_p.S124S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	172					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCATAGAGTCCGTGCGTCCTG	0.507000													13	28					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50257163	50257163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50257163C>T	ENST00000357464.3	+	8	964	c.964C>T	c.(964-966)Cga>Tga	p.R322*	PAPD5_ENST00000436909.3_Nonsense_Mutation_p.R401*|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Nonsense_Mutation_p.R291*			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	322	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATTATATGGACGACACTTCAA	0.373000													18	29					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684459	33684459	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33684459T>C	ENST00000346562.2	+	2	196	c.122T>C	c.(121-123)tTc>tCc	p.F41S	NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000356141.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.F41S|NPAS3_ENST00000548645.1_Missense_Mutation_p.F41S|NPAS3_ENST00000341321.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551492.1_Missense_Mutation_p.F78S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACTTTGAGTTCTATGAATTG	0.458000													16	68					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242353	53242353	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242353T>C	ENST00000304620.4	-	1	425	c.362A>G	c.(361-363)cAg>cGg	p.Q121R		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	121	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAGCAAACTGGTTGTTGAG	0.537000													3	42					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19256341	19256341	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19256341C>A	ENST00000527884.1	-	5	948	c.716G>T	c.(715-717)gGa>gTa	p.G239V	E2F8_ENST00000250024.4_Missense_Mutation_p.G239V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	239					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGGGTGTCCATTTGGGCC	0.418000													24	33					2.79863e-10	3.44159e-10	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57996345	57996345	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996345C>T	ENST00000316770.2	-	1	45	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCCCACAGGCATGTCTTATG	0.478000													17	103					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843236	40843236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40843236G>A	ENST00000264638.4	+	14	2358	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	714	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGATCCAGCGCTGTGCCTGT	0.617000													54	93					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315032	48315032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48315032G>T	ENST00000435803.1	+	17	5793	c.5769G>T	c.(5767-5769)aaG>aaT	p.K1923N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1923					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCATAAGATATTACCGT	0.378000													72	147					1.34917e-44	1.82184e-44	1	1	0
TAF4	6874	broad.mit.edu	37	20	60575608	60575608	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575608C>A	ENST00000252996.3	-	10	2655	c.2656_splice	c.e10+1	p.G886_splice		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	886					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACCAACGTACCTATTTCTAAT	0.478000													7	73					0.000274275	0.000298791	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67314868	67314868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67314868G>T	ENST00000360461.5	+	3	3214	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E146*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	227					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCAGCCAGGAACTCATCCG	0.632000													4	37					3.59834e-05	4.01776e-05	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144930903	144930903	+	Missense_Mutation	SNP	C	C	T	rs139265814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144930903C>T	ENST00000529945.1	-	1	1245	c.806G>A	c.(805-807)gGa>gAa	p.G269E	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G269E|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1472					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCACACTTTCCAAGTTCCTT	0.478000			T	PDGFRB	MPD								12	144					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650155	55650155	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650155A>C	ENST00000339140.3	+	1	323	c.11A>C	c.(10-12)aAa>aCa	p.K4T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	4					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGACTTAAAACTAAAAGAC	0.433000													6	48					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116963006	116963006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116963006G>T	ENST00000265441.3	-	1	337	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	13					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGCAGAGGGAGCCAGAG	0.622000													19	39					1.01871e-10	1.25892e-10	1	1	0
ZNF57	126295	broad.mit.edu	37	19	2917641	2917641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2917641G>A	ENST00000306908.5	+	4	1170	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	ZNF57_ENST00000523428.1_Missense_Mutation_p.C309Y|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGAACACTGTGGGAAGGCT	0.448000													16	33					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8928048	8928048	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8928048T>A	ENST00000234590.4	-	5	428	c.310_splice	c.e5+1	p.K103_splice		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	103	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCACTCACATTTATTTTCTG	0.458000													231	375					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50677823	50677823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50677823G>A	ENST00000446044.1	+	5	842	c.246G>A	c.(244-246)cgG>cgA	p.R82R	MAPKAPK3_ENST00000357955.2_Silent_p.R82R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	82	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCAAGGCCCGGCAGGAGGTAG	0.532000													14	124					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562000													19	15					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129290550	129290550	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129290550G>T	ENST00000287295.3	-	2	364	c.134C>A	c.(133-135)cCt>cAt	p.P45H	AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	45					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GAGTTCTAGAGGAACATGCCA	0.358000													14	222					1.02788e-11	1.28409e-11	1	1	0
MED12	9968	broad.mit.edu	37	X	70349570	70349570	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349570A>G	ENST00000333646.6	+	27	3931	c.3732A>G	c.(3730-3732)ggA>ggG	p.G1244G	MED12_ENST00000374102.1_Silent_p.G1244G|MED12_ENST00000374080.3_Silent_p.G1244G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1244					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTGACAGGAGGAACAGAAG	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120818756	120818756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120818756C>T	ENST00000369144.3	-	11	1724	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T	EIF3A_ENST00000541549.1_Missense_Mutation_p.A499T|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	533					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCAAGTGCTTTTGCAAGT	0.453000													29	81					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36299618	36299618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36299618C>T	ENST00000373210.3	+	12	1652	c.1407C>T	c.(1405-1407)atC>atT	p.I469I		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TGCGTAAAATCTCTAAGGATG	0.408000													34	48					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75187036	75187036	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75187036T>G	ENST00000336926.6	-	16	1529	c.1503A>C	c.(1501-1503)caA>caC	p.Q501H	HIP1_ENST00000434438.2_Missense_Mutation_p.Q501H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	501					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGGGCTTGTCTGGCCA	0.532000			T	PDGFRB	CMML								8	152					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232325433	232325433	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232325433T>C	ENST00000322723.4	-	4	998	c.758A>G	c.(757-759)gAt>gGt	p.D253G		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	253	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcatcttcatcatcttcgtc	0.428000													33	66					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24842950	24842950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842950C>T	ENST00000413692.2	+	6	1942	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	NFATC4_ENST00000422617.3_Missense_Mutation_p.R525W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R72W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R569W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R537W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467W	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R537R(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582000													39	55					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934302	81934302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81934302G>A	ENST00000359376.3	+	14	1493	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	427	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTATTTGGCGACCTGCTGTT	0.612000													15	23					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184587440	184587440	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184587440G>T	ENST00000334690.6	+	3	437	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.G79W	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	79																	CATTCCTAAAGGGATCTTAAA	0.458000													40	68					1.52319e-26	2.02909e-26	1	1	0
CCKBR	887	broad.mit.edu	37	11	6292066	6292066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6292066G>A	ENST00000525462.1	+	4	847	c.844G>A	c.(844-846)Gag>Aag	p.E282K	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	242					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATCTGGGCGAGGCGGAGCT	0.622000													21	14					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25639315	25639315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25639315C>T	ENST00000262394.2	+	9	1502	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	WSB1_ENST00000348811.2_Nonsense_Mutation_p.R250*	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	396	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATGTCAATCCGAAGAGTGAT	0.473000													134	222					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16461639	16461639	+	Missense_Mutation	SNP	C	C	T	rs141123184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16461639C>T	ENST00000358432.5	-	7	1628	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	492	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCAGGGTCACGGAGAAACCC	0.682000													56	107					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98652797	98652797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98652797G>A	ENST00000261574.5	+	13	1240	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T	IPO5_ENST00000539640.1_Missense_Mutation_p.A211T|IPO5_ENST00000490680.1_Missense_Mutation_p.A336T	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	336	Ran-GTP binding (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTTAGCAATGCAGTTGCAGG	0.368000													6	46					0	0	1	0	0
LILRB4	0	broad.mit.edu	37	19	55175251	55175251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55175251C>A	ENST00000391736.1	+	5	425	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	LILRB4_ENST00000270452.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000430952.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.S37Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCAGGCTCTGTGATCAGC	0.607000													25	44					4.26978e-12	5.35206e-12	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62071046	62071046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62071046T>C	ENST00000354587.3	-	6	1008	c.832A>G	c.(832-834)Att>Gtt	p.I278V	KCNQ2_ENST00000344425.5_Missense_Mutation_p.I278V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.I278V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I278V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	278					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGCCAATGGTGGTCAGC	0.642000													18	27					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4148305	4148305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148305G>A	ENST00000300738.5	+	14	1715	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	RRM1_ENST00000537197.1_Missense_Mutation_p.G166E|RRM1_ENST00000534285.1_Missense_Mutation_p.G282E|RRM1_ENST00000423050.2_Missense_Mutation_p.G407E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	504					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTGGAATTGGGGTACAAGGT	0.388000													33	61					0	0	1	0	0
TBCA	6902	broad.mit.edu	37	5	77004141	77004141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:77004141C>A	ENST00000306388.6	-	2	114	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TBCA_ENST00000380377.4_Nonsense_Mutation_p.E29*|TBCA_ENST00000520361.1_Nonsense_Mutation_p.E29*|TBCA_ENST00000522370.1_Nonsense_Mutation_p.E5*|TBCA_ENST00000518338.2_Nonsense_Mutation_p.E29*|TBCA_ENST00000517679.1_Nonsense_Mutation_p.E40*|TBCA_ENST00000520039.1_Intron			O75347	TBCA_HUMAN	tubulin folding cofactor A	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284000													4	28					1	1	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58121478	58121478	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121478A>G	ENST00000184956.6	-	20	3008	c.2992T>C	c.(2992-2994)Tcc>Ccc	p.S998P	HEATR6_ENST00000585976.1_Missense_Mutation_p.S886P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	998							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGGCCTGGGAGGTCCATGGG	0.532000													7	71					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231067615	231067615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231067615C>T	ENST00000366661.4	-	10	999	c.992G>A	c.(991-993)gGc>gAc	p.G331D	TTC13_ENST00000414259.1_Missense_Mutation_p.G278D|TTC13_ENST00000366662.4_Missense_Mutation_p.G278D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	331							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCAAAATTGCCCAGTTCTCT	0.398000													24	53					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76287327	76287327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76287327G>T	ENST00000357063.3	+	3	1495	c.235G>T	c.(235-237)Gag>Tag	p.E79*	LMO7_ENST00000377534.3_Nonsense_Mutation_p.E79*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E79*			Q8WWI1	LMO7_HUMAN	LIM domain 7	79	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAGTAACAGAGAAGAATTT	0.303000													5	18					0.000602214	0.000649039	1	1	0
CR1	1378	broad.mit.edu	37	1	207753903	207753903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753903C>T	ENST00000367049.4	+	31	5161	c.5161C>T	c.(5161-5163)Cta>Tta	p.L1721L	CR1_ENST00000400960.2_Silent_p.L1271L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.L1271L|CR1_ENST00000367053.1_Silent_p.L1271L|CR1_ENST00000367051.1_Silent_p.L1271L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1271	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCGTGTGCTATTTCCACT	0.438000													90	189					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27475580	27475580	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:27475580T>C	ENST00000295736.5	-	6	648	c.578A>G	c.(577-579)aAc>aGc	p.N193S	SLC4A7_ENST00000446700.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N198S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N193S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N202S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	193						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCTATCATGTTGTCTAATAC	0.338000													26	22					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92729282	92729282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92729282C>T	ENST00000370360.3	-	15	1388	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	GLMN_ENST00000534881.1_Missense_Mutation_p.R422H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	436					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTTGTTACGTGTTCTCTG	0.343000									Multiple Glomus Tumors (of the Skin), Familial				98	84					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136899	66136899	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66136899C>T	ENST00000357440.2	-	3	444	c.216G>A	c.(214-216)acG>acA	p.T72T	SLC29A2_ENST00000544554.1_Silent_p.T72T|SLC29A2_ENST00000546034.1_Silent_p.T72T|SLC29A2_ENST00000311161.7_Silent_p.T72T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACAGCAGCGTCACCCAAT	0.647000													69	133					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116733035	116733035	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116733035C>G	ENST00000375300.1	-	16	1973	c.1968G>C	c.(1966-1968)gaG>gaC	p.E656D	SIK3_ENST00000446921.2_Missense_Mutation_p.E656D|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.E598D|SIK3_ENST00000434315.2_Missense_Mutation_p.E497D|SIK3_ENST00000375288.1_Missense_Mutation_p.S30T|SIK3_ENST00000292055.4_Missense_Mutation_p.E598D			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	598	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCAGCTGCTCACACTCCT	0.507000													53	78					0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8363388	8363388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8363388C>A	ENST00000334527.7	+	8	1051	c.854C>A	c.(853-855)tCc>tAc	p.S285Y	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.S285Y|NDEL1_ENST00000299734.7_Missense_Mutation_p.S285Y	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	285	Interaction with CENPF.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TCACGAAAATCCTATATTTCA	0.413000													10	121					4.68919e-08	5.58064e-08	1	1	0
CCDC113	29070	broad.mit.edu	37	16	58292308	58292308	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58292308G>T	ENST00000219299.4	+	4	506	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CCDC113_ENST00000443128.2_Missense_Mutation_p.V89F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	143						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATGGAGTGAAGTTTCGAGAGA	0.413000													36	59					1.836e-18	2.39396e-18	1	1	0
NR3C1	2908	broad.mit.edu	37	5	142662143	142662143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142662143G>T	ENST00000343796.2	-	8	3164	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y	NR3C1_ENST00000231509.3_Missense_Mutation_p.S725Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S724Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S698Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S725Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	724	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTCATGCATAGAATCCAAGAG	0.393000													23	48					3.28513e-13	4.1605e-13	1	1	0
DCLRE1A	9937	broad.mit.edu	37	10	115601313	115601313	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115601313G>A	ENST00000361384.2	-	7	3589	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A891V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	891					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAAACATCAGCAATGGCTAT	0.328000								Other identified genes with known or suspected DNA repair function					36	54					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169689860	169689860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169689860C>T	ENST00000046794.5	-	12	1419	c.804G>A	c.(802-804)tcG>tcA	p.S268S	LCP2_ENST00000521416.1_Silent_p.S63S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	268					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCGCTGGAATCGAGGGCTGCA	0.423000													22	41					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48678801	48678801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48678801C>T	ENST00000544264.1	-	34	9276	c.8996G>A	c.(8995-8997)aGt>aAt	p.S2999N	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2994N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2994					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCATCCCCACTGGTCAGGGC	0.662000													4	76					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102005653	102005653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005653C>A	ENST00000354105.4	-	9	953	c.867G>T	c.(865-867)caG>caT	p.Q289H	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q44H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	289							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CAAAGAAAAACTGACAGGCTG	0.413000													23	49					1.22574e-08	1.47244e-08	1	1	0
DHX38	9785	broad.mit.edu	37	16	72141442	72141442	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141442A>C	ENST00000268482.3	+	20	3313	c.2804A>C	c.(2803-2805)aAc>aCc	p.N935T	DHX38_ENST00000536867.1_Missense_Mutation_p.N247T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	935					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCCTGGACAACACAGGTGAG	0.592000													13	41					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710533	233710533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710533G>T	ENST00000373566.3	+	27	3660	c.3463G>T	c.(3463-3465)Gat>Tat	p.D1155Y	GIGYF2_ENST00000409451.3_Missense_Mutation_p.D1154Y|GIGYF2_ENST00000409196.3_Missense_Mutation_p.D1127Y|GIGYF2_ENST00000409480.1_Missense_Mutation_p.D1155Y|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D1133Y|GIGYF2_ENST00000409547.1_Missense_Mutation_p.D1133Y			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1133					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAAAGCCCAAGATGGATTTAC	0.423000													32	53					6.04164e-23	7.98701e-23	1	1	0
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458000													8	123					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123067323	123067323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123067323G>A	ENST00000333479.7	+	34	3231	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1018					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCGTGAGCAGCACATTAAAG	0.483000													11	17					0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18977277	18977277	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18977277T>G	ENST00000339775.6	-	3	365	c.212A>C	c.(211-213)gAt>gCt	p.D71A	BTG3_ENST00000348354.6_Missense_Mutation_p.D71A	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	71					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCAGGACATCAGGATCAAC	0.423000													13	41					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21856613	21856613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21856613C>A	ENST00000434536.1	+	23	2569	c.2467C>A	c.(2467-2469)Ctg>Atg	p.L823M	XPO7_ENST00000252512.9_Missense_Mutation_p.L814M|XPO7_ENST00000433566.4_Missense_Mutation_p.L815M			Q9UIA9	XPO7_HUMAN	exportin 7	814					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAATCGCATCCTGACACTAGG	0.468000													5	152					0.014758	0.0152625	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4936683	4936683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4936683G>T	ENST00000322013.3	-	1	239	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGAGCCAGCATGGACAGG	0.478000													12	32					2.80697e-09	3.39963e-09	1	1	0
CUX2	23316	broad.mit.edu	37	12	111785894	111785894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785894C>A	ENST00000261726.6	+	22	4380	c.4226C>A	c.(4225-4227)tCt>tAt	p.S1409Y		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1409	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCATGATGTCTGTGTCACCT	0.627000													4	33					0.150653	0.152692	1	1	0
NPAT	4863	broad.mit.edu	37	11	108068110	108068110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108068110C>T	ENST00000278612.8	-	2	180	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	25	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATAAAAGTCTGGCAGGTAG	0.313000													38	85					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635742	39635742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635742C>T	ENST00000246639.2	-	3	610	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	KRT35_ENST00000393989.1_Missense_Mutation_p.V190M			Q92764	KRT35_HUMAN	keratin 35	190	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGCAGGGACACCTCCGTCTCA	0.587000													29	40					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161134625	161134625	+	Splice_Site	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161134625A>T	ENST00000368002.3	+	12	1762	c.1384_splice	c.e12-1	p.H462_splice	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Splice_Site_p.H462_splice|USP21_ENST00000289865.8_Splice_Site_p.H462_splice	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	462					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGCTTAGATCTGAATCGA	0.532000													21	54					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	486879	486879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486879G>A	ENST00000280886.6	-	4	413	c.326C>T	c.(325-327)gCa>gTa	p.A109V	DIP2C_ENST00000381496.3_Missense_Mutation_p.A2V|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	109						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATAGGCACTGCCATCTTCCG	0.612000													11	28					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4050046	4050046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4050046C>T	ENST00000337659.6	+	9	2207	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R689*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	703	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAATGTTGTACGAGCCAGAGA	0.398000													21	38					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121605290	121605290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121605290G>T	ENST00000328963.5	+	7	688		c.e7-1		P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000546057.1_Splice_Site|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000443520.3_Splice_Site			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7							integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATCCTTCAGGGCGGAATAA	0.512000													7	97					0.000157383	0.00017284	1	1	0
RBM6	10180	broad.mit.edu	37	3	50005258	50005258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005258G>T	ENST00000443081.1	+	3	923	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D134Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	134					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACCACCTATGGACTATAGGGG	0.478000													46	84					1.23103e-26	1.64014e-26	1	1	0
SEMA7A	8482	broad.mit.edu	37	15	74708206	74708206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74708206G>T	ENST00000261918.4	-	8	1470	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	SEMA7A_ENST00000543145.2_Missense_Mutation_p.L294M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.L143M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	308	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TCAGGGAGCAGGAAGACGTCT	0.567000													14	25					6.72482e-11	8.32712e-11	1	1	0
CHD3	1107	broad.mit.edu	37	17	7802784	7802784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7802784C>T	ENST00000380358.4	+	15	2645	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	CHD3_ENST00000358181.4_Missense_Mutation_p.R823W|CHD3_ENST00000330494.7_Missense_Mutation_p.R823W	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	823	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGGACAGCCGGGCCATCAT	0.498000													63	113					0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6978315	6978315	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6978315G>A	ENST00000229270.4	+	3	740	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TPI1_ENST00000488464.2_Missense_Mutation_p.E16K|TPI1_ENST00000535434.1_Missense_Mutation_p.E16K|TPI1_ENST00000396705.5_Missense_Mutation_p.E98K	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	98					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGGCACTCAGAGAGAAGGCA	0.522000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	107					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429011	48429011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48429011G>A	ENST00000224605.2	-	2	1140	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	292					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGTGGCCTGCGCGGCTCGGCG	0.726000													6	8					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56400023	56400023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56400023T>A	ENST00000370754.5	-	63	16744	c.16745A>T	c.(16744-16746)gAg>gTg	p.E5582V	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E5404V|DST_ENST00000421834.2_Missense_Mutation_p.E3316V|DST_ENST00000370788.2_Missense_Mutation_p.E3316V|DST_ENST00000244364.6_Missense_Mutation_p.E2990V|DST_ENST00000361203.3_Missense_Mutation_p.E5402V|DST_ENST00000446842.2_Missense_Mutation_p.E5078V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5402					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGCAGGGACTCCAGGGCATC	0.552000													6	78					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574489	41574489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574489G>T	ENST00000263253.7	+	31	7993	c.6774G>T	c.(6772-6774)caG>caT	p.Q2258H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2258					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGTCTACAGGCCTATCAGC	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				18	25					1.33834e-09	1.62941e-09	1	1	0
CNOT11	55571	broad.mit.edu	37	2	101881457	101881457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101881457G>A	ENST00000289382.3	+	4	1146	c.983G>A	c.(982-984)cGa>cAa	p.R328Q		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GAGATCAAACGAATAATGGCC	0.418000													26	28					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080356	115080356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115080356G>T	ENST00000537058.1	-	8	1036	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.P339H|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P339H			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	339				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tgttgtggGAGGAGGGATAGT	0.443000													7	50					0.00198382	0.00210581	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110456104	110456104	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110456104C>A	ENST00000378402.5	+	37	4868	c.4764C>A	c.(4762-4764)ggC>ggA	p.G1588G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACATGGCTTTAGTAATC	0.328000										HNSCC(38;0.096)			22	40					5.45024e-15	6.98109e-15	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23812185	23812185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23812185A>C	ENST00000314520.3	+	1	1732	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	419						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTTTACAAGCATGAATAC	0.522000													4	62					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40035600	40035600	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40035600A>G	ENST00000372857.3	-	4	1370	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PABPC4_ENST00000372856.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372862.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372858.3_Missense_Mutation_p.V193A|PABPC4_ENST00000529216.1_5'UTR|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	193	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGATATAAACATTGGTGAA	0.428000													43	56					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370173	17370173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17370173C>T	ENST00000252597.3	-	7	1144	c.971G>A	c.(970-972)cGc>cAc	p.R324H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R260H	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	324							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCTTCACAGCGGCCCTTGTA	0.562000													23	27					0	0	1	0	0
SAC3D1	29901	broad.mit.edu	37	11	64811906	64811906	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64811906G>A	ENST00000398846.1	+	2	1173	c.784G>A	c.(784-786)Gct>Act	p.A262T	SAC3D1_ENST00000531072.1_Missense_Mutation_p.A262T|SAC3D1_ENST00000530213.1_3'UTR	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						GGCCCGCTTCGCTCGTGCCTT	0.657000													4	64					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138264967	138264967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138264967G>A	ENST00000302763.7	+	14	2022	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	CTNNA1_ENST00000355078.5_Silent_p.E541E|CTNNA1_ENST00000540387.1_Silent_p.E274E|CTNNA1_ENST00000518825.1_Silent_p.E644E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	644					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACTTTGAGACAGAAGATT	0.582000													31	51					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15584454	15584454	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15584454A>T	ENST00000427411.1	-	17	2252	c.2036T>A	c.(2035-2037)aTc>aAc	p.I679N	ACE2_ENST00000252519.3_Missense_Mutation_p.I679N	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	679					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATTAAAGGAGATTCTTGGTTT	0.383000													80	126					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56140721	56140721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56140721G>T	ENST00000434526.2	+	3	344	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	SUMF2_ENST00000395435.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.E105*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.E86*|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.E86*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.E105*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	86						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCGGACAGAAGCTGAGAT	0.483000													4	48					5.9392e-07	6.91975e-07	1	1	0
ELN	2006	broad.mit.edu	37	7	73477524	73477524	+	Missense_Mutation	SNP	G	G	A	rs140425210	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73477524G>A	ENST00000252034.7	+	27	2227	c.1828G>A	c.(1828-1830)Ggt>Agt	p.G610S	ELN_ENST00000380575.4_Missense_Mutation_p.G581S|ELN_ENST00000380562.4_Missense_Mutation_p.G616S|ELN_ENST00000320492.7_Missense_Mutation_p.G529S|ELN_ENST00000380553.4_Missense_Mutation_p.G474S|ELN_ENST00000357036.5_Missense_Mutation_p.G615S|ELN_ENST00000380584.4_Missense_Mutation_p.G562S|ELN_ENST00000320399.6_Missense_Mutation_p.G643S|ELN_ENST00000458204.1_Missense_Mutation_p.G600S|ELN_ENST00000380576.5_Missense_Mutation_p.G591S|ELN_ENST00000445912.1_Missense_Mutation_p.G610S|ELN_ENST00000414324.1_Missense_Mutation_p.G586S|ELN_ENST00000429192.1_Missense_Mutation_p.G596S|ELN_ENST00000358929.4_Missense_Mutation_p.G678S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	672	Ala-rich.		G -> R (in dbSNP:rs17855988).		blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGGGCTCTCGGTGGAGTAGG	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						12	11					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141203	63141203	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63141203T>C	ENST00000279178.3	+	3	843	c.594T>C	c.(592-594)atT>atC	p.I198I	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	198					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTCCTCATTTACTGCTCAC	0.458000													7	135					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092805	34092805	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34092805A>G	ENST00000397527.1	+	30	7328	c.6608A>G	c.(6607-6609)gAg>gGg	p.E2203G	CEP250_ENST00000342580.4_Missense_Mutation_p.E2147G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2203					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607000													4	15					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502548	32502548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:32502548C>T	ENST00000286827.3	-	26	4499	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483000													76	163					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286883	33286883	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33286883C>A	ENST00000374542.5	-	7	2258	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	DAXX_ENST00000414083.2_Missense_Mutation_p.R610M|DAXX_ENST00000266000.6_Missense_Mutation_p.R685M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	685	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAGTCCACCCTCGTGGAGGA	0.602000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								11	84					0.0135373	0.0140872	1	1	0
FBP1	2203	broad.mit.edu	37	9	97380054	97380054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97380054C>A	ENST00000415431.1	-	4	651	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FBP1_ENST00000375326.4_Missense_Mutation_p.R141I	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	141					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTATAGATGCC	0.443000													12	22					3.07112e-06	3.52574e-06	1	1	0
HLTF	6596	broad.mit.edu	37	3	148759321	148759321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148759321C>T	ENST00000310053.5	-	20	2525	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	HLTF_ENST00000494055.1_Missense_Mutation_p.V778I|HLTF_ENST00000465259.1_Missense_Mutation_p.V777I|HLTF_ENST00000392912.2_Missense_Mutation_p.V778I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	778					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTACAAAATACATGTGCACAA	0.378000													43	45					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197655	132197655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197655G>A	ENST00000378673.2	-	3	1857	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GDF9_ENST00000296875.2_Missense_Mutation_p.P331S			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCCCAAGGGCTTCTTCAAT	0.483000													12	73					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31324527	31324527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31324527G>T	ENST00000580599.1	+	5	769	c.360G>T	c.(358-360)caG>caT	p.Q120H	SPACA3_ENST00000269053.3_Missense_Mutation_p.Q189H|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.Q86H			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	189					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGAGCCTCAGGGTCTGGGTT	0.507000													70	87					7.33394e-39	9.88681e-39	1	1	0
VPS11	55823	broad.mit.edu	37	11	118944660	118944660	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118944660C>T	ENST00000300793.6	+	8	1276	c.1235_splice	c.e8+1	p.R412_splice	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	413					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCAATATATCCGGTCAGTCTG	0.527000													9	11					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10777339	10777339	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10777339C>A	ENST00000361367.2	+	4	925	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	167					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAGCCCTTCTTGGTAAGTG	0.398000													9	96					0.00829132	0.00869385	1	1	0
CEP290	80184	broad.mit.edu	37	12	88514803	88514803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514803C>T	ENST00000552810.1	-	14	1673	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.A444T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	444					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCTTCAGAGCCTCAACTAAT	0.368000													4	32					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647000													16	25					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888446	3888446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888446C>T	ENST00000319331.3	+	2	2882	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	707						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAACCCAGGTCGACACATCCA	0.448000													13	15					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452651	9452651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9452651G>A	ENST00000393883.2	+	6	1172	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	ZNF559_ENST00000587557.1_Missense_Mutation_p.C239Y|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.C175Y|ZNF559_ENST00000538743.1_Missense_Mutation_p.C95Y|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CATCTTGTTTGCAAGAAAACT	0.388000													6	156					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284702	46284702	+	Missense_Mutation	SNP	C	C	T	rs150546807		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284702C>T	ENST00000256413.3	+	8	1292	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	CTIF_ENST00000382998.4_Missense_Mutation_p.R333C	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	333					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TCTTCCCGAGCGCATCGGGGA	0.557000													26	217					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40714858	40714858	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40714858C>A	ENST00000393818.2	+	1	674	c.218C>A	c.(217-219)gCt>gAt	p.A73D	COASY_ENST00000420359.1_Missense_Mutation_p.A73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.A102D|COASY_ENST00000421097.2_Missense_Mutation_p.A73D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	73					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CACCTCTATGCTGGCGCCGAC	0.607000													46	75					8.20599e-20	1.07503e-19	1	1	0
CUL2	8453	broad.mit.edu	37	10	35324208	35324208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35324208G>A	ENST00000374748.1	-	11	1207	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CUL2_ENST00000374749.3_Silent_p.Y298Y|CUL2_ENST00000602371.1_Silent_p.Y241Y|CUL2_ENST00000537177.1_Silent_p.Y317Y|CUL2_ENST00000374746.1_Silent_p.Y298Y|CUL2_ENST00000374742.1_Silent_p.Y298Y|CUL2_ENST00000374751.3_Silent_p.Y298Y			Q13617	CUL2_HUMAN	cullin 2	298					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GGAGTAAGACGTACATATTTG	0.428000													6	59					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144878296	144878296	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144878296C>A	ENST00000367545.3	+	49	7138	c.7138C>A	c.(7138-7140)Ctg>Atg	p.L2380M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2380					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCTCAGATACTGCTTCAAGA	0.443000													6	40					0.000274275	0.000298791	1	1	0
PALLD	23022	broad.mit.edu	37	4	169432880	169432880	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169432880C>A	ENST00000261509.6	+	2	436	c.225C>A	c.(223-225)ctC>ctA	p.L75L	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Silent_p.L75L	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	75					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGCAAGCCTCTGTGAACATC	0.517000									Pancreatic Cancer, Familial Clustering of				5	38					0.000602214	0.000649039	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160033805	160033805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160033805G>A	ENST00000327245.5	-	19	3973	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1043					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGTCTCGCACCAGCTTG	0.522000													5	47					0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427291	54427291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54427291G>A	ENST00000312492.2	+	1	655	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	129					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGGGCAGCCCGCCGGACTGAG	0.622000													5	6					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7094074	7094074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7094074C>T	ENST00000399510.2	-	22	3109	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	DLG4_ENST00000399506.2_Missense_Mutation_p.D710N|DLG4_ENST00000302955.6_Missense_Mutation_p.D707N	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	710					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCTGAGAGGTCCTCGATGACA	0.622000													10	60					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211222	37211222	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37211222C>A	ENST00000585696.1	+	3	2733	c.1503C>A	c.(1501-1503)ccC>ccA	p.P501P	ZNF567_ENST00000588311.1_Silent_p.P501P|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.P532P|ZNF567_ENST00000360729.4_Silent_p.P501P|ZNF567_ENST00000392163.2_Silent_p.P501P			Q8N184	ZN567_HUMAN	zinc finger protein 567	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAACCCTATGTTTGTA	0.393000													7	68					0.000157383	0.00017284	1	1	0
KLHL7	55975	broad.mit.edu	37	7	23205476	23205476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23205476C>T	ENST00000322231.7	+	9	1520	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	KLHL7_ENST00000542558.1_Silent_p.L141L|KLHL7_ENST00000539124.1_Silent_p.L290L|KLHL7_ENST00000409689.1_Silent_p.L318L|KLHL7_ENST00000545443.1_Silent_p.L344L|KLHL7_ENST00000339077.4_Silent_p.L366L			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	366						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTCGAAACTGGGTCCTCC	0.438000													16	59					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44576322	44576322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576322G>A	ENST00000372409.3	+	17	2407	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	681	Poly-Ser.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTTCCTCATCGTCCTCCTCGG	0.667000													17	11					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30864137	30864137	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30864137C>A	ENST00000378928.1	-	3	255	c.209G>T	c.(208-210)aGa>aTa	p.R70I	TAB3_ENST00000288422.2_Intron|TAB3_ENST00000378933.1_Intron|TAB3_ENST00000378932.2_Intron|TAB3_ENST00000378930.3_Intron			Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	0					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						catctctaatctggtgagttg	0.358000													8	10					0.361761	0.363227	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151108924	151108924	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151108924C>A	ENST00000341697.3	-	12	2797	c.1106_splice	c.e12+1	p.R369_splice				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	369	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGTACCTGGGTGAGGG	0.562000													12	268					9.05144e-12	1.1316e-11	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132695805	132695805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132695805G>T	ENST00000367963.3	-	2	494	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	MOXD1_ENST00000336749.3_Missense_Mutation_p.L58M	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	126	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATGTATGCAGCTCTCTGGTA	0.343000													25	68					2.14196e-07	2.52089e-07	1	1	0
TJAP1	93643	broad.mit.edu	37	6	43472904	43472904	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43472904C>T	ENST00000372444.2	+	11	1388	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	TJAP1_ENST00000436109.2_Missense_Mutation_p.R319C|TJAP1_ENST00000438588.2_Missense_Mutation_p.R329C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R319C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.R329C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R319C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R329C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	329	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTATCCTGGCCGCAGGGTAAT	0.617000													21	30					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043537	49043537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49043537G>A	ENST00000343546.4	+	8	1756	c.1388G>A	c.(1387-1389)aGg>aAg	p.R463K	P4HTM_ENST00000383729.4_Missense_Mutation_p.R402K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	402						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACACACGGAGGCACTGTGAC	0.597000													42	65					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516267	226516267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:226516267G>A	ENST00000272907.6	+	6	2361	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	650																	ATCATCGTTAGCCAATCGTGA	0.498000													88	131					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349736	100349736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100349736T>C	ENST00000437033.2	-	3	675	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	ADH7_ENST00000476959.1_Missense_Mutation_p.M78V|ADH7_ENST00000209665.4_Missense_Mutation_p.M70V|ADH7_ENST00000482593.1_Start_Codon_SNP_p.M1V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	70					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGGACACCATTGTTCCTTTT	0.433000													16	148					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763428	77763428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77763428C>T	ENST00000521891.2	+	10	4719	c.4271C>T	c.(4270-4272)gCg>gTg	p.A1424V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1398V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1379V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1379V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCGGGCTGCGACAATGTGT	0.458000										HNSCC(33;0.089)			9	16					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522000													41	56					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557000													18	44					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119232882	119232882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119232882G>A	ENST00000316316.6	-	7	1369	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MCM9_ENST00000316068.3_Silent_p.F361F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	361	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CATATTTGAGGAACTGAGATT	0.373000													25	42					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773135	58773135	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773135C>A	ENST00000269829.4	+	7	1637	c.1163C>A	c.(1162-1164)tCt>tAt	p.S388Y	ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S360Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.S388Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S246Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000415203.2_Missense_Mutation_p.S360Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGTGGGAAATCTTTTAGCCAG	0.463000													15	48					6.31663e-08	7.49729e-08	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75929589	75929589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75929589G>T	ENST00000262207.4	+	10	1499	c.1031G>T	c.(1030-1032)gGt>gTt	p.G344V	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156V|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTCATTATGGTATAATAGAC	0.343000													43	76					1.02591e-13	1.30327e-13	1	1	0
ZNF692	55657	broad.mit.edu	37	1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249151477C>T	ENST00000451251.1	-	4	791	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000306601.4_Missense_Mutation_p.R144Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547000													45	58					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267735	67267735	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267735G>A	ENST00000356404.3	-	6	1023	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PITPNM1_ENST00000534749.1_Silent_p.S266S|PITPNM1_ENST00000436757.2_Silent_p.S266S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	266					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGGCCTCGGACCCCTCAC	0.692000													25	37					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7889875	7889875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7889875G>A	ENST00000381042.4	-	4	460	c.290C>T	c.(289-291)tCg>tTg	p.S97L	PNPLA4_ENST00000537427.1_Missense_Mutation_p.S10L|PNPLA4_ENST00000444736.1_Missense_Mutation_p.S97L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	97	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AGGAAGAATCGACTCCATCCC	0.438000													13	33					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035300	110035300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110035300C>T	ENST00000453089.2	+	5	2278	c.1397C>T	c.(1396-1398)aCa>aTa	p.T466I	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T498I|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T497I			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	497							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGCATAAGGACACAAGTCTAC	0.453000													7	60					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68378743	68378743	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68378743C>A	ENST00000545237.1	+	3	871	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	PIAS1_ENST00000249636.6_Missense_Mutation_p.L42M			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	42	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAAAAGCCCTGCATTTGCT	0.483000													4	29					1	1	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58576173	58576173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58576173A>G	ENST00000317147.5	-	33	4974	c.4642T>C	c.(4642-4644)Tat>Cat	p.Y1548H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Y1543H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Y399H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAGCTTGATATGTTAAAACA	0.408000													7	100					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81043069	81043069	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:81043069G>T	ENST00000571814.1	+	1	1121	c.180G>T	c.(178-180)caG>caT	p.Q60H	METRNL_ENST00000570778.1_Missense_Mutation_p.Q60H|METRNL_ENST00000320095.7_Missense_Mutation_p.Q142H			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	142						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCGGGTGCAGTGTTTTGGCC	0.622000													9	52					1.5842e-08	1.90059e-08	1	1	0
SRPR	6734	broad.mit.edu	37	11	126136713	126136713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126136713G>A	ENST00000332118.6	-	5	785	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SRPR_ENST00000532259.1_Missense_Mutation_p.R183C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	211					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CGCTTCCTGCGGATCAGCTCC	0.498000													82	128					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356410	55356410	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356410A>G	ENST00000524622.1	-	7	1519	c.858T>C	c.(856-858)caT>caC	p.H286H	TESPA1_ENST00000449076.1_Silent_p.H424H|TESPA1_ENST00000531122.1_Silent_p.H286H|TESPA1_ENST00000316577.8_Silent_p.H424H|TESPA1_ENST00000532804.1_Silent_p.H286H	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	424																	CCTTGGCTGGATGGGTTTCCG	0.498000													19	138					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189632	26189632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189632C>T	ENST00000374296.3	-	2	1365	c.699G>A	c.(697-699)acG>acA	p.T233T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	233					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATCATCCGTGGTGGGGT	0.597000													22	25					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893332	75893332	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75893332A>G	ENST00000322507.8	-	10	1634	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	COL12A1_ENST00000416123.2_Missense_Mutation_p.V442A|COL12A1_ENST00000483888.2_Missense_Mutation_p.V442A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	442	VWFA 2.			IV -> M (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCAAAAACACAATATCGGC	0.299000													41	72					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035557	153035557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153035557C>T	ENST00000538966.1	+	9	1980	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	PLXNB3_ENST00000361971.5_Missense_Mutation_p.S547F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.S97F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S200F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S157F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	547					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTTGTCTGTCCCCCGG	0.617000													27	49					0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216914079	216914079	+	Missense_Mutation	SNP	C	C	A	rs148712165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216914079C>A	ENST00000265322.7	-	6	695	c.621G>T	c.(619-621)caG>caT	p.Q207H	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	207					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCACAGCAGTCTGGGAATAAA	0.363000													6	110					0.00116845	0.00124821	1	1	0
LRP5L	91355	broad.mit.edu	37	22	25750681	25750681	+	Silent	SNP	G	G	A	rs150219610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25750681G>A	ENST00000444995.3	-	6	1237	c.537C>T	c.(535-537)acC>acT	p.T179T	LRP5L_ENST00000402785.2_Silent_p.T179T|LRP5L_ENST00000402859.2_Silent_p.T179T			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	179										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTGCCAGGCGGTCCAGTAGA	0.577000													6	56					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99509276	99509276	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99509276G>A	ENST00000393677.4	+	6	801	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZFYVE27_ENST00000337540.7_Silent_p.L167L|ZFYVE27_ENST00000357540.4_Silent_p.L113L|ZFYVE27_ENST00000356257.4_Silent_p.L199L|ZFYVE27_ENST00000370610.3_Silent_p.L101L|ZFYVE27_ENST00000370613.3_Silent_p.L81L|ZFYVE27_ENST00000359980.3_Silent_p.L199L|ZFYVE27_ENST00000453958.2_Silent_p.L199L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	199					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGTATTTGCTGCCACTCTGCT	0.522000													12	76					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281570	152281570	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281570G>T	ENST00000368799.1	-	3	5827	c.5792C>A	c.(5791-5793)tCt>tAt	p.S1931Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1931	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCTCTCAGAGTCTTCTGA	0.567000									Ichthyosis				7	301					1.06961e-07	1.26574e-07	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151784197	151784197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151784197G>A	ENST00000255262.3	-	1	643	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCCGGCGCCGGGTGCTCTGC	0.632000													18	36					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851517	49851517	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49851517T>A	ENST00000376088.3	+	11	2188	c.1547T>A	c.(1546-1548)tTt>tAt	p.F516Y	CLCN5_ENST00000376108.3_Missense_Mutation_p.F446Y|CLCN5_ENST00000376091.3_Missense_Mutation_p.F516Y|CLCN5_ENST00000307367.2_Missense_Mutation_p.F446Y	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	446			R -> W (in NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function).		excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATATTCACCTTTGGCATGAAG	0.493000													21	27					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735195	12735195	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12735195C>A	ENST00000380682.1	+	15	3123	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	873					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCTCCACGCTGGGAGCTCT	0.502000													8	92					0.000274275	0.000298791	1	1	0
FERMT1	55612	broad.mit.edu	37	20	6065807	6065807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6065807G>T	ENST00000217289.4	-	12	2287	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	FERMT1_ENST00000536936.1_Missense_Mutation_p.S243Y|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	500	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGAGATGCAGAGTTCCTGTT	0.478000													5	97					0.000602214	0.000649039	1	1	0
DHRS4L2	317749	broad.mit.edu	37	14	24464264	24464264	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24464264C>T	ENST00000335125.6	+	3	456	c.330C>T	c.(328-330)atC>atT	p.I110I	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Silent_p.I110I|DHRS4L2_ENST00000397071.1_Silent_p.I110I|DHRS4L2_ENST00000534993.1_Silent_p.I9I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.I108I	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ATGGAGGTATCGATATCCTAG	0.493000													10	584					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749565	49749565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49749565C>A	ENST00000492622.2	+	13	1723	c.1418C>A	c.(1417-1419)cCt>cAt	p.P473H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P473H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P417H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	473	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGCAAGTCCTGTATTAACC	0.388000													5	48					1.024e-07	1.214e-07	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58831923	58831923	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831923G>C	ENST00000355431.3	+	20	3489	c.3116G>C	c.(3115-3117)gGt>gCt	p.G1039A	ARID4A_ENST00000431317.2_Missense_Mutation_p.G1039A|ARID4A_ENST00000348476.3_Missense_Mutation_p.G1039A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G1039A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1039					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAAGAAGGTCTCTGTGAG	0.408000													31	75					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201193940	201193940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201193940C>T	ENST00000335211.4	+	21	10554	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCTCTACACTGTGGTGCTG	0.597000													19	9					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237886	56237886	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56237886G>A	ENST00000312240.2	-	1	128	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAGACCACAAGAAAGATGATG	0.433000													35	56					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34808726	34808726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34808726C>T	ENST00000265109.3	+	7	704	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RAI14_ENST00000506376.1_Silent_p.C131C|RAI14_ENST00000512629.1_Silent_p.C139C|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Silent_p.C139C|RAI14_ENST00000515799.1_Silent_p.C142C|RAI14_ENST00000397449.1_Silent_p.C132C|RAI14_ENST00000503673.1_Silent_p.C139C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	139						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTGCGAACACAAGA	0.478000													14	22					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938504	45938504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45938504G>A	ENST00000374391.2	+	10	1344	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	ALOX5_ENST00000493336.1_3'UTR|ALOX5_ENST00000542434.1_Missense_Mutation_p.G431S	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	431	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CACAGGGGGCGGTGGGCACGT	0.647000													4	86					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24622178	24622178	+	Silent	SNP	G	G	A	rs144798635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24622178G>A	ENST00000327365.4	-	8	1511	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GGT5_ENST00000398292.3_Silent_p.I365I|GGT5_ENST00000263112.7_Silent_p.I333I|GGT5_ENST00000418439.2_Silent_p.I288I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	365					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.I365I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGGCCATCGATCTGTTGGC	0.692000													19	29					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68540734	68540734	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68540734T>C	ENST00000265641.5	-	14	1893	c.1740_splice	c.e14+1	p.K580_splice	CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000540367.1_Splice_Site_p.K580_splice|CPT1A_ENST00000539743.1_Splice_Site_p.K580_splice|CPT1A_ENST00000376618.2_Splice_Site_p.K580_splice	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	580					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTTCTTACCTTGTAGTGCGC	0.562000													21	16					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587000													55	92					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23390200	23390200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23390200C>T	ENST00000324366.8	-	17	2050	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	PRMT5_ENST00000397441.2_Silent_p.K592K|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Silent_p.K548K|PRMT5_ENST00000553897.1_Silent_p.K565K|PRMT5_ENST00000538452.1_Silent_p.K503K|PRMT5_ENST00000397440.4_Silent_p.K438K	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	609					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACACCTTCTTGGAATTGC	0.522000													14	29					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661371	44661371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661371A>G	ENST00000426739.2	+	6	1460	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF234_ENST00000592437.1_Missense_Mutation_p.K401R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCCATACAAATGCAATGAG	0.423000													3	26					0	0	1	0	0
CYP11B1	0	broad.mit.edu	37	8	143957747	143957747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143957747G>A	ENST00000292427.4	-	5	896	c.864C>T	c.(862-864)agC>agT	p.S288S	CYP11B1_ENST00000517471.1_Silent_p.S288S|CYP11B1_ENST00000377675.3_Silent_p.S359S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	288					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCGCCACGATGCTGGTGTACT	0.587000									Familial Hyperaldosteronism type I				8	14					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	432971	432971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:432971G>A	ENST00000316418.5	+	11	1131	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	AHRR_ENST00000505113.1_Missense_Mutation_p.A345T|AHRR_ENST00000512529.1_Missense_Mutation_p.A191T|AHRR_ENST00000506456.1_Missense_Mutation_p.A201T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGACTGACGCTGGCCGATG	0.657000													8	16					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881927	92881927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92881927G>T	ENST00000326402.4	-	11	1421	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L296M	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	431					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGGTGGCAGGATTAGGGCC	0.393000													7	52					0.0477658	0.0488009	1	1	0
PHF2	5253	broad.mit.edu	37	9	96339133	96339133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96339133C>T	ENST00000359246.4	+	1	445	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PHF2_ENST00000375376.4_Silent_p.C26C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	26				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCGACGCCTGCAAGGACTGGT	0.756000													3	8					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81593699	81593699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81593699G>T	ENST00000394660.2	+	15	3524	c.3164G>T	c.(3163-3165)aGa>aTa	p.R1055I	IL16_ENST00000394652.2_Missense_Mutation_p.R354I|IL16_ENST00000302987.4_Missense_Mutation_p.R1055I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1055	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAGCTGAGAGAATATACA	0.438000													5	40					1.23904e-05	1.39987e-05	1	1	0
C4orf17	84103	broad.mit.edu	37	4	100451060	100451060	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100451060A>G	ENST00000514652.1	+	5	845	c.491A>G	c.(490-492)aAt>aGt	p.N164S	C4orf17_ENST00000326581.4_Missense_Mutation_p.N164S|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	164										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTACCAAGAATGATGTGAAA	0.393000													8	44					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64791910	64791910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64791910G>T	ENST00000326648.3	+	1	420	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	ZNF609_ENST00000416172.1_Missense_Mutation_p.D98Y	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	98						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGCAAAGACACTAGCAA	0.532000													23	63					2.32416e-17	3.01417e-17	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57767536	57767536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767536G>A	ENST00000371030.2	+	1	1462	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCCACTCCGTCCCCACTCA	0.692000													13	18					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072536	34072536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072536C>A	ENST00000254466.6	-	6	2007	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q644H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	660					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGGGACCCCTGAGCCAGTT	0.627000													11	137					1.58986e-06	1.84011e-06	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56395645	56395645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56395645G>T	ENST00000355701.3	-	14	2738	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P563H|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P623H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	623						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTACCTCAGGTGTAGGGCA	0.612000													20	42					3.01185e-09	3.6461e-09	1	1	0
TUBB6	84617	broad.mit.edu	37	18	12325589	12325589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12325589G>A	ENST00000317702.5	+	4	1035	c.801G>A	c.(799-801)atG>atA	p.M267I	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	267					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTTCTTCATGCCTGGCTTCG	0.672000													10	18					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060664	56060664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56060664G>T	ENST00000584396.1	-	2	185	c.97C>A	c.(97-99)Cca>Aca	p.P33T	VEZF1_ENST00000581208.1_Missense_Mutation_p.P42T			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	42					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCAATGGTTTCTGATCA	0.473000													9	153					3.09899e-07	3.63227e-07	1	1	0
ACACA	31	broad.mit.edu	37	17	35600310	35600310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35600310G>A	ENST00000353139.5	-	22	3389	c.2908C>T	c.(2908-2910)Ctc>Ttc	p.L970F	ACACA_ENST00000335166.5_Missense_Mutation_p.L855F|ACACA_ENST00000360679.3_Missense_Mutation_p.L875F|ACACA_ENST00000394406.2_Missense_Mutation_p.L933F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	933					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGACAGAGGACTGATGTG	0.433000													45	73					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7399865	7399865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7399865G>T	ENST00000322644.6	+	4	869	c.470G>T	c.(469-471)gGg>gTg	p.G157V	POLR2A_ENST00000572844.1_Missense_Mutation_p.G157V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCGAGGGTGGGGAGGAGATG	0.532000													12	133					1.49906e-05	1.69169e-05	1	1	0
MARCH7	64844	broad.mit.edu	37	2	160599690	160599690	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160599690G>T	ENST00000259050.3	+	3	394	c.272G>T	c.(271-273)aGa>aTa	p.R91I	MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.R53I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R91I|MARCH7_ENST00000539065.1_Missense_Mutation_p.R91I	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	91	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTCAAAAAGACCTAAACTT	0.408000													10	78					9.70103e-10	1.18443e-09	1	1	0
EPB42	2038	broad.mit.edu	37	15	43500847	43500847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43500847C>A	ENST00000300215.3	-	7	1506	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	EPB42_ENST00000540029.1_Missense_Mutation_p.R242I|EPB42_ENST00000441366.2_Missense_Mutation_p.R320I			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	320				H -> D (in Ref. 1; AAA74589/AAA52385 and 2; AAA35798).	erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GATTCTGCCTCTCTGGCCTTC	0.577000													71	207					8.87156e-34	1.19225e-33	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33632378	33632378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33632378C>T	ENST00000252015.2	-	7	884	c.795G>A	c.(793-795)acG>acA	p.T265T	TRPC4AP_ENST00000451813.1_Silent_p.T265T|TRPC4AP_ENST00000432634.2_Silent_p.T226T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	265	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGCAAGAAGCGTGTGCTTGT	0.448000													47	96					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205090	26205090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26205090A>G	ENST00000360441.4	+	1	233	c.218A>G	c.(217-219)tAc>tGc	p.Y73C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCTGTGACTTACACGGAGCAC	0.557000													3	52					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000263441.7_Silent_p.T388T|DNAJC6_ENST00000371069.4_Silent_p.T458T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413000													13	46					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57144795	57144795	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57144795C>A	ENST00000535318.2	+	3	502	c.141C>A	c.(139-141)ttC>ttA	p.F47L	CPNE2_ENST00000565874.1_Missense_Mutation_p.F47L|CPNE2_ENST00000290776.8_Missense_Mutation_p.F47L|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	47	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCGACCCCTTCTGTGTCCTCT	0.602000													18	73					1.96292e-10	2.41709e-10	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16068429	16068429	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16068429G>A	ENST00000268712.3	-	5	739	c.482C>T	c.(481-483)tCg>tTg	p.S161L	NCOR1_ENST00000395851.1_Missense_Mutation_p.S161L|NCOR1_ENST00000395848.1_Missense_Mutation_p.S52L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGTTGCCCCGAAATTGGAGA	0.388000													21	121					0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754807	35754807	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35754807C>T	ENST00000373861.5	+	2	226	c.132C>T	c.(130-132)gaC>gaT	p.D44D	CLPSL1_ENST00000542261.1_Silent_p.D43D			A2RUU4	CF127_HUMAN	colipase-like 1	44					digestion|lipid catabolic process	extracellular region	enzyme activator activity										GGAACCAGGACTGCGAGACTG	0.677000													3	2					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3778368	3778368	+	Silent	SNP	G	G	A	rs147311787	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3778368G>A	ENST00000245960.5	+	2	997	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CDC25B_ENST00000340833.4_Silent_p.S100S|CDC25B_ENST00000439880.2_Silent_p.S86S|CDC25B_ENST00000344256.6_Silent_p.S36S|CDC25B_ENST00000379598.5_Silent_p.S36S|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	100					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTCCCTGTCGTCTGAATCCT	0.627000													54	74					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89929992	89929992	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89929992C>T	ENST00000378247.3	+	11	1727	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L562F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	562					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAACAAGGAGCTCTTCAGCAG	0.622000													17	46					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892311	4892311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4892311G>A	ENST00000328908.5	+	4	682	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.R130Q			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	184					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCTCCAGCCGGAAGAACATG	0.537000													32	30					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91776271	91776271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91776271G>T	ENST00000389857.6	-	16	2882	c.2796C>A	c.(2794-2796)agC>agA	p.S932R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	932					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCAGTTCCTGGCTCAGCTTGT	0.602000													6	12					0.00307968	0.00325696	1	1	0
PRSS58	136541	broad.mit.edu	37	7	141952105	141952105	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952105A>C	ENST00000552471.1	-	5	981	c.662T>G	c.(661-663)gTt>gGt	p.V221G	PRSS58_ENST00000547058.2_Missense_Mutation_p.V221G			Q8IYP2	PRS58_HUMAN	protease, serine, 58	221	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATAGATGCCAACATCGGCTCT	0.438000													10	42					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19102726	19102726	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19102726C>A	ENST00000380502.3	-	0	391					NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATCCCTCCCTACGGTCAGC	0.632000													3	12					0.004672	0.0049138	1	1	0
SIGMAR1	10280	broad.mit.edu	37	9	34636994	34636994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34636994C>A	ENST00000378892.1	-	2	605	c.178_splice	c.e2+1	p.G60_splice	SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000277010.4_Splice_Site_p.G149_splice|SIGMAR1_ENST00000461426.1_Intron			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	149					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCTTACCCACCTGGGTAGAAG	0.592000													4	24					0.00909568	0.00947522	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52539740G>T	ENST00000261839.7	-	15	1957	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	599	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438000													8	74					0.000157383	0.00017284	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81232505	81232505	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232505G>T	ENST00000599697.1	-	7	1304	c.1305C>A	c.(1303-1305)acC>acA	p.T435T	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	435	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGATTGTAGAGGTGGTGGTGT	0.567000													15	164					0.00400662	0.00423533	1	1	0
TSPAN8	7103	broad.mit.edu	37	12	71551452	71551452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71551452C>A	ENST00000393330.2	-	5	559	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	TSPAN8_ENST00000546561.1_Missense_Mutation_p.G3C|TSPAN8_ENST00000247829.3_Missense_Mutation_p.G3C|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	3					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCACTCACACCTGCCATTTCG	0.393000													4	58					0.000602214	0.000649039	1	1	0
MFRP	83552	broad.mit.edu	37	11	119217195	119217195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119217195C>T	ENST00000555262.1	-	1	188	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.C10Y|MFRP_ENST00000449574.2_Missense_Mutation_p.C10Y|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000530681.1_Missense_Mutation_p.C10Y	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCCTCCATGCAGAGGATGAC	0.562000													21	47					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140182645	140182645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182645G>A	ENST00000522353.2	+	1	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.P621P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTTCGCGTGG	0.667000													5	54					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24580425	24580425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24580425C>A	ENST00000319715.4	+	17	2846	c.2414C>A	c.(2413-2415)cCa>cAa	p.P805Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.P771Q|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	805					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCCACCACCATATGACATG	0.393000													4	71					0.00909568	0.00947522	1	1	0
NDUFV1	4723	broad.mit.edu	37	11	67376950	67376950	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67376950C>T	ENST00000322776.6	+	4	507	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NDUFV1_ENST00000532303.1_Silent_p.D17D|NDUFV1_ENST00000415352.2_Silent_p.D111D|NDUFV1_ENST00000529927.1_Silent_p.D109D|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAACGCAGACGAGGGGGAGC	0.657000													49	82					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24497012	24497012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24497012G>A	ENST00000284224.8	-	6	820	c.543C>T	c.(541-543)ttC>ttT	p.F181F	AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.F181F|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	181					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ACTCCTGAAGGAAAGACCTTC	0.373000													42	88					0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76580230	76580230	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76580230A>G	ENST00000557943.1	-	5	488	c.408T>C	c.(406-408)atT>atC	p.I136I	ETFA_ENST00000433983.2_Silent_p.I87I|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Silent_p.I32I	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	136					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTTGATTGCAATGATGTCAG	0.363000													21	39					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140347359	140347359	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347359G>T	ENST00000289269.5	+	1	1540	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		336	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTGCAGGCGACTGACC	0.592000													4	20					1.23904e-05	1.39987e-05	1	1	0
DAPK1	1612	broad.mit.edu	37	9	90272950	90272950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90272950C>T	ENST00000469640.2	+	18	2206	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R611*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R611*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R611*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R611*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	611					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGTATGGGCGAACGCCTCT	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of				9	5					0	0	1	0	0
GNPTG	84572	broad.mit.edu	37	16	1411752	1411752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1411752C>T	ENST00000204679.4	+	4	230	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	63						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGGACCCGTGCATCTCTTCCG	0.602000													16	15					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976590	24976590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24976590C>T	ENST00000250378.3	-	2	210	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	61	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCCGTCAGCACAAAGTTCCGT	0.478000													57	100					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119057160	119057160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119057160C>T	ENST00000531114.1	+	2	838	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L97F			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	97					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTCCTCCCCCTTTTCTGCTG	0.602000													16	30					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173165G>T	ENST00000339582.2	-	9	3079	c.2271C>A	c.(2269-2271)atC>atA	p.I757I	GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000358373.3_Silent_p.I757I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443000										HNSCC(24;0.065)			12	29					1.08611e-07	1.2824e-07	1	1	0
ZBED1	9189	broad.mit.edu	37	X	2406829	2406829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2406829C>A	ENST00000381223.4	-	2	2135	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	ZBED1_ENST00000381222.2_Missense_Mutation_p.Q644H|DHRSX_ENST00000334651.5_Intron|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q644H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	644						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGAAACACCTGCTCGTCCA	0.682000													25	89					6.32553e-13	7.99037e-13	1	1	0
METTL2B	55798	broad.mit.edu	37	7	128119311	128119311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119311C>A	ENST00000480046.1	+	2	222	c.107C>A	c.(106-108)cCt>cAt	p.P36H	METTL2B_ENST00000262432.8_Missense_Mutation_p.P101H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	101							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCGAATTCCCTGAGCTGGCA	0.393000													9	80					7.48243e-07	8.70085e-07	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108708437	108708437	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108708437G>T	ENST00000218006.2	-	3	1257	c.966C>A	c.(964-966)acC>acA	p.T322T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	322					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTGATAGAAGGTCTTTTCTT	0.483000													9	162					2.74318e-10	3.37541e-10	1	1	0
CCDC82	79780	broad.mit.edu	37	11	96092318	96092318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96092318C>T	ENST00000278520.5	-	8	1833	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	CCDC82_ENST00000542662.1_Missense_Mutation_p.A469T|CCDC82_ENST00000423339.2_Missense_Mutation_p.A469T			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	469							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTACGGCTGGCACAAATTCTG	0.328000													12	31					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41897203	41897203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41897203C>T	ENST00000379406.3	+	5	738	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAA16_ENST00000379367.3_Silent_p.Y138Y|NAA16_ENST00000403412.3_Silent_p.Y138Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	138					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGACAAGATACCAGCTTCTTC	0.353000													36	69					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95399908	95399908	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95399908A>C	ENST00000371447.3	+	12	1702	c.1564A>C	c.(1564-1566)Att>Ctt	p.I522L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	522					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCACGGATTGATTAAATGTGG	0.408000													52	71					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196751283	196751283	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196751283G>A	ENST00000296350.5	-	4	491	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MFI2_ENST00000296351.4_Silent_p.G126G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	126	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGACTTCACGCCTTTCAGGG	0.637000													18	40					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967961	48967961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48967961G>A	ENST00000391884.1	+	2	1714	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	KCNJ14_ENST00000342291.2_Missense_Mutation_p.G413E			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	413						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAAGGGAATGGGGTGGAAACA	0.552000													27	43					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944866	127944866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944866C>T	ENST00000335247.7	-	8	1230	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R367Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	367						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTAACAAATCGCACGTGGAT	0.493000													33	37					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833470	97833470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97833470C>A	ENST00000297293.5	+	13	4748	c.4455C>A	c.(4453-4455)caC>caA	p.H1485Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1485				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCACACACCTGACCGACT	0.682000													49	45					1.51926e-22	2.00588e-22	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795063	109795063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795063C>T	ENST00000271332.3	+	1	2423	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	788	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATTACTGCTCGGGACAATGG	0.572000													24	38					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36137525	36137525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36137525C>T	ENST00000296603.4	-	5	849	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	129						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATGACTGCATAAAAGGTA	0.328000													16	37					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811353	7811353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7811353G>A	ENST00000303635.7	+	20	4991	c.4784G>A	c.(4783-4785)cGg>cAg	p.R1595Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1581Q|CAMTA1_ENST00000476864.1_Missense_Mutation_p.R159Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1595	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCCGACGGGCTGCTGTG	0.463000			T	WWTR1	epitheliod hemangioendothelioma								17	197					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99812406	99812406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99812406G>T	ENST00000450253.2	-	3	1727	c.203C>A	c.(202-204)aCt>aAt	p.T68N	EIF4E_ENST00000505992.1_Missense_Mutation_p.T68N|EIF4E_ENST00000504432.1_Missense_Mutation_p.T96N|EIF4E_ENST00000280892.6_Missense_Mutation_p.T88N	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	68					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GTCTTCAACAGTATCAAACTT	0.318000													23	31					1.77063e-15	2.27219e-15	1	1	0
CADPS	8618	broad.mit.edu	37	3	62385245	62385245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385245A>G	ENST00000383710.4	-	30	4247	c.3898T>C	c.(3898-3900)Ttc>Ctc	p.F1300L	CADPS_ENST00000283269.9_Missense_Mutation_p.F1261L|CADPS_ENST00000357948.3_Missense_Mutation_p.F1221L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1300	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATCGGAAATCTCTGTAG	0.488000													32	45					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21726405	21726405	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21726405C>A	ENST00000388958.3	+	13	1421	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	OTOA_ENST00000286149.4_Missense_Mutation_p.L488M|OTOA_ENST00000388956.4_Missense_Mutation_p.L395M|OTOA_ENST00000388957.3_Missense_Mutation_p.L150M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	488					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGCAGGTCCTGAGAAGTGC	0.567000													14	224					0.000151284	0.000166931	1	1	0
LIPG	9388	broad.mit.edu	37	18	47107794	47107794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47107794A>G	ENST00000261292.4	+	6	1081	c.803A>G	c.(802-804)gAg>gGg	p.E268G	LIPG_ENST00000427224.2_Missense_Mutation_p.E194G|LIPG_ENST00000580036.1_Missense_Mutation_p.E268G|LIPG_ENST00000577628.1_Missense_Mutation_p.E304G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	268					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCAATCACAGAGGTGGTAAAA	0.463000													33	59					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135304414	135304414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135304414C>T	ENST00000285968.6	+	29	4233	c.4207C>T	c.(4207-4209)Ctg>Ttg	p.L1403L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1403					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGAAGAAACTGTTAGACTT	0.303000													18	54					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530127	41530127	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41530127T>G	ENST00000396942.1	-	38	4924	c.4841A>C	c.(4840-4842)gAg>gCg	p.E1614A	ANK1_ENST00000347528.4_Missense_Mutation_p.E1614A|ANK1_ENST00000379758.2_Missense_Mutation_p.E1614A|ANK1_ENST00000396945.1_Missense_Mutation_p.E1614A|ANK1_ENST00000352337.4_Missense_Mutation_p.E1614A|ANK1_ENST00000265709.8_Missense_Mutation_p.E1655A|ANK1_ENST00000289734.7_Missense_Mutation_p.E1614A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1614	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGAGCCCAACTCGGGGCCCCG	0.562000													5	174					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656038	87656038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87656038C>A	ENST00000320005.5	-	10	1166	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	373					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTGAAGCCCAGTAATAAA	0.353000													12	91					6.40141e-05	7.11719e-05	1	1	0
BCAS3	54828	broad.mit.edu	37	17	58952033	58952033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58952033G>A	ENST00000589222.1	+	9	663	c.595G>A	c.(595-597)Gta>Ata	p.V199I	BCAS3_ENST00000588462.1_Missense_Mutation_p.V199I|BCAS3_ENST00000390652.5_Missense_Mutation_p.V199I|BCAS3_ENST00000407086.3_Missense_Mutation_p.V199I|BCAS3_ENST00000408905.3_Missense_Mutation_p.V199I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	199				VV -> II (in Ref. 2; BAB15156).		nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCCTTGTCGTAGTCTTGCA	0.323000													23	35					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411054	23411054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411054G>T	ENST00000379361.4	+	3	2279	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	473					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAAGGCGAGGAAGCGAACA	0.483000													53	135					9.40368e-32	1.26111e-31	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135314090	135314090	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314090G>A	ENST00000316077.9	-	8	1246	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	MAP7D3_ENST00000370663.5_Silent_p.S324S|MAP7D3_ENST00000370661.1_Silent_p.S307S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	342						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACACGTCCACGCTCACCACAG	0.562000													63	107					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18077188	18077188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18077188C>A	ENST00000205890.5	+	65	10782	c.10444C>A	c.(10444-10446)Ctg>Atg	p.L3482M	RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.L746M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3482	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGATTGCGCTGGGGGACGT	0.642000													4	35					0.014758	0.0152625	1	1	0
CLSPN	63967	broad.mit.edu	37	1	36205109	36205109	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36205109C>A	ENST00000251195.5	-	19	3261	c.3165G>T	c.(3163-3165)gaG>gaT	p.E1055D	CLSPN_ENST00000520551.1_Missense_Mutation_p.E1002D|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E991D|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1055D			Q9HAW4	CLSPN_HUMAN	claspin	1055					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCTCATCCTCCAGGTATT	0.398000													8	90					0.00621372	0.00652201	1	1	0
SLC2A13	114134	broad.mit.edu	37	12	40345164	40345164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40345164C>A	ENST00000280871.4	-	4	979	c.929G>T	c.(928-930)gGa>gTa	p.G310V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.G310V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	310						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATCACAGGTCCAGCTTTTTT	0.373000										HNSCC(50;0.14)			7	20					2.0095e-06	2.31757e-06	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24762394	24762394	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24762394C>A	ENST00000376451.2	+	2	498	c.238C>A	c.(238-240)Cca>Aca	p.P80T	KIAA1217_ENST00000376454.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P362T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P80T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P282T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P283T			Q5T5P2	SKT_HUMAN	KIAA1217	362					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCCATCTCTCCAAGCCCAAG	0.502000													41	66					8.01111e-26	1.06612e-25	1	1	0
TPST1	8460	broad.mit.edu	37	7	65751514	65751514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65751514G>A	ENST00000304842.5	+	3	1287	c.862G>A	c.(862-864)Gac>Aac	p.D288N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	288					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGATCTACAGACCAAGTAAT	0.323000													34	26					0	0	1	0	0
ENY2	56943	broad.mit.edu	37	8	110352717	110352717	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110352717G>T	ENST00000521688.1	+	4	299		c.e4-1		ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000520147.1_Splice_Site	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)						histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTTTGCATAAGAGGTAATTAA	0.328000													4	52					3.59834e-05	4.01776e-05	1	1	0
LRRC37A11P	0	broad.mit.edu	37	17	37188635	37188635	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37188635C>A	ENST00000425901.2	+	0	2477					NR_033753.2																						AAAGCAGAGGCTCCGCTGAGT	0.527000													33	47					9.93527e-08	1.17848e-07	1	1	0
FOXS1	2307	broad.mit.edu	37	20	30433195	30433195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30433195G>A	ENST00000375978.3	-	1	225	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	51					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAGGCGAATCGGCCCATGATG	0.617000													15	35					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565020	25565020	+	Missense_Mutation	SNP	G	G	A	rs140836073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25565020G>A	ENST00000269141.3	-	13	2576	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	CDH2_ENST00000399380.3_Missense_Mutation_p.A687V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	718					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAAGCCCCGCACCCACAAT	0.493000													18	21					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967870	4967870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4967870C>T	ENST00000380373.2	-	1	486	c.461G>A	c.(460-462)aGc>aAc	p.S154N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGCATGCTCTTAAAGGA	0.423000													87	222					0	0	1	0	0
ZNF366	0	broad.mit.edu	37	5	71756469	71756469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71756469G>T	ENST00000318442.5	-	2	1345	c.855C>A	c.(853-855)caC>caA	p.H285Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCCCGCAGTGCGTGCACG	0.632000													38	64					4.92203e-23	6.50827e-23	1	1	0
SLC50A1	55974	broad.mit.edu	37	1	155110071	155110071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110071G>A	ENST00000368404.4	+	4	379	c.317G>A	c.(316-318)gGg>gAg	p.G106E	SLC50A1_ENST00000484157.1_Missense_Mutation_p.G41E|SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Missense_Mutation_p.G51E	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	106					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCCTGCTAGGGGTCCTTCTC	0.547000													43	40					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818480	23818480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23818480C>T	ENST00000354772.3	-	4	1030		c.e4+1		SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617000													23	42					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126371738	126371738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126371738C>A	ENST00000373624.2	-	11	943	c.742G>T	c.(742-744)Gga>Tga	p.G248*	DENND1A_ENST00000373618.1_Nonsense_Mutation_p.G216*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.G32*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.G248*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.G218*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.G216*|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	248	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATGGATTCCTATGAGGTAG	0.458000													4	40					0.150653	0.152692	1	1	0
TTN	7273	broad.mit.edu	37	2	179428603	179428603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179428603T>C	ENST00000589042.1	-	326	82480	c.82256A>G	c.(82255-82257)cAg>cGg	p.Q27419R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q18354R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24851R|TTN_ENST00000359218.5_Missense_Mutation_p.Q18479R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18546R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25778R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25778							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGAAACCTGGGTCCAAGA	0.413000													9	72					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613992	120613992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120613992C>T	ENST00000300648.6	-	10	879	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	289					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGGTCAAGCGTCACTGATG	0.483000													30	44					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76343439	76343439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343439T>C	ENST00000370014.3	+	4	969	c.350T>C	c.(349-351)tTg>tCg	p.L117S	SENP6_ENST00000447266.2_Missense_Mutation_p.L117S|SENP6_ENST00000327284.8_Missense_Mutation_p.L117S|SENP6_ENST00000370010.2_Missense_Mutation_p.L117S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	117					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAGAAATTGAGGTATAGG	0.358000													17	32					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15479598G>A	ENST00000380733.4	-	7	887	c.544C>T	c.(544-546)Cga>Tga	p.R182*	PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R182*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373000													25	43					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77984313	77984313	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77984313T>G	ENST00000344720.5	+	11	2160	c.1134T>G	c.(1132-1134)caT>caG	p.H378Q	AK5_ENST00000354567.2_Missense_Mutation_p.H404Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	404					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTTACACATCTCTCAACTG	0.473000													3	47					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114617	177114617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177114617G>A	ENST00000280191.2	-	2	443	c.335C>T	c.(334-336)gCa>gTa	p.A112V	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	112					apoptosis|spermatogenesis			p.A112E(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTCCAACTGTGCCCAGTTATC	0.368000													28	48					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32016145	32016145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32016145C>A	ENST00000375244.3	-	29	10241	c.10040G>T	c.(10039-10041)aGg>aTg	p.R3347M	TNXB_ENST00000375247.2_Missense_Mutation_p.R3345M			P22105	TENX_HUMAN	tenascin XB	3392	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCACCGGTCCTGGCCTCCAC	0.657000													5	18					1.23904e-05	1.39987e-05	1	1	0
SLC17A5	26503	broad.mit.edu	37	6	74304812	74304812	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74304812T>C	ENST00000355773.5	-	11	1744	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	492					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTCTGTGTCCATGGTGAT	0.358000													34	79					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71170823	71170823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71170823G>A	ENST00000234396.4	+	2	227	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000422761.1_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52M|AC007040.7_ENST00000447639.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CGGGCCCCTGGTGGTGCTGGA	0.627000													10	20					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220472	155220472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155220472G>A	ENST00000361361.2	-	9	1614	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FAM189B_ENST00000368368.3_Missense_Mutation_p.R351C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R273C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	369						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACGGCTGCGCTGGATGGAG	0.706000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40681204	40681204	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40681204C>A	ENST00000298910.7	+	20	2610	c.2552C>A	c.(2551-2553)gCt>gAt	p.A851D	LRRK2_ENST00000343742.2_Missense_Mutation_p.A851D	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	851					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAAAGTGCTGTGGAAGAA	0.378000													12	21					2.27111e-07	2.66951e-07	1	1	0
PPIC	5480	broad.mit.edu	37	5	122365005	122365005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122365005C>A	ENST00000306442.4	-	2	341	c.226G>T	c.(226-228)Gga>Tga	p.G76*		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	76	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CATACCTCTCCTGTTGCTAGA	0.353000													30	55					5.60225e-13	7.08299e-13	1	1	0
ADPRHL2	54936	broad.mit.edu	37	1	36558763	36558763	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36558763C>A	ENST00000373178.4	+	6	898	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	290						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CTGCATGGAGCCAGACCCTGA	0.552000													9	64					7.48243e-07	8.70085e-07	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185265	127185265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:127185265G>A	ENST00000371124.3	-	1	1117	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	307						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGCCCAGGGAGGAGAGTGG	0.493000													7	91					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65325242	65325242	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65325242C>A	ENST00000301873.5	-	1	457	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LTBP3_ENST00000322147.4_Missense_Mutation_p.K63N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	63	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAAAGACCACCTTGAAGCGCT	0.711000													6	14					0.00198382	0.00210581	1	1	0
GCC1	79571	broad.mit.edu	37	7	127222701	127222701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127222701C>A	ENST00000321407.2	-	2	2119	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	565						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCAGCTCCTGCCGGTGGA	0.647000													5	72					0.000602214	0.000649039	1	1	0
DNAJB2	3300	broad.mit.edu	37	2	220149426	220149426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220149426C>T	ENST00000336576.5	+	9	980	c.692C>T	c.(691-693)tCt>tTt	p.S231F	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.S231F	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	231					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCCAGGTCTGGGGGCACT	0.637000													16	23					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151945083C>T	ENST00000355193.2	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I					lysine (K)-specific methyltransferase 2C																		AAGTTGTTGGCATGATGTTTC	0.448000													11	431					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17605235	17605235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17605235A>G	ENST00000259963.3	+	3	987	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	311	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACTTATATACAGATTATTA	0.284000													5	58					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286930	31286930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286930C>T	ENST00000332585.6	+	8	1943	c.1839C>T	c.(1837-1839)gaC>gaT	p.D613D	OSBP2_ENST00000382310.3_Silent_p.D564D|OSBP2_ENST00000403222.3_Silent_p.D447D|OSBP2_ENST00000446658.2_Silent_p.D612D|OSBP2_ENST00000407373.1_Silent_p.D440D|OSBP2_ENST00000401475.1_Silent_p.D246D|OSBP2_ENST00000535268.1_Silent_p.D157D|OSBP2_ENST00000437268.2_Silent_p.D355D	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	613					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCGCCTCGACGACATGGGCC	0.662000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615992	100615992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100615992C>T	ENST00000305631.5	-	2	713	c.138G>A	c.(136-138)gcG>gcA	p.A46A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	46					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACCAGCACCGCCCACTTGA	0.692000													12	11					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151315446	151315446	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151315446G>T	ENST00000290524.4	-	11	1245	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	RFX5_ENST00000368870.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452671.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452513.2_Missense_Mutation_p.S316Y	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	356						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCACCTGAAGAAAGCCTGGG	0.587000													34	32					7.11191e-15	9.09819e-15	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82417649	82417649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82417649C>T	ENST00000370728.1	+	11	2250	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	LPHN2_ENST00000370727.1_Silent_p.S535S|LPHN2_ENST00000370715.1_Silent_p.S535S|LPHN2_ENST00000359929.3_Silent_p.S535S|LPHN2_ENST00000370717.2_Silent_p.S535S|LPHN2_ENST00000370713.1_Silent_p.S535S|LPHN2_ENST00000370725.1_Silent_p.S535S|LPHN2_ENST00000319517.6_Silent_p.S535S|LPHN2_ENST00000271029.4_Silent_p.S535S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S535S|LPHN2_ENST00000335786.5_Silent_p.S535S|LPHN2_ENST00000370721.1_Silent_p.S473S|LPHN2_ENST00000370723.1_Silent_p.S535S|LPHN2_ENST00000394879.1_Silent_p.S535S			O95490	LPHN2_HUMAN	latrophilin 2	535					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATCAGAAGCGGAGAAAATG	0.363000													5	80					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334319	21334319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21334319G>A	ENST00000359039.4	-	1	1060	c.540C>T	c.(538-540)aaC>aaT	p.N180N	KLHL9_ENST00000537938.1_Silent_p.N112N			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	180	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGCAGGAAAGTTCTTCAGGA	0.378000													21	33					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58267980	58267980	+	Missense_Mutation	SNP	C	C	T	rs145667783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58267980C>T	ENST00000300896.4	-	29	3780	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	USP32_ENST00000592339.1_Missense_Mutation_p.A866T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1196					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAATCCACAGCGATATAGGCA	0.423000													14	129					0	0	1	0	0
MIR509-3	0	broad.mit.edu	37	X	146341179	146341179	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:146341179T>C	ENST00000390725.1	-	0	65					NR_030629.1																						CATGCAGTACTCTACCCACAG	0.453000													39	92					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307380	47307380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47307380G>A	ENST00000377065.4	-	5	2428	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ZNF41_ENST00000397050.2_Missense_Mutation_p.H607Y|ZNF41_ENST00000313116.7_Missense_Mutation_p.H597Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	639						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCTCTGATGCACGCTTAGT	0.453000													5	40					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56530574	56530574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56530574C>A	ENST00000394048.5	+	16	1943	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P570H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P570H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	560						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACGCTGCCTCTGGCCCGC	0.552000													5	36					0.217242	0.218821	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121882002	121882002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121882002C>T	ENST00000377069.4	-	16	2577	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.R755Q|KDM2B_ENST00000542973.1_Missense_Mutation_p.R123Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	755					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGTTGTCCCGGTTCATCTT	0.602000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	55					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96068407	96068407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96068407G>A	ENST00000260766.3	+	27	6588	c.5954G>A	c.(5953-5955)aGc>aAc	p.S1985N	PLCE1_ENST00000371380.2_Missense_Mutation_p.S1985N|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1677N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1677N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1985					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCATTAACAGCAGAAGGATG	0.393000													6	130					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036200	102036200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102036200G>T	ENST00000549145.1	+	10	733	c.633G>T	c.(631-633)gaG>gaT	p.E211D	MYBPC1_ENST00000551300.1_Missense_Mutation_p.E99D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E179D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E184D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E185D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E172D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E186D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E198D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	198					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGGTTAGGGAGGTGAAGCAGC	0.498000													8	22					0.00621372	0.00652201	1	1	0
UBAP2	55833	broad.mit.edu	37	9	33926987	33926987	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33926987C>T	ENST00000379238.1	-	21	2580	c.2463_splice	c.e21+1	p.P821_splice	UBAP2_ENST00000360802.1_Splice_Site_p.P821_splice|UBAP2_ENST00000379239.4_Splice_Site_p.P554_splice|UBAP2_ENST00000539807.1_Splice_Site_p.P576_splice|UBAP2_ENST00000379235.1_Splice_Site_p.P60_splice|UBAP2_ENST00000449054.1_Splice_Site_p.P821_splice			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	821										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATACACTCACCGGGTAGGCAG	0.647000													5	28					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504340	220504340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220504340G>A	ENST00000358055.3	+	20	3672	c.3160G>A	c.(3160-3162)Gtc>Atc	p.V1054I	SLC4A3_ENST00000373760.2_Missense_Mutation_p.V1054I|SLC4A3_ENST00000317151.3_Missense_Mutation_p.V1054I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V1081I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V1081I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1054	Membrane (anion exchange).			V -> I (in Ref. 3; AAN34939).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.V1081I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCGCTCCGTCACCCATGT	0.652000													25	28					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851948	71851948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71851948G>T	ENST00000377245.4	+	14	2283	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M	TJP2_ENST00000453658.2_Missense_Mutation_p.R669M|TJP2_ENST00000265384.7_Missense_Mutation_p.R692M|TJP2_ENST00000539225.1_Missense_Mutation_p.R723M|TJP2_ENST00000535702.1_Missense_Mutation_p.R696M|TJP2_ENST00000348208.4_Missense_Mutation_p.R692M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	692	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.R692M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGTGGCCAGAGGTCTGGGGTG	0.532000													5	181					0.00116845	0.00124821	1	1	0
PNISR	25957	broad.mit.edu	37	6	99848985	99848985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99848985G>A	ENST00000369239.5	-	12	2053	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	PNISR_ENST00000438806.1_Missense_Mutation_p.R617C	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	617						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACTTCTACGTCTCTCTCGG	0.443000													40	51					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98375500	98375500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375500G>A	ENST00000186436.5	-	40	5451	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1741	Ser-rich.					integral to membrane		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463000													27	56					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131540345	131540345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131540345G>A	ENST00000538204.1	-	2	168	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	MBNL3_ENST00000394311.2_5'UTR|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370849.3_Missense_Mutation_p.R35W|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370857.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370853.3_Missense_Mutation_p.R85W	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	85					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AGATTGTTCCGCCCATTAATC	0.483000													5	98					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26114289	26114289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26114289C>T	ENST00000324198.5	+	19	1924	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	578	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCAGTGGCAGCGTCGCTATTT	0.488000													50	63					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310941	143310941	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143310941C>A	ENST00000524325.1	-	13	1619		c.e13-1		TSNARE1_ENST00000307180.3_Splice_Site|TSNARE1_ENST00000520166.1_Splice_Site			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCTGGAGCTGGGAGAGAG	0.537000													11	20					3.86212e-05	4.30401e-05	1	1	0
ZNF766	90321	broad.mit.edu	37	19	52793382	52793382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52793382C>T	ENST00000439461.1	+	4	381	c.338C>T	c.(337-339)aCc>aTc	p.T113I	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.T128I|ZNF766_ENST00000359102.4_Missense_Mutation_p.T128I|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CTTGGATTAACCTTTCAGTTA	0.393000													31	32					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562000													30	56					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881013	50881013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50881013G>A	ENST00000253727.5	+	4	302	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NR1H2_ENST00000599105.1_Missense_Mutation_p.A23T|NR1H2_ENST00000598168.1_Missense_Mutation_p.A23T|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.A23T|NR1H2_ENST00000593926.1_Missense_Mutation_p.A23T	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCAGCCTGGCGCCCCTTCTTC	0.632000													12	20					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131488	150131488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150131488C>T	ENST00000369124.4	+	6	1278	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.R300*|PLEKHO1_ENST00000369126.1_Nonsense_Mutation_p.R151*	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	334	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGGGAAGCGAAAGGCCAA	0.617000													23	57					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077836	57077836	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077836C>A	ENST00000532437.1	-	5	2660	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.G783G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	783	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G783G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTCCCTTCCCCTGCTCCTT	0.627000													10	77					1.58986e-06	1.84011e-06	1	1	0
MRPL51	51258	broad.mit.edu	37	12	6601555	6601555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6601555C>T	ENST00000229238.3	-	3	730	c.269G>A	c.(268-270)cGt>cAt	p.R90H	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	90					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCGGATACAACGTTGCAATTC	0.438000													128	173					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015771	21015771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21015771T>C	ENST00000381545.3	+	8	929	c.710T>C	c.(709-711)aTt>aCt	p.I237T	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I237T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	237					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TACGTGGATATTGGATATGTA	0.358000													22	48					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986192	89986192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89986192A>G	ENST00000555427.1	+	3	2829	c.526A>G	c.(526-528)Agc>Ggc	p.S176G	TUBB3_ENST00000556922.1_Missense_Mutation_p.S176G|MC1R_ENST00000555147.1_Missense_Mutation_p.S176G					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCGTCTTCAGCACGCTCTT	0.627000									Melanoma, Familial Clustering of				9	47					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616311	79616311	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616311G>T	ENST00000296739.4	+	1	522	c.277G>T	c.(277-279)Gca>Tca	p.A93S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACAGAAGCAAAAGAACT	0.318000													20	41					3.8784e-16	4.99462e-16	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94874795	94874795	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874795A>G	ENST00000262554.2	-	2	112	c.107T>C	c.(106-108)aTc>aCc	p.I36T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.I36T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	36						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGAAGTCTGATTATCCAGAG	0.343000													3	77					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037030	153037030	+	Missense_Mutation	SNP	G	G	A	rs144601801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037030G>A	ENST00000538966.1	+	15	2777	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	PLXNB3_ENST00000361971.5_Missense_Mutation_p.G813S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G466S|PLXNB3_ENST00000538282.1_Missense_Mutation_p.G423S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	813	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCTGACGGCCAGCCTGC	0.682000													8	14					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676125	11676125	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11676125C>T	ENST00000423059.3	-	2	905	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	218	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACATGACGCGTCCGGTGCT	0.612000										HNSCC(18;0.044)			9	23					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745329	135745329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135745329C>T	ENST00000375845.3	-	7	1143	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MAP3K19_ENST00000358371.4_Silent_p.K258K|MAP3K19_ENST00000392915.1_Silent_p.K388K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AACTCTCATTCTTTCTTGATG	0.383000													23	43					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392419	135392419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135392419C>T	ENST00000442011.2	+	12	1774	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	TGFBI_ENST00000305126.8_Missense_Mutation_p.T538I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	538	FAS1 4.		T -> R (in CDL1; delayed age of onset).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTACACAGTCTTTGCT	0.507000													9	37					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978330	1978330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978330G>A	ENST00000255641.8	+	3	709	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	72	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGAATACGTGGCTATCAA	0.642000													4	42					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442282	103442282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103442282G>A	ENST00000361246.2	-	10	1613	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	442					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCTCGTAAGCTTCCATCTG	0.592000													32	41					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811954	116811954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811954C>T	ENST00000288466.7	+	14	2192	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.A791V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCCTGGAGGCGCTCAAGGAG	0.637000													10	47					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789941	52789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52789941G>A	ENST00000257974.2	-	7	1221	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	382	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCCCTGCCAGCTTGCACTTG	0.597000													12	17					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573045	53573045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53573045G>A	ENST00000601421.1	-	3	1510	c.634C>T	c.(634-636)Cga>Tga	p.R212*	ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000429604.1_Nonsense_Mutation_p.R248*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	248					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGCTTTTCGTCTTTGTGTG	0.373000													48	91					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320254	247320254	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247320254G>A	ENST00000340684.6	-	4	622	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ZNF124_ENST00000543802.2_Missense_Mutation_p.H224Y|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTTCTTTCATGGTAATGAAGG	0.443000													6	100					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864183	9864183	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9864183G>A	ENST00000380913.3	+	4	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	745	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCCACCCGCCCCGCATCG	0.627000													5	7					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868844	74868844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74868844G>A	ENST00000428789.2	+	1	116	c.13G>A	c.(13-15)Gta>Ata	p.V5I	MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron|MGAT5B_ENST00000301618.4_Intron	NM_198955.1	NP_945193.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	0						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCATTCGTAAAACATTT	0.572000													5	11					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077759	95077759	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95077759T>C	ENST00000545558.1	-	7	1640	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	NOL8_ENST00000358855.4_Missense_Mutation_p.E315G|NOL8_ENST00000442668.2_Missense_Mutation_p.E383G|NOL8_ENST00000535387.1_Missense_Mutation_p.E383G|NOL8_ENST00000542053.1_Missense_Mutation_p.E315G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	383					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCAATAATTTCATCTGTATC	0.308000													8	14					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107715311	107715311	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107715311T>G	ENST00000445937.1	+	8	1114	c.853T>G	c.(853-855)Tta>Gta	p.L285V	OXR1_ENST00000497705.1_Missense_Mutation_p.L218V|OXR1_ENST00000312046.6_Missense_Mutation_p.L278V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.L286V|OXR1_ENST00000517566.2_Missense_Mutation_p.L285V|OXR1_ENST00000531443.1_Missense_Mutation_p.L285V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	286					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGGAATCTTTACCCATGTA	0.333000													33	33					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788961	5788961	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788961C>T	ENST00000328090.5	+	15	4202	c.3577C>T	c.(3577-3579)Cta>Tta	p.L1193L		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1193																	TCTCCTCGGCCTATCTTCAGA	0.468000													38	53					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3843551	3843551	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3843551C>T	ENST00000262367.5	-	4	1861	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CREBBP_ENST00000382070.3_Missense_Mutation_p.R351H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	351	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TATCAGTTTGCGTTTTTCAGG	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						29	37					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33418801	33418801	+	Silent	SNP	C	C	T	rs139204865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33418801C>T	ENST00000484457.1	+	11	916	c.825C>T	c.(823-825)gaC>gaT	p.D275D	FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Silent_p.D191D|FBXL2_ENST00000507198.1_Silent_p.D207D|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.D207D	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	275					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTTGACTGACGCAGGTTTTA	0.423000													27	60					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47781573	47781573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47781573G>T	ENST00000240333.6	-	6	665	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L219M			P78383	S35B1_HUMAN	solute carrier family 35, member B1	182						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTCCATCCAGGGTCAGCGAT	0.532000													16	25					3.41278e-10	4.19267e-10	1	1	0
PPP2CA	5515	broad.mit.edu	37	5	133534873	133534873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133534873C>T	ENST00000481195.1	-	6	1041	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTACATTCCGGTCATGGCA	0.368000													19	48					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84465730	84465730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84465730G>A	ENST00000395226.2	+	3	401	c.183G>A	c.(181-183)tcG>tcA	p.S61S	AGPAT9_ENST00000264409.4_Silent_p.S61S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	61					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAAAGGAGTCGATTCTTAAAA	0.343000													59	84					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193472	68193472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68193472G>A	ENST00000294304.7	+	16	3560	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1152	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGAGGACGCCAACATCGT	0.637000													29	38					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234862630	234862630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234862630G>A	ENST00000324695.4	+	10	1250	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.V92M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	404						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATGAAATTGTGAGCAATGC	0.393000													11	16					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948125	5948125	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948125A>G	ENST00000378896.3	+	9	1296	c.919A>G	c.(919-921)Att>Gtt	p.I307V	MCM8_ENST00000265187.4_Missense_Mutation_p.I307V|MCM8_ENST00000378886.2_Missense_Mutation_p.I307V|MCM8_ENST00000378883.1_Missense_Mutation_p.I307V	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	307					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCAGGTCGGATTCCACGAAC	0.393000													7	83					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744064	135744064	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135744064T>A	ENST00000375845.3	-	7	2408	c.2378A>T	c.(2377-2379)gAg>gTg	p.E793V	MAP3K19_ENST00000358371.4_Missense_Mutation_p.E680V|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E810V|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CATGGACTGCTCAGGTGTCTG	0.398000													31	64					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168276093	168276093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168276093G>T	ENST00000366806.2	+	5	799	c.657G>T	c.(655-657)gaG>gaT	p.E219D	MLLT4_ENST00000400822.3_Missense_Mutation_p.E218D|MLLT4_ENST00000392112.1_Missense_Mutation_p.E218D|MLLT4_ENST00000344191.4_Missense_Mutation_p.E219D|MLLT4_ENST00000351017.4_Missense_Mutation_p.E219D|MLLT4_ENST00000392108.3_Missense_Mutation_p.E219D|MLLT4_ENST00000447894.2_Missense_Mutation_p.E219D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	219					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAATCCTGAGGTGGTTATGA	0.423000			T	MLL	AL								20	203					1.33834e-09	1.62941e-09	1	1	0
FAM111A	63901	broad.mit.edu	37	11	58920195	58920195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58920195C>T	ENST00000528737.1	+	5	3872	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	FAM111A_ENST00000361723.3_Missense_Mutation_p.R352C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R352C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R352C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R352C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	352					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACTTCTTGTACGTCTCAGTGA	0.368000													45	72					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146719914	146719914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146719914C>T	ENST00000392299.2	+	8	2209	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM1_ENST00000507907.1_Missense_Mutation_p.P580L|GRM1_ENST00000282753.1_Missense_Mutation_p.P580L|GRM1_ENST00000361719.2_Missense_Mutation_p.P580L|GRM1_ENST00000355289.4_Missense_Mutation_p.P580L|GRM1_ENST00000492807.2_Missense_Mutation_p.P580L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	580					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTGTGAGCCCATTCCTGTG	0.428000													56	70					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24324914	24324914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24324914C>T	ENST00000407573.1	+	3	345	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	NPY_ENST00000405982.1_Missense_Mutation_p.L19F|NPY_ENST00000242152.2_Missense_Mutation_p.L19F			P01303	NPY_HUMAN	neuropeptide Y	19					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCTGTCCCTGCTCGTGTGCCT	0.657000													40	44					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155447933	155447933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155447933C>A	ENST00000368346.3	-	3	5367	c.4728G>T	c.(4726-4728)caG>caT	p.Q1576H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1576H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1576					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACAGTCAATCTGTAAAGGTG	0.458000													34	30					2.20474e-14	2.81294e-14	1	1	0
ZNF232	7775	broad.mit.edu	37	17	5009499	5009499	+	Missense_Mutation	SNP	C	C	T	rs140021055		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5009499C>T	ENST00000250076.3	-	5	1609	c.955G>A	c.(955-957)Gtt>Att	p.V319I	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.V310I	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGTGGACAACAAGATGTGAG	0.413000													55	74					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715670	77715670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77715670G>A	ENST00000298351.4	+	21	2051	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	636						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTGACGGATCGCTATAACATG	0.537000													4	70					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113235565	113235565	+	Missense_Mutation	SNP	G	G	A	rs141446456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113235565G>A	ENST00000529221.1	+	21	1930	c.1825G>A	c.(1825-1827)Gtt>Att	p.V609I	TTC12_ENST00000314756.3_Missense_Mutation_p.V609I|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.V615I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	609							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGAGTTGAGCGTTATGATGAA	0.542000													16	17					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719072	35719072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35719072G>T	ENST00000324675.3	-	1	560	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	171						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCCTCCAGAGGCTCCTCAAT	0.617000													5	48					3.59834e-05	4.01776e-05	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129275975	129275975	+	Missense_Mutation	SNP	G	G	A	rs141415531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129275975G>A	ENST00000324093.4	-	34	5715	c.5537C>T	c.(5536-5538)aCg>aTg	p.T1846M	PLXND1_ENST00000504689.1_Missense_Mutation_p.T2M|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1846					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGAGCGGCGTCATGTCCTG	0.617000													26	33					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75133660	75133660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75133660G>A	ENST00000539798.1	-	6	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	KLHL35_ENST00000376292.4_Silent_p.H352H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	352										lung(2)|stomach(1)	3						TGACACAGCCGTGGGAGCTGG	0.612000													8	56					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721704	73721704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73721704G>A	ENST00000427855.1	+	14	1707	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	PAPLN_ENST00000340738.5_Silent_p.T508T|PAPLN_ENST00000381166.3_Silent_p.T535T|PAPLN_ENST00000554301.1_Silent_p.T535T|PAPLN_ENST00000555445.1_Silent_p.T535T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	535	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGTAACACGCAGCCCTGTC	0.642000													7	12					0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608039	127608039	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127608039T>C	ENST00000368314.1	+	3	705	c.281T>C	c.(280-282)cTc>cCc	p.L94P	RNF146_ENST00000356799.2_Missense_Mutation_p.L93P|RNF146_ENST00000309649.3_Missense_Mutation_p.L93P	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	94	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CCAGAAGAACTCAAGGCAGCA	0.463000													14	38					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43253759	43253759	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43253759C>T	ENST00000255226.6	+	18	3305	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.T830M|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.T307M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	830						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGCAGACGCACCTCCTC	0.478000													23	32					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166958631	166958631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:166958631C>T	ENST00000367872.4	+	1	286	c.42C>T	c.(40-42)ttC>ttT	p.F14F	MAEL_ENST00000367870.2_Silent_p.F14F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	14					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTATTTCTTCGTGCAGGAGA	0.617000													3	4					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54224904	54224904	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54224904T>C	ENST00000354646.2	-	24	5694	c.5256A>G	c.(5254-5256)gtA>gtG	p.V1752V	WNK3_ENST00000375159.2_Silent_p.V1752V|WNK3_ENST00000375169.3_Silent_p.V1695V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1695					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTACCCACTGTACTGGATACC	0.493000													4	43					0	0	1	0	0
C1orf52	148423	broad.mit.edu	37	1	85724362	85724362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85724362G>A	ENST00000471115.1	-	2	328	c.320C>T	c.(319-321)cCt>cTt	p.P107L	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.P107L	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	107										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GGTCTCAGGAGGTGGTACATA	0.453000													3	50					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45392018G>A	ENST00000389039.6	-	25	3642	c.3257C>T	c.(3256-3258)aCg>aTg	p.T1086M	DUOX2_ENST00000603300.1_Missense_Mutation_p.T1086M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1086	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567000													9	29					0	0	1	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015591	53015591	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53015591C>T	ENST00000599143.1	-	0	4																											TGTAGGGAAACTTGACTAATG	0.393000													4	49					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478000													24	39					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366664	220366664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220366664G>A	ENST00000358215.3	+	5	703	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	GMPPA_ENST00000373908.1_Missense_Mutation_p.V112M|GMPPA_ENST00000373917.3_Missense_Mutation_p.V112M|GMPPA_ENST00000313597.5_Missense_Mutation_p.V112M|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.V112M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	112					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCATTCTTCGTGCTCAATGC	0.577000													52	93					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500881	118500881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500881G>T	ENST00000311085.8	+	21	4956	c.4876G>T	c.(4876-4878)Gct>Tct	p.A1626S	DMXL1_ENST00000539542.1_Missense_Mutation_p.A1626S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1626										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTATAGGTAGCTAAAGCAGC	0.313000													12	28					7.03913e-09	8.47891e-09	1	1	0
CLK3	1198	broad.mit.edu	37	15	74911560	74911560	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74911560G>A	ENST00000395066.3	+	2	928	c.467G>A	c.(466-468)cGc>cAc	p.R156H	CLK3_ENST00000352989.5_Missense_Mutation_p.R8H|CLK3_ENST00000345005.4_Missense_Mutation_p.R8H|CLK3_ENST00000348245.3_Missense_Mutation_p.R8H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	156						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AAGCGATACCGCTCCCCTGAA	0.607000													51	78					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973987	30973987	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30973987C>T	ENST00000298139.5	+	20	2640	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	797	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCATGCGGGCATGAGTTTTA	0.398000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				39	68					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23299713	23299713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23299713C>T	ENST00000258733.4	+	5	951	c.656C>T	c.(655-657)gCa>gTa	p.A219V	GPNMB_ENST00000539136.1_Missense_Mutation_p.A120V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A219V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A161V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	219					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CATGGACGGGCATATGTTCCC	0.468000													37	49					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909330	36909330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36909330G>A	ENST00000451493.1	-	2	855	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SPG20_ENST00000438666.2_Missense_Mutation_p.T213I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.T213I|SPG20_ENST00000355182.4_Missense_Mutation_p.T213I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	213					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGCCCTAAGGTCTCAAGAGG	0.443000													27	38					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224836	49224836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:49224836C>T	ENST00000371833.3	-	3	567	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	161										large_intestine(5)|lung(2)|skin(1)	8						GAGGCCTCCACGAAGACCTCT	0.612000													7	13					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705510	181705510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181705510G>A	ENST00000526775.1	+	21	3470	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R728H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1072H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1121H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1102H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1121H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1053H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1121					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aaggagaagCGTGAGACAGGC	0.547000													3	13					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373204	59373204	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59373204C>A	ENST00000348370.4	+	8	2451	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RNF111_ENST00000559209.1_Missense_Mutation_p.P673H|RNF111_ENST00000434298.1_Missense_Mutation_p.P673H|RNF111_ENST00000557998.1_Missense_Mutation_p.P673H|RNF111_ENST00000561186.1_Missense_Mutation_p.P673H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	673	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACCCCCCTCCTCAGACTCAG	0.448000													7	126					3.09899e-07	3.63227e-07	1	1	0
SATB1	6304	broad.mit.edu	37	3	18457582	18457582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18457582G>A	ENST00000338745.6	-	4	2166	c.432C>T	c.(430-432)taC>taT	p.Y144Y	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Silent_p.Y144Y|SATB1_ENST00000417717.2_Silent_p.Y144Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	144	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATCTGTCACGTAAGACAGTG	0.388000													32	61					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206760238	206760238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206760238G>A	ENST00000304534.8	+	5	1135	c.726G>A	c.(724-726)gtG>gtA	p.V242V	RASSF5_ENST00000355294.4_Silent_p.V395V|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000338603.2_Intron	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	395					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAACAAGTGCAAAAGAAGT	0.502000													42	56					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675687	100675687	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675687T>G	ENST00000306151.4	+	3	1054	c.990T>G	c.(988-990)acT>acG	p.T330T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	330	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTTATACTGAAGGAAGCA	0.493000													13	208					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81606117	81606117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81606117C>T	ENST00000541158.2	+	10	1109	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L263F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	263					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTAAGAAACTTCCACTTTC	0.483000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						22	24					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36684352	36684352	+	Silent	SNP	G	G	A	rs143947828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36684352G>A	ENST00000216181.5	-	34	5108	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1626			I -> V (in dbSNP:rs2269529).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCGAGTCGATGTGCGCCT	0.647000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				50	70					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828648	88828648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88828648G>T	ENST00000303254.3	+	4	341	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W		NM_152670.2	NP_689883.1			testis expressed 37																		GCTAACAGATGGGTACCCTGC	0.547000													19	37					1.67942e-08	2.01326e-08	1	1	0
STAG2	10735	broad.mit.edu	37	X	123179218	123179218	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123179218G>T	ENST00000371160.1	+	8	957	c.667_splice	c.e8+1	p.A223_splice	STAG2_ENST00000354548.5_Splice_Site_p.A154_splice|STAG2_ENST00000218089.9_Splice_Site_p.A223_splice|STAG2_ENST00000371145.3_Splice_Site_p.A223_splice|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site_p.A223_splice|STAG2_ENST00000371157.3_Splice_Site_p.A223_splice			Q8N3U4	STAG2_HUMAN	stromal antigen 2	223					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CACCCTGGCAGGTCGGTATTT	0.323000													6	194					0.00116845	0.00124821	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73426150	73426150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73426150C>T	ENST00000377106.1	-	7	879	c.525G>A	c.(523-525)ccG>ccA	p.P175P	TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000358082.3_Silent_p.P175P|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000423814.3_Silent_p.P330P|TRPM3_ENST00000360823.2_Silent_p.P175P|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396283.1_Silent_p.P175P|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Silent_p.P175P|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396285.1_Intron	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	328						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGAGAAAAACGGCAGGCATC	0.338000													5	11					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961728	26961728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26961728C>T	ENST00000528896.2	-	16	2951	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.M816I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	959						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGCCCGGCGCATGGGTGTGT	0.527000													10	100					0	0	1	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32557480	32557480	+	Missense_Mutation	SNP	C	C	T	rs17878475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32557480C>T	ENST00000360004.5	-	1	145	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACTGTCAGCGCTGTCATGCAG	0.592000										Multiple Myeloma(14;0.17)			5	48					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33501898	33501898	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501898G>A	ENST00000360596.2	+	6	854		c.e6-1		ACSS2_ENST00000336325.4_Splice_Site|ACSS2_ENST00000253382.5_Splice_Site|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCCCCAAAGATGCCTTCTA	0.542000													5	20					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260482	30260482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260482C>A	ENST00000359358.4	-	6	1757	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	440						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCACTCCACGCTGGACAAGTA	0.473000													10	40					3.86212e-05	4.30401e-05	1	1	0
THOC6	79228	broad.mit.edu	37	16	3075782	3075782	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075782T>C	ENST00000326266.8	+	2	409	c.113T>C	c.(112-114)tTt>tCt	p.F38S	THOC6_ENST00000575576.1_Missense_Mutation_p.F14S|THOC6_ENST00000253952.9_Missense_Mutation_p.F38S|THOC6_ENST00000574549.1_Missense_Mutation_p.F14S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	38					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTGGGAAGTTTCTGGCGGCT	0.582000													24	40					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587656	204587656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587656C>T	ENST00000367175.1	-	1	3677	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	LRRN2_ENST00000367176.3_Missense_Mutation_p.A489T|LRRN2_ENST00000367177.3_Missense_Mutation_p.A489T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	489	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCTCTTCTGCTGTCACCCTC	0.637000													15	26					0	0	1	0	0
CYB561	1534	broad.mit.edu	37	17	61511949	61511949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61511949C>A	ENST00000392976.1	-	6	869	c.570G>T	c.(568-570)aaG>aaT	p.K190N	CYB561_ENST00000392975.2_Missense_Mutation_p.K190N|CYB561_ENST00000448884.2_Missense_Mutation_p.V138L|CYB561_ENST00000360793.3_Missense_Mutation_p.K190N|CYB561_ENST00000582997.1_Missense_Mutation_p.K197N|CYB561_ENST00000542042.1_Missense_Mutation_p.K257N|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.K161N|CYB561_ENST00000581573.1_Missense_Mutation_p.K190N|CYB561_ENST00000582297.1_Intron	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	190	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ATGCGCTATACTTGCCCCTGC	0.602000													4	9					0.150653	0.152692	1	1	0
PSG4	5672	broad.mit.edu	37	19	43708105	43708105	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43708105G>T	ENST00000405312.3	-	2	600	c.363C>A	c.(361-363)acC>acA	p.T121T	PSG4_ENST00000244295.9_Silent_p.T121T|PSG4_ENST00000433626.2_Silent_p.T121T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.483000													82	135					2.80266e-47	3.78813e-47	1	1	0
GLA	2717	broad.mit.edu	37	X	100662704	100662704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662704C>T	ENST00000218516.3	-	1	209	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	63					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ATACCTGATGCAGGAATCTGG	0.537000													5	98					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26777268	26777268	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26777268T>C	ENST00000381340.3	-	24	3502	c.3086A>G	c.(3085-3087)gAa>gGa	p.E1029G	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1029					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGCAATTTCATCTATATC	0.284000													11	104					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117096678	117096678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117096678G>A	ENST00000320934.3	-	6	1459	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	277	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATCTGATAGTGCTTGTTGAAC	0.542000			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700541	7700541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7700541T>C	ENST00000303635.7	+	7	799	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S198P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTCTGCTCCATCAACAC	0.622000			T	WWTR1	epitheliod hemangioendothelioma								24	29					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112329661	112329661	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112329661C>T	ENST00000369697.1	-	2	1243	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	KCND3_ENST00000302127.4_Missense_Mutation_p.V392I|KCND3_ENST00000315987.2_Missense_Mutation_p.V392I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	392						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGACCAGGACGCCACTCAAG	0.517000													13	37					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929296	135929296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929296C>T	ENST00000372097.5	+	6	1278	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GTF3C5_ENST00000342018.8_Missense_Mutation_p.L250F|GTF3C5_ENST00000372099.6_Missense_Mutation_p.L310F|GTF3C5_ENST00000372108.5_Missense_Mutation_p.L319F|GTF3C5_ENST00000372095.5_Missense_Mutation_p.L194F	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	319						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TTATCAAGTCCTCGATTTCCG	0.458000													16	23					0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473040	45473040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45473040C>A	ENST00000298295.3	-	2	656	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	147						mitochondrion				lung(1)	1						CCTCTGGGGGCCCCCATGGGC	0.622000													18	21					2.35188e-11	2.93101e-11	1	1	0
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31899543C>T	ENST00000373710.1	+	7	953	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.A218V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V|SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	218						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597000													44	67					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474692	32474692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32474692C>T	ENST00000404025.2	-	5	2729	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.Q747Q|NLRC4_ENST00000360906.5_Silent_p.Q747Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	747					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCGTTGATTCTGTAGGTCAT	0.393000													84	138					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933544	6933544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6933544C>T	ENST00000311268.3	+	2	1267	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAACAACGGCGAGCGCTACT	0.577000													11	17					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25463906	25463906	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463906G>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CAGGGCCACTGTATTTTGGAC	0.552000													28	50					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144400187	144400187	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144400187C>T	ENST00000523676.1	-	10	1327		c.e10+1		TOP1MT_ENST00000329245.4_Splice_Site|TOP1MT_ENST00000519148.1_Splice_Site|TOP1MT_ENST00000521193.1_Splice_Site			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial						DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCGGCTTACGGTCAGCCTG	0.582000													14	25					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350824	79350824	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79350824C>T	ENST00000419573.3	-	3	658		c.e3-1		RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCTGTAGCTGTGGACAGA	0.587000													3	37					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054165	177054165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:177054165G>A	ENST00000331462.4	+	1	859	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGTGAAGAGGAATGCCTCTA	0.662000													4	14					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756437	148756437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148756437C>T	ENST00000261796.3	-	2	223	c.173G>A	c.(172-174)cGc>cAc	p.R58H	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	58					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCATGCGGGCATACGG	0.617000													43	45					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158655019	158655019	+	Missense_Mutation	SNP	T	T	G	rs121918644		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158655019T>G	ENST00000368148.3	-	2	323	c.143A>C	c.(142-144)aAg>aCg	p.K48T	SPTA1_ENST00000368147.3_Missense_Mutation_p.K48T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	48			K -> R (in HPP).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					atcctcaagcttctgaccccT	0.463000													4	73					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77383090	77383090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77383090C>A	ENST00000308488.6	-	15	4050	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.E1219*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E998*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1250					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCCTTACCTTCACTCTCTGAG	0.413000													66	97					8.3131e-28	1.11021e-27	1	1	0
HLA-DMB	3109	broad.mit.edu	37	6	32906533	32906533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32906533G>A	ENST00000416244.2	-	2	459	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	89	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552000													40	53					0	0	1	0	0
GPX4	2879	broad.mit.edu	37	19	1106423	1106423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1106423G>A	ENST00000354171.8	+	6	633	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GPX4_ENST00000589115.1_Silent_p.A167A	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	176					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	GAACGGCTGCGTGGTGAAGCG	0.647000													13	44					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15814801	15814801	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814801T>G	ENST00000338282.6	-	33	4792	c.4686A>C	c.(4684-4686)aaA>aaC	p.K1562N	MYH11_ENST00000396324.3_Missense_Mutation_p.K1569N|MYH11_ENST00000576790.1_Missense_Mutation_p.K1562N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.K1569N|MYH11_ENST00000300036.5_Missense_Mutation_p.K1562N|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1562					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCCGCAGTTTGGCGTCCT	0.602000			T	CBFB	AML								30	72					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11332616	11332616	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11332616T>C	ENST00000294618.7	-	28	3472	c.3461A>G	c.(3460-3462)gAg>gGg	p.E1154G	DOCK6_ENST00000319867.7_Missense_Mutation_p.E493G	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1154					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACAGTGGCCTCGGCGTAGCG	0.592000													10	73					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2116215	2116215	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2116215C>T	ENST00000355272.6	-	18	2270	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	AP3D1_ENST00000345016.5_Silent_p.S688S|AP3D1_ENST00000356926.4_Silent_p.S597S|AP3D1_ENST00000350812.6_Silent_p.S519S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	688					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTGTGGCGATGGCGAGC	0.652000													8	20					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70614326	70614326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70614326C>T	ENST00000370952.3	-	14	1626	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	516								p.R516H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TGTGAAGATACGATATAGAAC	0.338000													6	67					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153223328	153223328	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153223328G>T	ENST00000310441.7	-	12	3004	c.2038C>A	c.(2038-2040)Ctg>Atg	p.L680M	HCFC1_ENST00000369984.4_Missense_Mutation_p.L680M|HCFC1_ENST00000354233.3_Missense_Mutation_p.L611M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	680	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGCCCAGATTGGAAATC	0.562000													24	38					3.6726e-16	4.7309e-16	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2226610	2226610	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2226610G>A	ENST00000398665.3	+	27	4126	c.4090G>A	c.(4090-4092)Gcc>Acc	p.A1364T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1364						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCGGACGCCAACCCTTT	0.706000													8	5					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143190	179143190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179143190C>A	ENST00000247461.4	+	8	1006	c.806C>A	c.(805-807)cCt>cAt	p.P269H	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.P269H|CANX_ENST00000415618.2_Missense_Mutation_p.P304H|CANX_ENST00000512607.2_Missense_Mutation_p.P161H|CANX_ENST00000504734.1_Missense_Mutation_p.P269H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	269					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGACTCCTCCTGTAAATCCT	0.423000													7	99					0.00307968	0.00325696	1	1	0
KIF16B	55614	broad.mit.edu	37	20	16486692	16486692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486692A>G	ENST00000354981.2	-	8	1000	c.843T>C	c.(841-843)acT>acC	p.T281T	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.T281T|KIF16B_ENST00000355755.3_Silent_p.T281T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	281	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGTTCCCCAGAGTCACGAGGG	0.512000													4	87					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31858998	31858998	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31858998G>T	ENST00000397525.1	-	6	930	c.707C>A	c.(706-708)aCt>aAt	p.T236N	RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T236N|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T236N|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	236						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCAAAGCCAGTCAGTTCGAT	0.453000													4	53					2.56e-06	2.9446e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179418746	179418746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179418746G>A	ENST00000589042.1	-	333	89316	c.89092C>T	c.(89092-89094)Ctc>Ttc	p.L29698F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20633F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27130F|TTN_ENST00000359218.5_Missense_Mutation_p.L20758F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20825F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L28057F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28057	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGTGAGTCCTGTTACT	0.408000													40	76					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111382077	111382077	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111382077C>A	ENST00000428084.1	-	45	5061	c.4789G>T	c.(4789-4791)Ggg>Tgg	p.G1597W	DOCK4_ENST00000437633.1_Missense_Mutation_p.G1588W|DOCK4_ENST00000494651.2_Missense_Mutation_p.G471W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1588	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGTATCCCTAAGCTCGAC	0.448000													5	73					1.23904e-05	1.39987e-05	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20249132	20249132	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20249132C>A	ENST00000315957.4	+	1	732	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTAATGTCCTATGCCTTCC	0.488000													14	246					1.5842e-08	1.90059e-08	1	1	0
UBE2D4	51619	broad.mit.edu	37	7	43982631	43982631	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43982631G>T	ENST00000222402.2	+	4	287		c.e4+1		POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Splice_Site|UBE2D4_ENST00000446008.1_Splice_Site	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCCCCCAAAGGTGAGGTCCCT	0.498000													54	51					6.60958e-23	8.73533e-23	1	1	0
RER1	11079	broad.mit.edu	37	1	2328570	2328570	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2328570C>T	ENST00000605895.1	+	3	230	c.97C>T	c.(97-99)Cta>Tta	p.L33L	RER1_ENST00000378513.3_Silent_p.L33L|RER1_ENST00000488353.1_Silent_p.L33L|RER1_ENST00000378518.1_Silent_p.L33L|RER1_ENST00000378512.1_Silent_p.L33L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	33					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCAGTCCTGGCTAGACAAGTC	0.502000													24	52					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443842	3443842	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3443842C>T	ENST00000382774.3	+	1	229	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HGFAC_ENST00000511533.1_Silent_p.G38G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	38					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGCCTGGCGGGGTGAGCA	0.711000													9	16					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230372444C>T	ENST00000366672.4	+	6	652	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT2_ENST00000541865.1_Nonsense_Mutation_p.R104*|GALNT2_ENST00000543760.1_Nonsense_Mutation_p.R156*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	194	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403000													11	116					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622249	202622249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202622249G>A	ENST00000264276.6	-	5	1719	c.1347C>T	c.(1345-1347)agC>agT	p.S449S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTCTTCCCTGCTATCTTTCA	0.438000													39	85					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960239	33960239	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960239C>A	ENST00000361328.3	+	8	2448	c.2295C>A	c.(2293-2295)ccC>ccA	p.P765P		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	765					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCCTATAAATGCC	0.433000													32	65					2.48696e-23	3.29125e-23	1	1	0
GRPR	2925	broad.mit.edu	37	X	16170513	16170513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16170513C>T	ENST00000380289.2	+	3	1298	c.900C>T	c.(898-900)caC>caT	p.H300H		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCATGCTCCACTTTGTCACCA	0.557000													53	87					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082671	152082671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082671G>A	ENST00000368804.1	-	2	3021	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1008	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttctcccgttcctctctc	0.577000													38	58					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921309	921309	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:921309G>A	ENST00000262301.11	-	7	948	c.930C>T	c.(928-930)ttC>ttT	p.F310F	LMF1_ENST00000399843.2_Silent_p.F310F|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.F93F|LMF1_ENST00000543238.1_Silent_p.F73F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	310						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGTTCAGGAAGCTGAGGT	0.652000													3	14					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650826	121650826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650826A>G	ENST00000393386.2	+	12	2137	c.1726A>G	c.(1726-1728)Agt>Ggt	p.S576G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	576					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTATTGACCAGTTTCAAGCT	0.403000													3	61					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58575424	58575424	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58575424A>C	ENST00000317147.5	-	34	5113	c.4781T>G	c.(4780-4782)tTt>tGt	p.F1594C	CNOT1_ENST00000569240.1_Missense_Mutation_p.F1589C|CNOT1_ENST00000245138.4_Missense_Mutation_p.F445C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1594					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGGCTAAAAATCCCGTGGG	0.383000													15	116					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2594056	2594056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2594056C>A	ENST00000340611.4	-	2	266	c.10G>T	c.(10-12)Gaa>Taa	p.E4*		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	4					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGGGCGCATTCTGGGTCCATG	0.597000													4	52					0.150653	0.152692	1	1	0
TAS2R13	50838	broad.mit.edu	37	12	11061323	11061323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11061323G>T	ENST00000390677.2	-	1	838	c.575C>A	c.(574-576)aCt>aAt	p.T192N	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	192					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGGCCACAGTAAATGGTGT	0.388000													14	81					0.000151284	0.000166931	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91671467	91671467	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91671467T>G	ENST00000359028.2	+	20	5286	c.5061T>G	c.(5059-5061)tgT>tgG	p.C1687W	AKAP9_ENST00000358100.2_Missense_Mutation_p.C1687W|AKAP9_ENST00000356239.3_Missense_Mutation_p.C1675W			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1687					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGCTGTGTTGTGAGCTGC	0.463000			T	BRAF	papillary thyroid								4	69					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761672	92761672	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761672G>T	ENST00000318238.4	-	5	4829	c.3613C>A	c.(3613-3615)Ctt>Att	p.L1205I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1205I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1205I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1205										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGTAAAGACCAACTTCT	0.373000													55	184					1.63038e-21	2.14664e-21	1	1	0
MYF6	4618	broad.mit.edu	37	12	81101660	81101660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81101660C>T	ENST00000228641.3	+	1	384	c.162C>T	c.(160-162)agC>agT	p.S54S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	54					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGCGGGGAGCGACAGCAGCG	0.622000													22	31					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745136	17745136	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17745136G>A	ENST00000380060.3	+	6	3185	c.2847G>A	c.(2845-2847)acG>acA	p.T949T	NHS_ENST00000398097.3_Silent_p.T793T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	949						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCTACGGGTACCACAG	0.438000													41	71					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129864213	129864213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129864213G>A	ENST00000281142.5	-	17	2073	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	524						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTCTCTTTCCGTAACTGTTTA	0.363000													4	105					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689915	74689915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689915A>G	ENST00000233616.4	-	4	1163	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	MOGS_ENST00000452063.2_Missense_Mutation_p.F228S|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	334					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTCAAACACAAACTCTATGGA	0.562000													12	138					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39554052	39554052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39554052C>A	ENST00000287152.7	-	8	1069	c.975G>T	c.(973-975)gaG>gaT	p.E325D	KIF6_ENST00000373215.3_Missense_Mutation_p.E325D|KIF6_ENST00000373213.4_Missense_Mutation_p.E164D|KIF6_ENST00000373216.3_Missense_Mutation_p.E325D|KIF6_ENST00000538893.1_Missense_Mutation_p.E325D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	325					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTCCTTTTCTCCAAGGAGA	0.448000													5	118					0.0215528	0.0221649	1	1	0
CCNL2	81669	broad.mit.edu	37	1	1323366	1323366	+	Silent	SNP	G	G	T	rs148355846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1323366G>T	ENST00000400809.3	-	9	1091	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.A140A	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	362					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGCTTTCTTGGCGCCCTCCA	0.577000													11	90					2.80697e-09	3.39963e-09	1	1	0
KIF1C	10749	broad.mit.edu	37	17	4907888	4907888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4907888G>A	ENST00000320785.5	+	12	1324	c.967G>A	c.(967-969)Gca>Aca	p.A323T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	323					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCATGATTGCAGCCCTGAG	0.577000													32	65					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502000													10	61					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718407	103718407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103718407G>A	ENST00000245312.3	-	1	789	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	65					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGCCCCACGGCCGCTTTATG	0.532000													34	56					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180660724	180660724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180660724G>A	ENST00000315073.5	+	5	1962	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	TRIM41_ENST00000351937.5_Missense_Mutation_p.V418M|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	418	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCCATCGTGAGGAAAAT	0.587000													27	36					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711428	155711428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155711428C>A	ENST00000295101.2	+	3	1586	c.1109C>A	c.(1108-1110)cCt>cAt	p.P370H	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	370					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGTCGTCCCCTTTAATAGCA	0.408000													9	122					3.09899e-07	3.63227e-07	1	1	0
SYNPO2L	79933	broad.mit.edu	37	10	75408082	75408082	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75408082G>T	ENST00000394810.2	-	4	1477	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P443H|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P219H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	443	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCTACAGGCGCCGGCAA	0.672000													8	13					0.00448238	0.00472561	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13679300	13679300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13679300C>T	ENST00000404922.3	+	18	3696	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	FBLN2_ENST00000295760.7_Missense_Mutation_p.R1146W|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1172W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1193W	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1146						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTACCTGCAGCGGGCCGTGCT	0.617000													10	53					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172821917	172821917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172821917C>T	ENST00000264108.4	+	5	404	c.368C>T	c.(367-369)aCg>aTg	p.T123M	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.T38M	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	123					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCACAAACACGAATGATTTC	0.358000													4	40					0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52060587	52060587	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52060587C>T	ENST00000249700.4	+	3	476	c.255C>T	c.(253-255)gaC>gaT	p.D85D	TMOD2_ENST00000435126.2_Silent_p.D85D|TMOD2_ENST00000539962.2_Silent_p.D41D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	85					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACAGAGAGGACTTTGTGCCCT	0.502000													8	20					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390158	107390158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390158C>T	ENST00000429433.2	-	5	2886	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	BEND3_ENST00000369042.1_Missense_Mutation_p.R746H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	746	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGGAAACAGGCGGACGAGGAG	0.632000													21	32					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41073892	41073892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41073892T>C	ENST00000324545.7	+	34	5894	c.5261T>C	c.(5260-5262)tTg>tCg	p.L1754S	USP9X_ENST00000378308.2_Missense_Mutation_p.L1754S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1754					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTGATTCTTTGGAACAGTAT	0.323000													8	79					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961055	17961055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17961055C>T	ENST00000361221.3	+	17	1902	c.1743C>T	c.(1741-1743)caC>caT	p.H581H	ARHGEF10L_ENST00000452522.1_Silent_p.H542H|ARHGEF10L_ENST00000375420.3_Silent_p.H339H|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375415.1_Silent_p.H542H|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000167825.4_Intron	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	581					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCCAACCACAGGTACGTGG	0.617000													31	61					0	0	1	0	0
UGT1A7	0	broad.mit.edu	37	2	234590698	234590698	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234590698T>C	ENST00000373426.3	+	1	115	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCCACTGGTTCACCATGCA	0.562000													5	102					0	0	1	0	0
EVA1B	55194	broad.mit.edu	37	1	36788090	36788090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36788090C>T	ENST00000270824.1	-	3	595	c.304G>A	c.(304-306)Gca>Aca	p.A102T	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		TCCGGCTCTGCGGACAGCTCG	0.721000													5	15					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112714	197112714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197112714G>T	ENST00000367409.4	-	3	924	c.668C>A	c.(667-669)cCt>cAt	p.P223H	ASPM_ENST00000294732.7_Missense_Mutation_p.P223H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	223					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGGCTAATAGGTGATATGGG	0.413000													5	102					8.12818e-05	8.99451e-05	1	1	0
PODN	127435	broad.mit.edu	37	1	53542887	53542887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542887C>A	ENST00000371500.3	+	8	1035	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L251M	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	203					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACAACAAGCTGGCAGACGC	0.627000													5	99					0.184627	0.186383	1	1	0
PLEKHM1P	0	broad.mit.edu	37	17	62825337	62825337	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62825337G>A	ENST00000582986.1	-	0	129					NR_024386.1																						CTCCACTCACGCAGCTGCTCC	0.597000													8	13					0	0	1	0	0
FAM13B	0	broad.mit.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137289855C>A	ENST00000033079.3	-	14	2103	c.1652_splice	c.e14+1	p.R551_splice	FAM13B_ENST00000420893.2_Splice_Site_p.R551_splice|FAM13B_ENST00000425075.2_Splice_Site_p.R455_splice	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	551					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388000													5	41					0.00116845	0.00124821	1	1	0
TCF20	6942	broad.mit.edu	37	22	42609038	42609038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42609038C>A	ENST00000359486.3	-	1	2410	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	TCF20_ENST00000335626.4_Missense_Mutation_p.Q758H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGTAACCCTGAAGCACTT	0.507000													20	30					8.34094e-07	9.69005e-07	1	1	0
MPI	4351	broad.mit.edu	37	15	75190063	75190063	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75190063C>T	ENST00000352410.4	+	8	1331	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.L361L|MPI_ENST00000535694.1_Silent_p.L372L|MPI_ENST00000563786.1_Silent_p.L402L			P34949	MPI_HUMAN	mannose phosphate isomerase	422					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCTGCTGTCTGCTGTAAAG	0.592000													6	27					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001826	145001826	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145001826G>A	ENST00000322810.4	-	27	4088	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	PLEC_ENST00000354589.3_Missense_Mutation_p.R1170W|PLEC_ENST00000345136.3_Missense_Mutation_p.R1170W|PLEC_ENST00000354958.2_Missense_Mutation_p.R1148W|PLEC_ENST00000356346.3_Missense_Mutation_p.R1156W|PLEC_ENST00000357649.2_Missense_Mutation_p.R1174W|PLEC_ENST00000527096.1_Missense_Mutation_p.R1193W|PLEC_ENST00000436759.2_Missense_Mutation_p.R1197W|PLEC_ENST00000398774.2_Missense_Mutation_p.R1138W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1307	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGTCCCGCTCCCCGTGC	0.741000													3	5					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67742591	67742591	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67742591T>G	ENST00000255674.6	-	33	4847	c.4561A>C	c.(4561-4563)Aat>Cat	p.N1521H	RTTN_ENST00000437017.1_Missense_Mutation_p.N1521H|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1521							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACTTACCATTTAAATCATTG	0.239000													18	32					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1235772G>T	ENST00000324642.3	+	4	739	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572000													27	57					5.61819e-17	7.26839e-17	1	1	0
MARVELD2	153562	broad.mit.edu	37	5	68715761	68715761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715761C>A	ENST00000325631.5	+	2	623	c.549C>A	c.(547-549)taC>taA	p.Y183*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.Y183*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	183					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACCTGAGATACTCCTACATGA	0.517000													22	55					3.73194e-20	4.89492e-20	1	1	0
TMC2	117532	broad.mit.edu	37	20	2577918	2577918	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2577918T>C	ENST00000358864.1	+	10	1213	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	400						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATAACAAATATGCATCCAT	0.512000													17	17					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937546	12937546	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12937546G>A	ENST00000218032.6	+	2	474	c.387G>A	c.(385-387)gaG>gaA	p.E129E	TLR8_ENST00000311912.5_Silent_p.E147E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	129					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCTAAGGGAGTTACTGCTTG	0.408000													63	96					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713638	73713638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73713638C>A	ENST00000342056.2	+	2	804	c.406C>A	c.(406-408)Ctt>Att	p.L136I	KCNQ5_ENST00000403813.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355194.4_Splice_Site|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L136I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L136I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L136I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	136					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L136I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTTTTCTCCTTGTCTTTGG	0.378000													6	45					2.0095e-06	2.31757e-06	1	1	0
FHDC1	85462	broad.mit.edu	37	4	153896906	153896906	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153896906C>A	ENST00000511601.1	+	12	2651	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	FHDC1_ENST00000260008.3_Silent_p.S821S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	821					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAAGTCTCCTCCAACCCTA	0.662000													7	87					0.000274275	0.000298791	1	1	0
DPH5	51611	broad.mit.edu	37	1	101458213	101458213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101458213C>A	ENST00000370109.3	-	7	726	c.614G>T	c.(613-615)aGa>aTa	p.R205I	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R205I|DPH5_ENST00000342173.7_Missense_Mutation_p.R205I|DPH5_ENST00000427040.2_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	205					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCCTCGTATTCTTTGATTTTG	0.398000													6	102					5.18039e-06	5.91835e-06	1	1	0
RIMS1	0	broad.mit.edu	37	6	73110297	73110297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73110297G>A	ENST00000264839.7	+	30	4507	c.4507G>A	c.(4507-4509)Gga>Aga	p.G1503R	RIMS1_ENST00000517827.1_Missense_Mutation_p.G788R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1443R|RIMS1_ENST00000414192.2_Missense_Mutation_p.G181R|RIMS1_ENST00000538414.1_Missense_Mutation_p.G460R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1304R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1437R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1253R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1654R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G779R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G974R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.G722R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1333R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1437R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1654					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGGTGATCGGATGGTACAA	0.542000													31	34					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940436	48940436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48940436C>T	ENST00000499247.2	-	2	1376	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	TOB1_ENST00000268957.3_Missense_Mutation_p.G315S	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	315					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATTGAGGCCTCCATAGGCT	0.413000													27	46					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19213861	19213861	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19213861G>T	ENST00000263200.10	-	12	1900	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	CLTCL1_ENST00000353891.5_Silent_p.R610R|CLTCL1_ENST00000427926.1_Silent_p.R610R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	610	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTGGGCCCGGTCGTAATGA	0.502000			T	?	ALCL								20	29					1.22574e-08	1.47244e-08	1	1	0
PCDHGA10	0	broad.mit.edu	37	5	140794055	140794055	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140794055C>T	ENST00000398610.2	+	1	1313	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTATCAACGGAAGCTCAC	0.463000													70	111					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43307949	43307949	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43307949T>C	ENST00000290650.4	-	29	3224	c.3146A>G	c.(3145-3147)aAa>aGa	p.K1049R	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATACATGAGTTTATGAGTTTC	0.373000													9	148					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31018826	31018826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31018826C>T	ENST00000409904.3	+	10	1305	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000326139.2_Silent_p.R413R			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	413					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCCTTCCCGCTCGGCGGCAA	0.602000													5	54					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910065	14910065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14910065G>A	ENST00000248073.2	-	1	958	c.884C>T	c.(883-885)aCg>aTg	p.T295M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTTCATGTCCGTGTTCCTCAG	0.517000													27	31					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607726	8607726	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8607726G>T	ENST00000382480.2	+	5	1109	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CPZ_ENST00000360986.4_Missense_Mutation_p.E240D|CPZ_ENST00000315782.6_Missense_Mutation_p.E229D|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	240	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E240D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587000													5	51					0.014758	0.0152625	1	1	0
PRDX1	5052	broad.mit.edu	37	1	45977087	45977087	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45977087C>T	ENST00000262746.1	-	6	854		c.e6-1		PRDX1_ENST00000372079.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GCTGGGCACACTGCAAGAGAA	0.468000													19	170					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128850978	128850978	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128850978C>T	ENST00000280333.6	+	22	2281	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	724					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTACGTGGACGGTGCTGAGA	0.433000													29	36					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181375	18181375	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18181375T>A	ENST00000321105.5	-	18	2655	c.2441A>T	c.(2440-2442)aAc>aTc	p.N814I	TOP3A_ENST00000540524.1_Missense_Mutation_p.N344I|TOP3A_ENST00000542570.1_Missense_Mutation_p.N719I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	814	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGCCACAGTTGCAGGTCAC	0.612000													29	45					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54398622	54398622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54398622G>T	ENST00000254442.3	+	14	1994	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D595Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	595										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTGCATTGGATCGTTGTGT	0.348000													18	40					6.49762e-13	8.19883e-13	1	1	0
GRK1	6011	broad.mit.edu	37	13	114325904	114325904	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325904G>A	ENST00000335678.6	+	3	1150	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCGGCCTGGAGCACCTGCACC	0.602000													10	15					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1464255	1464255	+	Silent	SNP	G	G	A	rs146307787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1464255G>A	ENST00000331035.4	+	3	460	c.111G>A	c.(109-111)caG>caA	p.Q37Q	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGGCTCAGCAGTTGACCT	0.423000													45	89					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883957	110883957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110883957C>A	ENST00000369784.3	+	1	2830	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	RBM15_ENST00000487146.2_Missense_Mutation_p.L644M|RBM15_ENST00000602849.1_Missense_Mutation_p.L644M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	644	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGCGAAGGCTGCCTGAGGA	0.587000			T	MKL1	acute megakaryocytic leukemia								9	22					0.00448238	0.00472561	1	1	0
WDR93	56964	broad.mit.edu	37	15	90278765	90278765	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90278765T>A	ENST00000268130.7	+	14	1690	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	WDR93_ENST00000444934.2_Missense_Mutation_p.V247D|WDR93_ENST00000560294.1_Missense_Mutation_p.V502D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	530					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGCCCCAGTCCCAGCCTTA	0.443000													6	66					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72297261	72297261	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72297261T>G	ENST00000579490.1	+	7	1247	c.1112T>G	c.(1111-1113)tTg>tGg	p.L371W	DNAI2_ENST00000582036.1_Missense_Mutation_p.L314W|DNAI2_ENST00000446837.2_Missense_Mutation_p.L314W|DNAI2_ENST00000311014.6_Missense_Mutation_p.L314W|DNAI2_ENST00000307504.5_Missense_Mutation_p.L171W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	314					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGGAACAGTTGGAAAATGCC	0.562000									Kartagener syndrome				55	81					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44438312	44438312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44438312C>T	ENST00000291547.5	+	7	903	c.692C>T	c.(691-693)cCt>cTt	p.P231L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P114L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	231							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACATTGTCGCCTGGGACAATT	0.542000													3	41					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156706423	156706423	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156706423G>T	ENST00000368216.4	+	8	1936		c.e8-1		RRNAD1_ENST00000476229.1_Splice_Site|RRNAD1_ENST00000481920.1_Intron|RRNAD1_ENST00000368218.4_Splice_Site	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1							integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTCTCCCAGGTTTCCATGC	0.547000													13	85					9.31168e-06	1.06029e-05	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102041871	102041871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102041871G>A	ENST00000549145.1	+	13	1203	c.1103G>A	c.(1102-1104)tGt>tAt	p.C368Y	MYBPC1_ENST00000551300.1_Missense_Mutation_p.C256Y|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.C336Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.C341Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000392934.3_Missense_Mutation_p.C342Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.C329Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.C343Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.C355Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	355	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGCTTATTGTGGGGAGAGA	0.378000													11	77					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17934328	17934328	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17934328G>A	ENST00000361221.3	+	7	624	c.465G>A	c.(463-465)gcG>gcA	p.A155A	ARHGEF10L_ENST00000452522.1_Silent_p.A155A|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.A155A|ARHGEF10L_ENST00000434513.1_Silent_p.A155A	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	155					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGAGGATGCGCACCGGGCTG	0.687000													6	10					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184772785	184772785	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184772785A>G	ENST00000367511.3	-	12	1681	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	496					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCCTCTTGAAATATCTTCT	0.398000													5	109					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385262	41385262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41385262C>T	ENST00000400454.1	-	33	6215	c.5738G>A	c.(5737-5739)cGa>cAa	p.R1913Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507000													19	33					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381373	183381373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183381373G>T	ENST00000454652.1	+	5	1434	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	KLHL24_ENST00000476808.1_Nonsense_Mutation_p.E350*|KLHL24_ENST00000242810.6_Nonsense_Mutation_p.E350*			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	350						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAAGCTTCCAGAATTTACCAA	0.393000													12	83					1.5842e-08	1.90059e-08	1	1	0
C12orf52	84934	broad.mit.edu	37	12	113629341	113629341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113629341G>A	ENST00000548278.1	+	4	1221	c.529G>A	c.(529-531)Gcg>Acg	p.A177T	C12orf52_ENST00000552495.1_Missense_Mutation_p.A201T|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.A177T	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	177	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCGGGGCCAGCGGCAGACTC	0.647000													4	28					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469891	49469891	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49469891A>G	ENST00000331825.6	+	4	634	c.427A>G	c.(427-429)Aag>Gag	p.K143E		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	143	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAAGCTTATCAAGAAGATGGG	0.532000													10	190					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149963702	149963702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963702C>A	ENST00000370377.3	-	6	524	c.407G>T	c.(406-408)aGg>aTg	p.R136M	CD99L2_ENST00000355149.3_Missense_Mutation_p.R64M|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.R87M	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	136					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGGTTTCCTGCGGCCATC	0.478000													10	190					3.86212e-05	4.30401e-05	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31334251	31334251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31334251C>T	ENST00000542188.1	-	16	2354	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.A664T|TRPM1_ENST00000397795.2_Missense_Mutation_p.A642T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	642					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCACCAGGGCCTTGGCCATG	0.562000													18	29					0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6833966	6833966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6833966C>T	ENST00000543155.1	+	2	626	c.144C>T	c.(142-144)gaC>gaT	p.D48D	COPS7A_ENST00000534947.1_Silent_p.D48D|COPS7A_ENST00000538410.1_Silent_p.D48D|COPS7A_ENST00000534877.1_Silent_p.D48D|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000539735.1_Silent_p.D48D|COPS7A_ENST00000229251.3_Silent_p.D48D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	48					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AACTGCTGGACATGCCCAATG	0.557000													14	23					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37559765	37559765	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37559765G>T	ENST00000239891.3	-	6	626	c.561_splice	c.e6+1	p.P187_splice	ALG5_ENST00000443765.1_Splice_Site_p.P157_splice|ALG5_ENST00000413537.2_Splice_Site_p.P187_splice	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TATACTCACAGGCCAAGGCTG	0.378000													4	48					0.00024832	0.0002712	1	1	0
SUMO3	6612	broad.mit.edu	37	21	46233927	46233927	+	Silent	SNP	C	C	T	rs11545092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46233927C>T	ENST00000332859.6	-	2	274	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SUMO3_ENST00000397898.3_Silent_p.P38P|SUMO3_ENST00000411651.2_Silent_p.P38P|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.P38P	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	38	Ubiquitin-like.		P -> S (in dbSNP:rs1051311).		protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCTTGCTCAGCGGCGTGTGCC	0.622000													8	129					0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17394698	17394698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17394698C>T	ENST00000268711.3	+	2	386	c.330C>T	c.(328-330)agC>agT	p.S110S		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	110					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCACCTGAGCCCCGAACAGC	0.577000													33	53					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66381119	66381119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66381119A>G	ENST00000299608.2	-	2	381	c.65T>C	c.(64-66)gTc>gCc	p.V22A	TMX3_ENST00000562706.1_Missense_Mutation_p.V22A|TMX3_ENST00000443099.2_Missense_Mutation_p.V22A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	22					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTACAGACGACCATATCAAG	0.284000													7	9					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533899	145533899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145533899G>T	ENST00000369304.3	+	13	1720	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q384H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q372H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	515					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACCCCAGAACAAGGAAA	0.532000													16	34					3.45872e-05	3.88335e-05	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43002131	43002131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43002131G>T	ENST00000458501.2	+	2	243	c.243G>T	c.(241-243)caG>caT	p.Q81H	HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q53H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	81					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGGATCAGGCTTTGCTAC	0.378000													13	20					9.05144e-12	1.1316e-11	1	1	0
MUM1L1	139221	broad.mit.edu	37	X	105450704	105450704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105450704G>A	ENST00000337685.2	+	5	2064	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A427T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A427T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	427	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTGTTGAGGCAAACATGAA	0.338000													13	16					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108527	39108527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39108527G>A	ENST00000591517.1	-	1	37	c.9C>T	c.(7-9)gtC>gtT	p.V3V	MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000586296.1_Silent_p.V3V|MAP4K1_ENST00000396857.2_Silent_p.V3V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	3					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGTCCACGACGTCCATCC	0.642000													26	38					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110920897	110920897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110920897G>A	ENST00000265171.5	+	21	3513	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	EGF_ENST00000503392.1_Missense_Mutation_p.R982H|EGF_ENST00000509793.1_Missense_Mutation_p.R981H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1023					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGAACTGCGCCACGCTGGC	0.597000													8	109					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65428014	65428014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:65428014C>T	ENST00000519389.1	+	15	2830	c.2651C>T	c.(2650-2652)gCc>gTc	p.A884V	HEPH_ENST00000419594.1_Missense_Mutation_p.A641V|HEPH_ENST00000343002.2_Missense_Mutation_p.A830V|HEPH_ENST00000441993.2_Missense_Mutation_p.A833V|HEPH_ENST00000336279.5_Missense_Mutation_p.A563V|HEPH_ENST00000374727.3_Missense_Mutation_p.A833V			Q9BQS7	HEPH_HUMAN	hephaestin	830	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATAATGCCAGCCGCCCC	0.413000													8	16					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36832369	36832369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36832369C>T	ENST00000270001.7	-	5	474	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCAATCATTCCTAAAAATGGA	0.343000													46	115					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13978856	13978856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:13978856A>G	ENST00000343495.5	-	6	935	c.197T>C	c.(196-198)cTg>cCg	p.L66P	ETV1_ENST00000399357.3_Missense_Mutation_p.L44P|ETV1_ENST00000405192.2_Missense_Mutation_p.L84P|ETV1_ENST00000420159.2_Missense_Mutation_p.L26P|ETV1_ENST00000430479.1_Missense_Mutation_p.L84P|ETV1_ENST00000405358.4_Missense_Mutation_p.L98P|ETV1_ENST00000242066.5_Missense_Mutation_p.L66P|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.L44P|ETV1_ENST00000405218.2_Missense_Mutation_p.L84P|ETV1_ENST00000403685.1_Missense_Mutation_p.L66P			P50549	ETV1_HUMAN	ets variant 1	84					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCAGTGGCAGGCCATGAAA	0.373000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								5	89					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29599062	29599062	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29599062G>T	ENST00000375500.3	+	4	517	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TGACCTCACAGATGCAATTAT	0.428000													26	49					1.08312e-15	1.39118e-15	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238290034	238290034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238290034C>A	ENST00000295550.4	-	5	1873	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	COL6A3_ENST00000347401.3_Missense_Mutation_p.R273M|COL6A3_ENST00000353578.4_Missense_Mutation_p.R268M|COL6A3_ENST00000346358.4_Missense_Mutation_p.R474M|COL6A3_ENST00000392004.3_Missense_Mutation_p.R268M|COL6A3_ENST00000392003.2_Missense_Mutation_p.R67M|COL6A3_ENST00000409809.1_Missense_Mutation_p.R268M|COL6A3_ENST00000472056.1_Missense_Mutation_p.R67M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	474	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTCCAGCCTCTGGATGAC	0.483000													5	59					0.0215528	0.0221649	1	1	0
GRM5	2915	broad.mit.edu	37	11	88242657	88242657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242657G>A	ENST00000418177.2	-	10	3109	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	GRM5_ENST00000305447.4_Silent_p.S914S|GRM5_ENST00000305432.5_Silent_p.S882S|GRM5_ENST00000455756.2_Silent_p.S882S|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	914					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCACGTGACGGATTTTCCAT	0.587000													13	25					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655064	99655064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99655064C>A	ENST00000370597.3	-	11	1779	c.1424G>T	c.(1423-1425)aGg>aTg	p.R475M	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R475M|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R475M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	475						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGATGATCCTCAGGTGGGC	0.622000													18	20					6.49762e-13	8.19883e-13	1	1	0
DNM2	1785	broad.mit.edu	37	19	10939813	10939813	+	Silent	SNP	C	C	T	rs117598326	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10939813C>T	ENST00000314646.5	+	19	2324	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	DNM2_ENST00000408974.4_Silent_p.D716D|DNM2_ENST00000359692.6_Silent_p.D716D|DNM2_ENST00000389253.4_Silent_p.D720D|DNM2_ENST00000585892.1_Silent_p.D720D|DNM2_ENST00000355667.6_Silent_p.D720D			P50570	DYN2_HUMAN	dynamin 2	720	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCGGCGGGACGACATGCTGC	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL								9	8					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863578	72863578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863578G>T	ENST00000261180.4	+	4	1317	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373000													33	68					3.62531e-18	4.72007e-18	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49896835	49896835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49896835G>A	ENST00000463537.1	-	11	1404	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	CAMKV_ENST00000466940.1_Silent_p.G400G|CAMKV_ENST00000477224.1_Silent_p.G474G|CAMKV_ENST00000488336.1_Silent_p.G443G|CAMKV_ENST00000296471.7_Silent_p.G446G|CAMKV_ENST00000467248.1_Silent_p.G399G	NM_024046.3	NP_076951.2	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	0	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGTGGCGCCCTCTGGGG	0.652000													22	47					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655297	19655297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19655297G>A	ENST00000586018.1	+	8	2063	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	CILP2_ENST00000291495.4_Missense_Mutation_p.R648H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	648						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCTCCGTGCGCCCGGC	0.721000													3	28					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68107748	68107748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68107748C>T	ENST00000262210.5	+	29	3617	c.3586C>T	c.(3586-3588)Cag>Tag	p.Q1196*	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q851*|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1231						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CATGGCAGAGCAGCTGAACCA	0.522000													39	62					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15452855	15452855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15452855G>T	ENST00000443029.1	-	6	1003	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	METTL6_ENST00000383790.3_Missense_Mutation_p.L255M|METTL6_ENST00000450816.2_Missense_Mutation_p.L210M			Q8TCB7	METL6_HUMAN	methyltransferase like 6	255							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GGCACACACAGGCCTTCTTTT	0.453000													6	76					2.0095e-06	2.31757e-06	1	1	0
FSD1	79187	broad.mit.edu	37	19	4310514	4310514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4310514G>T	ENST00000221856.6	+	6	558	c.411G>T	c.(409-411)aaG>aaT	p.K137N	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.K137N	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	137	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGCGAAGGTCAGTGACA	0.607000													4	71					0.00024832	0.0002712	1	1	0
DNTTIP1	116092	broad.mit.edu	37	20	44430695	44430695	+	Splice_Site	SNP	G	G	A	rs147664923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44430695G>A	ENST00000372622.3	+	7	624	c.557_splice	c.e7+1	p.V186_splice		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	186						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCCGGCATGGTGTGAGTAGG	0.577000													20	37					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119678008	119678008	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119678008G>A	ENST00000371322.5	-	7	1195	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	CUL4B_ENST00000404115.3_Silent_p.L396L|CUL4B_ENST00000336592.6_Silent_p.L383L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	396					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGCATAGAGCCGGTTAG	0.333000													20	40					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3643130	3643130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3643130C>T	ENST00000263087.4	-	20	2589	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	831					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGTAATTCTGCGACACAAAAC	0.552000													18	32					0	0	1	0	0
TRAV26-1	0	broad.mit.edu	37	14	22592047	22592047	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22592047C>A	ENST00000390455.3	+	0	341																											ACTCTACCATCAGTGGAAATG	0.453000													37	62					1.90571e-15	2.44502e-15	1	1	0
DCLRE1B	64858	broad.mit.edu	37	1	114448282	114448282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114448282G>A	ENST00000369563.3	+	1	520	c.74G>A	c.(73-75)cGt>cAt	p.R25H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	25					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACCGCACGTCTCTTCTTC	0.627000								Other identified genes with known or suspected DNA repair function					25	54					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77793211	77793211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77793211C>T	ENST00000216465.5	+	3	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M	GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000556627.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.T34M|GSTZ1_ENST00000349555.3_Missense_Mutation_p.T33M|GSTZ1_ENST00000554279.1_Missense_Mutation_p.T33M	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	33	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACTACGAGACGGTGCCCATC	0.547000													4	11					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25463599	25463599	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463599C>T	ENST00000424208.1	+	0	2882				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GGTGAGACTTCTGTTGGGCTT	0.597000													7	6					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137548861	137548861	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137548861G>A	ENST00000394886.2	-	1	171	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CDC23_ENST00000394884.3_Silent_p.G47G|CDC23_ENST00000505120.1_Silent_p.G47G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGTAGTAGGCCCCGCTCCC	0.552000													36	73					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52008258	52008258	+	Missense_Mutation	SNP	A	A	G	rs114108618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52008258A>G	ENST00000395526.3	-	1	112	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ASAH2_ENST00000447815.1_Missense_Mutation_p.I38T|ASAH2_ENST00000329428.6_Missense_Mutation_p.I19T	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	38					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTGGTTTTCAATGGTCCCACT	0.433000													4	39					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17474837	17474837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17474837G>T	ENST00000377873.3	-	8	1919	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S502Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	627	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTCTCGATAGATTCCACCAC	0.483000													52	90					2.69774e-35	3.62969e-35	1	1	0
MLK4	0	broad.mit.edu	37	1	233518142	233518142	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233518142A>G	ENST00000366624.3	+	10	3057	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	MLK4_ENST00000366622.1_Silent_p.S378S	NM_032435.2	NP_115811.2																					GGGAGGTCTCACCCAAGAAGC	0.592000													11	49					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803078	12803078	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12803078A>G	ENST00000378847.3	+	4	768	c.431A>G	c.(430-432)gAc>gGc	p.D144G	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D144G	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	144	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCCACAGAGACCTCAAGGTG	0.587000													5	12					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16192856	16192856	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16192856G>A	ENST00000300933.4	+	2	526	c.266_splice	c.e2+1	p.R89_splice	TPM4_ENST00000538887.1_Splice_Site_p.R125_splice|TPM4_ENST00000344824.6_Splice_Site_p.R125_splice	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	89					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGAGTGAGAGGTAAGGACGC	0.537000			T	ALK	ALCL								13	6					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30414481	30414481	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30414481T>C	ENST00000375994.2	+	6	1319	c.1046T>C	c.(1045-1047)aTc>aCc	p.I349T	MYLK2_ENST00000375985.4_Missense_Mutation_p.I349T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	349	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGCAGCCATCGAGACTCCG	0.577000													5	42					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099582	184099582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184099582G>A	ENST00000204604.1	+	5	836	c.590G>A	c.(589-591)cGc>cAc	p.R197H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R197H|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.R197H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	197	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTAGCCTCCGCTTCTCTATC	0.672000													9	9					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201800547	201800547	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201800547C>T	ENST00000234296.2	-	9	832	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	195					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGTTCCTGTGCAACCCCTTCA	0.428000													24	41					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59457913	59457913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59457913C>T	ENST00000589222.1	+	24	2708	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Silent_p.H895H|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Silent_p.H880H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGAGAGACACGTGGCAGTGA	0.463000													3	17					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520544	33520544	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520544G>A	ENST00000297307.5	-	1	868	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	261						integral to membrane											CCAAGGCGAGGATCCCCACTG	0.632000													37	49					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632596	48632596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48632596G>A	ENST00000006658.6	+	16	2281	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	SPATA20_ENST00000393244.3_Missense_Mutation_p.V661M|SPATA20_ENST00000356488.4_Missense_Mutation_p.V705M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	705					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTCAGATCGTGATCTGTGG	0.592000													13	12					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121089	114121089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114121089C>T	ENST00000335953.4	+	7	2214	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCGCTCCCGGGACTACTC	0.617000													10	75					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116395560	116395560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116395560C>T	ENST00000397752.3	+	6	2053	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	MET_ENST00000436117.2_Missense_Mutation_p.T618M|MET_ENST00000318493.6_Missense_Mutation_p.T618M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	618	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGTGAGAGCACGATGAATACG	0.363000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				48	48					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650606	39650606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39650606C>T	ENST00000216832.4	+	9	1760	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	565	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGTAGAGGTCGAGCTAGAAA	0.453000													24	33					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699899	149699899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149699899T>G	ENST00000367456.1	+	4	1425	c.848T>G	c.(847-849)gTc>gGc	p.V283G	TAB2_ENST00000286332.5_Missense_Mutation_p.V283G|TAB2_ENST00000392282.1_Missense_Mutation_p.V283G|TAB2_ENST00000538427.1_Missense_Mutation_p.V283G|TAB2_ENST00000536230.1_Missense_Mutation_p.V251G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	283					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCTCTCATGTCTACATGCCA	0.468000													10	77					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216554	46216554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46216554A>G	ENST00000371374.1	-	3	496	c.305T>C	c.(304-306)aTa>aCa	p.I102T	RCAN2_ENST00000306764.7_Missense_Mutation_p.I102T|RCAN2_ENST00000330430.6_Missense_Mutation_p.I56T|RCAN2_ENST00000405162.1_Missense_Mutation_p.I102T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	56					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGAAGTTTATACGGACACG	0.408000													26	20					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52924096	52924096	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52924096C>A	ENST00000371544.3	-	20	3609	c.3347G>T	c.(3346-3348)aGg>aTg	p.R1116M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1116M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1116					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAACTTCCCCTGGAAGCATC	0.393000													5	55					1.23904e-05	1.39987e-05	1	1	0
NR0B1	190	broad.mit.edu	37	X	30327013	30327013	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30327013C>A	ENST00000378970.4	-	1	702	c.468G>T	c.(466-468)acG>acT	p.T156T	NR0B1_ENST00000453287.1_Silent_p.T156T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	156	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGCCACGTGCGTTTGCTTTG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					1.08611e-07	1.2824e-07	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32449721	32449721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32449721G>A	ENST00000404025.2	-	10	3384	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	NLRC4_ENST00000342905.6_Nonsense_Mutation_p.Q301*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q966*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	966					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACACTAATTGCTTAAGATTC	0.383000													10	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686241	100686241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100686241C>A	ENST00000306151.4	+	3	11608	c.11544C>A	c.(11542-11544)acC>acA	p.T3848T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3848						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTGCTCACCTCTACCAAAG	0.458000													48	38					8.00217e-19	1.04538e-18	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71692149	71692149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71692149G>A	ENST00000393524.2	-	13	2798	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Silent_p.L791L|PHLPP2_ENST00000360429.3_Silent_p.L756L|PHLPP2_ENST00000356272.3_Silent_p.L756L|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000568954.1_Silent_p.L756L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	756						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATATGTCCAGTGTCTTGTGT	0.423000													4	93					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80053284	80053284	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80053284G>A	ENST00000306749.2	-	3	410	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	64	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACTCCGAAGAAGGAGGCAT	0.617000													13	27					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166060	15166060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15166060C>A	ENST00000427043.3	+	5	803	c.495C>A	c.(493-495)gcC>gcA	p.A165A	CASP14_ENST00000221740.1_Silent_p.A165A	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	165					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACACAGATGCCTTGCACGTTT	0.532000													4	47					0.00024832	0.0002712	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48511062	48511062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48511062T>C	ENST00000446524.1	+	1	794	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AACCTGCAGTTCCCACATGAC	0.413000													100	118					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478906	69478906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69478906C>T	ENST00000374519.2	-	1	748	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R190P(1)|p.R190S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTC	0.572000													16	27					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129601266	129601266	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129601266C>T	ENST00000421865.2	+	18	2560	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	837	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCCCTGTCGGGTACACAG	0.453000													13	30					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433186	40433186	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433186C>T	ENST00000221347.6	-	2	1090	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTCTGTGCCACTACCAGGG	0.607000													6	17					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226552832	226552832	+	Silent	SNP	G	G	A	rs148631906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226552832G>A	ENST00000366794.5	-	19	2672	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	843	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGCATTCGCCTTCACGCT	0.488000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					30	34					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72631303	72631303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72631303C>A	ENST00000273951.8	-	4	662	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	GC_ENST00000504199.1_Missense_Mutation_p.G126C|GC_ENST00000503472.1_Splice_Site|GC_ENST00000513476.1_Missense_Mutation_p.G107C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	107	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCAGCAGTGCCTGGGTGAACG	0.498000													11	70					1.08611e-07	1.2824e-07	1	1	0
LARP1	23367	broad.mit.edu	37	5	154172182	154172182	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154172182C>T	ENST00000336314.4	+	4	358	c.333_splice	c.e4-1	p.P112_splice		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	189							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTGCTATAGCCACAGTCCCA	0.522000													38	79					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16593275	16593275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16593275G>A	ENST00000269881.3	-	7	966	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	302	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CAAAGCTCCAGGCCAATGGCA	0.398000													24	29					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962280	10962280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962280G>A	ENST00000240691.2	-	1	487	c.395C>T	c.(394-396)gCg>gTg	p.A132V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAATCGCAAGCATGAC	0.358000													17	33					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776248	9776248	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776248C>A	ENST00000383829.2	+	2	828	c.424C>A	c.(424-426)Cca>Aca	p.P142T	BRPF1_ENST00000433861.2_Missense_Mutation_p.P142T|BRPF1_ENST00000424362.1_Missense_Mutation_p.P142T|BRPF1_ENST00000457855.1_Missense_Mutation_p.P142T|BRPF1_ENST00000302054.3_Missense_Mutation_p.P142T	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	142	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACTGAGACACCAGCTGCTAC	0.542000													7	42					8.12818e-05	8.99451e-05	1	1	0
HYI	81888	broad.mit.edu	37	1	43917949	43917949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43917949C>T	ENST00000583037.1	-	3	548	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	HYI_ENST00000372432.1_Missense_Mutation_p.R118Q|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372425.4_Missense_Mutation_p.R118Q|HYI_ENST00000372426.1_Missense_Mutation_p.R70Q|HYI_ENST00000372434.1_Missense_Mutation_p.R143Q|HYI_ENST00000486909.1_Missense_Mutation_p.R118Q	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	118							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACTGCTATTCGATCAGCTCC	0.572000													9	17					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31641315	31641315	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31641315A>G	ENST00000399332.1	-	7	1658	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N	HECTD1_ENST00000553700.1_Silent_p.N390N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCCATAAAATTTACTTCAA	0.299000													12	25					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490585	141490585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141490585G>A	ENST00000247883.4	+	1	569	c.424G>A	c.(424-426)Gtc>Atc	p.V142I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	142					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTTACTTACAGTCCAAATTGG	0.468000													30	25					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393414	139393414	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393414G>A	ENST00000277541.6	-	33	6192	c.6117C>T	c.(6115-6117)aaC>aaT	p.N2039N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2039					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATCCACATTGTTCACGGCGG	0.617000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	107					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30432936	30432936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30432936C>A	ENST00000286788.4	-	14	1701	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	CCT8_ENST00000540844.1_Missense_Mutation_p.D426Y|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.D480Y	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	499					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTAAGTATCTAGAATACCA	0.378000													48	71					5.34276e-22	7.04553e-22	1	1	0
STRN4	29888	broad.mit.edu	37	19	47228890	47228890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228890C>A	ENST00000391910.3	-	10	1735	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.D303Y|STRN4_ENST00000263280.6_Missense_Mutation_p.D422Y			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	422						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTAAAAGCATCTTTGCTGTCA	0.602000													10	28					0.000978159	0.00105116	1	1	0
CDK7	1022	broad.mit.edu	37	5	68550442	68550442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68550442C>T	ENST00000256443.3	+	4	277	c.174C>T	c.(172-174)acC>acT	p.T58T	CDK7_ENST00000514676.1_Silent_p.T58T|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	58	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TAAATAGAACCGCCTTAAGAG	0.308000								Nucleotide excision repair (NER)					13	48					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100492743	100492743	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100492743A>T	ENST00000395209.3	+	5	944	c.417A>T	c.(415-417)caA>caT	p.Q139H	DRP2_ENST00000541709.1_Missense_Mutation_p.Q61H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q139H|DRP2_ENST00000538510.1_Missense_Mutation_p.Q139H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	139					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGTGCAACAGGAGAAGG	0.542000													30	86					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154088874	154088874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154088874G>A	ENST00000360256.4	-	25	6933	c.6733C>T	c.(6733-6735)Cca>Tca	p.P2245S	F8_ENST00000330287.6_Missense_Mutation_p.P110S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2245	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTCTTTTGGATTATTCACC	0.443000													38	56					0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100620647	100620647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100620647G>A	ENST00000370138.1	-	8	970	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	LRRC39_ENST00000370137.1_Nonsense_Mutation_p.Q258*|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.Q258*	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGAATATCTTGCAGTTTATTG	0.368000													9	122					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959353	70959353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70959353C>T	ENST00000322954.6	-	16	3855	c.3670G>A	c.(3670-3672)Gtt>Att	p.V1224I	UACA_ENST00000539319.1_Missense_Mutation_p.V1115I|UACA_ENST00000379983.2_Missense_Mutation_p.V1211I|UACA_ENST00000560441.1_Missense_Mutation_p.V1209I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1224						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAAGTCAACTACCTCTCTA	0.338000													23	71					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34092484	34092484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34092484C>T	ENST00000257209.4	+	5	611	c.489C>T	c.(487-489)aaC>aaT	p.N163N	FHOD3_ENST00000359247.4_Silent_p.N163N|FHOD3_ENST00000590592.1_Silent_p.N163N|FHOD3_ENST00000445677.1_Silent_p.N163N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	163	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGATCAGAACTATCAGAACT	0.493000													8	21					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401308	114401308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114401308G>A	ENST00000536312.1	-	6	1314	c.422C>T	c.(421-423)gCc>gTc	p.A141V	NXPE1_ENST00000424269.1_Missense_Mutation_p.A141V|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		GGACATCCTGGCCCTCAGGAA	0.567000													25	30					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940405	22940405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22940405G>T	ENST00000397104.3	-	5	2032	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A769D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTTAAAAGCTTTGCCACA	0.353000													10	17					5.50884e-06	6.28354e-06	1	1	0
GABRP	2568	broad.mit.edu	37	5	170239075	170239075	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170239075A>C	ENST00000518525.1	+	11	1600	c.1136A>C	c.(1135-1137)gAc>gCc	p.D379A	GABRP_ENST00000265294.4_Missense_Mutation_p.D379A|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	379						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAACGTTGACTACAGTGAC	0.403000													33	65					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89871701	89871701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89871701C>T	ENST00000268124.5	-	6	1569	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	POLG_ENST00000442287.2_Silent_p.P412P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	412					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAAGAAGAGCGGTAGCTGCT	0.602000								DNA polymerases (catalytic subunits)					9	17					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107349	46107349	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107349C>A	ENST00000321037.4	+	2	259	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	10						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTTTGTTTTCTGGACTTATA	0.343000													5	86					0.000602214	0.000649039	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26465472	26465472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26465472C>A	ENST00000429381.1	+	5	984	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	BTN2A1_ENST00000469185.1_Missense_Mutation_p.L258M|BTN2A1_ENST00000312541.5_Missense_Mutation_p.L258M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.L197M			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428000													43	88					1.7489e-18	2.28119e-18	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12368699	12368699	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12368699G>A	ENST00000358136.3	+	27	6780		c.e27+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTGGACAAGTGAGTGtttt	0.488000													5	49					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080929	1080929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1080929G>A	ENST00000313093.2	+	17	2287	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	HMHA1_ENST00000543365.1_Missense_Mutation_p.V569M|HMHA1_ENST00000536472.1_Missense_Mutation_p.V554M|HMHA1_ENST00000590577.1_Missense_Mutation_p.V321M|HMHA1_ENST00000586866.1_Missense_Mutation_p.V690M|HMHA1_ENST00000539243.2_Missense_Mutation_p.V702M|HMHA1_ENST00000590214.1_Missense_Mutation_p.V713M	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGTGGCCGTGCCCAGTGG	0.706000													3	10					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83667135	83667135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83667135G>T	ENST00000369747.3	-	9	1167	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	349						cytoplasm	ligase activity										GTTAGCGGGTGGACGCTGATG	0.428000													6	45					8.12818e-05	8.99451e-05	1	1	0
ACAN	176	broad.mit.edu	37	15	89402488	89402488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89402488G>T	ENST00000439576.2	+	12	7046	c.6672G>T	c.(6670-6672)caG>caT	p.Q2224H	ACAN_ENST00000352105.7_Missense_Mutation_p.Q2224H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q2224H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2224H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2224					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACCCAGCAGACCCAGC	0.567000													4	25					0.014758	0.0152625	1	1	0
PLEKHA8P1	0	broad.mit.edu	37	12	45567556	45567556	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45567556G>A	ENST00000256692.5	-	0	1129					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGTGTTCATGGTACTAAAGAA	0.433000													61	112					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70344032	70344032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70344032C>T	ENST00000333646.6	+	13	1967	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374102.1_Missense_Mutation_p.R590W|MED12_ENST00000374080.3_Missense_Mutation_p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	590					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	48					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44121425	44121425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44121425C>A	ENST00000372396.3	+	3	436	c.302C>A	c.(301-303)gCc>gAc	p.A101D	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	101					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGCAAGATAGCCAATAGCGAT	0.517000													9	13					1.12685e-05	1.27857e-05	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205238741	205238741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205238741C>A	ENST00000358024.3	+	3	1800	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TMCC2_ENST00000329800.7_Missense_Mutation_p.P231T|TMCC2_ENST00000330675.7_Missense_Mutation_p.P246T|TMCC2_ENST00000545499.1_Missense_Mutation_p.P393T|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	471						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCAGCCCCAAGTATGG	0.692000													5	63					0.0215528	0.0221649	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67579727	67579727	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67579727C>T	ENST00000540839.3	+	20	3628	c.3408C>T	c.(3406-3408)ctC>ctT	p.L1136L	FAM65A_ENST00000042381.4_Silent_p.L1117L|FAM65A_ENST00000422602.2_Silent_p.L1137L|FAM65A_ENST00000428437.2_Silent_p.L1131L|FAM65A_ENST00000379312.3_Silent_p.L1121L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1121						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCCAGCTCCGGAGCCTGT	0.672000													22	16					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570622	37570622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37570622C>T	ENST00000217429.4	+	2	635	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	168					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCATGGACGTGTTCACAG	0.488000													5	96					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17896109	17896109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17896109C>T	ENST00000313838.8	+	7	854	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LRRC48_ENST00000584166.1_Missense_Mutation_p.R159W|LRRC48_ENST00000399187.1_Missense_Mutation_p.R159W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R159W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R159W	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	159			R -> Q (in dbSNP:rs8072048).			cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAAGTGCCTGCGGACGCTCAG	0.542000													6	18					0	0	1	0	0
NT5C	30833	broad.mit.edu	37	17	73126698	73126698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73126698G>T	ENST00000245552.2	-	5	578	c.491C>A	c.(490-492)aCc>aAc	p.T164N	NT5C_ENST00000582160.1_Missense_Mutation_p.T78N|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.H162Q	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	164					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCAGCAGGTGAACAAGAT	0.577000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					1.01871e-10	1.25892e-10	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419259	105419259	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105419259G>A	ENST00000333244.5	-	7	2648	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	843						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGATGGCA	0.617000													100	222					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196288613	196288613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196288613C>T	ENST00000294725.8	-	20	2408		c.e20+1		KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000367433.5_Intron|KCNT2_ENST00000498426.1_Intron	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTCACCTACTTGTCAATAG	0.418000													11	39					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871439	8871439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8871439G>A	ENST00000256707.3	-	30	4908	c.4727C>T	c.(4726-4728)gCg>gTg	p.A1576V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1477V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1557V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1557V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1576					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.A1576V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGAGCGCATCCGATAA	0.473000													4	91					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960708	47960708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47960708C>T	ENST00000236877.6	-	3	1214	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.E29E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	273					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGGGGTCGCCCTCGGCGCCTA	0.701000													6	3					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338000													23	36					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44774067	44774067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44774067C>T	ENST00000372257.2	-	6	854	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ERI3_ENST00000537474.1_Missense_Mutation_p.D48N|ERI3_ENST00000372259.5_Missense_Mutation_p.D110N|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	225	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCATTCATCGACCCTCTGA	0.423000													97	136					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918728	50918728	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50918728C>T	ENST00000440232.2	+	21	2651	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	POLD1_ENST00000599857.1_Silent_p.D866D|POLD1_ENST00000595904.1_Silent_p.D892D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	866					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCACAGGACGTCATCTCGG	0.662000								DNA polymerases (catalytic subunits)					13	22					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131348449	131348449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131348449A>G	ENST00000342983.2	-	3	1045	c.299T>C	c.(298-300)aTt>aCt	p.I100T	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.I100T	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	100					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CACTCTGACAATTTGATCTCT	0.348000													4	40					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841754	129841754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129841754G>A	ENST00000397622.2	-	5	631	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TMEM209_ENST00000462753.1_Missense_Mutation_p.S169F|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.S170F|TMEM209_ENST00000336804.8_Missense_Mutation_p.S169F	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	170	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCCACCTGAGGACAGACCTTG	0.493000													11	38					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468959	35468959	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468959G>A	ENST00000381151.3	+	2	1974	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	488						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGATACTGGCCTTTGCCTA	0.488000													33	59					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170998	90170998	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90170998C>T	ENST00000333209.3	-	2	782	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	88										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGTGCTTTCTGCACTTCAT	0.582000													5	84					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169977800	169977800	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169977800C>A	ENST00000295797.4	+	3	572	c.267C>A	c.(265-267)gcC>gcA	p.A89A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	89	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAGAAGAAGCCTTTAGACTTT	0.353000													8	65					3.09899e-07	3.63227e-07	1	1	0
USP9X	8239	broad.mit.edu	37	X	41048650	41048650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048650C>A	ENST00000324545.7	+	26	4532	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	USP9X_ENST00000378308.2_Missense_Mutation_p.P1300Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTTGATTCCAACAGCCTTA	0.393000													9	78					0.000274275	0.000298791	1	1	0
GBE1	2632	broad.mit.edu	37	3	81584433	81584433	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:81584433A>G	ENST00000429644.2	-	14	2490	c.1847T>C	c.(1846-1848)tTt>tCt	p.F616S	GBE1_ENST00000489715.1_Missense_Mutation_p.F575S	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	616					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCTCTTTCAAAAGCAATGAT	0.388000									Glycogen Storage Disease, type IV				4	44					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173380103	173380103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173380103C>T	ENST00000265085.5	+	9	3244	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	CPEB4_ENST00000520867.1_Missense_Mutation_p.A572V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A580V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A572V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.A207V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A190V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	597	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGGAGCTTGCGATGATAATG	0.433000													20	141					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2774794	2774794	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2774794G>A	ENST00000399655.1	+	36	4711	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L	CACNA1C_ENST00000399591.1_Silent_p.L1471L|CACNA1C_ENST00000399606.1_Silent_p.L1502L|CACNA1C_ENST00000344100.3_Silent_p.L1504L|CACNA1C_ENST00000399637.1_Silent_p.L1482L|CACNA1C_ENST00000406454.3_Silent_p.L1482L|CACNA1C_ENST00000399629.1_Silent_p.L1499L|CACNA1C_ENST00000399621.1_Silent_p.L1482L|CACNA1C_ENST00000347598.4_Silent_p.L1530L|CACNA1C_ENST00000399603.1_Silent_p.L1482L|CACNA1C_ENST00000399634.1_Silent_p.L1482L|CACNA1C_ENST00000399641.1_Silent_p.L1482L|CACNA1C_ENST00000399644.1_Silent_p.L1482L|CACNA1C_ENST00000399601.1_Silent_p.L1482L|CACNA1C_ENST00000399649.1_Silent_p.L1469L|CACNA1C_ENST00000402845.3_Silent_p.L1482L|CACNA1C_ENST00000327702.7_Silent_p.L1482L|CACNA1C_ENST00000399595.1_Silent_p.L1471L|CACNA1C_ENST00000399617.1_Silent_p.L1482L|CACNA1C_ENST00000399597.1_Silent_p.L1482L|CACNA1C_ENST00000335762.5_Silent_p.L1507L|CACNA1C_ENST00000399638.1_Silent_p.L1510L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1530	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGACTACCTGACAAGGGACT	0.488000													17	27					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214251	3214251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3214251A>G	ENST00000380059.3	-	7	868	c.767T>C	c.(766-768)gTg>gCg	p.V256A	SLC4A11_ENST00000539553.1_Missense_Mutation_p.V213A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.V229A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	229					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGATGCACACGTGCCGCTT	0.642000													5	33					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46956757	46956757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46956757G>A	ENST00000269445.6	-	2	465	c.8C>T	c.(7-9)tCg>tTg	p.S3L	DYM_ENST00000442713.2_Missense_Mutation_p.S3L|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	3						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCTATTCGATCCCATCTT	0.348000													39	57					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92330558	92330558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92330558C>A	ENST00000276609.3	+	5	831	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.L198I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L198I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	198						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTCAAATATCTCTTGGGAAT	0.443000													8	80					5.18039e-06	5.91835e-06	1	1	0
DLX6	1750	broad.mit.edu	37	7	96639119	96639119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96639119G>A	ENST00000518156.2	+	3	1072	c.642G>A	c.(640-642)tgG>tgA	p.W214*	DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.W86*|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000007660.5_Nonsense_Mutation_p.W186*			P56179	DLX6_HUMAN	distal-less homeobox 6	96					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGAAGATATGGTTTCAGAACA	0.478000													75	58					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900027	46900027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46900027G>T	ENST00000359759.4	+	10	2621	c.2600G>T	c.(2599-2601)gGg>gTg	p.G867V	COL18A1_ENST00000355480.5_Missense_Mutation_p.G632V|COL18A1_ENST00000400337.2_Missense_Mutation_p.G452V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	867	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ggaccccaagggcctccaggg	0.647000													18	15					9.16793e-09	1.10245e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179474164	179474164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179474164C>A	ENST00000589042.1	-	273	52097	c.51873G>T	c.(51871-51873)gaG>gaT	p.E17291D	TTN_ENST00000460472.2_Missense_Mutation_p.E8226D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14723D|TTN_ENST00000359218.5_Missense_Mutation_p.E8351D|TTN_ENST00000342175.6_Missense_Mutation_p.E8418D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15650D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15650	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAATTTCCTCTGGTACAA	0.413000													11	36					6.40141e-05	7.11719e-05	1	1	0
CBLN3	643866	broad.mit.edu	37	14	24897112	24897112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897112G>A	ENST00000267406.6	-	3	971	c.501C>T	c.(499-501)agC>agT	p.S167S	CBLN3_ENST00000555436.1_Silent_p.S116S	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	167	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGCACAGAGCTGGTGGCTG	0.602000													44	56					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128585	152128585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152128585G>T	ENST00000316073.3	-	3	1054	c.990C>A	c.(988-990)caC>caA	p.H330Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	330	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGACTGTAGTGGGAACTCT	0.488000													64	736					1.34159e-35	1.80544e-35	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206166242	206166242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206166242C>T	ENST00000406610.2	+	18	2654	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PARD3B_ENST00000351153.1_Missense_Mutation_p.S747F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S816F|PARD3B_ENST00000349953.3_Missense_Mutation_p.S816F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S754F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	816					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATTGTGAGTCTGCCCCTCAG	0.453000													5	97					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7231164	7231164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7231164C>T	ENST00000399464.2	-	2	337	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A108T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A108T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGTCCAGCGCTGTCACCCCA	0.617000													10	10					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151870016G>T	ENST00000329342.5	+	3	931	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	236	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532000													18	190					6.94344e-10	8.49476e-10	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86304298	86304298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86304298C>T	ENST00000370571.2	-	43	4017	c.3651G>A	c.(3649-3651)gaG>gaA	p.E1217E	COL24A1_ENST00000436319.1_Silent_p.E1217E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1217	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCTCTCCTCTCTCTCCTTGGT	0.418000													7	155					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693430	100693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100693430C>T	ENST00000259456.3	-	4	390	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	83	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCAATTCTGTGTTTTGT	0.433000													23	59					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185320164	185320164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185320164C>T	ENST00000393593.3	-	7	806	c.599G>A	c.(598-600)tGc>tAc	p.C200Y		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	200					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TACAACTTGGCAAATGTCTGG	0.507000													6	52					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112579001	112579001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112579001G>A	ENST00000257604.5	+	5	1233	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A206T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	206					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAACATTACAGCCCAGGTTTC	0.483000													28	35					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7239607	7239607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7239607T>C	ENST00000361972.4	-	15	1691	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N534S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	534					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACACCTGTGGTTGATGAAGAG	0.542000													6	57					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70519876	70519876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70519876C>T	ENST00000535149.1	+	10	1742	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	NONO_ENST00000373841.1_Missense_Mutation_p.R456C|NONO_ENST00000373856.3_Missense_Mutation_p.R456C|NONO_ENST00000276079.8_Missense_Mutation_p.R456C|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	456	DBHS.			QQ -> HE (in Ref. 3 and 4).	DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCATTCAACCGTGCAGCTCC	0.458000			T	TFE3	papillary renal cancer								33	50					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321958	78321958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78321958C>A	ENST00000582970.1	+	29	9966	c.9823C>A	c.(9823-9825)Ctg>Atg	p.L3275M	RNF213_ENST00000336301.6_Missense_Mutation_p.L1348M|RNF213_ENST00000508628.2_Missense_Mutation_p.L3324M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCCTACTCGCTGGGCGGGTT	0.597000													6	42					0.000157383	0.00017284	1	1	0
PCGF5	84333	broad.mit.edu	37	10	93008278	93008278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008278G>T	ENST00000336126.5	+	4	458	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.E76*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CAATACATTAGAGGAAATTAT	0.353000													15	109					3.45872e-05	3.88335e-05	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106903277	106903277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903277C>T	ENST00000228347.4	+	28	3574	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.Q1060*|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1118					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGGAACTACAGTCTATGAA	0.443000													22	55					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15518967	15518967	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15518967G>T	ENST00000455584.2	-	8	1635	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	CDRT1_ENST00000395906.3_Missense_Mutation_p.S221Y																							ACCAGGGTTAGATGCTGCCCC	0.517000													14	24					0.000308642	0.000336111	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95210632	95210632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95210632G>T	ENST00000354268.4	+	24	3101	c.3028G>T	c.(3028-3030)Ggg>Tgg	p.G1010W	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.G580W|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.G1012W			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1010	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1010W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGTGATGAAGGGAGTATGCC	0.313000													9	126					3.09899e-07	3.63227e-07	1	1	0
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77844099G>T	ENST00000216471.4	+	1	624	c.338G>T	c.(337-339)aGa>aTa	p.R113I	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493000													11	155					0.000978159	0.00105116	1	1	0
UNC119	9094	broad.mit.edu	37	17	26874428	26874428	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26874428C>T	ENST00000484980.1	-	4	3487		c.e4-1		UNC119_ENST00000470125.1_3'UTR|UNC119_ENST00000301032.4_3'UTR|UNC119_ENST00000335765.4_Splice_Site			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					ATCTCGCTGACTGCAAGAGAG	0.582000													9	11					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143182	49143182	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143182T>C	ENST00000055335.6	+	4	2046	c.2030T>C	c.(2029-2031)gTc>gCc	p.V677A	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V348A|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V331A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	677						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGATAGAGGTCACCAGTGAG	0.592000													6	12					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388000													6	57					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693336	49693336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49693336G>A	ENST00000296452.4	+	5	6461	c.6347G>A	c.(6346-6348)gGc>gAc	p.G2116D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2116					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGCATGGCAGTGGTGGT	0.642000													11	42					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652821	46652821	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46652821G>T	ENST00000253255.5	-	1	6398	c.6399C>A	c.(6397-6399)gtC>gtA	p.V2133V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2133					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAAAGCTGAGACACAATAGG	0.413000													16	34					6.94344e-10	8.49476e-10	1	1	0
HDAC5	10014	broad.mit.edu	37	17	42168852	42168852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168852C>T	ENST00000225983.6	-	11	1499	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	HDAC5_ENST00000336057.5_Silent_p.P391P|HDAC5_ENST00000393622.2_Silent_p.P391P|HDAC5_ENST00000586802.1_Silent_p.P391P			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	391					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCGACAGCTTCGGGGAGGCCT	0.617000													4	18					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575278	60575278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575278C>A	ENST00000252996.3	-	11	2688	c.2689G>T	c.(2689-2691)Gat>Tat	p.D897Y		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	897					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D897N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTTACTACATCTGGATGTAAT	0.348000													5	80					0.000602214	0.000649039	1	1	0
MROH6	642475	broad.mit.edu	37	8	144651884	144651884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144651884C>T	ENST00000398882.3	-	8	1541	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T	MROH6_ENST00000533679.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		CGATTCAGCGCGAGGTGGCCC	0.692000													19	19					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397683	10397683	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10397683T>C	ENST00000226207.5	-	39	5749	c.5655A>G	c.(5653-5655)caA>caG	p.Q1885Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCAGCTTGTCTCTTGT	0.428000													10	97					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828539	18828539	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18828539G>T	ENST00000396576.2	+	13	2205	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	CACNB2_ENST00000282343.8_Missense_Mutation_p.K595N|CACNB2_ENST00000352115.6_Missense_Mutation_p.K599N|CACNB2_ENST00000377315.4_Missense_Mutation_p.K575N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.K571N|CACNB2_ENST00000377319.3_Missense_Mutation_p.K530N|CACNB2_ENST00000324631.7_Missense_Mutation_p.K623N|CACNB2_ENST00000377329.4_Missense_Mutation_p.K569N|CACNB2_ENST00000377328.1_Missense_Mutation_p.K373N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	623					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCAACAAGCAGCGCAGCC	0.547000													22	32					3.73194e-20	4.89492e-20	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206632219	206632219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632219C>T	ENST00000414007.1	+	18	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SRGAP2_ENST00000419187.2_Missense_Mutation_p.238_238insW			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	920	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCACAGATCCGGAAGACTGC	0.552000													8	15					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750562	50750562	+	Missense_Mutation	SNP	G	G	A	rs104895445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750562G>A	ENST00000300589.2	+	5	2632	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	843			E -> K (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCACTGCGAGCAATTGCA	0.493000													9	18					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456237	16456237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16456237G>A	ENST00000395824.1	-	6	1836	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H407Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GATGAGATATGCCTAAACTCT	0.433000													19	148					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934794	2934794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2934794A>G	ENST00000314531.4	-	4	423	c.331T>C	c.(331-333)Tgt>Cgt	p.C111R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTTTCACAGAGTCTCCCC	0.413000													49	65					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717733	155717733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155717733G>T	ENST00000452804.2	+	7	1001	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	0					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATTGGGAGAGTGGCTTAATG	0.488000													4	30					0.150653	0.152692	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342331	58342331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58342331C>T	ENST00000371015.1	+	5	1099	c.632C>T	c.(631-633)gCt>gTt	p.A211V	PHACTR3_ENST00000359926.3_Missense_Mutation_p.A208V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A170V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A170V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A170V|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	211						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAGCTGGGGCTGACTCCCTG	0.622000													7	42					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587498	101587498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101587498T>C	ENST00000536262.2	-	5	1155	c.597A>G	c.(595-597)ggA>ggG	p.G199G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	199					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGATGCAAATCCAGCCACCA	0.393000													46	83					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053092	50053092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053092A>G	ENST00000376042.1	+	6	2221	c.1923A>G	c.(1921-1923)gcA>gcG	p.A641A	CCNB3_ENST00000276014.7_Silent_p.A641A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	641					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AACCATCTGCATTGAAAGAGA	0.453000													5	24					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21367644	21367644	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367644G>T	ENST00000377191.3	+	29	2882	c.2787_splice	c.e29+1	p.Q929_splice	XRN2_ENST00000539513.1_Splice_Site_p.Q875_splice|XRN2_ENST00000430571.2_Splice_Site_p.Q853_splice	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	929					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGGGAGACAGGTAAATGGTT	0.483000													25	40					1.2476e-16	1.61147e-16	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43021271	43021271	+	Silent	SNP	G	G	A	rs139104502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43021271G>A	ENST00000356231.3	-	19	2618	c.2595C>T	c.(2593-2595)acC>acT	p.T865T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	865						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGAACTCTACGGTCCGGCGCA	0.562000													6	79					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158225851G>T	ENST00000289429.5	+	3	916	c.383G>T	c.(382-384)gGa>gTa	p.G128V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	128					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438000													9	98					0.000673444	0.000724755	1	1	0
ZSCAN29	146050	broad.mit.edu	37	15	43661813	43661813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43661813G>T	ENST00000396976.2	-	1	433	c.299C>A	c.(298-300)cCt>cAt	p.P100H	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P99H|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P100H|TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P99H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTTCCAGGCTCTCTTTC	0.463000													6	79					2.0095e-06	2.31757e-06	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95080923	95080923	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95080923T>A	ENST00000553947.1	+	5	1108	c.220T>A	c.(220-222)Tta>Ata	p.L74I	SERPINA3_ENST00000393080.4_Missense_Mutation_p.L49I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.L49I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L49I			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	49					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACCTCGGATTAGCCTCCGC	0.562000													10	87					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132706	154132706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154132706C>T	ENST00000360256.4	-	17	5880	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1894	F5/8 type A 3.|Plastocyanin-like 6.		E -> G (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAGCAAATTCCTGTACTGTC	0.468000													77	145					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78593207	78593207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78593207A>G	ENST00000397909.2	+	37	6784	c.6611A>G	c.(6610-6612)aAc>aGc	p.N2204S	NAV3_ENST00000536525.2_Missense_Mutation_p.N2182S|NAV3_ENST00000228327.6_Missense_Mutation_p.N2182S|NAV3_ENST00000541270.1_Missense_Mutation_p.N34S|NAV3_ENST00000266692.7_Missense_Mutation_p.N2005S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2204						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGAAAGGAACATTCGCAAT	0.368000										HNSCC(70;0.22)			4	75					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48596022	48596022	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596022A>G	ENST00000262384.3	-	2	768	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	178					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAGTGGGCAAAATCAACAAA	0.383000													17	40					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275770	58275770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58275770C>T	ENST00000300896.4	-	27	3479	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	USP32_ENST00000592339.1_Silent_p.K765K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1095					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGGGCGATTCTTCTGAGATG	0.443000													25	40					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864331	50864331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864331C>T	ENST00000253719.2	-	5	743	c.535G>A	c.(535-537)Gct>Act	p.A179T	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	179					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGGCAAAAGCGAAGACCAGG	0.522000													5	124					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140432410	140432410	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140432410T>C	ENST00000306549.3	+	1	1432	c.1355T>C	c.(1354-1356)tTt>tCt	p.F452S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCAATATTTCGGGAAGAT	0.433000													5	88					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289054	125289054	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125289054A>G	ENST00000304880.2	-	1	518	c.519T>C	c.(517-519)gcT>gcC	p.A173A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGAGCAATTTCCC	0.502000													7	18					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3190967	3190967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3190967G>A	ENST00000396878.3	+	6	1474	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ZNF213_ENST00000416391.2_Silent_p.A175A|ZNF213_ENST00000576416.1_Silent_p.A333A|ZNF213_ENST00000574902.1_Silent_p.A333A	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGACCTGGCGCGGCACCAGC	0.706000													4	7					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992534	42992534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42992534C>A	ENST00000253408.5	-	1	386	c.321G>T	c.(319-321)aaG>aaT	p.K107N	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.K107N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.K107N	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	107	Linker 1.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGTGGGCTCCTTGGCCCGCA	0.617000													17	46					0.00498961	0.00524755	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38306250	38306250	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38306250C>A	ENST00000374618.3	+	4	364	c.186C>A	c.(184-186)ttC>ttA	p.F62L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.F62L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F69L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000476504.1_3'UTR	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGTGATCTTCAGGCTGCAAC	0.443000													8	122					3.09899e-07	3.63227e-07	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.					cytoplasm|cytoskeleton	binding	p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657000													18	33					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711150	135711150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711150C>T	ENST00000264157.5	+	9	1155	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CCNT2_ENST00000537343.1_Silent_p.S200S|CCNT2_ENST00000295238.6_Silent_p.S375S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	375					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTCTGGTAGCCAGTACAACA	0.423000													55	67					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411583	51411583	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:51411583A>C	ENST00000319760.6	-	1	865	c.813T>G	c.(811-813)ttT>ttG	p.F271L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAATGGTATAAAACACAGTCA	0.348000													27	22					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981791	139981791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981791C>A	ENST00000394235.2	-	9	1310	c.808G>T	c.(808-810)Gga>Tga	p.G270*	ELF2_ENST00000379549.2_Nonsense_Mutation_p.G193*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.G222*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.G282*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.G210*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.G270*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	282					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AGCCTCTGTCCTTCAACCTTT	0.398000													44	83					1.30409e-13	1.65622e-13	1	1	0
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55739531T>C	ENST00000370830.3	-	1	831	c.133A>G	c.(133-135)Aac>Gac	p.N45D	BMP5_ENST00000446683.2_Missense_Mutation_p.N45D	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463000													54	81					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230881	13230881	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13230881C>T	ENST00000378694.1	+	9	1291	c.1215_splice	c.e9-1	p.R406_splice	MCM10_ENST00000484800.2_Splice_Site_p.R407_splice|MCM10_ENST00000378714.3_Splice_Site_p.R406_splice			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	407	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCTTTTGCAGCGTGACTGTGA	0.557000													43	93					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60903418	60903418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60903418G>T	ENST00000252999.3	-	35	4597	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1511	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGGCACAGCAGGCAGTCG	0.677000													3	4					0.000602214	0.000649039	1	1	0
NOS1	4842	broad.mit.edu	37	12	117655919	117655919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117655919G>A	ENST00000317775.6	-	28	4906	c.4221C>T	c.(4219-4221)taC>taT	p.Y1407Y	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y1441Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1407				Y -> I (in Ref. 3; AAA36376).	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTCACTTCGTACGTTCGCA	0.488000													10	350					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47548008C>T	ENST00000334194.3	+	4	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448000													17	31					0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133682649	133682649	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682649A>T	ENST00000355557.2	+	5	2069	c.786A>T	c.(784-786)cgA>cgT	p.R262R	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Silent_p.R159R	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCACTCGACATCAAAGAA	0.413000													19	24					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699143	79699143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79699143C>T	ENST00000538312.1	+	5	1439	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FAM46D_ENST00000308293.5_Missense_Mutation_p.P369S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	369										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATACCTGAGCCACCCCCCGT	0.413000													14	18					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76823762	76823762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76823762C>T	ENST00000278559.3	+	4	614	c.425C>T	c.(424-426)aCa>aTa	p.T142I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.T142I|CAPN5_ENST00000456580.2_Missense_Mutation_p.T182I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	142	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGCTGCCCACAGTCAACAAC	0.597000													6	36					0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76169105	76169105	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76169105G>T	ENST00000377595.3	+	7	559	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	UCHL3_ENST00000606347.1_3'UTR|RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	177					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGTTCATGTAGATGGGCATCT	0.333000													14	213					4.93089e-13	6.23885e-13	1	1	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism				13	16					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234205	18234205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18234205C>A	ENST00000229002.2	-	6	744	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	RERGL_ENST00000538724.1_Nonsense_Mutation_p.E179*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	180	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CGTCTCTTTTCTTTGAGTTTG	0.393000													16	41					3.41278e-10	4.19267e-10	1	1	0
LY9	4063	broad.mit.edu	37	1	160771667	160771667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160771667G>A	ENST00000368039.2	+	3	543	c.542G>A	c.(541-543)aGc>aAc	p.S181N	LY9_ENST00000471816.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCATCATCAGCACCCTGGCT	0.642000													53	97					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82182260	82182260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82182260G>A	ENST00000372181.1	+	2	736	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	FAM213A_ENST00000372188.1_Missense_Mutation_p.R89Q|FAM213A_ENST00000372187.5_Missense_Mutation_p.R89Q|FAM213A_ENST00000372185.1_Missense_Mutation_p.R78Q	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	89						extracellular region											TTCCTCTGTCGAGAGGTGAGT	0.502000													5	38					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394358	233394358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394358G>A	ENST00000258229.8	-	5	1484	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	417						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAACCGGCCGCCCCTGGGTT	0.572000													41	88					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56374499	56374499	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374499T>C	ENST00000370754.5	-	74	18859	c.18860A>G	c.(18859-18861)cAg>cGg	p.Q6287R	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q6109R|DST_ENST00000421834.2_Missense_Mutation_p.Q4021R|DST_ENST00000370788.2_Missense_Mutation_p.Q3912R|DST_ENST00000244364.6_Missense_Mutation_p.Q3695R|DST_ENST00000361203.3_Missense_Mutation_p.Q5998R|DST_ENST00000446842.2_Missense_Mutation_p.Q5783R|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6107					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCCCCTCTGTTTAAGAGT	0.388000													15	30					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112575078	112575078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112575078G>A	ENST00000368638.4	-	2	545	c.275C>T	c.(274-276)tCt>tTt	p.S92F	RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000453937.2_Missense_Mutation_p.S92F|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000522006.1_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGAGGCGGAGAGAGAGAGAA	0.587000													12	23					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45728465	45728465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45728465T>C	ENST00000216214.3	+	7	1645	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	FAM118A_ENST00000405548.3_Missense_Mutation_p.F89L|FAM118A_ENST00000441876.2_Missense_Mutation_p.F271L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	271						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAAGACCATTTCTTTAAGCA	0.463000													38	57					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119334871	119334871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119334871G>A	ENST00000273371.4	+	6	749	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	226					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537000													4	22					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524161	43524161	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524161G>T	ENST00000400427.1	+	9	1663	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	UMODL1_ENST00000408989.2_Missense_Mutation_p.V495L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V423L|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408910.2_Missense_Mutation_p.V495L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	495	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGCACAGTGTTCCAGAT	0.622000													7	71					0.00621372	0.00652201	1	1	0
NR6A1	2649	broad.mit.edu	37	9	127298239	127298239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127298239G>T	ENST00000487099.2	-	7	1154	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	NR6A1_ENST00000373584.3_Missense_Mutation_p.L329I|NR6A1_ENST00000416460.2_Missense_Mutation_p.L328I|NR6A1_ENST00000344523.4_Missense_Mutation_p.L332I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	333					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAAACGGTGAGGGAAGACAGC	0.532000													10	82					2.74318e-10	3.37541e-10	1	1	0
NFIX	4784	broad.mit.edu	37	19	13184238	13184238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184238C>T	ENST00000358552.3	+	3	622	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	NFIX_ENST00000397661.2_Missense_Mutation_p.H209Y|NFIX_ENST00000587260.1_Missense_Mutation_p.H208Y|NFIX_ENST00000360105.4_Missense_Mutation_p.H212Y|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Missense_Mutation_p.H162Y|NFIX_ENST00000592199.1_Missense_Mutation_p.H209Y|NFIX_ENST00000587760.1_Missense_Mutation_p.H201Y|NFIX_ENST00000585575.1_Missense_Mutation_p.H201Y			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	209					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCTTCAGGGCACTTAAGTTT	0.532000													14	30					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56602991	56602991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56602991G>A	ENST00000407595.2	+	5	1995	c.1493G>A	c.(1492-1494)aGt>aAt	p.S498N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	498										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGTAACAGTTCACCCAAC	0.428000													17	31					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201737	21201737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21201737G>A	ENST00000342679.4	+	2	311	c.62G>A	c.(61-63)aGg>aAg	p.R21K	MAP2K3_ENST00000361818.5_5'UTR|MAP2K3_ENST00000316920.6_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	21					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAATCCAAGAGGAAGAAGGAT	0.572000													49	192					0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84379555	84379555	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84379555A>C	ENST00000295491.4	+	3	320	c.207A>C	c.(205-207)ggA>ggC	p.G69G	MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	69					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TCTTGTGTGGAAAGCATGTAG	0.328000													20	45					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52409983	52409983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52409983G>A	ENST00000420323.2	+	46	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2391	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTCCTTGGAGAAAAAAGC	0.607000													34	58					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201211	48201211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48201211C>T	ENST00000394747.1	-	29	4472	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1337T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1375T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1375T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1375	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTGGCTGTGGCCATGAGGGCT	0.572000													39	64					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992225	72992225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992225T>C	ENST00000268489.5	-	2	2492	c.1820A>G	c.(1819-1821)gAa>gGa	p.E607G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	607					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGTGCTTTCATTTGGTTC	0.617000													4	43					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534933	70534933	+	Missense_Mutation	SNP	G	G	A	rs140920304		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70534933G>A	ENST00000323786.5	-	9	1144	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	371					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTGAGGAAGCGTAAGTATAGC	0.483000													4	63					0	0	1	0	0
TMBIM1	64114	broad.mit.edu	37	2	219144799	219144799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219144799C>T	ENST00000444881.1	-	4	978	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.G85R|TMBIM1_ENST00000445635.1_5'UTR|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G85R			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	85						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCAGGCCCGAAGCTATCA	0.587000													21	43					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931707	73931707	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931707G>T	ENST00000302351.4	-	2	1734	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	ENC1_ENST00000537006.1_Missense_Mutation_p.L202M|ENC1_ENST00000510316.1_Missense_Mutation_p.L129M	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	202					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTGTCTCCAGCTCTTCACTG	0.483000													8	109					0.00448238	0.00472561	1	1	0
SLC25A28	81894	broad.mit.edu	37	10	101373480	101373480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101373480G>T	ENST00000370495.4	-	2	521	c.493C>A	c.(493-495)Cct>Act	p.P165T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	165					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTGCCCCCAGGGTGGATTACA	0.522000													4	35					0.00909568	0.00947522	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53740687	53740687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53740687G>A	ENST00000333952.4	-	5	1458	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	ZNF677_ENST00000598513.1_Silent_p.H431H			Q86XU0	ZN677_HUMAN	zinc finger protein 677	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTGTGGTTTCT	0.398000													17	35					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824752	8824752	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8824752T>G	ENST00000359865.3	+	15	3386	c.3244T>G	c.(3244-3246)Ttc>Gtc	p.F1082V	SOGA2_ENST00000518815.1_Missense_Mutation_p.F407V|SOGA2_ENST00000400050.3_Missense_Mutation_p.F1041V|SOGA2_ENST00000306329.11_Missense_Mutation_p.F1401V|SOGA2_ENST00000517570.1_Missense_Mutation_p.F1041V|SOGA2_ENST00000306285.7_Missense_Mutation_p.F407V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1392																	CATCTCCCCCTTCCTGCCTGA	0.582000													3	31					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18912469	18912469	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18912469G>A	ENST00000379942.4	-	32	4055	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGCGGCACGCGGTTCAGCA	0.602000													25	45					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109769590	109769590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109769590G>T	ENST00000368952.4	-	13	2018	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	MICAL1_ENST00000358807.3_Silent_p.P557P|MICAL1_ENST00000358577.3_Silent_p.P471P			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	557	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGCTCTGAGGGTTCCCTGT	0.607000													11	104					9.70103e-10	1.18443e-09	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597000													4	48					0.00024832	0.0002712	1	1	0
DVL3	1857	broad.mit.edu	37	3	183882303	183882303	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183882303A>G	ENST00000313143.3	+	4	625	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.Q126R|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	126					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCAGCCAGGAGAACCTG	0.647000													4	42					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091873	74091873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74091873G>A	ENST00000443185.2	-	4	2514	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTAAATCTAGCGGCATGAGG	0.612000													5	31					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114999	56114999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56114999C>A	ENST00000288221.6	-	7	1742	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	496						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCGTAATCTCAGCGCATC	0.438000													9	16					5.16669e-11	6.41398e-11	1	1	0
TUBD1	51174	broad.mit.edu	37	17	57941091	57941091	+	Missense_Mutation	SNP	T	T	G	rs76302921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57941091T>G	ENST00000325752.3	-	8	1470	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.N398T|TUBD1_ENST00000376094.4_Missense_Mutation_p.N296T|TUBD1_ENST00000346141.6_Missense_Mutation_p.N144T|TUBD1_ENST00000539018.1_Missense_Mutation_p.N182T|TUBD1_ENST00000340993.6_Missense_Mutation_p.N343T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	398				N -> D (in Ref. 3; BAB14825).	cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAACTGGCTGTTGCTGACCAA	0.398000													38	62					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507280	1507280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1507280C>T	ENST00000330475.4	-	9	1256	c.813G>A	c.(811-813)ttG>ttA	p.L271L	ADAMTSL5_ENST00000413997.2_Silent_p.L281L|ADAMTSL5_ENST00000395467.2_Silent_p.L40L|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	271						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGCTTGCAATGTCTCCT	0.667000													29	45					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25457323	25457323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25457323C>T	ENST00000381884.4	-	17	4194	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1337					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGTCACAGCTCCGTGTCCATT	0.378000													36	67					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5747416	5747416	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5747416A>G	ENST00000414202.2	+	12	1554	c.1363A>G	c.(1363-1365)Agt>Ggt	p.S455G	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S376G|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S455G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	455						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCATAAGCCCAGTCGAGAAAA	0.468000													18	54					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23690654	23690654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23690654G>A	ENST00000300093.4	+	1	512	c.401G>A	c.(400-402)cGc>cAc	p.R134H	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	134	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTCTGCCGCCGGAGGGTG	0.607000													10	23					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928081	18928081	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18928081G>T	ENST00000380534.4	-	4	1673	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	FAM154A_ENST00000542071.1_Missense_Mutation_p.P273H|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	465										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCTCTGGTTGGGGTTTTCTGA	0.403000													54	74					7.10676e-39	9.58126e-39	1	1	0
HTR3A	3359	broad.mit.edu	37	11	113857370	113857370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113857370C>A	ENST00000504030.2	+	7	1281	c.836C>A	c.(835-837)aCa>aAa	p.T279K	HTR3A_ENST00000355556.2_Missense_Mutation_p.T285K|HTR3A_ENST00000506841.2_Missense_Mutation_p.T279K|HTR3A_ENST00000535865.1_Missense_Mutation_p.T23K|HTR3A_ENST00000375498.2_Missense_Mutation_p.T285K|HTR3A_ENST00000299961.5_Missense_Mutation_p.T264K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	279					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCAAGATTACACTCCTCCTG	0.587000													4	49					2.56e-06	2.9446e-06	1	1	0
IGHV1-24	0	broad.mit.edu	37	14	106733396	106733396	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106733396A>G	ENST00000390610.2	-	0	158																											CTGAGGCCCCAGGCTTCTTCA	0.577000													13	126					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139357	58139357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58139357C>T	ENST00000295956.4	+	39	6788	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V	FLNB_ENST00000429972.2_Missense_Mutation_p.A2197V|FLNB_ENST00000358537.3_Missense_Mutation_p.A2184V|FLNB_ENST00000490882.1_Missense_Mutation_p.A2239V|FLNB_ENST00000419752.2_Missense_Mutation_p.A2028V|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.A2167V|FLNB_ENST00000493452.1_Missense_Mutation_p.A2015V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2208	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2239V(1)|p.A2208V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGAGAAGCGGGAGTCCCA	0.607000													8	15					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258454	2258454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258454C>T	ENST00000301725.7	+	7	634	c.634C>T	c.(634-636)Cct>Tct	p.P212S	MLST8_ENST00000565250.1_Silent_p.L234L|MLST8_ENST00000397124.1_Silent_p.L234L|MLST8_ENST00000564088.1_Silent_p.L234L|MLST8_ENST00000382450.4_Silent_p.L233L|MLST8_ENST00000569417.1_Silent_p.L234L|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Silent_p.L234L			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCACTAGGCTCCTCGCCACCT	0.672000													21	37					0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6621738	6621738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6621738C>T	ENST00000396706.2	+	5	669	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	ZDHHC4_ENST00000335965.6_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396713.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396707.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396709.1_Nonsense_Mutation_p.Q76*|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Nonsense_Mutation_p.Q76*			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	76						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGGTCTTGCAAGGGATGGT	0.453000													53	149					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121214568	121214568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214568G>A	ENST00000392870.2	+	16	2091	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GRK5_ENST00000369108.3_Missense_Mutation_p.G483R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	588					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAACTCCACCGGAAGCAGCTA	0.547000													16	34					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593422	131593422	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131593422G>T	ENST00000261654.5	+	18	2600	c.2041_splice	c.e18+1	p.G681_splice	GPR133_ENST00000543617.1_Splice_Site_p.G200_splice|GPR133_ENST00000535015.1_Splice_Site_p.G713_splice|GPR133_ENST00000376682.4_Splice_Site_p.G367_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	681					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		gatgggatggggtaggtgggg	0.622000													25	30					2.98393e-07	3.50693e-07	1	1	0
TREX1	11277	broad.mit.edu	37	3	48508920	48508920	+	Missense_Mutation	SNP	C	C	T	rs79318303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48508920C>T	ENST00000296443.9	+	3	1753	c.866C>T	c.(865-867)gCc>gTc	p.A289V	TREX1_ENST00000433541.1_Missense_Mutation_p.A150V|TREX1_ENST00000436480.2_Missense_Mutation_p.A289V|TREX1_ENST00000444177.1_Missense_Mutation_p.A279V|TREX1_ENST00000422277.2_Missense_Mutation_p.A344V|TREX1_ENST00000456089.1_Missense_Mutation_p.A150V			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	344					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGCTGGCCCCACTGGGT	0.592000													30	33					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3188447	3188447	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3188447G>A	ENST00000355072.5	+	38	5134		c.e38+1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAACACAATGGTGAGTCTCTC	0.498000													36	56					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175165105	175165105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:175165105G>A	ENST00000454872.1	+	6	1307	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	393					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCTCTTCGCCAAAAGCTA	0.378000													9	7					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8747988	8747988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8747988C>T	ENST00000276282.6	-	1	3167	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	861										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGGCTTCTGCATGGGGCACC	0.488000													8	72					0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272585	38272585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38272585G>A	ENST00000373044.2	-	3	572	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	190	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAAGCGGACCCTCAAAC	0.512000													8	62					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735951	155735951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155735951G>T	ENST00000437809.1	-	21	3435	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	GON4L_ENST00000361040.5_Missense_Mutation_p.L1105I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.L1105I|GON4L_ENST00000368331.1_Missense_Mutation_p.L1105I			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1105					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGGGGCAAGGGAGGGCAGC	0.557000													7	95					0.00198382	0.00210581	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814073	137814073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814073A>G	ENST00000409968.1	+	3	401	c.223A>G	c.(223-225)Aca>Gca	p.T75A	THSD7B_ENST00000272643.3_Missense_Mutation_p.T75A|THSD7B_ENST00000413152.2_Missense_Mutation_p.T44A					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACGGGTGGACAAGTCACCT	0.532000													18	26					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73945427	73945427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73945427C>T	ENST00000553558.1	-	18	3286	c.2965G>A	c.(2965-2967)Gct>Act	p.A989T	HEATR4_ENST00000334988.2_Missense_Mutation_p.A989T|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.A942T	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCACAGCAATCCTTTTC	0.453000													42	56					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171380	68171380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68171380G>A	ENST00000243457.3	+	2	583	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R67Q	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	67			R -> W (in LQT7).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGGGGCAACGGTACCTCGCA	0.517000													26	45					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538953	1538953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1538953C>A	ENST00000389470.4	-	8	1271	c.1272G>T	c.(1270-1272)caG>caT	p.Q424H	INTS1_ENST00000404767.3_Missense_Mutation_p.Q296H			Q8N201	INT1_HUMAN	integrator complex subunit 1	296					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAACTCCGTCTGGCTGTCCT	0.697000													5	127					0.217242	0.218821	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39881439	39881439	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39881439A>C	ENST00000303538.8	-	18	2440	c.1901T>G	c.(1900-1902)tTg>tGg	p.L634W		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	634					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTATTCATCAATTTCACTAG	0.358000													27	39					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98562283	98562283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98562283C>T	ENST00000359863.4	+	47	7049	c.6840C>T	c.(6838-6840)agC>agT	p.S2280S	TRRAP_ENST00000355540.3_Silent_p.S2262S|TRRAP_ENST00000446306.3_Silent_p.S2261S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2280	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCTGCAGCAACAACCCCA	0.478000													21	79					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083420	44083420	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44083420A>G	ENST00000262726.7	-	11	1326	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.F206S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATGTTAGAAATTGCTTCCA	0.299000													15	28					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416169	416169	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:416169A>G	ENST00000399788.2	-	24	4379	c.4017T>C	c.(4015-4017)gaT>gaC	p.D1339D	KDM5A_ENST00000382815.4_Silent_p.D1339D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1339					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTCTTCATCATCATAGTCCA	0.433000			T	NUP98	AML								5	223					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78109893	78109893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78109893C>T	ENST00000269349.3	-	11	1350	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	377	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.A377P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393000													33	42					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998682	96998682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96998682G>A	ENST00000216277.8	+	8	842	c.622G>A	c.(622-624)Gat>Aat	p.D208N	PAPOLA_ENST00000557320.1_Missense_Mutation_p.D208N|PAPOLA_ENST00000392990.2_Missense_Mutation_p.D208N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	208				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGGGTAACCGATGAAATTTT	0.348000													12	25					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312581	48312581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48312581C>T	ENST00000435803.1	+	17	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1106					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318000													21	36					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549333	23549333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549333C>A	ENST00000262710.1	-	6	1712	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	ACIN1_ENST00000605057.1_Missense_Mutation_p.R404M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R422M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R462M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	462					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAATAGCTCCCTGGTGTCAGC	0.502000													7	71					5.18039e-06	5.91835e-06	1	1	0
SCAMP4	113178	broad.mit.edu	37	19	1918987	1918987	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1918987G>A	ENST00000316097.8	+	5	660	c.393G>A	c.(391-393)gcG>gcA	p.A131A	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	131					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGGCGCGTGGTAAGCCT	0.612000													3	8					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080059	5080059	+	Nonsense_Mutation	SNP	G	G	A	rs146178299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080059G>A	ENST00000321522.2	-	1	798	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATTTCGGCCAAAGCGA	0.473000													30	17					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197074288	197074288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197074288G>A	ENST00000367409.4	-	18	4349	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1365	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAATCTTTGTCTAGTGGAA	0.303000													39	40					0	0	1	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339264	97339264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97339264T>C	ENST00000316149.7	-	3	323	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	82					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCAGCAGCTTTTACCTAGTAT	0.328000													12	63					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240966253C>T	ENST00000366565.1	-	16	1691	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343000													50	80					0	0	1	0	0
GNB5	0	broad.mit.edu	37	15	52446271	52446271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52446271G>A	ENST00000261837.7	-	4	306	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	GNB5_ENST00000358784.7_Missense_Mutation_p.H39Y|GNB5_ENST00000560116.1_Missense_Mutation_p.H39Y|GNB5_ENST00000396335.4_Missense_Mutation_p.H39Y	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	81						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCACCTGGTGCACTGGAATG	0.592000													12	6					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868649	56868649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56868649G>A	ENST00000564887.1	+	14	2001	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NUP93_ENST00000542526.1_Missense_Mutation_p.D458N|NUP93_ENST00000308159.5_Missense_Mutation_p.D581N|NUP93_ENST00000569842.1_Missense_Mutation_p.D581N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCACAGTTCGATATGATTCT	0.338000													6	42					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220078891	220078891	+	Silent	SNP	G	G	A	rs144749234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	468	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488000													28	58					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883969	39883969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39883969G>A	ENST00000341184.6	+	2	832	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	206					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGTGCCGCGCCGCGTCATC	0.677000													8	8					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88901652G>A	ENST00000268695.5	-	8	955	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNS_ENST00000542788.1_Silent_p.N214N	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602000													6	10					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114128135	114128135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114128135G>A	ENST00000369615.1	+	4	742	c.680G>A	c.(679-681)aGc>aAc	p.S227N	MAGI3_ENST00000369617.4_Missense_Mutation_p.S227N|MAGI3_ENST00000307546.9_Missense_Mutation_p.S227N|MAGI3_ENST00000369611.4_Missense_Mutation_p.S227N	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	227	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCTGTCAGCAAGATGGAA	0.428000													23	46					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422836	156422836	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422836G>T	ENST00000461166.1	+	6	2478	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	TIPARP_ENST00000542783.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000486483.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000295924.7_Missense_Mutation_p.Q630H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	630	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ttgagcctcagatttttgtca	0.413000													8	69					0.0381472	0.0390147	1	1	0
SFN	2810	broad.mit.edu	37	1	27189909	27189909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27189909G>A	ENST00000339276.4	+	1	277	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	69					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCAGAAAAGCAACGAGGAG	0.627000													24	40					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085221	152085221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152085221G>A	ENST00000368804.1	-	2	471	c.472C>T	c.(472-474)Caa>Taa	p.Q158*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	158					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCGCTCTTGTTTCTCACTT	0.597000													77	82					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10772829	10772829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772829C>A	ENST00000075503.3	-	11	1703	c.1183G>T	c.(1183-1185)Gta>Tta	p.V395L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	395			V -> I (in a glioblastoma multiforme sample; somatic mutation).			integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V395I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTCTGGTACTTGTAACACA	0.552000										HNSCC(73;0.22)			8	193					3.86212e-05	4.30401e-05	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63988555	63988555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63988555G>A	ENST00000279227.5	+	13	1720	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCCCAGCTGCGCTTCATCCAG	0.667000													20	51					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70125397	70125397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70125397C>A	ENST00000342745.4	+	2	401	c.88C>A	c.(88-90)Ctt>Att	p.L30I		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	30						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GCTAGTGATCCTTTGCACCCT	0.517000													4	97					0.000602214	0.000649039	1	1	0
ZNF431	170959	broad.mit.edu	37	19	21366001	21366001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366001C>T	ENST00000311048.7	+	5	1039	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTTCAACCGGTCCTCACA	0.408000													8	43					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497775	52497775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497775G>T	ENST00000602063.1	-	6	903	c.554C>A	c.(553-555)cCt>cAt	p.P185H	ZNF615_ENST00000594083.1_Missense_Mutation_p.P196H|ZNF615_ENST00000598071.1_Missense_Mutation_p.P196H|ZNF615_ENST00000391795.3_Missense_Mutation_p.P190H|ZNF615_ENST00000376716.5_Missense_Mutation_p.P185H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTATTAATAGGTTTTGCAAT	0.373000													11	130					4.68919e-08	5.58064e-08	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92353550G>A	ENST00000267620.10	-	8	1018	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G			Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547000													11	141					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79746290	79746290	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79746290G>A	ENST00000338008.5	+	9	3447	c.3267G>A	c.(3265-3267)ttG>ttA	p.L1089L	ZFYVE16_ENST00000510158.1_Silent_p.L1089L|ZFYVE16_ENST00000505560.1_Silent_p.L1089L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1089					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAATGGATTGCATGGCTTGG	0.299000													4	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542594	179542594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179542594C>T	ENST00000589042.1	-	146	34269	c.34045G>A	c.(34045-34047)Gag>Aag	p.E11349K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10105K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11032K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11032	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTTCCTCTTCCTGAGGT	0.383000													27	50					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380515	28380515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28380515G>T	ENST00000394835.3	+	10	1735	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E172*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E459*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E515*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	515							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGTAACTGCAGAACAAGGACC	0.398000													17	25					1.33834e-09	1.62941e-09	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163374646G>A	ENST00000332142.5	-	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_ENST00000328032.4_Silent_p.F162F|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388000													28	38					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232809	58232809	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232809A>G	ENST00000317398.6	-	4	740	c.645T>C	c.(643-645)aaT>aaC	p.N215N	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.N117N	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTTCCCTCCATTGGGCTGGT	0.517000													30	59					0	0	1	0	0
IGHV4-59	0	broad.mit.edu	37	14	107083310	107083310	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107083310G>A	ENST00000455737.1	-	0	333																											TCAGCTTCAGGGAGAACTGGT	0.532000													42	74					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034337	11034337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11034337G>T	ENST00000586748.1	-	8	840	c.668C>A	c.(667-669)cCt>cAt	p.P223H	YIPF2_ENST00000590329.1_Missense_Mutation_p.P184H|YIPF2_ENST00000253031.2_Missense_Mutation_p.P223H			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	223						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAAGGCACAGGGATGAGCCA	0.687000													4	24					0.150653	0.152692	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121706459	121706459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121706459G>A	ENST00000324774.5	-	5	1435	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CAMKK2_ENST00000392473.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R203W|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R203W	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	203	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCCTGCCGGATCAGCTTC	0.547000													6	129					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56913136	56913136	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56913136C>T	ENST00000438926.2	+	10	1361	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	SLC12A3_ENST00000563236.1_Silent_p.Y444Y|SLC12A3_ENST00000262502.5_Silent_p.Y443Y|SLC12A3_ENST00000566786.1_Silent_p.Y443Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	444					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAACTATTACCAGGTACTGC	0.627000													9	24					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170064353	170064353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170064353G>A	ENST00000333572.6	-	8	1332	c.813C>T	c.(811-813)caC>caT	p.H271H	WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Silent_p.H144H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.H271H			A2RRH5	WDR27_HUMAN	WD repeat domain 27	241										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACGATAATGGTGTCCATCCA	0.522000													11	22					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11642982	11642982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11642982C>A	ENST00000227756.4	-	1	570	c.159G>T	c.(157-159)gaG>gaT	p.E53D	GALNT18_ENST00000526064.1_5'UTR	NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CTTTGTCTTCCTCCAGCTTCT	0.577000													6	84					5.18039e-06	5.91835e-06	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46279728	46279728	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46279728G>T	ENST00000372004.3	+	20	3858	c.3642G>T	c.(3640-3642)caG>caT	p.Q1214H	NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1144H|NCOA3_ENST00000371998.3_Missense_Mutation_p.Q1218H|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1209H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1218	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTATTAGCAGGGTTTTCTTA	0.453000													5	90					0.014758	0.0152625	1	1	0
SLC7A1	6541	broad.mit.edu	37	13	30097549	30097549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30097549G>A	ENST00000380752.5	-	7	1289	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	301					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCCCAAAGTAGGCGATGA	0.597000													24	26					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772245	51772245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51772245A>G	ENST00000251076.5	-	25	6943	c.6656T>C	c.(6655-6657)aTa>aCa	p.I2219T	DMXL2_ENST00000449909.3_Missense_Mutation_p.I1583T|DMXL2_ENST00000543779.2_Missense_Mutation_p.I2219T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2219						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATTAGCTATGACTGTTTT	0.408000													20	98					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31511180	31511180	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511180G>A	ENST00000511367.2	-	8	1638	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	DROSHA_ENST00000513349.1_Missense_Mutation_p.P428L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P465L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P428L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	465					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTTCCCACGGAGGCCGAGC	0.473000													28	43					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42622809	42622809	+	Missense_Mutation	SNP	G	G	A	rs149731757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42622809G>A	ENST00000330333.6	+	7	1578	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	BACE2_ENST00000328735.6_Missense_Mutation_p.R372H|BACE2_ENST00000347667.4_Intron|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	372					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGGTCATTCCGTATCACAATC	0.468000													11	21					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65026832	65026832	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65026832A>G	ENST00000394156.3	-	5	1082	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CDH11_ENST00000268603.4_Missense_Mutation_p.V210A|CDH11_ENST00000566827.1_Missense_Mutation_p.V84A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTTCCACCGAAAAATA	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	58					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355275	38355275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38355275G>A	ENST00000373023.2	-	9	1084	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	INPP5B_ENST00000373027.1_Missense_Mutation_p.H87Y|INPP5B_ENST00000458109.2_Missense_Mutation_p.H14Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.H251Y|INPP5B_ENST00000373026.1_Missense_Mutation_p.H331Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	331					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTAGTAGATGTGATTTCACA	0.413000													43	87					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389497	19389497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389497T>C	ENST00000338883.4	-	23	3259	c.3260A>G	c.(3259-3261)cAg>cGg	p.Q1087R	MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q919R|MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q522R|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1087							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGGTGAATCTGACTGATGGA	0.537000													12	100					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211585	59211585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59211585C>A	ENST00000302030.2	+	1	969	c.944C>A	c.(943-945)tCt>tAt	p.S315Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAAGTGTTTTCTTAGGTCATG	0.443000													30	79					1.2476e-16	1.61147e-16	1	1	0
PRPF40B	25766	broad.mit.edu	37	12	50036069	50036069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50036069C>T	ENST00000261897.1	+	19	2382	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R624C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R646C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	624					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCACGCAGGATGCG	0.637000													33	60					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097491	44097491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097491C>T	ENST00000422989.1	-	3	714	c.559G>A	c.(559-561)Gag>Aag	p.E187K	IRGQ_ENST00000602269.1_Missense_Mutation_p.E187K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	187							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCCAACACCTCGAAGCCATCC	0.637000													27	30					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718343	46718343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46718343C>T	ENST00000318962.4	-	17	2010	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E643K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	643					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTCACCTCTCGCAGGACAGG	0.672000													11	70					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43223591	43223591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43223591C>T	ENST00000259750.4	+	9	941	c.858C>T	c.(856-858)taC>taT	p.Y286Y	TTBK1_ENST00000304139.5_Silent_p.Y235Y	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	286	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCCGACTACCAGGTGGGAG	0.617000													13	36					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41903923	41903923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41903923C>T	ENST00000396512.3	+	3	319	c.302C>T	c.(301-303)gCg>gTg	p.A101V	ACO2_ENST00000216254.4_Missense_Mutation_p.A101V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	101					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATGCAGGATGCGACGGCCCAG	0.602000													6	23					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55250031	55250031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55250031C>A	ENST00000342376.3	+	1	52	c.21C>A	c.(19-21)agC>agA	p.S7R	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S7R|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGTCAGCATGGTGTGTG	0.612000											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	8					4.7796e-09	5.77107e-09	1	1	0
CACUL1	143384	broad.mit.edu	37	10	120454656	120454656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120454656G>A	ENST00000369151.3	-	6	1366	c.883C>T	c.(883-885)Cca>Tca	p.P295S	CACUL1_ENST00000340214.4_Missense_Mutation_p.P295S|CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TGTTTACCTGGTCTGAGGGTA	0.403000													7	100					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074037	134074037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134074037G>A	ENST00000359428.5	+	29	5300	c.5156G>A	c.(5155-5157)gGg>gAg	p.G1719E	NUP214_ENST00000451030.1_Missense_Mutation_p.G1720E|NUP214_ENST00000483497.2_Missense_Mutation_p.G545E|NUP214_ENST00000411637.2_Missense_Mutation_p.G1709E			P35658	NU214_HUMAN	nucleoporin 214kDa	1719	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACAGCCCCAGGGGTCTTTGGA	0.587000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								14	38					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637525	46637525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637525C>T	ENST00000326737.3	-	2	510	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	88						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCTCCCATCCGAGTCTGGAA	0.502000													37	72					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040140	41040140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41040140C>T	ENST00000352632.3	+	20	4335	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.Q160*|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.Q93*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q1417*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1417					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGGTGCAGAGCTTTGC	0.612000													15	16					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102306288	102306288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102306288G>T	ENST00000299163.5	+	6	944	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	282	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCACATAGAGTCATTACT	0.488000													9	123					0.000442599	0.00048047	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228503696	228503696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228503696G>T	ENST00000570156.2	+	61	16106	c.16032G>T	c.(16030-16032)gaG>gaT	p.E5344D	OBSCN_ENST00000366707.4_Missense_Mutation_p.E2021D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1506D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4387D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4387D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4387	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAACGCCGAGGTGGTCTTCT	0.657000													6	5					3.59834e-05	4.01776e-05	1	1	0
RPL10	6134	broad.mit.edu	37	X	153627702	153627702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627702C>T	ENST00000424325.2	+	3	235	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.P16L	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAACAAGCCGTACCCAAAG	0.552000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	62					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195637	111195637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195637C>T	ENST00000262839.2	-	2	930	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	4					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTGTAGTACAGTTGGGCCA	0.483000													7	51					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516690	158516690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516690A>G	ENST00000355585.4	+	27	3860	c.3785A>G	c.(3784-3786)cAt>cGt	p.H1262R	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1217R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H347R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1262	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACTGTCCATTTTACAATC	0.532000													33	39					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31645873	31645873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31645873C>T	ENST00000357033.4	-	55	8340	c.8134G>A	c.(8134-8136)Gcc>Acc	p.A2712T	DMD_ENST00000474231.1_Missense_Mutation_p.A252T|DMD_ENST00000541735.1_Missense_Mutation_p.A252T|DMD_ENST00000378707.3_Missense_Mutation_p.A252T|DMD_ENST00000359836.1_Missense_Mutation_p.A252T|DMD_ENST00000343523.2_Missense_Mutation_p.A252T|DMD_ENST00000378677.2_Missense_Mutation_p.A2708T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2712					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGACATTGGCAGTTGTTTCA	0.473000													10	28					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178996388	178996388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178996388G>A	ENST00000377001.2	+	5	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RUFY1_ENST00000437570.2_Missense_Mutation_p.A156T|RUFY1_ENST00000393438.2_Missense_Mutation_p.A156T|RUFY1_ENST00000319449.4_Missense_Mutation_p.A264T			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	264	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCGATGCCAATCTCTG	0.443000										HNSCC(44;0.11)			42	79					0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44463100	44463100	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44463100A>G	ENST00000372542.1	+	1	567	c.255A>G	c.(253-255)gaA>gaG	p.E85E	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_Silent_p.E94E|SNX21_ENST00000372541.1_Silent_p.E85E|SNX21_ENST00000342644.5_Silent_p.E94E|SNX21_ENST00000491381.1_Silent_p.E94E			Q969T3	SNX21_HUMAN	sorting nexin family member 21	94					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGTCAGGAGAAGACGCAGGCG	0.667000													5	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408000									Kartagener syndrome				39	103					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994814	144994814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144994814C>T	ENST00000322810.4	-	32	9755	c.9586G>A	c.(9586-9588)Gaa>Aaa	p.E3196K	PLEC_ENST00000354589.3_Missense_Mutation_p.E3059K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3059K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3037K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3045K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3063K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3082K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3086K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3027K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3196	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGGCTTCCAACAGGGCC	0.662000													8	24					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988710	182988710	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182988710C>A	ENST00000326505.3	+	2	1654	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	B3GNT5_ENST00000465010.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.A375D	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	375					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTAGGGCTGCGTTTATC	0.333000													12	63					9.31168e-06	1.06029e-05	1	1	0
DDX46	9879	broad.mit.edu	37	5	134146948	134146948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134146948G>A	ENST00000452510.2	+	17	2344	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	DDX46_ENST00000354283.4_Missense_Mutation_p.R729H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	729	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCAAGCTCGCTATGCTGGT	0.373000													4	65					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835797	82835797	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82835797G>A	ENST00000265077.3	+	8	7540	c.6975G>A	c.(6973-6975)ggG>ggA	p.G2325G	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.G1338G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2325	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGTAGTGGGTCAGTAACCA	0.443000													37	56					0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93470275	93470275	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93470275T>G	ENST00000448108.2	-	4	1240	c.590A>C	c.(589-591)aAa>aCa	p.K197T		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATCCAAAAATTTGTATCTACG	0.308000													11	14					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284631	39284631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39284631G>A	ENST00000425054.2	-	4	587	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KCNK16_ENST00000373229.5_Silent_p.G196G|KCNK16_ENST00000373227.4_Silent_p.G196G|KCNK16_ENST00000437525.2_Silent_p.G196G|KCNK16_ENST00000507712.1_Silent_p.G131G	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGAAGCTCCAGCCCTCCACAT	0.532000													50	94					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189381	67189381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67189381C>T	ENST00000269081.4	-	16	2559	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	550	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCATCTAGCAGCAAAACCT	0.448000													21	37					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228004916	228004916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228004916G>T	ENST00000366757.3	+	3	342	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGGGACAAGAATATCAAAA	0.582000													27	52					4.40665e-25	5.85472e-25	1	1	0
TTN	7273	broad.mit.edu	37	2	179478634	179478634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179478634G>T	ENST00000589042.1	-	263	49600	c.49376C>A	c.(49375-49377)cCt>cAt	p.P16459H	TTN_ENST00000460472.2_Missense_Mutation_p.P7394H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13891H|TTN_ENST00000359218.5_Missense_Mutation_p.P7519H|TTN_ENST00000342175.6_Missense_Mutation_p.P7586H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14818H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14818	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCAGAAGGTTCTAGGCG	0.433000													43	73					1.61004e-24	2.13591e-24	1	1	0
NDUFV1	4723	broad.mit.edu	37	11	67377969	67377969	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67377969A>G	ENST00000322776.6	+	5	781	c.628A>G	c.(628-630)Aca>Gca	p.T210A	NDUFV1_ENST00000532303.1_Missense_Mutation_p.T109A|NDUFV1_ENST00000415352.2_Missense_Mutation_p.T203A|NDUFV1_ENST00000529927.1_Missense_Mutation_p.T201A|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	210					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGAGAGGAGACAGCGCTCAT	0.602000													31	56					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91145602	91145602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91145602A>C	ENST00000420329.2	+	4	545	c.398A>C	c.(397-399)gAt>gCt	p.D133A	CRTC3_ENST00000268184.6_Missense_Mutation_p.D133A|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	133					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCCTCTGGATGAGAGTTGG	0.318000			T	MAML2	salivary gland mucoepidermoid								3	43					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184823	13184823	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184823C>A	ENST00000358552.3	+	4	798	c.798C>A	c.(796-798)acC>acA	p.T266T	NFIX_ENST00000397661.2_Silent_p.T267T|NFIX_ENST00000587260.1_Silent_p.T266T|NFIX_ENST00000360105.4_Silent_p.T270T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Silent_p.T220T|NFIX_ENST00000592199.1_Silent_p.T267T|NFIX_ENST00000587760.1_Silent_p.T259T|NFIX_ENST00000585575.1_Silent_p.T259T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	267					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGTCCATCACCTCCCCTCCTT	0.622000													14	51					1.49906e-05	1.69169e-05	1	1	0
MIR183	0	broad.mit.edu	37	7	129414770	129414770	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129414770A>G	ENST00000384958.1	-	0	84					NR_029615.1																						TGCTCTGTTTATGGCCCTTCG	0.562000													13	11					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234672	81234672	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234672C>T	ENST00000394685.3	+	27	4112	c.3693C>T	c.(3691-3693)taC>taT	p.Y1231Y	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.Y1231Y|KIAA1199_ENST00000356249.5_Silent_p.Y1231Y			Q8WUJ3	K1199_HUMAN	KIAA1199	1231										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCGCTTACATTGAAGTAA	0.493000													26	50					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902974	60902974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60902974G>A	ENST00000252999.3	-	36	4811	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1582	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGTGCCCGCCTCGTGACA	0.667000													16	36					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136495026	136495026	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136495026C>T	ENST00000308191.6	+	9	1106	c.803_splice	c.e9+1	p.T268_splice	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	268	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.T268I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGAAATGACGTAAGTGCTG	0.458000													22	36					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62854707	62854707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854707C>T	ENST00000536311.1	+	16	2968	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.D841D			Q01538	MYT1_HUMAN	myelin transcription factor 1	841					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCTGCTGACCTCAAGTATG	0.547000													85	117					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6054859	6054859	+	Missense_Mutation	SNP	T	T	C	rs150139402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6054859T>C	ENST00000223029.3	+	2	337	c.218T>C	c.(217-219)gTt>gCt	p.V73A	AIMP2_ENST00000400479.2_5'UTR|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	73					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGCTGCAGTTGATGGCCTC	0.458000													9	122					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172398115	172398115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398115C>T	ENST00000321348.4	+	2	412	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14S	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTACAGACTGCCGTGGACCTG	0.438000													19	49					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748643	79748643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79748643T>C	ENST00000305428.3	+	2	229	c.154T>C	c.(154-156)Tac>Cac	p.Y52H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	52						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCTCTTCTACACAGCTTG	0.468000													23	46					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169635	90169635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90169635G>T	ENST00000333209.3	-	2	2145	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	543										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTACCTGAGGAGATGCAGGC	0.453000													4	53					0.00024832	0.0002712	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141298623	141298623	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141298623A>G	ENST00000389484.3	-	45	8403	c.7432T>C	c.(7432-7434)Ttg>Ctg	p.L2478L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2478L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403000										TSP Lung(27;0.18)			9	75					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12702354	12702354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12702354G>A	ENST00000388918.5	+	5	1126	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	TYRP1_ENST00000381137.2_Missense_Mutation_p.V43I|TYRP1_ENST00000381136.2_Missense_Mutation_p.V43I|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	333					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACCACAGGATGTCGCTCAGTG	0.463000									Oculocutaneous Albinism				17	30					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78423726	78423726	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78423726T>C	ENST00000278550.7	-	26	4317	c.3855A>G	c.(3853-3855)acA>acG	p.T1285T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCATGGGGTCTGTGGCCAGGT	0.493000													4	39					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461747	50461747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50461747C>T	ENST00000447370.2	-	8	1534	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	482					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGAGAGGGGGCCGGGCTGGCC	0.706000													7	13					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244936	77244936	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77244936A>G	ENST00000341514.6	+	4	973	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y273C	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	273					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTCCATCATATACCAATGAT	0.393000													78	98					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040645	88040645	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040645A>C	ENST00000319595.4	+	1	800	c.746A>C	c.(745-747)aAg>aCg	p.K249T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	249					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTACTAGAAAAGTCTTTATCT	0.408000													20	36					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67484760	67484760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67484760G>A	ENST00000522677.3	-	12	2095	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V|MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	562					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGCAGCAAGCGCATTCTTAAA	0.294000													11	11					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393669	139393669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393669G>A	ENST00000277541.6	-	32	6052	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1993					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCATCATGCATGCGGGCA	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	35					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848034	22848034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22848034G>A	ENST00000404138.1	+	16	3605	c.3094G>A	c.(3094-3096)Gta>Ata	p.V1032I	ZBTB40_ENST00000375647.4_Missense_Mutation_p.V1032I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V920I	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1032					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCACCCTGACGTATTTGCTGC	0.488000													28	45					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621170	144621170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621170C>T	ENST00000262577.5	-	2	398	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	123					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGATGACCACGTTCTGACCC	0.617000													33	50					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33535302	33535302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33535302G>A	ENST00000228567.3	-	5	1648	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	SYT10_ENST00000535526.1_Missense_Mutation_p.A270V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCCATGACCGCAATGGAGAG	0.448000													28	36					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209388	44209388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44209388G>A	ENST00000260665.7	-	2	392	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRPPRC_ENST00000409659.1_Missense_Mutation_p.T112I|LRPPRC_ENST00000409946.1_Missense_Mutation_p.T112I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	112					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGCGGCAGGTATCATTAAA	0.428000													30	38					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11303331	11303331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11303331T>C	ENST00000361445.4	-	9	1328	c.1252A>G	c.(1252-1254)Aac>Gac	p.N418D		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	418					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGGACATGGTTCATGGTATCT	0.478000													4	91					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76434492	76434492	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76434492G>A	ENST00000324439.5	-	2	503	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RCHY1_ENST00000513257.1_Silent_p.D35D|RCHY1_ENST00000512706.1_Silent_p.D13D|RCHY1_ENST00000451788.1_Silent_p.D35D|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000514021.1_5'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	35					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAAGCTTGTCACAGCAAG	0.373000													5	13					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62577807	62577807	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62577807G>A	ENST00000369908.5	-	2	557	c.259_splice	c.e2+1	p.I86_splice	UCKL1_ENST00000354216.6_Splice_Site_p.I101_splice|UCKL1_ENST00000358711.3_Splice_Site_p.I101_splice|UCKL1_ENST00000369892.3_Splice_Site_p.I101_splice|UCKL1_ENST00000492660.1_5'UTR	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	101					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTCACCGATGGCGAAGG	0.677000													5	10					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947819	35947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35947819G>A	ENST00000216127.4	+	3	1183	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	181					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACGTGGACGAGATGTTCTA	0.632000													15	12					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36716362	36716362	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36716362A>G	ENST00000216181.5	-	9	1145	c.915T>C	c.(913-915)aaT>aaC	p.N305N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	305	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGACGTGTCCATTGGACAGGA	0.577000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	92					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039266	11039266	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11039266C>T	ENST00000470054.1	-	0	937									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCAGTTGCTCTTGCTGCA	0.398000													14	276					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31750347	31750347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750347G>A	ENST00000375663.3	-	16	2391	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	651					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAATGCCACGGAACAGTCCC	0.632000													10	16					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36474597	36474597	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36474597C>A	ENST00000373191.4	+	8	1330	c.981C>A	c.(979-981)ccC>ccA	p.P327P	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.P93P	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CGCACCTTCCCTGTCTGCAAG	0.453000													12	24					4.36969e-10	5.35656e-10	1	1	0
POLE	5426	broad.mit.edu	37	12	133219468	133219468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219468G>A	ENST00000320574.5	-	36	4709	c.4666C>T	c.(4666-4668)Cgg>Tgg	p.R1556W	POLE_ENST00000535270.1_Missense_Mutation_p.R1529W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1556					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTCTGCCCGAACTTCGAAG	0.607000								DNA polymerases (catalytic subunits)					35	63					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203589718	203589718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203589718G>T	ENST00000303116.6	+	3	842	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	FAM117B_ENST00000392238.2_Missense_Mutation_p.D278Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	278	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGGCAGTACAGATCAACTTAA	0.423000													6	57					3.59834e-05	4.01776e-05	1	1	0
ZNF544	27300	broad.mit.edu	37	19	58773033	58773033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773033C>A	ENST00000269829.4	+	7	1535	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S326Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.S354Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S212Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000415203.2_Missense_Mutation_p.S326Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAGCCATCTGTGTGTAAT	0.473000													8	50					1.12685e-05	1.27857e-05	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60688784	60688784	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60688784C>A	ENST00000335712.6	-	4	1490	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	BCL11A_ENST00000356842.4_Missense_Mutation_p.K421N|BCL11A_ENST00000358510.4_Missense_Mutation_p.K387N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.K90N|BCL11A_ENST00000538214.1_Missense_Mutation_p.K387N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	421					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGTGGCGCTTCAGCTTGC	0.642000			T	IGH@	B-CLL								26	48					1.2476e-16	1.61147e-16	1	1	0
PRICKLE4	29964	broad.mit.edu	37	6	41751912	41751912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41751912A>G	ENST00000359201.5	+	3	765	c.176A>G	c.(175-177)aAc>aGc	p.N59S	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.N19S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	19	PET.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGACACCAACCAAGCCCCC	0.547000													9	16					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170204111	170204111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170204111T>C	ENST00000231706.4	-	5	1121	c.806A>G	c.(805-807)gAc>gGc	p.D269G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	269						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCGATGATGTCAAAGCCAAT	0.527000													17	32					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308174	176308174	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176308174C>T	ENST00000292432.5	-	19	2763	c.2672G>A	c.(2671-2673)cGc>cAc	p.R891H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	891	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCACACAGCGAGGGGCCAG	0.672000													4	22					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80196729	80196729	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80196729G>A	ENST00000392959.1	-	9	2697	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	LCA5_ENST00000369846.4_Silent_p.L696L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	696					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTCATCTCAGTGCTACTTCT	0.279000													5	35					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8178614	8178614	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8178614C>A	ENST00000402384.3	-	11	1285		c.e11+1		ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000396675.3_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATCTAGGTTACCTGAGCATGC	0.333000													5	108					0.014758	0.0152625	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17722350	17722350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17722350G>T	ENST00000355815.4	-	6	1304	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	SREBF1_ENST00000435530.2_Missense_Mutation_p.L349M|SREBF1_ENST00000338854.5_Missense_Mutation_p.L349M|SREBF1_ENST00000395757.1_Missense_Mutation_p.L95M|SREBF1_ENST00000261646.5_Missense_Mutation_p.L349M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	349	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCACCACCAGATCCTTGAGC	0.587000													9	74					3.09899e-07	3.63227e-07	1	1	0
NAA25	80018	broad.mit.edu	37	12	112518933	112518933	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112518933G>A	ENST00000261745.4	-	5	656	c.408C>T	c.(406-408)ggC>ggT	p.G136G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	136						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAGAGCCATGCCAGCCTAAA	0.373000													22	177					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87028381	87028381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87028381T>C	ENST00000395169.3	-	5	967	c.247A>G	c.(247-249)Aaa>Gaa	p.K83E	MAPK10_ENST00000395160.3_De_novo_Start_InFrame|MAPK10_ENST00000359221.3_Missense_Mutation_p.K121E|MAPK10_ENST00000395166.1_Missense_Mutation_p.K83E|MAPK10_ENST00000361569.2_Missense_Mutation_p.K121E|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_De_novo_Start_InFrame|MAPK10_ENST00000395157.3_De_novo_Start_InFrame|MAPK10_ENST00000395161.2_Missense_Mutation_p.K121E	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	121	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCACGTTTTTATGGTTCACA	0.418000													15	32					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720971	50720971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50720971G>A	ENST00000440075.2	+	3	552	c.505G>A	c.(505-507)Gag>Aag	p.E169K	MYH14_ENST00000596571.1_Missense_Mutation_p.E169K|MYH14_ENST00000425460.1_Missense_Mutation_p.E169K|MYH14_ENST00000262269.8_Missense_Mutation_p.E169K|MYH14_ENST00000376970.2_Missense_Mutation_p.E169K|MYH14_ENST00000598205.1_Missense_Mutation_p.E169K|MYH14_ENST00000601313.1_Missense_Mutation_p.E169K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	169	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCGCCACGAGGTGCCACC	0.612000													40	51					0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65275859	65275859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65275859C>T	ENST00000204566.2	-	2	344	c.49G>A	c.(49-51)Gtt>Att	p.V17I	SPG21_ENST00000560564.1_Intron|SPG21_ENST00000433215.2_Missense_Mutation_p.V17I|SPG21_ENST00000416889.2_Missense_Mutation_p.V17I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	17					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTAAGGGGAACTGTACCTCTA	0.333000													4	4					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921777	87921777	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921777G>T	ENST00000309893.2	-	7	941	c.876C>A	c.(874-876)gtC>gtA	p.V292V		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	292					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AGGACGCCCAGACCTTCCGGT	0.488000													5	59					0.000602214	0.000649039	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25230229	25230229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25230229G>A	ENST00000276440.7	+	35	3723	c.3679G>A	c.(3679-3681)Gtg>Atg	p.V1227M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1227	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACTGTGAACGTGCTGGTATG	0.557000													6	10					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338163	42338163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42338163C>A	ENST00000262418.6	-	5	344	c.189G>T	c.(187-189)gaG>gaT	p.E63D	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	63					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCACCAGCTCCTGCAGCT	0.617000													4	30					1	1	1	1	0
CAND1	55832	broad.mit.edu	37	12	67686508	67686508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67686508A>G	ENST00000545606.1	+	3	756	c.319A>G	c.(319-321)Agt>Ggt	p.S107G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	107					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGACATTTCAAGTATTGGTCT	0.368000													55	82					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17107602	17107602	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17107602C>A	ENST00000377833.4	-	22	3109	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1015	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTACCACTGCTTGTGAGAGA	0.413000													74	104					9.42754e-34	1.26687e-33	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356889	42356889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356889C>A	ENST00000554171.1	+	5	3493	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	LRFN5_ENST00000298119.4_Missense_Mutation_p.A354D|LRFN5_ENST00000554120.1_Missense_Mutation_p.A354D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	354	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATACAGGTGCTTTTACCTGC	0.383000										HNSCC(30;0.082)			30	61					2.61193e-14	3.33086e-14	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85449803	85449803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85449803G>T	ENST00000393217.2	+	8	1293	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	411										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAACATTTAAGTCTTGAAGAT	0.318000													33	63					9.17885e-22	1.20931e-21	1	1	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534953	5534953	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534953C>T	ENST00000397747.3	+	3	512	c.264C>T	c.(262-264)caC>caT	p.H88H	PDCD1LG2_ENST00000397745.2_Silent_p.H88H	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	88	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCTCGTTCCACATACCTCAAG	0.507000													6	33					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42153059	42153059	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42153059T>C	ENST00000269097.4	+	6	920	c.689T>C	c.(688-690)cTa>cCa	p.L230P		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	230					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCATCAGCCTAGCCTTCAAG	0.617000													6	107					0	0	1	0	0
RASA4CP	0	broad.mit.edu	37	7	44073779	44073779	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44073779C>A	ENST00000446874.1	-	0	333																											TCCCACCTGTCTTCTCTTTTT	0.622000													4	14					3.59834e-05	4.01776e-05	1	1	0
SMC3	9126	broad.mit.edu	37	10	112364052	112364052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112364052C>T	ENST00000361804.4	+	29	3772	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1216					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATACCACACATGGTTAATT	0.323000													23	61					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204585	9204585	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204585T>C	ENST00000429566.3	+	1	731	c.665T>C	c.(664-666)cTt>cCt	p.L222P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCGCATCCTTGTGGCCATC	0.567000													15	86					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290522	184290522	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184290522C>T	ENST00000330394.2	+	3	866	c.414C>T	c.(412-414)gaC>gaT	p.D138D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	138						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGAGGCTGACAGCGATGTGG	0.582000													12	25					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201828116	201828116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201828116C>A	ENST00000361565.4	+	13	1531	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	488					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGACCTCAACCTCTCAGGTAT	0.468000													7	39					8.12818e-05	8.99451e-05	1	1	0
GRIN2A	0	broad.mit.edu	37	16	9857312	9857312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9857312G>A	ENST00000396573.2	-	14	4398	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_ENST00000396575.2_Silent_p.S1363S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1363					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1363S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGGTTATCGGAGGTGTGGT	0.557000													24	38					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126342392	126342392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126342392G>A	ENST00000334379.5	+	12	1347	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACATCAAGGCGCTTGATCACA	0.398000													21	39					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71726695	71726695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726695C>A	ENST00000393695.3	-	15	2185	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E618D|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	618					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCAGAATCTCCAGCTTGG	0.622000			T	RARA	APL								4	33					0.00909568	0.00947522	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200948844	200948844	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200948844C>T	ENST00000332129.2	-	29	4257		c.e29-1		KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTTCGGTCTGTGAGAGAT	0.597000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	96					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24552111	24552111	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24552111G>T	ENST00000441463.2	+	11	1143	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	PDK3_ENST00000379162.4_Missense_Mutation_p.K381N	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	381					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCATTACAAGACCACGCCTG	0.418000													13	21					2.68362e-12	3.37045e-12	1	1	0
CAMKK1	84254	broad.mit.edu	37	17	3776741	3776741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3776741C>T	ENST00000381771.2	-	12	1273	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CAMKK1_ENST00000348335.2_Missense_Mutation_p.A338T|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A365T|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A376T			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	338	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGCCAGTGGCCCATACATCC	0.632000													36	61					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689982	79689982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:79689982T>C	ENST00000261205.4	+	7	1265	c.608T>C	c.(607-609)cTt>cCt	p.L203P	SYT1_ENST00000552744.1_Missense_Mutation_p.L203P|SYT1_ENST00000457153.2_Missense_Mutation_p.L200P|SYT1_ENST00000393240.3_Missense_Mutation_p.L203P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	203	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CGAAAAACCCTTAATCCTGTC	0.378000													3	68					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124561643	124561643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124561643T>C	ENST00000532692.1	+	3	1698	c.277T>C	c.(277-279)Tct>Cct	p.S93P	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.S93P			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	93					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTCAGATATCTGGGAAGGA	0.383000													4	63					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910781	55910781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55910781C>T	ENST00000388975.3	-	5	528	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	138					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAGATAGGCCTCAAATTGG	0.358000													7	12					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168939	142168939	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142168939A>G	ENST00000454561.2	-	0	106																											TCCTAATAGGAGGGGTATCCT	0.562000													7	5					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103341316	103341316	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103341316A>G	ENST00000520539.1	-	11	1933		c.e11+1		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGTTTCATACCTTGTTATT	0.323000													51	81					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319333	70319333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319333C>T	ENST00000338508.4	-	33	5193	c.5194G>A	c.(5194-5196)Gcc>Acc	p.A1732T	SHANK2_ENST00000423696.2_Missense_Mutation_p.A1352T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1136T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1135T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1352					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGAGAGGCGGTGGCAGCA	0.602000													35	56					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68855400	68855400	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68855400G>A	ENST00000294309.3	+	25	2339	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P564P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	746					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAGCACCCGCACCTGTGGC	0.642000													9	12					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37455300	37455300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37455300C>T	ENST00000264658.6	-	5	532	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FBXL20_ENST00000577399.1_Missense_Mutation_p.G93D|FBXL20_ENST00000394294.3_Missense_Mutation_p.G91D|FBXL20_ENST00000583610.1_Missense_Mutation_p.G91D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	91						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCGTAAAAAGCCCCCACATCG	0.373000													29	63					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107016646	107016646	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107016646T>C	ENST00000369701.3	+	25	3634	c.3407T>C	c.(3406-3408)gTt>gCt	p.V1136A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1136						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGTATTTGTTGGCCTGGCT	0.418000													12	21					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151664940	151664940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151664940C>A	ENST00000368843.3	+	9	1389	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G	SNX27_ENST00000458013.2_Silent_p.G423G|SNX27_ENST00000368838.1_Silent_p.G330G	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	423					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTGAGGGCTACAATGAAA	0.413000													5	32					1	1	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39924325	39924325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39924325T>C	ENST00000303538.8	-	6	1110	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	191					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAGAACTCATCAAATCTAGC	0.333000													7	19					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732659	37732659	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37732659C>A	ENST00000330843.4	-	3	1008	c.996G>T	c.(994-996)aaG>aaT	p.K332N	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K332N|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K184N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	332				EAK -> QPT (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATCTCACCCTTGGCTTCTG	0.517000													30	375					9.04072e-19	1.18089e-18	1	1	0
RCAN3	11123	broad.mit.edu	37	1	24840983	24840983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24840983G>A	ENST00000374395.4	+	2	434	c.121G>A	c.(121-123)Gat>Aat	p.D41N	RCAN3_ENST00000374393.2_Missense_Mutation_p.D41N|RCAN3_ENST00000538532.1_Missense_Mutation_p.D41N|RCAN3_ENST00000436717.2_Missense_Mutation_p.D41N|RCAN3_ENST00000412742.2_Missense_Mutation_p.D41N	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	41					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGAGATGATGGATTTAAGTGA	0.438000													4	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074008	9074008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9074008C>T	ENST00000397910.4	-	3	13641	c.13438G>A	c.(13438-13440)Gtt>Att	p.V4480I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4482	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCGCAGAAACAGGAGAGGAT	0.468000													10	76					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134881021	134881021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1585_splice	c.e7+1	p.D528_splice	EPHB1_ENST00000493838.1_Splice_Site_p.D89_splice	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562000													18	34					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607000													24	69					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266718	266718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266718C>T	ENST00000538872.1	+	7	2419	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	IQSEC3_ENST00000382841.2_Silent_p.P464P|IQSEC3_ENST00000326261.4_Silent_p.P767P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	767	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGTGCAACCCCGAAGTGGTTC	0.627000													21	36					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747524	68747524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68747524G>A	ENST00000309106.3	-	1	931	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACGGTGGGCGTCTCCCCACC	0.687000													29	54					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884569	110884569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110884569C>T	ENST00000369784.3	+	1	3442	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	RBM15_ENST00000487146.2_Missense_Mutation_p.R848C|RBM15_ENST00000602849.1_Missense_Mutation_p.R848C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	848	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAACTCGACGCATCAAAGT	0.532000			T	MKL1	acute megakaryocytic leukemia								11	98					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108285442	108285442	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108285442G>T	ENST00000295746.8	-	11	1393	c.1317C>A	c.(1315-1317)atC>atA	p.I439I	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Silent_p.I280I	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	439						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTTGTCAAGATTTTTGCAA	0.318000													4	82					0.000602214	0.000649039	1	1	0
GMPPB	29925	broad.mit.edu	37	3	49760894	49760894	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49760894G>A	ENST00000480687.1	-	3	257	c.141C>T	c.(139-141)gaC>gaT	p.D47D	GMPPB_ENST00000308388.6_Silent_p.D47D|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.D47D			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	47					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATCACGTGGTCCACGCCTG	0.627000													13	28					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391456	61391456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61391456A>G	ENST00000370501.3	+	4	1465	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	365						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCCTGTACAACCTCGTCTCT	0.587000													39	70					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68648055	68648055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68648055C>A	ENST00000380822.4	-	5	403	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.D115Y|TAF9_ENST00000512561.1_Missense_Mutation_p.D87Y	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	118						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATATTGTCTGTTAGTTTC	0.383000													4	46					1.23904e-05	1.39987e-05	1	1	0
LUC7L3	51747	broad.mit.edu	37	17	48821079	48821079	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48821079G>T	ENST00000505658.1	+	6	628	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	LUC7L3_ENST00000240304.1_Missense_Mutation_p.G147W|LUC7L3_ENST00000393227.2_Missense_Mutation_p.G147W|LUC7L3_ENST00000544170.1_Missense_Mutation_p.G71W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	147					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TGAAGAATTAGGGTCTGAAGG	0.378000													4	35					0.150653	0.152692	1	1	0
HSPA2	3306	broad.mit.edu	37	14	65008248	65008248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65008248C>T	ENST00000247207.6	+	1	1063	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA2_ENST00000394709.1_Silent_p.G227G|HSPA2_ENST00000554883.1_3'UTR	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	227					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACGGCCGGCGACACCCACC	0.602000													25	54					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669381	48669381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48669381C>T	ENST00000358747.6	-	5	869	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V228I|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R193H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V228I|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V228I	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCTGTGAGACGAAGACCTGC	0.582000													21	35					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95255669	95255669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95255669C>T	ENST00000295256.5	-	2	202	c.112G>A	c.(112-114)Gac>Aac	p.D38N	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	38	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCAGGCCAGTCAGCTTGTTCT	0.318000													24	38					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683315	50683315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50683315G>T	ENST00000008391.3	+	2	754	c.526G>T	c.(526-528)Gac>Tac	p.D176Y		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	176							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGAGCAGACGACTTGCA	0.602000													44	42					1.72184e-34	2.31481e-34	1	1	0
KRT80	144501	broad.mit.edu	37	12	52566080	52566080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52566080C>T	ENST00000313234.5	-	7	1177	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	KRT80_ENST00000394815.2_Silent_p.A360A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	360	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCAGCTGCCGCGCCATGTCCT	0.642000													15	40					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73889488	73889488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73889488C>T	ENST00000345330.4	-	2	511	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	NPTN_ENST00000542234.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R105Q|NPTN_ENST00000563691.1_Missense_Mutation_p.R105Q|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.R105Q|NPTN_ENST00000564551.1_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	105	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAAGGTGAGCCGGGTTATTCT	0.577000													11	29					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429126	135429126	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135429126C>T	ENST00000394143.1	+	6	3552	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	GPR112_ENST00000412101.1_Silent_p.T882T|GPR112_ENST00000370652.1_Silent_p.T1087T|GPR112_ENST00000287534.4_Silent_p.T1024T|GPR112_ENST00000394141.1_Silent_p.T882T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1087					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATTCGTACCACTTCAGAGG	0.468000													88	143					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44806225	44806225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44806225C>T	ENST00000398238.4	+	17	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_ENST00000225282.8_Silent_p.Y517Y|NSF_ENST00000575068.1_Silent_p.Y606Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	611					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.Y611Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318000													26	52					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53218122	53218122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53218122C>T	ENST00000330553.5	-	5	914	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	294	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTTAGACACGTGGGTCTGC	0.582000													4	34					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7849174	7849174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7849174C>T	ENST00000380262.3	+	13	2788	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CNTROB_ENST00000563694.1_Silent_p.D621D|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.D621D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	621	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGGGACGAGCTACCTG	0.607000													36	85					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71495549	71495549	+	Missense_Mutation	SNP	G	G	T	rs145093693	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71495549G>T	ENST00000521425.1	-	10	1679	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	TRAM1_ENST00000536748.1_Missense_Mutation_p.L270M|TRAM1_ENST00000262213.2_Missense_Mutation_p.L301M			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	301	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGGATGCCAGAACAGCGATT	0.343000													14	20					4.36969e-10	5.35656e-10	1	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135102452	135102452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135102452G>A	ENST00000368563.2	-	10	1789	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.T478M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T348M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T71M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T506M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	478					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTTTTAACGTGTAGATGAT	0.478000													16	40					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323299	2323299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323299G>A	ENST00000263092.5	-	10	1781	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R334C	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	552							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTTGGTTACGTATGTAGGTG	0.473000													5	65					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166323	21166323	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21166323A>G	ENST00000380225.1	-	1	336	c.289T>C	c.(289-291)Tct>Cct	p.S97P		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	97					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTAGCAGATGAGTCCTTT	0.498000													18	114					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830448	23830448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23830448G>T	ENST00000354639.3	+	22	3038	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q858H|STK31_ENST00000355870.3_Missense_Mutation_p.Q881H|STK31_ENST00000433467.2_Missense_Mutation_p.Q881H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	881	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCAGAGTCAGCGAGCCTCGG	0.378000													6	74					1.6384e-10	2.02096e-10	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89392808	89392808	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89392808C>T	ENST00000532352.1	+	0	631							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CGGTTGGAATCTTCCTGGAGG	0.512000													10	57					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395515	76395515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76395515C>T	ENST00000357063.3	+	15	3826	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	LMO7_ENST00000526202.1_Missense_Mutation_p.R421C|LMO7_ENST00000377534.3_Missense_Mutation_p.R856C|LMO7_ENST00000321797.8_Missense_Mutation_p.R571C|LMO7_ENST00000465261.2_Missense_Mutation_p.R571C|LMO7_ENST00000341547.4_Missense_Mutation_p.R522C			Q8WWI1	LMO7_HUMAN	LIM domain 7	856						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGAGGACCGTGTAACAAC	0.438000													17	61					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891939	167891939	+	Missense_Mutation	SNP	G	G	A	rs145892564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167891939G>A	ENST00000265293.4	+	21	3624	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	WWC1_ENST00000521089.1_Missense_Mutation_p.R1047H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1041	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCGTTTCCGCCTGCTGCTG	0.647000													16	23					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328962	44328962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44328962C>A	ENST00000216180.3	+	4	864	c.691C>A	c.(691-693)Ctc>Atc	p.L231I	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L227I|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	231					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCCCCGGATCTCAAGGTGAG	0.537000													23	44					4.87955e-14	6.21198e-14	1	1	0
CYTIP	9595	broad.mit.edu	37	2	158300428	158300428	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158300428C>T	ENST00000264192.3	-	1	226	c.105G>A	c.(103-105)acG>acA	p.T35T	CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	35					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TATCGTCCATCGTAAGGCTGC	0.507000													4	66					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180910420	180910420	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180910420C>T	ENST00000367588.4	+	7	3213	c.3159_splice	c.e7+1	p.P1053_splice	KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Splice_Site_p.P674_splice	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1053	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCTGCACCCGGTGAGTCCA	0.622000													6	31					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962266	151962266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151962266G>A	ENST00000355193.2	-	8	1259	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	KMT2C_ENST00000262189.6_Silent_p.C347C					lysine (K)-specific methyltransferase 2C																		CCGGGCTGTCGCACACTGCAC	0.378000													9	185					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52775247G>A	ENST00000257951.3	-	5	1041	c.975C>T	c.(973-975)agC>agT	p.S325S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557000													70	106					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5788144	5788144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5788144G>A	ENST00000309061.7	-	5	1082	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DUS3L_ENST00000320699.8_Missense_Mutation_p.A87V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	329					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGTCACATCCGCCCCGAAGCG	0.607000													14	23					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348632	150348632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150348632G>A	ENST00000218316.3	+	2	646	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	193					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.V193I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTACCATCGTCTGCATCCA	0.547000													5	140					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	G	A	rs149521975	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166831722G>A	ENST00000510118.1	-	21	2344	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000265678.4_Silent_p.D643D|RPS6KA2_ENST00000503859.1_Silent_p.D651D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473000													8	80					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418000													15	35					3.27435e-08	3.90559e-08	1	1	0
UNC79	57578	broad.mit.edu	37	14	94121730	94121730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94121730C>T	ENST00000553484.1	+	40	6770	c.6616C>T	c.(6616-6618)Ctg>Ttg	p.L2206L	UNC79_ENST00000393151.2_Silent_p.L2184L|UNC79_ENST00000555664.1_Silent_p.L2145L|UNC79_ENST00000256339.4_Silent_p.L2007L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2184						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGCCAAGCTGCCTTGTGT	0.403000													7	123					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116457747	116457747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116457747G>A	ENST00000281928.3	-	6	862	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	219					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCTGTTAGCGTCCCATTTAA	0.408000													11	44					0	0	1	0	0
RPS10P7	0	broad.mit.edu	37	1	201489572	201489572	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201489572C>A	ENST00000441932.1	+	0	1742				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAACGGAGTGCTGTGCCCCCT	0.572000													12	15					4.36969e-10	5.35656e-10	1	1	0
ARG2	384	broad.mit.edu	37	14	68112518	68112518	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68112518A>C	ENST00000261783.3	+	4	701	c.522_splice	c.e4+1	p.K174_splice	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	174					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTACAGGATAAGGTCAGTGGG	0.468000													13	14					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748770	178748770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178748770C>A	ENST00000311417.2	-	3	1029	c.288G>T	c.(286-288)aaG>aaT	p.K96N	ZMAT3_ENST00000432729.1_Missense_Mutation_p.K96N	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	96					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGGAGTTTCTTACCATGAT	0.438000													22	36					9.04412e-07	1.0505e-06	1	1	0
UBR5	51366	broad.mit.edu	37	8	103327066	103327066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103327066C>A	ENST00000520539.1	-	15	2406	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	UBR5_ENST00000220959.4_Missense_Mutation_p.Q600H|UBR5_ENST00000521922.1_Missense_Mutation_p.Q594H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	600					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCACTGGCTCCTGCTTACTTT	0.373000													16	15					9.16793e-09	1.10245e-08	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72332189	72332189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72332189C>T	ENST00000340595.3	+	10	1590	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	SLC4A4_ENST00000425175.1_Missense_Mutation_p.A509V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A509V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A465V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.A509V|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	509						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGGGCACTGCTGTCTCTGGA	0.408000													14	197					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128441482	128441482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128441482G>A	ENST00000297788.4	+	4	956	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	CCDC136_ENST00000464832.1_Missense_Mutation_p.A247T|CCDC136_ENST00000378685.4_Missense_Mutation_p.A247T|CCDC136_ENST00000487361.1_Missense_Mutation_p.A197T	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	197	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGGAGATCGCCTCCCTCCG	0.488000													12	14					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070634	129070634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129070634A>G	ENST00000274487.4	+	22	3449	c.3304A>G	c.(3304-3306)Acc>Gcc	p.T1102A	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1102	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTCAATTACCTGTGGCAA	0.358000													31	31					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21930309	21930309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21930309C>T	ENST00000374763.2	-	16	1533	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374765.4_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000374761.2_Intron			P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	515					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCAGAGCCGGCGGCCCCGCGG	0.647000													6	14					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158793	102158793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158793G>A	ENST00000299314.7	-	13	2164	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	634					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCCCTTGTGTCCACCTCCA	0.408000													45	67					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116253	129116253	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116253C>T	ENST00000514355.1	-	0	412																				lung(1)	1						TCAAAACTGACCCCAAGACAC	0.532000													33	58					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33633685	33633685	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33633685G>T	ENST00000374316.5	+	15	2543	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y	ITPR3_ENST00000605930.1_Missense_Mutation_p.D495Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	495					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAATGTCCTGGACATCATGGT	0.577000													3	21					0.004672	0.0049138	1	1	0
DMC1	11144	broad.mit.edu	37	22	38963608	38963608	+	Missense_Mutation	SNP	G	G	T	rs139861590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38963608G>T	ENST00000216024.2	-	3	352	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DMC1_ENST00000428462.2_Missense_Mutation_p.L26M	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	26					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTCTGTAACAGGTCAATATCT	0.333000								Homologous recombination					19	28					2.54575e-18	3.31776e-18	1	1	0
CD1B	910	broad.mit.edu	37	1	158298712	158298712	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158298712G>A	ENST00000368168.3	-	5	1086	c.980_splice	c.e5+1	p.R327_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAACTCACCGGCGCCTCATA	0.383000													10	31					0	0	1	0	0
LRRC19	64922	broad.mit.edu	37	9	26995813	26995813	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26995813A>G	ENST00000380055.5	-	5	929	c.819T>C	c.(817-819)ctT>ctC	p.L273L	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	273						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CAACACCAACAAGAAAAGCCC	0.333000													3	47					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943316	200943316	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200943316G>A	ENST00000332129.2	-	34	5098	c.4782C>T	c.(4780-4782)tgC>tgT	p.C1594C	KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron|KIF21B_ENST00000422435.2_Silent_p.C1607C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1607					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTTACCCGGCAGTCACTGT	0.612000													7	42					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100983342	100983342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100983342G>A	ENST00000375066.5	-	6	1238	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TBC1D2_ENST00000375064.1_Missense_Mutation_p.R383W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R165W|TBC1D2_ENST00000493589.2_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	383	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCTCTCCCGCTCCTGCTCC	0.687000													5	10					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405101	10405101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10405101C>T	ENST00000221980.4	+	9	2078	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GATGAATCTACCTGCCCAAGT	0.692000													18	28					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627447	148627447	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148627447C>T	ENST00000506113.1	+	17	2136	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R441W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R441W|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R38W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R552W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R519W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R457W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	552					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCAGCCGGGAAGCCCT	0.597000													12	20					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149826712	149826712	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149826712A>T	ENST00000253329.2	-	13	1388	c.1356T>A	c.(1354-1356)caT>caA	p.H452Q	PPIL4_ENST00000340881.2_Missense_Mutation_p.I85N	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	452					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TATTACTATAATGGCCATCCC	0.393000													33	66					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775897	95775897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775897G>A	ENST00000416240.2	-	14	1616	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R475W|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R367W	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	475					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCAGGTCCCGCACGACAGAC	0.403000													15	213					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39730138	39730138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:39730138G>A	ENST00000005257.2	+	3	652	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	91					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GGGTTCCTCTGTGTTTTCTCT	0.443000													5	74					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416742	30416742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416742C>T	ENST00000333027.3	+	17	3422	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	MTMR3_ENST00000323630.5_Missense_Mutation_p.R896C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1032C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.R1032C|MTMR3_ENST00000401950.2_Missense_Mutation_p.R1032C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1032					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCGCCTGCGTCAGATTGA	0.572000													13	18					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173316959	173316959	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173316959T>G	ENST00000265085.5	+	1	1677	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CPEB4_ENST00000520867.1_Missense_Mutation_p.L75V|CPEB4_ENST00000334035.5_Missense_Mutation_p.L75V|CPEB4_ENST00000519835.1_Missense_Mutation_p.L75V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	75							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGAGATCTTGGGGTCAGA	0.478000													16	142					0	0	1	0	0
CXCR2P1	0	broad.mit.edu	37	2	218925058	218925058	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218925058G>T	ENST00000439871.1	-	0	1322					NR_002712.1																						TTAGGCAAGAGGTCTTAGAGA	0.532000													20	50					1.55795e-14	1.98882e-14	1	1	0
F5	2153	broad.mit.edu	37	1	169512306	169512306	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169512306C>A	ENST00000367796.3	-	13	2238	c.2037G>T	c.(2035-2037)aaG>aaT	p.K679N	F5_ENST00000367797.3_Missense_Mutation_p.K674N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	674	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGCCTCAGCTTTTTGCTTC	0.408000													51	59					1.86277e-20	2.44568e-20	1	1	0
CBR4	84869	broad.mit.edu	37	4	169923300	169923300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169923300C>A	ENST00000306193.3	-	4	625	c.457G>T	c.(457-459)Gga>Tga	p.G153*	CBR4_ENST00000504480.1_Nonsense_Mutation_p.G153*|CBR4_ENST00000509108.1_5'UTR	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	153					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACTAATCCTCCTTTACTGGCA	0.343000													4	37					0.014758	0.0152625	1	1	0
OR6A2	8590	broad.mit.edu	37	11	6816879	6816879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6816879G>A	ENST00000332601.3	-	1	249	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493000													22	35					0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32526473	32526473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32526473G>A	ENST00000238831.3	+	5	752	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	169						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAGTCCTTGGAGTTATAGGA	0.308000													40	58					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49751542	49751542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49751542G>A	ENST00000327697.6	+	31	3089	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	RNF123_ENST00000433785.1_Missense_Mutation_p.R94H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	982						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCGGGTACCGCTATACACGG	0.617000													28	33					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698541	66698541	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66698541C>T	ENST00000247815.4	+	2	277	c.218C>T	c.(217-219)aCa>aTa	p.T73I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	73					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACACAAGAGACATGTAAAGTG	0.368000													4	93					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55026892	55026892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55026892C>T	ENST00000374987.3	+	1	103	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	13					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CAATGGGATTCGGAGACCCCT	0.602000								Other BER factors					4	6					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264250	139264250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139264250G>A	ENST00000371732.5	-	7	1194	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CARD9_ENST00000371734.3_Silent_p.I343I|CARD9_ENST00000315908.7_Silent_p.I343I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	343					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGATGGCCTCGATGCGGTCCT	0.637000													4	13					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349520	31349520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31349520C>T	ENST00000336798.7	-	1	2067	c.575G>A	c.(574-576)aGc>aAc	p.S192N	SDC3_ENST00000339394.6_Missense_Mutation_p.S250N			O75056	SDC3_HUMAN	syndecan 3	250	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCTGTGCTGACCAGCCT	0.711000													7	9					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25057802	25057802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25057802C>T	ENST00000260600.5	-	9	2517	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D189N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGTTGTCGGCCTGTGAG	0.617000													9	8					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67340464	67340464	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67340464G>A	ENST00000371026.3	-	5	855	c.800_splice	c.e5+1	p.T267_splice	WDR78_ENST00000371023.3_Splice_Site_p.T267_splice|WDR78_ENST00000371022.3_Splice_Site_p.T267_splice|WDR78_ENST00000431318.1_Splice_Site_p.T13_splice	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	267										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATACATACGTTACTTTCTC	0.403000													32	71					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368545	145368545	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368545T>C	ENST00000342960.5	+	84	10558	c.10523T>C	c.(10522-10524)tTc>tCc	p.F3508S	NBPF10_ENST00000369339.2_Missense_Mutation_p.F626S|NBPF10_ENST00000369338.1_Missense_Mutation_p.F624S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3508										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGACTCATTCCAGCACTAC	0.448000													29	542					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53542952	53542952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542952G>A	ENST00000371500.3	+	8	1100	c.759G>A	c.(757-759)ctG>ctA	p.L253L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Silent_p.L272L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	224					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCATCCTGTCCAGCAACT	0.632000													6	123					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27020846	27020846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27020846C>T	ENST00000314616.6	+	28	4049	c.3766C>T	c.(3766-3768)Cga>Tga	p.R1256*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1256*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCAGAAGAACGAGTGAAGGT	0.512000													16	25					0	0	1	0	0
CBR3	874	broad.mit.edu	37	21	37510183	37510183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37510183C>T	ENST00000290354.5	+	2	631	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	117						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						AATTTTTTTGCCACTAGAAAC	0.403000													40	66					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103431043	103431043	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103431043C>A	ENST00000358392.2	-	38	3269	c.2952_splice	c.e38+1	p.Q984_splice	COL11A1_ENST00000512756.1_Splice_Site_p.Q856_splice|COL11A1_ENST00000370096.3_Splice_Site_p.Q972_splice|COL11A1_ENST00000353414.4_Splice_Site_p.Q933_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	972	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAACATACCTGTGGTCCAA	0.378000													16	264					2.23348e-06	2.57349e-06	1	1	0
MROH9	80133	broad.mit.edu	37	1	170964535	170964535	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170964535C>T	ENST00000367759.4	+	13	1354	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	MROH9_ENST00000367758.3_Silent_p.C400C	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TATAGGCATGCCAGGCCCTGT	0.493000													9	99					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21104213	21104213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21104213C>T	ENST00000255882.6	-	28	3309	c.3223G>A	c.(3223-3225)Gtc>Atc	p.V1075I	PI4KA_ENST00000572273.1_Missense_Mutation_p.V1017I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1017					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACTTGGTGACGGTAGGTGCC	0.498000													11	20					0	0	1	0	0
PMS1	0	broad.mit.edu	37	2	190719533	190719533	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190719533T>C	ENST00000441310.2	+	9	1768	c.1535T>C	c.(1534-1536)aTt>aCt	p.I512T	PMS1_ENST00000432292.3_Missense_Mutation_p.I336T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.I336T|PMS1_ENST00000409823.3_Missense_Mutation_p.I473T|PMS1_ENST00000447232.2_Missense_Mutation_p.I512T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	512					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAGAATATTGAACCTGTG	0.343000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					9	56					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281612	38281612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38281612C>A	ENST00000553443.1	+	25	4663	c.4663C>A	c.(4663-4665)Cta>Ata	p.L1555I	TTC6_ENST00000267368.7_Missense_Mutation_p.L189I|TTC6_ENST00000382320.3_Missense_Mutation_p.L269I|TTC6_ENST00000476979.1_Missense_Mutation_p.L189I					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CTACGTAGAACTAGGCCAGTA	0.378000													10	78					2.17888e-05	2.45068e-05	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42224502	42224502	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42224502A>T	ENST00000541110.1	-	12	3172	c.2604T>A	c.(2602-2604)gcT>gcA	p.A868A	TRERF1_ENST00000372917.4_Silent_p.A765A|TRERF1_ENST00000372922.4_Silent_p.A848A|TRERF1_ENST00000340840.2_Silent_p.A765A|TRERF1_ENST00000354325.2_Silent_p.A765A			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	848	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGAGTGCAAAGCAAATTCAG	0.418000													6	38					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026572	176026572	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176026572T>C	ENST00000303991.4	-	2	441	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	88						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCTCCCTCTGGGGCCGT	0.657000													5	55					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789215	92789215	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92789215C>T	ENST00000370343.3	+	8	847	c.738C>T	c.(736-738)agC>agT	p.S246S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	246						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCAAAAAAGCATAATGAAAA	0.393000													8	91					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477678	35477678	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35477678G>T	ENST00000229771.6	-	6	606	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	TULP1_ENST00000322263.4_Missense_Mutation_p.P123Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	176					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567000													8	110					0.000157383	0.00017284	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108382390	108382390	+	Missense_Mutation	SNP	G	G	T	rs146263472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108382390G>T	ENST00000265843.4	-	6	3954	c.3844C>A	c.(3844-3846)Cct>Act	p.P1282T	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1206T|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1275T|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1094T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1282					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTTGAGGTGATTCTATA	0.358000													18	56					3.52763e-06	4.04633e-06	1	1	0
FBXO5	26271	broad.mit.edu	37	6	153292398	153292398	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:153292398G>T	ENST00000367241.3	-	5	1486	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	FBXO5_ENST00000229758.3_Missense_Mutation_p.T415N|FBXO5_ENST00000477822.1_5'UTR	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	415					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTCTTTAGTAGTATGATAATT	0.388000													21	40					7.87624e-14	1.00187e-13	1	1	0
NOS1AP	9722	broad.mit.edu	37	1	162337149	162337149	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162337149C>T	ENST00000493151.1	+	2	2895	c.528C>T	c.(526-528)gaC>gaT	p.D176D	NOS1AP_ENST00000530878.1_Silent_p.D466D|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000361897.5_Silent_p.D471D|RP11-565P22.6_ENST00000431696.1_Intron	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	471	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAACACGGACGAGAGCGAGG	0.667000													4	7					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32040067	32040067	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32040067G>T	ENST00000375244.3	-	13	4891	c.4690C>A	c.(4690-4692)Cca>Aca	p.P1564T	TNXB_ENST00000375247.2_Missense_Mutation_p.P1564T			P22105	TENX_HUMAN	tenascin XB	1649	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGGTGGGAGGGGAGCT	0.607000													5	22					1.23904e-05	1.39987e-05	1	1	0
RIOK2	55781	broad.mit.edu	37	5	96512896	96512896	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96512896T>A	ENST00000283109.3	-	4	490	c.422A>T	c.(421-423)tAt>tTt	p.Y141F	RIOK2_ENST00000508447.1_Missense_Mutation_p.Y141F|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	141							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATGTTTATGATAATCGCGTTT	0.333000													4	92					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65472481	65472481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472481C>T	ENST00000300107.3	-	2	329	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	47					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTGCAGAATCTGAGTTTCAA	0.383000													26	60					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475552	17475552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475552C>T	ENST00000377873.3	-	8	1204	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	BFSP1_ENST00000544874.1_Missense_Mutation_p.A250T|BFSP1_ENST00000536626.1_Missense_Mutation_p.A250T|BFSP1_ENST00000377868.2_Missense_Mutation_p.A264T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	389	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTAATGGTGCATCTTCCAGA	0.393000													58	97					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792411	35792411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35792411G>A	ENST00000342694.2	+	1	261	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	2					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCCATGGCGCTGCCATCAC	0.687000													9	11					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607000													6	8					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150972252	150972252	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150972252C>A	ENST00000392811.2	-	0	461				SMARCD3_ENST00000356800.2_De_novo_Start_InFrame	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGTCCTGCACCTGGA	0.652000													4	19					0.150653	0.152692	1	1	0
ENOSF1	55556	broad.mit.edu	37	18	691268	691268	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691268C>T	ENST00000383578.3	-	5	390	c.186G>A	c.(184-186)agG>agA	p.R62R	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Silent_p.R165R|ENOSF1_ENST00000251101.7_Silent_p.R144R|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	144					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATACCAGCATCCTGGGATCCT	0.428000													11	31					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160028716	160028716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160028716C>A	ENST00000263635.6	+	11	1673	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	TANC1_ENST00000454300.1_Missense_Mutation_p.P373H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	479						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTAAAACACCTCTTGGGTCT	0.463000													5	47					0.000602214	0.000649039	1	1	0
CCDC82	79780	broad.mit.edu	37	11	96098203	96098203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96098203C>T	ENST00000278520.5	-	7	1749	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	CCDC82_ENST00000542662.1_Missense_Mutation_p.G441R|CCDC82_ENST00000423339.2_Missense_Mutation_p.G441R			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	441							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TACAACTCTCCTGATAAATGC	0.333000													8	60					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41043672	41043672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41043672C>A	ENST00000324545.7	+	23	3935	c.3302C>A	c.(3301-3303)cCt>cAt	p.P1101H	USP9X_ENST00000378308.2_Missense_Mutation_p.P1101H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1101					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTTAATGCCTGCTGGTGCA	0.393000													4	101					0.150653	0.152692	1	1	0
ADORA1	134	broad.mit.edu	37	1	203098113	203098113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203098113C>T	ENST00000367236.4	+	2	1065	c.144C>T	c.(142-144)atC>atT	p.I48I	ADORA1_ENST00000337894.4_Silent_p.I48I|ADORA1_ENST00000367235.1_Silent_p.I48I|ADORA1_ENST00000309502.3_Silent_p.I48I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	48					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTGCTTCATCGTGTCGCTGG	0.632000													64	57					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529585	115529585	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115529585A>G	ENST00000361048.1	+	7	805	c.478A>G	c.(478-480)Agc>Ggc	p.S160G	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S154G|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S72G	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CTTCTACTCCAGCCCTCTCCT	0.493000													11	97					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699861	153699861	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153699861C>A	ENST00000369682.3	+	32	5575	c.5400C>A	c.(5398-5400)tcC>tcA	p.S1800S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1800					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGCATCCATCAGCGACC	0.552000													8	90					0.335167	0.336617	1	1	0
GPR98	84059	broad.mit.edu	37	5	90021442	90021442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90021442C>T	ENST00000405460.2	+	48	10226	c.10130C>T	c.(10129-10131)gCa>gTa	p.A3377V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3377					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAATCATTGCAAGTCAAAGA	0.303000													7	83					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22326279	22326279	+	Silent	SNP	G	G	A	rs41283235	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22326279G>A	ENST00000398793.2	-	5	788	c.354C>T	c.(352-354)tgC>tgT	p.C118C	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Silent_p.C118C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	118	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCTCCTTGTCGCAGTCCAGCC	0.587000													9	22					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82936072	82936072	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82936072A>C	ENST00000260047.6	+	6	1554	c.759A>C	c.(757-759)gaA>gaC	p.E253D	ANKRD42_ENST00000531895.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000533342.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000393392.2_Missense_Mutation_p.E226D			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	226										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTGAGTATGAAGGAAAAGACC	0.333000													14	44					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17313002	17313002	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17313002C>A	ENST00000595618.1	+	28	4878	c.4726C>A	c.(4726-4728)Ctg>Atg	p.L1576M	MYO9B_ENST00000397274.2_Missense_Mutation_p.L1576M|MYO9B_ENST00000594824.1_Missense_Mutation_p.L1576M	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1576	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGTCAGCAACCTGGCCACTGA	0.567000													7	13					5.18039e-06	5.91835e-06	1	1	0
MED7	9443	broad.mit.edu	37	5	156565837	156565837	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156565837T>C	ENST00000286317.5	-	2	987	c.606A>G	c.(604-606)gaA>gaG	p.E202E	MED7_ENST00000420343.1_Silent_p.E202E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	202					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTTGATGTTCATTCTGTC	0.383000													21	140					0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247263863	247263863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247263863C>T	ENST00000343381.6	-	4	1380	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.S317N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTGAAGGGAACTGAGGCGACT	0.438000													55	104					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405668	33405668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33405668G>A	ENST00000418600.2	+	8	1087	c.986G>A	c.(985-987)cGt>cAt	p.R329H	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCTGTACCGTGACTCAGAC	0.622000													23	27					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110086280	110086280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110086280G>T	ENST00000358015.3	+	8	1278	c.927G>T	c.(925-927)gaG>gaT	p.E309D	RAD23B_ENST00000416373.2_Missense_Mutation_p.E237D	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	309	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTCGAGAGAATCCTCAAT	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)					6	81					0.00307968	0.00325696	1	1	0
CLCNKB	1188	broad.mit.edu	37	1	16374411	16374411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374411C>A	ENST00000375679.4	+	5	481	c.370C>A	c.(370-372)Ccg>Acg	p.P124T		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGAATCCCGGAGGTGAA	0.547000													7	52					0.00307968	0.00325696	1	1	0
NEMF	9147	broad.mit.edu	37	14	50251694	50251694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50251694C>T	ENST00000298310.5	-	32	3551	c.3102G>A	c.(3100-3102)atG>atA	p.M1034I	NEMF_ENST00000382135.2_Missense_Mutation_p.M234I|NEMF_ENST00000545773.1_Missense_Mutation_p.M992I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.M1013I			O60524	NEMF_HUMAN	nuclear export mediator factor	1034						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTGGAATGCATGAAACTAT	0.333000													32	71					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743862	179743862	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179743862C>A	ENST00000253778.8	-	12	1224		c.e12-1		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCAGGAGCACTGCAGGGCAC	0.587000													5	37					0.000602214	0.000649039	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38879306	38879306	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38879306A>C	ENST00000359357.3	+	64	9406	c.9152A>C	c.(9151-9153)aAc>aCc	p.N3051T	DNAH8_ENST00000441566.1_Missense_Mutation_p.N3015T|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3268T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTATAAAAACATTTATGCT	0.358000													4	57					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41223437	41223437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223437A>C	ENST00000263370.2	+	1	430	c.397A>C	c.(397-399)Acg>Ccg	p.T133P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	133						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCTGGAGACGACTTGTCT	0.607000													4	61					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153244280	153244280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153244280G>T	ENST00000281708.4	-	12	3106	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	FBXW7_ENST00000603841.1_Missense_Mutation_p.A626D|FBXW7_ENST00000296555.5_Missense_Mutation_p.A508D|FBXW7_ENST00000393956.3_Missense_Mutation_p.A450D|FBXW7_ENST00000263981.5_Missense_Mutation_p.A546D|FBXW7_ENST00000603548.1_Missense_Mutation_p.A626D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	626					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAGGTCACAGCACTCTGATG	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								10	33					4.68919e-08	5.58064e-08	1	1	0
LCP1	3936	broad.mit.edu	37	13	46730704	46730704	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46730704C>A	ENST00000398576.2	-	8	748	c.358_splice	c.e8-1	p.E120_splice	LCP1_ENST00000323076.2_Splice_Site_p.E120_splice			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	120	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTTTTCTTCCTCTGCAAGTA	0.373000			T	BCL6	NHL								11	136					5.50884e-06	6.28354e-06	1	1	0
PLA1A	51365	broad.mit.edu	37	3	119328400	119328400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119328400G>T	ENST00000273371.4	+	4	611	c.539G>T	c.(538-540)gGa>gTa	p.G180V	PLA1A_ENST00000488919.1_Missense_Mutation_p.G7V|PLA1A_ENST00000494440.1_Missense_Mutation_p.G164V|PLA1A_ENST00000495992.1_Missense_Mutation_p.G164V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	180					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTCTTCGGAGGCCAGCTG	0.532000													15	89					1.15088e-07	1.35723e-07	1	1	0
SYNPR	132204	broad.mit.edu	37	3	63466615	63466615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466615G>A	ENST00000478300.1	+	3	603	c.192G>A	c.(190-192)gcG>gcA	p.A64A	SYNPR_ENST00000465156.1_Silent_p.A44A|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000479198.1_Silent_p.A44A|SYNPR_ENST00000295894.5_Silent_p.A44A|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A55A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	44	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGACATAGCGTTTGCCTACC	0.478000													51	69					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269149	1269149	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1269149C>T	ENST00000447027.1	+	31	11106	c.11048C>T	c.(11047-11049)aCg>aTg	p.T3683M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3680M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3680	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.607000													46	94					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986696	165986696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986696G>A	ENST00000360093.3	-	17	3167	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	SCN3A_ENST00000409101.3_Silent_p.I843I|SCN3A_ENST00000283254.7_Silent_p.I892I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	892						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAATGAAGACGATGATGGCCA	0.468000													62	70					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776463	4776463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4776463C>T	ENST00000379400.3	-	5	480	c.285G>A	c.(283-285)caG>caA	p.Q95Q	RASSF2_ENST00000379376.2_Silent_p.Q95Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	95					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCACTCACCCCTGAGCCCCCA	0.592000													38	63					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130331475	130331475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130331475A>G	ENST00000299164.2	+	2	1049	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCATTGAGGACGATGGGCTT	0.607000													31	38					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78610358T>C	ENST00000396137.4	+	9	2805	c.2343T>C	c.(2341-2343)ccT>ccC	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468000													9	127					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171417543	171417543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171417543G>A	ENST00000356327.5	-	12	1289	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R407*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R407*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	407					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCTTTTCGTTTAAGAATG	0.383000													151	208					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	30954259	30954259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30954259A>C	ENST00000375687.4	+	2	554	c.130A>C	c.(130-132)Aag>Cag	p.K44Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.K40Q|ASXL1_ENST00000542461.1_Missense_Mutation_p.K44Q|ASXL1_ENST00000375689.1_Missense_Mutation_p.K40Q|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	44					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAAGGACTAAAGGAAATGAG	0.373000			"""F, N, Mis"""		"""MDS, CMML"""								38	62					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109889431	109889431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109889431C>T	ENST00000228495.6	-	7	1192	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KCTD10_ENST00000540411.1_Missense_Mutation_p.R278H|KCTD10_ENST00000540089.1_Missense_Mutation_p.R123H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R123H|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	304					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTCATCAGGGCGCTTGATGTG	0.706000													12	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500811	179500811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500811G>A	ENST00000589042.1	-	226	41711	c.41487C>T	c.(41485-41487)ggC>ggT	p.G13829G	TTN_ENST00000460472.2_Silent_p.G4764G|TTN_ENST00000342992.6_Silent_p.G11261G|TTN_ENST00000359218.5_Silent_p.G4889G|TTN_ENST00000342175.6_Silent_p.G4956G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G12188G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGACGCCTGGCACAA	0.507000													22	49					0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170827849	170827849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170827849C>T	ENST00000296930.5	+	8	890	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NPM1_ENST00000517671.1_Nonsense_Mutation_p.R197*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.R197*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	197					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTCTATACGAGATACTCC	0.398000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								7	31					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210588343	210588343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210588343G>A	ENST00000199940.6	+	12	1641	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGAAGATCGATTTTAGCAA	0.413000													6	42					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262378	45262378	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:45262378G>A	ENST00000303230.4	-	8	2375	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	773						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTTGTGAAGCGCCTGCGTGCT	0.637000													15	29					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651789	196651789	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196651789T>G	ENST00000312428.6	-	58	10923	c.10823A>C	c.(10822-10824)gAg>gCg	p.E3608A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E91A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3608	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGATCTGTCTCATTGAACTC	0.403000													46	68					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795164	71795164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795164G>T	ENST00000258104.3	+	25	2872	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	DYSF_ENST00000413539.2_Missense_Mutation_p.K896N|DYSF_ENST00000409744.1_Missense_Mutation_p.K852N|DYSF_ENST00000410020.3_Missense_Mutation_p.K883N|DYSF_ENST00000409582.3_Missense_Mutation_p.K882N|DYSF_ENST00000410041.1_Missense_Mutation_p.K883N|DYSF_ENST00000394120.2_Missense_Mutation_p.K866N|DYSF_ENST00000409762.1_Missense_Mutation_p.K882N|DYSF_ENST00000409651.1_Missense_Mutation_p.K897N|DYSF_ENST00000409366.1_Missense_Mutation_p.K866N|DYSF_ENST00000429174.2_Missense_Mutation_p.K865N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	865						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGATGAGAAGGAGTTCAACC	0.582000													7	75					0.00307968	0.00325696	1	1	0
MYH15	22989	broad.mit.edu	37	3	108181966	108181966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108181966G>T	ENST00000273353.3	-	17	1972	c.1916C>A	c.(1915-1917)aCt>aAt	p.T639N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	639	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTCAGTACTCATGTA	0.418000													41	93					1.00001e-27	1.33502e-27	1	1	0
SETX	23064	broad.mit.edu	37	9	135163640	135163640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135163640C>A	ENST00000372169.2	-	17	6489	c.6307G>T	c.(6307-6309)Ggt>Tgt	p.G2103C	SETX_ENST00000224140.5_Missense_Mutation_p.G2103C|SETX_ENST00000393220.1_Missense_Mutation_p.G2103C			Q7Z333	SETX_HUMAN	senataxin	2103					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCCGTCCACCTCGGCATAGA	0.403000													4	25					0.00909568	0.00947522	1	1	0
WDR65	149465	broad.mit.edu	37	1	43675487	43675487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43675487T>C	ENST00000372492.4	+	11	2153	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S	WDR65_ENST00000528956.1_Missense_Mutation_p.F610S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCATGATGTTTGTGGGCACC	0.537000													4	60					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421574	39421574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421574G>A	ENST00000216099.7	+	4	910	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C168Y	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	168					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTTGCATACTGCTGGGAAAAC	0.527000													12	165					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418794	2418794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2418794G>A	ENST00000449969.1	+	7	1173	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	PLCH2_ENST00000378486.3_Missense_Mutation_p.A365T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.A365T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A365T|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	365	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTCCTGCAGGCTGGCTGCCG	0.647000													4	7					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703903	66703903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66703903G>A	ENST00000247815.4	+	4	1254	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413000													74	104					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570286	30570286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30570286C>T	ENST00000376511.2	-	19	2692	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	714	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggTTCGTTTCCTCCT	0.682000													5	14					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48608556	48608556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48608556G>T	ENST00000328333.8	-	93	7249	c.7142C>A	c.(7141-7143)cCt>cAt	p.P2381H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2381	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCAGGAGGCCCAGGGGA	0.632000													16	51					1.15088e-07	1.35723e-07	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70463819	70463819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70463819G>A	ENST00000373998.1	-	21	3953	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1098C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R1098C(1)|p.R1098fs*22(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478000													8	21					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307635	54307635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54307635T>C	ENST00000545554.1	+	1	2535	c.2535T>C	c.(2533-2535)agT>agC	p.S845S	UNC13C_ENST00000260323.11_Silent_p.S845S|UNC13C_ENST00000537900.1_Silent_p.S845S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	845					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGTCAAGTACCACACTTG	0.428000													22	29					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17113777	17113777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17113777C>T	ENST00000265970.7	-	28	4497	c.4498G>A	c.(4498-4500)Gca>Aca	p.A1500T	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1120T|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1500	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTTTTGGCTGCTACATCTTTT	0.323000													19	24					0	0	1	0	0
GPR6	0	broad.mit.edu	37	6	110301030	110301030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110301030G>A	ENST00000414000.2	+	3	999	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	GPR6_ENST00000275169.3_Missense_Mutation_p.G239S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	239						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CATGGTCTTCGGCATCATGCT	0.701000													6	16					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19277977	19277977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19277977G>A	ENST00000454498.2	-	7	2019	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R336W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	336					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCCTTTCCCCGAGAAAATTCT	0.473000													5	130					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71510176	71510176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71510176G>A	ENST00000521425.1	-	4	1158	c.122C>T	c.(121-123)gCg>gTg	p.A41V	TRAM1_ENST00000536748.1_Missense_Mutation_p.A96V|TRAM1_ENST00000262213.2_Missense_Mutation_p.A127V|TRAM1_ENST00000521049.1_5'UTR			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	127					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGGTAGAACGCACTAAGCTG	0.358000													16	16					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65212053	65212053	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65212053T>C	ENST00000358691.5	-	5	377		c.e5-2		HELZ_ENST00000580662.1_Splice_Site|HELZ_ENST00000580168.1_Splice_Site	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAATTTTTCTGCAAAACAAA	0.279000													4	12					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143357	154143357	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154143357T>C	ENST00000404039.1	+	2	697	c.110T>C	c.(109-111)cTt>cCt	p.L37P	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.L39P|DPP6_ENST00000406326.1_Missense_Mutation_p.L101P|DPP6_ENST00000332007.3_Missense_Mutation_p.L39P|DPP6_ENST00000377770.3_Missense_Mutation_p.L101P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	101					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGCACTGCTTGTCATTCTG	0.458000													48	45					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526719	234526719	+	Silent	SNP	G	G	A	rs28969669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526719G>A	ENST00000373450.4	+	1	429	c.366G>A	c.(364-366)tcG>tcA	p.S122S		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATTTTTTTCGCATTGCAGGA	0.353000													49	103					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73770800	73770800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770800C>T	ENST00000223398.6	+	5	1191	c.864C>T	c.(862-864)atC>atT	p.I288I	CLIP2_ENST00000361545.5_Silent_p.I288I|CLIP2_ENST00000395060.1_Silent_p.I288I	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	288						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGATCCGTATCGGCTTCCCAT	0.587000													8	86					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197419	24197419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197419G>A	ENST00000379177.1	+	6	605	c.178G>A	c.(178-180)Gat>Aat	p.D60N	ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.D60N|ZFX_ENST00000379188.3_Missense_Mutation_p.D60N|ZFX_ENST00000540034.1_Missense_Mutation_p.D99N|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D60N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGATGACCCAGATTCAGTTGT	0.388000													85	138					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730022	200730022	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200730022A>G	ENST00000358823.2	+	2	465	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CAMSAP2_ENST00000413307.2_Silent_p.E65E|CAMSAP2_ENST00000236925.4_Silent_p.E65E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	65						cytoplasm|microtubule	protein binding										ATGACCAGGAACACATCAAAC	0.373000													9	160					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207444	130207444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130207444G>A	ENST00000342483.5	+	5	1871	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	ZNF79_ENST00000543471.1_Missense_Mutation_p.V465I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTGCCTTCGTTAGACATCA	0.557000													47	88					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469707	8469707	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8469707A>G	ENST00000389737.4	+	9	1561	c.1561A>G	c.(1561-1563)Act>Gct	p.T521A	TRMT44_ENST00000513449.2_Missense_Mutation_p.T280A	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		TGAAAAGAGGACTCAGTACAT	0.532000													3	41					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980444	67980444	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67980444G>T	ENST00000422611.2	-	17	2379	c.2340C>A	c.(2338-2340)atC>atA	p.I780I	SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Silent_p.I730I|SLC12A4_ENST00000537830.2_Silent_p.I772I|SLC12A4_ENST00000316341.3_Silent_p.I778I|SLC12A4_ENST00000541864.2_Silent_p.I747I|SLC12A4_ENST00000576616.1_Silent_p.I778I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	778					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGGACTGGATGAGGTGGG	0.632000													16	69					9.16793e-09	1.10245e-08	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113377544	113377544	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113377544G>T	ENST00000316407.4	-	7	3395	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.T995T	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	995					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGAGACCTGTGGTTTGCATTG	0.388000													13	134					3.27435e-08	3.90559e-08	1	1	0
SGMS2	166929	broad.mit.edu	37	4	108829850	108829850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108829850G>A	ENST00000394684.4	+	6	1414	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.R286Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.R286Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	286					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ATCACAACACGACTGTTTTGG	0.423000													49	62					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001933	98001933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98001933C>A	ENST00000355273.2	+	1	202	c.202C>A	c.(202-204)Ctt>Att	p.L68I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTACTTTTTTCTTGGGAGTTT	0.408000													113	179					2.19568e-55	2.97119e-55	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37153906	37153906	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37153906T>G	ENST00000274258.7	-	41	8428	c.4841A>C	c.(4840-4842)aAc>aCc	p.N1614T	C5orf42_ENST00000425232.2_Missense_Mutation_p.N2716T|C5orf42_ENST00000508244.1_Missense_Mutation_p.N2716T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2716										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAGCAATGTTCTGTATTGC	0.423000													35	55					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309099	49309099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49309099G>A	ENST00000559471.1	-	10	1628	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	SECISBP2L_ENST00000261847.3_Silent_p.A410A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGTGGCAAGGGCTGCTGCTA	0.368000													32	44					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150469060	150469060	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150469060T>C	ENST00000369064.3	+	8	911	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R	TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	293					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGGAAGCATGGAGGGAGGA	0.542000													69	62					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28785917	28785917	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28785917T>C	ENST00000422425.2	+	18	1234	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	PLB1_ENST00000327757.5_Missense_Mutation_p.L386P|PLB1_ENST00000329020.6_Missense_Mutation_p.L74P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	386	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCATAGGCTGAAGCCGGCT	0.483000													7	54					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142397024	142397024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142397024G>T	ENST00000258042.1	-	3	1074	c.934C>A	c.(934-936)Ctc>Atc	p.L312I	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	312					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAAACTGAGAACCCGGGCA	0.443000													26	40					7.92952e-12	9.92272e-12	1	1	0
FDXACB1	91893	broad.mit.edu	37	11	111746477	111746477	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111746477T>C	ENST00000260257.4	-	5	1091	c.1044A>G	c.(1042-1044)agA>agG	p.R348R	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Silent_p.R199R|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	348					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGAGAGAAGGTCTAAGGCAGA	0.473000													52	50					0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31213521	31213521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213521G>A	ENST00000247470.9	-	2	579	c.278C>T	c.(277-279)tCt>tTt	p.S93F	PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	93					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						CGCGGCTCCAGAGCCTGGAAG	0.697000													9	13					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13276238	13276238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276238G>A	ENST00000378681.3	-	1	93	c.21C>T	c.(19-21)gtC>gtT	p.V7V	UCMA_ENST00000463405.2_Silent_p.V7V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	7						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AAGACAGCAGGACGGCCTGTC	0.582000													3	28					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73651590	73651590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73651590C>T	ENST00000263666.4	-	3	947	c.833G>A	c.(832-834)aGt>aAt	p.S278N	PDZRN3_ENST00000308537.4_Missense_Mutation_p.S278N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	278	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTCCTTCACTGGATGATCC	0.408000													10	151					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734616	110734616	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110734616A>G	ENST00000331565.4	+	7	1372	c.887A>G	c.(886-888)cAg>cGg	p.Q296R		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	296					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGACCCCCAGGTGTGGCGG	0.542000													3	70					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829594	43829594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829594C>A	ENST00000319294.6	+	3	262	c.231C>A	c.(229-231)ttC>ttA	p.F77L	UBASH3A_ENST00000398367.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.F77L|UBASH3A_ENST00000450356.1_Missense_Mutation_p.F77L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	77						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGCCCTTTTCCTCTGTCCAA	0.557000													6	79					0.217242	0.218821	1	1	0
FMR1	2332	broad.mit.edu	37	X	147013976	147013976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147013976A>G	ENST00000218200.8	+	8	892	c.663A>G	c.(661-663)gaA>gaG	p.E221E	FMR1_ENST00000370475.4_Silent_p.E221E|FMR1_ENST00000370477.1_Silent_p.E221E|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Silent_p.E221E|FMR1_ENST00000370471.3_Silent_p.E221E|FMR1_ENST00000334557.6_Silent_p.E221E|FMR1_ENST00000370470.1_Silent_p.E221E	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	221					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCATGAACAGTTTATCG	0.418000									Fragile X syndrome				48	84					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053116	50053116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053116G>A	ENST00000376042.1	+	6	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_ENST00000276014.7_Silent_p.L649L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	649					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428000													6	22					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717608	72717608	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72717608G>A	ENST00000428206.1	-	9	1174	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	NSUN5_ENST00000252594.6_Silent_p.V425V|NSUN5_ENST00000438747.2_Silent_p.V425V|NSUN5_ENST00000310326.8_Silent_p.V425V	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	425							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGGCACCTCGACCCGTTCAA	0.612000													26	27					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70352363G>A	ENST00000333646.6	+	31	4589	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.E1464K|MED12_ENST00000374080.3_Missense_Mutation_p.E1464K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	4					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229677	38229677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38229677G>A	ENST00000339503.4	-	8	2041	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	ZNF573_ENST00000357309.3_Missense_Mutation_p.H484Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H485Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H484Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H572Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATGCTCTGATGTGCAGTAAGG	0.358000													9	91					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167894882	167894882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167894882C>T	ENST00000265293.4	+	22	3690	c.3188C>T	c.(3187-3189)aCa>aTa	p.T1063I	WWC1_ENST00000521089.1_Missense_Mutation_p.T1069I|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1063	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTTCAGACAGACAAGATG	0.587000													7	34					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31937356	31937356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31937356G>A	ENST00000375394.2	+	28	3718	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1009H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1202						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATTCAGCGCCTGGCTGAG	0.652000													31	66					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641415	140641415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641415G>A	ENST00000509479.2	-	5	3335	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	823	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCATCAGCCGTGACGTTCGC	0.587000													37	57					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45544500	45544500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45544500C>T	ENST00000291576.7	+	15	1984	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	619						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACGGCCACAGCATCCTGGCGG	0.582000													17	27					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95950734	95950734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95950734G>A	ENST00000317620.9	+	15	1879	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	PROM2_ENST00000317668.4_Silent_p.R582R|PROM2_ENST00000403131.2_Silent_p.R582R|PROM2_ENST00000542147.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACAAGCTACGGCAGGAGTTGC	0.632000													4	8					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97874290	97874290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97874290C>T	ENST00000447648.2	-	4	614	c.315G>A	c.(313-315)ccG>ccA	p.P105P	TECPR1_ENST00000379795.3_Silent_p.P105P|TECPR1_ENST00000542604.1_Silent_p.P26P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	105						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTGTCCAGCGGCCGGTGCT	0.637000													15	10					0	0	1	0	0
TIMM10	26519	broad.mit.edu	37	11	57296339	57296339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57296339C>A	ENST00000257245.4	-	3	276	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TIMM10_ENST00000525158.1_Nonsense_Mutation_p.E42*|TIMM10_ENST00000525587.1_Nonsense_Mutation_p.E42*	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	42					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			cervix(1)|large_intestine(2)	3						TTGGAGAGCTCTGCTTCCTTG	0.552000													8	29					0.307466	0.308846	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140957091	140957091	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140957091G>T	ENST00000253811.6	-	12	1371	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	DIAPH1_ENST00000389054.3_Missense_Mutation_p.L411I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L402I|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L402I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L402I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L357I|DIAPH1_ENST00000398557.4_Missense_Mutation_p.L411I|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L402I			O60610	DIAP1_HUMAN	diaphanous-related formin 1	411	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGGAAAGGAAGTGTGGC	0.418000													41	71					9.73076e-26	1.29479e-25	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143028657	143028657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143028657C>T	ENST00000343257.2	+	10	1165	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	360					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGTGGGCTCCTGGGAGC	0.473000													55	34					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19737998	19737998	+	Missense_Mutation	SNP	C	C	T	rs61734275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:19737998C>T	ENST00000222567.5	-	4	1028	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	320	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E320K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368000													98	73					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17030083G>A	ENST00000395811.5	+	4	424	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPRIP_ENST00000444976.1_Missense_Mutation_p.R112H|MPRIP_ENST00000395804.3_Missense_Mutation_p.R112H|MPRIP_ENST00000341712.4_Missense_Mutation_p.R112H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding	p.R112H(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGGAGGGCCGCACGGGCCAG	0.597000													8	57					0	0	1	0	0
ZNF319	0	broad.mit.edu	37	16	58031995	58031995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58031995C>T	ENST00000299237.2	-	2	797	c.175G>A	c.(175-177)Ggc>Agc	p.G59S		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGCTGCAGGCCGGGGTCTGGC	0.697000													15	23					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155160378	155160378	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155160378T>G	ENST00000357232.3	-	24	6070	c.6071A>C	c.(6070-6072)aAc>aCc	p.N2024T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2024	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAAGAAATGTTCTCATTGCT	0.383000													9	42					0	0	1	0	0
EPS8	0	broad.mit.edu	37	12	15774360	15774360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15774360C>T	ENST00000281172.5	-	21	2796	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	EPS8_ENST00000542903.1_Missense_Mutation_p.S527N|EPS8_ENST00000540613.1_Missense_Mutation_p.S527N|EPS8_ENST00000543612.1_Missense_Mutation_p.S787N|EPS8_ENST00000543523.1_Missense_Mutation_p.S787N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	787					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCACTGCTATCCTGAAA	0.418000													5	16					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19626117	19626117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19626117C>T	ENST00000397821.3	-	9	1234	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R54Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R77Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R278Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R359Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	315	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAACACGCCTCGTCTGCCGTT	0.527000													24	24					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117716	96117716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117716C>T	ENST00000278520.5	-	3	624	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CCDC82_ENST00000542662.1_Missense_Mutation_p.E66K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E66K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	66							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTATCAAGCTCTTCATCATTT	0.338000													50	50					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916564	150916564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150916564G>A	ENST00000309180.5	-	3	840	c.610C>T	c.(610-612)Cga>Tga	p.R204*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAGCTGTCGAATTACAAGG	0.333000													17	34					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768121	88768121	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768121G>A	ENST00000444431.1	+	0	2721				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GTTTTCCACCGTGCACATTAC	0.428000													4	63					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867076	5867076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5867076G>A	ENST00000252675.5	-	5	1223	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	FUT5_ENST00000588525.1_Missense_Mutation_p.R221C			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGTAGTAGCGCACCCTGGCC	0.667000													15	25					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94991693	94991693	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94991693T>G	ENST00000265627.5	-	8	897	c.887A>C	c.(886-888)gAg>gCg	p.E296A	PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGAGGGTCCTCAGGGTTATA	0.468000													5	52					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31267806	31267806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31267806C>T	ENST00000579849.1	+	8	907	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TMEM98_ENST00000394642.3_Missense_Mutation_p.T159M|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	159						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTCCCTAGGACGACTGCCCTG	0.498000													35	85					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091114	34091114	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34091114C>T	ENST00000397527.1	+	30	5637	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CEP250_ENST00000342580.4_Silent_p.I1583I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1639	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAACAGATCGAGGAGCTGC	0.562000													32	31					0	0	1	0	0
ZNF266	0	broad.mit.edu	37	19	9523993	9523993	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9523993T>C	ENST00000592904.1	-	5	3684	c.1608A>G	c.(1606-1608)cgA>cgG	p.R536R	ZNF266_ENST00000588933.1_Silent_p.R536R|ZNF266_ENST00000361151.1_Silent_p.R536R|ZNF266_ENST00000592292.1_Silent_p.R536R|ZNF266_ENST00000588221.1_Silent_p.R536R|ZNF266_ENST00000361451.2_Silent_p.R536R|ZNF266_ENST00000590306.1_Silent_p.R536R			Q14584	ZN266_HUMAN	zinc finger protein 266	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCATGATTTCGAAAGGAAC	0.443000													29	49					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054273	49054273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49054273A>G	ENST00000440857.1	-	7	1136	c.434T>C	c.(433-435)cTc>cCc	p.L145P	DALRD3_ENST00000313778.5_Missense_Mutation_p.L145P|DALRD3_ENST00000441576.2_Missense_Mutation_p.L312P|DALRD3_ENST00000395462.4_Missense_Mutation_p.L145P|DALRD3_ENST00000341949.4_Missense_Mutation_p.L312P			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	312					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACAGATGAGGTGCTTCTG	0.567000													5	51					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18668631	18668631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18668631C>T	ENST00000379989.3	+	21	3184	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	CDKL5_ENST00000379996.3_Missense_Mutation_p.L967F|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	967					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTATCCAGTACTCCAGGTCCG	0.567000													28	33					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131722800	131722800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131722800C>T	ENST00000245407.3	+	5	1129	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A327V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	303					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTGCCAAAGCCAATGGGATT	0.552000											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	239					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514815	88514815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514815C>A	ENST00000552810.1	-	14	1661	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.E440*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	440					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAACTAATTCTTTATCCTTT	0.358000													13	25					9.31168e-06	1.06029e-05	1	1	0
MYO10	4651	broad.mit.edu	37	5	16676221	16676221	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16676221G>A	ENST00000513610.1	-	34	5039	c.4585C>T	c.(4585-4587)Cgg>Tgg	p.R1529W	MYO10_ENST00000505695.1_Missense_Mutation_p.R868W|MYO10_ENST00000515803.1_Missense_Mutation_p.R868W|MYO10_ENST00000274203.9_Missense_Mutation_p.R886W|MYO10_ENST00000427430.2_Missense_Mutation_p.R886W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1529					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGGGTTCCGCTTGTAAATC	0.463000													31	39					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763849	92763849	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92763849T>C	ENST00000318238.4	-	5	2652	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N479S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N479S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	479										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCCACATGTTAGTTGTCTT	0.403000													41	137					0	0	1	0	0
IKBKE	0	broad.mit.edu	37	1	206647680	206647680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206647680G>A	ENST00000367120.3	+	4	467	c.94G>A	c.(94-96)Gga>Aga	p.G32R	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	32	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAGAAATCCGGAGAGCTGGT	0.602000													28	25					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135307563	135307563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135307563G>A	ENST00000285968.6	+	31	4395	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1457					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCCCCTGAAGATGTATTTAG	0.403000													24	73					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110927	106110927	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106110927G>A	ENST00000390545.2	-	0	200																											CGGTCACCACGCTGCTGAGGG	0.607000													15	24					0	0	1	0	0
PRKCDBP	112464	broad.mit.edu	37	11	6340468	6340468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6340468C>T	ENST00000303927.3	-	2	881	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PRKCDBP_ENST00000530979.1_Silent_p.P269P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	237										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTCCTGCGGAGGCTCTG	0.692000													83	97					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811240	116811240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811240G>A	ENST00000288466.7	+	14	1478	c.1379G>A	c.(1378-1380)tGc>tAc	p.C460Y	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C553Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGTGTCACCTGCCACTCCCAG	0.592000													4	13					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946498	150946498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946498T>C	ENST00000261800.5	-	1	2007	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	665	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACAGGAACTTCAAAATGAG	0.423000													30	55					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374307	62374307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374307C>T	ENST00000266077.2	+	8	1180	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	376						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACAGCCTGCCGCTGGAAGA	0.657000													8	4					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62854528	62854528	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854528T>C	ENST00000536311.1	+	15	2904		c.e15+2		MYT1_ENST00000360149.4_Splice_Site|MYT1_ENST00000328439.1_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACCGCAGGTTTGTCTCCTG	0.612000													9	174					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701743	30701743	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30701743G>A	ENST00000256246.2	-	1	4865	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1597										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCACTCACGTATGACGCAG	0.403000													55	66					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481533	7481533	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7481533T>C	ENST00000293831.8	+	10	1063	c.1047T>C	c.(1045-1047)ctT>ctC	p.L349L	EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	349	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACTATGACCTTCCCACCAACA	0.498000													4	50					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645423	19645423	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645423T>C	ENST00000457500.2	-	4	912	c.583A>G	c.(583-585)Atc>Gtc	p.I195V	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I195V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I195V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I195V|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I122V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	195					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCATGATGATCTTCCCCACC	0.597000													14	24					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38127090	38127090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38127090C>T	ENST00000351218.2	-	6	909	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZFP30_ENST00000514101.2_Missense_Mutation_p.E118K|ZFP30_ENST00000392144.1_Missense_Mutation_p.E118K|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGACTTTCTTGTTCTTCA	0.358000													34	39					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572669	101572669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101572669C>T	ENST00000326172.5	+	5	1414	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NFKBIZ_ENST00000326151.5_Silent_p.S311S|NFKBIZ_ENST00000394054.2_Silent_p.S333S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	433	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAATATTTCCCAAGACCAGT	0.408000													19	37					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17158125	17158125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17158125G>T	ENST00000265970.7	-	8	1751	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PIK3C2A_ENST00000540361.1_Silent_p.I204I|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	584					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAGCACTACAGATTTTTCTTA	0.333000													52	65					1.72845e-40	2.33163e-40	1	1	0
KIAA1841	84542	broad.mit.edu	37	2	61310368	61310368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61310368C>T	ENST00000402291.1	+	8	1050	c.809C>T	c.(808-810)gCa>gTa	p.A270V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.A270V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.A270V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.A270V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	270										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTATTAATGCAAATCTTCTC	0.299000													27	35					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387952	50387952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50387952C>T	ENST00000221543.5	+	13	1680	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R428W	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	461	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCATGAAGCGGCAACTCGG	0.627000													17	31					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223175814G>A	ENST00000284476.6	+	8	1239	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	359					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	51					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66532333	66532333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532333G>A	ENST00000359626.5	+	10	1381	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	406					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAGAGCCATCGCTGCATGGAA	0.413000													99	68					0	0	1	0	0
NR4A2	0	broad.mit.edu	37	2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493000													24	37					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706480	128706480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706480C>T	ENST00000265068.5	-	4	813	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104M|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216M	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433000													24	47					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62204914	62204914	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62204914A>G	ENST00000394997.1	+	10	1627	c.1362A>G	c.(1360-1362)ttA>ttG	p.L454L	HIF1A_ENST00000337138.4_Silent_p.L453L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Silent_p.L477L|HIF1A_ENST00000557538.1_Silent_p.L394L|HIF1A_ENST00000323441.6_Silent_p.L453L|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	453	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGTCTCCATTACCCACCGCTG	0.418000													8	86					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184562	64184562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184562G>A	ENST00000295902.6	-	2	627	c.42C>T	c.(40-42)agC>agT	p.S14S	PRICKLE2_ENST00000564377.1_Silent_p.S70S|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	14						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACATGAGTTTGCTGATGGTCT	0.542000													4	43					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100604907	100604907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100604907C>A	ENST00000308731.7	-	19	2109	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	BTK_ENST00000372880.1_Missense_Mutation_p.S473I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	649	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGAATATTGCTCAGAAGAAT	0.403000									Agammaglobulinemia, X-linked				7	233					8.12818e-05	8.99451e-05	1	1	0
FMNL1	752	broad.mit.edu	37	17	43320643	43320643	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43320643G>T	ENST00000331495.3	+	17	2505	c.2169G>T	c.(2167-2169)cgG>cgT	p.R723R	FMNL1_ENST00000328118.3_Silent_p.R723R|FMNL1_ENST00000587489.1_Silent_p.R301R	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	723	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCACCCTGCGGAAGGGCAACC	0.637000													8	60					1.12685e-05	1.27857e-05	1	1	0
NEMF	9147	broad.mit.edu	37	14	50295879	50295879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50295879C>T	ENST00000298310.5	-	13	1574	c.1125G>A	c.(1123-1125)tgG>tgA	p.W375*	NEMF_ENST00000545773.1_Nonsense_Mutation_p.W333*|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Nonsense_Mutation_p.W375*			O60524	NEMF_HUMAN	nuclear export mediator factor	375						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAATTTCTGTCCAATCTATCT	0.388000													50	99					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81917736	81917736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81917736T>C	ENST00000438331.1	-	15	1804	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	ANXA11_ENST00000537102.1_Missense_Mutation_p.N408S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N441S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N441S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N441S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N441S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N441S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	441					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CATGGCCTTGTTGAGCCTCTC	0.532000													28	51					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494308	110494308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110494308C>T	ENST00000324068.1	-	8	1162	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R77H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	332	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.R332L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTGAAAGTTGCGGCAAAAGTC	0.438000													173	239					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113005	18113005	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18113005G>A	ENST00000403915.1	+	3	1181	c.730G>A	c.(730-732)Gct>Act	p.A244T	KCNS3_ENST00000304101.4_Missense_Mutation_p.A244T|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	244					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGGCTGCCGCTCCTTGTCA	0.522000													33	60					0	0	1	0	0
CYP11B1	0	broad.mit.edu	37	8	143955889	143955889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143955889A>G	ENST00000292427.4	-	9	1444	c.1412T>C	c.(1411-1413)cTc>cCc	p.L471P	CYP11B1_ENST00000517471.1_Missense_Mutation_p.L405P|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L542P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	471					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCCACCTGGAGGTGTTTCAG	0.532000									Familial Hyperaldosteronism type I				7	50					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54858298	54858298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54858298C>T	ENST00000333896.5	+	15	3460	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	SPTBN1_ENST00000356805.4_Silent_p.A1038A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1038					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCGGCTGGCCGAGATCAGCG	0.627000													23	49					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700693	6700693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6700693G>A	ENST00000309577.6	-	22	3442	c.3279C>T	c.(3277-3279)taC>taT	p.Y1093Y	CHD4_ENST00000544040.1_Silent_p.Y1086Y|CHD4_ENST00000544484.1_Silent_p.Y1090Y|CHD4_ENST00000357008.2_Silent_p.Y1093Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1093	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGATGCGTTCGTATTTATAAC	0.438000													6	128					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522000													41	45					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115111086	115111086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111086G>A	ENST00000542447.2	-	2	307	c.179C>T	c.(178-180)gCg>gTg	p.A60V	CADM1_ENST00000536727.1_Missense_Mutation_p.A60V|CADM1_ENST00000537058.1_Missense_Mutation_p.A60V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.A60V|CADM1_ENST00000331581.6_Missense_Mutation_p.A60V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	60	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTGATGGTCGCAACCTCTCC	0.433000													19	25					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883304	28883304	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28883304G>T	ENST00000337120.5	+	5	4804	c.1513_splice	c.e5+1	p.G505_splice	SH2B1_ENST00000545570.1_Splice_Site_p.G195_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G505_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G505_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G505_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site_p.G169_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	505	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACAGCCACAGGTACCGGAGG	0.642000													9	18					6.40141e-05	7.11719e-05	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196367748	196367748	+	Silent	SNP	A	A	G	rs12738104		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196367748A>G	ENST00000367433.5	-	13	1340	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	KCNT2_ENST00000451324.2_Silent_p.C24C|KCNT2_ENST00000294725.8_Silent_p.C413C|KCNT2_ENST00000367431.4_Silent_p.C413C|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	413			C -> W (in dbSNP:rs12738104).			voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATACAAAGGACAATTTGGAG	0.323000													31	38					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12863727	12863727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12863727G>A	ENST00000524591.2	+	3	505	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	KIAA1456_ENST00000528753.2_Missense_Mutation_p.A6T|KIAA1456_ENST00000528335.1_3'UTR|KIAA1456_ENST00000400069.3_Missense_Mutation_p.A6T|KIAA1456_ENST00000447063.2_Missense_Mutation_p.A6T	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	6							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGAAGCCGCCCAGCTGGA	0.542000													9	16					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35940854	35940854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35940854G>A	ENST00000599180.1	+	2	318	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	FFAR2_ENST00000246549.2_Missense_Mutation_p.V80I|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	80						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCCAAGGTCGTCTGCGC	0.622000													10	16					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13657462	13657462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13657462C>T	ENST00000011619.3	-	4	841	c.783G>A	c.(781-783)tcG>tcA	p.S261S	RANBP9_ENST00000539980.1_Silent_p.S32S	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	261	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGAACAAAACGAATGTCCAT	0.393000													24	35					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112328	136112328	+	Silent	SNP	G	G	A	rs150021829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136112328G>A	ENST00000298110.1	-	1	1505	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	502						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGCAGAATCGTAGGAAGGGA	0.463000													27	42					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674065	4674065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4674065G>T	ENST00000396952.5	+	2	959	c.309G>T	c.(307-309)caG>caT	p.Q103H	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGCTACAGATGTTTGCCA	0.517000													6	49					0.00116845	0.00124821	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196642621	196642621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196642621C>T	ENST00000312428.6	-	59	11067	c.10967G>A	c.(10966-10968)cGc>cAc	p.R3656H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R139H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3656					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGAATGCTGCGCAGCGTGCG	0.468000													21	44					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155691	106155691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155691G>A	ENST00000540549.1	+	3	1452	c.592G>A	c.(592-594)Gta>Ata	p.V198I	TET2_ENST00000394764.1_Missense_Mutation_p.V198I|TET2_ENST00000545826.1_Missense_Mutation_p.V198I|TET2_ENST00000413648.2_Missense_Mutation_p.V198I|TET2_ENST00000513237.1_Missense_Mutation_p.V219I|TET2_ENST00000305737.2_Missense_Mutation_p.V198I|TET2_ENST00000380013.4_Missense_Mutation_p.V198I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	198					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGAACATTGTATTACTTAA	0.428000			"""Mis N, F"""		MDS								11	31					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205192	129205192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129205192A>G	ENST00000308167.5	-	7	1011	c.632T>C	c.(631-633)cTg>cCg	p.L211P	ELF4_ENST00000335997.7_Missense_Mutation_p.L211P	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	211					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACTCCCACAGATAGATGGT	0.617000			T	ERG	AML								4	75					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913976	72913976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72913976A>G	ENST00000322342.3	-	2	818	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L	ZADH2_ENST00000537114.2_Silent_p.L54L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	177						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTGTCACCAAAACTTTTTTC	0.517000													168	245					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27134370G>A	ENST00000343060.4	-	2	758	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	233						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R233C(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTGGTGCGCACCGCGTTG	0.537000													5	96					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439691	37439691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439691C>A	ENST00000379826.4	-	5	1328	c.986G>T	c.(985-987)aGg>aTg	p.R329M	SMAD9_ENST00000350148.5_Missense_Mutation_p.R292M|SMAD9_ENST00000399275.2_Missense_Mutation_p.R329M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	329	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATATGTCTCCTGGTATTTTC	0.413000													14	55					2.31682e-05	2.60394e-05	1	1	0
SLC9A1	6548	broad.mit.edu	37	1	27426801	27426801	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426801C>T	ENST00000263980.3	-	12	3020	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q	SLC9A1_ENST00000545949.1_Silent_p.Q476Q	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	815					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTGGTGTTACTGCCCCTTGG	0.667000													11	15					0	0	1	0	0
UBE2H	7328	broad.mit.edu	37	7	129474840	129474840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129474840G>A	ENST00000355621.3	-	7	882	c.489C>T	c.(487-489)gaC>gaT	p.D163D	UBE2H_ENST00000473814.2_Silent_p.D132D	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCGATGAGCTGTCCCCGGTAC	0.498000													10	75					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98555694	98555694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98555694C>A	ENST00000359863.4	+	43	6510	c.6301C>A	c.(6301-6303)Ctt>Att	p.L2101I	TRRAP_ENST00000355540.3_Missense_Mutation_p.L2083I|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2082I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2101	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGAACTTCCTTATCCGCGT	0.572000													10	26					0.010729	0.0111717	1	1	0
DUSP7	1849	broad.mit.edu	37	3	52088116	52088116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088116G>A	ENST00000495880.1	-	2	975	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DUSP7_ENST00000296483.6_Silent_p.D213D			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	264					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCGAGCACGTCCAGGTTGG	0.592000													47	65					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171396	150171396	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150171396T>G	ENST00000307271.3	+	4	1553	c.979T>G	c.(979-981)Ttc>Gtc	p.F327V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	327						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCCCCATGCCTTCCTGCTGGT	0.413000													4	81					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549874	46549874	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46549874C>A	ENST00000242848.4	-	12	2360	c.2012G>T	c.(2011-2013)aGg>aTg	p.R671M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R671M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	671	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATCTCTCCTATCATCCAC	0.502000													6	39					8.12818e-05	8.99451e-05	1	1	0
PTPN9	5780	broad.mit.edu	37	15	75815540	75815540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75815540C>A	ENST00000306726.2	-	4	856	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	115	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATGCAACCTGGCAGTAAA	0.398000													21	26					3.5997e-14	4.58862e-14	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35275397	35275397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35275397G>T	ENST00000356321.4	-	3	583	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATTTAAAAGGCAGACTATG	0.353000													25	60					9.86323e-18	1.2813e-17	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184663407	184663407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184663407C>T	ENST00000318130.8	-	20	2855	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	EDEM3_ENST00000367512.3_Silent_p.Q836Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	863					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTAGAAGTCTGTTCAGAAG	0.373000													5	59					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985339	54985339	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54985339G>T	ENST00000375006.3	-	5	474	c.404C>A	c.(403-405)aCt>aAt	p.T135N	PFKFB1_ENST00000374992.2_Missense_Mutation_p.T113N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.T70N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	135	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCTCTGGTAGTGTTGGTGGC	0.453000													7	180					8.12818e-05	8.99451e-05	1	1	0
PHC3	80012	broad.mit.edu	37	3	169820406	169820406	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169820406G>A	ENST00000494943.1	-	14	2726	c.2658C>T	c.(2656-2658)agC>agT	p.S886S	PHC3_ENST00000467570.1_3'UTR|PHC3_ENST00000495893.1_Silent_p.S898S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	886					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCCGCTCGCTCTGCCTGC	0.473000													28	50					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159148	130159148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130159148T>C	ENST00000265379.6	+	35	6460	c.5966T>C	c.(5965-5967)gTg>gCg	p.V1989A	COL6A5_ENST00000432398.2_Missense_Mutation_p.V1989A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1989	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAGCTCAGTGATTGACAAC	0.413000													14	15					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153324	2153324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153324C>T	ENST00000262304.4	-	23	8942	c.8734G>A	c.(8734-8736)Gac>Aac	p.D2912N	PKD1_ENST00000423118.1_Missense_Mutation_p.D2912N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2912					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCTGCTGTCCAGGGTGACC	0.697000													17	36					0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44156081	44156081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44156081G>A	ENST00000406581.2	-	8	1458	c.809C>T	c.(808-810)gCa>gTa	p.A270V	POLD2_ENST00000452185.1_Missense_Mutation_p.A270V|POLD2_ENST00000223361.3_Missense_Mutation_p.A270V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	270					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGCTGGCTGCCTGGGTTTT	0.592000													7	9					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85769296	85769296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85769296G>T	ENST00000373131.1	+	2	666	c.503G>T	c.(502-504)aGg>aTg	p.R168M	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.R14M|DACH2_ENST00000373125.4_Missense_Mutation_p.R181M	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGACCCGGCAGGCCCCCTAAG	0.438000													4	17					0.217242	0.218821	1	1	0
TEK	7010	broad.mit.edu	37	9	27157963	27157963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27157963G>A	ENST00000380036.4	+	2	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.A63T	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	63	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTTGAAGCCTTAATGAA	0.478000													26	36					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541169	35541169	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35541169C>T	ENST00000287272.2	+	5	695	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UNC5D_ENST00000416672.1_Silent_p.D225D|UNC5D_ENST00000453357.2_Silent_p.D220D|UNC5D_ENST00000404895.2_Silent_p.D225D|UNC5D_ENST00000420357.1_Silent_p.D225D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	225	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCTCTCGGACTCAGGAAATT	0.517000													14	27					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038775	11038775	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038775C>A	ENST00000470054.1	-	0	1428									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGTAATAGCTGGTTTACCC	0.388000													19	232					1.15919e-05	1.31461e-05	1	1	0
CLN8	2055	broad.mit.edu	37	8	1728703	1728703	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1728703C>T	ENST00000331222.4	+	3	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	277					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CAGAAGGCAACGGGCAGCTGC	0.592000													31	66					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193181591	193181591	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193181591C>A	ENST00000367435.3	+	13	1322	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	380					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCAAAAGACCTTCTACAGGA	0.328000													9	207					2.17888e-05	2.45068e-05	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56544907	56544907	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56544907G>T	ENST00000390649.3	+	9	2447		c.e9-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCATTGCAGGTTTAGAAAT	0.478000													7	96					0.0293803	0.0301098	1	1	0
MROH7	374977	broad.mit.edu	37	1	55119694	55119694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55119694C>T	ENST00000414150.2	+	3	1373	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	MROH7_ENST00000395690.2_Silent_p.I365I|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.I365I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Silent_p.I365I					maestro heat-like repeat family member 7									p.I365I(2)									ACAACAGCATCCACACTGTGC	0.582000													18	24					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114957	30114957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30114957G>A	ENST00000396581.1	+	4	1023	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	TRIM40_ENST00000307859.4_Missense_Mutation_p.A184T|TRIM40_ENST00000376724.2_Missense_Mutation_p.A213T			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	213						intracellular	zinc ion binding			ovary(1)	1						GGAAAGGACGGCCAAGGAATT	0.572000													8	86					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411875	45411875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45411875C>T	ENST00000252486.4	+	4	433	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	108	8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGAGACGCGGGCACGGCT	0.687000													5	6					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	755902	755902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:755902G>A	ENST00000319006.3	+	2	274	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TALDO1_ENST00000528097.1_Missense_Mutation_p.D41N			P37837	TALDO_HUMAN	transaldolase 1	41					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAAGCCCCAGGATGCTACCAC	0.552000													7	39					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99051747	99051747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99051747C>T	ENST00000436336.2	+	7	815	c.654C>T	c.(652-654)gtC>gtT	p.V218V	CPSF4_ENST00000441580.1_Silent_p.V165V|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.V185V|CPSF4_ENST00000292476.5_Silent_p.V243V|PTCD1_ENST00000555673.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	243					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGGTCACCTGTTACA	0.602000													20	64					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155307045	155307045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155307045C>T	ENST00000392825.3	+	13	2220	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	551						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCTAAGGAACATGACCTTGG	0.428000													5	27					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613580	613580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:613580G>A	ENST00000397566.1	-	7	1311	c.902C>T	c.(901-903)gCg>gTg	p.A301V	IRF7_ENST00000330243.5_Missense_Mutation_p.A301V|IRF7_ENST00000397570.1_Missense_Mutation_p.A259V|IRF7_ENST00000397574.2_Missense_Mutation_p.A288V|IRF7_ENST00000348655.6_Missense_Mutation_p.A259V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000525445.1_Missense_Mutation_p.A182V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	288					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTCCAGCGCCCCTGGGCT	0.667000													9	7					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96234514	96234514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96234514T>C	ENST00000225235.4	+	3	1295	c.1185T>C	c.(1183-1185)acT>acC	p.T395T		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	395						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTACCACTGCCTTGATTC	0.353000													5	66					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107936010	107936010	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107936010A>G	ENST00000328300.6	+	50	4805	c.4561A>G	c.(4561-4563)Acc>Gcc	p.T1521A	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1515A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1515	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCGCTTTAGTACCATGCCTTT	0.428000									Alport syndrome with Diffuse Leiomyomatosis				3	74					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2229990	2229990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2229990G>A	ENST00000343516.6	-	18	3471	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1127	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGATGCGCCTCTTGAGT	0.682000													3	8					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325355	150325355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150325355C>T	ENST00000328902.5	-	3	547	c.331G>A	c.(331-333)Gct>Act	p.A111T	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R36H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	111							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGATAGCGTCTGCCACC	0.627000													6	98					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186522416	186522416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522416G>A	ENST00000392481.2	-	2	368	c.87C>T	c.(85-87)agC>agT	p.S29S	RFC4_ENST00000433496.1_Silent_p.S29S|RFC4_ENST00000296273.2_Silent_p.S29S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTTCTCTCCGCTACTTCCCG	0.438000													73	85					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875507	62875507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:62875507C>A	ENST00000253401.6	-	8	1967	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K287N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K368N|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K336N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K116N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	389	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAAAGGCATTCTTCATGCTGA	0.443000													66	98					1.17253e-29	1.56951e-29	1	1	0
CYP27C1	339761	broad.mit.edu	37	2	127944964	127944964	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944964C>A	ENST00000335247.7	-	8	1133		c.e8-1		CYP27C1_ENST00000409327.1_Splice_Site	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1							membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTGAAGCAACTAAGAAGAGA	0.498000													18	29					6.94344e-10	8.49476e-10	1	1	0
ROPN1B	152015	broad.mit.edu	37	3	125694466	125694466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125694466C>T	ENST00000514116.1	+	4	492	c.177C>T	c.(175-177)gtC>gtT	p.V59V	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_Intron|ROPN1B_ENST00000251776.4_Silent_p.V59V			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	59					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CTGAGCGAGTCGCTTTGTGTA	0.512000													23	36					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67786068	67786068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67786068G>A	ENST00000262345.1	+	2	657	c.17G>A	c.(16-18)aGa>aAa	p.R6K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R6K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	6					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CATACTTTTAGAGGATGCTCA	0.328000													45	67					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58075737	58075737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58075737C>T	ENST00000219271.3	+	6	1912	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	376	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GACTTTGACACAGTGGCCATG	0.677000													6	17					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607000													30	43					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70572290	70572290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70572290C>T	ENST00000302516.5	+	7	1101	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	297					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAACCAAATCGATGTTCTTC	0.388000													78	82					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753353	104753353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104753353C>A	ENST00000334877.4	+	26	5558	c.5024C>A	c.(5023-5025)cCa>cAa	p.P1675Q	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.P1717Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1717Q					lysine (K)-specific methyltransferase 2E																		GCACCCCCACCACCCCCTCCG	0.557000													29	18					1.32003e-05	1.49129e-05	1	1	0
CSDE1	7812	broad.mit.edu	37	1	115267900	115267900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267900G>A	ENST00000438362.2	-	15	2211	c.1833C>T	c.(1831-1833)agC>agT	p.S611S	CSDE1_ENST00000530886.1_Silent_p.S435S|CSDE1_ENST00000369530.1_Silent_p.S580S|CSDE1_ENST00000358528.4_Silent_p.S565S|CSDE1_ENST00000261443.5_Silent_p.S534S|CSDE1_ENST00000534699.1_Silent_p.S565S|CSDE1_ENST00000339438.6_Silent_p.S534S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	565	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTGGACAAGCTATACTCGA	0.393000													36	97					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173825907	173825907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173825907C>T	ENST00000264111.6	+	8	833	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.R73*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.R46*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.R64*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	217	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CATTCTCTCTCGAGCACCTCA	0.433000													37	48					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853553	182853553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182853553C>T	ENST00000265598.3	-	5	1324	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	357					cell proliferation	integral to membrane|lysosomal membrane		p.D357N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488000													107	140					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37304256	37304256	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37304256C>A	ENST00000336755.5	+	4	832	c.726C>A	c.(724-726)atC>atA	p.I242I	ZCCHC7_ENST00000534928.1_5'UTR|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	242							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAAACATTATCTGTAGAAATT	0.373000													5	68					0.0215528	0.0221649	1	1	0
SERPIND1	3053	broad.mit.edu	37	22	21140425	21140425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21140425G>A	ENST00000215727.5	+	4	1580	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433T|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCAAAGGATCGCCATCGACCT	0.572000													33	70					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751143	57751143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751143A>C	ENST00000274289.3	-	12	2024	c.1724T>G	c.(1723-1725)tTt>tGt	p.F575C	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	575					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAATGAGAAAAGTATTTCAG	0.438000													9	136					0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	183995273	183995273	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183995273G>A	ENST00000295119.4	+	3	442	c.339_splice	c.e3+1	p.Q113_splice	NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Splice_Site_p.Q96_splice	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	113					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAAGAAGACAGGTAATATAAA	0.378000													57	98					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781197	126781197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126781197C>A	ENST00000274473.6	+	21	2807	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.T847N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	847	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAACCAGTACTGCTCTCCCT	0.428000													29	55					1.88708e-17	2.44853e-17	1	1	0
PYGL	5836	broad.mit.edu	37	14	51387279	51387279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51387279C>T	ENST00000216392.7	-	7	1167	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	PYGL_ENST00000532462.1_Missense_Mutation_p.V279I|PYGL_ENST00000544180.2_Missense_Mutation_p.V245I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	279					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGATAGAGGACCCGGGAGATG	0.443000													29	43					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200956013	200956013	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200956013C>T	ENST00000332129.2	-	26	3964	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	KIF21B_ENST00000360529.5_Silent_p.P1216P|KIF21B_ENST00000461742.2_Silent_p.P1216P|KIF21B_ENST00000422435.2_Silent_p.P1216P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1216					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCGTCAGCGGGGACGTCT	0.547000													30	28					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68334878	68334878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68334878G>T	ENST00000297770.4	-	11	1390	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CPA6_ENST00000297769.4_Missense_Mutation_p.P148H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	392					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAATGCATAAGGTATTCCATT	0.388000													8	66					1.12685e-05	1.27857e-05	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111632216	111632216	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111632216G>A	ENST00000431670.2	+	3	1797	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PHLDB2_ENST00000393923.3_Silent_p.K489K|PHLDB2_ENST00000477695.1_Silent_p.K462K|PHLDB2_ENST00000412622.1_Silent_p.K462K|PHLDB2_ENST00000495180.1_Silent_p.K48K|PHLDB2_ENST00000481953.1_Silent_p.K462K|PHLDB2_ENST00000393925.3_Silent_p.K462K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	462						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATACACAAAGCCTGACAGTC	0.512000													69	53					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13231056	13231056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13231056C>A	ENST00000378694.1	+	9	1466	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	MCM10_ENST00000484800.2_Missense_Mutation_p.S465Y|MCM10_ENST00000378714.3_Missense_Mutation_p.S464Y			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	465					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAGGGGTTTCTTCTGCCTCG	0.493000													6	84					0.0293803	0.0301098	1	1	0
FGFRL1	53834	broad.mit.edu	37	4	1018732	1018732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018732C>T	ENST00000398484.2	+	8	1692	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.S371L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.S371L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	371					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCGTCCTCGGCCACTAGC	0.647000													14	16					0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131470	151131470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151131470G>A	ENST00000368910.3	+	2	423	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	99					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGTGCCATGACGGCACTTA	0.617000													4	51					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565263	169565263	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169565263A>C	ENST00000263686.6	-	12	2038	c.2001T>G	c.(1999-2001)acT>acG	p.T667T	SELP_ENST00000367794.2_Silent_p.T605T|SELP_ENST00000367793.2_Silent_p.T605T|SELP_ENST00000458599.2_Silent_p.T483T|SELP_ENST00000367792.2_Silent_p.T483T|SELP_ENST00000367791.2_Silent_p.T481T|SELP_ENST00000367788.2_Silent_p.T605T|SELP_ENST00000367786.2_Silent_p.T605T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	667	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGTAACAAGTGGTATTAA	0.522000													36	427					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44071654	44071654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44071654G>T	ENST00000272286.2	+	2	162	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	24					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGGCCTCCAGGATAGATTGT	0.522000													14	19					1.52009e-12	1.91418e-12	1	1	0
MUC2	4583	broad.mit.edu	37	11	1090362	1090362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1090362G>A	ENST00000441003.2	+	27	3685	c.3658G>A	c.(3658-3660)Gtc>Atc	p.V1220I	MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1220						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCAAGTCGTCTGCAGGCC	0.657000													5	8					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60756575	60756575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60756575G>A	ENST00000395076.4	+	4	1434	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	PPM1A_ENST00000529574.1_Missense_Mutation_p.R335H|PPM1A_ENST00000325642.3_Missense_Mutation_p.R408H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	335					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R335H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGTGATGCGCACATTAGCG	0.433000													5	17					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31485987	31485987	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31485987G>T	ENST00000333137.7	+	7	992	c.774G>T	c.(772-774)gaG>gaT	p.E258D	SMTN_ENST00000358743.1_Missense_Mutation_p.E258D|SMTN_ENST00000347557.2_Missense_Mutation_p.E258D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	258	Pro-rich.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCACTGAGGGCCAGGTGG	0.642000													3	11					0.115264	0.117355	1	1	0
SMG7	9887	broad.mit.edu	37	1	183502407	183502407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183502407C>T	ENST00000367537.3	+	10	1234	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y	SMG7_ENST00000347615.2_Missense_Mutation_p.H318Y|SMG7_ENST00000456731.2_Missense_Mutation_p.H276Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H318Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H276Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H318Y			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	318					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACCGAGCAGCACACTTATAG	0.393000													7	242					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075971	3075971	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075971C>A	ENST00000326266.8	+	3	498	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	THOC6_ENST00000575576.1_Missense_Mutation_p.P44T|THOC6_ENST00000253952.9_Missense_Mutation_p.P68T|THOC6_ENST00000574549.1_Missense_Mutation_p.P44T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	68					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AAGTAAGAAGCCGGTGGTGAC	0.542000													19	134					1.45105e-14	1.85325e-14	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101793417	101793417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101793417G>T	ENST00000263468.8	+	2	444	c.174G>T	c.(172-174)caG>caT	p.Q58H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	58							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAGCGCCAGATATTACTGC	0.338000													21	26					8.10497e-08	9.61437e-08	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35616915	35616915	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35616915C>A	ENST00000287272.2	+	13	2054	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	UNC5D_ENST00000416672.1_Silent_p.T752T|UNC5D_ENST00000453357.2_Silent_p.T742T|UNC5D_ENST00000404895.2_Silent_p.T747T|UNC5D_ENST00000449677.1_Silent_p.T323T|UNC5D_ENST00000420357.1_Silent_p.T680T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	747					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAATACCTTTAGTCTTC	0.418000													62	92					1.31726e-23	1.74514e-23	1	1	0
TRIM17	51127	broad.mit.edu	37	1	228602720	228602720	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228602720G>T	ENST00000366697.2	-	1	1010	c.54C>A	c.(52-54)atC>atA	p.I18I	TRIM17_ENST00000366698.2_Silent_p.I18I|TRIM17_ENST00000295033.3_Silent_p.I18I|TRIM17_ENST00000456946.2_Silent_p.I18I			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	18					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AATCCAGACAGATGGAGCACG	0.587000													17	14					6.94344e-10	8.49476e-10	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77080732	77080732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77080732G>A	ENST00000579016.1	+	11	1555	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	519						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGGATGCCGGCAGCTGCCA	0.612000													34	46					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195916	195916	+	Missense_Mutation	SNP	C	C	T	rs137958651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:195916C>T	ENST00000398612.1	+	6	1452	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF596_ENST00000320552.2_Missense_Mutation_p.H287Y|ZNF596_ENST00000308811.4_Missense_Mutation_p.H357Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGCGAAGTCACAATGGAGA	0.408000													15	35					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58585554	58585554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58585554G>T	ENST00000317147.5	-	23	3472	c.3140C>A	c.(3139-3141)aCt>aAt	p.T1047N	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.T1042N|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1047N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1047					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTAGCAACAGTGGTAGTTGT	0.473000													12	127					7.03913e-09	8.47891e-09	1	1	0
PLA2G3	50487	broad.mit.edu	37	22	31531876	31531876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31531876G>A	ENST00000215885.3	-	7	1615	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	455					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAAGCCTCCGCAAGTGCCGG	0.582000													21	47					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16486802	16486802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486802C>T	ENST00000354981.2	-	8	890	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V245I|KIF16B_ENST00000355755.3_Missense_Mutation_p.V245I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	245	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTTACTGACGGTTTCACAT	0.438000													44	109					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108277	32108277	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32108277T>A	ENST00000327423.6	-	4	5737	c.5548A>T	c.(5548-5550)Agg>Tgg	p.R1850W	PRR14L_ENST00000397493.2_Missense_Mutation_p.R1850W|PRR14L_ENST00000434485.1_Missense_Mutation_p.R1850W	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1850										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATGAAGAGCCTCTGCATGGTA	0.527000													5	76					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46326922	46326922	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46326922T>C	ENST00000369367.3	-	9	959	c.726A>G	c.(724-726)ggA>ggG	p.G242G	SCAF11_ENST00000549162.1_Silent_p.G50G|SCAF11_ENST00000419565.2_Silent_p.G242G	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	242					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACCTTCCAATTCCAGGTAATG	0.333000													19	34					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233277	43233277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43233277G>A	ENST00000327495.5	-	5	1425	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	PSG3_ENST00000595140.1_Missense_Mutation_p.S414F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	414					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.468000													58	108					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142175310C>A	ENST00000519811.1	+	11	1545	c.1475C>A	c.(1474-1476)tCt>tAt	p.S492Y	DENND3_ENST00000424248.1_Missense_Mutation_p.S360Y|DENND3_ENST00000262585.2_Missense_Mutation_p.S412Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557000													40	50					3.43241e-23	4.54183e-23	1	1	0
JAK2	3717	broad.mit.edu	37	9	5050723	5050723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050723C>A	ENST00000381652.3	+	6	1000	c.506C>A	c.(505-507)cCt>cAt	p.P169H	JAK2_ENST00000539801.1_Missense_Mutation_p.P169H|JAK2_ENST00000544510.1_Missense_Mutation_p.P20H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	169	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATAAAAGTACCTGTGACTCAT	0.378000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				6	50					3.59834e-05	4.01776e-05	1	1	0
SULT1B1	27284	broad.mit.edu	37	4	70596338	70596338	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70596338A>C	ENST00000310613.2	-	7	956	c.659T>G	c.(658-660)aTc>aGc	p.I220S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTATCCAAGATCTCATCATT	0.358000													5	30					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756467	135756467	+	Missense_Mutation	SNP	G	G	A	rs141899370	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135756467G>A	ENST00000375845.3	-	5	445	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R156W|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ACTAAGGGCCGCATGGTCAGC	0.428000													28	40					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14797357	14797357	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14797357C>T	ENST00000403951.2	-	3	490		c.e3-1		DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000444700.2_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTGTAGAATCTATAAAAAAC	0.323000													14	44					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855332	79855332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79855332C>T	ENST00000338682.3	-	5	1179	c.507G>A	c.(505-507)atG>atA	p.M169I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	169						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCACAGGAGGCATATTTAAGT	0.438000													51	96					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12025566	12025566	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12025566C>T	ENST00000196061.4	+	14	1527	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	PLOD1_ENST00000376369.3_Silent_p.H547H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	500					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCGGCACACCCTTGGCC	0.667000													21	27					0	0	1	0	0
CTC-360G5.8	0	broad.mit.edu	37	19	39433383	39433383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433383G>A	ENST00000599996.1	-	5	414	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	FBXO17_ENST00000595329.1_Silent_p.H234H|SARS2_ENST00000448145.2_Silent_p.H69H|FBXO17_ENST00000292852.4_Silent_p.H234H																							TGGTGAAGACGTGGGAGACCT	0.602000													5	43					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11280725	11280725	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11280725C>T	ENST00000432929.2	-	11	2795	c.2436_splice	c.e11+1	p.R812_splice	KANK2_ENST00000589894.1_Splice_Site_p.R804_splice|KANK2_ENST00000589359.1_Splice_Site_p.R812_splice|KANK2_ENST00000586659.1_Splice_Site_p.R804_splice|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000355150.5_Splice_Site_p.R804_splice	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	804										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACGCGATCTGTGAG	0.642000													28	51					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112499372	112499372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112499372G>A	ENST00000230538.7	-	10	1537	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	LAMA4_ENST00000389463.4_Silent_p.H373H|LAMA4_ENST00000424408.2_Silent_p.H373H|LAMA4_ENST00000522006.1_Silent_p.H373H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	380	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTGACTTGCGTGGTTAATGG	0.373000													28	53					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158529800	158529800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158529800G>A	ENST00000251527.5	-	19	2484	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	ESYT2_ENST00000435514.2_Missense_Mutation_p.R242W	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	835	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTCCTGACCGCCTCTTGTCT	0.443000													6	161					0	0	1	0	0
ACTL10	170487	broad.mit.edu	37	20	32255536	32255536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32255536C>T	ENST00000330271.4	+	1	1233	c.233C>T	c.(232-234)aCa>aTa	p.T78I	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN	actin-like 10	78																	AAGGCCATCACACATCTCAAG	0.672000													12	15					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079850	29079850	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079850A>C	ENST00000377169.1	+	1	183	c.183A>C	c.(181-183)ccA>ccC	p.P61P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACACACCAATGTACTTCT	0.458000													11	227					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809279	148809279	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809279G>T	ENST00000378061.2	-	3	386	c.254C>A	c.(253-255)cCt>cAt	p.P85H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	85					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCATCAGTAGGAGGGCTAGT	0.373000													10	189					0.000442599	0.00048047	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114479	53114479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53114479G>T	ENST00000375442.4	+	5	1346	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	405					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGATAAAGAGAAAGAAGCAA	0.438000													4	33					0.00909568	0.00947522	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991967	21991967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21991967C>T	ENST00000594012.1	-	7	1368	c.854G>A	c.(853-855)tGt>tAt	p.C285Y	ZNF43_ENST00000598381.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.C291Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.C285Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGCTTTGGCACATTCTTTACA	0.358000													9	55					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126116	121126116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126116G>A	ENST00000273666.6	+	24	2957	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	STXBP5L_ENST00000471454.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V896M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V870M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V872M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	896					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAGGAGCTGTGCTAACATT	0.363000													21	47					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566375	33566375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33566375A>G	ENST00000321505.4	+	2	2125	c.1945A>G	c.(1945-1947)Aaa>Gaa	p.K649E	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.K655E|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K655E					KIAA1549-like																		GTTTCTGAGGAAATCAAGTCC	0.517000													11	17					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396878	43396878	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43396878C>A	ENST00000426263.3	-	3	293		c.e3-1		SLC2A1_ENST00000415851.2_Splice_Site|SLC2A1_ENST00000372500.3_Splice_Site	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTCGATCACCTGCAGGGGGA	0.622000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0.150653	0.152692	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153909042	153909042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153909042G>A	ENST00000361217.4	-	16	2833	c.2415C>T	c.(2413-2415)agC>agT	p.S805S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	805										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACCTTGCCGCTCTCCATCT	0.607000													8	9					0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13680768	13680768	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13680768T>C	ENST00000380600.1	+	2	228	c.141T>C	c.(139-141)gaT>gaC	p.D47D	TCEANC_ENST00000314720.4_Silent_p.D77D|TCEANC_ENST00000544987.1_Silent_p.D47D|TCEANC_ENST00000545566.1_Silent_p.D47D|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	47	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGAGACAGATGTGGTCAGAG	0.428000													8	78					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48374399	48374399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48374399C>T	ENST00000380518.3	-	39	2727	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	COL2A1_ENST00000337299.6_Missense_Mutation_p.G786S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	855	Triple-helical region.		G -> S (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCTGGCCGGCCTCTCCT	0.617000													5	6					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18643246	18643246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18643246A>G	ENST00000379989.3	+	18	2661		c.e18-1		CDKL5_ENST00000379996.3_Splice_Site	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATTTTGCTCTAGGTACCCAAT	0.458000													15	140					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63944624	63944624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63944624C>T	ENST00000443617.2	-	52	10494	c.10407G>A	c.(10405-10407)gtG>gtA	p.V3469V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3469					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCTGTTGAACACACAGGTCT	0.383000													10	14					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202718086	202718086	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202718086G>T	ENST00000367265.3	-	14	3167	c.2003C>A	c.(2002-2004)aCt>aAt	p.T668N	KDM5B_ENST00000367264.2_Missense_Mutation_p.T704N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	668					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTACGGACAGTTTCTCTTAA	0.358000													46	46					4.10826e-27	5.47827e-27	1	1	0
RNF213	57674	broad.mit.edu	37	17	78237505	78237505	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78237505G>A	ENST00000582970.1	+	2	168	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	RNF213_ENST00000508628.2_Missense_Mutation_p.V9I|RNF213_ENST00000456466.1_Missense_Mutation_p.V9I|RNF213_ENST00000319921.4_Missense_Mutation_p.V9I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	9										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCCAGCATGTCTCCAAGGA	0.612000													31	46					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572973	53572973	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53572973G>T	ENST00000601421.1	-	3	1582	c.706C>A	c.(706-708)Ctt>Att	p.L236I	ZNF160_ENST00000418871.1_Missense_Mutation_p.L272I|ZNF160_ENST00000599056.1_Missense_Mutation_p.L272I|ZNF160_ENST00000429604.1_Missense_Mutation_p.L272I			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	272					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGACTTGTAAGGTTCGAATTC	0.378000													8	130					9.70103e-10	1.18443e-09	1	1	0
GPHN	10243	broad.mit.edu	37	14	67579789	67579789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67579789C>T	ENST00000478722.1	+	16	2648	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	GPHN_ENST00000543237.1_Silent_p.H522H|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.H445H|GPHN_ENST00000315266.5_Silent_p.H476H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	476	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGGAACCCACATGGGCCCCT	0.463000			T	MLL	AL								37	31					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196431	56196431	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56196431G>T	ENST00000361673.3	-	6	5606	c.5393C>A	c.(5392-5394)cCt>cAt	p.P1798H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1798	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTGTTCAGGGAACATCTC	0.363000													35	53					2.09667e-21	2.75882e-21	1	1	0
ZNF280C	55609	broad.mit.edu	37	X	129370553	129370553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129370553G>T	ENST00000370978.4	-	7	707	c.554C>A	c.(553-555)aCt>aAt	p.T185N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	185	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTTTTGGAGTAACACTGTT	0.343000													7	83					1.06961e-07	1.26574e-07	1	1	0
MORN1	79906	broad.mit.edu	37	1	2318951	2318951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2318951G>A	ENST00000378531.3	-	4	438	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q89*	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	89										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGAACAAACTGTCCAGAGAAG	0.612000													17	44					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114467552	114467552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114467552C>T	ENST00000394779.3	-	17	2765	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	C9orf84_ENST00000318737.4_Missense_Mutation_p.D880N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D806N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D880N	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	880										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGTATGTCTGGAGTATTA	0.338000													11	43					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169183841	169183841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169183841C>T	ENST00000393743.3	-	23	3428	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACCTGGGCCCGAGGCCAACT	0.378000													35	68					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84865090	84865090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865090G>T	ENST00000403245.3	-	22	3035	c.2921C>A	c.(2920-2922)gCt>gAt	p.A974D	KIAA1009_ENST00000257766.4_Missense_Mutation_p.A898D|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	974					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCCAGATCAGCTTCTAGCTT	0.383000													16	48					6.31663e-08	7.49729e-08	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11891085	11891085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11891085C>T	ENST00000357901.4	+	4	548	c.446C>T	c.(445-447)gCt>gTt	p.A149V	ZNF441_ENST00000454339.2_Missense_Mutation_p.A82V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGGACAGCTTTCAGTTAT	0.388000													33	42					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24228932	24228932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24228932G>T	ENST00000379177.1	+	11	2284	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D	ZFX_ENST00000539115.1_Missense_Mutation_p.E390D|ZFX_ENST00000338565.3_Missense_Mutation_p.E569D|ZFX_ENST00000379188.3_Missense_Mutation_p.E619D|ZFX_ENST00000540034.1_Missense_Mutation_p.E658D|ZFX_ENST00000304543.5_Missense_Mutation_p.E619D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATACCAAAGAGGTGCAGCAAC	0.408000													40	68					2.2871e-25	3.04084e-25	1	1	0
AFF1	4299	broad.mit.edu	37	4	88036337	88036337	+	Silent	SNP	C	C	T	rs140176505	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036337C>T	ENST00000307808.6	+	11	2751	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	AFF1_ENST00000544085.1_Silent_p.P415P|AFF1_ENST00000395146.4_Silent_p.P784P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	777						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCAGCCTCCCGGGAAGGGGA	0.587000													11	22					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66845562	66845562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66845562C>T	ENST00000341509.5	-	9	1088	c.957G>A	c.(955-957)tcG>tcA	p.S319S	LCTL_ENST00000537670.1_Silent_p.S146S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	319					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGTAACCTCGACATCTCCA	0.423000													15	154					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420664	55420664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55420664G>T	ENST00000242994.3	+	2	819	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	147					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGACTGGCCAGACACCTGAAG	0.502000													23	43					5.35356e-11	6.64197e-11	1	1	0
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41228901G>A	ENST00000249749.5	+	9	1992	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	572					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587000													13	25					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265336	41265336	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41265336C>T	ENST00000243563.3	+	3	797	c.246_splice	c.e3-1	p.R83_splice	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	83	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			tgtTTGGTAGCGTATCCAGTA	0.532000													19	45					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648063	90648063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90648063G>A	ENST00000257749.4	-	8	2550	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	BACH2_ENST00000343122.3_Missense_Mutation_p.L615F|BACH2_ENST00000537989.1_Missense_Mutation_p.L615F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	615						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAAAGGAAGTTTTACCTGA	0.353000													22	30					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	592614	592614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:592614A>G	ENST00000264555.5	+	6	688	c.560A>G	c.(559-561)gAg>gGg	p.E187G	PHRF1_ENST00000416188.2_Missense_Mutation_p.E187G|PHRF1_ENST00000533464.1_Missense_Mutation_p.E183G|PHRF1_ENST00000413872.2_Missense_Mutation_p.E186G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	187							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCTTCTGTGAGGTGTGCGGC	0.627000													7	135					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56141896	56141896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56141896G>T	ENST00000434526.2	+	4	457	c.426G>T	c.(424-426)aaG>aaT	p.K142N	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.K142N|SUMF2_ENST00000413756.1_Missense_Mutation_p.K123N|SUMF2_ENST00000275607.9_Missense_Mutation_p.K35N|SUMF2_ENST00000437307.2_Missense_Mutation_p.K123N|SUMF2_ENST00000395436.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	123						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGGAAAAGGCATTTTGGA	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	184					0.00010058	0.000111121	1	1	0
TRMU	55687	broad.mit.edu	37	22	46733779	46733779	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46733779G>T	ENST00000290846.4	+	2	526	c.186G>T	c.(184-186)caG>caT	p.Q62H	TRMU_ENST00000381019.3_Missense_Mutation_p.Q62H|TRMU_ENST00000424260.2_Missense_Mutation_p.Q27H	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	62						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GAGTTTGCCAGATCTTAGACA	0.478000													9	95					0.000442599	0.00048047	1	1	0
TEAD1	7003	broad.mit.edu	37	11	12901223	12901223	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12901223T>C	ENST00000526600.1	+	1	234	c.11T>C	c.(10-12)gTa>gCa	p.V4A	TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361985.2_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCGTTATGTATTAAGTTGG	0.507000													13	26					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437669	122437669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122437669G>T	ENST00000474629.2	+	14	4937	c.4671G>T	c.(4669-4671)gaG>gaT	p.E1557D	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1557	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAAATTAGAGGATGCAAGGA	0.378000													8	92					0.000157383	0.00017284	1	1	0
PRPS2	5634	broad.mit.edu	37	X	12828249	12828249	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828249G>A	ENST00000380668.5	+	4	642	c.514G>A	c.(514-516)Gca>Aca	p.A172T	PRPS2_ENST00000489404.1_Missense_Mutation_p.A172T|PRPS2_ENST00000398491.2_Missense_Mutation_p.A175T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	172					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTCACCTGACGCAGGGGGAGC	0.463000													34	59					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898420	50898420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898420C>T	ENST00000380817.2	-	26	3635	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	SBF1_ENST00000390679.3_Missense_Mutation_p.R1151H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1152H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1151	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGAAATGCGGAAGGGCTC	0.667000													9	51					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186969454	186969454	+	Missense_Mutation	SNP	C	C	T	rs142112097	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186969454C>T	ENST00000337774.5	-	7	1368	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	MASP1_ENST00000392470.2_Missense_Mutation_p.V301I|MASP1_ENST00000392472.2_Missense_Mutation_p.V214I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.V327I|MASP1_ENST00000296280.6_Missense_Mutation_p.V327I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	327	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCACAGCTGACGAGCACTTGG	0.552000													6	104					0	0	1	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803831	67803831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67803831G>A	ENST00000313468.5	+	6	591	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	NDUFS8_ENST00000528492.1_Missense_Mutation_p.V16M	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	162	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGCCTGTCCCGTGGATGCCAT	0.667000													9	20					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86592687	86592687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86592687C>T	ENST00000376263.3	-	4	296	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	HNRNPK_ENST00000360384.5_Missense_Mutation_p.E25K|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E25K|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E25K	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	25	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCCATATCTTCTGCAGGGCGT	0.358000													3	51					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051595	96051595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96051595G>A	ENST00000297954.4	+	20	4670	c.4670G>A	c.(4669-4671)gGg>gAg	p.G1557E	WNK2_ENST00000349097.3_Missense_Mutation_p.G1169E|WNK2_ENST00000395477.2_Missense_Mutation_p.G1520E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1132E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1557					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCCCTGGGGCCCACCGTC	0.721000													4	3					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56601046	56601046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56601046T>C	ENST00000394672.3	+	6	849	c.779T>C	c.(778-780)tTg>tCg	p.L260S	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000538560.1_Missense_Mutation_p.L260S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L260S|CCDC66_ENST00000326595.7_Missense_Mutation_p.L226S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	260										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGTTCGTTGGAAGCAAAA	0.373000													17	98					0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	641146	641146	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:641146C>T	ENST00000308278.8	+	3	503	c.267C>T	c.(265-267)taC>taT	p.Y89Y	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Silent_p.Y89Y	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	89	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ATGACTCGTACGCCATGTACC	0.502000													45	96					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128917	38128917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128917C>A	ENST00000399120.1	-	11	3165	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	HLCS_ENST00000336648.3_Missense_Mutation_p.E645D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	645					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGATCAGTTTCTCCAGCACAG	0.478000													52	80					3.21867e-24	4.26874e-24	1	1	0
IGKV1-12	0	broad.mit.edu	37	2	89340006	89340006	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89340006G>A	ENST00000480492.1	-	0	112																											TCTGGATGTCGCATCTGGAAC	0.458000													63	159					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	G	A	rs143040607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44581339G>A	ENST00000322927.2	-	19	2812	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_ENST00000426788.1_Silent_p.P749P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572000													26	34					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	479971	479971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:479971C>T	ENST00000264938.3	-	10	1636	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.A534T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	543						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGCTGATGGCATCCTTCAGG	0.617000													27	31					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306234	27306234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27306234G>A	ENST00000380320.4	+	4	2294	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	599					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGGATGGTGTGGAGCGCTG	0.697000													15	39					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436260	24436260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436260G>T	ENST00000383168.4	-	5	1015	c.887C>A	c.(886-888)cCt>cAt	p.P296H	AQP4_ENST00000440832.3_Missense_Mutation_p.P274H|AQP4_ENST00000581374.1_Missense_Mutation_p.P274H|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	296				P -> L (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CACCACTCCAGGTTTTAGAAT	0.488000													22	196					2.89027e-11	3.59474e-11	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166847988	166847988	+	Nonsense_Mutation	SNP	G	G	A	rs146304578	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166847988G>A	ENST00000423058.2	-	26	5814	c.5797C>T	c.(5797-5799)Cga>Tga	p.R1933*	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1905*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1922*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1933*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1933						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1922*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTACAGTTCGCTTTAAAAGG	0.358000													33	50					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694208	99694208	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694208G>T	ENST00000354649.3	+	2	936	c.221G>T	c.(220-222)aGt>aTt	p.S74I	NUTM2G_ENST00000372322.3_Missense_Mutation_p.S74I|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		CGCGGCCCAAGTGGGGCTGGG	0.652000													9	15					5.68852e-11	7.05143e-11	1	1	0
TMEM38A	79041	broad.mit.edu	37	19	16791393	16791393	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16791393G>T	ENST00000187762.2	+	3	557		c.e3+1			NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A							integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGGGTCAAAGGTAAATAGGAT	0.532000													7	38					8.12818e-05	8.99451e-05	1	1	0
CPA6	57094	broad.mit.edu	37	8	68430256	68430256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68430256G>A	ENST00000297770.4	-	3	434	c.219C>T	c.(217-219)atC>atT	p.I73I	CPA6_ENST00000518549.1_Silent_p.I73I|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	73					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATACATAGGAGATACTGCTGG	0.478000													7	65					0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107216719	107216719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:107216719C>T	ENST00000496714.1	-	7	991	c.790G>A	c.(790-792)Gtt>Att	p.V264I	FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	665										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AAGCAAACAACTTGATAGTCA	0.383000													29	56					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12822220	12822220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12822220C>T	ENST00000425528.1	-	12	1364	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	TNPO2_ENST00000356861.5_Missense_Mutation_p.R336H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336H|TNPO2_ENST00000441499.1_Missense_Mutation_p.R336H|TNPO2_ENST00000592287.1_Missense_Mutation_p.R336H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336H			O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617000													26	66					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68725634	68725634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68725634G>A	ENST00000264012.4	+	13	2351	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	CDH3_ENST00000429102.2_Missense_Mutation_p.V603I|CDH3_ENST00000581171.1_Missense_Mutation_p.V548I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGACACAGTGGTCTTGTCCCT	0.498000													30	37					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532000													35	36					0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86707051	86707051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86707051C>T	ENST00000508855.1	-	1	60	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000256897.4_Missense_Mutation_p.R77K|CCNH_ENST00000504878.1_Missense_Mutation_p.R3K			P51946	CCNH_HUMAN	cyclin H	77					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	p.R77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					50	73					0	0	1	0	0
HSFY1P1	0	broad.mit.edu	37	22	17308627	17308627	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17308627C>A	ENST00000425038.1	+	0	264					NR_003607.1																						CCACATTATACTTTATGTCTC	0.368000													4	12					0.150653	0.152692	1	1	0
SACS	26278	broad.mit.edu	37	13	23911012	23911012	+	Missense_Mutation	SNP	T	T	C	rs143414642	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911012T>C	ENST00000382298.3	-	10	7591	c.7003A>G	c.(7003-7005)Atg>Gtg	p.M2335V	SACS_ENST00000382292.3_Missense_Mutation_p.M2335V|SACS_ENST00000402364.1_Missense_Mutation_p.M1585V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2335					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATTGACATCTTAGTGATT	0.338000													8	82					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049446	9049446	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9049446C>A	ENST00000397910.4	-	5	32388	c.32185G>T	c.(32185-32187)Gtc>Ttc	p.V10729F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10731	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGTGAGACAGTCATAATT	0.458000													68	132					1.85257e-25	2.46364e-25	1	1	0
EPHA1	2041	broad.mit.edu	37	7	143088766	143088766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143088766G>A	ENST00000275815.3	-	17	2885	c.2799C>T	c.(2797-2799)caC>caT	p.H933H		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGAGTGGAAGTGCAGGATGT	0.612000													4	39					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47087293	47087293	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47087293C>A	ENST00000374312.1	+	3	929	c.510C>A	c.(508-510)ctC>ctA	p.L170L	NPY4R_ENST00000395716.1_Silent_p.L170L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCTGTGTCCTCTCCCTGCCCT	0.562000													6	99					3.59834e-05	4.01776e-05	1	1	0
FAM222B	55731	broad.mit.edu	37	17	27086078	27086078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27086078C>T	ENST00000341217.5	-	3	1114	c.899G>A	c.(898-900)cGc>cAc	p.R300H	FAM222B_ENST00000452648.3_Missense_Mutation_p.R300H|FAM222B_ENST00000581407.1_Missense_Mutation_p.R300H|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	300																	GAGCAGACTGCGACTAATGGG	0.597000													6	8					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753421	7753421	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753421T>C	ENST00000254846.5	+	13	3988	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A	KDM6B_ENST00000448097.2_Missense_Mutation_p.V1200A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1200					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCTCACCTGTCCTGCTGCAG	0.612000													15	19					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464695	25464695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25464695G>A	ENST00000376351.3	+	1	705	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAGCCCTGGCCAGCGCGCA	0.657000													28	39					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3513958	3513958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3513958G>A	ENST00000225519.3	-	7	1435	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	445					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAAGCCCTCTGCACCTCCTGC	0.602000													27	87					0	0	1	0	0
RHOC	389	broad.mit.edu	37	1	113244177	113244177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113244177G>A	ENST00000369636.2	-	5	555	c.506C>T	c.(505-507)gCt>gTt	p.A169V	RHOC_ENST00000369642.3_Silent_p.G189G|RHOC_ENST00000369632.2_Silent_p.G189G|RHOC_ENST00000369633.2_Silent_p.G189G|RHOC_ENST00000339083.7_Silent_p.G189G|RHOC_ENST00000285735.2_Silent_p.G189G|RHOC_ENST00000369637.1_Silent_p.G189G|RHOC_ENST00000369638.2_Silent_p.G189G			P08134	RHOC_HUMAN	ras homolog family member C	0					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGACAGCCCCTCCGAC	0.602000													29	41					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126178581	126178581	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178581C>A	ENST00000389709.3	-	7	2181		c.e7-1			NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C						positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCCACTTTCCTGAGACCAAA	0.507000													27	226					2.70662e-09	3.28559e-09	1	1	0
TECTA	7007	broad.mit.edu	37	11	120998824	120998824	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120998824G>A	ENST00000392793.1	+	9	2409	c.2138G>A	c.(2137-2139)tGc>tAc	p.C713Y	TECTA_ENST00000264037.2_Missense_Mutation_p.C713Y			O75443	TECTA_HUMAN	tectorin alpha	713	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGACCGTGTGCCTGCTCAGC	0.662000													27	36					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309831	6309831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6309831C>T	ENST00000301452.4	-	4	442	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	122						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGACCAGGCGGATGAACTG	0.612000													14	21					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94224008	94224008	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94224008C>A	ENST00000323929.3	-	3	366	c.144G>T	c.(142-144)caG>caT	p.Q48H	MRE11A_ENST00000323977.3_Missense_Mutation_p.Q48H|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q51H|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q48H|MRE11A_ENST00000540013.1_Missense_Mutation_p.Q48H|MRE11A_ENST00000536144.1_5'UTR	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	48					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTTTCCTGGGCAAGTC	0.333000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				35	78					1.03484e-13	1.31453e-13	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71199843	71199843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71199843C>T	ENST00000554752.2	-	11	2242	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R476H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R725H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R762H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R481H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	748					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCTCGCAGCGGCGGTGGTG	0.652000													6	45					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349795	65349795	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65349795C>A	ENST00000284037.5	+	21	3038	c.2649C>A	c.(2647-2649)atC>atA	p.I883I	ERBB2IP_ENST00000380938.2_Silent_p.I883I|ERBB2IP_ENST00000380939.2_Silent_p.I883I|ERBB2IP_ENST00000511297.1_Silent_p.I879I|ERBB2IP_ENST00000380936.1_Silent_p.I883I|ERBB2IP_ENST00000380943.2_Silent_p.I883I|ERBB2IP_ENST00000506030.1_Silent_p.I883I|ERBB2IP_ENST00000380935.1_Silent_p.I883I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Silent_p.I883I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	883					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCTAAAAATCTATGATATTC	0.403000													20	950					0.00400662	0.00423533	1	1	0
AKR1E2	83592	broad.mit.edu	37	10	4884652	4884652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4884652A>G	ENST00000298375.7	+	8	864	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	AKR1E2_ENST00000334019.4_Missense_Mutation_p.I208V|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I208V|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I167V|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	265						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGTGATAGTGATCCCCGGATC	0.393000													47	69					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70515339	70515339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70515339T>C	ENST00000323786.5	-	18	2179	c.2158A>G	c.(2158-2160)Acc>Gcc	p.T720A		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	716	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GTCACCGTGGTAAGGTAGGCA	0.597000													6	110					0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114298078	114298078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114298078C>T	ENST00000393077.2	+	5	532	c.416C>T	c.(415-417)gCa>gTa	p.A139V	VTI1A_ENST00000432306.1_Missense_Mutation_p.A139V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	139					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TACCAAATAGCAGTGGAAACC	0.438000			T	TCF7L2	colorectal								27	61					0	0	1	0	0
AC093838.4	0	broad.mit.edu	37	2	132276629	132276629	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132276629C>T	ENST00000438378.2	+	0	1949					NR_026922.1																						GCAGGTCCTGCGCCTCGCTCA	0.642000													13	11					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153303537	153303537	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153303537C>T	ENST00000296555.5	-	0	130				FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATACAGGCACATTACTAAAA	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								11	18					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841751	157841751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157841751G>A	ENST00000464171.1	+	3	416	c.291G>A	c.(289-291)caG>caA	p.Q97Q	RSRC1_ENST00000295930.3_Silent_p.Q97Q|RSRC1_ENST00000312179.6_Silent_p.Q97Q|RSRC1_ENST00000475278.2_Silent_p.Q97Q|RSRC1_ENST00000480820.1_Silent_p.Q97Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	97	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATAGAGTTCAGAGGTCTAGGT	0.413000													17	42					0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863415	30863415	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30863415A>T	ENST00000309052.4	+	7	1384	c.1175A>T	c.(1174-1176)gAg>gTg	p.E392V	LCLAT1_ENST00000379509.3_Missense_Mutation_p.E354V|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E354V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	392					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTGGACTGGAGATCATAGAA	0.343000													5	105					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20108498	20108498	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20108498A>G	ENST00000395530.2	+	2	1101	c.893A>G	c.(892-894)aAg>aGg	p.K298R	SPECC1_ENST00000395522.2_Missense_Mutation_p.K298R|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.K379R|SPECC1_ENST00000395529.3_Missense_Mutation_p.K379R|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.K379R|SPECC1_ENST00000395525.3_Missense_Mutation_p.K298R	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	379	Ser-rich.					nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGATACAAAAGATGGAAGAA	0.433000													7	102					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926933	130926933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130926933G>T	ENST00000261655.4	-	8	1076	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.L213I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.L213I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	305	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTTTGATGAGGGTGATTTTT	0.567000													41	74					6.68952e-21	8.79032e-21	1	1	0
C1orf106	55765	broad.mit.edu	37	1	200869240	200869240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200869240G>A	ENST00000367342.4	+	4	644	c.444G>A	c.(442-444)acG>acA	p.T148T	C1orf106_ENST00000413687.2_Silent_p.T63T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	148										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGAGCTGACGGGCACCTTGC	0.622000													7	10					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10131982	10131982	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10131982A>C	ENST00000304361.4	+	3	420	c.238A>C	c.(238-240)Aac>Cac	p.N80H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.N47H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.N80H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N90H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	80						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAAACTACAAAACATCAGTGA	0.333000													7	11					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108913404	108913404	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108913404T>G	ENST00000276659.5	-	6	1251	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.K147Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K144Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.K147Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	211					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tccttcgccttTGGTGTTCTC	0.423000													14	22					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151791759	151791759	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151791759C>A	ENST00000535741.1	-	20	2841		c.e20-1		LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000510413.1_Splice_Site			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTATAAGAATCTACAGAAGTA	0.313000													5	62					0.000602214	0.000649039	1	1	0
POGZ	23126	broad.mit.edu	37	1	151400673	151400673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151400673G>A	ENST00000271715.2	-	6	1099	c.785C>T	c.(784-786)aCa>aTa	p.T262I	POGZ_ENST00000392723.1_Missense_Mutation_p.T209I|POGZ_ENST00000491586.1_Missense_Mutation_p.T209I|POGZ_ENST00000361398.3_Missense_Mutation_p.T209I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.T167I|POGZ_ENST00000531094.1_Missense_Mutation_p.T209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T262I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	262					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGGCTGTGTGGCAGTGGG	0.577000													9	51					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372045	115372045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115372045G>A	ENST00000369358.4	-	30	3714	c.3470C>T	c.(3469-3471)gCa>gTa	p.A1157V	NRAP_ENST00000360478.3_Missense_Mutation_p.A1114V|NRAP_ENST00000359988.3_Missense_Mutation_p.A1149V|NRAP_ENST00000369360.3_Missense_Mutation_p.A1122V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1149						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGTCTTCTGCCAAGGAAGT	0.562000													33	44					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233088	55233088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55233088C>T	ENST00000275493.2	+	15	2015	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	EGFR_ENST00000344576.2_Missense_Mutation_p.A613V|EGFR_ENST00000342916.3_Missense_Mutation_p.A613V|EGFR_ENST00000454757.2_Missense_Mutation_p.A560V|EGFR_ENST00000442591.1_Missense_Mutation_p.A613V|EGFR_ENST00000455089.1_Missense_Mutation_p.A568V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	613					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGCAGACGCCGGCCATGTG	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	55					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34173933G>A	ENST00000588240.1	+	16	1878	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	TAF15_ENST00000592237.1_Missense_Mutation_p.A393T|TAF15_ENST00000311979.3_Missense_Mutation_p.R585H	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	588	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								32	51					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217535	122217535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122217535G>A	ENST00000267205.2	-	5	1133	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	169					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCCAGGTAGAGAGCAGCTCGG	0.642000													21	62					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382809	32382809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32382809C>A	ENST00000357033.4	-	36	5250	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1678*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1682	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAAGTTTCCATGTGTTTC	0.348000													35	61					3.11337e-16	4.01248e-16	1	1	0
MLH1	4292	broad.mit.edu	37	3	37056036	37056036	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37056036G>A	ENST00000231790.2	+	9	1006		c.e9+1		MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.?(8)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCATCAACCGTAAGTTAAAA	0.378000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	17					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496681	9496681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9496681G>A	ENST00000246070.2	+	3	764	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	91						integral to membrane											GCATTGACCCGGGGAGCTGAG	0.632000													7	9					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151203944	151203944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151203944G>A	ENST00000367321.3	+	5	738	c.464G>A	c.(463-465)gGc>gAc	p.G155D	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.G155D	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	155	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGAGTACATGGCCTTGCCCTT	0.318000													8	19					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892506	892506	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:892506C>T	ENST00000327044.6	-	3	376	c.327G>A	c.(325-327)ccG>ccA	p.P109P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	109						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGAGTGGAACGGCCCCTCTT	0.577000													58	81					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936295	111936295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111936295G>A	ENST00000305815.5	-	15	2036	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P547L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	595					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTACTTTGATGGGCCCTCTTT	0.289000													21	51					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741209	139741209	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741209G>A	ENST00000436881.1	+	1	2343	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	781										endometrium(2)|large_intestine(1)|lung(6)	9						CCTACCTATCGCTGCGTGAGC	0.697000													5	6					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89619481	89619481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89619481G>A	ENST00000268704.2	+	14	1889	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	625					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTTTGAGCGGATGTGCATG	0.627000													6	14					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68133048	68133048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68133048G>A	ENST00000294304.7	+	5	999	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	298	EGF-like 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCACACTCGCTGTGAGGAG	0.592000													69	96					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625255	55625255	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55625255C>A	ENST00000370830.3	-	5	1802	c.1104_splice	c.e5+1	p.Q368_splice	BMP5_ENST00000446683.2_Splice_Site_p.Q368_splice	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	368					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATTCCTACCTGCCATCCCA	0.358000													9	49					9.70103e-10	1.18443e-09	1	1	0
PROM2	150696	broad.mit.edu	37	2	95953982	95953982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95953982C>T	ENST00000317620.9	+	21	2401	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	PROM2_ENST00000317668.4_Silent_p.C756C|PROM2_ENST00000403131.2_Silent_p.C756C|PROM2_ENST00000542147.1_Silent_p.C707C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	756						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGCCACCTGCCAGCCCCTCT	0.607000													14	41					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300220	62300220	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62300220G>T	ENST00000378024.4	-	5	1943	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	557					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTGCCAAGCCTAGGGCCT	0.512000													56	93					1.0442e-30	1.39955e-30	1	1	0
MTPAP	55149	broad.mit.edu	37	10	30611540	30611540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30611540G>T	ENST00000358107.4	-	7	1388	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.A333A			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	333	PAP-associated.				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AACTTGTCAAGGCAATCCTTC	0.373000													7	23					0.00198382	0.00210581	1	1	0
ARRDC5	645432	broad.mit.edu	37	19	4891208	4891208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4891208G>A	ENST00000381781.2	-	3	878	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	293					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGACCAGCTCGTAGCGAGTGT	0.607000													65	91					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736941	81736941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81736941G>A	ENST00000267540.2	-	5	2886	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	896					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGCTAAAAGGAATAAGAGG	0.468000													30	49					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856301	53856301	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856301A>G	ENST00000458035.1	+	4	2490	c.2373A>G	c.(2371-2373)gcA>gcG	p.A791A	ZNF845_ENST00000595091.1_Silent_p.A791A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CACACCTGGCACAACATACTA	0.403000													13	15					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120173114	120173114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120173114C>T	ENST00000392521.2	-	25	3062	c.3007G>A	c.(3007-3009)Gct>Act	p.A1003T	CIT_ENST00000261833.7_Missense_Mutation_p.A961T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	961					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGTTCAGCGTTGTCCTCG	0.463000													29	60					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104722214	104722214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104722214C>T	ENST00000334877.4	+	13	1862	c.1328C>T	c.(1327-1329)aCt>aTt	p.T443I	KMT2E_ENST00000311117.3_Missense_Mutation_p.T443I|KMT2E_ENST00000257745.4_Missense_Mutation_p.T443I|KMT2E_ENST00000476671.1_Missense_Mutation_p.T443I|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ACTGAAATTACTATTGCCTTT	0.294000													13	155					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189415	44189415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44189415G>A	ENST00000403799.3	-	6	1092	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GCK_ENST00000437084.1_Missense_Mutation_p.A191V|GCK_ENST00000395796.3_Missense_Mutation_p.A207V|GCK_ENST00000345378.2_Missense_Mutation_p.A209V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	208					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCATCGTGGCCACCGTGTC	0.567000													20	74					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603623	101603623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101603623C>A	ENST00000536262.2	-	1	562	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	2					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGTGGCGTGTCCATGGCCGCA	0.706000													4	6					0.014758	0.0152625	1	1	0
DAPK2	23604	broad.mit.edu	37	15	64231494	64231494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64231494G>T	ENST00000261891.3	-	4	525	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	DAPK2_ENST00000457488.1_Missense_Mutation_p.L174M|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.L174M			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	174	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGAGCCAGACCAAAGTCA	0.368000													34	62					2.19358e-23	2.90382e-23	1	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887615	12887615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887615G>A	ENST00000535591.1	-	3	437	c.242C>T	c.(241-243)gCc>gTc	p.A81V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	81										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCACCCATGGGCCATAGCTTC	0.483000													88	133					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680281	114680281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680281G>A	ENST00000393296.1	-	3	984	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SYT6_ENST00000369547.1_Missense_Mutation_p.P218S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	303	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCATAGGGCACAGGGAAG	0.567000													10	32					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155152225	155152225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155152225G>A	ENST00000392451.2	+	9	1524	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.A488T|TRIM46_ENST00000368383.3_Missense_Mutation_p.R468H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R445H|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342H			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	169	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTCCGGCGCACGGATGTG	0.652000													8	17					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35234240	35234240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35234240C>T	ENST00000360310.1	-	22	4103	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1147Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1179Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1179					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGCTTTGGTCGAACACAGTA	0.358000													23	39					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355633	33355633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33355633G>A	ENST00000023064.4	-	3	328	c.137C>T	c.(136-138)tCt>tTt	p.S46F	SLC7A9_ENST00000587772.1_Missense_Mutation_p.S46F|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S46F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	46					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATCCCAGAGCCAATGAT	0.632000													30	94					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154459139	154459139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154459139G>A	ENST00000304760.2	-	4	1131	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	349										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAAGGTCGCTCAGCTCCT	0.547000													33	41					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698269	17698269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17698269C>T	ENST00000399080.2	-	1	1437	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	472										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTATTAAAGCTGTCTGACTA	0.348000													3	29					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933491	29933491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29933491C>T	ENST00000431530.3	+	6	3086	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1000	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGTGCTGCGGCTGAAGGA	0.657000													5	2					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602548	48602548	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602548C>A	ENST00000340553.3	+	7	1523	c.1262C>A	c.(1261-1263)gCa>gAa	p.A421E		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	421					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATAAGTACTGCAAAGACACAA	0.383000													9	14					0.000274275	0.000298791	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137717216	137717216	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137717216C>T	ENST00000314358.5	+	6	917	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGGTGAGATCAAGTCGGTAG	0.383000													20	52					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131898769	131898769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131898769A>G	ENST00000337738.1	+	8	952	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	PPP2R4_ENST00000348141.5_Missense_Mutation_p.K200E|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K194E|PPP2R4_ENST00000355007.3_Missense_Mutation_p.K152E|PPP2R4_ENST00000452489.2_Missense_Mutation_p.K229E|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K194E|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K165E|PPP2R4_ENST00000347048.4_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	229					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGTTATGCGGAAACTCCAGAA	0.542000													96	168					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90993001	90993001	+	Silent	SNP	G	G	A	rs137857529	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90993001G>A	ENST00000265433.3	-	4	595	c.441C>T	c.(439-441)tgC>tgT	p.C147C	NBN_ENST00000409330.1_Silent_p.C65C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	147	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGGTGAGTGCATTCTTCTG	0.338000								Homologous recombination					7	74					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.670_splice	c.e6-1	p.A224_splice	MPI_ENST00000566377.1_Splice_Site_p.A224_splice|MPI_ENST00000562606.1_Splice_Site_p.A204_splice|MPI_ENST00000564003.1_Splice_Site_p.T113_splice|MPI_ENST00000563422.1_Splice_Site_p.A224_splice|MPI_ENST00000323744.6_Splice_Site_p.T163_splice|MPI_ENST00000535694.1_Splice_Site_p.A174_splice|MPI_ENST00000563786.1_Splice_Site_p.A204_splice			P34949	MPI_HUMAN	mannose phosphate isomerase	224					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557000													28	32					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671996	77671996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77671996T>C	ENST00000407578.2	-	56	9559	c.9293A>G	c.(9292-9294)aAt>aGt	p.N3098S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3060S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3060S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTAAACATATTCAGTGCAGA	0.353000													29	67					0	0	1	0	0
GPR89B	51463	broad.mit.edu	37	1	147408777	147408777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147408777C>T	ENST00000314163.7	+	2	223	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	27					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					TTTCTTCATGCGCCAATTGTT	0.299000													48	55					0	0	1	0	0
LSM3	27258	broad.mit.edu	37	3	14239546	14239546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14239546G>A	ENST00000306024.3	+	4	742	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCAACGAAACGGAATATTCCA	0.393000													18	34					0	0	1	0	0
LINC00842	0	broad.mit.edu	37	10	47133673	47133673	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47133673C>A	ENST00000422732.2	-	0	435					NR_033957.1																						ctgaaaccacctccacgacca	0.512000													12	72					3.27435e-08	3.90559e-08	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383000													17	23					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720628	121720628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121720628C>A	ENST00000273691.3	-	4	568	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.G155*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.G167*	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCGGGGTCTCCTGATGTGTCC	0.488000													47	79					3.86361e-14	4.92368e-14	1	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028593	59028593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028593G>A	ENST00000594051.1	-	2	928	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R150C|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R150C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	150	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGGCGGTGACGCAGCTGCGCA	0.741000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	12					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073511	197073511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197073511T>C	ENST00000367409.4	-	18	5126	c.4870A>G	c.(4870-4872)Aaa>Gaa	p.K1624E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1624					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTAGAACTTTCATGGCAAAA	0.393000													14	107					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492884	19492884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19492884C>A	ENST00000328405.2	+	10	2079	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	605						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCATGGTGCTGGCTATTCT	0.448000													41	45					6.45866e-13	8.15743e-13	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187693297	187693297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693297C>T	ENST00000295131.2	-	9	1355	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	439					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGTAAAATTCCAAGTCTATT	0.333000													28	44					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952370	141952370	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952370G>A	ENST00000552471.1	-	4	817	c.498C>T	c.(496-498)cgC>cgT	p.R166R	PRSS58_ENST00000547058.2_Silent_p.R166R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	166	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATAGGCATCGCGACACTGAG	0.428000													22	158					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204729	72204729	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:72204729T>C	ENST00000305425.4	-	3	1513	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.H364R|DACH1_ENST00000359684.2_Missense_Mutation_p.H364R	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	362	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTGCTCCATGTTGGTTATT	0.398000													81	159					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712240	10712240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10712240C>A	ENST00000345985.3	-	20	1984	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V	NOL10_ENST00000538384.1_Missense_Mutation_p.G649V|NOL10_ENST00000381685.5_Missense_Mutation_p.G675V|NOL10_ENST00000542668.1_Missense_Mutation_p.G625V	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	675						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTCAGGTGTCCGGCCGAACG	0.473000													89	125					4.98208e-43	6.72557e-43	1	1	0
WBP11P1	0	broad.mit.edu	37	18	30092841	30092841	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30092841G>T	ENST00000567636.1	+	0	1216					NR_003558.1																						GGGAAGTAGAGGAATTTTCAG	0.418000													4	60					1	1	1	1	0
VPS36	51028	broad.mit.edu	37	13	53008987	53008987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53008987G>A	ENST00000378060.4	-	5	409	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	128	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTCTTTGTGTCATTTCC	0.333000													84	78					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869749	103869749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103869749G>A	ENST00000361198.5	-	7	1092	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LDB1_ENST00000425280.1_Missense_Mutation_p.R193W	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	193					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R157W(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCTTTATCCGCATCATGTCG	0.587000													17	23					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56918203	56918203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56918203G>T	ENST00000370733.4	+	4	1113	c.906G>T	c.(904-906)aaG>aaT	p.K302N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.K275N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	302							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAAGATGAAGATATTTAAGA	0.313000													19	28					7.41877e-09	8.93215e-09	1	1	0
MRVI1	10335	broad.mit.edu	37	11	10615119	10615119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10615119C>T	ENST00000547195.1	-	16	2322	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.A699T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A691T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.A384T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A608T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.A690T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A384T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A672T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A384T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A608T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A493T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	672					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAACCACAGCAACGCTGACC	0.517000													23	31					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	rs142728357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111464190G>A	ENST00000265162.5	+	13	2306	c.1964G>A	c.(1963-1965)cGt>cAt	p.R655H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328000													47	56					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137261	140137261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140137261C>T	ENST00000340384.4	+	4	739	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	197					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										AAAACACAGACGAGACCTACT	0.527000													11	65					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158601151	158601151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158601151C>T	ENST00000424310.2	-	6	996	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	RNF145_ENST00000519865.1_Missense_Mutation_p.G213S|RNF145_ENST00000518802.1_Missense_Mutation_p.G243S|RNF145_ENST00000521606.2_Missense_Mutation_p.G230S|RNF145_ENST00000520638.1_Missense_Mutation_p.G227S|RNF145_ENST00000274542.2_Missense_Mutation_p.G241S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	213						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGAGAAGGCCATATACCTCC	0.383000													16	26					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22039067G>A	ENST00000406385.1	+	10	639	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000335025.7_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	193					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547000													11	26					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8609139	8609139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8609139C>T	ENST00000382480.2	+	7	1603	c.803C>T	c.(802-804)aCg>aTg	p.T268M	CPZ_ENST00000360986.4_Missense_Mutation_p.T405M|CPZ_ENST00000315782.6_Missense_Mutation_p.T394M|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	405					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTTCTCCCACGCCCGACGAG	0.632000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	1	0	0
LINC00696	0	broad.mit.edu	37	3	52097332	52097332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52097332G>T	ENST00000541313.1	-	1	235	c.236C>A	c.(235-237)tCt>tAt	p.S79Y																								TTCCATGACAGAGATGGCTAA	0.537000													8	187					1.33987e-11	1.67317e-11	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790517	133790517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133790517G>A	ENST00000321016.8	-	18	3333	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1035C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1035	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCGCCCTCCTGTA	0.662000													36	53					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118361992	118361992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118361992G>A	ENST00000534358.1	+	14	4801	c.4778G>A	c.(4777-4779)cGc>cAc	p.R1593H	KMT2A_ENST00000389506.5_Missense_Mutation_p.R1593H|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1555H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAGTGTGATCGCTGGGTCCAT	0.383000													6	118					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853382	40853382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40853382G>A	ENST00000254691.5	+	3	2147	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	650					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517000													82	137					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785171	11785171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11785171C>T	ENST00000356957.3	-	9	2063	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TXNDC11_ENST00000283033.5_Silent_p.K625K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	652	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGTGCTTGCTTTGGATCCA	0.428000													32	46					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588171	23588171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23588171C>T	ENST00000206513.5	-	1	654	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCGATGTAGGCGGAGAGGTCA	0.662000													17	32					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107395924	107395924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107395924A>T	ENST00000440859.2	+	5	895	c.428A>T	c.(427-429)aAg>aTg	p.K143M	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K142M	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	143					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGGAGATAAGATGTGTCCA	0.299000													7	126					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225660	118225660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118225660T>C	ENST00000369230.3	+	8	1053	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	303					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCTTGTAGATCCTACACATC	0.318000													22	28					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83938602	83938602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83938602C>A	ENST00000369705.3	-	10	1191	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ME1_ENST00000541327.1_Nonsense_Mutation_p.E193*|ME1_ENST00000543031.1_Nonsense_Mutation_p.E284*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	359					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCATTTCTTCATGTTCATGG	0.408000													45	89					4.01344e-20	5.26117e-20	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52497112	52497112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497112C>T	ENST00000602063.1	-	6	1566	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZNF615_ENST00000594083.1_Missense_Mutation_p.G417E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G417E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G411E|ZNF615_ENST00000376716.5_Missense_Mutation_p.G406E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAAGCCTTTTCCACATTCACT	0.388000													5	61					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35819081	35819081	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35819081A>G	ENST00000374704.4	+	7	669	c.489A>G	c.(487-489)aaA>aaG	p.K163K	CCNY_ENST00000339497.5_Silent_p.K138K|CCNY_ENST00000374706.1_Silent_p.K109K|CCNY_ENST00000265375.9_Silent_p.K109K|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	163	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATTATGACAAACACAACCCAG	0.468000													28	44					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137591761	137591761	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137591761C>T	ENST00000371817.3	+	3	698	c.284C>T	c.(283-285)gCa>gTa	p.A95V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	95	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCGTCTGCATTTCCCGAG	0.577000													24	31					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114749	65114749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65114749G>A	ENST00000268043.4	-	3	713	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PIF1_ENST00000559239.1_Missense_Mutation_p.L207F|PIF1_ENST00000333425.6_Missense_Mutation_p.L207F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	207	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TCCTCAGAAAGCTGTGGCTTG	0.622000													14	15					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601185	17601185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17601185C>T	ENST00000259963.3	+	1	600	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	182						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCCCCGGGGCCGCGGGGCCT	0.756000													8	7					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957842	74957842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74957842G>A	ENST00000370891.2	+	25	2562	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.C849Y|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.C748Y	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTTCTGATTGCCTGGTGAAC	0.478000													63	93					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618430	175618430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175618430G>A	ENST00000348749.5	-	6	656	c.579C>T	c.(577-579)agC>agT	p.S193S	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.S111S|CHRNA1_ENST00000409323.1_Silent_p.S193S|CHRNA1_ENST00000409219.1_Silent_p.S193S|CHRNA1_ENST00000261007.5_Silent_p.S218S	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	218					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CCCACTCCCCGCTCTCCATGA	0.582000													15	17					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976860	41976860	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41976860G>T	ENST00000372584.1	-	8	7494	c.6480C>A	c.(6478-6480)ctC>ctA	p.L2160L	HIVEP3_ENST00000372583.1_Silent_p.L2161L|HIVEP3_ENST00000247584.5_Silent_p.L2161L|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.L2160L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGTCATGGAGGGCGGAGA	0.622000													5	42					0.0215528	0.0221649	1	1	0
WDR6	11180	broad.mit.edu	37	3	49050759	49050759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49050759G>A	ENST00000395474.3	+	2	2162	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	WDR6_ENST00000415265.2_Missense_Mutation_p.D46N|WDR6_ENST00000448293.1_Missense_Mutation_p.D547N|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	598					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGTACGAGACGGCCAGCT	0.577000													9	16					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107555	168107555	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107555C>A	ENST00000409195.1	+	9	9742	c.9653C>A	c.(9652-9654)cCt>cAt	p.P3218H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2996H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3218H|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3043					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCATGTCTCCTGCAACACTT	0.453000													4	77					1.23904e-05	1.39987e-05	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227300398	227300398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227300398G>A	ENST00000366769.3	-	13	3155	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R622C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	622					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTCTGCGCAGTTCTTGC	0.413000													56	129					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241718931	241718931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241718931G>T	ENST00000366559.4	+	5	643	c.332G>T	c.(331-333)aGa>aTa	p.R111I	KMO_ENST00000366557.4_Missense_Mutation_p.R111I|KMO_ENST00000366558.3_Missense_Mutation_p.R111I|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	111					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTGTAAGCAGAGAAAATCTA	0.308000													6	39					8.12818e-05	8.99451e-05	1	1	0
TMX2	51075	broad.mit.edu	37	11	57505440	57505440	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57505440A>G	ENST00000278422.4	+	3	318	c.306A>G	c.(304-306)acA>acG	p.T102T	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	102					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGCCAACACAATTCTTTTCT	0.428000													9	168					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35912039	35912039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35912039G>A	ENST00000490799.1	-	20	2904	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q851*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q746*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	851	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACAGGCTGTTGGATCTTGATG	0.463000													22	50					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10566879	10566879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10566879G>T	ENST00000381765.3	+	6	1040	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	HPCAL1_ENST00000307845.3_Missense_Mutation_p.G172C	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	172	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ATTCATCAGAGGTGCCAAGAG	0.572000													47	69					1.54043e-34	2.07138e-34	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62192213	62192213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62192213G>T	ENST00000467148.1	-	15	7285	c.7216C>A	c.(7216-7218)Ctg>Atg	p.L2406M	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1837M	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GACCGGTCCAGACCCAGGTTT	0.627000													7	78					2.7689e-08	3.31013e-08	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35949922	35949922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35949922G>A	ENST00000490799.1	-	8	1354	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.T334M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.T229M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	334					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAATAAGCGTCTGGCTGGT	0.423000													47	58					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104900497	104900497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900497G>T	ENST00000533400.1	-	6	792	c.757C>A	c.(757-759)Cca>Aca	p.P253T	CASP1_ENST00000531166.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.P253T|CASP1_ENST00000393136.4_Missense_Mutation_p.P232T|CASP1_ENST00000525825.1_Missense_Mutation_p.P232T|CASP1_ENST00000534497.1_Missense_Mutation_p.P160T|CASP1_ENST00000594519.1_Missense_Mutation_p.P160T|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.P214T|CASP1_ENST00000527979.1_Missense_Mutation_p.P216T|CASP1_ENST00000593315.1_Missense_Mutation_p.P232T|CASP1_ENST00000446369.1_Missense_Mutation_p.P160T|CASP1_ENST00000526568.1_Missense_Mutation_p.P160T|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.P253T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	253					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGTATATCTGGGACTTGCTCA	0.478000													5	103					2.0095e-06	2.31757e-06	1	1	0
GRB7	2886	broad.mit.edu	37	17	37899152	37899152	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37899152T>C	ENST00000309156.4	+	4	565	c.306_splice	c.e4-1	p.V103_splice	GRB7_ENST00000309185.3_Splice_Site_p.V103_splice|GRB7_ENST00000445327.2_Splice_Site_p.V126_splice|GRB7_ENST00000394211.3_Splice_Site_p.V103_splice|GRB7_ENST00000394204.1_Splice_Site_p.V103_splice|GRB7_ENST00000394209.2_Splice_Site_p.V103_splice|GRB7_ENST00000578702.1_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	103	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCGCAGGTAGTAAAGGTG	0.587000													5	44					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134018710	134018710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134018710G>T	ENST00000299106.4	+	8	1053	c.894G>T	c.(892-894)gaG>gaT	p.E298D	JAM3_ENST00000529443.2_Missense_Mutation_p.E343D|JAM3_ENST00000441717.3_Missense_Mutation_p.E247D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	298					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCACTGACGAGGAGGTAATCA	0.463000													5	53					0.184627	0.186383	1	1	0
ABCA3	21	broad.mit.edu	37	16	2367363	2367363	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2367363G>T	ENST00000301732.5	-	10	1732	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	ABCA3_ENST00000382381.3_Silent_p.S344S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	344					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGAGCACCAGGGAGGGGTCGC	0.622000													14	98					4.36969e-10	5.35656e-10	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54795851	54795851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54795851G>T	ENST00000293379.4	-	21	2421	c.2160C>A	c.(2158-2160)taC>taA	p.Y720*	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	720					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACGGCAAAGTAGTCACAGC	0.572000													6	61					3.59834e-05	4.01776e-05	1	1	0
TMPPE	643853	broad.mit.edu	37	3	33134502	33134502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33134502G>A	ENST00000342462.4	-	2	1376	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Nonsense_Mutation_p.Q259*|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	396						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGAAGATCTGCCCAGCATGT	0.552000													7	42					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56428578	56428578	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56428578C>T	ENST00000295645.4	-	5	666	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	188										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TACCTTCCAGCTTGAGATTTA	0.323000													14	27					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652376	113652376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113652376C>T	ENST00000358160.4	+	12	1720	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R205W|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R139W|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R243W|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAGAAAGTCGGGAAGCACG	0.338000													7	106					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140175795G>A	ENST00000526136.1	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627000													46	76					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298234	36298234	+	Silent	SNP	G	G	A	rs138487840	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36298234G>A	ENST00000437635.2	-	2	411	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	78										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CGGTCTCCTCGGGAGTGGGGG	0.612000													31	54					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124017690	124017690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124017690A>G	ENST00000360013.3	+	6	1143	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	KALRN_ENST00000460856.1_Missense_Mutation_p.E339G|KALRN_ENST00000240874.3_Missense_Mutation_p.E339G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	339					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCACACGGAGATCGGAGTC	0.522000													15	123					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978482	71978482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71978482C>A	ENST00000266674.5	+	18	3003	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	LGR5_ENST00000540815.2_Missense_Mutation_p.L874I|LGR5_ENST00000536515.1_Missense_Mutation_p.L826I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	898						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGCTGCCATCTTTCCTCTGT	0.443000													33	91					1.47197e-15	1.88984e-15	1	1	0
NUP210	23225	broad.mit.edu	37	3	13407522	13407522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13407522G>A	ENST00000254508.5	-	14	1938	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	619					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACAAGAAGCGTGGTAGAGCC	0.617000													4	52					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037455	148037455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037455G>A	ENST00000370460.2	+	11	2359	c.1880G>A	c.(1879-1881)gGg>gAg	p.G627E	AFF2_ENST00000342251.3_Missense_Mutation_p.G594E|AFF2_ENST00000286437.5_Missense_Mutation_p.G268E|AFF2_ENST00000370457.5_Missense_Mutation_p.G594E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	627					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAATTGGGAAAAAACAG	0.438000													7	145					0	0	1	0	0
DBC1	0	broad.mit.edu	37	9	121930124	121930124	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121930124G>A	ENST00000265922.3	-	8	1985	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		508					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCGGATCTCGTTGCTGATGA	0.552000													17	23					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43523147	43523147	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43523147C>G	ENST00000282041.5	-	9	1957	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	641					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AACCAATTCGCTTCACAAACT	0.428000													22	59					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160111	161160111	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161160111C>A	ENST00000308192.9	+	16	1952	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	630	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAAGGCCTTCATCCTAC	0.502000													10	80					0.00621372	0.00652201	1	1	0
RYR3	6263	broad.mit.edu	37	15	34130920	34130920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130920A>G	ENST00000389232.4	+	89	12809	c.12739A>G	c.(12739-12741)Act>Gct	p.T4247A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4242A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4247					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGATGACACTATGGAGGC	0.502000													18	18					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47537530	47537530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47537530C>T	ENST00000273859.3	+	6	1050	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.H261Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	261					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATAGAGAACATTCCAACAA	0.373000													23	44					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45965194G>A	ENST00000296137.2	-	17	4520	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R1459C|FYCO1_ENST00000438446.1_Missense_Mutation_p.R110C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557000													27	42					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904331	129904331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129904331C>T	ENST00000368654.3	-	13	6148	c.5773G>A	c.(5773-5775)Gtg>Atg	p.V1925M	MKI67_ENST00000368653.3_Missense_Mutation_p.V1565M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1925	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTCCACTGGAGTCCCC	0.488000													77	138					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526740	78526740	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78526740C>A	ENST00000541759.1	-	0	127				ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000258873.4_Missense_Mutation_p.R35M			Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGGGTGGTCCTCACAATCAT	0.552000													24	258					1.66031e-10	2.04717e-10	1	1	0
ANGPT1	284	broad.mit.edu	37	8	108296915	108296915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296915G>T	ENST00000520734.1	-	6	885	c.600C>A	c.(598-600)aaC>aaA	p.N200K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N199K			Q15389	ANGP1_HUMAN	angiopoietin 1	400					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTACCTATAGTTTTGCTTTT	0.378000													25	39					9.86323e-18	1.2813e-17	1	1	0
PSAPL1	0	broad.mit.edu	37	4	7436108	7436108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7436108C>T	ENST00000319098.4	-	1	592	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	167					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGCCCATTGGCCATGAACGGA	0.647000													5	6					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280789	17280789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17280789C>A	ENST00000331428.5	-	3	563	c.461G>T	c.(460-462)cGg>cTg	p.R154L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	154						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAATTATCCCGGATTGAGAA	0.398000													24	165					4.87955e-14	6.21198e-14	1	1	0
EME2	197342	broad.mit.edu	37	16	1826144	1826144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1826144G>A	ENST00000307394.7	+	8	1240	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	EME2_ENST00000568449.1_Missense_Mutation_p.G349R			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	353					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGTGAAGGCGGGCGTCCCCG	0.687000								Direct reversal of damage;Homologous recombination					4	67					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783173	110783173	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110783173T>C	ENST00000395494.2	+	17	3209	c.2646T>C	c.(2644-2646)tgT>tgC	p.C882C	ATP2A2_ENST00000539276.2_Silent_p.C909C|ATP2A2_ENST00000308664.6_Silent_p.C909C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	909					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGAAATGTGTAACGCCCTCA	0.517000													9	92					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67292254	67292254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67292254G>A	ENST00000299798.11	+	10	1595	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	510					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCTGAGTCAGCTGCTGATGC	0.587000													17	33					0	0	1	0	0
RNF24	0	broad.mit.edu	37	20	3925866	3925866	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3925866C>A	ENST00000336095.5	-	4	438		c.e4-1		RNF24_ENST00000432261.2_Splice_Site|RNF24_ENST00000358395.6_Splice_Site|RNF24_ENST00000545616.1_Splice_Site	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTAATATAACCTGTAAGACAA	0.274000													24	31					2.70639e-06	3.11222e-06	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118624442	118624442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118624442C>T	ENST00000354673.2	-	7	1081		c.e7+1		IGSF11_ENST00000491903.1_Splice_Site|IGSF11_ENST00000425327.2_Splice_Site|IGSF11_ENST00000393775.2_Splice_Site|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11						cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATATGCTTACGTGAAATAAC	0.428000													15	94					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987505	103987505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103987505C>T	ENST00000370005.3	+	2	445	c.224C>T	c.(223-225)gCa>gTa	p.A75V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	75					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTCTGCCTTGCAATCTTCAGG	0.522000													36	49					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314679	70314679	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70314679A>G	ENST00000377844.4	-	8	2408	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KLHL1_ENST00000545028.1_Missense_Mutation_p.V357A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	550					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTTCAAGTACTGTTACACC	0.368000													22	31					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31797128	31797128	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31797128G>T	ENST00000343307.4	+	3	309	c.160_splice	c.e3+1	p.D54_splice		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	54					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAATGACATAGGTAAGTAATG	0.289000													9	28					2.17888e-05	2.45068e-05	1	1	0
ESRRG	2104	broad.mit.edu	37	1	216692559	216692559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216692559T>C	ENST00000391890.3	-	8	1536	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	ESRRG_ENST00000366937.1_Missense_Mutation_p.Y368C|ESRRG_ENST00000493748.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000493603.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000360012.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000366940.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000366938.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000359162.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000487276.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000408911.3_Missense_Mutation_p.Y356C|ESRRG_ENST00000361525.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000463665.1_Missense_Mutation_p.Y294C|ESRRG_ENST00000361395.2_Missense_Mutation_p.Y333C	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	356					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATGCTCTTGTATTTCTTTAC	0.378000													24	48					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411395	172411395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172411395G>A	ENST00000367728.1	-	1	1831	c.368C>T	c.(367-369)gCc>gTc	p.A123V	PIGC_ENST00000258324.1_Missense_Mutation_p.A123V|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.A123V			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	123					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GAAGACTAGGGCACTCTTCAG	0.488000													8	27					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158979	18158979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158979G>A	ENST00000396275.2	+	3	591	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTTCCTTAGCGGCCACATT	0.547000													8	77					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177911069	177911069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177911069C>A	ENST00000308284.6	-	16	2077	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	663					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGGTGACTGCTCTCTCCCTG	0.498000													21	58					7.41877e-09	8.93215e-09	1	1	0
VPS16	64601	broad.mit.edu	37	20	2845660	2845660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2845660G>A	ENST00000380445.3	+	20	2035	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.A511T|VPS16_ENST00000380443.3_Missense_Mutation_p.A341T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	655					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGACAGCCGCCGATGCCTT	0.572000													29	35					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572365	47572365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572365G>A	ENST00000253048.5	-	14	2419	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	794							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CATTCTCCCGGTCCTGCTTGC	0.687000													51	85					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35478765	35478765	+	Silent	SNP	G	G	A	rs147950414	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35478765G>A	ENST00000229771.6	-	5	451	c.372C>T	c.(370-372)gaC>gaT	p.D124D	TULP1_ENST00000322263.4_Silent_p.D71D	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	124	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						cgtcctcctcgtcctcctctt	0.557000													25	61					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169366576	169366576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169366576G>A	ENST00000545005.1	-	6	1773	c.1266C>T	c.(1264-1266)caC>caT	p.H422H	CCDC181_ENST00000367806.3_Silent_p.H423H|CCDC181_ENST00000367805.3_Silent_p.H422H					coiled-coil domain containing 181																		TCTGCTCTTCGTGCTTTTTTT	0.368000													23	29					0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43481449	43481449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43481449C>T	ENST00000300213.4	+	4	544	c.302C>T	c.(301-303)gCa>gTa	p.A101V	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	101	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCATTTATTGCAGTGTACTAT	0.393000													16	34					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89800422	89800422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89800422C>T	ENST00000289816.5	+	9	1537	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZNF276_ENST00000446326.2_Missense_Mutation_p.R270C|ZNF276_ENST00000443381.2_Missense_Mutation_p.R484C|ZNF276_ENST00000568064.1_Missense_Mutation_p.R392C	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTACCTGCAGCGCCACGTGAA	0.622000													25	31					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25727734	25727734	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25727734A>T	ENST00000269141.3	-	2	498	c.75T>A	c.(73-75)gcT>gcA	p.A25A		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	25					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCACCAGAAGCCTCTACAG	0.418000													8	18					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265822	151265822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151265822G>T	ENST00000287878.4	-	11	1717	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	PRKAG2_ENST00000418337.2_Missense_Mutation_p.L164I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L361I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L280I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L281I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	405	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAACTTGAGGATTCTTTTG	0.343000													6	76					0.00116845	0.00124821	1	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999062	46999062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999062C>T	ENST00000374314.4	+	1	1137	c.182C>T	c.(181-183)gCc>gTc	p.A61V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A61V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	61										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGACCCCAGGCCCCGGAGGAA	0.697000													11	57					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750400	164750400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164750400C>T	ENST00000264382.3	-	24	2708	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	882	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCTGTCAACCCAAGGATTT	0.358000										HNSCC(35;0.089)			17	34					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15876560	15876560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15876560G>T	ENST00000277632.3	-	7	852	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	211					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCCATATACAGGATCTATCAA	0.318000													4	64					0.150653	0.152692	1	1	0
TTN	7273	broad.mit.edu	37	2	179396215	179396215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179396215G>A	ENST00000589042.1	-	358	105351	c.105127C>T	c.(105127-105129)Cgc>Tgc	p.R35043C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25978C|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32475C|TTN_ENST00000359218.5_Missense_Mutation_p.R26103C|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26170C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33402C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33402							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTCTGCGTTGGGAAGCA	0.488000													36	66					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19446192	19446192	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19446192A>C	ENST00000375267.2	-	70	10317	c.10314T>G	c.(10312-10314)aaT>aaG	p.N3438K	UBR4_ENST00000375254.3_Missense_Mutation_p.N3438K|UBR4_ENST00000375217.2_Missense_Mutation_p.N3431K|UBR4_ENST00000375226.2_Missense_Mutation_p.N3414K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3438					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTGCTGGAATTTCTGTGGA	0.488000													20	31					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263331	95263331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95263331G>A	ENST00000344604.5	-	9	1758	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L515L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	537					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGGATTCTAGATTTCTGCAG	0.448000													15	30					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47819386	47819386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47819386G>A	ENST00000378460.2	-	27	3280	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	NUP160_ENST00000528071.1_Silent_p.H964H|NUP160_ENST00000530326.1_Silent_p.H964H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1078					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATAGTAATTGTGAGTCATAA	0.433000													28	42					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47858490	47858490	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47858490G>T	ENST00000378460.2	-	6	937	c.891C>A	c.(889-891)gcC>gcA	p.A297A	NUP160_ENST00000528071.1_Silent_p.A183A|NUP160_ENST00000530326.1_Silent_p.A183A|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	297					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAAGATGAAGGCATCATGCT	0.418000													5	63					0.0215528	0.0221649	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141381168	141381168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381168C>T	ENST00000389328.4	-	8	1554	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V407M|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V416M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	416					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGGGGCCACGCACTGCATG	0.587000													4	48					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950167	115950167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115950167G>T	ENST00000238256.3	-	14	1406	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	430					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCAGTAACAGATGGCTGAGG	0.463000													3	21					0.150653	0.152692	1	1	0
FRS3	10817	broad.mit.edu	37	6	41739216	41739216	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41739216T>C	ENST00000373018.3	-	7	871	c.620A>G	c.(619-621)cAc>cGc	p.H207R	FRS3_ENST00000259748.2_Missense_Mutation_p.H207R	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	207					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGCAGTGGCGGCCCCT	0.662000													21	43					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131752	187131752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187131752G>A	ENST00000378802.4	+	11	1839	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	512					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCAAGTAATGGCATCTGGATC	0.398000													17	37					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29724848	29724848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29724848G>A	ENST00000357586.2	-	23	2998	c.2812C>T	c.(2812-2814)Cac>Tac	p.H938Y	AP1B1_ENST00000405198.1_Missense_Mutation_p.H938Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.H928Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.H931Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.H908Y|AP1B1_ENST00000415447.1_Missense_Mutation_p.H928Y	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	938					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGTACACGTGCTGGGACACC	0.657000													6	9					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33063198	33063198	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33063198A>G	ENST00000286835.7	-	15	2179	c.1797T>C	c.(1795-1797)gtT>gtC	p.V599V	SCAF4_ENST00000399804.1_Silent_p.V599V|SCAF4_ENST00000434667.3_Silent_p.V584V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	599				GVT -> CVI (in Ref. 1; AAD09327).		nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAATATAAGTAACACCAAGTT	0.383000													43	69					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6043351	6043351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6043351C>T	ENST00000265849.7	-	4	428	c.323G>A	c.(322-324)gGg>gAg	p.G108E	PMS2_ENST00000406569.3_Missense_Mutation_p.G108E|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.G108E	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	108					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAGCTTCCCCCCGAAAGCC	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	44					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840388	117840388	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117840388G>T	ENST00000350763.4	-	7	2919	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	TNC_ENST00000345230.3_Silent_p.T836T|TNC_ENST00000542877.1_Silent_p.T836T|TNC_ENST00000423613.2_Silent_p.T836T|TNC_ENST00000346706.3_Silent_p.T836T|TNC_ENST00000537320.1_Silent_p.T836T|TNC_ENST00000340094.3_Silent_p.T836T|TNC_ENST00000341037.4_Silent_p.T836T|TNC_ENST00000535648.1_Silent_p.T836T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	836	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGATGCCGTAGGTCAGCTCAA	0.557000													16	31					9.16793e-09	1.10245e-08	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39229155	39229155	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39229155G>T	ENST00000340369.3	-	2	2010	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I594I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	594	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAACCACCGGATGGTCTGCA	0.587000													30	33					9.65021e-13	1.21719e-12	1	1	0
PTPRA	0	broad.mit.edu	37	20	2998533	2998533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2998533G>A	ENST00000216877.6	+	12	1388	c.988G>A	c.(988-990)Gtt>Att	p.V330I	PTPRA_ENST00000358719.4_Missense_Mutation_p.V195I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V330I|PTPRA_ENST00000380393.3_Missense_Mutation_p.V339I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V350I|PTPRA_ENST00000399903.2_Missense_Mutation_p.V339I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V330I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	339	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCGTCATGGTTACCAACCT	0.443000													5	49					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121877673	121877673	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121877673C>A	ENST00000377069.4	-	21	4015	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E1272D|KDM2B_ENST00000542973.1_Missense_Mutation_p.E640D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1272					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGGTTGATCTCGGTTAAGG	0.547000													13	16					0.000219431	0.000240782	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913581	77913581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77913581C>A	ENST00000321110.1	-	2	632	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	113	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCAGGGACTCTGGGGCTGCT	0.637000													4	20					0.00024832	0.0002712	1	1	0
MFSD12	126321	broad.mit.edu	37	19	3547269	3547269	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3547269C>T	ENST00000355415.2	-	6	1193		c.e6+1		MFSD12_ENST00000389395.3_Splice_Site|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Splice_Site	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12						transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCCCACTCACGTTCCTCCCA	0.627000													18	43					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862928	97862928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97862928T>C	ENST00000447648.2	-	11	1776	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	TECPR1_ENST00000379795.3_Missense_Mutation_p.K493E|TECPR1_ENST00000542604.1_Missense_Mutation_p.K423E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	493						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCCTCCTTGAGGTCAATA	0.692000													4	36					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10824816	10824816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824816C>T	ENST00000526148.1	-	10	1349	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	EIF4G2_ENST00000525681.1_Missense_Mutation_p.R280Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R280Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R280Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGAGCACATTCGGGCAAAGTA	0.363000													10	32					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995288	32995288	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995288T>C	ENST00000330953.5	+	2	542	c.374T>C	c.(373-375)aTa>aCa	p.I125T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	125					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TACAGTGGCATATTCTTTGTC	0.483000													5	219					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776843	164776843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164776843C>T	ENST00000264382.3	-	12	1368	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	436	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCATTGGCACGTCGACCT	0.363000										HNSCC(35;0.089)			16	20					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35200674	35200674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35200674C>T	ENST00000274938.7	+	5	517	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R173W	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	173	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACATTTGCCGGGAGACACC	0.493000													37	84					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120500072	120500072	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120500072A>T	ENST00000283875.5	+	5	1168	c.1075A>T	c.(1075-1077)Agt>Tgt	p.S359C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	359					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCGAGACCAGTGAGTCAGA	0.532000													5	49					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684867	7684867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684867C>T	ENST00000358368.4	-	17	2398	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q	XAB2_ENST00000534844.1_Silent_p.Q784Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	787					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCGCAAGGGCTGGTCACGCT	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)					6	39					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691273	90691273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:90691273G>T	ENST00000312600.3	+	2	911	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	PABPC5_ENST00000373105.1_Missense_Mutation_p.D69Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	233	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGTAATAAGAGATGCCAGTGG	0.418000													20	44					4.96729e-08	5.9048e-08	1	1	0
KATNAL1	84056	broad.mit.edu	37	13	30829592	30829592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30829592C>A	ENST00000380615.3	-	4	651	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D162Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	162						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCCTTGTCATCTCTCCCTCTT	0.463000													80	165					6.14238e-36	8.26669e-36	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103537625	103537625	+	Silent	SNP	C	C	T	rs113109405		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103537625C>T	ENST00000226574.4	+	24	3251	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	NFKB1_ENST00000600343.1_Silent_p.S747S|NFKB1_ENST00000505458.1_Silent_p.S927S|NFKB1_ENST00000394820.4_Silent_p.S927S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	927	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTGCGACAGCGGCGTGGAGA	0.532000													23	48					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140085217	140085217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140085217A>G	ENST00000274712.3	+	6	603	c.476A>G	c.(475-477)tAc>tGc	p.Y159C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	159						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gccaaagcgtacaagaaagag	0.458000													5	26					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156104987	156104987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156104987G>A	ENST00000368300.4	+	5	1032	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	LMNA_ENST00000448611.2_Missense_Mutation_p.A162T|LMNA_ENST00000347559.2_Missense_Mutation_p.A274T|LMNA_ENST00000368299.3_Missense_Mutation_p.A274T|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Missense_Mutation_p.A193T|LMNA_ENST00000473598.2_Missense_Mutation_p.A175T|LMNA_ENST00000392353.3_Missense_Mutation_p.A193T|LMNA_ENST00000361308.4_Missense_Mutation_p.A274T|LMNA_ENST00000368301.2_Missense_Mutation_p.A274T	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	274	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGGACAATGCCAGGCAGTC	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				6	64					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93408082	93408082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93408082C>T	ENST00000267615.6	-	11	1242	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	ITPK1_ENST00000555495.1_Missense_Mutation_p.A238T|ITPK1_ENST00000556603.2_Missense_Mutation_p.A357T|ITPK1_ENST00000354313.3_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	357					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGGGGCTGGCGCTGCATGTC	0.736000													4	4					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144904624	144904624	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144904624C>A	ENST00000529945.1	-	16	3616		c.e16+1		PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCTCTTACCTCTCTGGAT	0.373000			T	PDGFRB	MPD								9	194					0.00448238	0.00472561	1	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269743	150269743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150269743C>T	ENST00000255945.2	+	3	760	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.G209G	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	195							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCAACAGGCGCTGAGCAGG	0.522000													35	99					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19543863	19543863	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19543863T>C	ENST00000396212.2	+	4	703	c.267T>C	c.(265-267)gtT>gtC	p.V89V	CCP110_ENST00000396208.2_Silent_p.V89V|CCP110_ENST00000381396.5_Silent_p.V89V	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	89	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTGACAATGTTCAGGTGTGTG	0.333000													7	88					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006082	22006082	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:22006082G>A	ENST00000276925.6	-	2	730	c.321C>T	c.(319-321)gaC>gaT	p.D107D	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	107					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CATCGCGCACGTCCAGCCGCG	0.731000													11	9					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088125	9088125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9088125C>A	ENST00000397910.4	-	1	3893	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1230	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGATGCCTCCAATGATG	0.517000													18	296					5.3912e-06	6.15692e-06	1	1	0
GARNL3	84253	broad.mit.edu	37	9	130083004	130083004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130083004C>A	ENST00000373387.4	+	6	866	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	GARNL3_ENST00000314904.5_Missense_Mutation_p.L172M|GARNL3_ENST00000435213.2_Missense_Mutation_p.L150M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGCCATGAATCTGGACAAATT	0.378000													8	23					0.000274275	0.000298791	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5487182	5487182	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5487182C>T	ENST00000345221.3	-	1	650	c.96G>A	c.(94-96)gcG>gcA	p.A32A	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.A32A|NLRP1_ENST00000269280.4_Silent_p.A32A|NLRP1_ENST00000572272.1_Silent_p.A32A|NLRP1_ENST00000577119.1_Silent_p.A32A|NLRP1_ENST00000262467.5_Silent_p.A32A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	32	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTGGAGTGCGCTTTATTGG	0.617000													9	7					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225588	9225588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9225588G>A	ENST00000328194.3	-	4	888	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	DENND5A_ENST00000530044.1_Missense_Mutation_p.R190C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	190										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTTGAAGCGCTGCAGTTTG	0.522000													18	35					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862981	14862981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14862981G>A	ENST00000285046.5	+	1	2513	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FGD5_ENST00000543601.1_Silent_p.T560T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	801					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGCGTTCACGAAGCTGTTTG	0.522000													43	78					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897873	23897873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23897873T>C	ENST00000355349.3	-	15	1576	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCAAAGCTGTTGAACTGC	0.582000													11	17					0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105883608	105883608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105883608C>T	ENST00000336358.5	+	2	977	c.458C>T	c.(457-459)aCa>aTa	p.T153I	SFR1_ENST00000369729.3_Missense_Mutation_p.T78I|SFR1_ENST00000369727.3_Missense_Mutation_p.T91I			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	91					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GCATCTTCCACAGAGGAAAAC	0.308000													36	47					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860697	67860697	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67860697T>G	ENST00000388833.3	+	12	1719	c.1342T>G	c.(1342-1344)Ttc>Gtc	p.F448V	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F502V|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.F433V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	448					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TATCAAGATCTTCCACTCCAA	0.488000													12	165					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669446	99669446	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669446T>G	ENST00000303915.6	-	5	1628	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	ZNF3_ENST00000424697.1_Missense_Mutation_p.I221L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.I221L			P17036	ZNF3_HUMAN	zinc finger protein 3	221					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463000													6	103					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193520	28193520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193520C>T	ENST00000302326.4	-	1	3966	c.3012G>A	c.(3010-3012)gcG>gcA	p.A1004A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1004							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGACGTGAGCGCCTTTTCGT	0.701000			T	ETV6	"""AML, meningioma"""								18	27					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178745246	178745246	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178745246T>C	ENST00000311417.2	-	5	1364	c.623A>G	c.(622-624)aAc>aGc	p.N208S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.N208S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	208					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATTTCTCCTGTTAGGCATCAT	0.403000													21	37					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1486973	1486973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1486973C>A	ENST00000300954.5	-	8	1008	c.947G>T	c.(946-948)aGc>aTc	p.S316I		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	316	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGATGCTGTTGGTGTA	0.682000													6	60					0.0293803	0.0301098	1	1	0
THAP9	79725	broad.mit.edu	37	4	83838258	83838258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83838258G>T	ENST00000302236.5	+	5	944	c.893G>T	c.(892-894)aGt>aTt	p.S298I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	298							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGCAGTCACAGTTTGCAGGGG	0.418000													42	87					2.58029e-29	3.4529e-29	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281518	49281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49281518G>T	ENST00000282018.3	+	1	568	c.565G>T	c.(565-567)Gag>Tag	p.E189*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	189					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCATGCTTAGAGCTGAATCT	0.468000													9	107					1.12685e-05	1.27857e-05	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24839159	24839159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839159C>T	ENST00000413692.2	+	3	888	c.744C>T	c.(742-744)gcC>gcT	p.A248A	NFATC4_ENST00000422617.3_Silent_p.A173A|NFATC4_ENST00000553879.1_Silent_p.A115A|NFATC4_ENST00000554591.1_Silent_p.A248A|NFATC4_ENST00000554966.1_Silent_p.A198A|NFATC4_ENST00000555590.1_Silent_p.A198A|NFATC4_ENST00000424781.2_Silent_p.A198A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.A217A|NFATC4_ENST00000553708.1_Silent_p.A185A|NFATC4_ENST00000554050.1_Silent_p.A185A|NFATC4_ENST00000539237.2_Silent_p.A217A|NFATC4_ENST00000554661.1_Silent_p.A115A|NFATC4_ENST00000250373.4_Silent_p.A185A|NFATC4_ENST00000554344.1_Silent_p.A115A|NFATC4_ENST00000555453.1_Silent_p.A173A|NFATC4_ENST00000556169.1_Silent_p.A173A|NFATC4_ENST00000556279.1_Silent_p.A217A|NFATC4_ENST00000557451.1_Silent_p.A115A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	185	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCCGATGCCTCTGACGAGG	0.672000													10	17					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133174975C>T	ENST00000329321.3	+	1	829	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577000													15	18					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93619382	93619382	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93619382C>T	ENST00000371627.4	+	25	3637	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1086	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCACAAAGACAGATCTTGTT	0.373000													17	43					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159195527	159195527	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159195527T>G	ENST00000283233.5	-	6	870	c.557A>C	c.(556-558)aAt>aCt	p.N186T	CCDC148_ENST00000409187.1_Missense_Mutation_p.N195T|CCDC148_ENST00000409889.1_Missense_Mutation_p.N186T|CCDC148_ENST00000536771.1_Missense_Mutation_p.N100T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	186										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAAGATCATTTTCTATTCT	0.313000													12	101					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25276209	25276209	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25276209G>A	ENST00000218548.6	+	14	2369	c.2036_splice	c.e14+1	p.R679_splice	ATP12A_ENST00000381946.3_Splice_Site_p.R673_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	673					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTAACAAACGGTAAGCACAG	0.458000													21	31					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220251124	220251124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251124G>A	ENST00000273075.4	-	5	563	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	DNPEP_ENST00000373972.1_Missense_Mutation_p.R40W|DNPEP_ENST00000523282.1_Missense_Mutation_p.R123W	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	105					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGGCGAGACCGACGTTTCACC	0.527000													31	46					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171495	124171495	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171495G>A	ENST00000303372.5	+	6	805	c.677G>A	c.(676-678)cGt>cAt	p.R226H	TCTN2_ENST00000426174.2_Missense_Mutation_p.R225H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	226					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACGACGACACGTGGTGTCCCC	0.527000													87	136					0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192955	102192955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192955C>T	ENST00000218249.5	+	1	756	c.709C>T	c.(709-711)Cga>Tga	p.R237*	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	237					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	p.R237*(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAGGATGATGCGAGGCCTCTC	0.572000													59	99					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87795162	87795162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87795162C>T	ENST00000398204.4	+	24	2415	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ADAM22_ENST00000398209.3_Silent_p.L698L|ADAM22_ENST00000265727.7_Silent_p.L698L|ADAM22_ENST00000398201.4_Silent_p.L698L|ADAM22_ENST00000315984.7_Silent_p.L698L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	698	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTAATGAGCTGAAGTGTGT	0.378000													5	66					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74992172	74992172	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74992172G>T	ENST00000420843.2	-	7	526	c.429C>A	c.(427-429)gaC>gaA	p.D143E	ARRB1_ENST00000360025.3_Missense_Mutation_p.D143E|ARRB1_ENST00000393505.4_Missense_Mutation_p.D143E	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	143	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGACTTCATAGTCCACACCGC	0.587000													3	4					0.004672	0.0049138	1	1	0
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	rs146408773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642000													13	27					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052210	34052210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052210G>A	ENST00000373381.4	-	46	7121	c.6945C>T	c.(6943-6945)atC>atT	p.I2315I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2317	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483000													12	23					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45165991	45165991	+	Silent	SNP	C	C	T	rs117861720	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45165991C>T	ENST00000291565.4	+	5	546	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PDXK_ENST00000467908.1_Silent_p.D81D|PDXK_ENST00000468090.1_Silent_p.D93D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	121					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACAAGTGGGACGGCGAAGGCT	0.498000													7	31					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522138	52522138	+	Missense_Mutation	SNP	G	G	A	rs150671822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52522138G>A	ENST00000345716.4	+	16	2764	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	NISCH_ENST00000479054.1_Missense_Mutation_p.G877D	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	877					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GACTACTCAGGCAACATCGAG	0.682000													12	18					0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849717	134849717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134849717C>T	ENST00000275767.2	+	2	747	c.524C>T	c.(523-525)gCt>gTt	p.A175V	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	175						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCTCTGAGGGCTGAGAGGGCT	0.577000													32	29					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	652779	652779	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:652779C>T	ENST00000255622.6	+	11	1483	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	PDE6B_ENST00000429163.2_Silent_p.C201C|PDE6B_ENST00000496514.1_Silent_p.C480C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	480					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGCTGACTGCGATGAGGACG	0.602000													8	26					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077443	9077443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9077443G>T	ENST00000457346.2	-	10	1178	c.1104C>A	c.(1102-1104)tgC>tgA	p.C368*	SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.C368*|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.C368*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502000													23	132					1.10513e-12	1.39297e-12	1	1	0
SUPT7L	9913	broad.mit.edu	37	2	27878378	27878378	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27878378G>T	ENST00000337768.5	-	5	1405	c.836C>A	c.(835-837)cCt>cAt	p.P279H	SUPT7L_ENST00000406540.1_Missense_Mutation_p.P277H|SUPT7L_ENST00000405491.1_Missense_Mutation_p.P277H|SUPT7L_ENST00000404798.2_Missense_Mutation_p.P144H|SUPT7L_ENST00000464789.2_Missense_Mutation_p.P277H	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	279					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GTCGCTCACAGGTTCCTCCTT	0.502000													4	82					2.56e-06	2.9446e-06	1	1	0
CLDN7	1366	broad.mit.edu	37	17	7165231	7165231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7165231C>A	ENST00000538261.3	-	1	1033	c.132G>T	c.(130-132)caG>caT	p.Q44H	RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.Q44H|CLDN7_ENST00000360325.7_Missense_Mutation_p.Q44H|CLDN7_ENST00000571881.2_Missense_Mutation_p.Q44H|CLDN7_ENST00000397317.4_Missense_Mutation_p.Q44H	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	44					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGTACATGGCCTGGGCCGTGA	0.632000													15	13					2.61681e-11	3.25769e-11	1	1	0
VAV3	10451	broad.mit.edu	37	1	108299952	108299952	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108299952C>T	ENST00000370056.4	-	11	1292		c.e11-1		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGACCAGTTCCTATTTGGAAG	0.333000													3	63					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97681832	97681832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97681832G>A	ENST00000275053.4	-	12	1472	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	403					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGATACATTCGTAATTGTTCT	0.343000													6	100					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71384091	71384091	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71384091G>A	ENST00000392650.3	-	30	4278	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	SDK2_ENST00000388726.3_Silent_p.S1426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1426	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGAGCCCGTCGCTCCCTGGCT	0.687000													4	5					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708048	167708048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167708048G>T	ENST00000230256.3	+	2	306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	UNC93A_ENST00000366829.2_Missense_Mutation_p.S44I|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	44						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCTCAGCACCCTCTAT	0.617000													51	56					4.10826e-27	5.47827e-27	1	1	0
CCT6P3	0	broad.mit.edu	37	7	64528880	64528880	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64528880C>A	ENST00000426828.1	+	0	668					NR_033416.1																						AAGAGAAAAACTCATAAAAGC	0.279000													7	12					0.00307968	0.00325696	1	1	0
GPR132	29933	broad.mit.edu	37	14	105517744	105517744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517744C>T	ENST00000329797.3	-	4	1641	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	GPR132_ENST00000392585.2_Missense_Mutation_p.A235T|GPR132_ENST00000539291.2_Missense_Mutation_p.A244T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	244					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCGCGATGGCCGAGTGCTTC	0.567000													25	46					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67664560G>T	ENST00000335894.4	+	9	931	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	IQCH_ENST00000546225.1_Nonsense_Mutation_p.E37*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.E116*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.E41*	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388000													8	89					0.00307968	0.00325696	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130931346	130931346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130931346C>T	ENST00000538431.1	-	15	2605	c.2358G>A	c.(2356-2358)gaG>gaA	p.E786E	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.E760E|CIZ1_ENST00000541172.1_Silent_p.E659E|CIZ1_ENST00000277465.4_Silent_p.E732E|CIZ1_ENST00000357558.5_Silent_p.E732E|CIZ1_ENST00000325721.8_Silent_p.E731E|CIZ1_ENST00000372938.5_Silent_p.E760E|CIZ1_ENST00000372948.3_Silent_p.E704E|CIZ1_ENST00000372954.1_Silent_p.E680E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	760						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCAGAGTtcctcctcaacct	0.582000													43	65					0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541754	101541754	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101541754A>C	ENST00000520311.1	-	3	1111	c.308T>G	c.(307-309)aTt>aGt	p.I103S	ANKRD46_ENST00000519597.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000335659.3_Missense_Mutation_p.I103S|ANKRD46_ENST00000519316.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000520552.1_Missense_Mutation_p.I103S	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	103						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AACTTACCAAATATCAATTTT	0.373000													4	54					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	422274	422274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:422274C>A	ENST00000264554.6	-	11	1491	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	498	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCATCCTCTCTGCCGCCCGG	0.706000													4	13					0.014758	0.0152625	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76330205	76330205	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76330205G>T	ENST00000298832.9	+	29	3727	c.3522_splice	c.e29+1	p.Q1174_splice	TTLL5_ENST00000554510.1_Splice_Site_p.Q683_splice|TTLL5_ENST00000556893.1_Splice_Site_p.Q725_splice|TTLL5_ENST00000557636.1_Splice_Site_p.Q1189_splice	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1174					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGGCACCAGGTAATTCAAG	0.423000													6	63					2.0095e-06	2.31757e-06	1	1	0
C12orf44	60673	broad.mit.edu	37	12	52470759	52470759	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470759C>A	ENST00000336854.4	+	4	920	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	148					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGTGAGAAACTCTGCGAGAA	0.567000													4	42					0.150653	0.152692	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643484	37643484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643484T>G	ENST00000356958.4	-	5	1575	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	ZNF585A_ENST00000292841.5_Missense_Mutation_p.K384N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K384N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGACCACATTTATGAGGTT	0.393000													7	137					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31511154	31511154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511154C>T	ENST00000511367.2	-	8	1664	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	DROSHA_ENST00000513349.1_Missense_Mutation_p.D437N|DROSHA_ENST00000344624.3_Missense_Mutation_p.D474N|DROSHA_ENST00000442743.1_Missense_Mutation_p.D437N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	474					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAATCTTCATCGAGCTTCGTC	0.478000													6	69					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135125423	135125423	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135125423C>T	ENST00000359035.3	+	5	761	c.758C>T	c.(757-759)gCa>gTa	p.A253V	ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCTGGGCCGCAGCTCTTCTC	0.493000													12	30					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949302	116949302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116949302G>T	ENST00000229554.5	+	3	1569	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G478*|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	478					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTTCCCAGGAAATGAGAG	0.418000									Kartagener syndrome				14	40					0.000219431	0.000240782	1	1	0
LIPA	3988	broad.mit.edu	37	10	90984859	90984859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984859T>C	ENST00000336233.5	-	6	987	c.665A>G	c.(664-666)cAt>cGt	p.H222R	LIPA_ENST00000456827.1_Missense_Mutation_p.H222R|LIPA_ENST00000371837.1_Missense_Mutation_p.H166R			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	222					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTTAATGAGATGATCTGGTAA	0.498000													29	322					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119305195	119305195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119305195G>A	ENST00000553456.3	+	2	1283	c.459G>A	c.(457-459)aaG>aaA	p.K153K	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	153						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCCCGAAAGCCCAAGCGGA	0.607000													5	21					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132650	91132650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91132650G>A	ENST00000373094.1	+	2	2256	c.1411G>A	c.(1411-1413)Gta>Ata	p.V471I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V471I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V471I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	471	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTCTTTCGTAACTGTTTC	0.433000													35	54					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776016	120776016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776016G>A	ENST00000527524.2	+	13	1577	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	GRIK4_ENST00000438375.2_Missense_Mutation_p.M430I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	430					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATATTTAATGCTGAAGGGGA	0.552000													76	119					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850457	50850457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50850457G>A	ENST00000404971.1	-	7	2567	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	377	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTACCTGACGCAGATTCCTG	0.443000													10	18					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111484843	111484843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111484843C>T	ENST00000428084.1	-	25	2984	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	DOCK4_ENST00000437633.1_Missense_Mutation_p.M904I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	904					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTGGAACCGCATTGCTGAGC	0.512000													12	160					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73094231	73094231	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73094231T>C	ENST00000450736.2	+	3	713	c.298T>C	c.(298-300)Tct>Cct	p.S100P	SLC16A5_ENST00000580123.1_Missense_Mutation_p.S100P|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S100P|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S140P			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	100					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGCTCCTTCTCTCACAACCT	0.587000													9	113					0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231125862	231125862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231125862G>T	ENST00000310256.2	+	3	358	c.301G>T	c.(301-303)Gga>Tga	p.G101*	ARV1_ENST00000366658.2_Nonsense_Mutation_p.G61*|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	101			G -> E (in dbSNP:rs35764859).		sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCAGATCCATGGAAAACTCTG	0.428000													7	129					3.09899e-07	3.63227e-07	1	1	0
GEMIN7	0	broad.mit.edu	37	19	45593756	45593756	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45593756C>A	ENST00000270257.4	+	3	631	c.384C>A	c.(382-384)acC>acA	p.T128T	GEMIN7_ENST00000591607.1_Silent_p.T128T|GEMIN7_ENST00000591747.1_Silent_p.T128T|GEMIN7_ENST00000391951.2_Silent_p.T128T	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	128					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TTTCATATACCTTCAAGCCAT	0.517000													10	19					0.0581538	0.0593651	1	1	0
CUBN	8029	broad.mit.edu	37	10	17151674	17151674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17151674C>T	ENST00000377833.4	-	10	1141	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	359	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGTGGCAGCCTCCATTACT	0.458000													10	27					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76730167	76730167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76730167C>T	ENST00000538159.1	+	22	2465	c.2465C>T	c.(2464-2466)aCa>aTa	p.T822I	USO1_ENST00000514213.2_Missense_Mutation_p.T798I			O60763	USO1_HUMAN	USO1 vesicle transport factor	813					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAACTACAGACAGAAAAGCAG	0.338000													6	4					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926995	43926995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926995G>A	ENST00000537548.1	-	8	1485	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	MATN4_ENST00000372751.4_Missense_Mutation_p.A265V|MATN4_ENST00000342716.4_Missense_Mutation_p.A414V|MATN4_ENST00000372754.1_Missense_Mutation_p.A455V|MATN4_ENST00000353917.5_Missense_Mutation_p.A332V|MATN4_ENST00000372753.1_Missense_Mutation_p.A265V|MATN4_ENST00000360607.5_Missense_Mutation_p.A373V|MATN4_ENST00000372756.1_Missense_Mutation_p.A414V			O95460	MATN4_HUMAN	matrilin 4	455	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTACTCCACGGCCAGGACCGC	0.697000													17	20					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143708484	143708484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:143708484A>G	ENST00000315691.3	+	3	1629	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	C3orf58_ENST00000441925.2_Missense_Mutation_p.Q127R|C3orf58_ENST00000495414.1_Missense_Mutation_p.Q156R|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	365						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTTTGTCAGAACCTCTTA	0.473000													9	65					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999131	46999131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999131C>A	ENST00000374314.4	+	1	1206	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.P84H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	84										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGGCGCGACCCAGTGCTGGA	0.687000													10	55					0.00010058	0.000111121	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72846006	72846006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72846006C>T	ENST00000293190.5	-	7	1704	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	GRIN2C_ENST00000347612.4_Missense_Mutation_p.V520I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	520					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGAAGTCTACGATCTCGGAG	0.607000													34	41					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963041	209963041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209963041G>A	ENST00000367021.3	-	8	1322	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	IRF6_ENST00000542854.1_Missense_Mutation_p.P289S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	384					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTCCAATGGTTTCCCATCT	0.463000										HNSCC(57;0.16)			21	38					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412657	77412657	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412657A>G	ENST00000308488.6	-	6	1919	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	RSF1_ENST00000360355.2_Silent_p.T508T|RSF1_ENST00000480887.1_Silent_p.T287T			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	539					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AATCAAGAGAAGTTTCCATTT	0.413000													90	168					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613474	179613474	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179613474C>A	ENST00000360870.5	-	46	13875	c.13653G>T	c.(13651-13653)caG>caT	p.Q4551H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	683	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTTTTTCCTGTTGTTCCC	0.318000													4	69					0.00909568	0.00947522	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100286531	100286531	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100286531G>A	ENST00000395996.1	+	18	2732	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	VPS13B_ENST00000358544.2_Missense_Mutation_p.G874E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G874E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	874					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCATGGGATCAATAAAA	0.448000													23	63					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131627	21131627	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131627A>C	ENST00000601023.1	+	2	776	c.130A>C	c.(130-132)Aga>Cga	p.R44R	ZNF85_ENST00000328178.8_Silent_p.R103R|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.R70R			Q03923	ZNF85_HUMAN	zinc finger protein 85	103	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GACACTGAAAAGATATGGAAA	0.348000													32	43					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458000													3	6					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48368273	48368273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48368273C>T	ENST00000359882.4	+	2	244	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PORCN_ENST00000355092.3_Missense_Mutation_p.A22V|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000537758.1_Missense_Mutation_p.A22V|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000361988.3_Missense_Mutation_p.A22V|PORCN_ENST00000355961.4_Missense_Mutation_p.A22V|PORCN_ENST00000326194.6_Missense_Mutation_p.A22V			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	22	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCTACTGCCCAGCAGGGC	0.607000													10	36					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48819929	48819929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48819929G>A	ENST00000218176.3	-	6	3154	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	KCND1_ENST00000376477.1_Silent_p.G242G	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	619						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCTGCCACCGCCGCCAGGGG	0.637000													9	15					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116227955	116227955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116227955G>A	ENST00000355485.2	+	7	1392	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	VANGL1_ENST00000369509.1_Missense_Mutation_p.R374H|VANGL1_ENST00000369510.3_Missense_Mutation_p.R372H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R374H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	374					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACATTCAGCGTCTCCAGGCT	0.587000													17	39					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1640869	1640869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1640869A>G	ENST00000409644.1	+	10	5716	c.5716A>G	c.(5716-5718)Aag>Gag	p.K1906E	WDR81_ENST00000446363.1_Missense_Mutation_p.K545E|WDR81_ENST00000437219.2_Missense_Mutation_p.K703E|WDR81_ENST00000419248.1_Missense_Mutation_p.K679E|WDR81_ENST00000309182.5_Missense_Mutation_p.K855E|WDR81_ENST00000545662.1_Missense_Mutation_p.K537E|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	679										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCACCACGAAGCTCAGCTC	0.627000													3	29					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74884148	74884148	+	Silent	SNP	C	C	T	rs149040930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74884148C>T	ENST00000346246.5	+	7	1644	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	471	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAGGATCAACGGCAGGGGTG	0.642000													10	31					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75890978	75890978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75890978G>A	ENST00000371091.5	-	10	1382	c.930C>T	c.(928-930)ccC>ccT	p.P310P	CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Silent_p.P268P|SNUPN_ENST00000308588.5_Silent_p.P268P|SNUPN_ENST00000564644.1_Silent_p.P268P|SNUPN_ENST00000564675.1_Silent_p.P268P			O95149	SPN1_HUMAN	snurportin 1	268	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GAGTGCTTCCGGGGCTGTAGT	0.552000													76	132					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40192659	40192659	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40192659G>A	ENST00000302541.6	+	4	795	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000425621.1_Silent_p.A151A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.A151A|MYRIP_ENST00000539167.1_5'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	151	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGTGGCGCGTGCTTCGACA	0.562000													12	11					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133044935	133044935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133044935G>A	ENST00000207771.3	-	7	1384	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3									p.R438S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAACATAACGCGTTCCAAAT	0.468000													12	12					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7533526	7533526	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7533526G>A	ENST00000380450.4	+	1	67	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SHBG_ENST00000575903.1_Silent_p.L12L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000416273.3_Silent_p.L12L|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Silent_p.L12L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	12					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CCTCGCGCctgctgctgttgc	0.622000													4	11					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19493516	19493516	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19493516C>A	ENST00000375267.2	-	29	4112	c.4109_splice	c.e29+1	p.S1370_splice	UBR4_ENST00000375254.3_Splice_Site_p.S1370_splice|UBR4_ENST00000375217.2_Splice_Site_p.S1370_splice|UBR4_ENST00000375226.2_Splice_Site_p.S1370_splice			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1370					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGGCTCACCTGTTAGGATC	0.443000													10	61					0.00621372	0.00652201	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133881836	133881836	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133881836C>T	ENST00000285928.2	+	13	1593	c.1524C>T	c.(1522-1524)agC>agT	p.S508S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	508	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTTTGGCAAGCTGTATTCATA	0.373000													50	59					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88485985	88485985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88485985G>A	ENST00000429277.2	+	13	2230	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	LDB3_ENST00000458213.2_Nonsense_Mutation_p.W580*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.W580*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.W433*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.W690*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	690	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCACACTTGGCACGACACCT	0.547000													11	15					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679142	176679142	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176679142T>C	ENST00000367662.3	+	11	4645	c.3481T>C	c.(3481-3483)Tat>Cat	p.Y1161H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1161					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCTACATGTATGAGGGAGA	0.418000													21	80					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317981	102317981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102317981C>A	ENST00000372728.3	-	3	461	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	74					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCCTTGCCTGTGGTTCTC	0.507000													16	151					2.35188e-11	2.93101e-11	1	1	0
KHSRP	8570	broad.mit.edu	37	19	6420462	6420462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6420462T>C	ENST00000398148.3	-	5	538	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	149	Gly-rich.|KH 1.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGACCCTGTACTCTTCTGT	0.577000													8	15					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127055	146127055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127055G>T	ENST00000237281.4	-	2	653	c.487C>A	c.(487-489)Cca>Aca	p.P163T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	163							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGTATTTCTGGGACACTTGAT	0.393000													17	158					1.02788e-11	1.28409e-11	1	1	0
WBP7	0	broad.mit.edu	37	19	36210784	36210784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36210784C>T	ENST00000420124.1	+	3	535	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	WBP7_ENST00000341701.1_Missense_Mutation_p.R179W|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R179W																							GACCCCTGCCCGGAAACGGGG	0.667000													23	34					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784182	54784182	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54784182A>G	ENST00000218436.6	-	8	2354	c.2325T>C	c.(2323-2325)acT>acC	p.T775T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	775	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CACATTTCACAGTGTCAGCTT	0.532000													6	66					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108547831G>A	ENST00000526794.1	+	4	430	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000322536.3_Missense_Mutation_p.R133H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453000			T	NUP98	AML*								30	71					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26217769	26217769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26217769G>T	ENST00000380737.3	+	5	760	c.431G>T	c.(430-432)aGa>aTa	p.R144I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R154I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAGGTATAGAGATCCTACT	0.343000													8	57					0.00307968	0.00325696	1	1	0
LDOC1L	84247	broad.mit.edu	37	22	44892773	44892773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892773C>T	ENST00000341255.3	-	2	1173	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	222										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCGTTGGAAGCTGGATGCACT	0.617000													28	47					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59009889	59009889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009889C>A	ENST00000263093.2	-	10	2175	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	SLC27A5_ENST00000594786.1_Missense_Mutation_p.R94M|SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R605M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	689					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGATCAGAGCCTCCAGGTTCC	0.607000													4	10					1.23904e-05	1.39987e-05	1	1	0
SLC9A8	23315	broad.mit.edu	37	20	48497535	48497535	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48497535A>T	ENST00000417961.1	+	13	1491	c.1281A>T	c.(1279-1281)aaA>aaT	p.K427N	SLC9A8_ENST00000361573.2_Missense_Mutation_p.K411N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.K192N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K111N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	411						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GGGATCATAAAATCACACCGA	0.428000													5	130					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10775890	10775890	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10775890A>T	ENST00000283025.2	-	4	894	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCTGATGCAGTCTGACGTA	0.542000													72	95					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32808887	32808887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32808887G>T	ENST00000380250.3	+	42	6200	c.5704G>T	c.(5704-5706)Gat>Tat	p.D1902Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAACATGGAGATGAGATTCA	0.473000													13	15					1.5842e-08	1.90059e-08	1	1	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033407	26033407	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26033407C>G	ENST00000259791.2	-	1	389	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	130					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TAACTCTTCACTTTCCCTTGG	0.488000													14	33					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56091753	56091753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56091753C>A	ENST00000257880.7	-	9	1601	c.1382G>T	c.(1381-1383)aGc>aTc	p.S461I	ITGA7_ENST00000553804.1_Missense_Mutation_p.S421I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S324I|ITGA7_ENST00000347027.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S421I|ITGA7_ENST00000555728.1_Missense_Mutation_p.S461I|ITGA7_ENST00000257879.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S417I			Q13683	ITA7_HUMAN	integrin, alpha 7	461					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCAGGCTGCTCCCATGGTA	0.597000													68	113					7.59065e-32	1.01804e-31	1	1	0
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	rs140918826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493000													18	40					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38884200	38884200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38884200G>T	ENST00000487273.2	+	11	1079	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	334	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAACAGTTTGGACAAATCACT	0.373000													10	142					3.86212e-05	4.30401e-05	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48699376G>A	ENST00000557021.1	-	8	1202	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R125W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATTAGGCGCCGAAGCTCTTGC	0.443000													38	50					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154091391	154091391	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154091391G>T	ENST00000360256.4	-	23	6741	c.6541C>A	c.(6541-6543)Ctt>Att	p.L2181I	F8_ENST00000330287.6_Missense_Mutation_p.L46I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2181	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGCGAAGAGTGCTGCGA	0.418000													32	53					6.00712e-18	7.8162e-18	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77850856	77850856	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:77850856A>T	ENST00000302536.2	+	2	425	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	91							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGACAAGGGAATATTGACAAC	0.443000													45	48					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140476722	140476722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476722G>A	ENST00000194155.4	+	1	2496	c.2348G>A	c.(2347-2349)aGg>aAg	p.R783K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCAGAGAGGGTTAGCGAG	0.468000													9	100					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33326454	33326454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33326454G>A	ENST00000378526.4	+	15	2375	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LIG3_ENST00000262327.5_Missense_Mutation_p.V748M	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	748					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACTAGACATGGTGAAGATCAG	0.572000								Other BER factors					8	14					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93169839	93169839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93169839G>A	ENST00000322349.8	-	29	4448	c.4184C>T	c.(4183-4185)tCc>tTc	p.S1395F		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1395					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGGCTTCTTGGAGGAAGGAGT	0.363000													20	27					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400893	77400893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77400893C>A	ENST00000451710.3	-	21	3053	c.2816G>T	c.(2815-2817)aGa>aTa	p.R939I	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R934I|TRPM6_ENST00000376864.4_Missense_Mutation_p.R939I|TRPM6_ENST00000449912.2_Missense_Mutation_p.R934I|TRPM6_ENST00000360774.1_Missense_Mutation_p.R939I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	939					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGATCAGTCTTCCCGCTGT	0.468000													23	142					1.50039e-11	1.87199e-11	1	1	0
CORIN	10699	broad.mit.edu	37	4	47625742	47625742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47625742C>A	ENST00000273857.4	-	19	2385	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Missense_Mutation_p.A657S|CORIN_ENST00000502252.1_Missense_Mutation_p.A729S|CORIN_ENST00000505909.1_Missense_Mutation_p.A759S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	796	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCATTCGGGCAGCAGGGCGG	0.532000													4	73					0.150653	0.152692	1	1	0
POSTN	10631	broad.mit.edu	37	13	38160320	38160320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38160320C>T	ENST00000379747.4	-	7	968	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	POSTN_ENST00000541179.1_Missense_Mutation_p.R284Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R284Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	284	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGGACACCTCGTGGAAGTTT	0.483000													29	33					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698684	187698684	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187698684T>C	ENST00000295131.2	-	6	856	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACGAAATGTAAACGTGTGG	0.363000													22	34					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239802	6239802	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6239802C>A	ENST00000265978.4	-	8	1821	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	FAM160A2_ENST00000524416.1_Intron|FAM160A2_ENST00000449352.2_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612000													6	108					0.248553	0.25002	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74565141	74565141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565141C>T	ENST00000321288.5	+	9	1277	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	CCDC33_ENST00000398814.3_Missense_Mutation_p.S223F			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	426							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACCTGGCCTCTGTGGGGCTG	0.652000													14	24					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196728882	196728882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196728882G>A	ENST00000312428.6	-	41	7597	c.7497C>T	c.(7495-7497)gaC>gaT	p.D2499D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2499	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTGAAACCAGTCAATGGTAC	0.398000													22	23					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852240	75852240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75852240C>T	ENST00000356136.3	+	15	2124	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	UVRAG_ENST00000533454.1_Missense_Mutation_p.T256I|UVRAG_ENST00000528420.1_Missense_Mutation_p.T527I|UVRAG_ENST00000532130.1_Missense_Mutation_p.T256I|UVRAG_ENST00000539288.1_Missense_Mutation_p.T256I|UVRAG_ENST00000538870.1_Missense_Mutation_p.T184I|UVRAG_ENST00000531818.1_Missense_Mutation_p.T256I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	628					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTCTGCTGTACTGTGGAGCAA	0.567000													24	25					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673640	10673640	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10673640T>C	ENST00000423302.2	-	2	306	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	MRVI1_ENST00000531107.1_Missense_Mutation_p.M44V|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.M44V|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.M44V|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53V|MRVI1_ENST00000532037.1_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ATGTGGGGCATGGCAGCCTCC	0.687000													8	10					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156357	145156357	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145156357A>G	ENST00000558170.2	-	8	3581	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	ZEB2_ENST00000303660.4_Silent_p.S799S|ZEB2_ENST00000539609.3_Silent_p.S775S|ZEB2_ENST00000409487.3_Silent_p.S799S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	799						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGTATGAACTACTGTGGG	0.393000													19	133					0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11715984	11715984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11715984G>A	ENST00000376770.1	+	3	590	c.92G>A	c.(91-93)cGc>cAc	p.R31H	FBXO44_ENST00000376762.4_Missense_Mutation_p.R31H|FBXO44_ENST00000376768.1_Missense_Mutation_p.R31H|FBXO44_ENST00000251546.4_Missense_Mutation_p.R31H|FBXO44_ENST00000251547.5_Missense_Mutation_p.R31H|FBXO44_ENST00000376760.1_Missense_Mutation_p.R31H	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	31	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTGCCGCCTGGTCTGC	0.642000													8	42					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121166	79121166	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79121166C>A	ENST00000545124.1	+	0	427				IFI44_ENST00000370747.4_Silent_p.I270I|IFI44_ENST00000495254.1_3'UTR			Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTCTATATCTTGAACGGTA	0.388000													9	90					3.86212e-05	4.30401e-05	1	1	0
IL34	146433	broad.mit.edu	37	16	70690536	70690536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690536G>A	ENST00000429149.2	+	4	749	c.194G>A	c.(193-195)aGt>aAt	p.S65N	IL34_ENST00000566361.1_Missense_Mutation_p.S40N|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000288098.2_Missense_Mutation_p.S65N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	65					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TACAAGATCAGTGTGCCTTAC	0.562000													4	52					0	0	1	0	0
MRPL36	64979	broad.mit.edu	37	5	1798862	1798862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1798862G>A	ENST00000508987.1	-	2	324	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MRPL36_ENST00000505818.1_Missense_Mutation_p.A63V|MRPL36_ENST00000382647.7_Missense_Mutation_p.A63V|MRPL36_ENST00000505059.2_Missense_Mutation_p.A63V			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	63					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GAACCCCAGCGCAGGCAGCAG	0.592000													13	32					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520277	62520277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62520277G>A	ENST00000394807.3	-	2	1135	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	337	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggaactggagctgagacagg	0.567000													27	26					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849418	57849418	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849418A>G	ENST00000266646.2	+	1	315	c.99A>G	c.(97-99)aaA>aaG	p.K33K	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	33					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGGGCTCCAAACTGGCACCCC	0.612000													4	29					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73475434	73475434	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73475434C>A	ENST00000252034.7	+	26	2150	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	ELN_ENST00000380575.4_Missense_Mutation_p.P555H|ELN_ENST00000380562.4_Missense_Mutation_p.P590H|ELN_ENST00000320492.7_Missense_Mutation_p.P503H|ELN_ENST00000380553.4_Missense_Mutation_p.P448H|ELN_ENST00000357036.5_Missense_Mutation_p.P589H|ELN_ENST00000380584.4_Missense_Mutation_p.P536H|ELN_ENST00000320399.6_Missense_Mutation_p.P617H|ELN_ENST00000458204.1_Missense_Mutation_p.P574H|ELN_ENST00000380576.5_Missense_Mutation_p.P565H|ELN_ENST00000445912.1_Missense_Mutation_p.P584H|ELN_ENST00000414324.1_Missense_Mutation_p.P560H|ELN_ENST00000429192.1_Missense_Mutation_p.P570H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.P652H	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	646	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCCAGTACCTGGAGCCCTG	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						17	67					4.75885e-15	6.09718e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113529312	113529312	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113529312A>T	ENST00000297405.5	-	28	4951	c.4707T>A	c.(4705-4707)atT>atA	p.I1569I	CSMD3_ENST00000352409.3_Silent_p.I1569I|CSMD3_ENST00000343508.3_Silent_p.I1529I|CSMD3_ENST00000455883.2_Silent_p.I1465I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1569	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTACCTGAATGCAGGTTA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	79					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1945107	1945107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1945107G>T	ENST00000263083.6	+	12	1333	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	DPH1_ENST00000570477.1_Missense_Mutation_p.D350Y	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	430					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCGAGGACTGCAGCTG	0.697000													4	4					0.00909568	0.00947522	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095871	143095871	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143095871T>C	ENST00000367603.2	-	5	747	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HIVEP2_ENST00000367604.1_Missense_Mutation_p.D2G|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D2G	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTCCCCAGTGTCCATTTTGTT	0.453000													47	91					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291505	5291505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291505C>A	ENST00000357006.4	-	4	1040	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZBTB14_ENST00000400143.3_Missense_Mutation_p.Q234H	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTTGAGGGGTCTGGGACCCCA	0.488000													7	101					0.0293803	0.0301098	1	1	0
KANK1	23189	broad.mit.edu	37	9	711585	711585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:711585C>T	ENST00000382303.1	+	7	1471	c.819C>T	c.(817-819)cgC>cgT	p.R273R	KANK1_ENST00000382293.3_Silent_p.R115R|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.R273R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	273					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTGAAACGCCTGAAGGAGC	0.572000													18	36					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34804627	34804627	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34804627C>T	ENST00000290219.6	+	5	1353	c.705C>T	c.(703-705)taC>taT	p.Y235Y	IFNGR2_ENST00000405436.1_Silent_p.Y156Y|IFNGR2_ENST00000381995.1_Silent_p.Y254Y	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	235					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TATCTTGCTACGAAACAATGG	0.398000													59	81					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114518719	114518719	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114518719G>T	ENST00000394779.3	-	4	683	c.439C>A	c.(439-441)Cca>Aca	p.P147T	C9orf84_ENST00000318737.4_Missense_Mutation_p.P186T|C9orf84_ENST00000394777.4_Missense_Mutation_p.P147T|C9orf84_ENST00000374287.3_Missense_Mutation_p.P186T|C9orf84_ENST00000374283.5_Missense_Mutation_p.P250T	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	186										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGAGGCTTGGAGGTATTAAG	0.308000													8	56					1.06961e-07	1.26574e-07	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58564856	58564856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58564856G>A	ENST00000282326.1	+	6	911	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGACCTTCTCGCAGGGCCCTC	0.622000													4	47					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41347051	41347051	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41347051C>A	ENST00000422280.1	+	14	2204	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	NBR1_ENST00000341165.6_Missense_Mutation_p.P582H|NBR1_ENST00000590996.1_Missense_Mutation_p.P582H|NBR1_ENST00000589872.1_Missense_Mutation_p.P582H|NBR1_ENST00000542611.1_Missense_Mutation_p.P561H|NBR1_ENST00000389312.4_Missense_Mutation_p.P582H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	582	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CACAACACCCCTGTGGGTAAG	0.418000													8	12					5.50884e-06	6.28354e-06	1	1	0
SLC3A2	6520	broad.mit.edu	37	11	62655861	62655861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655861G>A	ENST00000377892.1	+	13	1906	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	SLC3A2_ENST00000377891.2_Missense_Mutation_p.R531Q|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R499Q|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R429Q|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R75Q|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R468Q|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R530Q			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	530					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AGTGACCAGCGGAGTAAGGAG	0.572000													8	74					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2416729	2416729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2416729C>A	ENST00000332578.3	+	11	1837	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	613	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTCTGCCTGCCCCTGGC	0.617000													5	26					1.23904e-05	1.39987e-05	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101829098	101829098	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101829098G>A	ENST00000263468.8	+	5	975		c.e5+1		KIAA1377_ENST00000537689.1_Splice_Site	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377								protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAATTTGCAAGTATGAAACTA	0.353000													21	80					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406792	50406792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50406792G>A	ENST00000217086.4	-	2	2341	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	744					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGGCGCTGCAGGTTAAAA	0.592000													7	12					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183096	95183096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95183096C>A	ENST00000027335.3	-	8	1025	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.E301*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	301	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTTTTCTTCTCGGTCCAAG	0.418000													6	105					0.0293803	0.0301098	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45856054	45856054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45856054C>T	ENST00000391945.4	-	20	1929	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	ERCC2_ENST00000391944.3_Missense_Mutation_p.V540I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	618	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.V618I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACATGATGACGGCCCGCCCG	0.617000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	28					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203007	140203007	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140203007G>A	ENST00000529859.1	+	1	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T549T|PCDHA5_ENST00000378126.3_Silent_p.T549T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.701000													32	55					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141232864G>A	ENST00000389484.3	-	60	10439	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAACACGGCCAATATGAG	0.368000										TSP Lung(27;0.18)			28	37					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67005218	67005218	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67005218T>C	ENST00000303334.4	+	10	1358	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	CES3_ENST00000543856.1_Silent_p.L68L|CES3_ENST00000394037.1_Silent_p.L429L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	429						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGATACCTTCGAGGTAAGC	0.552000													6	61					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801186	42801186	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801186C>T	ENST00000514985.1	-	5	1038	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	SEPP1_ENST00000506577.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000511224.1_Missense_Mutation_p.R261Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.E151K	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	261					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGGCATATCTCGGTTCTCTGG	0.458000													15	17					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539657	111539657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539657C>T	ENST00000354925.2	-	7	2283	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PITX2_ENST00000306732.3_Missense_Mutation_p.S200N|PITX2_ENST00000394598.2_Missense_Mutation_p.S193N|PITX2_ENST00000394595.3_Silent_p.E124E|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.S147N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	193					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGAAGCTCTTGGTGGA	0.537000													10	26					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186389	239186389	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239186389C>A	ENST00000254657.3	-	2	468	c.189G>T	c.(187-189)aaG>aaT	p.K63N	PER2_ENST00000440245.1_Missense_Mutation_p.K63N|PER2_ENST00000355768.2_Missense_Mutation_p.K63N|PER2_ENST00000254658.3_Missense_Mutation_p.K63N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	63					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCCCAGCTCCTTCCCACTGT	0.597000													6	41					0.0293803	0.0301098	1	1	0
MLNR	2862	broad.mit.edu	37	13	49794762	49794762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49794762C>T	ENST00000398307.1	+	1	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MLNR_ENST00000218721.1_Missense_Mutation_p.R97C			O43193	MTLR_HUMAN	motilin receptor	97					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGACCTGTACCGCCTCTGGCG	0.687000													3	7					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93300165	93300165	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93300165G>T	ENST00000395965.3	-	5	515	c.373C>A	c.(373-375)Cca>Aca	p.P125T	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.P79T|FAM172A_ENST00000509739.1_Missense_Mutation_p.P42T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P79T	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	125						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGACTTACTGGAATAGATACT	0.269000													9	16					5.4927e-09	6.6252e-09	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53117082	53117082	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53117082C>T	ENST00000375442.4	+	7	2175	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	681					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGTCCCAAACGGTTGGGCCA	0.532000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	48					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103528835	103528835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528835C>T	ENST00000226574.4	+	19	2621	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	NFKB1_ENST00000600343.1_Silent_p.Y537Y|NFKB1_ENST00000505458.1_Silent_p.Y717Y|NFKB1_ENST00000394820.4_Silent_p.Y717Y	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	717	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTACTACCTACGATGGAACCA	0.532000													49	77					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19385612	19385612	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19385612T>C	ENST00000263208.5	-	6	654		c.e6-2		HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000464189.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCATCACATCTGAAAGAAGAC	0.527000													3	19					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70964426	70964426	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70964426G>A	ENST00000276594.2	-	8	1803	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGACATGGCTGTCATGGG	0.502000													46	84					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8088619	8088619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8088619C>A	ENST00000075120.7	-	1	252	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	4					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCTTACCTTCTGTGTCCCCA	0.358000													18	111					2.94398e-08	3.51695e-08	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29912306	29912306	+	Missense_Mutation	SNP	G	G	A	rs45542447		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29912306G>A	ENST00000396634.1	+	7	1266	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	HLA-A_ENST00000376806.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V309M			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	309					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATCCCCATCGTGGGCATCAT	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	48					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44739829	44739829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44739829C>T	ENST00000222673.5	+	19	2562	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	OGDH_ENST00000449767.1_Silent_p.H836H|OGDH_ENST00000439616.2_Silent_p.H690H|OGDH_ENST00000444676.1_Silent_p.H855H|OGDH_ENST00000447398.1_Silent_p.H851H|OGDH_ENST00000543843.1_Silent_p.H791H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	840					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACTTCTTCCACGTGCTACGAC	0.567000													8	99					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46032281	46032281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46032281G>A	ENST00000372070.3	+	4	872	c.125G>A	c.(124-126)cGc>cAc	p.R42H	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R42H|AKR1A1_ENST00000471651.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	42					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GTAGGCTACCGCCACATTGAT	0.517000													48	58					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9571002	9571002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9571002A>G	ENST00000460593.1	+	4	1361	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	CPSF3_ENST00000238112.3_Missense_Mutation_p.K112E			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	112					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTATGTCAAAGTTAGGTA	0.348000													34	43					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87339908	87339908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87339908C>T	ENST00000338056.3	+	5	857	c.446C>T	c.(445-447)gCa>gTa	p.A149V	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A132V|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A132V	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	149	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATCAGAGTAGCACTCATGGAA	0.289000													7	37					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730081	37730081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37730081C>A	ENST00000330843.4	-	4	2251	c.2239G>T	c.(2239-2241)Gga>Tga	p.G747*	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	747					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTCTCCTCCTGCTGCAAGC	0.572000													4	73					0.00909568	0.00947522	1	1	0
STAB1	23166	broad.mit.edu	37	3	52556111	52556111	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556111G>A	ENST00000321725.6	+	59	6406	c.6330G>A	c.(6328-6330)caG>caA	p.Q2110Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2110	EGF-like 15.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGTAGCCAGGTAGGAACAA	0.652000													15	17					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804304	43804304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804304C>T	ENST00000372470.3	+	3	346	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MPL_ENST00000413998.2_Missense_Mutation_p.R102C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	102					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGGAAGTGCGTCTCTTCTT	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	41					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973901	63973901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973901C>T	ENST00000398590.3	+	9	1815	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	ATXN7_ENST00000484332.1_Missense_Mutation_p.T276M|ATXN7_ENST00000487717.1_Missense_Mutation_p.T421M|ATXN7_ENST00000538065.1_Missense_Mutation_p.T421M|ATXN7_ENST00000295900.6_Missense_Mutation_p.T421M	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	421	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTCCTAGAACGTCACAGGAG	0.537000													13	119					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366029	109366029	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109366029C>T	ENST00000370001.3	-	13	2398	c.2130G>A	c.(2128-2130)caG>caA	p.Q710Q	AKNAD1_ENST00000369994.1_Silent_p.Q680Q|AKNAD1_ENST00000369995.3_Silent_p.Q710Q|AKNAD1_ENST00000357393.4_Silent_p.Q417Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	710										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGAATGGGGCTGGACAAAGG	0.383000													36	112					0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131846995	131846995	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131846995T>C	ENST00000372546.4	+	2	157	c.125T>C	c.(124-126)tTt>tCt	p.F42S	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.F42S	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	42					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						AGCCCTGTATTTGTCATCGTC	0.582000													9	463					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	885908	885908	+	Silent	SNP	G	G	A	rs116674441	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:885908G>A	ENST00000312090.6	-	5	891	c.741C>T	c.(739-741)agC>agT	p.S247S	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.S247S|MED16_ENST00000589119.1_Silent_p.S247S|MED16_ENST00000395808.3_Silent_p.S247S|MED16_ENST00000325464.1_Silent_p.S247S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCACCACGCTCACGCACA	0.652000													22	37					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76621011	76621011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76621011C>T	ENST00000261530.7	+	2	371	c.305C>T	c.(304-306)gCc>gTc	p.A102V	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.A102V|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.A102V|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.A102V	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		GCTCTCAATGCCATTGTCAAG	0.502000													30	36					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52605916	52605916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52605916G>A	ENST00000399231.3	-	41	5788	c.5545C>T	c.(5545-5547)Ctg>Ttg	p.L1849L	MYO5A_ENST00000553916.1_Silent_p.L1847L|MYO5A_ENST00000358212.6_Silent_p.L1874L|MYO5A_ENST00000356338.6_Silent_p.L1822L|MYO5A_ENST00000399233.2_Silent_p.L1846L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1849					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGAAGCCCAGGCCGAGGCTG	0.463000													5	47					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28604833	28604833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28604833G>A	ENST00000395630.1	-	5	779	c.429C>T	c.(427-429)taC>taT	p.Y143Y	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.Y143Y	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	143					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCCATGTGGTAGAAGTGGT	0.567000													21	44					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74650573	74650573	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74650573C>T	ENST00000355780.5	-	0	182				STAU2_ENST00000521419.1_De_novo_Start_OutOfFrame|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522509.1_De_novo_Start_OutOfFrame|STAU2_ENST00000522962.1_5'UTR|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000524300.1_De_novo_Start_InFrame|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000521210.1_De_novo_Start_InFrame|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_De_novo_Start_InFrame|STAU2_ENST00000524104.1_De_novo_Start_OutOfFrame	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTATCCCTCACGGCTCCAAAA	0.363000													15	31					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44513286	44513286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513286C>T	ENST00000459639.1	-	7	1454	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	U2AF1_ENST00000398137.1_Missense_Mutation_p.G144S|U2AF1_ENST00000380276.2_Missense_Mutation_p.G217S|U2AF1_ENST00000291552.4_Missense_Mutation_p.G217S			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cctccaccaccgccaccgcca	0.577000			Mis		"""CLL, MDS"""								3	24					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027216	50027216	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027216C>A	ENST00000261897.1	+	7	933	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	PRPF40B_ENST00000380281.1_Missense_Mutation_p.L134M|PRPF40B_ENST00000548825.2_Missense_Mutation_p.L156M			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	134					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGCTGCTCCTGTCCCAATG	0.542000													25	266					9.39395e-14	1.19386e-13	1	1	0
GCA	25801	broad.mit.edu	37	2	163215567	163215567	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163215567T>C	ENST00000437150.2	+	6	629	c.468T>C	c.(466-468)agT>agC	p.S156S	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Silent_p.S137S	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	156	EF-hand 4.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAGGTTGAGTCCTCAAACAT	0.303000													39	70					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158969	18158969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158969C>A	ENST00000396275.2	+	3	581	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCGACTTCCTCTTCCTTAG	0.562000													38	42					1.60099e-16	2.06663e-16	1	1	0
RINT1	60561	broad.mit.edu	37	7	105177032	105177032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105177032C>T	ENST00000257700.2	+	3	340	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	37					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323000													57	127					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22211839	22211839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22211839C>T	ENST00000356766.6	+	22	2861	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y	PIWIL2_ENST00000454009.2_Missense_Mutation_p.H905Y|PIWIL2_ENST00000521356.1_Intron	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	905	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATTCCTACGCATTATGTCTG	0.458000													6	53					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218755688	218755688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218755688C>A	ENST00000171887.4	-	10	940	c.488G>T	c.(487-489)aGa>aTa	p.R163I	TNS1_ENST00000419504.1_Missense_Mutation_p.R163I|TNS1_ENST00000430930.1_Missense_Mutation_p.R163I|TNS1_ENST00000310858.6_Missense_Mutation_p.R194I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	163	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACCCACCTTCTTTGGGATGG	0.557000													8	43					0.00307968	0.00325696	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13865139	13865139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13865139G>T	ENST00000586600.1	+	4	543	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CCDC130_ENST00000221554.8_Missense_Mutation_p.D14Y			P13994	CC130_HUMAN	coiled-coil domain containing 130	14					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTATCCTCCAGACTTCAACCC	0.532000													7	54					1.12685e-05	1.27857e-05	1	1	0
AHCTF1	25909	broad.mit.edu	37	1	247013360	247013360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247013360G>T	ENST00000366508.1	-	33	6189	c.6053C>A	c.(6052-6054)tCt>tAt	p.S2018Y	AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1983Y|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1992Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1983	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTTCAGATGGATTGAT	0.418000													63	66					1.40369e-38	1.89216e-38	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681569	55681569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55681569A>C	ENST00000344514.1	-	1	489	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGGCGGAAGGCCAGTGTC	0.433000													12	89					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41923906	41923906	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41923906G>T	ENST00000396512.3	+	17	2180	c.2161_splice	c.e17-1	p.E721_splice	POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Splice_Site_p.E696_splice|POLR3H_ENST00000396504.2_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	696					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCTTTCCAGAGACCAACCTGA	0.572000													8	99					1.12685e-05	1.27857e-05	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126128633	126128633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126128633C>T	ENST00000299308.3	+	6	1442	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	478						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTCCAACAACTGTGATTCCA	0.448000													7	24					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274543	80274543	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80274543C>A	ENST00000584284.1	-	2	478	c.397_splice	c.e2+1	p.E133_splice	CD7_ENST00000583376.1_Splice_Site_p.E33_splice|CD7_ENST00000312648.3_Splice_Site_p.E133_splice|CD7_ENST00000578509.1_Splice_Site_p.E33_splice			P09564	CD7_HUMAN	CD7 molecule	133					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CATTCCCTACCTGTCACCAGG	0.657000													10	75					3.86212e-05	4.30401e-05	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35140087	35140087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35140087C>T	ENST00000381318.3	+	11	1285	c.997C>T	c.(997-999)Cca>Tca	p.P333S	ITSN1_ENST00000381285.4_Missense_Mutation_p.P333S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P333S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P333S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P296S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P333S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P333S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P333S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P333S|ITSN1_ENST00000379960.5_Missense_Mutation_p.P333S|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.P333S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P333S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	333	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACCAGAGGAACCAGTTTTAGA	0.358000													4	65					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157502125	157502125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502125C>T	ENST00000346085.5	+	12	3159	c.3158C>T	c.(3157-3159)aCt>aTt	p.T1053I	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.T1040I|ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035I|ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1040	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCACCACTACTGGGGAGAAG	0.547000													7	17					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91801681	91801681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91801681A>C	ENST00000394232.1	+	5	1285	c.815A>C	c.(814-816)cAc>cCc	p.H272P	SV2B_ENST00000545111.2_Missense_Mutation_p.H121P|SV2B_ENST00000330276.4_Missense_Mutation_p.H272P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	272					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACCAATTACCACTTCCATAGC	0.522000													8	53					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862816	5862816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5862816G>T	ENST00000329322.5	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F108L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATGAAGAACATCTGAG	0.458000													10	190					0.000442599	0.00048047	1	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949586	97949586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97949586C>T	ENST00000005260.8	-	4	454	c.239G>A	c.(238-240)aGt>aAt	p.S80N	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	80	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTGGGTACTTGAAATCTC	0.363000													28	20					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33073349	33073349	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33073349C>A	ENST00000286835.7	-	7	1118	c.736G>T	c.(736-738)Gct>Tct	p.A246S	SCAF4_ENST00000399804.1_Missense_Mutation_p.A246S|SCAF4_ENST00000434667.3_Missense_Mutation_p.A231S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	246						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGAAAGCAGCTTTTTGTTCA	0.438000													30	48					4.3181e-19	5.64621e-19	1	1	0
MED13L	23389	broad.mit.edu	37	12	116422120	116422120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116422120G>A	ENST00000281928.3	-	20	4602	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCCCACGCGCATGATCCCG	0.488000													15	20					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617181	79617181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617181A>G	ENST00000296739.4	+	1	1392	c.1147A>G	c.(1147-1149)Atg>Gtg	p.M383V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CAAGCAAGCAATGAAGGGTAC	0.363000													32	53					0	0	1	0	0
RP11-707M1.1	0	broad.mit.edu	37	11	49598030	49598030	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49598030G>T	ENST00000527477.1	+	0	634																											ACCCTGGAAAGGATCAATTCA	0.542000													5	23					0.014758	0.0152625	1	1	0
GAK	2580	broad.mit.edu	37	4	877247	877247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:877247C>T	ENST00000314167.4	-	13	1370	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	GAK_ENST00000511163.1_Missense_Mutation_p.M341I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	420	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGGGAATGACATCACTGAAA	0.602000													5	70					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637823	2637823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2637823G>A	ENST00000329276.5	+	11	1894	c.1378G>A	c.(1378-1380)Gcg>Acg	p.A460T	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	460	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTTGCCCTCGCGTCTTCAGA	0.517000													32	39					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86272844	86272844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86272844G>T	ENST00000263857.6	-	20	3160	c.2782C>A	c.(2782-2784)Ctg>Atg	p.L928M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L928M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACGCCATCAGCGGGGGTCTC	0.557000													32	32					2.85442e-18	3.71821e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179584372	179584372	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179584372G>T	ENST00000589042.1	-	82	24071	c.23847C>A	c.(23845-23847)ccC>ccA	p.P7949P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P6705P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P7632P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7632	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGGCACAGGGGATTTTAA	0.408000													13	110					2.27111e-07	2.66951e-07	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21631042	21631042	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21631042G>T	ENST00000328843.6	+	14	2545	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q838H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	838	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTGATCCAGCAGACCATGA	0.582000									Kartagener syndrome				38	31					8.73648e-17	1.12908e-16	1	1	0
MAN2B2	23324	broad.mit.edu	37	4	6595014	6595014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6595014C>A	ENST00000285599.3	+	6	831	c.795C>A	c.(793-795)gcC>gcA	p.A265A	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	265					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATGCCGAGGCCCTGGTGGCCA	0.632000													17	25					1.01871e-10	1.25892e-10	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44665968	44665968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44665968C>T	ENST00000454036.1	+	6	701	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.L186L|SLC12A5_ENST00000372315.1_Silent_p.L186L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	209					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572000													13	30					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52343976	52343976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52343976G>A	ENST00000354831.7	-	1	501	c.312C>T	c.(310-312)gtC>gtT	p.V104V	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Silent_p.V104V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	104					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGACTTGACGATCTCAG	0.612000													11	30					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57790311	57790311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57790311C>T	ENST00000379661.3	+	19	2154	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	588	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GATCCTGCAGCGGTTTCTGCC	0.597000													45	87					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969502	160969502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160969502G>T	ENST00000368026.6	-	7	1004	c.730C>A	c.(730-732)Ctt>Att	p.L244I	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L195I	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	244					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGGGTTACAAGGACGGCTGCC	0.532000													9	21					0.000442599	0.00048047	1	1	0
PCNX	22990	broad.mit.edu	37	14	71502806	71502806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502806G>A	ENST00000304743.2	+	19	4245	c.3799G>A	c.(3799-3801)Gta>Ata	p.V1267I	PCNX_ENST00000439984.3_Missense_Mutation_p.V1156I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1267I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1267						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTGACCTGGTAGTATGCAT	0.323000													36	79					0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11718910	11718910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11718910C>T	ENST00000251546.4	+	4	718	c.481C>T	c.(481-483)Cga>Tga	p.R161*	FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R193*|FBXO44_ENST00000376770.1_Silent_p.S202S|FBXO44_ENST00000251547.5_Silent_p.S202S|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R161*	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAAGAGCGATGCCAAGT	0.657000													18	31					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73911096	73911096	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73911096A>G	ENST00000586717.1	-	23	2860		c.e23+1		FBF1_ENST00000319129.5_Splice_Site|FBF1_ENST00000389570.4_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTTGACTCACCTTGGCCCG	0.652000													5	35					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142710	177142710	+	Silent	SNP	G	G	A	rs147166381		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177142710G>A	ENST00000296525.3	-	4	539	c.426C>T	c.(424-426)aaC>aaT	p.N142N	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.N89N	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	142					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGGAGCATGCGTTGAATAACG	0.478000													9	52					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152674457	152674457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152674457C>T	ENST00000367255.5	-	69	11795	c.11194G>A	c.(11194-11196)Gct>Act	p.A3732T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3703T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3732T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3717T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3732					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTTGGTAGCCACATTCTTG	0.413000										HNSCC(10;0.0054)			16	181					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727476	141727476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141727476G>T	ENST00000475668.2	+	10	1216	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.G388*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	388	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACGAATATGGAACCTTAGA	0.448000													4	52					2.56e-06	2.9446e-06	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84695193	84695193	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695193C>T	ENST00000564996.1	+	5	1446	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	KLHL36_ENST00000258157.5_Silent_p.Y372Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	435										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTTCACGTACGGCCACGCGG	0.622000													8	70					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856102	856102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:856102C>T	ENST00000590230.1	+	6	883	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	ELANE_ENST00000263621.1_Missense_Mutation_p.R248C			P08246	ELNE_HUMAN	elastase, neutrophil expressed	248					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TATCATCCAACGCTCCGAGGA	0.657000													5	161					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87622930	87622930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87622930C>A	ENST00000436978.1	+	7	1651	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PTPN13_ENST00000511467.1_Missense_Mutation_p.L391M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L391M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L391M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L391M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	391						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTCAGGTTCTGAGGGAAGC	0.358000													4	46					0.000602214	0.000649039	1	1	0
MC1R	4157	broad.mit.edu	37	16	89985956	89985956	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89985956T>C	ENST00000555427.1	+	3	2593	c.290T>C	c.(289-291)gTc>gCc	p.V97A	TUBB3_ENST00000556922.1_Missense_Mutation_p.V97A|MC1R_ENST00000555147.1_Missense_Mutation_p.V97A					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGACGGCCGTCATCCTCCTG	0.632000									Melanoma, Familial Clustering of				4	38					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1028756	1028756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1028756G>A	ENST00000421673.2	-	13	1531	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	494	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGGTGGACGTCTGCCT	0.657000													7	14					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628915	87628915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:87628915A>G	ENST00000327946.7	-	6	888	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	268						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACCAGATCCAGGATCTCCGG	0.502000										Multiple Myeloma(13;0.14)			6	70					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24839811	24839811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24839811G>A	ENST00000313367.2	-	23	3106	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	OSBPL3_ENST00000396431.1_Silent_p.V854V|OSBPL3_ENST00000431825.2_Silent_p.V818V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Silent_p.V849V|OSBPL3_ENST00000352860.1_Silent_p.V854V|OSBPL3_ENST00000409069.1_Silent_p.V818V|OSBPL3_ENST00000396429.1_Silent_p.V849V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	885					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCACCATAAGACAGGATGGT	0.383000													6	39					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921053	46921053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921053G>A	ENST00000378623.1	-	5	674	c.430_splice	c.e5-1	p.D144_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	144	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTTGCGCATGTCTGGGGGGA	0.607000													15	52					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609293	21609293	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609293A>G	ENST00000425654.2	+	14	2201	c.1721A>G	c.(1720-1722)tAt>tGt	p.Y574C	CNKSR2_ENST00000379510.3_Missense_Mutation_p.Y604C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y555C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y604C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	604	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCATCCCTTTATTGGTATATT	0.328000													6	130					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107203	21107203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21107203C>A	ENST00000255882.6	-	25	3061	c.2975G>T	c.(2974-2976)gGt>gTt	p.G992V	PI4KA_ENST00000572273.1_Missense_Mutation_p.G934V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	934					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCCACCAGACCAGATAGATA	0.423000													85	136					2.16659e-41	2.92331e-41	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56312942	56312942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56312942G>T	ENST00000443188.1	-	7	2877	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NLRP11_ENST00000592953.1_Missense_Mutation_p.L624M|NLRP11_ENST00000589824.2_Missense_Mutation_p.L669M|NLRP11_ENST00000589093.1_Missense_Mutation_p.L723M|NLRP11_ENST00000360133.3_Missense_Mutation_p.L669M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCACCTCAGATGACTTATT	0.488000													25	53					5.61819e-17	7.26839e-17	1	1	0
NCOA7	135112	broad.mit.edu	37	6	126242113	126242113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126242113C>T	ENST00000368357.3	+	13	2621	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	NCOA7_ENST00000229634.9_Missense_Mutation_p.R642C|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGAGGCAAAGCGCAGGAAGAG	0.453000													18	35					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243584	47243584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243584G>A	ENST00000300404.2	+	9	1302	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V355M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V329M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	415					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAGGTGCTGGTGGATGTCCT	0.512000													21	36					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133312047	133312047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133312047A>G	ENST00000539605.1	-	8	8143	c.1459T>C	c.(1459-1461)Ttc>Ctc	p.F487L	ANKLE2_ENST00000337516.5_Missense_Mutation_p.F549L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.F549L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	549						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGAAGGAAGCCTGCTTTC	0.527000													5	124					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27372368	27372368	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27372368T>C	ENST00000358918.3	-	7	1194	c.995A>G	c.(994-996)gAc>gGc	p.D332G	APP_ENST00000354192.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000440126.3_Missense_Mutation_p.D327G|APP_ENST00000359726.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000357903.3_Missense_Mutation_p.D332G|APP_ENST00000439274.2_Missense_Mutation_p.D276G|APP_ENST00000346798.3_Missense_Mutation_p.D332G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	332	BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTCTTCTGTGTCAAAGTTGTT	0.557000													15	12					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53448969	53448969	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53448969G>A	ENST00000314250.6	+	8	812		c.e8-1		TENC1_ENST00000552570.1_Splice_Site|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|TENC1_ENST00000379902.3_Splice_Site	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTTATTTCAGCTCTTCAACC	0.488000													22	42					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933405	48933405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48933405G>A	ENST00000356463.3	-	9	965	c.527C>T	c.(526-528)gCg>gTg	p.A176V	WDR45_ENST00000485908.1_Missense_Mutation_p.A140V|WDR45_ENST00000473974.1_Missense_Mutation_p.A175V|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.A175V|WDR45_ENST00000376358.3_Missense_Mutation_p.A73V|WDR45_ENST00000376372.3_Missense_Mutation_p.A175V|WDR45_ENST00000322995.8_Missense_Mutation_p.A186V|WDR45_ENST00000553851.1_Missense_Mutation_p.A73V|WDR45_ENST00000376368.2_Missense_Mutation_p.A176V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	175					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTTGTGCTCGCCAGGTCCTG	0.582000													3	11					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112015721	112015721	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112015721C>A	ENST00000374566.3	-	12	1796	c.1279_splice	c.e12+1	p.A427_splice	EPB41L4B_ENST00000374557.4_Splice_Site_p.A427_splice	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	427						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.A427P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACACACAACCTTTGAACGTT	0.428000													4	81					0.00024832	0.0002712	1	1	0
ZAP70	7535	broad.mit.edu	37	2	98351726	98351726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98351726G>A	ENST00000264972.5	+	10	1311	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.V59M|ZAP70_ENST00000442208.1_Missense_Mutation_p.V240M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	366	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGATCGACGTGGCCATCAA	0.662000													29	41					0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38617604	38617604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38617604G>A	ENST00000361906.3	-	9	1304	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	RP1-5O6.6_ENST00000504337.1_RNA|TMEM184B_ENST00000361684.4_Nonsense_Mutation_p.Q366*	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	366				Q -> L (in Ref. 9; BAC11607).		integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GTGGACTGCTGCGTGTACTGC	0.642000													24	25					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28187242	28187242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28187242C>T	ENST00000304658.5	-	4	882	c.382G>A	c.(382-384)Gac>Aac	p.D128N	XPO6_ENST00000565698.1_Missense_Mutation_p.D114N	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	128					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAAAAAGTCGTGGTAGAAC	0.378000													27	32					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109803708	109803708	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109803708G>T	ENST00000271332.3	+	3	4064	c.4003G>T	c.(4003-4005)Ggt>Tgt	p.G1335C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1335	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCACCCCGGGTGTCTGCAA	0.592000													20	84					2.21704e-12	2.7869e-12	1	1	0
CAD	790	broad.mit.edu	37	2	27454415	27454415	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27454415C>T	ENST00000264705.4	+	16	2529	c.2367C>T	c.(2365-2367)ggC>ggT	p.G789G	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.G726G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	789	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTGTGGGCTTTGATCACA	0.532000													4	42					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302331	123302331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123302331C>T	ENST00000458573.2	+	2	848	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	231						cytoskeleton	actin binding|tropomyosin binding										GACCCTTACCCGCTTTGCTGA	0.493000													25	25					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	846736	846736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846736C>T	ENST00000317063.6	+	21	3103	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	CHTF18_ENST00000262315.9_Missense_Mutation_p.R826C|CHTF18_ENST00000455171.2_Missense_Mutation_p.R854C			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	826					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAACTCTGCCGCTTCCCTGA	0.682000													4	20					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35467811G>A	ENST00000381151.3	+	2	826	c.314G>A	c.(313-315)gGg>gAg	p.G105E	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	105						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453000													6	186					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138630556	138630556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138630556G>T	ENST00000218099.2	+	5	433	c.426G>T	c.(424-426)gaG>gaT	p.E142D	F9_ENST00000394090.2_Missense_Mutation_p.E104D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	142	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GCAGATGCGAGCAGTTTTGTA	0.378000													9	92					0.000274275	0.000298791	1	1	0
FGF9	2254	broad.mit.edu	37	13	22275412	22275412	+	Silent	SNP	C	C	T	rs143118647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:22275412C>T	ENST00000382353.5	+	3	995	c.465C>T	c.(463-465)caC>caT	p.H155H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	155					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATATAAGCACGTGGACACTG	0.388000													7	64					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504321	64504321	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64504321C>A	ENST00000377494.1	-	8	1921	c.999G>T	c.(997-999)aaG>aaT	p.K333N	RASGRP2_ENST00000394432.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000354024.3_Missense_Mutation_p.K333N			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	333	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCTTCATCTTGGCCCCGT	0.657000													14	14					4.3838e-07	5.12524e-07	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149212534	149212534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212534C>A	ENST00000309241.5	+	5	930	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P236T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P261T|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P300T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	300					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTGCCTCCCCCAGAGGAA	0.662000													27	34					1.66031e-10	2.04717e-10	1	1	0
MLKL	197259	broad.mit.edu	37	16	74719482	74719482	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74719482C>A	ENST00000308807.7	-	5	1186		c.e5-1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like								ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTCACTATTCTATAAGGATT	0.418000													10	26					0.000978159	0.00105116	1	1	0
SLC2A4	6517	broad.mit.edu	37	17	7187151	7187151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7187151C>T	ENST00000317370.8	+	4	686	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	SLC2A4_ENST00000424875.2_Missense_Mutation_p.L130F|SLC2A4_ENST00000571308.1_Missense_Mutation_p.L140F|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	140					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AATGCTCATCCTTGGACGATT	0.592000													21	19					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023849	6023849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023849C>T	ENST00000330728.4	-	1	575	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.502000													10	18					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882475	78882475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78882475C>T	ENST00000299565.5	+	5	942	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	248					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGTAATCAAGCGCCTGCCTCT	0.408000													39	59					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128049358	128049358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049358C>T	ENST00000338791.6	-	3	589	c.239G>A	c.(238-240)cGc>cAc	p.R80H	IMPDH1_ENST00000354269.5_Missense_Mutation_p.R70H|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R80H|IMPDH1_ENST00000378717.4_Intron	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCTGCGAAGGCGATCCATCTG	0.562000													11	23					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056783	102056783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102056783C>T	ENST00000318222.3	-	6	1521	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R305H|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R380H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	380					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTGAGGTAGCGAAGCCGGTG	0.512000													16	24					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654816	35654816	+	Silent	SNP	C	C	T	rs139014576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35654816C>T	ENST00000440995.2	+	7	966	c.966C>T	c.(964-966)caC>caT	p.H322H	SPEF2_ENST00000509059.1_Silent_p.H322H|SPEF2_ENST00000356031.3_Silent_p.H322H|SPEF2_ENST00000282469.6_Silent_p.H322H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	322					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAGCCCACGAAGCACAAG	0.363000													19	32					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336616	126336616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336616C>T	ENST00000394329.3	+	5	6511	c.6498C>T	c.(6496-6498)aaC>aaT	p.N2166N	FAT4_ENST00000335110.5_Silent_p.N464N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2166	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGAAAACACACTTACTG	0.388000													7	90					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232115	132232115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132232115G>A	ENST00000265343.5	-	11	2586	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	AFF4_ENST00000378595.3_Missense_Mutation_p.P736L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	736					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTTGGGCGGCTCTGTTTC	0.453000													43	54					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207592	121207592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121207592C>A	ENST00000264233.5	-	16	4314	c.4186G>T	c.(4186-4188)Ggt>Tgt	p.G1396C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1396					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATAGTACCTACAGTCTTA	0.418000								DNA polymerases (catalytic subunits)					11	112					0.00829132	0.00869385	1	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	C	T	rs140920764		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84050271C>T	ENST00000299709.3	-	8	1014	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647000													13	30					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108061207	108061207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108061207C>A	ENST00000278612.8	-	5	416	c.311G>T	c.(310-312)aGg>aTg	p.R104M		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	104	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCAGCAAACCTTGGGGAACT	0.348000													4	40					0.000602214	0.000649039	1	1	0
IGLV6-57	0	broad.mit.edu	37	22	22550413	22550413	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22550413G>A	ENST00000390285.2	+	0	176																											ACTCTGTGTCGGAGTCTCCGG	0.577000											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41957259	41957259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41957259C>T	ENST00000269095.4	-	11	1548	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	MPP2_ENST00000518766.1_Missense_Mutation_p.R460H|MPP2_ENST00000523501.1_Missense_Mutation_p.R404H|MPP2_ENST00000461854.1_Missense_Mutation_p.R439H|MPP2_ENST00000520305.1_Missense_Mutation_p.R276H|MPP2_ENST00000377184.3_Missense_Mutation_p.R432H|MPP2_ENST00000536246.1_Missense_Mutation_p.R404H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	439	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCAGGTAGCGCCCAGCACG	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	37					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86297353	86297353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86297353G>A	ENST00000263857.6	-	13	2032	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R552*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	552					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGCTGTCGGTTCAGTAGC	0.582000													13	21					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242542409	242542409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242542409C>T	ENST00000407315.1	-	4	1917	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402545.1_Missense_Mutation_p.A84T|THAP4_ENST00000402136.1_Missense_Mutation_p.A84T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	496							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGACAAAGGCCACCTTGTTG	0.632000													23	33					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118649028	118649028	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118649028G>A	ENST00000354673.2	-	4	524	c.144C>T	c.(142-144)agC>agT	p.S48S	IGSF11_ENST00000491903.1_Silent_p.S49S|IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000393775.2_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000459718.1_5'UTR	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542000													36	63					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76343307	76343307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343307G>A	ENST00000370014.3	+	4	837	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SENP6_ENST00000447266.2_Missense_Mutation_p.R73Q|SENP6_ENST00000327284.8_Missense_Mutation_p.R73Q|SENP6_ENST00000370010.2_Missense_Mutation_p.R73Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	73					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTAAATCGTCGATCTGAAATT	0.299000													4	46					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163775	47163775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163775G>T	ENST00000409792.3	-	3	2393	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGCAGCAAGAAACCCTCGT	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								16	122					1.52009e-12	1.91418e-12	1	1	0
VEGFA	7422	broad.mit.edu	37	6	43749754	43749754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43749754A>G	ENST00000372067.3	+	6	1518	c.1024A>G	c.(1024-1026)Aaa>Gaa	p.K342E	VEGFA_ENST00000518824.1_Missense_Mutation_p.K162E|VEGFA_ENST00000230480.6_Missense_Mutation_p.K134E|VEGFA_ENST00000372055.4_Missense_Mutation_p.K383E|VEGFA_ENST00000518689.1_Missense_Mutation_p.K180E|VEGFA_ENST00000425836.2_Missense_Mutation_p.K366E|VEGFA_ENST00000523873.1_Missense_Mutation_p.K203E|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.K186E|VEGFA_ENST00000482630.2_Missense_Mutation_p.K342E|VEGFA_ENST00000523950.1_Missense_Mutation_p.K162E|VEGFA_ENST00000413642.3_Missense_Mutation_p.K360E|VEGFA_ENST00000417285.2_Missense_Mutation_p.K342E|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Missense_Mutation_p.K162E	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	203					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAGACGTGTAAATGTTCCTG	0.493000													20	28					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000542996.2_Silent_p.I298I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000													8	36					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124753591	124753591	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124753591C>A	ENST00000368886.5	-	5	1285	c.965G>T	c.(964-966)aGg>aTg	p.R322M	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTATAGTTCCTTTGACTATG	0.577000													4	96					0.00198382	0.00210581	1	1	0
C15orf57	90416	broad.mit.edu	37	15	40855059	40855059	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40855059G>A	ENST00000358005.3	-	2	429	c.156C>T	c.(154-156)ggC>ggT	p.G52G	C15orf57_ENST00000561011.1_Silent_p.G52G|C15orf57_ENST00000560305.1_Silent_p.G52G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000416810.2_Silent_p.G52G|C15orf57_ENST00000558871.1_Silent_p.G52G|C15orf57_ENST00000558113.1_Silent_p.G52G|C15orf57_ENST00000559911.1_Silent_p.G52G|C15orf57_ENST00000558750.1_Silent_p.G61G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	52										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CCTCCCTCTGGCCTTCACCTT	0.493000													48	85					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920130	108920130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108920130C>T	ENST00000228284.3	-	16	2350	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	SART3_ENST00000431469.2_Missense_Mutation_p.V670I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	706	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGACAAAGACGGTGATGCTG	0.602000									Porokeratosis				20	23					0	0	1	0	0
ASGR1	432	broad.mit.edu	37	17	7077130	7077130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7077130C>T	ENST00000574388.1	-	7	1399	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ASGR1_ENST00000380920.4_Missense_Mutation_p.D141N|ASGR1_ENST00000269299.3_Missense_Mutation_p.D242N			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	242	C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TACCAGTCGTCCGGCTGCTCC	0.711000													21	50					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4952499	4952499	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4952499G>A	ENST00000328908.5	+	8	1625		c.e8-1		CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000397588.3_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTCCTTGCAGGCAAACGAGA	0.562000													4	28					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937967	33937967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCCCTGTGAGCGTGTGCCTAG	0.622000													4	60					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82443885	82443885	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82443885G>A	ENST00000268206.7	-	18	3078	c.2910C>T	c.(2908-2910)cgC>cgT	p.R970R	EFTUD1_ENST00000359445.3_Silent_p.R919R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGTGCATAGCGACATGCTT	0.473000													45	62					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	883219	883219	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:883219G>T	ENST00000449825.1	-	10	1244	c.888C>A	c.(886-888)ctC>ctA	p.L296L	CHID1_ENST00000323541.7_Silent_p.L326L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Silent_p.L321L|CHID1_ENST00000454838.2_Silent_p.L321L|CHID1_ENST00000336845.5_Silent_p.L321L|CHID1_ENST00000436108.2_Silent_p.L296L|CHID1_ENST00000323578.8_Silent_p.L296L|CHID1_ENST00000429789.2_Silent_p.L265L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	296					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGAGCCCCAGGAGGATTTTGC	0.632000													6	147					2.0095e-06	2.31757e-06	1	1	0
TEX2	55852	broad.mit.edu	37	17	62270986	62270986	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62270986T>C	ENST00000258991.3	-	4	2193	c.2109A>G	c.(2107-2109)agA>agG	p.R703R	TEX2_ENST00000583097.1_Silent_p.R703R|TEX2_ENST00000584379.1_Silent_p.R703R			Q8IWB9	TEX2_HUMAN	testis expressed 2	703					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCAGAATAAATCTCCTAAACC	0.453000													9	173					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104139345	104139345	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104139345A>G	ENST00000369983.3	+	35	4970	c.4710A>G	c.(4708-4710)cgA>cgG	p.R1570R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1570					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCTGCAGCGAGCACTACTTG	0.517000													6	172					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16737688	16737688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16737688C>A	ENST00000433922.2	+	10	1163	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BZW2_ENST00000405202.1_Missense_Mutation_p.L253M|BZW2_ENST00000258761.3_Missense_Mutation_p.L329M|BZW2_ENST00000452975.2_3'UTR|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Missense_Mutation_p.L135M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	329	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGCTCCCCTGCTGGCCGTGTT	0.507000													6	85					8.12818e-05	8.99451e-05	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11338101	11338101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11338101C>T	ENST00000294618.7	-	24	2878	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R295H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	956					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R956H(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCAGCTTGCGGGGTGTGTC	0.632000													5	7					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41955231	41955231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41955231C>A	ENST00000269095.4	-	13	1907	c.1603G>T	c.(1603-1605)Gcc>Tcc	p.A535S	MPP2_ENST00000518766.1_Missense_Mutation_p.A580S|MPP2_ENST00000523501.1_Missense_Mutation_p.A524S|MPP2_ENST00000461854.1_Missense_Mutation_p.A559S|MPP2_ENST00000520305.1_Missense_Mutation_p.A396S|MPP2_ENST00000377184.3_Missense_Mutation_p.A552S|MPP2_ENST00000536246.1_Missense_Mutation_p.A524S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	559	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TTCTCCATGGCTGTCTGGAGC	0.592000													33	52					2.42023e-17	3.13592e-17	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18023596	18023596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023596G>T	ENST00000205890.5	+	2	1820	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	494	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGCTGGAGGTGCCCCTGC	0.632000													9	24					1.58986e-06	1.84011e-06	1	1	0
PFKFB1	5207	broad.mit.edu	37	X	54960307	54960307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54960307C>T	ENST00000375006.3	-	13	1373	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E235K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E370K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	435	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGATGGATTCCACTTTGCAG	0.567000													7	16					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153363099	153363099	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153363099C>T	ENST00000453960.2	-	1	78	c.24G>A	c.(22-24)gcG>gcA	p.A8A	MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCGCTCGGCgcggcggcgg	0.776000													3	3					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023742	110023742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110023742C>T	ENST00000453089.2	+	2	1660	c.779C>T	c.(778-780)gCt>gTt	p.A260V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A292V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A291V			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	291							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGTTCCTGCTTGGAGGAAA	0.438000													5	14					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66463908	66463908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66463908G>T	ENST00000359626.5	+	3	404	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	80	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGAGTGAAGATTTTTTATG	0.368000													28	100					1.68575e-08	2.02034e-08	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362637	105362637	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362637G>A	ENST00000369774.4	-	15	2614	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R647C|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R752C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R615C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	780					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCAGCTGGCGCCGTAAAGTG	0.642000													17	226					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446491	29446491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446491C>T	ENST00000544604.2	+	8	2497	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ZNRF3_ENST00000402174.1_Silent_p.Y674Y|ZNRF3_ENST00000406323.3_Silent_p.Y674Y|ZNRF3_ENST00000332811.4_Silent_p.Y674Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	774						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGAAATACGAGGGTCTGC	0.652000													9	13					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489001	11489001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11489001C>T	ENST00000222139.6	-	8	1290	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	396						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCATCCATGGCCACTATGTCC	0.597000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	38					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018282	23018282	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23018282C>T	ENST00000327968.5	+	1	196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	36						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGGCCCCTTCGGCCATCAGG	0.572000													12	22					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925295	47925295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47925295G>T	ENST00000289672.2	-	18	3244	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1065	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGAGGTGAGGGTCAGGGCT	0.557000													8	169					1.06961e-07	1.26574e-07	1	1	0
GLI2	2736	broad.mit.edu	37	2	121726336	121726336	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121726336G>T	ENST00000452319.1	+	6	750	c.690G>T	c.(688-690)aaG>aaT	p.K230N	GLI2_ENST00000361492.4_Missense_Mutation_p.K230N|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	230					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGAGCCGCAAGCGGGCGCTGT	0.642000													4	70					0.00024832	0.0002712	1	1	0
PDE4C	5143	broad.mit.edu	37	19	18331255	18331255	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18331255C>T	ENST00000355502.3	-	10	1537	c.666G>A	c.(664-666)acG>acA	p.T222T	AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.T222T|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000447275.2_Silent_p.T116T|PDE4C_ENST00000262805.11_Silent_p.T190T|PDE4C_ENST00000594617.2_Silent_p.T222T			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	222					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGTCTGCAGCGTCTCCAACT	0.662000													8	30					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176913103	176913103	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176913103C>T	ENST00000367654.2	-	14	2338	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	ASTN1_ENST00000424564.2_Silent_p.V767V|ASTN1_ENST00000361833.2_Silent_p.V767V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.V767V			O14525	ASTN1_HUMAN	astrotactin 1	775					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGGCCACCACAAGACCAT	0.517000													13	39					0	0	1	0	0
FPGT-TNNI3K	0	broad.mit.edu	37	1	74665459	74665459	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74665459A>T	ENST00000370895.1	+	2	229	c.194A>T	c.(193-195)gAg>gTg	p.E65V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.E65V|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E65V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E65V|FPGT_ENST00000524915.1_Missense_Mutation_p.E65V|FPGT_ENST00000467578.2_Missense_Mutation_p.E65V|FPGT_ENST00000534056.1_Missense_Mutation_p.E65V|FPGT_ENST00000482102.2_Missense_Mutation_p.E87V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E65V|FPGT_ENST00000370898.2_Missense_Mutation_p.E65V|FPGT_ENST00000370894.4_Missense_Mutation_p.E65V			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AAAAGAAAGGAGTTACCCCTT	0.428000													12	109					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063391	32063391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32063391C>A	ENST00000375244.3	-	3	2440	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.E747*|TNXB_ENST00000479795.1_Nonsense_Mutation_p.E747*			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCACCTTCTCCGCAGTCT	0.597000													14	34					1.37285e-15	1.76283e-15	1	1	0
CSRNP3	80034	broad.mit.edu	37	2	166535949	166535949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166535949C>T	ENST00000314499.7	+	7	1820	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.R482*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R514*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	482					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGACTATGCCCGACAAGCAGA	0.517000													12	14					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386140	50386140	+	Silent	SNP	C	C	A	rs146598967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50386140C>A	ENST00000221543.5	+	8	1217	c.918C>A	c.(916-918)atC>atA	p.I306I	TBC1D17_ENST00000535102.2_Silent_p.I273I	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	306						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACCGGATCTTCTCGGGGG	0.667000													10	34					9.70103e-10	1.18443e-09	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96956538	96956538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96956538C>A	ENST00000323853.5	-	19	2514	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	813	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTAGAGTTGCTGTGGAAACT	0.507000													9	63					0.00621372	0.00652201	1	1	0
CACNA2D2	9254	broad.mit.edu	37	3	50418494	50418494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50418494C>T	ENST00000435965.1	-	7	889	c.716G>A	c.(715-717)cGc>cAc	p.R239H	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R239H|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R170H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R239H|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R239H|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R239H			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	239					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTCTTGTCTGCGGTTTTCCAT	0.617000													5	155					0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34617963	34617963	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34617963C>A	ENST00000447983.2	-	3	240	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	DCTN3_ENST00000378916.4_Missense_Mutation_p.D63Y|DCTN3_ENST00000341694.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000477738.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000259632.7_Missense_Mutation_p.D63Y|DCTN3_ENST00000378913.2_Missense_Mutation_p.D63Y			O75935	DCTN3_HUMAN	dynactin 3 (p22)	63					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		TTGATCAGATCTTCAACTAGA	0.463000													11	22					1.08611e-07	1.2824e-07	1	1	0
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36241642C>T	ENST00000540320.1	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R2845*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*			Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428000													45	79					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057913	53057913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53057913C>A	ENST00000359798.4	+	5	1924	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAATCACATCTTTCACGTCA	0.383000													35	71					1.45844e-13	1.85123e-13	1	1	0
PAX4	5078	broad.mit.edu	37	7	127252041	127252041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127252041C>T	ENST00000341640.2	-	7	910	c.705G>A	c.(703-705)ggG>ggA	p.G235G	PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Silent_p.G233G|PAX4_ENST00000378740.2_Silent_p.G235G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	243					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTACAGTCAGCCCCTGGGAAG	0.557000													14	41					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443743	20443743	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20443743A>G	ENST00000305051.5	+	1	141	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCCCTTCCAAAATCGATGA	0.383000													9	97					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49456375	49456375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49456375C>A	ENST00000335783.3	+	8	747	c.653C>A	c.(652-654)aCt>aAt	p.T218N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	218					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCTCAGAAAACTCTCAAAGCA	0.358000													23	41					1.9806e-07	2.3338e-07	1	1	0
SKA1	220134	broad.mit.edu	37	18	47917508	47917508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47917508G>A	ENST00000285116.3	+	6	675	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SKA1_ENST00000417656.2_Missense_Mutation_p.R109H|SKA1_ENST00000488454.1_Missense_Mutation_p.R4H|SKA1_ENST00000398452.2_Missense_Mutation_p.R155H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	155					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATGAAATCCCGCTTAACCTAT	0.259000													17	25					0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202128442	202128442	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202128442G>A	ENST00000543735.1	-	0	211				PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000309017.3_Missense_Mutation_p.T135M|PTPN7_ENST00000367279.4_Missense_Mutation_p.T69M|PTPN7_ENST00000308986.5_Missense_Mutation_p.T30M			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637000													26	28					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612794	44612794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44612794G>A	ENST00000273320.3	+	6	2621	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R731H|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TTTAGTCAGCGTTCCACTTTT	0.458000													37	49					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140347266	140347266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347266G>A	ENST00000289269.5	+	1	1447	c.915G>A	c.(913-915)agG>agA	p.R305R	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		305	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGGAGAGGCAGCTCTTCA	0.572000													8	15					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20949643	20949643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20949643G>T	ENST00000380249.1	+	35	4281	c.3917G>T	c.(3916-3918)aGa>aTa	p.R1306I	FOCAD_ENST00000605086.1_Missense_Mutation_p.R742I|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1306I	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1306						integral to membrane	binding										TTTCAAGGCAGACTTAATGAA	0.363000													10	71					1.08611e-07	1.2824e-07	1	1	0
ZFPL1	7542	broad.mit.edu	37	11	64852626	64852626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64852626G>A	ENST00000294258.3	+	3	294	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	48					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAAGATAGCGACTACAACCC	0.602000													15	31					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054174	4054174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054174G>T	ENST00000322357.4	-	2	1335	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.L353M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	353					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACTTCAGGTAGTAGTCC	0.667000													16	34					6.49762e-13	8.19883e-13	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57143645	57143645	+	Missense_Mutation	SNP	G	G	A	rs140018512	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57143645G>A	ENST00000296318.7	-	5	558	c.470C>T	c.(469-471)aCg>aTg	p.T157M	IL17RD_ENST00000427856.2_Missense_Mutation_p.T133M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T13M|IL17RD_ENST00000320057.5_Missense_Mutation_p.T13M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAATAATCCGTTTCAAATTT	0.408000													25	46					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308611	248308611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308611G>T	ENST00000366476.1	+	1	162	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGACACCCAGCTCCACACCC	0.532000													19	326					3.28513e-13	4.1605e-13	1	1	0
POMT1	10585	broad.mit.edu	37	9	134385314	134385314	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134385314G>A	ENST00000423007.1	+	8	1072	c.630G>A	c.(628-630)acG>acA	p.T210T	POMT1_ENST00000341012.7_Silent_p.T156T|POMT1_ENST00000419118.2_Silent_p.T58T|POMT1_ENST00000372228.3_Silent_p.T210T|POMT1_ENST00000354713.4_Silent_p.T180T|POMT1_ENST00000402686.3_Silent_p.T210T|POMT1_ENST00000404875.2_Silent_p.T93T|POMT1_ENST00000541219.1_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	210					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGTGTTCACGTACGTGCTCG	0.512000													49	96					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141320176	141320176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141320176G>A	ENST00000325617.5	-	8	1153	c.713C>T	c.(712-714)aCa>aTa	p.T238I	CLGN_ENST00000414773.1_Missense_Mutation_p.T238I|CLGN_ENST00000537281.1_Missense_Mutation_p.T238I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	238					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCTCAAATGTGTCATCTGG	0.338000													18	35					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192525	132192525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:132192525G>A	ENST00000359827.3	-	2	1890	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	PLXNA4_ENST00000378539.5_Silent_p.L310L|PLXNA4_ENST00000423507.2_Silent_p.L310L|PLXNA4_ENST00000321063.4_Silent_p.L310L			Q9HCM2	PLXA4_HUMAN	plexin A4	310	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCTGCAGCAGGCGGTAC	0.592000													15	29					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750805	120750805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120750805G>A	ENST00000202967.4	+	4	970	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	304	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTCTCGTTGTGGAGAGTTG	0.478000													9	101					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538779	1538779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1538779G>A	ENST00000263071.4	-	11	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	SCARF1_ENST00000348987.3_Missense_Mutation_p.S503L|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	589	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGAGACCGATGGCCGCTT	0.682000													6	80					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48701869	48701869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48701869C>T	ENST00000294952.8	+	12	1293	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A379V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A379V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	379										endometrium(2)|kidney(4)|lung(9)	15						GCGTTAAGAGCCAGGAATCTA	0.403000													29	52					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51242130	51242130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51242130C>T	ENST00000261842.5	+	12	1530	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	AP4E1_ENST00000560508.1_Missense_Mutation_p.A400V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	475					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGACTACTAGCGGAAGGTTGG	0.328000													40	62					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669274	80669274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669274C>T	ENST00000557010.1	-	4	965	c.580G>A	c.(580-582)Gca>Aca	p.A194T	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.A230T|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A194T	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	194					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGGGCTGCTGCACATCGA	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	40					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13708294C>T	ENST00000265104.4	-	76	13380	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4426					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463000									Kartagener syndrome				61	101					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35396885	35396885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396885T>C	ENST00000378495.3	+	27	3458	c.3236T>C	c.(3235-3237)gTa>gCa	p.V1079A	UNC13B_ENST00000396787.1_Missense_Mutation_p.V1091A|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1079A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1079	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AATGAGGATGTATCCCTGGAA	0.557000													91	112					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176893796	176893796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176893796G>A	ENST00000292385.5	-	9	1363	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	DBN1_ENST00000393565.1_Missense_Mutation_p.R250W|DBN1_ENST00000309007.5_Missense_Mutation_p.R250W	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	250					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTCAACCGCCTCTTGGCC	0.602000													87	137					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941042	13941042	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941042T>C	ENST00000254323.2	+	13	2337	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y	ZSWIM4_ENST00000440752.2_Silent_p.Y550Y	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	716							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGAACTGGTATTCCTTATTCA	0.602000													10	32					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819255	14819255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14819255G>A	ENST00000380881.4	-	15	3341	c.2526C>T	c.(2524-2526)ggC>ggT	p.G842G	FREM1_ENST00000422223.2_Silent_p.G841G|FREM1_ENST00000380880.3_Silent_p.G841G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	841					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGAGATCGCCCCAAGAAA	0.423000													6	28					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038837	14038837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14038837G>A	ENST00000318003.7	+	23	2689	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	CC2D1A_ENST00000589606.1_Silent_p.V816V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	816					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGCAGCTGTGCCCACAGTGA	0.627000													8	67					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2222127	2222127	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2222127T>C	ENST00000344595.5	+	4	621	c.303T>C	c.(301-303)ccT>ccC	p.P101P	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	101					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGGAATTCCTGCTTATATTG	0.458000													14	238					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027192	160027192	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160027192C>T	ENST00000263635.6	+	10	1464	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	TANC1_ENST00000454300.1_Silent_p.G303G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	409						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACAGAGGCGCGGTGGTGG	0.507000													28	29					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175594	35175594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35175594C>T	ENST00000505242.1	+	5	1146	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ZNF302_ENST00000446502.2_Missense_Mutation_p.R262C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R218C|ZNF302_ENST00000423823.2_Missense_Mutation_p.R218C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATCCTCAGTCGCCACTGGAG	0.448000													47	63					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159206	152159206	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159206C>A	ENST00000439251.1	-	2	1375	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	PNMA5_ENST00000452693.1_Missense_Mutation_p.G313W|PNMA5_ENST00000361887.5_Missense_Mutation_p.G313W|PNMA5_ENST00000535214.1_Missense_Mutation_p.G313W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACACCCTCGCTGATCC	0.527000													28	52					2.12542e-12	2.67336e-12	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1932478	1932478	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1932478C>T	ENST00000503128.1	+	6	1743	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	WHSC1_ENST00000420906.2_Silent_p.V512V|WHSC1_ENST00000514045.1_Silent_p.V512V|WHSC1_ENST00000398261.1_Silent_p.V512V|WHSC1_ENST00000508803.1_Silent_p.V512V|WHSC1_ENST00000382891.5_Silent_p.V512V|WHSC1_ENST00000382892.2_Silent_p.V512V|WHSC1_ENST00000382895.3_Silent_p.V512V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	512					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCCCCTGTCCAGGCTGAAG	0.517000			T	IGH@	MM								15	31					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218516	244218516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244218516C>T	ENST00000358704.4	+	2	1589	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.C471C(1)									GCAAGTGGTGCGAGCGCAGGT	0.597000													23	44					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613338	175613338	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175613338C>A	ENST00000348749.5	-	8	1289	c.1212G>T	c.(1210-1212)gaG>gaT	p.E404D	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.E322D|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000261007.5_Missense_Mutation_p.E429D	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	429					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACTTCATGGTCTCTGCGATGT	0.502000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	61					0.0381472	0.0390147	1	1	0
SAMHD1	25939	broad.mit.edu	37	20	35575193	35575193	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35575193C>A	ENST00000373694.5	-	0	287				SAMHD1_ENST00000262878.4_Missense_Mutation_p.G75C			Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTAATGCGCCTGTGATTTCA	0.323000													6	20					0.0215528	0.0221649	1	1	0
GMIP	51291	broad.mit.edu	37	19	19745654	19745654	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19745654A>G	ENST00000203556.4	-	17	1971	c.1834T>C	c.(1834-1836)Tcg>Ccg	p.S612P	GMIP_ENST00000445806.2_Missense_Mutation_p.S583P|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.S586P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	612	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGTTCCCCGACAGCTCCACC	0.642000													3	69					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766997	41766997	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41766997A>G	ENST00000379483.3	-	1	1705	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	466							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAGCCACCAATGCCCACTG	0.448000													3	54					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100205171	100205171	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100205171A>G	ENST00000395996.1	+	17	2512	c.2401A>G	c.(2401-2403)Aca>Gca	p.T801A	VPS13B_ENST00000358544.2_Missense_Mutation_p.T801A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T801A|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.T801A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	801					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATTCAAGCTACAAGAGCACA	0.373000													6	83					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502000													16	28					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119625123	119625123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119625123G>T	ENST00000388822.4	+	9	939	c.772G>T	c.(772-774)Gat>Tat	p.D258Y	METTL14_ENST00000506780.1_Missense_Mutation_p.D220Y			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	258						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAGATGTGAAGATATTTGTTG	0.303000													5	36					0.217242	0.218821	1	1	0
RYR3	6263	broad.mit.edu	37	15	34042459	34042459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34042459C>A	ENST00000389232.4	+	57	8441	c.8371C>A	c.(8371-8373)Ctc>Atc	p.L2791I	RYR3_ENST00000415757.3_Missense_Mutation_p.L2791I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2791	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTTAAGTTCCTCCAAGTGAA	0.502000													3	22					0.115264	0.117355	1	1	0
XPO7	23039	broad.mit.edu	37	8	21833992	21833992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21833992C>T	ENST00000434536.1	+	7	852	c.750C>T	c.(748-750)gaC>gaT	p.D250D	XPO7_ENST00000252512.9_Silent_p.D241D|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Silent_p.D242D			Q9UIA9	XPO7_HUMAN	exportin 7	241					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGTCCTCAGACGACCTGTGTA	0.498000													34	64					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265071	198265071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198265071C>T	ENST00000335508.5	-	19	2897	c.2806G>A	c.(2806-2808)Gtt>Att	p.V936I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	936					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCCACAAAACTGTACCACAG	0.403000			Mis		myelodysplastic syndrome								46	54					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858532	12858532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858532G>A	ENST00000456430.2	+	10	2142	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	CAND2_ENST00000295989.5_Missense_Mutation_p.A608T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	701					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGCTGCCTGCCCTGGTCAA	0.672000													4	33					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40020150C>T	ENST00000324616.5	+	1	166	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Silent_p.V4V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542000													11	7					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291622	5291622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291622G>A	ENST00000357006.4	-	4	923	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZBTB14_ENST00000400143.3_Silent_p.L195L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CCTGAACCCTGAGCGTTGTGG	0.542000													47	88					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352039	168352039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352039G>A	ENST00000366806.2	+	30	4126	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	MLLT4_ENST00000400822.3_Silent_p.S1327S|MLLT4_ENST00000392112.1_Silent_p.S1311S|MLLT4_ENST00000344191.4_Silent_p.S1328S|MLLT4_ENST00000351017.4_Silent_p.S1335S|MLLT4_ENST00000392108.3_Silent_p.S1328S|MLLT4_ENST00000447894.2_Silent_p.S1328S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1328					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCTAAGTCGGTCACCCCTG	0.547000			T	MLL	AL								8	111					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536520	87536520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536520G>T	ENST00000265728.1	+	12	1571	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	356					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TACAGTGTTGGATCCCTTTCT	0.299000													20	67					2.4624e-09	2.98951e-09	1	1	0
POMT2	29954	broad.mit.edu	37	14	77767459	77767459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77767459G>T	ENST00000261534.4	-	6	992	c.790C>A	c.(790-792)Ctg>Atg	p.L264M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	264					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCTCCGAACAGGTACCAAAGG	0.507000											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	150					1.12685e-05	1.27857e-05	1	1	0
CELA1	1990	broad.mit.edu	37	12	51736377	51736377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736377C>T	ENST00000293636.1	-	4	348	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572000													36	57					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38140580	38140580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38140580C>T	ENST00000264639.4	+	2	428	c.254C>T	c.(253-255)gCg>gTg	p.A85V	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAGAGAAAGCGGTTTCAGGC	0.537000													6	46					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074122	8074122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8074122C>A	ENST00000075120.7	-	10	1618	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	460					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CGTGTGATATCCTCAAAAGTC	0.502000													5	172					0.00116845	0.00124821	1	1	0
ACOX1	51	broad.mit.edu	37	17	73969727	73969727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73969727C>T	ENST00000301608.4	-	3	469	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	137					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCCGTCTGGGCGTAGGTGCCA	0.478000													13	27					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617440	41617440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41617440C>T	ENST00000373050.4	+	3	347	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W				Q99750	MDFI_HUMAN	MyoD family inhibitor	115					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGGCACCAGACGGGCGGGGAA	0.647000													16	181					0	0	1	0	0
PCDHB4	0	broad.mit.edu	37	5	140503114	140503114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503114C>A	ENST00000194152.1	+	1	1534	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692000													23	53					9.73076e-26	1.29479e-25	1	1	0
NEU4	129807	broad.mit.edu	37	2	242757436	242757436	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242757436C>T	ENST00000391969.2	+	5	1228	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	NEU4_ENST00000404257.1_Silent_p.L185L|NEU4_ENST00000405370.1_Silent_p.L173L|NEU4_ENST00000325935.6_Silent_p.L186L|NEU4_ENST00000407683.1_Silent_p.L173L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	173						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGCCGCCTGCTGGTACCCGC	0.677000													4	9					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737093	18737093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18737093C>T	ENST00000513874.1	-	11	1556	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	473	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCAGCTCTGCTCGCTTGCCC	0.532000													6	70					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151630870	151630870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151630870C>T	ENST00000368843.3	+	3	823	c.703C>T	c.(703-705)Cga>Tga	p.R235*	SNX27_ENST00000458013.2_Nonsense_Mutation_p.R235*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R142*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	235	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTAGATGCCCGACGTCGGGG	0.403000													5	118					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101735165	101735165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101735165G>A	ENST00000251127.6	-	33	3841	c.3760C>T	c.(3760-3762)Ctg>Ttg	p.L1254L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1254						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTACCTCCAGAACAAAGATG	0.493000													8	54					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129900968	129900968	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129900968C>A	ENST00000368654.3	-	13	9511	c.9136G>T	c.(9136-9138)Gtc>Ttc	p.V3046F	MKI67_ENST00000368653.3_Missense_Mutation_p.V2686F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3046					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCATGATGACCACGGGTTCG	0.502000													9	121					2.17888e-05	2.45068e-05	1	1	0
ZNF675	171392	broad.mit.edu	37	19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23836033C>T	ENST00000359788.4	-	4	1870	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299000													11	23					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91083495	91083495	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91083495C>T	ENST00000375859.3	+	5	842	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SPIN1_ENST00000541629.1_Silent_p.G188G|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	188					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAAAGAAGGCGACCTTCGCA	0.378000													36	48					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53370255	53370255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370255A>G	ENST00000229416.6	-	12	1813	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	444					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGTACCACAAACACCACATAG	0.418000													4	48					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949440	75949440	+	Missense_Mutation	SNP	C	C	T	rs138286330		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75949440C>T	ENST00000308527.5	+	2	2806	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	537	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTCCACCAGCGCCGTGAGCT	0.632000													26	28					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411331	105411331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411331G>A	ENST00000333244.5	-	7	10576	c.10457C>T	c.(10456-10458)tCg>tTg	p.S3486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCCGACACCCCGAA	0.627000													84	132					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651375	77651375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77651375G>T	ENST00000461745.1	+	20	3769	c.2869G>T	c.(2869-2871)Gtt>Ttt	p.V957F	ROBO2_ENST00000332191.8_Missense_Mutation_p.V957F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V973F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	957					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGCCACCAGTTCCAGGCCA	0.438000													4	37					0.00024832	0.0002712	1	1	0
SUCNR1	56670	broad.mit.edu	37	3	151598783	151598783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151598783C>T	ENST00000362032.4	+	3	557	c.452C>T	c.(451-453)aCc>aTc	p.T151I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTTTTAGTAACCTTAGAGTTA	0.378000													62	94					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887564	133887564	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133887564C>A	ENST00000409261.1	-	6	700	c.327G>T	c.(325-327)caG>caT	p.Q109H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q109H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q109H|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q109H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	109							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAACTGCTGCTGCAAGCTAC	0.483000													9	12					3.09899e-07	3.63227e-07	1	1	0
TCL1A	8115	broad.mit.edu	37	14	96178700	96178700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96178700G>A	ENST00000402399.1	-	2	283	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	TCL1A_ENST00000556450.1_Missense_Mutation_p.R52C|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52C|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTTCCCGACGCAAGAGCACC	0.567000			T	TRA@	T-CLL								26	40					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692112	67692112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67692112G>T	ENST00000219251.8	-	10	1563	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	ACD_ENST00000393919.4_Missense_Mutation_p.P414H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	414	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGACCTGGGGGTCAGGGT	0.667000													34	39					1.69901e-12	2.13862e-12	1	1	0
ARMC1	55156	broad.mit.edu	37	8	66534582	66534582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66534582C>T	ENST00000276569.3	-	3	435	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	ARMC1_ENST00000458464.2_Silent_p.S25S|ARMC1_ENST00000523384.1_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	64					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TGCCAAGTATCGAAGAGCCTA	0.353000													4	85					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284000													28	53					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491368	42491368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42491368C>T	ENST00000398675.3	-	7	1269	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C315Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	346					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCCATATATACAATGATCTGG	0.373000													44	84					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145099	58145099	+	Missense_Mutation	SNP	C	C	T	rs3211612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58145099C>T	ENST00000257904.6	-	3	610	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CDK4_ENST00000312990.6_Missense_Mutation_p.R82Q|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	82	Protein kinase.		R -> Q (in dbSNP:rs3211612).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCGGTCAGTTCGGGATGTGGC	0.532000			Mis			melanoma			Hereditary Melanoma				37	45					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755566	124755566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124755566C>T	ENST00000368886.5	-	4	580	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGCATAGTTGCAGTACCGACA	0.453000													5	95					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59344074	59344074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59344074C>T	ENST00000263847.1	-	14	2879	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	800					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCATGAGCTCCAGTCCTGTT	0.453000													59	119					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045367	31045367	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31045367T>C	ENST00000399914.1	-	4	1183	c.662A>G	c.(661-663)aAa>aGa	p.K221R	GRIK1_ENST00000399913.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389125.3_Missense_Mutation_p.K221R|GRIK1_ENST00000399909.1_Missense_Mutation_p.K221R|GRIK1_ENST00000399907.1_Missense_Mutation_p.K221R|GRIK1_ENST00000535441.1_Missense_Mutation_p.K221R|GRIK1_ENST00000327783.4_Missense_Mutation_p.K221R|GRIK1_ENST00000389124.2_Missense_Mutation_p.K221R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.K221R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	221					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCCTTGCCTTTCTTCATCTC	0.448000													60	119					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	737585	737585	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:737585G>A	ENST00000293883.4	-	2	1395	c.636C>T	c.(634-636)tgC>tgT	p.C212C	WDR24_ENST00000248142.6_Silent_p.C342C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	298										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCAGTCGCAGCAGAAGACGG	0.617000													14	13					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723931	88723931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88723931G>T	ENST00000301012.3	-	4	345	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	106					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGCAGCTGAGGCTGGAGGGC	0.677000													13	19					4.36969e-10	5.35656e-10	1	1	0
ATP1B4	23439	broad.mit.edu	37	X	119509350	119509350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119509350A>G	ENST00000218008.3	+	5	743	c.686A>G	c.(685-687)aAc>aGc	p.N229S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.N186S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.N225S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	229					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCCTAAAGAACTGCTCTGGT	0.478000													9	145					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390580	27390580	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390580A>C	ENST00000379214.4	-	18	2133	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V	LGR4_ENST00000389858.4_Missense_Mutation_p.F540V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	564						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAAGATGCAAATGTTGTTAAA	0.368000													33	46					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283889	124283889	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124283889G>T	ENST00000409039.3	+	13	1931	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGCTGCCAGCTCTCATGAA	0.502000													4	42					0.00198382	0.00210581	1	1	0
FBXO22	26263	broad.mit.edu	37	15	76222395	76222395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76222395G>A	ENST00000453211.2	+	6	885	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000308275.3_Intron	NM_012170.3	NP_036302.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	0					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGAAAAGTATGTCTTGTGTGC	0.383000													5	78					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930405C>T	ENST00000308497.4	+	3	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_ENST00000438269.1_Silent_p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493000													10	10					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74345102	74345102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345102C>A	ENST00000377044.4	-	9	2380	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R551M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	614						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAAGTATTCCTCTGTTCAAT	0.423000													7	53					8.12818e-05	8.99451e-05	1	1	0
THOC2	57187	broad.mit.edu	37	X	122837343	122837343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122837343C>T	ENST00000245838.8	-	4	266	c.235G>A	c.(235-237)Gat>Aat	p.D79N	THOC2_ENST00000355725.4_Missense_Mutation_p.D79N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	79					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGGGCATATCCTCACGAAAT	0.313000													19	42					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70149248G>A	ENST00000550536.1	+	2	565	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	36					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443000													27	53					0	0	1	0	0
PCDHGA10	0	broad.mit.edu	37	5	140793483	140793483	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140793483C>A	ENST00000398610.2	+	1	741	c.741C>A	c.(739-741)acC>acA	p.T247T	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCTTCACCTTGCCAGAAT	0.577000													5	26					0.184627	0.186383	1	1	0
NR2C2	7182	broad.mit.edu	37	3	15073889	15073889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15073889A>G	ENST00000425241.1	+	10	1476	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	NR2C2_ENST00000323373.6_Missense_Mutation_p.T391A|NR2C2_ENST00000393102.3_Missense_Mutation_p.T372A|NR2C2_ENST00000406272.2_Missense_Mutation_p.T372A|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	372					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAGCTAACAATGCCCAG	0.522000													76	111					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150935111	150935111	+	Missense_Mutation	SNP	C	C	T	rs139831103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150935111C>T	ENST00000035307.2	+	4	3176	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R547W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	555						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTAGAGCGACGGTACCCTGG	0.632000													17	40					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7056173C>T	ENST00000310074.7	+	2	844	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TADA2B_ENST00000515646.1_Missense_Mutation_p.R127W|TADA2B_ENST00000512388.1_Missense_Mutation_p.R144W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGACAGCGGCGGAAGAACAT	0.572000													26	53					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900492	202900492	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900492C>T	ENST00000286201.1	+	1	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	374					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGAGGCCATCGAGGCCAACT	0.632000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	47					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55193476	55193476	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55193476G>A	ENST00000337714.3	+	7	2519	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	AKAP1_ENST00000539273.1_Silent_p.T762T|AKAP1_ENST00000572557.1_Silent_p.T762T|AKAP1_ENST00000571629.1_Silent_p.T762T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	762	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCAGTAACGGTCATCTGTG	0.647000													13	27					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585861	49585861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49585861G>A	ENST00000371175.4	-	3	438	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RHAG_ENST00000229810.7_Missense_Mutation_p.P138S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	138					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTGGGTGGGGCTCGTTTTT	0.368000													11	29					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419723	5419723	+	Missense_Mutation	SNP	C	C	T	rs117538203	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5419723C>T	ENST00000341928.2	-	12	1833	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R516Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R498Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R516Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R516Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806).	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCTCGTGCCGGATGGCCGA	0.547000													29	40					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32559922	32559922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32559922G>A	ENST00000345122.3	+	2	362	c.47G>A	c.(46-48)aGt>aAt	p.S16N	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S16N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S16N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	16					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATACCATCAGTATAGTTGGA	0.393000													45	67					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209369	53209369	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53209369T>C	ENST00000543227.1	-	6	1213	c.939A>G	c.(937-939)aaA>aaG	p.K313K	ZNF611_ENST00000319783.1_Silent_p.K313K|ZNF611_ENST00000595798.1_Silent_p.K244K|ZNF611_ENST00000540744.1_Silent_p.K313K|ZNF611_ENST00000453741.2_Silent_p.K244K|ZNF611_ENST00000602162.1_Silent_p.K244K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGTAACGTTTTACTCCAG	0.403000													7	115					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900689	26900689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26900689G>A	ENST00000374168.2	+	22	2359	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	RPS6KA1_ENST00000374162.2_Silent_p.L643L|RPS6KA1_ENST00000374166.4_Silent_p.L724L|RPS6KA1_ENST00000526792.1_Silent_p.L643L|RPS6KA1_ENST00000531382.1_Silent_p.L744L|RPS6KA1_ENST00000530003.1_Silent_p.L719L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	735					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCACCACCCTGTGAGGCACCA	0.642000													6	42					0	0	1	0	0
PSMB2	5690	broad.mit.edu	37	1	36102014	36102014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36102014C>A	ENST00000373237.3	-	2	522	c.111G>T	c.(109-111)aaG>aaT	p.K37N		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTTCACTCATCTTAAACATCT	0.358000													37	65					3.78316e-11	4.70432e-11	1	1	0
HBBP1	0	broad.mit.edu	37	11	5264463	5264463	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5264463G>A	ENST00000454892.1	-	0	33					NR_001589.1																						CTTGCCATGTGCCTTGACTTT	0.488000													10	14					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661287	36661287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36661287G>A	ENST00000319136.4	+	7	720	c.453G>A	c.(451-453)caG>caA	p.Q151Q	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.Q117Q|APOL1_ENST00000347595.7_Silent_p.Q14Q|APOL1_ENST00000397279.4_Silent_p.Q135Q|APOL1_ENST00000397278.3_Silent_p.Q135Q|APOL1_ENST00000422706.1_Silent_p.Q135Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	135					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAGGCCAGCAGTACAGAAACT	0.473000													25	42					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17411728	17411728	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17411728T>C	ENST00000247706.3	-	2	937	c.698A>G	c.(697-699)gAc>gGc	p.D233G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	233							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTCGCATGTCCTCAGCCAG	0.622000													31	59					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918103	31918103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31918103T>C	ENST00000456570.1	+	24	3108	c.3053T>C	c.(3052-3054)gTg>gCg	p.V1018A	CFB_ENST00000556679.1_Missense_Mutation_p.V1018A|CFB_ENST00000477310.1_Missense_Mutation_p.V867A|CFB_ENST00000425368.2_Missense_Mutation_p.V516A			P00751	CFAB_HUMAN	complement factor B	516					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGGCTGTGGTGTCTGAGTAC	0.502000													3	39					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783816	11783816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783816G>T	ENST00000337339.2	+	9	1166	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MSL3_ENST00000361672.2_Missense_Mutation_p.S231I|MSL3_ENST00000380693.3_Missense_Mutation_p.S214I|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000312196.4_Missense_Mutation_p.S380I|MSL3_ENST00000398527.2_Missense_Mutation_p.S368I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	380					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACATCCGCCAGCATGCCCAAG	0.607000													34	66					2.42023e-17	3.13592e-17	1	1	0
FKBP9	11328	broad.mit.edu	37	7	33039868	33039868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33039868C>T	ENST00000242209.4	+	8	1537	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.G318G|FKBP9_ENST00000538336.1_Silent_p.G509G|FKBP9_ENST00000490776.2_Silent_p.G224G	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	456	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAAGCTGGCGTGGGTGAGT	0.527000													8	26					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55408345	55408345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55408345G>T	ENST00000360586.3	-	26	3318	c.3253C>A	c.(3253-3255)Cgt>Agt	p.R1085S	WDHD1_ENST00000421192.1_Missense_Mutation_p.R962S|WDHD1_ENST00000359167.4_Missense_Mutation_p.R603S|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1085						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373000													21	41					2.39556e-15	3.07139e-15	1	1	0
GIMAP5	55340	broad.mit.edu	37	7	150439967	150439967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150439967C>T	ENST00000358647.3	+	3	1107	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTACCAGGCCAAAGTGGAA	0.552000													45	39					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765762	77765762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765762T>C	ENST00000521891.2	+	10	7053	c.6605T>C	c.(6604-6606)gTt>gCt	p.V2202A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2176A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2157A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2157A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTATAACGGTTTTAGAAGAT	0.358000										HNSCC(33;0.089)			46	68					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421519	1421519	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421519C>T	ENST00000308647.7	+	10	1109	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	331							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAGCAA	0.647000													13	44					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363603	108363603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108363603G>T	ENST00000361582.3	+	14	1964	c.1734G>T	c.(1732-1734)caG>caT	p.Q578H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q578H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	578					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAATCATACAGAGGATGTTAT	0.398000													6	76					4.096e-09	4.95403e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089734	9089734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9089734G>A	ENST00000397910.4	-	1	2284	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	694	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGGCTGGTTCCTTCCCT	0.498000													28	53					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	158261971	158261971	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158261971G>A	ENST00000464171.1	+	9	863		c.e9-1		RSRC1_ENST00000295930.3_Splice_Site|RSRC1_ENST00000312179.6_Splice_Site|RSRC1_ENST00000475278.2_Splice_Site|RSRC1_ENST00000480820.1_Splice_Site	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTATTTCAGTTATTTATCG	0.343000													24	39					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617819	100617819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617819C>T	ENST00000267294.4	-	2	2037	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	602					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTCCAGCACAGGGGACAAG	0.617000													28	54					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139911	44139911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:44139911C>T	ENST00000395797.1	-	3	597	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF32_ENST00000374433.2_Missense_Mutation_p.E137K|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCCACACTCCTTGCACTGA	0.498000													18	32					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88705694	88705694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88705694C>T	ENST00000244241.4	+	2	361	c.312C>T	c.(310-312)cgC>cgT	p.R104R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	104					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCCACCAGCGCTCCATCTCAC	0.697000													3	25					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229763385	229763385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229763385C>T	ENST00000258243.2	+	2	141	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	2						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTAGCCATGGCTGCTGTTTAT	0.378000													8	65					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53861626	53861626	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53861626G>A	ENST00000603815.1	+	12	1187	c.838_splice	c.e12+1	p.W279_splice	PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000548933.1_Splice_Site_p.W248_splice|PCBP2_ENST00000359282.5_Splice_Site_p.W244_splice|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Splice_Site_p.W279_splice|PCBP2_ENST00000552296.2_Splice_Site_p.W275_splice|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000439930.3_Splice_Site_p.W279_splice|PCBP2_ENST00000447282.1_Splice_Site_p.W248_splice|PCBP2_ENST00000549863.1_Splice_Site_p.W234_splice|PCBP2_ENST00000546463.1_Splice_Site_p.W275_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	279					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAGGCTATTGGGGTAATGATT	0.378000													6	101					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	265475	265475	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:265475A>C	ENST00000261600.6	-	2	117	c.110T>G	c.(109-111)tTc>tGc	p.F37C	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	37					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACCTGGCTGAAGGTACTTAA	0.343000													7	4					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229611	3229611	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229611C>T	ENST00000217939.6	-	7	6787	c.6633G>A	c.(6631-6633)gtG>gtA	p.V2211V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2211	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCCGTCACTGATTTCA	0.453000													10	75					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161014	90161014	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90161014G>A	ENST00000567960.1	+	0	244				TUBB8P7_ENST00000564451.1_RNA																							GGGGCCCTTCGGGCAGGTCTT	0.667000													23	64					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10906267	10906267	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10906267G>T	ENST00000283141.6	+	9	952	c.656G>T	c.(655-657)aGg>aTg	p.R219M	SYCP2L_ENST00000543878.1_Missense_Mutation_p.R60M|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	219						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCTTGCAAGGACACTCTTG	0.338000													11	150					9.31168e-06	1.06029e-05	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58133519	58133519	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58133519C>A	ENST00000184956.6	-	13	2175	c.2159G>T	c.(2158-2160)tGc>tTc	p.C720F	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	720							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCCCCCATGCACTTGCAAAT	0.428000													43	84					7.77092e-38	1.04706e-37	1	1	0
TRAV18	0	broad.mit.edu	37	14	22471692	22471692	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22471692A>G	ENST00000390446.3	+	0	220																											GGCAGCTCTGACATTAAACTG	0.443000													26	51					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568531	33568531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568531C>A	ENST00000262873.7	+	6	711	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	165	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAACGACATGCTGCGCAGTAA	0.642000													13	25					0.000308642	0.000336111	1	1	0
AR	367	broad.mit.edu	37	X	66766152	66766152	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66766152G>A	ENST00000374690.3	+	1	1688	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.K388K|AR_ENST00000504326.1_Silent_p.K388K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	386	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCGCATCAAGCTGGAGAACC	0.711000									Androgen Insensitivity Syndrome				3	2					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005469	63005469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63005469G>T	ENST00000251157.5	-	26	3173	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	DOCK7_ENST00000340370.5_Missense_Mutation_p.A1016D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1047					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTGACAAGAGCTGCAATGTC	0.383000													6	35					2.0095e-06	2.31757e-06	1	1	0
LRRC1	55227	broad.mit.edu	37	6	53762158	53762158	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53762158G>A	ENST00000370888.1	+	7	919		c.e7+1			NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATTACCTCAGGTAAGTGGTAA	0.368000													14	6					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33747045	33747045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33747045G>T	ENST00000403687.3	+	7	1132	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131I|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	131					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438000													9	86					2.17888e-05	2.45068e-05	1	1	0
VTI1B	10490	broad.mit.edu	37	14	68118192	68118192	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68118192T>C	ENST00000554659.1	-	6	950	c.609A>G	c.(607-609)acA>acG	p.T203T	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	203					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GCTTGTTGGTTGTCACTCTAC	0.458000													15	19					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587000													34	68					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1413223	1413223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1413223C>T	ENST00000381524.3	+	8	835	c.649C>T	c.(649-651)Cga>Tga	p.R217*	CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R84*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000355805.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTACAGAACGATTCAACCC	0.582000													25	162					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764050	110764050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764050C>T	ENST00000451085.1	+	4	2268	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	LRRN3_ENST00000422987.3_Missense_Mutation_p.R408W|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.R408W	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	408	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGAATGTTCGGCAAGTGCA	0.438000													6	107					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635123	87635123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87635123C>T	ENST00000376214.1	+	20	3113	c.2175C>T	c.(2173-2175)gtC>gtT	p.V725V	NTRK2_ENST00000323115.4_Silent_p.V709V|NTRK2_ENST00000376213.1_Silent_p.V709V|NTRK2_ENST00000277120.3_Silent_p.V725V	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	709	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCCCAGGTCGGTGGCCACA	0.567000										TSP Lung(25;0.17)			39	50					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122591370	122591370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122591370C>A	ENST00000261038.5	+	8	1645	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	416					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAAGGAATTACTTGTGGAGTT	0.333000													56	79					1.19403e-26	1.59107e-26	1	1	0
FAT4	79633	broad.mit.edu	37	4	126355525	126355525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126355525G>T	ENST00000394329.3	+	7	7157	c.7144G>T	c.(7144-7146)Gat>Tat	p.D2382Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D680Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2382	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGGAACAGATGTTTTATT	0.368000													31	63					1.88708e-17	2.44853e-17	1	1	0
USH2A	7399	broad.mit.edu	37	1	215802181	215802181	+	Missense_Mutation	SNP	G	G	A	rs146892520	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215802181G>A	ENST00000366943.2	-	72	15952	c.15566C>T	c.(15565-15567)gCc>gTc	p.A5189V	USH2A_ENST00000307340.3_Missense_Mutation_p.A5165V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5165					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCATGATGGCTTCCCACAG	0.493000										HNSCC(13;0.011)			32	63					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781930	76781930	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76781930A>G	ENST00000287239.4	+	16	3802	c.3313A>G	c.(3313-3315)Aat>Gat	p.N1105D	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.N813D|KAT6B_ENST00000372711.1_Missense_Mutation_p.N922D|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.N813D|KAT6B_ENST00000372714.1_Missense_Mutation_p.N813D	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1105					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										agaagaagaaAATATTCAAAG	0.448000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	38					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497044	124497044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124497044G>T	ENST00000539644.1	+	6	2183	c.353G>T	c.(352-354)aGt>aTt	p.S118I	ZNF664_ENST00000337815.4_Missense_Mutation_p.S118I|ZNF664_ENST00000392404.3_Missense_Mutation_p.S118I|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.S118I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TATGTCTGTAGTGAGTGTGGA	0.448000													7	113					0.00198382	0.00210581	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170028083	170028083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170028083C>T	ENST00000284637.9	-	11	2754	c.2413G>A	c.(2413-2415)Gca>Aca	p.A805T		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	805						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGGGAACTGCGGAGTCCAGG	0.592000													5	76					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318784	6318784	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:6318784C>T	ENST00000264870.3	-	2	379	c.114G>A	c.(112-114)cgG>cgA	p.R38R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	38		Cleavage; by thrombin; to produce active factor XIII-A.			peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTTGACGCCCCGGGGCACCA	0.622000													38	85					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48732511	48732511	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48732511G>A	ENST00000431721.2	-	3	616	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L72L|IP6K2_ENST00000417896.1_Silent_p.L72L|IP6K2_ENST00000446860.1_Silent_p.L130L|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Silent_p.L72L|IP6K2_ENST00000443964.1_Silent_p.L131L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000340879.4_Intron	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	158					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCCTCCAGCAGCTGGGACTTA	0.597000													5	48					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51809233	51809233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51809233C>T	ENST00000579534.1	+	6	966	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	POLI_ENST00000217800.5_Missense_Mutation_p.L149F|POLI_ENST00000406285.3_Missense_Mutation_p.L196F|POLI_ENST00000579434.1_Missense_Mutation_p.L172F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	275					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCCAAATGTCTTGAAGCACT	0.303000								DNA polymerases (catalytic subunits)					3	3					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37100621G>A	ENST00000563167.1	+	2	259	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	C15orf41_ENST00000338183.4_Silent_p.T173T|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562489.1_Silent_p.T95T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000562877.1_Silent_p.T173T|C15orf41_ENST00000567389.1_Silent_p.T173T|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000566621.1_Silent_p.T271T			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	0							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493000													12	23					0	0	1	0	0
CDK2	1017	broad.mit.edu	37	12	56361852	56361852	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56361852A>G	ENST00000266970.4	+	3	454	c.214A>G	c.(214-216)Aca>Gca	p.T72A	CDK2_ENST00000440311.2_Missense_Mutation_p.T46A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000354056.4_Missense_Mutation_p.T72A|CDK2_ENST00000553376.1_Missense_Mutation_p.T72A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	72	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGTCATTCACACAGAAAATAA	0.438000													6	104					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145524035	145524035	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145524035G>A	ENST00000394434.2	-	17	1821	c.1655_splice	c.e17+1	p.T552_splice	LARS_ENST00000545646.1_Splice_Site_p.T506_splice|LARS_ENST00000274562.9_Splice_Site_p.T525_splice|LARS_ENST00000510191.1_Splice_Site_p.T498_splice	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	552					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCATCTTACGTTTCCAGGTT	0.363000													24	70					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67401011	67401011	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67401011G>A	ENST00000329956.6	+	8	865	c.846G>A	c.(844-846)aaG>aaA	p.K282K	LRRC36_ENST00000435835.3_Silent_p.K161K|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Silent_p.K14K|LRRC36_ENST00000563189.1_Silent_p.K161K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	282										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGGACAATAAGTCTTCAGGTT	0.433000													56	72					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155345	151155345	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151155345C>A	ENST00000282466.3	-	6	7003	c.7004G>T	c.(7003-7005)aGa>aTa	p.R2335I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2335					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTCGGTCTTCTCAGCATTTC	0.438000													7	142					1.12685e-05	1.27857e-05	1	1	0
KPNA2	3838	broad.mit.edu	37	17	66040087	66040087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66040087C>T	ENST00000537025.2	+	8	1684	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	KPNA2_ENST00000330459.3_Missense_Mutation_p.A355V			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	355	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAGGAAGCTACGTGGACA	0.493000													62	109					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150739132	150739132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150739132G>A	ENST00000358849.4	+	14	1795	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.A585T|ABCB8_ENST00000498578.1_Missense_Mutation_p.A568T|ABCB8_ENST00000542328.1_Missense_Mutation_p.A480T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	585	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACACAGCCGCCCGGGAAGC	0.607000													25	66					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55973781	55973781	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55973781A>T	ENST00000373965.2	-	10	1407	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	PCDH15_ENST00000373957.3_Missense_Mutation_p.F316Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.F301Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.F338Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.F338Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.F316Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.F343Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.F338Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGCATATGGAAAAATCGTGG	0.368000										HNSCC(58;0.16)			4	70					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67752295	67752295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67752295G>A	ENST00000396596.1	+	11	1013	c.799G>A	c.(799-801)Gct>Act	p.A267T	SGK3_ENST00000345714.4_Missense_Mutation_p.A267T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.A267T|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.A267T|SGK3_ENST00000521198.2_Missense_Mutation_p.A267T|SGK3_ENST00000522398.1_Missense_Mutation_p.A267T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	267	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGGTTTTACGCTGCTGAAAT	0.368000													31	50					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348158	120348158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120348158G>A	ENST00000397843.2	+	36	3621	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1049E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1133E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCTACAGAGGAGATAATGAT	0.353000			T	MLL	AML								18	31					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255390	9255390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9255390C>T	ENST00000383440.2	+	8	2313	c.2056C>T	c.(2056-2058)Ctc>Ttc	p.L686F	ANKRD12_ENST00000262126.3_Missense_Mutation_p.L709F|ANKRD12_ENST00000400020.3_Missense_Mutation_p.L686F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	709						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaCTGAAGATCTCTTTTTAAA	0.294000													11	9					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66430419	66430419	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66430419C>T	ENST00000404260.3	+	18	2612	c.2304C>T	c.(2302-2304)gaC>gaT	p.D768D	MAST4_ENST00000403625.2_Silent_p.D765D|MAST4_ENST00000403666.1_Silent_p.D576D|MAST4_ENST00000405643.1_Silent_p.D586D|MAST4_ENST00000261569.7_Silent_p.D571D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	768	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGGTGGACTGGTGGGCCA	0.453000													11	95					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68301880	68301880	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68301880G>A	ENST00000487270.1	+	4	330	c.282G>A	c.(280-282)ctG>ctA	p.L94L	RAD51B_ENST00000487861.1_Silent_p.L94L|RAD51B_ENST00000471583.1_Silent_p.L94L|RAD51B_ENST00000488612.1_Silent_p.L94L|RAD51B_ENST00000390683.3_Silent_p.L94L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	94					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACGAAGCCCTGCATGGTGGTG	0.418000								Direct reversal of damage					17	27					0	0	1	0	0
ESR2	0	broad.mit.edu	37	14	64700034	64700034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64700034C>T	ENST00000341099.4	-	9	1831	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	ESR2_ENST00000553796.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.G381S|ESR2_ENST00000554572.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	472	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTTCCATGCCCTTGTTACTA	0.552000													5	94					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129626	149129626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149129626G>A	ENST00000247930.4	-	6	2060	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGATCTCGCATTCGGCGC	0.627000													21	25					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919576	26919576	+	Missense_Mutation	SNP	C	C	T	rs141766452	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919576C>T	ENST00000321765.5	-	3	1018	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	229					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TAAGTCCTCACGCACAGCCTC	0.493000													28	57					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104869616	104869616	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104869616T>C	ENST00000393141.2	-	7	1162	c.1131A>G	c.(1129-1131)acA>acG	p.T377T	CASP5_ENST00000531367.1_Silent_p.T222T|CASP5_ENST00000260315.3_Silent_p.T364T|CASP5_ENST00000526056.1_Silent_p.T377T|CASP5_ENST00000444749.2_Silent_p.T306T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Silent_p.T222T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	364					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACATACGTGGTGTTGAAGAAC	0.443000													7	102					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827157	1827157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1827157C>T	ENST00000566339.1	-	7	1339	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SPSB3_ENST00000301717.4_Missense_Mutation_p.A337T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	337					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGGGGTGGGCGGAGGTCGCT	0.672000													30	28					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081145	54081145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54081145G>A	ENST00000253144.9	+	7	2664	c.1331G>A	c.(1330-1332)tGc>tAc	p.C444Y	ZNF331_ENST00000449416.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.C444Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTAAGGAGTGCGGGAAGGCA	0.488000			T	?	follicular thyroid adenoma								13	15					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36986260	36986260	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36986260C>T	ENST00000457137.2	+	6	786	c.558C>T	c.(556-558)agC>agT	p.S186S	VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	0						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGGAGATAGCGGAGAAATTA	0.468000													14	30					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811844	122811844	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122811844T>A	ENST00000194130.2	-	3	382	c.343A>T	c.(343-345)Atg>Ttg	p.M115L	SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	115						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACACCAACCATCATCACCATT	0.358000													72	166					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914862	236914862	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236914862G>T	ENST00000366578.4	+	15	1915	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	ACTN2_ENST00000546208.1_Missense_Mutation_p.E77D|ACTN2_ENST00000542672.1_Missense_Mutation_p.E583D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	583					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGTGGAGAAGGTGATTC	0.577000													9	57					1.76689e-08	2.11513e-08	1	1	0
MYH10	4628	broad.mit.edu	37	17	8393675	8393675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8393675G>A	ENST00000360416.3	-	35	5005	c.4867C>T	c.(4867-4869)Cgg>Tgg	p.R1623W	MYH10_ENST00000269243.4_Missense_Mutation_p.R1592W|MYH10_ENST00000396239.1_Missense_Mutation_p.R1613W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1608W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1592					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATCAGCAGCCGCTTCTTCTCT	0.557000													6	83					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	rs150299321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453000													85	128					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18226218	18226218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18226218G>A	ENST00000406438.3	+	2	3128	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	883										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGCCAGCCGCCAGATGAGC	0.577000													16	24					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005136	187005136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005136G>T	ENST00000296795.2	+	4	2400	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D489Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	766	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTATAAAGATAAGGATTG	0.368000													51	74					1.19451e-25	1.58886e-25	1	1	0
CYP4X1	260293	broad.mit.edu	37	1	47501531	47501531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501531G>T	ENST00000371901.3	+	5	796	c.546G>T	c.(544-546)gaG>gaT	p.E182D	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E181D	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	182						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGGTCTATGAGCACATCAACT	0.483000													20	28					8.04996e-18	1.04647e-17	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3469442	3469442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3469442C>T	ENST00000324266.5	+	9	1947	c.1752C>T	c.(1750-1752)agC>agT	p.S584S	TRAPPC12_ENST00000382110.2_Silent_p.S584S|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	584							binding										AGCTGCTCAGCGGCATCGGCC	0.522000													9	67					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681702	142681702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142681702C>T	ENST00000340634.3	-	1	476	c.477G>A	c.(475-477)gcG>gcA	p.A159A		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCTGATGGACGCGTAGTCCA	0.612000													6	11					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715121	55715121	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55715121C>A	ENST00000379668.2	+	1	776	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	246			V -> I (in dbSNP:rs7132916).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGTTGTTGTCTCCATCTCTT	0.403000													33	50					2.54651e-27	3.39717e-27	1	1	0
GK5	256356	broad.mit.edu	37	3	141901842	141901842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141901842C>A	ENST00000392993.2	-	10	1017	c.866G>T	c.(865-867)gGt>gTt	p.G289V		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	289					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCACATCACCTGTCTGGAA	0.413000													5	69					0.184627	0.186383	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247836050	247836050	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836050G>T	ENST00000359688.2	-	1	315	c.294C>A	c.(292-294)ctC>ctA	p.L98L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGAACAAGAAGAGCTGGGACA	0.468000													16	19					2.32078e-09	2.82054e-09	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139395022	139395022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139395022G>A	ENST00000277541.6	-	31	5991	c.5916C>T	c.(5914-5916)gaC>gaT	p.D1972D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1972					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACCTTGTGCGTCGGCAGACA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			36	59					0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114860793	114860793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114860793G>A	ENST00000274457.3	-	3	1627	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	356						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTGATGCATCGTTTGAAATTT	0.403000													52	84					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083711	21083711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21083711G>A	ENST00000255882.6	-	39	4658	c.4572C>T	c.(4570-4572)agC>agT	p.S1524S	PI4KA_ENST00000572273.1_Silent_p.S1466S|PI4KA_ENST00000414196.3_Silent_p.S276S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1466					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTGGCCACGCTGTTCTCTC	0.562000													8	13					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35068295	35068295	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35068295C>G	ENST00000358901.6	-	2	977	c.82G>C	c.(82-84)Gtt>Ctt	p.V28L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	28					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTCATCAACAATTAACCGA	0.453000													20	342					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65038691	65038691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65038691G>A	ENST00000394156.3	-	3	535	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	CDH11_ENST00000268603.4_Missense_Mutation_p.R28W|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	28					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTGCCCCCGCCGCTCTGGG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	4					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099605	120099605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120099605G>A	ENST00000328965.4	+	4	1089	c.576G>A	c.(574-576)ctG>ctA	p.L192L	OAF_ENST00000531220.1_Silent_p.L76L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	192										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCGAGGCTCTGCCCAAGGCCT	0.677000													11	20					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043260	71043260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71043260C>A	ENST00000272367.2	-	4	1329	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S418I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	418					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATCTCGGCACTGGCCTTCTG	0.498000													4	46					1	1	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152827665	152827665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152827665C>A	ENST00000370186.1	+	18	3408	c.3082C>A	c.(3082-3084)Ctg>Atg	p.L1028M	ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1028M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1042M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1028M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L1042M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L1042M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1042					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGTGCCTGTTTGTTGG	0.587000													68	80					2.18329e-32	2.92945e-32	1	1	0
CCL11	6356	broad.mit.edu	37	17	32614187	32614187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32614187G>T	ENST00000305869.3	+	2	290	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	50					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAGAGCTACAGGAGAATCACC	0.443000													5	38					0.184627	0.186383	1	1	0
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3835383G>A	ENST00000428216.2	+	2	240	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MAVS_ENST00000358134.6_Missense_Mutation_p.D38N|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527000													18	26					0	0	1	0	0
BIN3	55909	broad.mit.edu	37	8	22481832	22481832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22481832C>T	ENST00000276416.6	-	7	451	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	BIN3_ENST00000519513.1_Missense_Mutation_p.R74Q|BIN3_ENST00000399977.4_Missense_Mutation_p.R80Q|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	128	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGTTCCCGCCTCTTCAC	0.607000													9	33					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967869	190967869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190967869G>A	ENST00000339051.1	+	3	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	121					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TATCCCCATGGATCGGATTGG	0.353000													37	58					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843361	4843361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4843361G>A	ENST00000322110.5	+	1	811	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGAGGCGGAAAGCCTTC	0.502000													24	38					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69804316	69804316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69804316C>G	ENST00000395198.3	-	4	478	c.231G>C	c.(229-231)caG>caC	p.Q77H	HERC4_ENST00000373700.4_Missense_Mutation_p.Q77H|HERC4_ENST00000412272.2_Missense_Mutation_p.Q77H|HERC4_ENST00000395187.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	77					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGGCAACAACCTGCTCTACAG	0.393000													9	90					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19708066	19708066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19708066C>T	ENST00000395544.4	-	15	1734	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ULK2_ENST00000361658.2_Missense_Mutation_p.R412H|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	412					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTCTATGCGCTGATAATT	0.403000													33	34					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134124246	134124246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134124246C>A	ENST00000452510.2	+	12	1666	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.P503H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	503	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGCACACCTGGTCGAATG	0.308000													14	129					1.05317e-09	1.28483e-09	1	1	0
GRID2	2895	broad.mit.edu	37	4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94032058C>T	ENST00000282020.4	+	4	947	c.689C>T	c.(688-690)gCg>gTg	p.A230V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.A135V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388000													32	77					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286763	31286763	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286763C>A	ENST00000332585.6	+	8	1776	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	OSBP2_ENST00000382310.3_Missense_Mutation_p.L509M|OSBP2_ENST00000403222.3_Missense_Mutation_p.L392M|OSBP2_ENST00000446658.2_Missense_Mutation_p.L557M|OSBP2_ENST00000407373.1_Missense_Mutation_p.L385M|OSBP2_ENST00000401475.1_Missense_Mutation_p.L191M|OSBP2_ENST00000535268.1_Missense_Mutation_p.L102M|OSBP2_ENST00000437268.2_Missense_Mutation_p.L300M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	558					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACAGAGGACCTGGAGTACCA	0.627000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	20					0.307466	0.308846	1	1	0
MKI67	4288	broad.mit.edu	37	10	129901141	129901141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901141T>C	ENST00000368654.3	-	13	9338	c.8963A>G	c.(8962-8964)aAc>aGc	p.N2988S	MKI67_ENST00000368653.3_Missense_Mutation_p.N2628S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2988					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGGAAGTGTTGCTTTTGCT	0.532000													14	98					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622065	7622065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7622065C>T	ENST00000221249.6	+	30	3609	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1108W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1098W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1033W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1060W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1099	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCCTGTGGCGGTACGTGCG	0.667000													13	28					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004373	145004373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145004373C>T	ENST00000322810.4	-	21	3131	c.2962G>A	c.(2962-2964)Gtg>Atg	p.V988M	PLEC_ENST00000354589.3_Missense_Mutation_p.V851M|PLEC_ENST00000345136.3_Missense_Mutation_p.V851M|PLEC_ENST00000354958.2_Missense_Mutation_p.V829M|PLEC_ENST00000356346.3_Missense_Mutation_p.V837M|PLEC_ENST00000357649.2_Missense_Mutation_p.V855M|PLEC_ENST00000527096.1_Missense_Mutation_p.V874M|PLEC_ENST00000436759.2_Missense_Mutation_p.V878M|PLEC_ENST00000398774.2_Missense_Mutation_p.V819M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	988	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGAGGGCACGGCGGCCTCG	0.716000													6	4					0	0	1	0	0
MSL3P1	0	broad.mit.edu	37	2	234775682	234775682	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775682T>G	ENST00000438684.1	-	0	432					NR_024322.1																						AAGGCTGCACTGATAGCAAAA	0.443000													4	42					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421701	124421701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124421701C>T	ENST00000545135.1	-	3	4145	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Silent_p.P300P|CCDC92_ENST00000545891.1_Silent_p.P283P			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	300										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGGCCTGCGGCGGGGTGGCGT	0.687000													15	17					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17822079	17822079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17822079C>T	ENST00000325083.8	+	18	3096	c.2657C>T	c.(2656-2658)aCg>aTg	p.T886M	PCM1_ENST00000519253.1_Missense_Mutation_p.T886M|PCM1_ENST00000524226.1_Missense_Mutation_p.T887M	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	886					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCACTAGAACGATGGCAACT	0.418000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								6	15					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	774778	774778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:774778C>T	ENST00000293889.6	-	8	773	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	223										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGCCTGACGGAGCTGGCC	0.647000													6	15					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46592989	46592989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46592989C>A	ENST00000395905.3	-	2	485	c.93G>T	c.(91-93)gaG>gaT	p.E31D	LRRC2_ENST00000296144.3_Missense_Mutation_p.E31D|LRRC2_ENST00000496388.1_Intron	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	31										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCCTTTCCACCTCCTTCTTCT	0.463000													25	54					4.4004e-07	5.144e-07	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18546978	18546978	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18546978C>T	ENST00000399799.1	-	27	4192	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1084					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATATCACTCTCTTTGCTGG	0.388000													6	125					0	0	1	0	0
GORASP1	64689	broad.mit.edu	37	3	39142345	39142345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39142345G>A	ENST00000319283.3	-	5	1280	c.459C>T	c.(457-459)atC>atT	p.I153I	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Silent_p.I58I	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	153					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATGAGACTCGATGAGCGTAA	0.542000											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	93					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242102714	242102714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242102714C>T	ENST00000234038.6	+	7	1086	c.612C>T	c.(610-612)atC>atT	p.I204I	PPP1R7_ENST00000404405.3_Silent_p.I198I|PPP1R7_ENST00000406106.3_Silent_p.I204I|PPP1R7_ENST00000402734.1_Silent_p.I145I|PPP1R7_ENST00000407025.1_Silent_p.I204I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Silent_p.I161I|PPP1R7_ENST00000401987.1_Silent_p.I161I	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	204						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCGAAAATATCGACACCTTAA	0.502000													96	180					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960347	183960347	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183960347C>T	ENST00000455059.1	-	9	1606	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.P368P|ALG3_ENST00000445626.2_Silent_p.P376P|ALG3_ENST00000397676.3_Silent_p.P424P			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	424					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.P424P(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAAGGCTGCGGGCCCAGCC	0.592000													8	13					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325249	47325249	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47325249T>C	ENST00000505841.1	-	0	1204					NR_002788.2																						AAATAACTGTTAAAGACATGA	0.398000													5	13					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96439386	96439386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96439386C>T	ENST00000602402.1	+	11	1451	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	DNAJC3_ENST00000376795.6_Missense_Mutation_p.A394V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	445	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGCAGCTGCTAAAGAAGTC	0.413000													33	81					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141707849	141707849	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141707849A>G	ENST00000389484.3	-	20	4062	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1031	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCCCACAGTCATTGTCA	0.398000										TSP Lung(27;0.18)			11	22					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915233	51915233	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51915233G>A	ENST00000524365.1	+	4	631	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SERPINE3_ENST00000400389.4_Silent_p.P2P|SERPINE3_ENST00000521255.1_Silent_p.P2P			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	2					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCATGCCGCCTTTCCTGA	0.552000													25	20					0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73851271	73851271	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73851271C>A	ENST00000585462.1	-	0	132				WBP2_ENST00000590450.1_Intron|WBP2_ENST00000590221.1_Intron|WBP2_ENST00000591399.1_Intron|WBP2_ENST00000433525.2_Intron|WBP2_ENST00000344296.4_Intron|WBP2_ENST00000254806.3_Intron			Q969T9	WBP2_HUMAN	WW domain binding protein 2								protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCACTTCCTCGACACCCG	0.602000													24	100					6.36457e-07	7.41396e-07	1	1	0
PCNXL4	64430	broad.mit.edu	37	14	60574564	60574564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60574564T>C	ENST00000406854.1	+	2	762	c.208T>C	c.(208-210)Tat>Cat	p.Y70H	PCNXL4_ENST00000391611.2_Missense_Mutation_p.Y70H|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.Y70H|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)																		CCTGAAAGACTATTATACAGC	0.368000													4	32					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749692C>T	ENST00000395052.3	+	4	2137	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	635					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGTACCTTACGGCGTCTTGG	0.587000													21	39					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107288394	107288394	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107288394C>T	ENST00000415430.3	+	1	195	c.34C>T	c.(34-36)Cta>Tta	p.L12L	VSIG1_ENST00000217957.5_Silent_p.L12L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	12						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTGATCCTAAGCTGCCT	0.408000													8	15					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32637485	32637485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32637485C>A	ENST00000335185.5	-	15	1419		c.e15+1		CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAAGGTTACCATCTATAAT	0.264000													4	11					0.00909568	0.00947522	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5347924	5347924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5347924G>A	ENST00000399537.4	-	30	9068	c.8720C>T	c.(8719-8721)tCg>tTg	p.S2907L	TNRC18_ENST00000430969.1_Missense_Mutation_p.S2907L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCCACATGCGAGGACTGGTA	0.627000													14	6					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50867246	50867246	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50867246A>G	ENST00000398473.2	+	14	1706	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	LARP4_ENST00000293618.8_Missense_Mutation_p.T461A|LARP4_ENST00000518444.1_Missense_Mutation_p.T531A|LARP4_ENST00000429001.3_Missense_Mutation_p.T538A|LARP4_ENST00000347328.5_Missense_Mutation_p.T461A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	532							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGATGAGCAGACAGAATGCAC	0.383000													5	49					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131194	130131194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130131194G>T	ENST00000525842.1	-	2	942	c.575C>A	c.(574-576)cCt>cAt	p.P192H	ZBTB44_ENST00000530205.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P192H|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P192H	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGACTTTCAGGAGACATAAC	0.463000													6	52					0.00198382	0.00210581	1	1	0
AXIN2	8313	broad.mit.edu	37	17	63532578	63532578	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63532578G>A	ENST00000307078.5	-	8	2314	c.2001C>T	c.(1999-2001)agC>agT	p.S667S	AXIN2_ENST00000375702.5_Silent_p.S602S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	667					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGGTGCCCGCTGTTGCCCC	0.667000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				14	18					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8717989	8717989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8717989T>C	ENST00000534127.1	-	21	3662	c.3277A>G	c.(3277-3279)Aag>Gag	p.K1093E	ST5_ENST00000530991.1_Missense_Mutation_p.K565E|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.K606E|ST5_ENST00000526757.1_Missense_Mutation_p.K673E|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.K284E|ST5_ENST00000530438.1_Missense_Mutation_p.K673E|ST5_ENST00000357665.1_Missense_Mutation_p.K1093E|ST5_ENST00000313726.6_Missense_Mutation_p.K1093E	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1093					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCCGACACTTTCTTAGCTCC	0.483000													5	322					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101818	21101818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21101818C>T	ENST00000377122.4	-	24	2794	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	800					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458000													7	46					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6658995	6658995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6658995C>T	ENST00000436152.2	-	5	636	c.77G>A	c.(76-78)cGc>cAc	p.R26H	IFFO1_ENST00000356896.4_Missense_Mutation_p.R333H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R333H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R333H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R26H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	333						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGTCGATGCGGCGGCAGAT	0.597000													10	20					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089730	57089730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089730G>T	ENST00000330619.8	+	6	2619	c.1933G>T	c.(1933-1935)Gga>Tga	p.G645*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.G645*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATTCATACAGGAGAGAAACC	0.413000													8	46					5.18039e-06	5.91835e-06	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130815253	130815253	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815253C>T	ENST00000509018.1	-	16	2239	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	RAPGEF6_ENST00000307984.5_Silent_p.K678K|RAPGEF6_ENST00000507093.1_Silent_p.K678K|RAPGEF6_ENST00000308008.6_Silent_p.K678K|RAPGEF6_ENST00000512052.1_Silent_p.K393K|RAPGEF6_ENST00000296859.6_Silent_p.K678K|RAPGEF6_ENST00000510071.1_Silent_p.K678K|FNIP1_ENST00000514667.1_Silent_p.K728K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	678					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATCCAAAATCTTCCTGATTT	0.373000													32	51					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184601408	184601408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184601408C>A	ENST00000334690.6	+	10	1303	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	TRAPPC11_ENST00000357207.4_Silent_p.L367L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	367																	CAAAAACCCTCTGTAACCACG	0.383000													33	46					1.21669e-08	1.46242e-08	1	1	0
APBB1	322	broad.mit.edu	37	11	6432549	6432549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432549G>A	ENST00000389906.2	-	2	128	c.29C>T	c.(28-30)tCg>tTg	p.S10L	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.S10L|APBB1_ENST00000311051.3_Missense_Mutation_p.S10L	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	10					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTAATGGCCGACTGGCTCAG	0.617000													38	71					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109644624	109644624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109644624G>A	ENST00000338432.7	+	20	3142	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	ACACB_ENST00000377848.3_Missense_Mutation_p.S1008N|ACACB_ENST00000377854.5_Missense_Mutation_p.S1008N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1008					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACGTCATGAGTGGCTTTTGT	0.547000													34	57					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74842262	74842262	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74842262G>T	ENST00000290536.5	-	3	371	c.255C>A	c.(253-255)aaC>aaA	p.N85K	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.N85K|M1AP_ENST00000536235.1_Missense_Mutation_p.N85K	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ACCTAGCAAAGTTCCCTTTCA	0.428000													37	52					2.35968e-33	3.16934e-33	1	1	0
AKAP8	10270	broad.mit.edu	37	19	15484809	15484809	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15484809G>A	ENST00000269701.2	-	4	219	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	53					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGCTGGGCCGTAGCTGTAGG	0.622000													15	35					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16591453	16591453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16591453A>C	ENST00000269881.3	-	8	1045	c.983T>G	c.(982-984)tTt>tGt	p.F328C	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	328	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGCCTTGCCAAAATTATCTGC	0.368000													15	14					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281259	6281259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6281259T>C	ENST00000525462.1	+	1	104	c.101T>C	c.(100-102)gTg>gCg	p.V34A	CCKBR_ENST00000334619.2_Missense_Mutation_p.V34A|CCKBR_ENST00000531712.1_Missense_Mutation_p.V34A|CCKBR_ENST00000532715.1_Missense_Mutation_p.V34A|CCKBR_ENST00000525014.1_Missense_Mutation_p.V34A			P32239	GASR_HUMAN	cholecystokinin B receptor	34					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCAGCAGTGTGGGCAACCTC	0.682000													4	8					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645746	215645746	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215645746C>A	ENST00000260947.4	-	4	986	c.852G>T	c.(850-852)gaG>gaT	p.E284D	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.E140D	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	284					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTCTATTTGCTCAGCCAATG	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				35	58					4.4194e-11	5.49217e-11	1	1	0
FAM20C	56975	broad.mit.edu	37	7	195656	195656	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:195656C>T	ENST00000313766.5	+	2	939	c.708C>T	c.(706-708)taC>taT	p.Y236Y	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	236						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCAACCGGTACGAGCTGTACT	0.617000													51	24					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58678106	58678106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58678106C>A	ENST00000254286.4	+	5	519	c.439C>A	c.(439-441)Ctg>Atg	p.L147M		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	147						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAGGGAAAGCCTGGTGTTACC	0.383000													60	105					5.5144e-22	7.27086e-22	1	1	0
C9	735	broad.mit.edu	37	5	39341683	39341683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39341683G>A	ENST00000263408.4	-	3	398	c.303C>T	c.(301-303)tgC>tgT	p.C101C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	101	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCATTTCCGCAGTCATCCT	0.448000													16	32					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160275249	160275249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160275249G>A	ENST00000241704.7	-	17	1870	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	COPA_ENST00000368069.3_Silent_p.N556N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	547					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTGATGTGGTTGCTTGTGG	0.428000													9	105					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4029158	4029158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029158C>T	ENST00000294016.3	-	8	3176	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	880					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGAGTAGACGGCCAGTGCG	0.572000													20	44					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22181426	22181426	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181426C>T	ENST00000374695.3	-	48	6127	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2016	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTCAGCAGTCGTGATGGCTG	0.652000													13	20					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122641112	122641112	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122641112G>T	ENST00000195173.4	-	11	1758	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	SEMA5B_ENST00000451055.2_Silent_p.L539L|SEMA5B_ENST00000357599.3_Silent_p.L485L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667000													3	14					0.004672	0.0049138	1	1	0
B3GALT5	10317	broad.mit.edu	37	21	41033236	41033236	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41033236C>T	ENST00000380620.3	+	5	1342	c.750C>T	c.(748-750)ctC>ctT	p.L250L	B3GALT5_ENST00000380618.1_Silent_p.L250L|B3GALT5_ENST00000398714.2_Silent_p.L250L|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.L250L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	250					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTCTGCCTCGAAAGGCTGA	0.552000													43	54					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171247	214171247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171247G>A	ENST00000366958.4	+	2	1977	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	PROX1_ENST00000435016.1_Missense_Mutation_p.A457T|PROX1_ENST00000261454.4_Missense_Mutation_p.A457T|PROX1_ENST00000498508.2_Missense_Mutation_p.A457T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	457				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCCTGCCGCTGGCGGCCA	0.642000													9	86					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57255217	57255217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57255217C>T	ENST00000537866.1	+	10	1924	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R351C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	351	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAAAGTGTGCGTTGCACCTT	0.483000													51	81					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771489	150771489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150771489C>T	ENST00000485713.1	+	18	3834	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932W|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCAGATCCGGCGGGTGAT	0.602000													6	132					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6934736	6934736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6934736C>T	ENST00000311268.3	+	3	1742	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	GPR162_ENST00000428545.2_Silent_p.L35L|GPR162_ENST00000382315.3_Silent_p.L15L	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAGACGCTGCTGCTGCCCTC	0.637000											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678251	25678251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25678251G>A	ENST00000382051.3	+	13	2003	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	SLC34A2_ENST00000503434.1_Silent_p.A650A|SLC34A2_ENST00000504570.1_Silent_p.A650A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	651					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGAGGAGGCGCAGGAGGGGC	0.617000			T	ROS1	NSCLC								9	15					0	0	1	0	0
TMEM231	79583	broad.mit.edu	37	16	75573914	75573914	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75573914A>G	ENST00000398114.2	-	6	1054	c.1016T>C	c.(1015-1017)tTg>tCg	p.L339S	RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Missense_Mutation_p.L262S|TMEM231_ENST00000258173.6_Missense_Mutation_p.L310S	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	310						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCCTTACACAAGTCTCCCCG	0.483000													14	15					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65050168G>A	ENST00000226021.3	+	2	357	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542000													32	48					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982620	58982620	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58982620A>G	ENST00000536459.2	+	4	1470	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF324_ENST00000535298.1_Missense_Mutation_p.E31G|ZNF324_ENST00000196482.3_Missense_Mutation_p.E254G			O75467	Z324A_HUMAN	zinc finger protein 324	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACGCTGGGGAGAAGTCCTTC	0.632000													3	22					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132406144	132406144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132406144G>A	ENST00000304858.2	+	4	674	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	129					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGAGACAGCCGAAAGTGT	0.423000													33	59					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089168	31089168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089168G>A	ENST00000394979.2	+	1	1946	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R508H			O15015	ZN646_HUMAN	zinc finger protein 646	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGGCCCTGCGCAACCACGTG	0.642000													5	13					0	0	1	0	0
PCDHGB4	0	broad.mit.edu	37	5	140769033	140769033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140769033C>A	ENST00000519479.1	+	1	1582	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTCGAACTCACACTGCA	0.677000													17	31					5.3912e-06	6.15692e-06	1	1	0
MTMR2	8898	broad.mit.edu	37	11	95591744	95591744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95591744G>T	ENST00000393223.3	-	8	967	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	MTMR2_ENST00000352297.7_Missense_Mutation_p.S102Y|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.S174Y|MTMR2_ENST00000409459.1_Missense_Mutation_p.S102Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	174	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCAAATATGGATCTTCTTGT	0.323000													60	74					3.58576e-35	4.82413e-35	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227842667	227842667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227842667G>A	ENST00000343776.4	+	4	1061	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	ZNF678_ENST00000397097.3_Missense_Mutation_p.C294Y|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	294					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C239F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CCCTACAAATGCAAAGAATGT	0.388000													38	72					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687220	159687220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159687220G>A	ENST00000297267.9	+	21	5589	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1734R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAAGTTCGTGGGAGTTGTTCT	0.458000													32	54					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131703819	131703819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131703819G>A	ENST00000372592.3	+	12	1732	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PHYHD1_ENST00000421063.2_Missense_Mutation_p.A246T|PHYHD1_ENST00000308941.5_Silent_p.R259R|PHYHD1_ENST00000353176.5_Missense_Mutation_p.A246T|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.R21R	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CCTCATGGAGGCCTCTGGCAC	0.627000													7	89					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674949	9674949	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9674949G>A	ENST00000330255.4	-	6	807	c.795C>T	c.(793-795)acC>acT	p.T265T	DHRS7C_ENST00000571134.1_Silent_p.T264T	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	265						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCCTCCGCACGGTGCGCATCA	0.607000													4	3					0	0	1	0	0
RPSAP52	0	broad.mit.edu	37	12	66152554	66152554	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66152554A>G	ENST00000489520.2	-	0	389					NR_026825.2																						GGAGGATATGACACTGACATC	0.498000													4	11					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204599533	204599533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204599533G>A	ENST00000374481.3	+	5	531	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CD28_ENST00000374478.4_Silent_p.L68L|CD28_ENST00000458610.2_Silent_p.L201L|CD28_ENST00000324106.7_Silent_p.L187L			P10747	CD28_HUMAN	CD28 molecule	187	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGCTCCTGCACAGTGACT	0.567000													28	54					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749947	142749947	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142749947C>T	ENST00000418316.1	+	1	531	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCATGGCGACGTCATCAACC	0.542000													89	91					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17089983	17089983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17089983C>A	ENST00000361272.4	-	6	980	c.682G>T	c.(682-684)Gga>Tga	p.G228*	CNOT7_ENST00000523917.1_Nonsense_Mutation_p.G228*	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	228					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GAATCAGATCCTGCCTGATGT	0.398000													38	85					2.00842e-17	2.60578e-17	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81954830	81954830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81954830G>A	ENST00000359376.3	+	21	2477	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	755					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTCTACGACGTCAGCAGAAT	0.428000													21	44					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60641122	60641122	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60641122C>T	ENST00000278853.5	+	9	1446	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	482	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCAAGGGCGACAGCTACA	0.582000													34	65					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482768	23482768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23482768G>T	ENST00000376504.3	+	2	1124	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	307					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACCCCAGAAAACTCAAC	0.453000													55	85					1.53716e-24	2.03966e-24	1	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018220	211018220	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211018220C>T	ENST00000281772.9	-	2	1350	c.1088_splice	c.e2+1	p.V363_splice	KANSL1L_ENST00000452086.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000418791.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.V363_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363																	TGCACTTACACTGCCACATTT	0.353000													4	76					0	0	1	0	0
LINC00842	0	broad.mit.edu	37	10	47133418	47133418	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47133418C>A	ENST00000422732.2	-	0	435					NR_033957.1																						AAGTATAGGCCTCCATTGCCA	0.448000													7	120					0.307466	0.308846	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79339118	79339118	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79339118T>C	ENST00000419573.3	-	5	1122	c.848A>G	c.(847-849)cAc>cGc	p.H283R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H283R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	283	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACGTCGTCGTGTGTGATGGG	0.582000													28	52					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333218	70333218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70333218C>T	ENST00000338508.4	-	32	3182	c.3183G>A	c.(3181-3183)ccG>ccA	p.P1061P	SHANK2_ENST00000423696.2_Silent_p.P681P|SHANK2_ENST00000449833.2_Silent_p.P465P|SHANK2_ENST00000409161.1_Silent_p.P464P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	681					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGTGGCTCCGGGGCCTGGG	0.692000													21	36					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153588193	153588193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153588193G>A	ENST00000422373.1	-	23	4134	c.3886C>T	c.(3886-3888)Cgt>Tgt	p.R1296C	FLNA_ENST00000344736.4_Missense_Mutation_p.R1296C|FLNA_ENST00000360319.4_Missense_Mutation_p.R1296C|FLNA_ENST00000369850.3_Missense_Mutation_p.R1296C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1296					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGCCACACGGGCCTTGACG	0.622000													9	49					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021909	86021909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86021909G>A	ENST00000414626.2	+	1	1013	c.124G>A	c.(124-126)Gat>Aat	p.D42N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D62N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	62					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CGAAGCCATTGATCATATTTG	0.308000													4	24					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	54996915	54996915	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:54996915T>C	ENST00000216420.7	+	3	525	c.393T>C	c.(391-393)taT>taC	p.Y131Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	131					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.Y131*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATGCTCTGTATAGTGAATATC	0.373000													29	44					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38560897	38560897	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38560897G>A	ENST00000399017.2	+	39	7771		c.e39+1		TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGATTAGCCGGTATTGCAGTT	0.393000													10	25					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965820	35965820	+	Missense_Mutation	SNP	C	C	T	rs141076093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35965820C>T	ENST00000274278.3	-	4	868	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G171S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G137S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G117S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	171						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGTGGTG	0.443000													25	31					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790597	73790597	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73790597G>A	ENST00000223398.6	+	10	2193	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	CLIP2_ENST00000361545.5_Silent_p.S587S|CLIP2_ENST00000395060.1_Silent_p.S622S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	622						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCTGGCCTCGGACCACCAGA	0.622000													14	42					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245654	46245654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245654G>A	ENST00000334344.6	+	15	3920	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	ARID2_ENST00000444670.1_Missense_Mutation_p.A860T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.A1101T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGGAGGAAGCAAAGGAAGC	0.468000			"""N, S, F"""		hepatocellular carcinoma								14	25					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112337934	112337934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112337934G>A	ENST00000206423.3	-	4	3006	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.R685*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	685										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACCACTCGCATGGGCTTC	0.463000													6	36					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973474	64973474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64973474G>T	ENST00000399262.2	-	8	2671	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D	JMJD1C_ENST00000402544.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A636D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A599D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	818					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGGCATGAGCACTCTCTAG	0.527000													18	14					3.41278e-10	4.19267e-10	1	1	0
AVPI1	60370	broad.mit.edu	37	10	99439405	99439405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99439405G>A	ENST00000370626.3	-	2	825	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	86					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTAGCGAGTGGCCCAGGGGTT	0.617000													8	13					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646218	61646218	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61646218C>A	ENST00000540820.1	-	4	696	c.624_splice	c.e4+1	p.K208_splice	FADS3_ENST00000525588.1_Splice_Site_p.K180_splice|FADS3_ENST00000278829.2_Splice_Site_p.K208_splice|FADS3_ENST00000527697.1_Splice_Site_p.K84_splice			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	208					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCTCACCTTTAGCTGCC	0.642000													12	15					3.27435e-08	3.90559e-08	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67107013	67107013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67107013G>A	ENST00000284425.2	-	17	2375	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	734					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTAATTTAGCATCGGGGAT	0.303000													12	25					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101724669	101724669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724669A>G	ENST00000318607.5	-	7	2021	c.893T>C	c.(892-894)gTg>gCg	p.V298A	PABPC1_ENST00000519004.1_Missense_Mutation_p.V253A|PABPC1_ENST00000522387.1_Missense_Mutation_p.V266A|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	298	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGATTTTTCACATAAAGATT	0.333000													5	174					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682000													16	23					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94793134	94793134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94793134A>G	ENST00000453321.3	+	9	960	c.902A>G	c.(901-903)gAc>gGc	p.D301G	TMEM67_ENST00000409623.3_Missense_Mutation_p.D220G|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	301					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTATGGAGACCAGTTAGGA	0.318000													54	98					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413705	65413705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65413705G>A	ENST00000394224.3	+	7	1573	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	SIPA1_ENST00000534313.1_Missense_Mutation_p.R426H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R426H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R426H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	426	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTCCGGAAGCGCCACATTGGC	0.587000													44	32					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98186449	98186449	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98186449A>G	ENST00000306031.5	-	6	643	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	DPYD_ENST00000370192.3_Intron|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Intron	NM_001160301.1	NP_001153773.1	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	0					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGTCTTTACAAATGATTCATT	0.338000													3	26					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42729702	42729702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729702G>A	ENST00000549190.1	+	2	233	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PPHLN1_ENST00000432191.2_5'UTR|PPHLN1_ENST00000449194.2_5'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_5'UTR|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E7K|PPHLN1_ENST00000337898.6_5'UTR|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E7K|PPHLN1_ENST00000395568.2_5'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E7K			Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CAGAAGAGACGAAATGTGGTC	0.368000													26	46					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172065003	172065003	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172065003G>T	ENST00000336824.4	+	21	2465	c.2364_splice	c.e21-1	p.S789_splice	FNDC3B_ENST00000415807.2_Splice_Site_p.S789_splice|FNDC3B_ENST00000416957.1_Splice_Site_p.S789_splice	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	789	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTTCCAGAGTCCTGATAGT	0.413000													35	64					2.40579e-17	3.11917e-17	1	1	0
AIG1	51390	broad.mit.edu	37	6	143654485	143654485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143654485A>G	ENST00000357847.4	+	5	632	c.582A>G	c.(580-582)ggA>ggG	p.G194G	AIG1_ENST00000275235.4_Silent_p.G194G|AIG1_ENST00000344492.5_Silent_p.G142G	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	194						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTGGCCCAGGAGCCAGAATCA	0.468000													89	85					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3596444	3596444	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:3596444C>A	ENST00000302006.3	+	1	277	c.225C>A	c.(223-225)aaC>aaA	p.N75K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGCGCCCAACTACAGCGCCT	0.746000													4	7					0.150653	0.152692	1	1	0
TCTEX1D2	255758	broad.mit.edu	37	3	196043050	196043050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196043050G>A	ENST00000325318.5	-	2	301	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	56							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCATTTGCCAGTTCCTCCTTG	0.403000													19	19					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100843121	100843121	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100843121C>T	ENST00000210444.5	+	5	697	c.627C>T	c.(625-627)gaC>gaT	p.D209D	TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTTTCCTGACATTCCCATAG	0.428000													7	115					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119501064	119501064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119501064G>A	ENST00000368468.3	-	13	2323	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	628					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAGATCCAATGCTCCAGTGGA	0.378000													25	46					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978850	91978850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91978850C>T	ENST00000420987.1	-	18	2344	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	SEMA4D_ENST00000455551.2_Missense_Mutation_p.R633H|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R18H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000469653.1_5'UTR	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGACAAAGCGAATGTCTGC	0.597000													19	30					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10024128	10024128	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10024128G>T	ENST00000256190.8	-	7	865	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	243	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACATTAAAGATTCCAGGGC	0.348000													19	31					1.64113e-05	1.85146e-05	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163136557	163136557	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163136557G>A	ENST00000263642.2	-	8	1985	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	530					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTGTATTTGGTTTTTCAGTT	0.328000													24	33					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47882639	47882639	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47882639G>T	ENST00000446256.2	+	8	1094	c.522G>T	c.(520-522)caG>caT	p.Q174H	DHX30_ENST00000445061.1_Missense_Mutation_p.Q213H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q185H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q241H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	213						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGACCCAGCAGGATTCCCACG	0.567000													5	15					1.23904e-05	1.39987e-05	1	1	0
FKBP14	55033	broad.mit.edu	37	7	30058726	30058726	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30058726T>C	ENST00000222803.5	-	3	538	c.363A>G	c.(361-363)ccA>ccG	p.P121P	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	121	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GTGTACTTTCTGGGGGAATTT	0.333000													8	115					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299264	158299264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158299264C>A	ENST00000368168.3	-	4	889	c.782G>T	c.(781-783)tGg>tTg	p.W261L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	261	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCGGAGATACCATGTCCAGTT	0.597000													6	94					0.000157383	0.00017284	1	1	0
ANAPC2	29882	broad.mit.edu	37	9	140082371	140082371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140082371G>T	ENST00000323927.2	-	2	306	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCATCCGCAGAGTTCTCGCA	0.582000													7	46					0.0293803	0.0301098	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60887030	60887030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887030G>A	ENST00000252999.3	-	70	9647	c.9581C>T	c.(9580-9582)gCg>gTg	p.A3194V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3194	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGAAGCCCGCTTGAGTTTT	0.647000													30	47					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187466773	187466773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187466773C>T	ENST00000261023.3	+	2	485	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ITGAV_ENST00000374907.3_Missense_Mutation_p.P71S|ITGAV_ENST00000433736.2_Missense_Mutation_p.P25S	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	71					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGTGGGAGCTCCCAAAGCAAA	0.473000													23	31					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523586	55523586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55523586C>A	ENST00000436346.1	-	30	5740	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1632D|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1605D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1632D|CCDC88A_ENST00000422883.2_Missense_Mutation_p.E134D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1633					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGACCAAGCCTCATGGTCAT	0.478000													8	71					0.00448238	0.00472561	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233353846	233353846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233353846G>T	ENST00000258229.8	-	11	2823	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	PCNXL2_ENST00000430153.1_Silent_p.G162G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	863						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTGCAAAAGCCTTGGCTCA	0.463000													3	7					0.150653	0.152692	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46008666	46008666	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46008666C>T	ENST00000296137.2	-	8	2365	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	FYCO1_ENST00000535325.1_Silent_p.Q720Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	720					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCCAGTTGCTGGCACTGCT	0.607000													13	145					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461726	5461726	+	Missense_Mutation	SNP	C	C	T	rs140677797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461726C>T	ENST00000345221.3	-	4	2844	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.V764M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V764M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V764M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V764M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V764M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	764					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTTCTTCACGTGGCGGCTG	0.512000													8	70					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071586	197071586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197071586G>A	ENST00000367409.4	-	18	7051	c.6795C>T	c.(6793-6795)gcC>gcT	p.A2265A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2265	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAGAGTTGCGGCTATATGCA	0.348000													48	112					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885065	2885065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2885065G>T	ENST00000254528.3	+	3	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502000													19	42					6.33239e-15	8.10486e-15	1	1	0
H3F3A	3020	broad.mit.edu	37	1	226259158	226259158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226259158G>A	ENST00000366813.1	+	3	764	c.389G>A	c.(388-390)cGc>cAc	p.R130H	H3F3A_ENST00000366816.1_Missense_Mutation_p.R130H|H3F3A_ENST00000366815.3_Missense_Mutation_p.R130H					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTAGCACGCCGCATACGTGGA	0.403000			Mis		glioma								8	11					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146739147	146739147	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146739147A>C	ENST00000369258.4	+	9	978	c.958A>C	c.(958-960)Aag>Cag	p.K320Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.K116Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.K320Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.K39Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	320					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCAGCTTCGAAAGTGTGTGGA	0.373000													7	45					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140201478	140201478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140201478C>T	ENST00000529859.1	+	1	118	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H40Y|PCDHA5_ENST00000378126.3_Missense_Mutation_p.H40Y|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCAAACACGGAACCTT	0.672000													10	67					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101885772	101885772	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101885772T>C	ENST00000289382.3	+	7	1593	c.1430T>C	c.(1429-1431)tTc>tCc	p.F477S		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GTGCAGGCATTCTGTATTGAA	0.398000													10	64					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2348503	2348503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2348503C>T	ENST00000301732.5	-	15	2480	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	ABCA3_ENST00000382381.3_Missense_Mutation_p.G536R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	594	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ATTTCATACCCGCTGATGTAT	0.587000													19	37					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294474	29294474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29294474G>T	ENST00000331664.5	-	1	2653	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	885					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGCTCACAGAGGCCCTCAG	0.662000													7	51					2.0095e-06	2.31757e-06	1	1	0
ORAI2	80228	broad.mit.edu	37	7	102087139	102087139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102087139C>T	ENST00000356387.2	+	4	640	c.405C>T	c.(403-405)agC>agT	p.S135S	ORAI2_ENST00000478730.1_Silent_p.S135S|ORAI2_ENST00000473939.1_Silent_p.S135S|ORAI2_ENST00000403646.3_Silent_p.S135S|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	135						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACTCCATCAGCGAGTCCCCGC	0.627000													92	52					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483336	28483336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28483336A>G	ENST00000261609.7	-	25	3884	c.3776T>C	c.(3775-3777)gTa>gCa	p.V1259A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1259	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAAAGCTACCACTGGGTC	0.463000													23	35					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26109097	26109097	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26109097A>G	ENST00000374332.4	+	11	2002	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	MAN1C1_ENST00000263979.3_Missense_Mutation_p.T378A|MAN1C1_ENST00000374329.1_Missense_Mutation_p.T329A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	558					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATACTGTCGGACAGAAGCCGG	0.542000													14	20					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15596323	15596323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15596323C>T	ENST00000427411.1	-	10	1402	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	ACE2_ENST00000252519.3_Missense_Mutation_p.A396T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	396					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCTTCATTAGCTCCATTTCTT	0.433000													26	46					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258623	73258623	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73258623T>G	ENST00000579761.1	+	2	356	c.129T>G	c.(127-129)gaT>gaG	p.D43E	MRPS7_ENST00000245539.6_Missense_Mutation_p.D43E|MRPS7_ENST00000579002.1_Missense_Mutation_p.D72E			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	43					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AATTCAAGGATCCCTTGATTG	0.512000													72	140					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570688	71570688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71570688G>A	ENST00000338482.5	+	3	451	c.108G>A	c.(106-108)atG>atA	p.M36I	CHST4_ENST00000572450.1_Missense_Mutation_p.M36I|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.M36I|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	36					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCCTGTCTATGAAGGCACAGC	0.517000													17	72					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993556	52993556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993556C>T	ENST00000259803.7	-	6	970	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	253						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGTGGAAGTCTGGTCAGTCA	0.473000													25	32					0	0	1	0	0
BIVM	54841	broad.mit.edu	37	13	103491950	103491950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103491950C>T	ENST00000257336.1	+	11	1926	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.A194V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S387S	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCATAGCATTCCAGAGA	0.393000													11	85					0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82359586	82359586	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82359586G>T	ENST00000256103.2	-	1	172	c.36C>A	c.(34-36)gtC>gtA	p.V12V	PMP2_ENST00000519260.1_Silent_p.V12V|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	12						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTCACTAGAGACAAGTTTCC	0.408000													25	84					1.32181e-22	1.74568e-22	1	1	0
TIFAB	497189	broad.mit.edu	37	5	134785473	134785473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134785473G>A	ENST00000537858.1	-	2	357	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	53	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGGGAGAGGCGAGGGAGC	0.657000													30	23					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739067	40739067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40739067C>T	ENST00000373198.3	-	24	3461	c.3226G>A	c.(3226-3228)Ggc>Agc	p.G1076S	PTPRT_ENST00000373184.1_Missense_Mutation_p.G1064S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1054S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1053S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1057S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1063S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1044S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1054	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGAACGCCGTGGTCAGGC	0.612000													3	56					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97078130	97078130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97078130C>T	ENST00000371247.2	-	32	3947	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	SORBS1_ENST00000371249.2_Missense_Mutation_p.R777H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R965H|SORBS1_ENST00000371239.1_Missense_Mutation_p.R772H|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1255H|SORBS1_ENST00000371245.3_Missense_Mutation_p.R866H|SORBS1_ENST00000347291.4_Missense_Mutation_p.R807H|SORBS1_ENST00000306402.6_Missense_Mutation_p.R742H|SORBS1_ENST00000361941.3_Missense_Mutation_p.R1253H|SORBS1_ENST00000371241.1_Missense_Mutation_p.R645H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R1227H|SORBS1_ENST00000277982.5_Missense_Mutation_p.R1112H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R866H|SORBS1_ENST00000393949.1_Missense_Mutation_p.R965H|SORBS1_ENST00000371246.2_Missense_Mutation_p.R1112H			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1253	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTCCATCGCGGAGTTCCAA	0.353000													23	61					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831742	831742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:831742C>T	ENST00000233997.2	+	5	642	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	207	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGTCTGCGAGGGCCTGG	0.706000													9	5					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820649	26820649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820649C>T	ENST00000444914.3	+	7	1506	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	SLC13A2_ENST00000314669.5_Silent_p.C313C|SLC13A2_ENST00000545060.1_Silent_p.C270C|SLC13A2_ENST00000537681.1_Silent_p.C242C	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	313						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCCTACTGCGTCATCCAGA	0.607000													12	26					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16042399	16042399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16042399C>A	ENST00000268712.3	-	12	1532	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	NCOR1_ENST00000395851.1_Missense_Mutation_p.E425D|NCOR1_ENST00000395848.1_Missense_Mutation_p.E316D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	425					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATAGGGTCCTCCATAAGCC	0.353000													6	29					0.217242	0.218821	1	1	0
BAI1	575	broad.mit.edu	37	8	143623496	143623496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143623496G>A	ENST00000517894.1	+	28	4795	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1301N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1301					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTGCCCGACTTCCCCAA	0.647000													16	18					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324157	161324157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324157C>A	ENST00000428797.2	+	11	1455	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	GABRA1_ENST00000420560.1_Missense_Mutation_p.T367N|GABRA1_ENST00000023897.6_Missense_Mutation_p.T367N|GABRA1_ENST00000444819.1_Missense_Mutation_p.T367N|GABRA1_ENST00000393943.4_Missense_Mutation_p.T367N|GABRA1_ENST00000437025.2_Missense_Mutation_p.T367N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAAAACAACACTTACGCTCCA	0.418000													6	94					0.00198382	0.00210581	1	1	0
HTRA4	203100	broad.mit.edu	37	8	38832617	38832617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38832617G>A	ENST00000302495.4	+	2	634	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577000													50	94					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109351454	109351454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109351454G>A	ENST00000370008.3	+	19	1784	c.1734G>A	c.(1732-1734)atG>atA	p.M578I		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	578					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATAAAGATGCTGAATAAAC	0.323000													78	216					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887652	25887652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25887652G>T	ENST00000376351.3	+	11	3456	c.3097G>T	c.(3097-3099)Gct>Tct	p.A1033S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1033						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCTATTGTGGCTTCTGAAAT	0.458000													6	87					2.7689e-08	3.31013e-08	1	1	0
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113666508C>T	ENST00000361127.4	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	995						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418000													19	14					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120830555	120830555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120830555C>T	ENST00000369144.3	-	5	711	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R161H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	195					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACACAGTTTACGGAATTCAGC	0.378000													33	45					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734613	12734613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734613C>A	ENST00000380682.1	+	15	2541	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	679					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGATGAGGGTCCTGAAATGCT	0.493000													7	249					0.0293803	0.0301098	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42049277	42049277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42049277C>T	ENST00000372584.1	-	3	2206	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HIVEP3_ENST00000372583.1_Missense_Mutation_p.E398K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E398K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E398K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	398	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGCACTCTCGGAGCGAGAG	0.577000													24	41					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24664190	24664190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24664190G>T	ENST00000361548.4	+	6	981	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	GRHL3_ENST00000236255.4_Missense_Mutation_p.A256S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A205S|GRHL3_ENST00000350501.5_Missense_Mutation_p.A251S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A158S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	251					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCACCCATGGCCTACCTCAA	0.597000													3	25					0.004672	0.0049138	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46345528	46345528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46345528G>A	ENST00000245934.7	-	9	1311	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	356					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTTGAGTGTGGAGTCCGA	0.572000													24	46					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119449127	119449127	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119449127G>A	ENST00000273390.5	+	8	998	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		AAGAGAATCAGAATGAAGTGA	0.418000													63	101					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985307	60985307	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60985307G>T	ENST00000444484.1	-	2	1085	c.593C>A	c.(592-594)gCa>gAa	p.A198E	BCL2_ENST00000589955.1_Missense_Mutation_p.A198E|BCL2_ENST00000398117.1_Intron|BCL2_ENST00000333681.4_Intron	NM_000657.2	NP_000648.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	0					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATCACCAAGTGCACCTACCCA	0.632000			T	IGH@	"""NHL, CLL"""								6	12					0.00198382	0.00210581	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109689801	109689801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689801G>T	ENST00000277225.5	+	3	3897	c.3608G>T	c.(3607-3609)cGg>cTg	p.R1203L	ZNF462_ENST00000441147.2_Missense_Mutation_p.R48L|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGGGAACCGGACGGTCAAA	0.532000													145	218					2.58994e-81	3.50777e-81	1	1	0
NEK8	284086	broad.mit.edu	37	17	27061884	27061884	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061884G>A	ENST00000268766.6	+	3	382	c.348G>A	c.(346-348)ctG>ctA	p.L116L	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	116	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCTTGCACTGCATCATGTGC	0.552000													44	78					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151731	3151731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3151731C>T	ENST00000400569.3	-	12	2137	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	MYOM1_ENST00000356443.4_Missense_Mutation_p.V602M|MYOM1_ENST00000261606.7_Missense_Mutation_p.V602M			P52179	MYOM1_HUMAN	myomesin 1	602	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCAGCCACGGGCTCGGAA	0.433000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	79					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7817086	7817086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7817086G>A	ENST00000338316.4	+	23	3080	c.2991G>A	c.(2989-2991)ttG>ttA	p.L997L	ADCY2_ENST00000537121.1_Silent_p.L817L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	997					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTCAAATTGCGAGTGGGTA	0.478000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	27					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5032937	5032937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5032937C>A	ENST00000159111.4	+	3	254	c.36C>A	c.(34-36)agC>agA	p.S12R	KDM4B_ENST00000536461.1_Missense_Mutation_p.S12R|KDM4B_ENST00000381759.4_Missense_Mutation_p.S12R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	12					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAACCCCAGCTGTAAAATCA	0.592000													10	134					9.70103e-10	1.18443e-09	1	1	0
RDX	5962	broad.mit.edu	37	11	110128576	110128576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110128576T>C	ENST00000343115.4	-	7	933	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	RDX_ENST00000405097.1_Missense_Mutation_p.Y205C|RDX_ENST00000528498.1_Missense_Mutation_p.Y205C|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.Y69C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	205	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TATTTCAAAATAGTTGACTCC	0.313000													5	80					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201018173	201018173	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201018173A>T	ENST00000362061.3	-	35	4522	c.4296T>A	c.(4294-4296)ccT>ccA	p.P1432P	CACNA1S_ENST00000367338.3_Silent_p.P1413P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1432					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.P1432P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597000													8	12					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158716267	158716267	+	Silent	SNP	G	G	A	rs141953924	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158716267G>A	ENST00000407559.3	+	17	2258	c.2100G>A	c.(2098-2100)acG>acA	p.T700T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	700										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGGTCACGTGTTGCTGCT	0.463000													22	69					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38024841	38024841	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38024841T>C	ENST00000348931.4	+	2	283	c.92T>C	c.(91-93)tTc>tCc	p.F31S	ZPBP2_ENST00000377940.3_Intron|ZPBP2_ENST00000584588.1_Missense_Mutation_p.F31S	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	31					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGAAGGGCTTCATTTATGGC	0.522000													8	120					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44113534	44113534	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113534T>C	ENST00000242248.5	-	9	1263	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	POLM_ENST00000395831.3_Missense_Mutation_p.S308G|POLM_ENST00000335195.6_Missense_Mutation_p.S351G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	388					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ATGCAGAAACTTCTCTCAAAA	0.612000								DNA polymerases (catalytic subunits)					24	59					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58380261	58380261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58380261G>A	ENST00000316059.6	+	8	1106	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R312H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	312					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGTATGTCCGTTGTGAGATG	0.403000													10	117					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1612_splice	c.e17-1	p.A538_splice	RYR2_ENST00000542537.1_Splice_Site_p.A522_splice|RYR2_ENST00000360064.6_Splice_Site_p.A536_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378000													13	33					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4005701	4005701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4005701G>T	ENST00000381638.2	-	9	1706	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	528							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCAACTGGAGAGGTTTACCT	0.448000													32	40					1.22384e-17	1.58917e-17	1	1	0
PCDHGA9	0	broad.mit.edu	37	5	140783914	140783914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140783914C>T	ENST00000573521.1	+	1	1395	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAACAACGCCAGAGGTA	0.463000													28	34					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124011759	124011759	+	Missense_Mutation	SNP	G	G	A	rs138229076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124011759G>A	ENST00000274008.3	+	14	2308	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	747					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAATGTAGCCGATCGTGTTTT	0.353000													40	55					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237044082	237044082	+	Silent	SNP	G	G	A	rs141919148	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237044082G>A	ENST00000366577.5	+	25	3016	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	MTR_ENST00000535889.1_Silent_p.P823P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	874	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATAGCTCCGAGATACAGTG	0.443000													24	29					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70960148	70960148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70960148G>T	ENST00000359655.4	+	11	1471	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	471	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGGCAGAGCTGGCAGATT	0.408000													28	64					3.11337e-16	4.01248e-16	1	1	0
CTDSPL	10217	broad.mit.edu	37	3	38022346	38022346	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38022346C>A	ENST00000443503.2	+	7	1026	c.786C>A	c.(784-786)ctC>ctA	p.L262L	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.L273L	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	273						nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGCACAGACTCTGCAATAGGT	0.622000													10	25					0.000673444	0.000724755	1	1	0
CNDP1	84735	broad.mit.edu	37	18	72247449	72247449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72247449G>A	ENST00000582365.1	+	9	1188	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	CNDP1_ENST00000358821.3_Silent_p.P417P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GACTACACCCGTGGATTGCAA	0.438000													11	24					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636613	42636613	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42636613G>A	ENST00000315323.3	+	1	1689	c.1557G>A	c.(1555-1557)acG>acA	p.T519T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	519					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGACTTCACGGTCTACATGA	0.622000													5	11					0	0	1	0	0
MT1JP	0	broad.mit.edu	37	16	56670364	56670364	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56670364G>A	ENST00000564564.1	+	0	690																											GCTCCTGCACGTGCGCCGGCT	0.572000													5	47					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345333	224345333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224345333C>A	ENST00000366862.5	+	5	1035	c.992C>A	c.(991-993)gCt>gAt	p.A331D	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	331										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ATGGAAAGTGCTGTAGGAAAT	0.483000													20	103					2.89027e-11	3.59474e-11	1	1	0
FMN1	342184	broad.mit.edu	37	15	33200738	33200738	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33200738G>A	ENST00000334528.9	-	8	2660	c.2661C>T	c.(2659-2661)taC>taT	p.Y887Y	FMN1_ENST00000559047.1_Silent_p.Y1110Y|FMN1_ENST00000561249.1_Silent_p.Y1012Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1110	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGATGTCTCGTAATACTTTC	0.353000													4	51					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89909125	89909125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89909125G>T	ENST00000389297.4	+	12	1541	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	C7orf63_ENST00000497910.1_Silent_p.V412V|C7orf63_ENST00000316089.8_Silent_p.V430V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	430							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTCATCAGTGGCTCCTTTAT	0.418000											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	140					0.000442599	0.00048047	1	1	0
TMEM150C	441027	broad.mit.edu	37	4	83406871	83406871	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83406871G>A	ENST00000449862.2	-	8	861	c.541_splice	c.e8-1	p.Y181_splice	TMEM150C_ENST00000515780.1_Splice_Site_p.Y181_splice	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	181						integral to membrane				ovary(1)	1						TGAGGATGAAGTCTGGGGAGA	0.493000													6	13					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491697	73491697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73491697C>T	ENST00000314256.7	+	22	3311	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	KIAA0195_ENST00000579208.1_Missense_Mutation_p.P624S|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P983S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	973					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTAGTGCCCCTTTTCAC	0.637000													78	128					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139434	3139434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3139434G>A	ENST00000252463.2	-	5	1923	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	ZSCAN10_ENST00000575108.1_Silent_p.C273C|ZSCAN10_ENST00000538082.2_Silent_p.C530C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	612					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AACGGTGGCCGCAGGTGTCGC	0.711000													17	17					0	0	1	0	0
P2RY12	0	broad.mit.edu	37	3	151056190	151056190	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151056190G>T	ENST00000302632.3	-	3	743	c.444C>A	c.(442-444)atC>atA	p.I148I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	148					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGAATGCCCAGATGACAACAG	0.438000													4	92					0.150653	0.152692	1	1	0
DCST2	127579	broad.mit.edu	37	1	154997063	154997063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154997063G>T	ENST00000368424.3	-	11	1685	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	543						integral to membrane		p.L543M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACATTGTACAGGTAGGAGATC	0.592000													4	31					0.184627	0.186383	1	1	0
DDX39A	10212	broad.mit.edu	37	19	14521801	14521801	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14521801C>A	ENST00000242776.4	-	5	714	c.613_splice	c.e5+1	p.D205_splice	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Splice_Site_p.D205_splice	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	205	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GAGGACTCACCCAGCTGCTCC	0.617000													10	17					0.335167	0.336617	1	1	0
CPED1	79974	broad.mit.edu	37	7	120739988	120739988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:120739988C>T	ENST00000310396.5	+	7	1225	c.758C>T	c.(757-759)aCg>aTg	p.T253M	CPED1_ENST00000450913.2_Missense_Mutation_p.T253M|CPED1_ENST00000423795.1_Missense_Mutation_p.T33M	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGGAATGAAACGACAGTCCTT	0.378000													14	64					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4494922	4494922	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:4494922C>A	ENST00000520002.1	-	2	799	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	CSMD1_ENST00000542608.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D82Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D82Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	82	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATCAAAATCTTCTTCAAGA	0.408000													4	100					0.00909568	0.00947522	1	1	0
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773651G>T	ENST00000394253.3	-	3	1400	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	USP49_ENST00000373006.1_Silent_p.L357L|USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373010.1_Silent_p.L357L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602000													10	23					1.58986e-06	1.84011e-06	1	1	0
MED1	5469	broad.mit.edu	37	17	37587409	37587409	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37587409A>C	ENST00000300651.6	-	9	831	c.608T>G	c.(607-609)aTt>aGt	p.I203S	MED1_ENST00000394287.3_Missense_Mutation_p.I203S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	203	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCATGAAGAATCTTATCCAA	0.393000										HNSCC(31;0.082)			5	110					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326667	158326667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158326667G>A	ENST00000444681.2	+	5	1144	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CD1E_ENST00000368154.1_Missense_Mutation_p.R139H|CD1E_ENST00000452291.2_Missense_Mutation_p.R194H|CD1E_ENST00000368166.3_Missense_Mutation_p.R182H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R316H|CD1E_ENST00000368157.1_Missense_Mutation_p.R127H|CD1E_ENST00000368156.1_Missense_Mutation_p.R281H|CD1E_ENST00000368167.3_Missense_Mutation_p.R383H|CD1E_ENST00000368155.3_Missense_Mutation_p.R226H|CD1E_ENST00000368165.3_Missense_Mutation_p.R293H|CD1E_ENST00000368160.3_Missense_Mutation_p.R371H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	383	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGACACGCCTAAACCAA	0.423000													24	63					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942139	75942139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942139C>A	ENST00000308527.5	+	1	1893	c.696C>A	c.(694-696)tgC>tgA	p.C232*		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	232	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATTTGCCTGCTCTGTGGAGG	0.562000													5	99					0.00116845	0.00124821	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14034193	14034193	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14034193G>A	ENST00000318003.7	+	15	1930	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	CC2D1A_ENST00000589606.1_Silent_p.R563R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	563					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCCAGCGGCCTGGCCCGG	0.682000													27	43					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211027	80211027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80211027G>T	ENST00000314028.6	-	4	779	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	CSNK1D_ENST00000398519.5_Missense_Mutation_p.L144M|CSNK1D_ENST00000392334.2_Missense_Mutation_p.L144M|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	144	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATGTACACCAGGTTGCCCTTC	0.547000													56	80					6.20203e-27	8.2679e-27	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46773018	46773018	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46773018G>T	ENST00000529230.1	-	39	5246	c.5200C>A	c.(5200-5202)Ctg>Atg	p.L1734M	CKAP5_ENST00000354558.3_Missense_Mutation_p.L1674M|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1734M|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1674M			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1734					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGATATCCAGAAGAATTCTG	0.398000													62	102					2.50483e-33	3.36404e-33	1	1	0
HOOK1	51361	broad.mit.edu	37	1	60324163	60324163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60324163C>T	ENST00000371208.3	+	13	1563	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q394*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	436	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCACAAGTACAACAGGACCA	0.343000													22	32					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682000													24	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453593	179453593	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179453593T>C	ENST00000589042.1	-	304	63083	c.62859A>G	c.(62857-62859)aaA>aaG	p.K20953K	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.K11888K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.K18385K|TTN_ENST00000359218.5_Silent_p.K12013K|TTN_ENST00000342175.6_Silent_p.K12080K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.K19312K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19312	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGACTGGTTTACTTTCTG	0.428000													14	42					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17079821	17079821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17079821C>A	ENST00000395811.5	+	20	2880	c.2791C>A	c.(2791-2793)Ctg>Atg	p.L931M	MPRIP_ENST00000395804.3_Missense_Mutation_p.L931M|MPRIP_ENST00000341712.4_Missense_Mutation_p.L931M|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L893M	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	931						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAGACGGCACTGCGGGTAAG	0.562000													6	57					0.0215528	0.0221649	1	1	0
DHX30	22907	broad.mit.edu	37	3	47889410	47889410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47889410G>A	ENST00000446256.2	+	15	2705	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	DHX30_ENST00000445061.1_Silent_p.G750G|DHX30_ENST00000348968.4_Silent_p.G722G|DHX30_ENST00000457607.1_Silent_p.G778G	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	750	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGACAGTGGGCTGCACAAGG	0.577000													4	62					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95185933	95185933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95185933G>A	ENST00000354268.4	+	10	1430	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D23N|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D453N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	453					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCAAGAAAGAGATGTAGTTAT	0.323000													32	38					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46211663	46211663	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46211663T>C	ENST00000334344.6	+	5	801	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ARID2_ENST00000422737.1_Missense_Mutation_p.F61S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	210					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCGGGGTGTTTGACGACAGT	0.318000			"""N, S, F"""		hepatocellular carcinoma								7	32					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126333072G>A	ENST00000525144.2	-	6	971	c.722C>T	c.(721-723)tCg>tTg	p.S241L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S241L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S241L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	241	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617000													5	53					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241757990	241757990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241757990G>A	ENST00000366554.2	-	4	1055	c.949C>T	c.(949-951)Cga>Tga	p.R317*	KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Nonsense_Mutation_p.R238*	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	317					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGGATCTTCGAAACTGGGCA	0.438000													4	63					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954809	72954809	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72954809A>G	ENST00000425042.2	-	10	1276	c.1199T>C	c.(1198-1200)gTc>gCc	p.V400A		NM_030630.2	NP_085133.1			HID1 domain containing																		GAGGATGGGGACAAGGATGTC	0.622000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851262	63851262	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63851262T>C	ENST00000279873.7	+	10	2450	c.2040T>C	c.(2038-2040)tcT>tcC	p.S680S	ARID5B_ENST00000309334.5_Silent_p.S437S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	680					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCTCTACTCTAGGGGCAACC	0.542000													15	17					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45700410	45700410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45700410G>A	ENST00000310806.4	-	8	1986	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	510				R -> Q (in Ref. 1; BAB67796).	cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGGTTTTCTCGTGCATCATTT	0.373000													22	38					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031210	21031210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031210C>T	ENST00000247986.2	-	5	1163	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	KIF17_ENST00000375044.1_Missense_Mutation_p.V185I|KIF17_ENST00000400463.3_Missense_Mutation_p.V285I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	285					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.V285I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGTAGGGGACGTGCTTACAG	0.652000													21	27					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142409507	142409507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142409507C>T	ENST00000258042.1	-	1	429	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCACCGGGACGCAGGTGAGC	0.592000													7	18					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207451	19207451	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19207451C>T	ENST00000263200.10	-	18	2934	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	CLTCL1_ENST00000353891.5_Silent_p.E954E|CLTCL1_ENST00000427926.1_Silent_p.E954E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	954	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCCCAGAGCTCCGGATCCT	0.527000			T	?	ALCL								39	70					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242365	118242365	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118242365A>G	ENST00000402510.2	-	6	846	c.847T>C	c.(847-849)Tca>Cca	p.S283P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	283										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGCTCCTGACATGGCTCCA	0.483000													56	70					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185277969	185277969	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185277969G>T	ENST00000392007.3	-	0	550				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.S107Y|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.S107Y			Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTGCTGCAGAATAAACATC	0.294000													5	120					0.000602214	0.000649039	1	1	0
TM4SF19	116211	broad.mit.edu	37	3	196051280	196051280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196051280G>A	ENST00000446879.1	-	4	436	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TM4SF19_ENST00000454715.1_Missense_Mutation_p.A78V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A104V|TM4SF19-AS1_ENST00000452051.1_RNA			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	104						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCAAGTAAAGCCAGGCCACC	0.517000													16	25					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56398397	56398397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56398397C>A	ENST00000394109.3	+	3	1948	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D408E|SUOX_ENST00000394115.2_Missense_Mutation_p.D408E|SUOX_ENST00000266971.3_Missense_Mutation_p.D408E|SUOX_ENST00000548274.1_Missense_Mutation_p.D408E			P51687	SUOX_HUMAN	sulfite oxidase	408	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CATCTGTGGACTGGGAGACTG	0.552000													6	47					0.0293803	0.0301098	1	1	0
GAPDHS	26330	broad.mit.edu	37	19	36034625	36034625	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36034625A>G	ENST00000222286.4	+	9	1068	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	318					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGTGGACCTGACCTGCCGCCT	0.612000													11	45					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303741	171303741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171303741C>A	ENST00000367749.3	+	8	1349	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	340					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTGAAGAACCTCTTAAAAGC	0.388000													6	97					0.000157383	0.00017284	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6993675	6993675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6993675G>A	ENST00000389658.3	-	35	5066	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1658	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGGCTATGGCCAGGTCTTG	0.453000													35	68					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14399169	14399169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14399169G>A	ENST00000344204.4	+	30	4628	c.4604G>A	c.(4603-4605)aGc>aAc	p.S1535N	TRIO_ENST00000509967.2_Missense_Mutation_p.S1486N|TRIO_ENST00000537187.1_Missense_Mutation_p.S1535N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTT	0.358000													7	88					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313466	18313466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18313466C>T	ENST00000222256.4	-	2	263	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	29					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCTGTTGCCGATGATGAGA	0.567000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	103					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:22115094C>T	ENST00000379374.4	+	8	1436	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Nonsense_Mutation_p.R291*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.R194*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	291					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACATGAAAACCGAACCAGCGA	0.358000													19	45					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88414583	88414583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88414583C>T	ENST00000372071.2	+	1	270	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	OPN4_ENST00000241891.5_Nonsense_Mutation_p.Q15*	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	15					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAGCCCAACCCAAGAGCCCAG	0.647000													23	33					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458120	3458120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3458120C>T	ENST00000301365.4	-	2	156	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TRPV3_ENST00000572519.1_Missense_Mutation_p.V9M|TRPV3_ENST00000576742.1_Missense_Mutation_p.V9M			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	9						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGAGAGGCACCATCTCCTTG	0.622000													12	27					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065179	119065179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119065179G>A	ENST00000328252.3	+	10	3466	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D71N|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1033					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCTCATCAAGACCAGCAATG	0.507000													24	37					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89763869	89763869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89763869G>A	ENST00000289805.5	-	3	1216	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	383										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGCAGGGCTGCACAGTGGGC	0.697000													14	16					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6557047	6557047	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6557047G>A	ENST00000263125.5	-	2	150	c.51C>T	c.(49-51)tgC>tgT	p.C17C	PRKCQ_ENST00000397176.2_Silent_p.C17C|PRKCQ_ENST00000539722.1_5'UTR	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	17	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACAAGACTGGCAGGACCCGC	0.512000													8	33					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714050	6714050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714050G>T	ENST00000245907.6	-	7	818	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	242					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATGTAGTAGAATTTCTCTG	0.612000													22	58					1.55469e-16	2.00715e-16	1	1	0
MIR519D	0	broad.mit.edu	37	19	54216613	54216613	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54216613A>G	ENST00000385246.1	+	0	13					NR_030202.1																						CCATGCTGTGACCCTCCAAAG	0.433000													32	55					0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52293442	52293442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52293442G>A	ENST00000298125.5	+	5	623	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	148							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGTGGGCAGCGCCTGGGAGGT	0.527000													19	44					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318396	129318396	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129318396C>A	ENST00000257017.4	+	2	810	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAATGTGGATCCAAGAATGCA	0.507000													6	65					0.00198382	0.00210581	1	1	0
OR7E24	26648	broad.mit.edu	37	19	9362594	9362594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9362594C>A	ENST00000456448.1	+	1	989	c.875C>A	c.(874-876)gCt>gAt	p.A292D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTATGGTGGCTTCAGTGATG	0.517000													22	18					2.39556e-15	3.07139e-15	1	1	0
DMRT3	58524	broad.mit.edu	37	9	990083	990083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:990083A>G	ENST00000190165.2	+	2	535	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	166					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCGGCAGACAATACAGAGGTC	0.493000													21	35					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681620	233681620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681620C>T	ENST00000373566.3	+	21	2511	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	GIGYF2_ENST00000409451.3_Missense_Mutation_p.R771W|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R744W|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R772W|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R750W|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R750W|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R581W			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	750	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGGCAAAACGGGAAGAGGA	0.478000													20	49					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737353	24737353	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24737353G>T	ENST00000560777.1	-	0	555				RABGGTA_ENST00000399409.3_Silent_p.S370S|RABGGTA_ENST00000216840.6_Silent_p.S370S			Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCCTTACAGGATTCCAGCT	0.592000													9	48					1.76689e-08	2.11513e-08	1	1	0
MUC2	4583	broad.mit.edu	37	11	1077647	1077647	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1077647G>T	ENST00000441003.2	+	3	424	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	MUC2_ENST00000359061.5_Missense_Mutation_p.A133S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	133	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAAGAGCGATGCCTACACCAA	0.672000													7	3					5.18039e-06	5.91835e-06	1	1	0
ZC3H10	84872	broad.mit.edu	37	12	56515435	56515435	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56515435G>A	ENST00000257940.2	+	3	1365	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	363	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGATCACGCCACTGTCAG	0.627000													11	20					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398885	52398885	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398885G>A	ENST00000420323.2	+	34	5629	c.5368G>A	c.(5368-5370)Gtg>Atg	p.V1790M		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1790					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATGTGAACGTGCCCAAGTT	0.632000													12	27					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140176534	140176534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140176534C>T	ENST00000526136.1	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T662M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T662M	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAGCCACGGCCACCGTG	0.662000													4	74					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979635	240979635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240979635T>A	ENST00000366565.1	-	11	1146	c.765A>T	c.(763-765)gaA>gaT	p.E255D	RGS7_ENST00000407727.1_Missense_Mutation_p.E255D|RGS7_ENST00000446183.2_Missense_Mutation_p.E171D|RGS7_ENST00000366562.4_Missense_Mutation_p.E255D|RGS7_ENST00000348120.2_Missense_Mutation_p.E202D|RGS7_ENST00000331110.7_Missense_Mutation_p.E229D|RGS7_ENST00000366563.1_Missense_Mutation_p.E255D|RGS7_ENST00000401882.1_Missense_Mutation_p.E202D|RGS7_ENST00000366564.1_Missense_Mutation_p.E255D	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAACTCATCTTCTGTTGGAG	0.363000													64	109					0	0	1	0	0
CFD	1675	broad.mit.edu	37	19	860969	860969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:860969G>T	ENST00000327726.6	+	3	558	c.321G>T	c.(319-321)caG>caT	p.Q107H	CFD_ENST00000592860.1_Missense_Mutation_p.Q114H	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	107	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACAGCCAGCCCGACACCA	0.711000													6	15					5.18039e-06	5.91835e-06	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72338541	72338541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338541A>G	ENST00000340595.3	+	11	1821	c.1625A>G	c.(1624-1626)gAg>gGg	p.E542G	SLC4A4_ENST00000425175.1_Missense_Mutation_p.E586G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E586G|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E542G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.E586G|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	586						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCACGGAGGAGGGCTTTTCC	0.448000													52	97					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108719214	108719214	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108719214G>T	ENST00000361189.2	-	0	160				PJA2_ENST00000361557.3_De_novo_Start_OutOfFrame|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		acaagccgcagaagattccta	0.338000													5	62					3.59834e-05	4.01776e-05	1	1	0
CES4A	283848	broad.mit.edu	37	16	67029675	67029675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67029675C>A	ENST00000540947.2	+	2	387	c.203C>A	c.(202-204)cCt>cAt	p.P68H	CES4A_ENST00000541479.1_Missense_Mutation_p.P91H|CES4A_ENST00000338718.4_Missense_Mutation_p.P91H|CES4A_ENST00000326686.5_Missense_Mutation_p.P68H|CES4A_ENST00000398354.1_Missense_Mutation_p.P68H	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	68						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGGTTTGCACCTCCAGAACCC	0.567000													26	72					2.48779e-11	3.09936e-11	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184368	130184368	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130184368G>A	ENST00000422113.2	-	2	1281	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	319						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACGTGAAGCGATCTTCAGTG	0.483000													14	24					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64936301	64936301	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64936301T>C	ENST00000320636.5	+	1	2477	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	AKAP5_ENST00000394718.3_Missense_Mutation_p.S397P|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	397	PKA-RII subunit binding domain.				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TGAAACAGCCTCTTCTCTAGT	0.338000													11	153					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.T102T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592000													14	28					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398868	52398868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398868C>T	ENST00000420323.2	+	34	5612	c.5351C>T	c.(5350-5352)gCc>gTc	p.A1784V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1784					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCTCCGGGCCATCCGTGAT	0.632000													11	24					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724231	67724231	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724231T>A	ENST00000347310.5	+	11	1481	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K	IL23R_ENST00000395227.1_Missense_Mutation_p.I182K|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	437					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTACAGAGATAAAAGAAATC	0.388000													5	136					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90006903	90006903	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90006903A>G	ENST00000222511.6	+	7	740	c.674A>G	c.(673-675)gAa>gGa	p.E225G	GTPBP10_ENST00000257659.8_Missense_Mutation_p.E146G	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	225					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAGCATATAGAAAGAACTAGA	0.299000													4	133					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964527	166964527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964527G>T	ENST00000061240.2	+	12	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	494	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAAATAACAGTGTCTGAGAG	0.433000													10	133					9.70103e-10	1.18443e-09	1	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401795	136401795	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136401795C>T	ENST00000393061.3	+	2	720	c.288C>T	c.(286-288)atC>atT	p.I96I	ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	503	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGAAGAGGATCGGAGCTGGCC	0.592000													22	42					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212433	81212433	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81212433A>G	ENST00000394685.3	+	15	2216		c.e15-1		RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Splice_Site|KIAA1199_ENST00000356249.5_Splice_Site			Q8WUJ3	K1199_HUMAN	KIAA1199											breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCCCTGCAGATCAAGGAC	0.483000													14	28					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6259132	6259132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6259132C>T	ENST00000379775.4	+	6	806	c.476C>T	c.(475-477)aCa>aTa	p.T159I	PFKFB3_ENST00000317350.4_Missense_Mutation_p.T159I|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T159I|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T159I|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T139I|PFKFB3_ENST00000540253.1_Missense_Mutation_p.T173I|PFKFB3_ENST00000379782.3_Missense_Mutation_p.T159I|PFKFB3_ENST00000536985.1_Missense_Mutation_p.T139I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	159	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACGACCCTACAGTTGTGGCC	0.557000													29	44					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115151396	115151396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115151396G>T	ENST00000393274.1	-	10	2093	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	DENND2C_ENST00000393276.3_Missense_Mutation_p.L433M|DENND2C_ENST00000393277.1_Missense_Mutation_p.L490M|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	490										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCAAACAGCTGCTGCTCC	0.463000													38	42					9.8876e-21	1.29918e-20	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92261894G>T	ENST00000276609.3	+	2	254	c.15G>T	c.(13-15)aaG>aaT	p.K5N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.K5N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K5N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	5						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413000													5	34					8.12818e-05	8.99451e-05	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49159017	49159017	+	Silent	SNP	G	G	A	rs151292828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49159017G>A	ENST00000418109.1	-	32	5273	c.5109C>T	c.(5107-5109)cgC>cgT	p.R1703R	LAMB2_ENST00000305544.4_Silent_p.R1703R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1703	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGAGGACCGCGTAGCAGCT	0.607000													4	30					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310634	178310634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310634G>T	ENST00000322434.3	+	5	1407	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGCCAGAGTGCCTCTCTT	0.408000													27	37					6.70999e-13	8.46507e-13	1	1	0
GIMAP4	55303	broad.mit.edu	37	7	150270110	150270110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150270110G>A	ENST00000255945.2	+	3	1127	c.952G>A	c.(952-954)Gct>Act	p.A318T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A332T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	318							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTACAGATTGCTTCCTTTAT	0.408000													31	65					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78387401	78387401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78387401G>A	ENST00000278550.7	-	30	5754	c.5292C>T	c.(5290-5292)gcC>gcT	p.A1764A		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGGAGCCATCGGCCCCGATGT	0.627000													6	12					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233422710	233422710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233422710G>T	ENST00000409514.1	+	3	294	c.252G>T	c.(250-252)caG>caT	p.Q84H	EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409495.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000258416.3_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409394.1_Intron			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	84					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATCAAACAGATTGGCACCT	0.463000													4	60					0.00024832	0.0002712	1	1	0
C8B	732	broad.mit.edu	37	1	57425741	57425741	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57425741C>T	ENST00000543257.1	-	3	611	c.45G>A	c.(43-45)ctG>ctA	p.L15L	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.L67L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	67					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAACTAGACAGCTCACAAT	0.517000													8	57					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33468843	33468843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33468843G>T	ENST00000404816.2	+	10	2344	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	LTBP1_ENST00000402934.1_Missense_Mutation_p.S338I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S338I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S664I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S338I|LTBP1_ENST00000407925.1_Missense_Mutation_p.S338I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S338I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	664					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTTTCAAGTTGTGTTCGT	0.408000													7	77					0.00198382	0.00210581	1	1	0
SCFD2	152579	broad.mit.edu	37	4	54011572	54011572	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54011572T>G	ENST00000401642.3	-	5	1622	c.1489A>C	c.(1489-1491)Aaa>Caa	p.K497Q	SCFD2_ENST00000388940.4_Missense_Mutation_p.K497Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	497					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTTGACTTTTTCTTCTGCT	0.443000													44	58					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183660584	183660584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183660584C>T	ENST00000334444.6	-	25	3865	c.3625G>A	c.(3625-3627)Gtc>Atc	p.V1209I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1166I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1209	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTTAGGACGAGAGGGAGG	0.502000													23	39					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47626623	47626623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47626623C>T	ENST00000397728.3	-	16	1605	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	LSS_ENST00000356396.4_Silent_p.G509G|LSS_ENST00000522411.1_Silent_p.G498G|LSS_ENST00000457828.2_Silent_p.G429G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCAGCAAGTGCCCCCCACGCT	0.597000													20	32					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80685007	80685007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80685007G>T	ENST00000269373.6	+	6	963	c.890G>T	c.(889-891)aGa>aTa	p.R297I	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R247I	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	297							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCGGGGTACAGAGGATCCTCC	0.517000													4	99					0.014758	0.0152625	1	1	0
DACT1	51339	broad.mit.edu	37	14	59112882	59112882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112882G>A	ENST00000395153.3	+	4	1577	c.1430G>A	c.(1429-1431)aGc>aAc	p.S477N	DACT1_ENST00000556859.1_Missense_Mutation_p.S233N|DACT1_ENST00000395151.3_Missense_Mutation_p.S233N|DACT1_ENST00000335867.4_Missense_Mutation_p.S514N|DACT1_ENST00000541264.2_Missense_Mutation_p.S233N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	514					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGAAAAACAGCCTGCAGGGC	0.592000													10	124					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149901306	149901306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149901306G>A	ENST00000261797.6	+	2	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	164	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542000													9	120					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259438	32259438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32259438T>C	ENST00000360482.2	-	12	2573	c.2444A>G	c.(2443-2445)aAt>aGt	p.N815S	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.N815S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.N308S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	815					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGAAGATATTGTCCCCGCA	0.572000													75	111					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46740290	46740290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46740290G>A	ENST00000371975.4	+	16	2444	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	RAD54L_ENST00000442598.1_Missense_Mutation_p.M590I|RAD54L_ENST00000488942.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	590	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCTGGTCATGTTTGACCCTG	0.537000								Direct reversal of damage;Homologous recombination					30	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:114327022C>A	ENST00000297405.5	-	2	423	c.178_splice	c.e2-1	p.G60_splice	CSMD3_ENST00000352409.3_Splice_Site_p.G60_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G20_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G60_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	54					1.64293e-13	2.0847e-13	1	1	0
CATSPER2P1	0	broad.mit.edu	37	15	44028445	44028445	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44028445G>T	ENST00000381680.2	-	0	1339					NR_002318.2																						CAGATCCTCAGAAGCTGAAGC	0.493000													35	44					4.14194e-30	5.54707e-30	1	1	0
RP3-402G11.5	0	broad.mit.edu	37	22	50649116	50649116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50649116G>T	ENST00000380903.2	+	5	1185	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					TACGCGTACAGCAAGCAGCCC	0.682000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0.0215528	0.0221649	1	1	0
MUC2	4583	broad.mit.edu	37	11	1082672	1082672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1082672G>A	ENST00000441003.2	+	15	1948	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	MUC2_ENST00000359061.5_Missense_Mutation_p.A641T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	641						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCCTGCACCGCCAAGGGCGT	0.642000													7	17					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78327371	78327371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78327371G>A	ENST00000466548.1	+	6	1252	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	SLAIN1_ENST00000351546.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R32Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R190Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R190Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R267Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	409										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTAGCCCGGATGCCAAGT	0.413000													15	33					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572608	112572608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112572608G>A	ENST00000257604.5	+	3	731	c.114G>A	c.(112-114)atG>atA	p.M38I	TRAFD1_ENST00000412615.2_Missense_Mutation_p.M38I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	38					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ACATTGGTATGTGTCCTACCT	0.408000													10	124					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803050	79803050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79803050G>A	ENST00000331483.4	-	10	1638	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.S428S	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	472	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCTGGCCACCGCTCTCCAGGA	0.607000													8	10					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076630	93076630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076630G>A	ENST00000510627.4	-	1	713	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCTTGCCCGTCTCCACTTC	0.542000													23	40					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57641354	57641354	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641354T>A	ENST00000254181.4	+	4	1765	c.1311T>A	c.(1309-1311)atT>atA	p.I437I	USP29_ENST00000598197.1_Silent_p.I437I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	437					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCTTATTTGTAAAGCTT	0.398000													16	132					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55582700C>A	ENST00000361849.3	-	34	5186	c.4792G>T	c.(4792-4794)Gat>Tat	p.D1598Y	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1596Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGCAGATCTATGATCTCT	0.468000										HNSCC(58;0.16)			6	114					0.0215528	0.0221649	1	1	0
MED13L	23389	broad.mit.edu	37	12	116403926	116403926	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116403926C>T	ENST00000281928.3	-	29	6554	c.6348G>A	c.(6346-6348)tcG>tcA	p.S2116S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGGACACGATGACCAAA	0.453000													50	94					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38763774	38763774	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38763774A>G	ENST00000449082.2	-	19	3481	c.3482T>C	c.(3481-3483)aTg>aCg	p.M1161T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1161					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGGATCATGAAGATGAT	0.547000													5	52					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987396	35987396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35987396T>C	ENST00000490799.1	-	2	442	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	SLC26A8_ENST00000355574.2_Missense_Mutation_p.Y30C|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Y30C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	30					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCTCATTGTATACTTCACG	0.493000													6	20					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073391	74073391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74073391C>T	ENST00000370367.3	+	3	515	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		TCCGGGAGGCCGGGACCCAGC	0.677000													13	19					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316255	19316255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19316255C>T	ENST00000461366.1	+	4	601	c.386C>T	c.(385-387)aCg>aTg	p.T129M	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	129							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCCAGGAGACGTGTCCTGTG	0.617000													3	6					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480853	57480853	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57480853G>T	ENST00000371236.2	-	12	1410	c.1147C>A	c.(1147-1149)Ccc>Acc	p.P383T	DAB1_ENST00000420954.2_Missense_Mutation_p.P381T|DAB1_ENST00000371231.1_Missense_Mutation_p.P416T|DAB1_ENST00000414851.2_Missense_Mutation_p.P365T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P297T|DAB1_ENST00000371234.4_Missense_Mutation_p.P383T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	416					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGTGAGGGGACCTTGGAAC	0.592000													4	60					1	1	1	1	0
AGAP2	116986	broad.mit.edu	37	12	58128172	58128172	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58128172T>G	ENST00000257897.3	-	4	408	c.323A>C	c.(322-324)aAa>aCa	p.K108T	AGAP2_ENST00000547588.1_Missense_Mutation_p.K444T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	444					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAACATTTCTTTCTTGTACTG	0.542000													4	43					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65056008	65056008	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65056008G>A	ENST00000298705.1	+	12	1317	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	407																	AGGATACACTGGACTTGGTCA	0.393000													7	71					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102338621	102338621	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102338621C>A	ENST00000395065.3	-	4	453		c.e4-1		NXF3_ENST00000425463.2_Splice_Site|NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAGGGAACCTATGAGTGAA	0.388000													25	97					3.28513e-13	4.1605e-13	1	1	0
MFGE8	4240	broad.mit.edu	37	15	89442660	89442660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89442660C>T	ENST00000539437.1	-	9	1242	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	MFGE8_ENST00000268151.7_Missense_Mutation_p.R325H|MFGE8_ENST00000542878.1_Missense_Mutation_p.R333H|MFGE8_ENST00000268150.8_Missense_Mutation_p.R377H|MFGE8_ENST00000566497.1_Missense_Mutation_p.R377H			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	377	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGCGATGCGGTTGTGCCA	0.622000													37	59					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032730	110032730	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032730C>T	ENST00000369870.3	+	8	1231	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	406										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTATGCAACCCGGCCCCCACG	0.667000													25	62					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62939551	62939551	+	Silent	SNP	C	C	T	rs144527579	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62939551C>T	ENST00000561311.1	+	3	272	c.42C>T	c.(40-42)aaC>aaT	p.N14N	TLN2_ENST00000306829.6_Silent_p.N14N			Q9Y4G6	TLN2_HUMAN	talin 2	14					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCACTGCAACGTGGTGAAGA	0.493000													48	45					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541382	55541382	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541382T>G	ENST00000220676.1	+	4	5088	c.4940T>G	c.(4939-4941)tTt>tGt	p.F1647C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1647					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATCTTTTTTTCCTGGGTCT	0.373000													5	131					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705659	62705659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705659T>C	ENST00000395042.1	-	5	566	c.300A>G	c.(298-300)ggA>ggG	p.G100G	RGS19_ENST00000332298.5_Silent_p.G100G	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	100	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACGCTGCGTCCCGCTGGGC	0.632000													5	19					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10472565	10472565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10472565C>T	ENST00000525621.1	-	13	2321	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	TYK2_ENST00000529370.1_Missense_Mutation_p.G614R|TYK2_ENST00000264818.6_Missense_Mutation_p.G614R|TYK2_ENST00000524462.1_Missense_Mutation_p.G429R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	614	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGGTCCCCGCTGCCCTCC	0.647000													5	90					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79742556C>A	ENST00000372371.3	-	27	3586	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507000													6	38					0.0215528	0.0221649	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111888171	111888171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111888171C>T	ENST00000305815.5	-	24	3176	c.2924G>A	c.(2923-2925)tGt>tAt	p.C975Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.C927Y	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	975					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GGGAATAAAACATGTCTGGAA	0.308000													22	27					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170973	24170973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24170973G>A	ENST00000265769.4	+	6	566	c.456G>A	c.(454-456)gaG>gaA	p.E152E	ADAM28_ENST00000437154.2_Silent_p.E152E|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	152					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGACAGGAGCATGCACTCT	0.468000													34	49					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129788582	129788582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788582C>A	ENST00000358825.5	-	15	2309	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PRDM10_ENST00000304538.6_Missense_Mutation_p.R603M|PRDM10_ENST00000360871.3_Missense_Mutation_p.R689M|PRDM10_ENST00000526082.1_Missense_Mutation_p.R607M|PRDM10_ENST00000423662.2_Missense_Mutation_p.R607M|PRDM10_ENST00000528746.1_Missense_Mutation_p.R663M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATTATGCATCCTCTGCATGTG	0.493000													18	268					1.10513e-12	1.39297e-12	1	1	0
RP11-407N17.3	0	broad.mit.edu	37	14	39790251	39790251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39790251G>T	ENST00000553728.1	+	23	3481	c.3268G>T	c.(3268-3270)Gga>Tga	p.G1090*	RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.G475*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.G543*|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.G480*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.G560*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.G526*																							TCCAGGGGGAGGAGGAAGAGG	0.383000													35	39					1.56442e-22	2.06521e-22	1	1	0
AMIGO3	386724	broad.mit.edu	37	3	49755598	49755598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49755598G>A	ENST00000535833.1	-	10	4751	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	434					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692000													6	88					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537990	52537990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52537990C>A	ENST00000594154.1	-	5	1154	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZNF432_ENST00000221315.5_Missense_Mutation_p.E314D			O94892	ZN432_HUMAN	zinc finger protein 432	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TATAGGATTTCTCTCCAGTAT	0.418000													7	110					2.0095e-06	2.31757e-06	1	1	0
SLC25A14	9016	broad.mit.edu	37	X	129492622	129492622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129492622G>A	ENST00000543953.1	+	6	451	c.402G>A	c.(400-402)atG>atA	p.M134I	SLC25A14_ENST00000218197.5_Missense_Mutation_p.M169I|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M166I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.M166I|SLC25A14_ENST00000545805.1_Missense_Mutation_p.M169I			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	169					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGATTCGAATGCAGGCTCAAG	0.358000													31	47					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227367	75227367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75227367G>A	ENST00000342232.4	-	2	908	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAGCCGTTGCGCTTGTCGTTC	0.537000													43	55					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933907C>A	ENST00000291187.4	-	6	1353	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF229_ENST00000588931.1_Missense_Mutation_p.R350I|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507000													34	49					1.06647e-15	1.37037e-15	1	1	0
GLMN	11146	broad.mit.edu	37	1	92733470	92733470	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92733470C>A	ENST00000370360.3	-	11	1179	c.1098_splice	c.e11+1	p.Q366_splice	GLMN_ENST00000534881.1_Splice_Site_p.Q366_splice	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	366					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTTATTTACCTGAGGTACAG	0.333000									Multiple Glomus Tumors (of the Skin), Familial				10	121					1.08611e-07	1.2824e-07	1	1	0
PHKA2	5256	broad.mit.edu	37	X	18938252	18938252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18938252G>A	ENST00000379942.4	-	18	2526	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	621					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCTGGATCCAGAAAA	0.433000													36	92					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473784	31473784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31473784G>A	ENST00000457010.2	+	3	1617	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	ARMC5_ENST00000538189.1_Missense_Mutation_p.A338T|ARMC5_ENST00000268314.4_Missense_Mutation_p.A306T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A401T|ARMC5_ENST00000563544.1_Missense_Mutation_p.A306T|ARMC5_ENST00000412665.2_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	306							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGATCCTCGCCAACCTGTG	0.642000													22	15					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36886330	36886330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36886330C>T	ENST00000451493.1	-	8	1902	c.1685G>A	c.(1684-1686)tGc>tAc	p.C562Y	SPG20_ENST00000438666.2_Missense_Mutation_p.C562Y|SPG20_ENST00000494062.2_Missense_Mutation_p.C562Y|SPG20_ENST00000355182.4_Missense_Mutation_p.C562Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	562					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTTAACGATGCATTTAGCTGC	0.323000													14	45					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60760498	60760498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:60760498G>T	ENST00000261520.4	-	4	404	c.170C>A	c.(169-171)gCc>gAc	p.A57D	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000561114.1_Missense_Mutation_p.A57D|NARG2_ENST00000558654.1_Intron	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	57						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTGCTGAGGCATTCAAATT	0.343000													28	42					1.39806e-14	1.78606e-14	1	1	0
SBDS	51119	broad.mit.edu	37	7	66459326	66459326	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66459326T>C	ENST00000246868.2	-	2	314	c.131A>G	c.(130-132)gAa>gGa	p.E44G		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	44			E -> G (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGGTCTTTTTCCCTTGTGAG	0.413000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				10	93					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194070	36194070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36194070C>T	ENST00000242108.4	+	2	855	c.137C>T	c.(136-138)aCg>aTg	p.T46M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T46M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	46	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACACTGCCACGGAGGAGGAG	0.587000													33	104					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56996556	56996556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56996556C>T	ENST00000179765.5	-	20	3474	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1122H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1094H|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1124H			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1124					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACCCAGTAGCGACGTCTGTA	0.517000													5	25					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79282315	79282315	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79282315T>G	ENST00000442340.1	+	6	876	c.386T>G	c.(385-387)tTc>tGc	p.F129C	TBX22_ENST00000373294.5_Missense_Mutation_p.F249C|TBX22_ENST00000373296.3_Missense_Mutation_p.F249C|TBX22_ENST00000373291.1_Missense_Mutation_p.F129C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	249					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTAAAACATTCTCCTTTAAA	0.478000													3	70					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33568012	33568012	+	Missense_Mutation	SNP	G	G	A	rs140281612	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33568012G>A	ENST00000404816.2	+	25	4191	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	LTBP1_ENST00000402934.1_Missense_Mutation_p.D901N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D901N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1281N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.D955N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D954N|LTBP1_ENST00000418533.2_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1280	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCACAGGATGGGCAAGG	0.463000													15	30					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42950214	42950214	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42950214C>A	ENST00000350427.4	-	2	561	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	C7orf25_ENST00000431882.2_Missense_Mutation_p.D154Y|C7orf25_ENST00000438029.1_Missense_Mutation_p.D96Y|C7orf25_ENST00000447342.1_Missense_Mutation_p.D96Y|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	96										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTGTATAACCA	0.428000													13	188					0.00316338	0.00334491	1	1	0
PTX4	390667	broad.mit.edu	37	16	1537798	1537798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537798C>A	ENST00000447419.2	-	2	340	c.315G>T	c.(313-315)aaG>aaT	p.K105N	PTX4_ENST00000440447.2_Missense_Mutation_p.K105N|PTX4_ENST00000293922.1_Missense_Mutation_p.K100N			Q96A99	PTX4_HUMAN	pentraxin 4, long	105						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCACCCAGGCCTTGAGCTGCG	0.701000													6	77					0.27861	0.279982	1	1	0
MECOM	2122	broad.mit.edu	37	3	168802722	168802722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168802722G>A	ENST00000464456.1	-	15	4304	c.3104C>T	c.(3103-3105)gCt>gTt	p.A1035V	MECOM_ENST00000472280.1_Missense_Mutation_p.A1045V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1044V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Missense_Mutation_p.A1045V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1044V|MECOM_ENST00000264674.3_Missense_Mutation_p.A1109V|MECOM_ENST00000494292.1_Missense_Mutation_p.A1223V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGACTGGATAGCACTGGATTC	0.498000													32	59					0	0	1	0	0
CCL20	6364	broad.mit.edu	37	2	228678644	228678644	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228678644G>T	ENST00000409189.3	+	1	87	c.17G>T	c.(16-18)aGt>aTt	p.S6I	CCL20_ENST00000358813.4_Missense_Mutation_p.S6I	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	6					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TGTACCAAGAGTTTGCTCCTG	0.483000													5	91					0.000602214	0.000649039	1	1	0
SLC25A33	84275	broad.mit.edu	37	1	9627405	9627405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9627405A>G	ENST00000302692.6	+	3	510	c.300A>G	c.(298-300)ggA>ggG	p.G100G		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	100					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTGGTTGGAGTTGCACCAT	0.423000													47	91					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63956725	63956725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63956725G>A	ENST00000443617.2	-	43	8711	c.8624C>T	c.(8623-8625)gCg>gTg	p.A2875V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2875					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTGTTACCGCTGAGCGACC	0.428000													7	42					0	0	1	0	0
GPR126	0	broad.mit.edu	37	6	142714127	142714127	+	Missense_Mutation	SNP	G	G	A	rs144911800	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142714127G>A	ENST00000230173.6	+	8	1827	c.1351G>A	c.(1351-1353)Gtt>Att	p.V451I	GPR126_ENST00000367608.2_Missense_Mutation_p.V423I|GPR126_ENST00000296932.8_Missense_Mutation_p.V423I|GPR126_ENST00000367609.3_Missense_Mutation_p.V451I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGTTTATGTCGTTAATATCAG	0.289000													16	24					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7099810	7099810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7099810C>T	ENST00000399510.2	-	12	2149	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	DLG4_ENST00000399506.2_Missense_Mutation_p.A390T|DLG4_ENST00000302955.6_Missense_Mutation_p.A387T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	390	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTATACTGAGCGATGATCGTG	0.547000													15	26					0	0	1	0	0
PGBD2	0	broad.mit.edu	37	1	249211110	249211110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211110G>T	ENST00000539153.1	+	4	573	c.318G>T	c.(316-318)caG>caT	p.Q106H	PGBD2_ENST00000329291.5_Missense_Mutation_p.Q109H|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	109										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAACCTCAGCGCATTTGGA	0.517000													9	57					0.000274275	0.000298791	1	1	0
DDX54	79039	broad.mit.edu	37	12	113600941	113600941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113600941G>A	ENST00000314045.7	-	16	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	DDX54_ENST00000306014.5_Missense_Mutation_p.R693W	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	693			R -> Q (in dbSNP:rs11564).		estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCACCCCCGCTCGCTGTCA	0.642000													11	19					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35986132	35986132	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35986132A>G	ENST00000349699.2	-	8	988	c.945T>C	c.(943-945)ctT>ctC	p.L315L	DDX52_ENST00000394367.3_Silent_p.L207L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	315	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CGTCTACTACAAGCCACTCAA	0.443000													4	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424591	179424591	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179424591A>G	ENST00000589042.1	-	326	86492	c.86268T>C	c.(86266-86268)atT>atC	p.I28756I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I19691I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.I26188I|TTN_ENST00000359218.5_Silent_p.I19816I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I19883I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I27115I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27115	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACTGTCAATATCAAATA	0.438000													13	121					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179566	59179566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179566C>T	ENST00000380516.2	-	18	2636	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R419Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	850	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTTCGTCTCGCTCCCCTCG	0.493000													8	72					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402554	228402554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402554C>A	ENST00000570156.2	+	5	1657	c.1583C>A	c.(1582-1584)tCc>tAc	p.S528Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.S528Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S528Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGAGAGTTCCGTGATTCTC	0.597000													13	11					1.61879e-10	1.99744e-10	1	1	0
MMP20	9313	broad.mit.edu	37	11	102487664	102487664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102487664C>T	ENST00000260228.2	-	2	265	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	85					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G85W(1)|p.G85R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCTAACTTCCCGGTGACTTGG	0.478000													17	34					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64424038	64424038	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64424038T>A	ENST00000353874.4	+	11	1204	c.1168T>A	c.(1168-1170)Ttc>Atc	p.F390I	SNX1_ENST00000561026.1_Missense_Mutation_p.F325I|SNX1_ENST00000261889.5_Missense_Mutation_p.F390I|SNX1_ENST00000560829.1_Missense_Mutation_p.F172I|SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000559844.1_Missense_Mutation_p.F390I			Q13596	SNX1_HUMAN	sorting nexin 1	390	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAATGACTTCTTCCTCCTTGC	0.512000													31	52					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1957156	1957156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1957156G>A	ENST00000378585.4	+	4	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	150						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCCGACGGCGTGATCCTG	0.677000													21	22					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67813479	67813479	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67813479C>A	ENST00000422365.2	+	13	1836	c.1665C>A	c.(1663-1665)agC>agA	p.S555R	MCMDC2_ENST00000541540.1_Missense_Mutation_p.S492R|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S555R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.S555R	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	555					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TAGAATTCAGCTTGGAAGCAG	0.353000													4	71					0.184627	0.186383	1	1	0
PAPOLG	64895	broad.mit.edu	37	2	60995624	60995624	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60995624T>A	ENST00000238714.3	+	4	515	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	89					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCTTCTGTTGTGGCTACTGTT	0.378000													7	92					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980946	76980946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76980946C>T	ENST00000315938.4	-	7	710	c.460G>A	c.(460-462)Gta>Ata	p.V154I	GDPD4_ENST00000376217.2_Missense_Mutation_p.V154I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	154					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTTGTGATTACATTACATTGC	0.328000													13	18					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407030	140407030	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140407030C>T	ENST00000286349.3	+	3	1697	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	502						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCAGGGGACTCCCTGCCCT	0.557000													15	28					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497746	108497746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108497746G>A	ENST00000368986.4	+	4	1007	c.299G>A	c.(298-300)cGc>cAc	p.R100H	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.R137H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	100					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCACCATCCGCAAGCAAGTG	0.672000													7	16					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76871012	76871012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76871012C>T	ENST00000285871.4	+	4	371	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	82										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCCAGCACACAAGAGTCAGA	0.483000													18	42					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562398	136562398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136562398G>A	ENST00000264162.2	-	10	4413	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1468	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCAGGCCCGCTTCATTGAT	0.577000													19	37					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627000													11	22					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7224947	7224947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224947T>G	ENST00000399464.2	-	18	3046	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1009R|NEURL4_ENST00000570460.1_Missense_Mutation_p.S987R	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCACAGCTGGATACCATC	0.652000													6	62					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5322786	5322786	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5322786A>G	ENST00000573584.1	-	1	694	c.185T>C	c.(184-186)tTt>tCt	p.F62S		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	62					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCGAGGCCAAAGACCACGTT	0.622000													9	88					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536258	108536258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108536258G>T	ENST00000374688.1	+	6	1321	c.611G>T	c.(610-612)aGt>aTt	p.S204I	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S258I			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	258						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAGAAGAAAAGTGAAGCAAAG	0.413000													27	65					0.000117367	0.000129652	1	1	0
PWP1	11137	broad.mit.edu	37	12	108102935	108102935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102935G>A	ENST00000412830.3	+	13	1384	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	PWP1_ENST00000541166.1_Missense_Mutation_p.A344T	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	406					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GACTGCTTCAGCTGACAAATA	0.403000													12	112					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566190	18566190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18566190C>T	ENST00000545289.1	-	5	879	c.629G>A	c.(628-630)aGa>aAa	p.R210K		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTTGGGAACTCTGTCTTCAGT	0.353000													5	51					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73499250	73499250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73499250G>A	ENST00000321617.3	-	18	2491	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CASKIN2_ENST00000433559.2_Silent_p.G553G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	635						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGCGCCCGCCTTCGCTGA	0.692000													4	7					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589306	17589306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17589306C>T	ENST00000319363.6	+	13	1330	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	399	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAAATTCGCCCAGTTCCTGC	0.642000													17	30					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32854484	32854484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32854484G>T	ENST00000452533.2	+	2	402	c.238G>T	c.(238-240)Gga>Tga	p.G80*	DNM1L_ENST00000414834.2_Missense_Mutation_p.Q11H|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G80*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G80*|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G80*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	80	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAACAACAGGAGAAGAAAA	0.363000													15	45					3.32936e-07	3.90007e-07	1	1	0
TFG	10342	broad.mit.edu	37	3	100447624	100447624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100447624C>T	ENST00000240851.4	+	4	677	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TFG_ENST00000418917.2_Nonsense_Mutation_p.R113*|TFG_ENST00000476228.1_Nonsense_Mutation_p.R113*|TFG_ENST00000490574.1_Nonsense_Mutation_p.R113*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GATAGAACTTCGAAATAAAGT	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								45	54					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135741287	135741287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135741287G>T	ENST00000370629.2	+	5	555	c.499G>T	c.(499-501)Gga>Tga	p.G167*	CD40LG_ENST00000370628.2_Nonsense_Mutation_p.G146*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	167					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TAAAAGACAAGGACTCTATTA	0.458000									Immune Deficiency with Hyper-IgM				156	239					7.32068e-81	9.91428e-81	1	1	0
SDK2	54549	broad.mit.edu	37	17	71415339	71415339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71415339G>A	ENST00000392650.3	-	16	2152	c.2152C>T	c.(2152-2154)Cac>Tac	p.H718Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H718Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	718	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATTCTGGTGGCTCTCAGGA	0.622000													8	9					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57577599	57577599	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57577599A>G	ENST00000243077.3	+	36	6302	c.5836A>G	c.(5836-5838)Atc>Gtc	p.I1946V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1946					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGAGCACGATCAGCCGGGC	0.602000													11	36					0	0	1	0	0
INSR	0	broad.mit.edu	37	19	7267515	7267515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267515C>A	ENST00000341500.5	-	2	532	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	INSR_ENST00000302850.5_Missense_Mutation_p.D165Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	165					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCACGGAATCCAGGATACGG	0.537000													7	51					1.26484e-09	1.54084e-09	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31369161	31369161	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31369161G>T	ENST00000542188.1	-	2	394	c.81C>A	c.(79-81)acC>acA	p.T27T	TRPM1_ENST00000559179.1_5'UTR|TRPM1_ENST00000256552.6_Silent_p.T10T|TRPM1_ENST00000397795.2_5'UTR	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTTGCAAAAGGTTTTCTCTA	0.388000													4	66					2.56e-06	2.9446e-06	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117329587	117329587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117329587G>A	ENST00000321322.6	-	19	3632	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R941W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1151	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCTCCACCCGCTCCCGCGTG	0.637000													19	44					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256729	52256729	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52256729G>T	ENST00000597542.1	-	9	2632	c.1675C>A	c.(1675-1677)Ctc>Atc	p.L559I	TLR9_ENST00000494383.1_Missense_Mutation_p.P688H|TLR9_ENST00000360658.2_Missense_Mutation_p.L535I			Q9NR96	TLR9_HUMAN	toll-like receptor 9	535					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCGTGGTAGAGGTCCAGCTTA	0.612000													5	50					0.014758	0.0152625	1	1	0
RNF144A	9781	broad.mit.edu	37	2	7170284	7170284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7170284A>G	ENST00000320892.6	+	8	1127	c.685A>G	c.(685-687)Aag>Gag	p.K229E	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	229						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACACTACGATAAGGGACCCTG	0.542000													28	40					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905806	149905806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149905806C>T	ENST00000439741.2	-	8	963	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	238	Myotubularin phosphatase.						phosphatase activity	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCCAGAATTCGGTTAGGGAC	0.483000													44	95					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126224682	126224682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126224682G>A	ENST00000290868.2	-	8	728	c.675C>T	c.(673-675)acC>acT	p.T225T	UROC1_ENST00000383579.3_Silent_p.T225T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	225					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CATTCAACACGGTGAGCTGCA	0.662000													7	17					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604283	29604283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29604283G>A	ENST00000318184.5	-	22	2749	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	917	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTACCTGCCGTCTTTCTCTT	0.413000													8	20					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299185	61299185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61299185T>G	ENST00000217159.1	+	8	1766	c.1561T>G	c.(1561-1563)Tcg>Gcg	p.S521A	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S521A	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	521	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCTCGGACGGCCT	0.657000													25	41					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	34					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611871	44611871	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44611871C>A	ENST00000273320.3	+	6	1698	c.1269C>A	c.(1267-1269)acC>acA	p.T423T	ZKSCAN7_ENST00000426540.1_Silent_p.T423T|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TCAGGCAAACCTCCCAGCTCA	0.478000													12	26					7.03913e-09	8.47891e-09	1	1	0
PARP15	165631	broad.mit.edu	37	3	122351054	122351054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122351054C>T	ENST00000483793.1	+	7	1015	c.975C>T	c.(973-975)taC>taT	p.Y325Y	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.Y286Y|PARP15_ENST00000464300.2_Silent_p.Y520Y|PARP15_ENST00000493645.1_Silent_p.Y217Y			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	498	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTCTTCCTACGCAATAGAGA	0.358000													15	16					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383465	12383465	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383465C>T	ENST00000356109.5	-	5	1867	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	ZNF44_ENST00000355684.5_Silent_p.K535K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTGCATTGCTTACATTCAT	0.408000													6	7					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283195	52283195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52283195T>C	ENST00000301190.6	+	4	793	c.566T>C	c.(565-567)gTg>gCg	p.V189A	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.V54A|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	54										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACTACTATGTGGGCCTGGAC	0.627000													9	60					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931595	73931595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931595G>A	ENST00000302351.4	-	2	1846	c.716C>T	c.(715-717)gCa>gTa	p.A239V	ENC1_ENST00000537006.1_Missense_Mutation_p.A239V|ENC1_ENST00000510316.1_Missense_Mutation_p.A166V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	239					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCAGAAGTGCCAGCCTTAC	0.488000													50	5					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670713	95670713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95670713C>T	ENST00000298912.4	-	9	1086	c.973G>A	c.(973-975)Gtc>Atc	p.V325I		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	325						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAACGAAGACTTTGCTCTCC	0.433000													36	57					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67690161	67690161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67690161C>A	ENST00000334583.6	+	34	4101	c.3773C>A	c.(3772-3774)cCt>cAt	p.P1258H	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1222H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1258										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACGGAGGCCCCTCCCATCTCG	0.602000													9	94					0.000442599	0.00048047	1	1	0
RADIL	55698	broad.mit.edu	37	7	4855923	4855923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4855923C>T	ENST00000399583.3	-	8	2089	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	RADIL_ENST00000538469.1_Silent_p.S394S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	634	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGAGCATCTGCGAGGCCACCT	0.682000													10	3					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236827	33236827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33236827G>T	ENST00000401073.2	+	6	2117	c.2047G>T	c.(2047-2049)Gct>Tct	p.A683S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A635S|KIAA1522_ENST00000373480.1_Missense_Mutation_p.A624S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	624	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTAACCCAGCTGCCCCTGC	0.632000													21	44					8.04996e-18	1.04647e-17	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129265659	129265659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129265659C>A	ENST00000287295.3	-	14	1794	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	AIFM1_ENST00000440263.1_Nonsense_Mutation_p.E170*|AIFM1_ENST00000460436.2_Nonsense_Mutation_p.E183*|AIFM1_ENST00000319908.3_Nonsense_Mutation_p.E518*|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Nonsense_Mutation_p.E235*	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	522					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGACTGCTCTGTGGCAGAT	0.488000													14	257					3.27435e-08	3.90559e-08	1	1	0
HDX	139324	broad.mit.edu	37	X	83723698	83723698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83723698G>A	ENST00000297977.5	-	3	1144	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	HDX_ENST00000506585.2_Missense_Mutation_p.P287S|HDX_ENST00000373177.2_Missense_Mutation_p.P345S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTTCCTGGTCCGGGCAAG	0.428000													21	32					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161379	55161379	+	Silent	SNP	C	C	T	rs149498489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161379C>T	ENST00000257290.5	+	23	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	FIP1L1_ENST00000507166.1_Silent_p.I830I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1070	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I1070I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGAAGACATCGACATGATGG	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			29	56					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509913	171509913	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171509913A>G	ENST00000367742.3	+	16	3550	c.3308A>G	c.(3307-3309)cAg>cGg	p.Q1103R	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1103R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1101R|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1101R			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1101							protein C-terminus binding										AAACCATCTCAGGATACTGAG	0.458000													3	48					0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398222	131398222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131398222C>A	ENST00000296870.2	+	4	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	100					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TCCACAGAATCTCCTGCCATG	0.607000													7	209					0.0293803	0.0301098	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40135961	40135961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40135961G>A	ENST00000278198.2	-	2	3845	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R628*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	628					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTTCATTCGGATCAATAAC	0.303000													26	55					0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86690887	86690887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86690887C>T	ENST00000508855.1	-	7	737	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	CCNH_ENST00000256897.4_Missense_Mutation_p.V303I|CCNH_ENST00000504878.1_Missense_Mutation_p.V229I			P51946	CCNH_HUMAN	cyclin H	303					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTTGAGACGTAATCATCA	0.313000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					51	121					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153660611	153660611	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153660611G>T	ENST00000369762.2	+	4	424		c.e4-1		ATP6AP1_ENST00000484908.1_Splice_Site	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1						ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGTCCCCAGAATGCCCTGG	0.642000											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	16					1.26484e-09	1.54084e-09	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211444642	211444642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211444642G>T	ENST00000367005.4	+	2	259	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	RCOR3_ENST00000452621.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000419091.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000367006.4_Missense_Mutation_p.D98Y	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	40	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGTATCCCAGATGCCAAATG	0.358000													17	37					1.87028e-06	2.164e-06	1	1	0
SMEK1	55671	broad.mit.edu	37	14	91927861	91927861	+	Missense_Mutation	SNP	G	G	A	rs141774507		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91927861G>A	ENST00000554684.1	-	14	2712	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	SMEK1_ENST00000337238.4_Missense_Mutation_p.T739M|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.T513M|SMEK1_ENST00000428424.2_Missense_Mutation_p.T513M|SMEK1_ENST00000554943.1_Missense_Mutation_p.T752M			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	752						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTAGTCTTCGTTCCACTGGA	0.488000													84	126					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428206	71428206	+	Silent	SNP	G	G	A	rs139365371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71428206G>A	ENST00000373657.1	-	3	644	c.42C>T	c.(40-42)tcC>tcT	p.S14S	ERCC6L_ENST00000334463.3_Silent_p.S137S|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	137					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAACATACCGGAAAGGAAAG	0.403000													5	178					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808831	77808831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808831C>T	ENST00000269397.4	-	5	787	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	204	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAGCCTTTGGCCCCCGCACCT	0.736000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015264	110015264	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110015264G>A	ENST00000309415.6	+	4	1164	c.1164G>A	c.(1162-1164)acG>acA	p.T388T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	388							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAGTGTGACGCACAGATCCT	0.592000													9	9					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98519468	98519468	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98519468G>T	ENST00000326840.6	-	15	2175	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L619M	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	605					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTTGGACTCAGGTGATTAACT	0.502000													8	116					0.0477658	0.0488009	1	1	0
TRIM45	80263	broad.mit.edu	37	1	117663672	117663672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117663672G>A	ENST00000256649.4	-	1	678	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TRIM45_ENST00000369464.3_Missense_Mutation_p.T51M|TRIM45_ENST00000369461.3_Intron	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	51						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCAGACACGTGGTGCAAAC	0.562000													9	60					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112616	59112616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112616C>T	ENST00000395153.3	+	4	1311	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	DACT1_ENST00000556859.1_Silent_p.A144A|DACT1_ENST00000395151.3_Silent_p.A144A|DACT1_ENST00000335867.4_Silent_p.A425A|DACT1_ENST00000541264.2_Silent_p.A144A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	425					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AATCAAAGGCCGAACAAGCCG	0.572000													13	29					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588879	6588879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588879C>A	ENST00000285599.3	+	4	584	c.548C>A	c.(547-549)gCc>gAc	p.A183D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A183D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	183					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGAAGGCAGCCATGCAGGAG	0.652000													4	14					1	1	1	1	0
CLK2	1196	broad.mit.edu	37	1	155233072	155233072	+	Silent	SNP	G	G	A	rs146354358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155233072G>A	ENST00000368361.4	-	13	1752	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.F479F|CLK2_ENST00000361168.5_Silent_p.F478F|CLK2_ENST00000355560.4_Silent_p.F477F			P49760	CLK2_HUMAN	CDC-like kinase 2	479	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGGCGGGCGAAGAAAGGAT	0.562000								Other conserved DNA damage response genes					21	27					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44022455	44022455	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44022455G>A	ENST00000262726.7	-	20	2590	c.2337C>T	c.(2335-2337)gaC>gaT	p.D779D	EFCAB6_ENST00000396231.2_Silent_p.D627D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAACTCGTCGTCTTTGAGAT	0.433000													38	40					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328717	6328717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6328717C>A	ENST00000344545.5	+	1	369	c.122C>A	c.(121-123)gCt>gAt	p.A41D	TPD52L3_ENST00000314556.3_Missense_Mutation_p.A41D|TPD52L3_ENST00000381428.1_Missense_Mutation_p.A41D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	41							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAATTGGAGGCTGAAATTGTA	0.517000													5	48					0.000602214	0.000649039	1	1	0
GPSM2	29899	broad.mit.edu	37	1	109445823	109445823	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109445823T>A	ENST00000406462.1	+	10	1802	c.1029T>A	c.(1027-1029)caT>caA	p.H343Q	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.H343Q			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	343					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCAATGCATTTTGCTGAAA	0.373000													42	27					0	0	1	0	0
HIST2H2BA	0	broad.mit.edu	37	1	120906108	120906108	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120906108G>A	ENST00000430394.1	+	0	81					NR_027337.1																						TTACGAGAGTGCAGAAGAAGG	0.547000													15	96					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443000													11	37					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89582884	89582884	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89582884G>T	ENST00000370466.3	-	6	927	c.659C>A	c.(658-660)cCt>cAt	p.P220H	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	220					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCACAACCGAGGATCATTAAA	0.383000													4	70					1.23904e-05	1.39987e-05	1	1	0
CCDC150	284992	broad.mit.edu	37	2	197511104	197511104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511104C>T	ENST00000389175.4	+	2	187	c.52C>T	c.(52-54)Cca>Tca	p.P18S	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	18										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCTTTCTCCAACCCACAT	0.418000													44	63					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994996	140994996	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140994996G>T	ENST00000285879.4	+	4	2092	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCAGGGGGAGGACTCCA	0.582000										HNSCC(15;0.026)			158	233					5.91039e-102	8.00551e-102	1	1	0
CTD-2324F15.2	0	broad.mit.edu	37	5	6312523	6312523	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6312523C>T	ENST00000507444.1	-	0	449					NR_028351.1																						CCCTAGAAGACGGGTCCCTCC	0.592000													5	8					0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23685739	23685739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23685739C>T	ENST00000379341.4	+	1	177	c.52C>T	c.(52-54)Cga>Tga	p.R18*	PRDX4_ENST00000379331.3_Nonsense_Mutation_p.R18*|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	18					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGGCCGCCACCGAAGgctgct	0.687000													4	4					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762895	92762895	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762895G>T	ENST00000318238.4	-	5	3606	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P797H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P797H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	797										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAAGCACAGGAATGTAATC	0.383000													39	113					2.75727e-19	3.60684e-19	1	1	0
TDRD9	122402	broad.mit.edu	37	14	104460675	104460675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104460675G>A	ENST00000409874.4	+	10	1235	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D	TDRD9_ENST00000339063.5_Missense_Mutation_p.G396D	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	396	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAGGTCTGGGTGAAATAAAT	0.338000													9	143					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964317	6964317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6964317C>T	ENST00000278319.5	+	5	1075	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZNF215_ENST00000414517.2_Missense_Mutation_p.P163S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P163S|ZNF215_ENST00000527171.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	163					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTTTTAGGAACCAGTGACATT	0.428000													40	62					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64824954	64824954	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64824954G>T	ENST00000358658.3	-	4	519	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NAALADL1_ENST00000339885.2_Silent_p.V164V|NAALADL1_ENST00000340252.4_Silent_p.V164V|NAALADL1_ENST00000355369.2_Silent_p.V164V|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000356632.3_Silent_p.V164V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	164					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTTGGCATAGACGAGGAGGC	0.592000													8	26					1.12685e-05	1.27857e-05	1	1	0
ALAD	210	broad.mit.edu	37	9	116150607	116150607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150607C>A	ENST00000409155.3	-	12	1162	c.966G>T	c.(964-966)caG>caT	p.Q322H	ALAD_ENST00000277315.5_Missense_Mutation_p.Q305H	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	322					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ACTGCAGCAGCTGCGGTGTGT	0.532000													9	63					1.08611e-07	1.2824e-07	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116948877	116948877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116948877G>A	ENST00000229554.5	+	3	1144	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	336					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R336H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438000									Kartagener syndrome				30	54					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360539	175360539	+	Silent	SNP	G	G	A	rs148973031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175360539G>A	ENST00000367674.1	-	7	2100	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	TNR_ENST00000263525.2_Silent_p.S464S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	464	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S464S(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACGTAACATCGCTGGGGACCT	0.522000													17	21					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624626	48624626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48624626G>T	ENST00000328333.8	-	23	3243	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1046T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1046	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATACCTGGCGTCTGTGTG	0.612000													4	13					3.59834e-05	4.01776e-05	1	1	0
C1orf194	127003	broad.mit.edu	37	1	109650660	109650660	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109650660C>A	ENST00000369949.4	-	2	225		c.e2-1		C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Splice_Site	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194											large_intestine(2)|lung(2)|ovary(2)	6						ATGGCAATTTCTGCAAAAGAG	0.493000													5	167					0.217242	0.218821	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107834511	107834511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834511C>T	ENST00000379028.3	-	17	2205	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V560I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V560I|NRCAM_ENST00000351718.4_Missense_Mutation_p.V573I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V579I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V579I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	579	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCACAGGACAGTGAGGGAT	0.418000													52	52					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635693	44635693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44635693G>T	ENST00000322734.2	+	3	341	c.8G>T	c.(7-9)aGa>aTa	p.R3I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAAATGAGGAGAAAGACAAGA	0.403000													4	34					1.23904e-05	1.39987e-05	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789708	133789708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133789708C>T	ENST00000321016.8	-	18	4142	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	IGSF9B_ENST00000533871.2_Silent_p.T1304T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1304	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGGGGAAGGCGTCTGTCCAA	0.687000													11	13					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172379134	172379134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172379134G>A	ENST00000321348.4	+	1	277	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	CYBRD1_ENST00000375252.3_Missense_Mutation_p.A27T|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Intron	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	27	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGTGATCTTCGCCCTCGTCTG	0.642000													4	11					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496859	62496859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62496859C>T	ENST00000225792.5	-	12	1650	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.D338N|DDX5_ENST00000578804.1_Missense_Mutation_p.D417N	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	417	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGGGTAGTCATAATTGATG	0.408000			T	ETV4	prostate								5	66					0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152914912	152914912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152914912G>A	ENST00000342782.3	+	3	864	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DUSP9_ENST00000370167.4_Missense_Mutation_p.R200Q			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	200					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGCTGCGGGCATCCTTC	0.637000													22	48					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204103686	204103686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204103686G>T	ENST00000367199.2	-	6	1248	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	ETNK2_ENST00000367197.1_Missense_Mutation_p.L31I|ETNK2_ENST00000367202.4_Missense_Mutation_p.L349I|ETNK2_ENST00000367198.2_Missense_Mutation_p.L171I|ETNK2_ENST00000367201.3_Missense_Mutation_p.P384H			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	349							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCTGGATGAGGGCCCAGAGA	0.567000													13	37					1.5842e-08	1.90059e-08	1	1	0
SGSM2	9905	broad.mit.edu	37	17	2274584	2274584	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2274584C>A	ENST00000268989.3	+	13	1629	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SGSM2_ENST00000426855.2_Silent_p.G439G|SGSM2_ENST00000574563.1_Silent_p.G439G	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	439						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGATGCAGGGCTTTGGGCCCA	0.662000													7	12					0.27861	0.279982	1	1	0
NSD1	64324	broad.mit.edu	37	5	176707732	176707732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176707732G>A	ENST00000439151.2	+	18	5834	c.5789G>A	c.(5788-5790)cGc>cAc	p.R1930H	NSD1_ENST00000347982.4_Missense_Mutation_p.R1661H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1827H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1661H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1930	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCGGAGGGCGCTGTCAAAAC	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	53					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158323018	158323018	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158323018C>T	ENST00000392185.3	+	6	732	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	187					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGATGCAGGCGGCGCTCAGC	0.502000													19	39					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901467	52901467	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901467G>T	ENST00000261844.7	-	6	1796	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S	FAM214A_ENST00000546305.2_Silent_p.S555S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	548																	CTCCTAACAAGGAACATTTTG	0.303000													4	39					0.00909568	0.00947522	1	1	0
MKI67	4288	broad.mit.edu	37	10	129908731	129908731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129908731G>A	ENST00000368654.3	-	12	2702	c.2327C>T	c.(2326-2328)gCt>gTt	p.A776V	MKI67_ENST00000368653.3_Missense_Mutation_p.A416V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	776					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTGAAATAGCGATGTGACA	0.408000													40	85					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59384789	59384789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59384789G>T	ENST00000348370.4	+	13	3226	c.2793G>T	c.(2791-2793)gaG>gaT	p.E931D	RNF111_ENST00000559209.1_Missense_Mutation_p.E940D|RNF111_ENST00000434298.1_Missense_Mutation_p.E948D|RNF111_ENST00000557998.1_Missense_Mutation_p.E939D|RNF111_ENST00000561186.1_Missense_Mutation_p.E948D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	939				E -> G (in Ref. 2; CAD98031).	multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGACACAGAGGAAAAATGTA	0.368000													3	10					0.00909568	0.00947522	1	1	0
FBN1	2200	broad.mit.edu	37	15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	rs141551765	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48802279G>A	ENST00000316623.5	-	14	2131	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	559	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408000													16	55					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346234	116346234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346234G>A	ENST00000374140.2	+	21	2751	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	RGS3_ENST00000350696.5_Missense_Mutation_p.A848T|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.A169T|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.A567T|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.A169T	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGACCCACCTGCGGCCCCCAG	0.642000													17	36					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124333	27124333	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27124333T>G	ENST00000354828.3	+	5	868	c.341T>G	c.(340-342)gTt>gGt	p.V114G	GABPA_ENST00000400075.3_Missense_Mutation_p.V114G|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	114					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGAAATTGTTAAACCTGCG	0.348000													28	48					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30842578	30842578	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30842578A>G	ENST00000454381.3	-	12	1099	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	GADL1_ENST00000282538.5_Silent_p.D351D			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	351					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTAAGAAGATCCTTCGAAA	0.353000													24	40					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93621972	93621972	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93621972A>G	ENST00000370282.3	-	3	841	c.356T>C	c.(355-357)gTg>gCg	p.V119A	TMED5_ENST00000479918.1_Missense_Mutation_p.V119A|TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.V119A	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	119	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AAAGAAAATCACCTTCTCAGA	0.328000													7	110					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103452906	103452906	+	Missense_Mutation	SNP	G	G	T	rs62006862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103452906G>T	ENST00000361246.2	-	6	896	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	203	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACATTGTCAGGTTTAATGTC	0.383000													9	69					1.58986e-06	1.84011e-06	1	1	0
CNNM3	26505	broad.mit.edu	37	2	97494834	97494834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494834G>T	ENST00000305510.3	+	7	2050	c.2022G>T	c.(2020-2022)caG>caT	p.Q674H	CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q626H|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	674					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CAGGCAGCCAGACCAGGCTCC	0.597000													4	37					0.00024832	0.0002712	1	1	0
GNA15	2769	broad.mit.edu	37	19	3151734	3151734	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3151734A>G	ENST00000262958.3	+	4	773	c.515A>G	c.(514-516)gAg>gGg	p.E172G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	172					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGCATCACCGAGGAGGGCTAC	0.632000													4	119					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497224	134497224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134497224G>T	ENST00000372195.1	-	11	2107	c.1864C>A	c.(1864-1866)Ctg>Atg	p.L622M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L605M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L623M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	605					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCGGGGCCAGCTCCTGCACG	0.602000													6	11					2.0095e-06	2.31757e-06	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46930540	46930540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930540G>A	ENST00000262738.3	-	1	2527	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I	CELSR1_ENST00000395964.1_Missense_Mutation_p.T843I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	843	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGTACATGGTGCCACTGTC	0.582000													22	44					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116263743	116263743	+	Missense_Mutation	SNP	C	C	A	rs12209851		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116263743C>A	ENST00000606080.1	-	8	1798	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	FRK_ENST00000538210.1_Missense_Mutation_p.R309I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	451	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGCGGAAGTCTATAGTTTTG	0.423000													9	106					0.00448238	0.00472561	1	1	0
B4GALT4	8702	broad.mit.edu	37	3	118935107	118935107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118935107G>A	ENST00000467604.1	-	7	1273	c.882C>T	c.(880-882)ggC>ggT	p.G294G	B4GALT4_ENST00000393765.2_Silent_p.G294G|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.G294G|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.G294G			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	294					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCACCTCATTGCCTTTGTCTC	0.453000													11	31					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42729720	42729720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729720C>T	ENST00000432191.2	+	2	88	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.R24*|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.R13*	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTCTGAGGGACGATATGAATA	0.378000													36	40					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111369364	111369364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111369364C>T	ENST00000525791.1	-	2	322	c.138G>A	c.(136-138)tgG>tgA	p.W46*	BTG4_ENST00000356018.2_Nonsense_Mutation_p.W46*			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	46					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AATCAGAGTGCCAGTGACTTC	0.433000													18	33					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321882	55321882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321882C>T	ENST00000314644.2	+	1	100	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCAAATTTTCCTTTGTCCTAA	0.368000										HNSCC(20;0.049)			51	105					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756983	248756983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756983C>T	ENST00000330500.2	-	1	117	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAGATAAGCAAGCAGAGGC	0.473000													6	43					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80160632	80160632	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80160632G>T	ENST00000265081.6	+	22	3081	c.3000_splice	c.e22-1	p.V1001_splice		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1001					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCTTTAGGTGAAATCCTT	0.313000								Mismatch excision repair (MMR)					4	46					0.00909568	0.00947522	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32735686	32735686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32735686C>A	ENST00000421745.2	+	53	10465	c.10331C>A	c.(10330-10332)cCt>cAt	p.P3444H		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3444					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAGGATCCTGGTACAAAA	0.338000													9	117					0.000442599	0.00048047	1	1	0
DAB2	1601	broad.mit.edu	37	5	39375182	39375182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39375182G>T	ENST00000320816.6	-	14	2719	c.2252C>A	c.(2251-2253)gCt>gAt	p.A751D	DAB2_ENST00000545653.1_Missense_Mutation_p.A730D|DAB2_ENST00000339788.6_Missense_Mutation_p.A533D|DAB2_ENST00000509337.1_Missense_Mutation_p.A730D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	751	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAGAAGAAGCCACCTAAGA	0.343000													6	55					0.0215528	0.0221649	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124179474	124179474	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124179474T>C	ENST00000303372.5	+	10	1313	c.1185T>C	c.(1183-1185)agT>agC	p.S395S	TCTN2_ENST00000426174.2_Silent_p.S394S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	395					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATACCATCAGTGAAATAAATG	0.318000													12	69					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995485	120995485	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995485G>T	ENST00000325954.4	+	6	1428	c.967_splice	c.e6+1	p.D323_splice	RNF10_ENST00000413266.2_Splice_Site_p.D323_splice	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	323					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTAGGAGGTGAGTTCTT	0.428000													11	118					2.27111e-07	2.66951e-07	1	1	0
MTMR14	64419	broad.mit.edu	37	3	9714435	9714435	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714435G>A	ENST00000296003.4	+	7	866	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_ENST00000351233.5_Silent_p.P248P|MTMR14_ENST00000353332.5_Silent_p.P248P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	248						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552000													35	58					0	0	1	0	0
DYNLT1	6993	broad.mit.edu	37	6	159058914	159058914	+	Missense_Mutation	SNP	C	C	T	rs142843740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159058914C>T	ENST00000367085.3	-	3	111	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DYNLT1_ENST00000367088.1_5'UTR|DYNLT1_ENST00000367089.3_Missense_Mutation_p.A28T			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	28					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCACCAATTGCGCTTTCTATA	0.463000													25	50					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85638665	85638665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85638665C>T	ENST00000393217.2	+	27	5176	c.5115C>T	c.(5113-5115)caC>caT	p.H1705H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1705										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGGCACACAGACACTCAG	0.378000													25	31					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008933	45008933	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45008933A>G	ENST00000458659.2	-	3	3541	c.3051T>C	c.(3049-3051)aaT>aaC	p.N1017N	TSC22D1_ENST00000261489.2_Silent_p.N88N|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1017	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCAGCTGGGAATTTTTCTCTA	0.502000													10	83					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	rs145062166	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113697048G>A	ENST00000295878.3	-	16	2737	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	864										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACTGTGCTCCGCTGCAATCTC	0.423000													30	56					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156226	146156226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156226C>A	ENST00000276816.4	-	4	2133	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	ZNF16_ENST00000394909.2_Missense_Mutation_p.R649S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGTGTGAATCCTCTGGTGCT	0.522000													7	101					2.7689e-08	3.31013e-08	1	1	0
BMP1	649	broad.mit.edu	37	8	22056812	22056812	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22056812A>G	ENST00000397816.3	+	16	2604	c.2385A>G	c.(2383-2385)cgA>cgG	p.R795R	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000306385.5_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACCCACCGAGGAGACCCTA	0.622000													9	66					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42206291	42206291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42206291G>T	ENST00000255784.5	+	4	410	c.306G>T	c.(304-306)aaG>aaT	p.K102N	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	102						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAGCTGAAGGATGGTATGG	0.617000													5	14					0.184627	0.186383	1	1	0
PELI3	246330	broad.mit.edu	37	11	66235654	66235654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66235654C>T	ENST00000349459.6	+	2	339	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PELI3_ENST00000524466.1_Missense_Mutation_p.H19Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Missense_Mutation_p.H19Y	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	19						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGACCTCCAGCACCGGGGGAA	0.597000													10	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534102	92534102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92534102C>T	ENST00000298047.6	+	9	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S	FAT3_ENST00000525166.1_Silent_p.S2491S|FAT3_ENST00000409404.2_Silent_p.S2641S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2641	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2641S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTATAGCGAGGCCTCTG	0.473000										TCGA Ovarian(4;0.039)			4	15					0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109579	94109579	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94109579A>G	ENST00000358935.2	+	5	1037	c.705A>G	c.(703-705)ttA>ttG	p.L235L		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	235					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACTCTAATTTACAAAGGACAA	0.343000													40	68					0	0	1	0	0
PPT2-EGFL8	0	broad.mit.edu	37	6	32125413	32125413	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32125413G>T	ENST00000422437.1	+	6	732		c.e6-1		PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000324816.6_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site																							TTTGTACCCAGATCCCCACCA	0.498000													5	32					1.23904e-05	1.39987e-05	1	1	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630358	43630358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43630358C>T	ENST00000431635.2	-	9	1139	c.991G>A	c.(991-993)Gct>Act	p.A331T	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A276T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	276					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCATGAGCTGTCTTGGCC	0.537000													21	38					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136698913	136698913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136698913G>T	ENST00000354570.3	-	7	1141	c.731C>A	c.(730-732)gCt>gAt	p.A244D	MAP7_ENST00000454590.1_Missense_Mutation_p.A266D|MAP7_ENST00000544465.1_Missense_Mutation_p.A229D|MAP7_ENST00000432797.2_Missense_Mutation_p.A98D|MAP7_ENST00000438100.2_Missense_Mutation_p.A229D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	244					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGACAAGGCAGCTGTGCTTTT	0.517000													22	15					5.45024e-15	6.98109e-15	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85437295	85437295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85437295C>A	ENST00000359152.5	-	1	1776	c.1777G>T	c.(1777-1779)Gca>Tca	p.A593S	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.A69S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A69S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	105	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCACCTCTGCTTCATGGGTA	0.373000													43	98					2.59497e-14	3.30969e-14	1	1	0
HVCN1	84329	broad.mit.edu	37	12	111099218	111099218	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111099218C>A	ENST00000356742.5	-	3	810	c.57G>T	c.(55-57)gaG>gaT	p.E19D	HVCN1_ENST00000548312.1_Missense_Mutation_p.E19D|HVCN1_ENST00000242607.8_Missense_Mutation_p.E19D|HVCN1_ENST00000439744.2_5'UTR			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	19					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGCTCATCCTCTCAGCGGGAG	0.577000													4	35					0.014758	0.0152625	1	1	0
ZNF613	79898	broad.mit.edu	37	19	52448086	52448086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448086G>A	ENST00000293471.6	+	6	1629	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G281E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACATGGATGCAGCCTG	0.458000													21	34					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159663	52159663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52159663A>T	ENST00000354534.5	+	16	2931	c.2753A>T	c.(2752-2754)cAt>cTt	p.H918L	SCN8A_ENST00000545061.1_Missense_Mutation_p.H918L|SCN8A_ENST00000550891.1_Missense_Mutation_p.H918L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	918					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTCGCTGGCATATGCATGAC	0.502000													23	159					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66426196	66426196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66426196G>T	ENST00000404260.3	+	15	2221	c.1913G>T	c.(1912-1914)tGc>tTc	p.C638F	MAST4_ENST00000403625.2_Missense_Mutation_p.C635F|MAST4_ENST00000403666.1_Missense_Mutation_p.C446F|MAST4_ENST00000405643.1_Missense_Mutation_p.C456F|MAST4_ENST00000261569.7_Missense_Mutation_p.C441F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	638	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGTATTGCTCCTTTGAA	0.468000													10	81					2.68362e-12	3.37045e-12	1	1	0
SLC1A1	6505	broad.mit.edu	37	9	4567705	4567705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4567705G>A	ENST00000262352.3	+	6	756	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	174					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTCCCAGCGATCCAGAGAT	0.413000													6	10					0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133682774	133682774	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682774T>A	ENST00000355557.2	+	5	2194	c.911T>A	c.(910-912)aTt>aAt	p.I304N	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.I201N	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATGAATGCATTGAATGTGGG	0.408000													13	94					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883718	12883718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12883718C>T	ENST00000264827.5	-	5	434	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.A88A	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	88	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ACACAGGATGCGCCAGGACCT	0.592000													16	38					0	0	1	0	0
KIAA1704	0	broad.mit.edu	37	13	45594492	45594492	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45594492A>C	ENST00000361121.2	+	7	768	c.733A>C	c.(733-735)Agt>Cgt	p.S245R	KIAA1704_ENST00000357537.3_Missense_Mutation_p.S75R|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S245R			Q8IXQ4	K1704_HUMAN		245										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GAAGTCATCCAGTAAGAAAGA	0.303000													8	56					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044227	180044227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180044227C>T	ENST00000367607.3	+	28	6056	c.5638C>T	c.(5638-5640)Cga>Tga	p.R1880*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1880						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGTGGAAGCGACGTTTAGA	0.428000													5	19					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274504	56274504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56274504G>A	ENST00000225371.5	+	7	1116	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	336					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGGGCTGCTGGCCATCAACCA	0.647000													25	48					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506229	131506229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:131506229C>T	ENST00000306010.7	+	3	321	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CACAGCCTGGCTGAATGCCTA	0.597000								Direct reversal of damage					35	44					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17129551	17129551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17129551G>T	ENST00000285071.4	-	5	789	c.335C>A	c.(334-336)cCc>cAc	p.P112H	FLCN_ENST00000389169.5_Missense_Mutation_p.P112H|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	112					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGTGGCTGGGGTGCTGGTG	0.597000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				8	63					1.26484e-09	1.54084e-09	1	1	0
NMUR1	10316	broad.mit.edu	37	2	232393708	232393708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393708G>T	ENST00000305141.4	-	2	157	c.24C>A	c.(22-24)tgC>tgA	p.C8*		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGGACAGAGCAATTGAGGC	0.572000													4	13					0.000602214	0.000649039	1	1	0
USP39	10713	broad.mit.edu	37	2	85848692	85848692	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85848692G>A	ENST00000323701.6	+	3	433	c.423G>A	c.(421-423)aaG>aaA	p.K141K	USP39_ENST00000409470.1_Silent_p.K141K|USP39_ENST00000409766.3_Silent_p.K141K|USP39_ENST00000409025.1_Silent_p.K141K|USP39_ENST00000450066.2_Intron|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	141					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTGTGGCAAGTACTTTCAAG	0.388000													30	50					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34218941	34218941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34218941C>T	ENST00000435224.2	-	3	1599	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.R206Q	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGTGGACACCGCAGAAAGTA	0.642000													11	33					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35661096	35661096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35661096G>T	ENST00000373664.3	-	16	2420	c.2354C>A	c.(2353-2355)aCt>aAt	p.T785N	RBL1_ENST00000344359.3_Missense_Mutation_p.T785N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	785	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAAGGACCCAGTTCTCTTTGG	0.363000													8	172					5.68852e-11	7.05143e-11	1	1	0
DZIP1L	199221	broad.mit.edu	37	3	137790485	137790485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137790485C>A	ENST00000327532.2	-	12	1977	c.1615_splice	c.e12+1	p.V539_splice	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Splice_Site_p.G539_splice	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	539						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAGTGTACCTGAAGGCTGC	0.562000													13	25					7.03913e-09	8.47891e-09	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47969687	47969687	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47969687C>T	ENST00000318711.7	+	22	2712	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	DIP2A_ENST00000457905.3_Silent_p.I842I|DIP2A_ENST00000400274.1_Silent_p.I838I|DIP2A_ENST00000417564.2_Silent_p.I842I|DIP2A_ENST00000427143.2_Silent_p.I778I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	842					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCGCAGGATCGCTGTGTTCT	0.587000													30	72					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67254613	67254613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67254613C>T	ENST00000279146.3	+	2	354	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	79	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCGTGTGCACCATGCGAGAA	0.587000									Familial Isolated Pituitary Adenoma				42	71					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137193348	137193348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137193348C>A	ENST00000318471.4	+	8	841	c.760C>A	c.(760-762)Cat>Aat	p.H254N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	254					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTCACCATTTCATGCTTCTGT	0.318000													36	60					1.36161e-19	1.78291e-19	1	1	0
SNX4	8723	broad.mit.edu	37	3	125208288	125208288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125208288G>A	ENST00000251775.4	-	6	641	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SNX4_ENST00000536067.1_Missense_Mutation_p.A61V|SNX4_ENST00000473417.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	206					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCATTAAGCGCTTTTAACCT	0.294000													18	28					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57039093	57039093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57039093C>T	ENST00000262030.3	-	2	222	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A58T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	58					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTGGCGGCGCCTGCTTTT	0.562000													26	64					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977131	34977131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34977131G>A	ENST00000242315.3	+	6	983	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.A301T	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	301							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCCGAGCCGCCTTCCTGGC	0.582000													22	38					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743539	102743539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102743539C>A	ENST00000210633.3	+	14	2261	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y	MRPL43_ENST00000342071.1_Missense_Mutation_p.D210Y|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S723Y|MRPL43_ENST00000370242.4_Missense_Mutation_p.D210Y|MRPL43_ENST00000318325.2_Missense_Mutation_p.Q167H|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Missense_Mutation_p.Q167H|MRPL43_ENST00000370241.3_Missense_Mutation_p.Q167H|SEMA4G_ENST00000517724.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	723					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCAGGAGGATCTGCGGTGCAA	0.642000													4	7					0.150653	0.152692	1	1	0
SOX5	6660	broad.mit.edu	37	12	23687228	23687228	+	Silent	SNP	G	G	A	rs144757257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23687228G>A	ENST00000546136.1	-	14	2180	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	SOX5_ENST00000541536.1_Silent_p.Y618Y|SOX5_ENST00000545921.1_Silent_p.Y729Y|SOX5_ENST00000451604.2_Silent_p.Y739Y|SOX5_ENST00000396007.2_Silent_p.Y353Y|SOX5_ENST00000537393.1_Silent_p.Y704Y|SOX5_ENST00000309359.1_Silent_p.Y726Y|SOX5_ENST00000381381.2_Silent_p.Y618Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	739					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCTCGTCGTACTCATCAT	0.443000													45	69					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67219349	67219349	+	Missense_Mutation	SNP	G	G	A	rs142958191		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67219349G>A	ENST00000314586.6	-	10	1781	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	514			A -> D (in a breast cancer sample; somatic mutation).		exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		p.A514D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGAGCCAAGGCCCCTGAAGG	0.642000											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	60					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16465590	16465590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16465590C>A	ENST00000308683.2	-	1	311	c.185G>T	c.(184-186)aGc>aTc	p.S62I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	62						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGCCCTTGCTCTCCTCCTC	0.652000													6	63					0.0293803	0.0301098	1	1	0
ATP2C2	9914	broad.mit.edu	37	16	84497225	84497225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84497225C>T	ENST00000416219.2	+	28	2904	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Silent_p.L910L			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	910					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCAGATTTGCTGTTTTTAAC	0.502000													20	25					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132408040	132408040	+	Nonsense_Mutation	SNP	C	C	A	rs150941925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132408040C>A	ENST00000337331.5	-	20	2847	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	921					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAAGTATTCTGTTGCCATT	0.398000													10	95					0.0809354	0.0825713	1	1	0
JAG1	182	broad.mit.edu	37	20	10639258	10639258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10639258G>A	ENST00000254958.5	-	4	1067	c.552C>T	c.(550-552)cgC>cgT	p.R184R	JAG1_ENST00000423891.2_Silent_p.R25R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	184			R -> C (in ALGS1).|R -> G (in ALGS1).|R -> H (in ALGS1).|R -> L (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTCACGCGGATCTGAT	0.522000									Alagille Syndrome				30	47					0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3782428	3782428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3782428G>A	ENST00000378209.3	+	3	617	c.294G>A	c.(292-294)ggG>ggA	p.G98G	DFFB_ENST00000338895.3_Silent_p.G98G	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	98					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACAGGTGGGGCTCATCCAGG	0.607000													20	20					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8161815	8161815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8161815C>T	ENST00000600128.1	-	43	5777	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	FBN3_ENST00000270509.2_Missense_Mutation_p.R1788H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1788H			Q75N90	FBN3_HUMAN	fibrillin 3	1788	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1788L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTTGCAGCGGTAGCTACC	0.597000													5	58					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89712451	89712451	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89712451C>T	ENST00000253475.5	-	6	726	c.594G>A	c.(592-594)ccG>ccA	p.P198P	CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGGCAGAGGCGGTGCACACC	0.687000													16	18					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175070	184175070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184175070G>A	ENST00000403733.3	+	9	1313	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	WWC2_ENST00000448232.2_Missense_Mutation_p.E372K|WWC2_ENST00000513834.1_Missense_Mutation_p.E372K|WWC2_ENST00000378925.3_Missense_Mutation_p.E274K|WWC2_ENST00000504005.1_Missense_Mutation_p.E54K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGATGAATTAGAACGCCTAGA	0.458000													12	13					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000339901.4_Silent_p.D512D|SECISBP2_ENST00000534113.2_Silent_p.D517D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567000													10	61					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77267082	77267082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77267082C>A	ENST00000341514.6	+	9	2238	c.2083C>A	c.(2083-2085)Ctt>Att	p.L695I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.L695I	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATGATCAACCTTCATTCTTC	0.383000													81	171					2.36143e-25	3.13922e-25	1	1	0
LRRC39	127495	broad.mit.edu	37	1	100633981	100633981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100633981C>T	ENST00000370138.1	-	3	290	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LRRC39_ENST00000370137.1_Missense_Mutation_p.R31Q|LRRC39_ENST00000342895.3_Missense_Mutation_p.R31Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCCTTCTCTCGCTTCAGGTC	0.323000													6	62					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581101	40581101	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40581101T>C	ENST00000450241.2	-	6	1457	c.1146A>G	c.(1144-1146)ccA>ccG	p.P382P	ZNF780A_ENST00000340963.5_Silent_p.P416P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.P417P|ZNF780A_ENST00000594395.1_Silent_p.P417P|ZNF780A_ENST00000595687.2_Silent_p.P416P|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACATTCATATGGTTTTATAC	0.383000													18	231					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144193179G>A	ENST00000295095.6	+	7	651	c.484G>A	c.(484-486)Gta>Ata	p.V162I	AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299000													11	13					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52216289	52216289	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52216289C>A	ENST00000282588.6	+	17	2741	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	761					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGCACTCCTTCTACATGTTGG	0.348000													23	27					5.35356e-11	6.64197e-11	1	1	0
GOLGA5	9950	broad.mit.edu	37	14	93303730	93303730	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93303730G>T	ENST00000163416.2	+	12	2307		c.e12-1		GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGTCTGCACAGTATTCGCCTG	0.368000			T	RET	papillary thyroid								6	244					0.000274275	0.000298791	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11018798	11018798	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11018798G>T	ENST00000377004.4	-	6	527	c.528C>A	c.(526-528)ccC>ccA	p.P176P	C1orf127_ENST00000377008.4_Silent_p.P27P	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGGGGCAGGGGCCGGGAGA	0.572000													12	32					9.05144e-12	1.1316e-11	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49445725	49445725	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445725T>C	ENST00000301067.7	-	10	1740	c.1741A>G	c.(1741-1743)Atg>Gtg	p.M581V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGGGGACATGGGTGACTCC	0.577000													8	112					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198994	58198994	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58198994G>A	ENST00000282296.5	+	3	1536	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF551_ENST00000356715.4_Missense_Mutation_p.E435K|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCAGAGAATGTGGGAA	0.428000													33	53					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195134	124195134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124195134G>A	ENST00000518448.1	+	2	2052	c.38G>A	c.(37-39)cGt>cAt	p.R13H	FAM83A_ENST00000276699.6_Missense_Mutation_p.R13H|FAM83A_ENST00000546351.1_Missense_Mutation_p.R13H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R13H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R13H|FAM83A_ENST00000536633.1_Missense_Mutation_p.R13H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	13										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCGGAAGCGTCTGGAAGAT	0.647000													3	11					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953850	89953850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89953850G>A	ENST00000405460.2	+	21	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1503					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCATGCCCGCAAAAAGTGA	0.408000													37	61					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40050062	40050062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40050062G>T	ENST00000373233.3	-	31	5390	c.5213C>A	c.(5212-5214)tCa>tAa	p.S1738*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453000													51	41					1.39843e-22	1.84661e-22	1	1	0
IRS1	3667	broad.mit.edu	37	2	227662846	227662846	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227662846G>A	ENST00000305123.4	-	1	1629	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	203	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCACCACGGCCGCTGCCT	0.592000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	29					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10697569	10697569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10697569G>A	ENST00000379568.3	+	2	388	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	33					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGACTCTTGTGGCTGACTT	0.438000													25	164					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531861	7531861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7531861C>T	ENST00000313599.3	-	9	2141	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G705E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G695E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	695	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTGCTGCTTCCACCCACAAG	0.453000													12	19					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	318999	318999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:318999C>A	ENST00000428720.1	-	3	897	c.154G>T	c.(154-156)Gag>Tag	p.E52*	SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E52*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	52					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAATGATCTCCCCGGCCACT	0.562000													32	73					3.11337e-16	4.01248e-16	1	1	0
SSPO	23145	broad.mit.edu	37	7	149523191	149523191	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149523191C>T	ENST00000378016.2	+	0	14277							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGGTGTGCCCACACCAGG	0.607000													4	70					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398000													11	87					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44171934	44171934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44171934C>A	ENST00000262419.6	-	3	1893	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	KANSL1_ENST00000575318.1_Missense_Mutation_p.A475S|KANSL1_ENST00000574590.1_Missense_Mutation_p.A475S|KANSL1_ENST00000572904.1_Missense_Mutation_p.A475S|KANSL1_ENST00000432791.1_Missense_Mutation_p.A475S|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	475						MLL1 complex	protein binding										ACCTTATTAGCACGTATCTGT	0.443000													9	79					0.000274275	0.000298791	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175598271	175598271	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:175598271C>T	ENST00000274093.3	-	7	1387	c.885G>A	c.(883-885)acG>acA	p.T295T	GLRA3_ENST00000340217.5_Silent_p.T295T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	295					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGTAGTCATCGTTAGCACAG	0.463000													19	28					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21080884	21080884	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21080884T>C	ENST00000261383.3	-	23	3232	c.3233A>G	c.(3232-3234)gAc>gGc	p.D1078G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1078G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCAAATTGTCTTGTATGCG	0.473000													20	62					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037633	1037633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1037633A>G	ENST00000263097.4	+	7	1027	c.664A>G	c.(664-666)Acg>Gcg	p.T222A	CNN2_ENST00000562958.2_Missense_Mutation_p.T243A|CNN2_ENST00000565096.2_Missense_Mutation_p.T211A|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.T183A	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	222					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGCATGACGGCTCCCGG	0.617000													10	114					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	217012882	217012882	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217012882C>A	ENST00000392133.3	+	16	2014	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	XRCC5_ENST00000392132.2_Missense_Mutation_p.P518H			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	518	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATGCTGAATCCTCCCGCTGAG	0.438000								Non-homologous end-joining					5	103					0.00116845	0.00124821	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124268500	124268500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124268500G>T	ENST00000409039.3	+	8	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGTAAAGGCCCTCTGGC	0.438000													11	21					1.11149e-13	1.41171e-13	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107436903	107436903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107436903G>A	ENST00000394872.2	-	17	1261	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P344S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P343S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P343S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P343S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	344	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGGCCTGGCAGGCCAATG	0.383000									Alport syndrome with Diffuse Leiomyomatosis				51	89					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136704	104136704	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104136704A>C	ENST00000369983.3	+	33	4558	c.4298A>C	c.(4297-4299)cAg>cCg	p.Q1433P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1433					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAAGTCCCAGGAGAAACGT	0.517000													4	47					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154029414	154029414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154029414C>A	ENST00000368559.3	-	23	3188	c.3117G>T	c.(3115-3117)gaG>gaT	p.E1039D	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1039D	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1039						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CGTCCTGTTGCTCCATTGGTC	0.433000													40	43					2.40579e-17	3.11917e-17	1	1	0
ATE1	11101	broad.mit.edu	37	10	123658440	123658440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658440C>T	ENST00000369043.3	-	7	944	c.858G>A	c.(856-858)tcG>tcA	p.S286S	ATE1_ENST00000540606.1_Silent_p.S279S|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000369040.3_Silent_p.S190S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	286					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCTGAAAGACGACTTGAACT	0.433000													33	32					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729693	1729693	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1729693C>A	ENST00000313288.4	+	4	670	c.564C>A	c.(562-564)tcC>tcA	p.S188S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	188						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTTAGTTCCTATTCCTTAG	0.557000													7	38					0.248553	0.25002	1	1	0
SEH1L	81929	broad.mit.edu	37	18	12951898	12951898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12951898C>A	ENST00000262124.11	+	2	283	c.156C>A	c.(154-156)agC>agA	p.S52R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S52R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	52					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTACTGCTAGCTGGAAGGTTA	0.244000													9	96					1.58986e-06	1.84011e-06	1	1	0
METTL2B	55798	broad.mit.edu	37	7	128141876	128141876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128141876G>A	ENST00000480046.1	+	8	963	c.848G>A	c.(847-849)cGc>cAc	p.R283H	METTL2B_ENST00000262432.8_Missense_Mutation_p.R348H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	348							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGTGGACCGCCGACTGCAG	0.493000													92	59					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727997	69727997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69727997G>A	ENST00000349945.1	+	14	5539	c.3987G>A	c.(3985-3987)atG>atA	p.M1329I	NFAT5_ENST00000432919.1_Missense_Mutation_p.M1423I|NFAT5_ENST00000354436.2_Missense_Mutation_p.M1405I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1329I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M1422I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M1329I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1405					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACAACATGCCTGGAATTC	0.453000													31	39					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407677	46407677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46407677C>T	ENST00000433765.2	-	1	430	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	144					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTTGGTGGTGCGCCGGGCAGG	0.582000													5	11					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105662783	105662783	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105662783C>T	ENST00000542731.1	+	14	2073	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDHR3_ENST00000478080.1_Silent_p.D567D|CDHR3_ENST00000317716.9_Silent_p.D655D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACTGATGACAACTTGATGT	0.463000													101	65					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472098	66472098	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66472098G>A	ENST00000533211.1	-	15	2980	c.2649C>T	c.(2647-2649)cgC>cgT	p.R883R	SPTBN2_ENST00000529997.1_Silent_p.R883R|SPTBN2_ENST00000309996.2_Silent_p.R883R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	883					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGTCCTCCAGGCGTTCAGGCA	0.687000													3	11					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962216	10962216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962216C>T	ENST00000240691.2	-	1	551	c.459G>A	c.(457-459)tgG>tgA	p.W153*		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	153					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGGTGATACCACATATCAT	0.378000													7	44					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418628	54418628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54418628G>A	ENST00000391767.1	+	4	505	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	98					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R98H(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627000													9	25					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380277C>T	ENST00000493196.1	-	4	630	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443000													5	88					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1518100	1518100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1518100C>T	ENST00000389470.4	-	34	5128	c.5129G>A	c.(5128-5130)cGt>cAt	p.R1710H	INTS1_ENST00000404767.3_Missense_Mutation_p.R1511H			Q8N201	INT1_HUMAN	integrator complex subunit 1	1511					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGTCCTGACGGAAGGCCAG	0.677000													26	12					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689104	60689104	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60689104A>C	ENST00000335712.6	-	4	1170	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	BCL11A_ENST00000356842.4_Missense_Mutation_p.F315V|BCL11A_ENST00000358510.4_Missense_Mutation_p.F281V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.F281V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	315	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTAGAGAAATCCATGGCG	0.612000			T	IGH@	B-CLL								11	104					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331536	70331536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70331536G>A	ENST00000338508.4	-	32	4864	c.4865C>T	c.(4864-4866)gCa>gTa	p.A1622V	SHANK2_ENST00000423696.2_Missense_Mutation_p.A1242V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1026V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1025V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1242					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATAACGTTTGCCTTTGGGCC	0.527000													30	49					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254415	155254415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155254415C>A	ENST00000368358.3	+	4	964	c.956C>A	c.(955-957)cCt>cAt	p.P319H	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	319						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCAGGCACCTGTAGGCATG	0.597000													20	34					1.22574e-08	1.47244e-08	1	1	0
GSTA5	221357	broad.mit.edu	37	6	52696717	52696717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52696717G>A	ENST00000370989.1	-	7	756	c.598C>T	c.(598-600)Cct>Tct	p.P200S	GSTA5_ENST00000284562.2_Missense_Mutation_p.P200S|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	200	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGGCTGCCAGGCTGCAGAAAC	0.498000													39	55					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2643437	2643437	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2643437C>T	ENST00000382100.2	+	5	1082	c.726C>T	c.(724-726)agC>agT	p.S242S	VLDLR_ENST00000382099.2_Silent_p.S242S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	242	LDL-receptor class A 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTCCAGCCAGCGAAATCCAGT	0.562000													13	16					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8117140	8117140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117140G>A	ENST00000305253.4	+	6	899	c.658G>A	c.(658-660)Gca>Aca	p.A220T	TUB_ENST00000534099.1_Missense_Mutation_p.A171T|TUB_ENST00000299506.2_Missense_Mutation_p.A165T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	165					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCCAGGACGCAGGGGAGAC	0.667000													7	18					0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452481	94452481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94452481G>A	ENST00000282728.5	+	3	2362	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	HHEX_ENST00000472590.2_Missense_Mutation_p.R16Q|HHEX_ENST00000492654.2_Missense_Mutation_p.R16Q	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	188					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TTTCAGAATCGACGCGCTAAA	0.478000													33	51					0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379664	133379664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133379664C>T	ENST00000517294.1	+	3	1217	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CCDC160_ENST00000370809.4_Silent_p.L278L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	278										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCGGAGAGCTCAGTGTCATCA	0.378000													5	21					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145245827	145245827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145245827C>T	ENST00000528919.1	+	7	824	c.703C>T	c.(703-705)Cga>Tga	p.R235*	MROH1_ENST00000534366.1_Nonsense_Mutation_p.R235*|MROH1_ENST00000326134.5_Nonsense_Mutation_p.R235*|MROH1_ENST00000423230.2_Nonsense_Mutation_p.R235*|MROH1_ENST00000398656.4_Nonsense_Mutation_p.R235*	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		GCTGCAGAGTCGAGAAGCCAA	0.607000													16	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771814C>T	ENST00000367255.5	-	27	3942	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1114					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTAGGTGCTGTCAATGGC	0.522000										HNSCC(10;0.0054)			104	138					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32369275	32369275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32369275C>T	ENST00000548411.1	+	2	489	c.308C>T	c.(307-309)gCt>gTt	p.A103V	BICD1_ENST00000281474.5_Missense_Mutation_p.A103V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	103					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCGAAGGAGGCTTACTATCTG	0.547000													15	32					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969326	47969326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969326G>A	ENST00000236877.6	-	2	730	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	112					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577000													23	24					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111033	81111033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81111033C>T	ENST00000228644.3	+	1	343	c.191C>T	c.(190-192)gCt>gTt	p.A64V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCAGGCTGGTCACTGC	0.647000													9	14					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108337255	108337255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108337255G>A	ENST00000263054.6	-	26	3437	c.3430C>T	c.(3430-3432)Cga>Tga	p.R1144*	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1144						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTTGCAATCGGAGAGATGAG	0.507000													27	51					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94874736	94874736	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874736C>T	ENST00000262554.2	-	2	171		c.e2+1		SPTLC1_ENST00000482632.1_Splice_Site|SPTLC1_ENST00000337841.4_Splice_Site	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1							integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAATTTCGTACCTTGACTGTA	0.348000													15	39					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827511	107827511	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107827511G>T	ENST00000317357.5	+	3	960	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	101							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TATAAGCACAGGCTATTCAGG	0.408000													17	164					3.52763e-06	4.04633e-06	1	1	0
ACKR2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42906025G>A	ENST00000422265.1	+	3	206	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A11T|ACKR2_ENST00000273145.2_Missense_Mutation_p.A11T|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2									p.A11T(1)									GCAGCCACTCGCCACTGAGGA	0.542000													17	26					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47745934	47745934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47745934C>T	ENST00000360380.3	-	13	2559	c.2196G>A	c.(2194-2196)caG>caA	p.Q732Q	STIL_ENST00000371877.3_Silent_p.Q732Q|STIL_ENST00000243182.6_Silent_p.Q732Q|STIL_ENST00000337817.5_Silent_p.Q732Q|STIL_ENST00000396221.2_Silent_p.Q732Q			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	732	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTAGTCTTAGCTGTCTGTCTT	0.428000													4	82					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289445	122289445	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122289445C>T	ENST00000296161.4	+	4	2268	c.2079C>T	c.(2077-2079)cgC>cgT	p.R693R	DTX3L_ENST00000383661.3_Silent_p.R181R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTACTCTCGCGTATTAGGAG	0.428000													6	67					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205657	100205657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100205657G>T	ENST00000223061.5	+	9	1561	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	427	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGACCAGATCCTCACCA	0.617000													25	63					2.21704e-12	2.7869e-12	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73796918	73796918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73796918G>A	ENST00000334126.7	-	21	3881	c.3655C>T	c.(3655-3657)Cgg>Tgg	p.R1219W	C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219W			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1219	C2 1.		R -> Q (in dbSNP:rs826058).			centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGGGTTCCCGTTCAGCCAAA	0.493000													9	15					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549745	167549745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549745C>T	ENST00000341935.5	+	3	579	c.27C>T	c.(25-27)agC>agT	p.S9S	CCR6_ENST00000400926.2_Silent_p.S9S|CCR6_ENST00000349984.4_Silent_p.S9S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	9					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGAATTTCAGCGATGTTTTCG	0.408000													63	103					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883349	48883349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48883349C>A	ENST00000262105.2	+	11	1922	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.C571*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGGCATCTGCTGTATCGATG	0.502000													15	24					0.000422831	0.000460248	1	1	0
WDR70	55100	broad.mit.edu	37	5	37396660	37396660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37396660G>T	ENST00000265107.4	+	5	636	c.480G>T	c.(478-480)gaG>gaT	p.E160D	WDR70_ENST00000504564.1_Missense_Mutation_p.E160D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	160	Glu-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			aagaggaagaggaggaagagg	0.373000													4	16					0.150653	0.152692	1	1	0
CHEK2P2	0	broad.mit.edu	37	15	20489431	20489431	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20489431G>T	ENST00000555186.1	+	0	419					NR_038836.1																						TGTCACTGAAGGACCAGATCA	0.418000													10	50					0.00829132	0.00869385	1	1	0
LRRC56	115399	broad.mit.edu	37	11	554168	554168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:554168C>T	ENST00000270115.7	+	14	2021	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	507			R -> G (in dbSNP:rs10902170).							kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCTCACGCCTGAGCCCTC	0.697000													5	14					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140725817	140725817	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725817C>T	ENST00000253812.6	+	1	2217	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCTCGCACTTTGTGGGCG	0.667000													26	36					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3277898	3277898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3277898G>A	ENST00000581193.1	+	4	865	c.482G>A	c.(481-483)cGc>cAc	p.R161H	MYL12B_ENST00000584539.1_Missense_Mutation_p.R161H|MYL12B_ENST00000400175.5_Missense_Mutation_p.R161H|MYL12B_ENST00000237500.5_Missense_Mutation_p.R161H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	161	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GAGTTCACACGCATCCTGAAA	0.408000													10	22					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338866	54338866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54338866G>T	ENST00000243056.3	+	2	975	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	273						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TGCAGCTGAAGGAGCTAGAGA	0.607000			T	NUP98	AML								9	96					4.68919e-08	5.58064e-08	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247492713	247492713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492713G>A	ENST00000294753.4	-	3	632	c.168C>T	c.(166-168)ccC>ccT	p.P56P	ZNF496_ENST00000366498.2_Silent_p.P56P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	56	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGCCTCCCGGGGGCCCGCCG	0.706000													4	30					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120208	114120208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114120208A>G	ENST00000357077.4	+	4	380	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ANK2_ENST00000264366.6_Silent_p.Q109Q|ANK2_ENST00000394537.3_Silent_p.Q109Q|ANK2_ENST00000506722.1_Silent_p.Q88Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	109					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGGACAAGCAGAAGTTG	0.353000													22	43					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249269	72249269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249269G>A	ENST00000441391.2	+	6	1558	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TTYH2_ENST00000269346.4_Missense_Mutation_p.A437T|TTYH2_ENST00000529107.1_Missense_Mutation_p.A416T	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	437						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TAACCCCCAAGCCTGGCGCAT	0.592000													41	78					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797335	77797335	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77797335C>T	ENST00000306735.5	+	3	345	c.207C>T	c.(205-207)taC>taT	p.Y69Y	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.Y69Y	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	69					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGGAGACTTACAAACCATCCA	0.552000													21	48					0	0	1	0	0
TRGV9	0	broad.mit.edu	37	7	38356626	38356626	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38356626A>C	ENST00000444775.2	-	0	1726																											TGCACCTCCCACAAGGCACAG	0.428000													4	49					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244756882	244756882	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244756882T>C	ENST00000366534.4	+	17	2357		c.e17+2		C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTCAACTGTAAGTATATTC	0.348000													33	30					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33703440	33703440	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33703440G>A	ENST00000374492.3	-	11	1638	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	EDEM2_ENST00000374491.2_Silent_p.S474S|EDEM2_ENST00000542871.1_Silent_p.S235S|EDEM2_ENST00000541621.1_Silent_p.S290S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	511				S -> C (in Ref. 1; BAA91806).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATTTCGACCTGCTCCGTTTGA	0.552000													16	176					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000453985.2_Silent_p.S1466S|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468000													35	49					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186062785	186062785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186062785G>A	ENST00000271588.4	+	66	10409	c.10180G>A	c.(10180-10182)Gca>Aca	p.A3394T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3394T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3394	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTTACTGGCAGCAGGACAAGT	0.433000													4	64					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214811346	214811346	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214811346T>C	ENST00000366955.3	+	11	1750		c.e11+2			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAATGAAAGGTAAGTAAACTT	0.388000													27	44					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62168629	62168629	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62168629A>C	ENST00000217185.2	-	1	66	c.39T>G	c.(37-39)taT>taG	p.Y13*	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	13	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGGCCCACATACTTGGGGC	0.701000													2	3					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25444764	25444764	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25444764A>G	ENST00000255324.5	+	32	4386	c.4334A>G	c.(4333-4335)gAc>gGc	p.D1445G	RNF17_ENST00000381921.1_Missense_Mutation_p.D1403G|RNF17_ENST00000339524.3_Missense_Mutation_p.D455G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1445					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCATAGTGACACAGATGAT	0.448000													8	61					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240951043	240951043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240951043G>T	ENST00000252711.2	-	6	840	c.740C>A	c.(739-741)cCt>cAt	p.P247H	NDUFA10_ENST00000404554.1_Missense_Mutation_p.P247H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.P277H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	247					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCTCATCTCAGGGAGAAAGGT	0.443000													21	47					7.41877e-09	8.93215e-09	1	1	0
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260357C>A	ENST00000375759.3	+	11	7826	c.7622C>A	c.(7621-7623)cCc>cAc	p.P2541H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2541	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582000													32	244					2.08457e-15	2.67432e-15	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38162272	38162272	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38162272C>T	ENST00000317025.8	-	14	2961	c.2444G>A	c.(2443-2445)cGc>cAc	p.R815H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R815H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R815H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	815					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTCATCATGCGGCCTGTTTA	0.438000			T	NUP98	AML								19	38					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841593	36841593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36841593G>A	ENST00000279024.4	-	14	3725	c.3454C>T	c.(3454-3456)Cat>Tat	p.H1152Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGCAAATGCTCGCGGGCA	0.647000													24	29					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547000													10	19					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594306	136594306	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136594306T>C	ENST00000264162.2	-	1	444	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAAAGGCTTCGGTTCTCCG	0.597000													6	39					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872425	57872425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57872425G>A	ENST00000393797.2	-	6	837	c.645C>T	c.(643-645)agC>agT	p.S215S	ARHGAP9_ENST00000424809.2_Silent_p.S144S|ARHGAP9_ENST00000550288.1_Silent_p.S223S|ARHGAP9_ENST00000356411.2_Silent_p.S144S|ARHGAP9_ENST00000393791.3_Silent_p.S144S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	144	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GATTGTCAGTGCTGACGCTCC	0.592000													9	105					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88238285	88238285	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88238285T>C	ENST00000328546.4	-	3	473	c.409A>G	c.(409-411)Att>Gtt	p.I137V	HSD17B13_ENST00000302219.6_Missense_Mutation_p.I101V	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	137						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTTGGTAATCTCTTCATCC	0.403000													11	80					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103870645	103870645	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103870645C>T	ENST00000361198.5	-	5	848	c.225G>A	c.(223-225)gaG>gaA	p.E75E	LDB1_ENST00000425280.1_Silent_p.E111E|LDB1_ENST00000490751.1_5'UTR	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	111					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTGGTCCATCCTCCAGGCAGA	0.498000													30	48					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048401	103048401	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048401T>C	ENST00000375735.2	+	38	6135	c.5991T>C	c.(5989-5991)tgT>tgC	p.C1997C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C1997C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1997	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCGCTTTGTAAAACTGGCA	0.403000													15	44					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153227081	153227081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153227081G>A	ENST00000310441.7	-	6	1782	c.816C>T	c.(814-816)ggC>ggT	p.G272G	HCFC1_ENST00000369984.4_Silent_p.G272G|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000354233.3_Silent_p.G272G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCCAGCCACCAAACA	0.547000													9	13					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853875	182853875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182853875C>T	ENST00000367549.3	+	27	3498	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1130					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTAAATGAACGTATGCTGAA	0.478000													42	50					0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39871718	39871718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39871718C>A	ENST00000329402.3	+	2	97	c.30C>A	c.(28-30)atC>atA	p.I10I	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	10						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGTGCTGATCTTTGCACTGG	0.602000													30	296					2.85442e-18	3.71821e-18	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	91030306	91030306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91030306G>A	ENST00000268182.5	+	32	4269	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R810Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1382	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGATGCTCGAACCATCTTA	0.463000													19	45					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	C	T	rs142385163	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647000													21	51					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647619	92647619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92647619C>T	ENST00000318445.6	+	4	1070	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P286S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	286					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTTTGGGTTTCCACAGTCCCT	0.607000													27	53					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9004625	9004625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9004625C>T	ENST00000344836.4	-	11	1336	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	USP7_ENST00000381886.4_Missense_Mutation_p.D364N|USP7_ENST00000535863.1_Missense_Mutation_p.D281N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	380					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAGCGTCGTATTTATTG	0.363000													29	28					0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33360916	33360916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33360916C>T	ENST00000373463.3	-	5	703	c.584G>A	c.(583-585)aGc>aAc	p.S195N	TMEM54_ENST00000329151.5_Missense_Mutation_p.S142N|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	195						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGGTGGCTGCTTTTCCC	0.627000													7	13					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20939758	20939758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20939758A>G	ENST00000298925.5	+	7	871	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	NELL1_ENST00000325319.5_Missense_Mutation_p.M155V|NELL1_ENST00000357134.5_Missense_Mutation_p.M212V|NELL1_ENST00000532434.1_Missense_Mutation_p.M212V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	212					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATCATCTTTATGCCGAATGG	0.368000													38	70					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103828795	103828795	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103828795A>T	ENST00000545943.1	-	7	817	c.192T>A	c.(190-192)ccT>ccA	p.P64P	ORC5_ENST00000447452.2_Silent_p.P196P|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000297431.4_Silent_p.P196P			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	196					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AATACTCTGGAGGATGATCAT	0.368000													6	157					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395205	10395205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10395205G>A	ENST00000264832.3	+	5	1377	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	ICAM1_ENST00000423829.2_Missense_Mutation_p.G129D|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	351	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CAGCCACTGGGCCCGAGGGCC	0.637000													29	42					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711144	38711144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38711144G>A	ENST00000246657.2	-	3	1049	c.987C>T	c.(985-987)atC>atT	p.I329I	CCR7_ENST00000579344.1_Silent_p.I323I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	329					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACTTGACGCCGATGAAGGCGT	0.597000													4	50					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97964351	97964351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964351C>T	ENST00000224337.5	-	12	980	c.839G>A	c.(838-840)cGc>cAc	p.R280H	BLNK_ENST00000427367.2_Missense_Mutation_p.R280H|BLNK_ENST00000371176.2_Missense_Mutation_p.R257H|BLNK_ENST00000413476.2_Missense_Mutation_p.R280H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	280					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCCTCGGTGGCGTTCAGCAGG	0.443000													27	50					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821798	159821798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159821798G>T	ENST00000408953.3	-	2	1207	c.700C>A	c.(700-702)Ctt>Att	p.L234I	C5orf54_ENST00000523213.1_Missense_Mutation_p.L234I	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	234										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						catacatcaagtgctatctta	0.403000													7	95					0.00307968	0.00325696	1	1	0
ACO1	48	broad.mit.edu	37	9	32408516	32408516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32408516G>A	ENST00000379923.1	+	5	477	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	ACO1_ENST00000309951.5_Missense_Mutation_p.V91M|ACO1_ENST00000541043.1_5'UTR	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	91					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCTTAGGGGTGTGCCCGCTGT	0.423000													5	70					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801488	27801488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801488G>T	ENST00000408964.2	+	1	2100	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	683										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGGGCTTCAGGCTGTGAAAT	0.413000													29	72					7.53681e-25	1.00085e-24	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50221543	50221543	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50221543G>A	ENST00000338821.5	-	27	3084	c.2820C>T	c.(2818-2820)taC>taT	p.Y940Y	ATP9A_ENST00000402822.1_Silent_p.Y819Y|ATP9A_ENST00000311637.5_Silent_p.Y804Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	940					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCGCCCCGTACATGATGG	0.612000													10	10					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118183	93118183	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93118183G>A	ENST00000216487.7	+	6	948	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.672000													18	31					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021959	197021959	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197021959A>G	ENST00000367412.1	-	9	1403	c.1360T>C	c.(1360-1362)Tgt>Cgt	p.C454R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	454	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTAACAGTACATGGTTCTGTA	0.259000													4	77					0	0	1	0	0
CKLF	51192	broad.mit.edu	37	16	66599866	66599866	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66599866C>T	ENST00000264001.4	+	4	560	c.411C>T	c.(409-411)agC>agT	p.S137S	CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000362093.4_Silent_p.S52S|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000345436.4_Silent_p.S105S|CKLF_ENST00000351137.4_Silent_p.S84S|CKLF_ENST00000532838.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCAATCCCAGCGGTCCTTACC	0.383000													26	55					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540229	169540229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540229C>T	ENST00000340806.6	+	1	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTACCTGAAGCGAAACCAGTT	0.507000													20	50					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35260154C>T	ENST00000342280.4	+	2	428	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	114					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652000													9	19					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130616	34130616	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130616C>A	ENST00000389232.4	+	89	12505	c.12435C>A	c.(12433-12435)gcC>gcA	p.A4145A	RYR3_ENST00000415757.3_Silent_p.A4140A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4145					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTATGGCCTGTGCCTCTG	0.493000													13	73					1.5739e-10	1.9432e-10	1	1	0
VWA5A	4013	broad.mit.edu	37	11	123988576	123988576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988576G>T	ENST00000456829.2	+	4	491	c.240G>T	c.(238-240)aaG>aaT	p.K80N	VWA5A_ENST00000392744.4_Missense_Mutation_p.K96N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K80N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K80N|VWA5A_ENST00000361352.5_Missense_Mutation_p.K80N|VWA5A_ENST00000392748.1_Missense_Mutation_p.K80N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	80	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TACAAGACAAGATGAAGGTAG	0.408000													7	60					5.18039e-06	5.91835e-06	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113729378	113729378	+	Missense_Mutation	SNP	G	G	A	rs145260894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729378G>A	ENST00000397030.1	+	11	1319	c.1282G>A	c.(1282-1284)Gcg>Acg	p.A428T	MCF2L_ENST00000375597.4_Missense_Mutation_p.A393T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A425T|MCF2L_ENST00000535094.2_Missense_Mutation_p.A395T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A401T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A399T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A425T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A452T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A399T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A393T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGCACTACGCGGTAGACTC	0.657000													34	65					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51641416	51641416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51641416C>T	ENST00000375695.2	+	10	2095	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	MAGED1_ENST00000375722.1_Missense_Mutation_p.R592C|MAGED1_ENST00000375772.3_Missense_Mutation_p.R592C|MAGED1_ENST00000326587.7_Missense_Mutation_p.R592C|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	592	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGGGACTGCGTCCTGGGTA	0.552000										Multiple Myeloma(10;0.10)			18	35					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374387	118374387	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118374387C>A	ENST00000534358.1	+	27	7803	c.7780C>A	c.(7780-7782)Ctt>Att	p.L2594I	KMT2A_ENST00000389506.5_Missense_Mutation_p.L2591I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2553I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTATCAGAATCTTCCAGTACA	0.498000													11	36					6.40141e-05	7.11719e-05	1	1	0
IL34	146433	broad.mit.edu	37	16	70690941	70690941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690941G>A	ENST00000429149.2	+	5	874	c.319G>A	c.(319-321)Gac>Aac	p.D107N	IL34_ENST00000566361.1_Missense_Mutation_p.D82N|IL34_ENST00000288098.2_Missense_Mutation_p.D107N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTCGGTGCAGGACGTGCTGCT	0.627000													51	90					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297234	9297234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9297234C>T	ENST00000344248.2	+	1	956	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	259					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGGGGTCCACTTCACTTCTG	0.512000													34	48					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508578	106508578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106508578G>A	ENST00000359195.3	+	2	882	c.572G>A	c.(571-573)cGc>cAc	p.R191H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGCCAGCCGCGACCCCAAG	0.607000													16	47					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16385459	16385459	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16385459C>T	ENST00000354981.2	-	17	1940	c.1784_splice	c.e17+1	p.G595_splice	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Splice_Site_p.G595_splice|KIF16B_ENST00000355755.3_Splice_Site_p.G595_splice	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	595					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCACTCACCCGGGGTTATAC	0.473000													4	25					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229596379	229596379	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229596379A>G	ENST00000261396.3	-	20	2914	c.2823T>C	c.(2821-2823)atT>atC	p.I941I	NUP133_ENST00000537506.1_Silent_p.I925I|NUP133_ENST00000366679.1_Silent_p.I870I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	941					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGCTATTAATTTCATGTA	0.328000													4	75					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129788527	129788527	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788527C>A	ENST00000358825.5	-	15	2364	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N	PRDM10_ENST00000304538.6_Missense_Mutation_p.K621N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K707N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K625N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K625N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K681N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTTGAACGTCTTGGAGCGGC	0.567000													7	232					2.74318e-10	3.37541e-10	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29162553	29162553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29162553C>T	ENST00000321990.4	+	2	1832	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	485					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATAAGAAAACATTAGATACT	0.308000													16	39					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465683	41465683	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41465683C>A	ENST00000400454.1	-	21	4292	c.3815G>T	c.(3814-3816)aGc>aTc	p.S1272I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1272	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTCACTGCTGTTGCCTCT	0.473000													7	9					0.0293803	0.0301098	1	1	0
GCSAML	148823	broad.mit.edu	37	1	247737603	247737603	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247737603A>G	ENST00000366491.2	+	7	764	c.267A>G	c.(265-267)gaA>gaG	p.E89E	GCSAML_ENST00000527541.1_Silent_p.E77E|GCSAML_ENST00000463359.1_Silent_p.E77E|GCSAML_ENST00000366488.4_Silent_p.E109E|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.E89E|GCSAML_ENST00000527084.1_Silent_p.E77E|GCSAML_ENST00000366489.1_Silent_p.E89E					germinal center-associated, signaling and motility-like																		CAGAGACAGAATATGCCCTTC	0.443000													7	79					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657702	52657702	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52657702G>A	ENST00000334575.5	-	6	653	c.498C>T	c.(496-498)taC>taT	p.Y166Y	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	166	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527000													44	70					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217973	97217973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97217973G>A	ENST00000454558.2	+	7	2681	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	ARID5A_ENST00000357485.3_Missense_Mutation_p.A570T			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTTGCCCGGCCTCATCTGC	0.637000													24	37					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163952	4163952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4163952C>T	ENST00000294016.3	-	2	2030	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	498	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCAGGATGCCGCAAAGGACG	0.562000													53	84					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47707455	47707455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707455G>A	ENST00000525123.1	-	11	2063	c.1778C>T	c.(1777-1779)gCa>gTa	p.A593V	AGBL2_ENST00000528244.1_Missense_Mutation_p.A555V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.A593V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A593V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	593					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTTATCTGGTGCATTTTTGCA	0.358000													59	99					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37450453	37450453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37450453G>A	ENST00000234170.5	-	3	1886	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	581					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCACCCGGCGCAACACAATG	0.418000													30	58					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50530983	50530983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530983G>T	ENST00000444124.2	-	14	1589	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	DDC_ENST00000426377.1_Silent_p.A385A|DDC_ENST00000431062.1_Silent_p.A370A|DDC_ENST00000357936.5_Silent_p.A463A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	463					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTGTTCCCAGGCCCGCTGCA	0.577000													13	12					1.49906e-05	1.69169e-05	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27277665	27277665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27277665C>T	ENST00000360131.4	+	5	878	c.719C>T	c.(718-720)gCa>gTa	p.A240V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A240V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	240					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGTTTCGCAGGCAAGAGG	0.488000													11	86					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133298	38133298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133298C>T	ENST00000301659.4	+	12	1443	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	442					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGCAGCTTACCAAGGCCTCC	0.542000													36	46					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302635	37302635	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37302635A>G	ENST00000233099.5	-	5	685	c.590T>C	c.(589-591)gTg>gCg	p.V197A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V197A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	197							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACCTTGGCCACTGCACATCG	0.398000													13	126					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197430514	197430514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197430514G>T	ENST00000273582.5	-	5	840	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	KIAA0226_ENST00000296343.5_Missense_Mutation_p.L159M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.L159M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.L159M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	159	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTTAGCAGGAAGGCAGCA	0.562000													3	20					1	1	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63445176	63445176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63445176G>T	ENST00000453546.1	-	10	1569	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	ASB12_ENST00000396130.2_Missense_Mutation_p.L110M|ASB12_ENST00000362002.2_Missense_Mutation_p.L119M			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	310	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGTCCAGATGGCCATGA	0.532000													11	7					4.68919e-08	5.58064e-08	1	1	0
LMO7	4008	broad.mit.edu	37	13	76409325	76409325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATTTATACGGCATAAAACCC	0.388000													12	22					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258831	61258831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258831G>T	ENST00000295030.4	+	2	408	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	124					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCAAGCTGAAGAAAGCAGCAG	0.448000													8	99					1.12685e-05	1.27857e-05	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204457	9204457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204457C>T	ENST00000429566.3	+	1	603	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTACTTCTGCGACCTCACTC	0.562000													31	53					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73951967	73951967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951967A>G	ENST00000537812.1	-	5	1134	c.486T>C	c.(484-486)taT>taC	p.Y162Y	ACOX1_ENST00000301608.4_Silent_p.Y200Y|ACOX1_ENST00000293217.5_Silent_p.Y200Y|ACOX1_ENST00000591857.1_5'UTR	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	200					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CATGTAATCCATAGCATTTCC	0.423000													18	208					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14770771	14770771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14770771T>C	ENST00000380881.4	-	27	5709	c.4894A>G	c.(4894-4896)Aca>Gca	p.T1632A	FREM1_ENST00000422223.2_Missense_Mutation_p.T1631A|FREM1_ENST00000380880.3_Missense_Mutation_p.T1631A|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.T167A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1631					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCAAGAGTGTGATACGAGGA	0.493000													11	16					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017457	101017457	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101017457A>C	ENST00000537247.1	+	10	1516	c.562A>C	c.(562-564)Att>Ctt	p.I188L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.I292L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.I292L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.I292L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	292					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAACAAAAAATTTTAGCATT	0.403000													4	70					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122693109	122693109	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122693109G>T	ENST00000464942.2	-	5	1773	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	DIABLO_ENST00000353548.6_Missense_Mutation_p.S136Y|B3GNT4_ENST00000545141.1_3'UTR|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.S180Y|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.S127Y|DIABLO_ENST00000413918.1_Missense_Mutation_p.S136Y	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	180					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGGTTATAGAGGCCTGATC	0.582000													11	14					1.61879e-10	1.99744e-10	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54917615	54917615	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54917615C>T	ENST00000293373.6	+	20	2110	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	NCKAP1L_ENST00000545638.2_Silent_p.D627D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	677					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTAGCATGGACAAGCTACACC	0.458000													6	64					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11505135	11505135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11505135G>T	ENST00000380456.3	-	19	2139	c.2076C>A	c.(2074-2076)gaC>gaA	p.D692E	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.D698E	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	692	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCAGCATGAAGTCTCTGGGGG	0.572000													13	30					1.37285e-15	1.76283e-15	1	1	0
PYGB	5834	broad.mit.edu	37	20	25228967	25228967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25228967C>T	ENST00000216962.4	+	1	263	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	51					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CGCCCCGCGACTACTTCTTCG	0.682000													7	5					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155466	49155466	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49155466A>G	ENST00000453664.1	-	3	530	c.212T>C	c.(211-213)aTc>aCc	p.I71T	USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398892.3_Intron|USP19_ENST00000417901.1_Missense_Mutation_p.I71T|USP19_ENST00000398888.2_Missense_Mutation_p.I71T|USP19_ENST00000434032.2_Missense_Mutation_p.I71T|USP19_ENST00000398898.2_Intron	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	71					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgagcctgtgatcccagctgc	0.537000													10	25					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155154476	155154476	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155154476G>A	ENST00000461783.3	+	0	646				SCAF8_ENST00000367186.4_Missense_Mutation_p.A1321T|SCAF8_ENST00000367178.3_Missense_Mutation_p.A1255T|SCAF8_ENST00000417268.1_Missense_Mutation_p.A1255T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGACACAGTTGCTGATATAGA	0.383000													17	31					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477090	21477090	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21477090A>G	ENST00000356929.3	-	4	875	c.678T>C	c.(676-678)tgT>tgC	p.C226C		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACATTCTTCACATTTGTAGG	0.348000													11	14					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382974	109382974	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109382974C>T	ENST00000283195.6	+	20	6105	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1993					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.S1993S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAACACTTCCGGTGACTTTG	0.388000													7	329					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158579	40158579	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40158579T>C	ENST00000280871.4	-	8	1577	c.1527A>G	c.(1525-1527)gcA>gcG	p.A509A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	509						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGCCCAGAAGTGCAGTCCAGG	0.348000										HNSCC(50;0.14)			10	59					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133750263C>A	ENST00000318560.5	+	7	1475	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	365	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGAGATCTTGCTGCCCGAAAC	0.517000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								6	81					2.0095e-06	2.31757e-06	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29585240	29585240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29585240G>A	ENST00000373779.3	+	3	558	c.429G>A	c.(427-429)tgG>tgA	p.W143*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.W143*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.W143*	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	143	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCGTCAGTGGCACCAGGCTG	0.642000													30	35					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480831	27480831	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27480831C>A	ENST00000356183.4	-	32	4870	c.4855G>T	c.(4855-4857)Gag>Tag	p.E1619*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1619*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1619	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAGTCATCCTCTTCATCCTCG	0.577000													4	75					1	1	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113514618	113514618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113514618G>A	ENST00000487903.1	+	24	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_ENST00000375630.2_Silent_p.A915A|ATP11A_ENST00000283558.8_Silent_p.A915A|ATP11A_ENST00000375645.3_Silent_p.A915A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	915					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453000													13	82					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189077	11189077	+	Silent	SNP	C	C	T	rs143735406	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11189077C>T	ENST00000382435.4	+	1	681	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	154	DUF6 1.					integral to membrane											GCCAGGGTCTCGGTGGCTACG	0.587000													73	105					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559886	178559886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178559886C>T	ENST00000251582.7	-	14	2202	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	701	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGATCACACCGTCACAGCCC	0.582000													6	12					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33449298	33449298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33449298C>T	ENST00000336431.5	-	4	669	c.625G>A	c.(625-627)Gca>Aca	p.A209T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCCTGGTGCGGACTCCCGG	0.562000													17	27					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239238	104239238	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104239238A>G	ENST00000374851.1	-	4	1284	c.137T>C	c.(136-138)cTt>cCt	p.L46P	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.L46P|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L46P			Q9BRR3	CI125_HUMAN	transmembrane protein 246	46						integral to membrane											AGAGTGTAGAAGTCGGTGACA	0.572000													7	50					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615643	105615643	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105615643A>G	ENST00000331782.3	-	13	2020	c.1617T>C	c.(1615-1617)ctT>ctC	p.L539L	JAG2_ENST00000347004.2_Silent_p.L501L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	539	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGGCTCACAAAGGTCGACAT	0.622000													6	79					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345338	53345338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53345338T>C	ENST00000595646.1	-	4	329	c.209A>G	c.(208-210)cAc>cGc	p.H70R	ZNF468_ENST00000390651.4_Missense_Mutation_p.H17R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H17R|ZNF468_ENST00000243639.4_Silent_p.P109P|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCCCTGTGTGGATCACTTC	0.388000													10	138					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639226	149639226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149639226G>A	ENST00000370401.2	+	4	1691	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	461					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572000													31	80					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45227592	45227592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45227592C>T	ENST00000372217.1	+	16	1877	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A450V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A522V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372224.4_Missense_Mutation_p.A563V			Q99661	KIF2C_HUMAN	kinesin family member 2C	563	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTGCAGATTGCCACGATCTCA	0.507000													23	65					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40121734	40121734	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40121734T>C	ENST00000261435.6	+	9	2419	c.2003T>C	c.(2002-2004)aTg>aCg	p.M668T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	668						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGTGATATGAATCCTAGC	0.338000													7	85					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053709	135053709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135053709G>A	ENST00000325980.9	+	3	1187	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCAGCCTCTGGCGTCCCACCC	0.692000													7	9					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535435	16535435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535435C>T	ENST00000270747.3	-	2	251	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.A39T	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	39					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCAGGGCGGGCAGCTCT	0.677000													5	17					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	197620	197620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:197620C>T	ENST00000261601.6	+	8	690	c.599C>T	c.(598-600)gCt>gTt	p.A200V	USP14_ENST00000582707.1_Missense_Mutation_p.A165V|USP14_ENST00000383589.2_Missense_Mutation_p.A154V|USP14_ENST00000400266.3_Missense_Mutation_p.A189V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	200					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACAGGATGCTAATGAATGT	0.333000													14	40					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1685602	1685602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1685602G>A	ENST00000344463.4	-	12	1645	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	NADK_ENST00000342348.5_Missense_Mutation_p.A298V|NADK_ENST00000341991.3_Missense_Mutation_p.A330V|NADK_ENST00000341426.5_Missense_Mutation_p.A330V|NADK_ENST00000378625.1_Missense_Mutation_p.A475V			O95544	NADK_HUMAN	NAD kinase	330					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCCCGGCCGCGGCCGCATA	0.716000													6	67					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21304088	21304088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21304088G>A	ENST00000354336.3	+	3	1376	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	289	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCCCTTTACGCACGTCAAAA	0.478000													11	224					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286229	123286229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123286229C>A	ENST00000253079.6	+	9	1880	c.1536C>A	c.(1534-1536)gaC>gaA	p.D512E	CCDC62_ENST00000537566.1_Missense_Mutation_p.D273E|CCDC62_ENST00000392441.4_Missense_Mutation_p.D512E|CCDC62_ENST00000392440.2_Missense_Mutation_p.D273E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	512						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCATGTGTGACTCCAAGTGCT	0.473000													35	71					4.11147e-13	5.20562e-13	1	1	0
SNX15	29907	broad.mit.edu	37	11	64799950	64799950	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64799950C>T	ENST00000377244.3	+	3	313	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	61	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCATGGAGACCTGGCCTACA	0.622000													17	22					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834222	101834222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834222C>A	ENST00000263468.8	+	6	2726	c.2456C>A	c.(2455-2457)tCt>tAt	p.S819Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S620Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	819							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATACAAGTGTCTCAGTGTCAA	0.328000													9	61					2.17888e-05	2.45068e-05	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86210352	86210352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86210352C>A	ENST00000370571.2	-	57	5035	c.4669G>T	c.(4669-4671)Gat>Tat	p.D1557Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AACTTACCATCTGATACTTTT	0.363000													11	124					0.0135373	0.0140872	1	1	0
MICA	100507436	broad.mit.edu	37	6	31378368	31378368	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31378368C>A	ENST00000449934.2	+	2	173	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	40					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGGGATGGATCTGTGCAGTCA	0.532000													12	18					9.31168e-06	1.06029e-05	1	1	0
TMEM106B	54664	broad.mit.edu	37	7	12271476	12271476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12271476A>G	ENST00000396667.2	+	9	1022	c.700A>G	c.(700-702)Aca>Gca	p.T234A	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T234A	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	234						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TACTGTGACAACAACATACTT	0.343000													12	57					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252614	208252614	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208252614T>G	ENST00000367033.3	-	12	3334	c.2577A>C	c.(2575-2577)caA>caC	p.Q859H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	859	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGGTGATTTGAGGGTTGG	0.597000													6	43					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39406359C>T	ENST00000378803.1	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378000													39	81					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66617327	66617327	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66617327G>A	ENST00000393960.1	-	21	3183	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	PC_ENST00000393955.2_Silent_p.L968L|PC_ENST00000393958.2_Silent_p.L968L|PC_ENST00000529047.1_Silent_p.L88L|PC_ENST00000528224.1_5'UTR	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	968					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGTCCTTCAGTACCTGGGGA	0.637000													4	63					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19951529	19951529	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19951529C>T	ENST00000255006.6	+	7	880	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	195					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCAACAGCCAAGTCGGAG	0.438000													7	20					0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390746	51390746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51390746C>T	ENST00000394904.3	-	9	821	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	SLC11A2_ENST00000262051.7_Missense_Mutation_p.V229M|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V258M|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V229M|SLC11A2_ENST00000547198.1_Missense_Mutation_p.V229M|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V225M|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V229M|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V150M	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	229					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGGTTTCACTGTAACATAC	0.483000													4	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021062	9021062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9021062G>A	ENST00000397910.4	-	19	37464	c.37261C>T	c.(37261-37263)Cag>Tag	p.Q12421*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGACCCTGCAGGACCCTC	0.547000													8	92					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132448119	132448119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132448119G>A	ENST00000333577.4	+	3	1487	c.1378G>A	c.(1378-1380)Gtt>Att	p.V460I	EP400_ENST00000332482.4_Intron|EP400_ENST00000389561.2_Intron|EP400_ENST00000389562.2_Intron|EP400_ENST00000330386.6_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	460					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGACTCCCGTTGCTATAGC	0.423000													10	19					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45719377	45719377	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45719377C>T	ENST00000297323.7	+	11	1990	c.1968C>T	c.(1966-1968)caC>caT	p.H656H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	656					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTACCTGCACATCACCCGGG	0.542000													45	36					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094301	56094301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56094301G>A	ENST00000426658.2	-	3	1548	c.887C>T	c.(886-888)aCg>aTg	p.T296M	CTCFL_ENST00000429804.2_Missense_Mutation_p.T296M|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.T296M|CTCFL_ENST00000371196.2_Missense_Mutation_p.T296M|CTCFL_ENST00000422869.2_Missense_Mutation_p.T296M|CTCFL_ENST00000422109.2_Missense_Mutation_p.T296M|CTCFL_ENST00000243914.3_Missense_Mutation_p.T296M|CTCFL_ENST00000539382.1_Missense_Mutation_p.T91M|CTCFL_ENST00000502686.2_Missense_Mutation_p.T34M|CTCFL_ENST00000433949.2_Missense_Mutation_p.T296M|CTCFL_ENST00000432255.2_Missense_Mutation_p.T296M			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	296					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGAGTGACCGTACGGAAGGT	0.453000													40	56					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141404	8141404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8141404C>T	ENST00000315684.8	-	4	599	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	198					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATAGGCGTGACGGGGCCAGGA	0.587000													28	46					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28872387	28872387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28872387T>C	ENST00000375664.3	+	4	808	c.199T>C	c.(199-201)Tca>Cca	p.S67P	WAC_ENST00000347934.4_Missense_Mutation_p.S112P|WAC_ENST00000375646.1_Missense_Mutation_p.S67P|WAC_ENST00000354911.4_Missense_Mutation_p.S112P|WAC_ENST00000428935.1_Missense_Mutation_p.S67P			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	112					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAGTTCAAATTCACATTCTTC	0.318000													57	106					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21516748	21516748	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21516748C>A	ENST00000222584.3	+	4	1948	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	577					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACTATAGCTCCTGTAACTGTA	0.423000													5	56					0.014758	0.0152625	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151917719	151917719	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151917719T>G	ENST00000355193.2	-	23	3819	c.3601A>C	c.(3601-3603)Aaa>Caa	p.K1201Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.K1201Q					lysine (K)-specific methyltransferase 2C																		AATTTTGGTTTTGACCGTTTT	0.443000													43	47					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36221323	36221323	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36221323C>A	ENST00000420124.1	+	24	5157	c.5157C>A	c.(5155-5157)ttC>ttA	p.F1719L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.F1719L																							AGCGGAAGTTCTTGACGGGGC	0.562000													26	223					3.73148e-12	4.68205e-12	1	1	0
MIER2	54531	broad.mit.edu	37	19	327978	327978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:327978C>T	ENST00000264819.4	-	4	265	c.255G>A	c.(253-255)atG>atA	p.M85I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAGGGCATGTCGTTGC	0.617000													4	14					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649611	150649611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150649611C>T	ENST00000392968.2	-	4	2291	c.1171G>A	c.(1171-1173)Ggc>Agc	p.G391S	KCNH2_ENST00000262186.5_Missense_Mutation_p.G487S|KCNH2_ENST00000330883.4_Missense_Mutation_p.G147S|KCNH2_ENST00000430723.3_Missense_Mutation_p.G487S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	487					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGATGCGGCCGGGGTGGCTG	0.587000													11	56					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100445677	100445677	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100445677G>T	ENST00000514652.1	+	4	691		c.e4-1		C4orf17_ENST00000326581.4_Splice_Site|C4orf17_ENST00000503257.1_Splice_Site			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTTTATTTCAGAGCCCAGTAG	0.289000													13	29					0.000151284	0.000166931	1	1	0
DDRGK1	65992	broad.mit.edu	37	20	3171368	3171368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3171368G>A	ENST00000354488.3	-	9	933	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	292						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGGCAAGCTCGGCGATGGACA	0.642000													21	20					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978450	10978450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978450G>A	ENST00000240619.2	-	1	507	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	140					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATTAAGTAACGATGAAATAAG	0.308000													17	30					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514513	34514513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514513C>T	ENST00000242317.4	+	17	1862	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	564					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGACTGGACAGTGAAGATC	0.587000									Kartagener syndrome				6	97					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51245488	51245488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51245488G>A	ENST00000245441.5	-	6	660	c.470C>T	c.(469-471)gCg>gTg	p.A157V	NIN_ENST00000453196.1_Missense_Mutation_p.A157V|NIN_ENST00000389868.3_Missense_Mutation_p.A157V|NIN_ENST00000382043.4_Missense_Mutation_p.A157V|NIN_ENST00000324330.9_Missense_Mutation_p.A157V|NIN_ENST00000530997.2_Missense_Mutation_p.A157V|NIN_ENST00000382041.3_Missense_Mutation_p.A157V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	157					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTACCTTCCGCTTCATACTC	0.522000			T	PDGFRB	MPD								43	56					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42955844	42955844	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42955844A>C	ENST00000541208.1	+	5	648	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF662_ENST00000440367.2_Missense_Mutation_p.E93D|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E119D|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGAAAGAAGATTTTATTC	0.423000													37	41					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47497276	47497276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497276C>T	ENST00000247161.3	-	4	1059	c.960G>A	c.(958-960)gaG>gaA	p.E320E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.E320E|ELK1_ENST00000592066.1_Silent_p.E266E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	320					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGTGGAAGCTCTAGGTCCC	0.721000													4	4					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365589	77365589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77365589C>A	ENST00000451710.3	-	30	5285	c.5048G>T	c.(5047-5049)aGg>aTg	p.R1683M	TRPM6_ENST00000376871.3_Missense_Mutation_p.R516M|TRPM6_ENST00000376872.3_Missense_Mutation_p.R634M|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1678M|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1683M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1678M|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1683M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1683					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGAGTTCCTATTGAGGTT	0.418000													31	50					3.90053e-15	4.99885e-15	1	1	0
USP9X	8239	broad.mit.edu	37	X	41025363	41025363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41025363C>T	ENST00000324545.7	+	16	2857	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R742*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	742					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGTTTTGAGCGATTCTTCAA	0.363000													38	73					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39524384	39524384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39524384T>C	ENST00000537403.1	-	10	2218	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	SEC23A_ENST00000545328.2_Missense_Mutation_p.D512G|SEC23A_ENST00000536508.1_Missense_Mutation_p.D415G|SEC23A_ENST00000307712.6_Missense_Mutation_p.D541G			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	541					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTAAGCACATCTGGACCTTC	0.418000													10	95					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265689	10265689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265689C>T	ENST00000340748.4	-	19	1723	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	DNMT1_ENST00000540357.1_Silent_p.A496A|DNMT1_ENST00000359526.4_Silent_p.A512A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	496	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAAATATGGGCGCATACTCGG	0.517000													22	44					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21015896	21015896	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21015896C>T	ENST00000495827.1	-	4	429		c.e4+1		PTPLAD2_ENST00000513293.2_Splice_Site|PTPLAD2_ENST00000488436.1_5'UTR	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCCTTCTTACCTAACCATAT	0.378000													9	74					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53304598G>T	ENST00000438150.2	-	2	1234	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	ZNF28_ENST00000457749.2_Missense_Mutation_p.S167Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.S114Y			P17035	ZNF28_HUMAN	zinc finger protein 28	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368000													55	172					7.89702e-26	1.05124e-25	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101601435	101601435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101601435C>A	ENST00000284395.5	+	31	5130	c.4730C>A	c.(4729-4731)cCt>cAt	p.P1577H	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.P1580H			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1580					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGCTGCCCTGGGATGAAG	0.617000													4	29					0.184627	0.186383	1	1	0
BCAS2	10286	broad.mit.edu	37	1	115118260	115118260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115118260G>T	ENST00000369541.3	-	4	417	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	124					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGTTCCAGATTCTCAATT	0.368000													5	103					3.59834e-05	4.01776e-05	1	1	0
COL27A1	85301	broad.mit.edu	37	9	116931679	116931679	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116931679C>T	ENST00000356083.3	+	3	2235	c.1844C>T	c.(1843-1845)gCa>gTa	p.A615V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	615	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCCACCTGGCAGGATCTACG	0.642000													4	69					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458769	78458769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78458769C>A	ENST00000566780.1	+	7	974	c.608C>A	c.(607-609)cCt>cAt	p.P203H	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P203H|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	203	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTTCAGGCCTCTTCATGTG	0.463000													21	496					1.22574e-08	1.47244e-08	1	1	0
FAM73B	84895	broad.mit.edu	37	9	131823542	131823542	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131823542G>A	ENST00000358369.4	+	9	1153	c.927G>A	c.(925-927)ccG>ccA	p.P309P	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_Silent_p.P309P	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	309						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GAGATTACCCGATCCCACTCT	0.642000											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	5					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237282	30237282	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30237282C>A	ENST00000378988.4	+	2	686	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	195	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGCTCAGTTCCTGGGACTTTC	0.483000													8	17					0.000442599	0.00048047	1	1	0
EPN2	22905	broad.mit.edu	37	17	19232897	19232897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19232897C>A	ENST00000314728.5	+	9	1832	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	EPN2_ENST00000575595.1_Missense_Mutation_p.L158M|EPN2_ENST00000571254.1_Missense_Mutation_p.L386M|EPN2_ENST00000395620.2_Missense_Mutation_p.L393M|EPN2_ENST00000395626.1_Missense_Mutation_p.L450M|EPN2_ENST00000347697.2_Missense_Mutation_p.L393M|EPN2_ENST00000395618.3_Missense_Mutation_p.L165M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	450	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCAGTAATCTGAATGGTAC	0.458000													5	110					0.014758	0.0152625	1	1	0
MYH8	4626	broad.mit.edu	37	17	10304604	10304604	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10304604C>G	ENST00000403437.2	-	24	3190	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1032					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCACTTGCTGTTCTAGCT	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	108					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760527	186760527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186760527C>A	ENST00000169298.3	+	4	710	c.36C>A	c.(34-36)tgC>tgA	p.C12*	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.C12*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	12					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGTTCAGCTGCTGCGTCCTGG	0.403000													32	210					4.4194e-11	5.49217e-11	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61291876	61291876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61291876C>T	ENST00000217159.1	+	4	1205	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q334*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	334					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTACCCTCGGCAGCTGCCAGG	0.637000													39	35					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55652430	55652430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55652430G>A	ENST00000310958.6	-	8	1839	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	CCPG1_ENST00000569205.1_Missense_Mutation_p.A514V|CCPG1_ENST00000442196.3_Missense_Mutation_p.A514V|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	514					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGCTTCTTTAGCCTGCTTAAT	0.333000													19	200					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399325	107399325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399325C>T	ENST00000440859.2	+	6	1645	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	CBLL1_ENST00000222597.2_Missense_Mutation_p.A392V	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	393	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CATATTATTGCCCAGATGCCA	0.532000													61	168					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989494	134989494	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134989494C>A	ENST00000535938.1	+	9	1067	c.900C>A	c.(898-900)gtC>gtA	p.V300V	SAGE1_ENST00000370709.3_Silent_p.V300V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.V300V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	300										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCACAATGTCTGTGAAGAGA	0.438000													6	124					2.0095e-06	2.31757e-06	1	1	0
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3939117G>A	ENST00000427057.2	-	0	333				PARP11_ENST00000228820.4_Missense_Mutation_p.T29M|PARP11_ENST00000447133.3_De_novo_Start_OutOfFrame|PARP11_ENST00000397096.2_Missense_Mutation_p.T22M			Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11								NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413000													4	58					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373000													39	51					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35051220	35051220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35051220C>T	ENST00000360359.3	+	20	3072	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	978	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAAGATCCCCACCATCA	0.547000													14	37					0	0	1	0	0
COX17	10063	broad.mit.edu	37	3	119394034	119394034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119394034G>T	ENST00000261070.2	-	2	246	c.154C>A	c.(154-156)Cac>Aac	p.H52N	COX17_ENST00000484810.1_Missense_Mutation_p.H87N|COX17_ENST00000497116.1_Missense_Mutation_p.H52N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	52					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CATTCCTTGTGGGCCTCAATT	0.343000													12	74					4.93089e-13	6.23885e-13	1	1	0
NMD3	51068	broad.mit.edu	37	3	160945126	160945126	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160945126A>C	ENST00000460469.1	+	3	726	c.271A>C	c.(271-273)Agt>Cgt	p.S91R	NMD3_ENST00000472947.1_Missense_Mutation_p.S91R|NMD3_ENST00000351193.2_Missense_Mutation_p.S91R|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	91					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGCCCCTCTGAGTAAGGTAAG	0.348000													21	41					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42740426	42740426	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42740426G>T	ENST00000263805.4	-	3	3236	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	ZNF106_ENST00000565611.1_Silent_p.S155S|ZNF106_ENST00000565380.1_Silent_p.S198S	NM_022473.1	NP_071918.1			zinc finger protein 106																		TACTCTCCTGGGAATTCTGAT	0.473000													11	139					0.0809354	0.0825713	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117100139	117100139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117100139C>T	ENST00000320934.3	-	3	1052	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGACGCTGCGCTTGGCCCG	0.617000			T	IGH@	MLCLS								18	127					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125618095	125618095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125618095C>T	ENST00000373670.1	-	13	3117	c.2517G>A	c.(2515-2517)tgG>tgA	p.W839*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.W839*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.W839*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	839						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCACAAGACCAGGGAGAAT	0.368000													32	47					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175301145	175301145	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301145C>A	ENST00000392552.2	-	16	2551		c.e16-1		GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000392551.2_Splice_Site|GPR155_ENST00000459996.1_Splice_Site	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155						intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCACCACACCTGTGTCAAAG	0.458000													16	33					4.75885e-15	6.09718e-15	1	1	0
SLC7A4	6545	broad.mit.edu	37	22	21385780	21385780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21385780C>T	ENST00000382932.2	-	2	389	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V108I|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	108					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCATGGATACGTAGGTGAAC	0.627000													11	20					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813930	60813930	+	Silent	SNP	G	G	T	rs147951735	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60813930G>T	ENST00000544856.2	-	7	1674	c.1296C>A	c.(1294-1296)acC>acA	p.T432T	MARCH10_ENST00000311269.5_Silent_p.T433T|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T433T|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.T471T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	433							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGAATCATGGGTGCCAGGCC	0.418000													6	107					0.0293803	0.0301098	1	1	0
DNAAF1	123872	broad.mit.edu	37	16	84188402	84188402	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84188402C>A	ENST00000378553.5	+	4	697	c.574_splice	c.e4+1	p.L191_splice	DNAAF1_ENST00000334315.5_Splice_Site_p.L191_splice	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	191					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAAAACCTCTGTAAGGGTA	0.438000													6	70					0.217242	0.218821	1	1	0
DENND6A	201627	broad.mit.edu	37	3	57613950	57613950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57613950G>A	ENST00000311128.5	-	20	1888	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G		NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		ATCATGTCATGCCCGTTTTGA	0.433000													5	85					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36353755	36353755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36353755G>A	ENST00000312412.4	-	10	1105	c.1106C>T	c.(1105-1107)aCt>aTt	p.T369I	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.T214I|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						CCAAAGATGAGTCCACCATTC	0.353000													5	117					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47603166C>A	ENST00000371891.3	+	1	40	c.9C>A	c.(7-9)gtC>gtA	p.V3V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.V3V|CYP4A22_ENST00000371890.3_Silent_p.V3V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	3						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602000													37	58					1.30998e-17	1.70068e-17	1	1	0
NOB1	28987	broad.mit.edu	37	16	69786169	69786169	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69786169G>T	ENST00000268802.5	-	3	331	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	101	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTAGGTGAGACACCCCAAC	0.433000													34	121					2.20474e-14	2.81294e-14	1	1	0
EHF	26298	broad.mit.edu	37	11	34680413	34680413	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34680413G>T	ENST00000257831.3	+	9	959	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	EHF_ENST00000531794.1_Missense_Mutation_p.D302Y|EHF_ENST00000533754.1_Missense_Mutation_p.D280Y|EHF_ENST00000450654.2_Missense_Mutation_p.D257Y|EHF_ENST00000530286.1_Missense_Mutation_p.D280Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	280					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGCGTGTGGATGGACGAAG	0.408000													5	56					0.248553	0.25002	1	1	0
RAB11FIP3	9727	broad.mit.edu	37	16	560783	560783	+	Silent	SNP	C	C	T	rs143343068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:560783C>T	ENST00000262305.4	+	9	2011	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RAB11FIP3_ENST00000450428.1_Silent_p.I245I|RAB11FIP3_ENST00000457159.1_Silent_p.I586I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	541	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCATTGAGATCGAGAACCTGC	0.612000													9	12					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78866640	78866640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866640C>A	ENST00000306801.3	+	19	2575	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	738					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.S738Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAACAAATCTTTGCAGAAC	0.498000													5	68					5.9392e-07	6.91975e-07	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114133192	114133192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114133192A>G	ENST00000369615.1	+	5	912	c.850A>G	c.(850-852)Aat>Gat	p.N284D	MAGI3_ENST00000369617.4_Missense_Mutation_p.N284D|MAGI3_ENST00000307546.9_Missense_Mutation_p.N284D|MAGI3_ENST00000369611.4_Missense_Mutation_p.N284D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	284	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGACTTTAGAAATTATATGAT	0.413000													13	70					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35457900	35457900	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457900T>C	ENST00000357182.4	-	15	2308	c.2081A>G	c.(2080-2082)aAa>aGa	p.K694R	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K694R|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K694R	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	694					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTGACGGGTTTGCATGATAT	0.433000													11	104					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158464356	158464356	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158464356C>T	ENST00000355585.4	+	5	795	c.720C>T	c.(718-720)taC>taT	p.Y240Y	SYNJ2_ENST00000449859.2_Silent_p.Y189Y|SYNJ2_ENST00000367122.2_Silent_p.Y240Y|SYNJ2_ENST00000367121.3_Silent_p.Y240Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	240	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGATGATTTACATGGACGATG	0.502000													4	29					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73770789	73770789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770789G>A	ENST00000223398.6	+	5	1180	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	CLIP2_ENST00000361545.5_Missense_Mutation_p.V285M|CLIP2_ENST00000395060.1_Missense_Mutation_p.V285M	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	285						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACAAAGTGATCCGTAT	0.587000													9	94					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783532	8783532	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8783532A>G	ENST00000359865.3	+	6	564	c.422A>G	c.(421-423)gAc>gGc	p.D141G	SOGA2_ENST00000400050.3_Missense_Mutation_p.D141G|SOGA2_ENST00000306329.11_Missense_Mutation_p.D501G|SOGA2_ENST00000517570.1_Missense_Mutation_p.D141G|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	492																	TGGCAGGATGACAGTGCCGAT	0.522000													5	7					0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11249979	11249979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11249979C>T	ENST00000376819.3	+	1	582	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	115					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGCAGCTGCAGGCAGCACA	0.562000													21	21					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52242105	52242105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52242105G>A	ENST00000299601.5	-	10	1758	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	LEO1_ENST00000315141.5_Silent_p.S506S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GGTAACTGGCGCTCAGCCCCC	0.517000													19	42					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154200010	154200010	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200010G>A	ENST00000326080.5	-	9	1291	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	FAXDC2_ENST00000517938.1_Silent_p.L267L	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		AGCACACCCAGCACCCCATAG	0.577000													22	39					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65308798	65308798	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65308798T>G	ENST00000220058.4	-	6	802	c.789A>C	c.(787-789)agA>agC	p.R263S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	263						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGGTAAAGTCTGAATATTT	0.348000													34	71					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952960	71952960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71952960C>T	ENST00000355327.3	+	8	1378	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S415L|THSD4_ENST00000357769.4_Missense_Mutation_p.S55L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	415						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTTGTGTCGGGCGTGTTT	0.547000													64	86					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316873	203316873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203316873G>A	ENST00000354955.4	-	2	989	c.526C>T	c.(526-528)Cga>Tga	p.R176*	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	176					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGGGATCGAGGCAGGGGA	0.597000													5	191					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68216504	68216504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68216504C>T	ENST00000294304.7	+	23	4920	c.4814C>T	c.(4813-4815)cCg>cTg	p.P1605L	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1605	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTCTTCCCGCCCCCTCCG	0.617000													20	31					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149759187	149759187	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149759187G>T	ENST00000451292.1	+	17	2859	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G	TCOF1_ENST00000439160.2_Silent_p.G917G|TCOF1_ENST00000445265.2_Silent_p.G840G|TCOF1_ENST00000377797.3_Silent_p.G917G|TCOF1_ENST00000394269.3_Silent_p.G917G|TCOF1_ENST00000323668.7_Silent_p.G840G|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000504761.2_Silent_p.G917G|TCOF1_ENST00000513346.1_Silent_p.G917G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	917					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCTGGGAAGACAGGGC	0.637000													5	63					0.014758	0.0152625	1	1	0
HR	55806	broad.mit.edu	37	8	21984708	21984708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21984708C>A	ENST00000381418.4	-	3	2727	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	HR_ENST00000312841.8_Missense_Mutation_p.S416I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	416							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GACCTCGGGGCTGCCTGCCCT	0.677000													6	74					5.9392e-07	6.91975e-07	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82432123	82432123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82432123C>A	ENST00000370728.1	+	15	2812	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	LPHN2_ENST00000370727.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370715.1_Missense_Mutation_p.L710M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L710M|LPHN2_ENST00000370717.2_Missense_Mutation_p.L723M|LPHN2_ENST00000370713.1_Missense_Mutation_p.L710M|LPHN2_ENST00000370725.1_Missense_Mutation_p.L723M|LPHN2_ENST00000319517.6_Missense_Mutation_p.L710M|LPHN2_ENST00000271029.4_Missense_Mutation_p.L723M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.L723M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L723M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L648M|LPHN2_ENST00000370723.1_Missense_Mutation_p.L710M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L710M			O95490	LPHN2_HUMAN	latrophilin 2	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCGGAGCCTGGGACAGTT	0.378000													7	110					0.00198382	0.00210581	1	1	0
APOB	338	broad.mit.edu	37	2	21238060	21238060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21238060G>T	ENST00000233242.1	-	23	3708	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1194					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGATCCACAGGGAAATTGGA	0.408000													33	64					1.62565e-12	2.04655e-12	1	1	0
TENM2	57451	broad.mit.edu	37	5	167642224	167642224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167642224C>T	ENST00000519204.1	+	20	3780	c.3662C>T	c.(3661-3663)gCc>gTc	p.A1221V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1103V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1166V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1342V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1341V					teneurin transmembrane protein 2																		TTTGATGAAGCCCGCTGCGGG	0.557000													5	94					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359652	72359652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72359652C>T	ENST00000001146.2	-	6	1446	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CYP26B1_ENST00000412253.1_Missense_Mutation_p.D224N|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D340N	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	415					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTGAAGCGATCGGGGTCGAAC	0.617000													12	20					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150840969	150840969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150840969G>A	ENST00000397238.2	+	18	2675	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	AGAP3_ENST00000463381.1_Missense_Mutation_p.R561K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	856					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCCCAACAGAGAGCCTGCC	0.632000													47	31					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308769	117308769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117308769C>A	ENST00000321322.6	-	25	4455	c.4454G>T	c.(4453-4455)aGc>aTc	p.S1485I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCACTCCTCGCTGTTGTCCAC	0.607000													9	19					0.0135373	0.0140872	1	1	0
VWA7	80737	broad.mit.edu	37	6	31741095	31741095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31741095C>T	ENST00000375686.3	-	6	1078	c.841G>A	c.(841-843)Gca>Aca	p.A281T	VWA7_ENST00000375688.4_Missense_Mutation_p.A281T|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.A281T	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	281						extracellular region											GCCAGTTTTGCAGCCTGGAGG	0.617000													6	7					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25487072	25487072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25487072A>G	ENST00000381884.4	-	2	277	c.92T>C	c.(91-93)tTa>tCa	p.L31S	CENPJ_ENST00000545981.1_Missense_Mutation_p.L31S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	31					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCACGATTTAATATGACCCC	0.448000													23	33					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839709	27839709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27839709G>A	ENST00000328488.2	-	1	390	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	129					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGATGCGGCGCGCAAGCTGG	0.532000													97	141					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82912354	82912354	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82912354T>G	ENST00000306270.7	-	18	3169	c.2620A>C	c.(2620-2622)Aag>Cag	p.K874Q	IBTK_ENST00000510291.1_Missense_Mutation_p.K874Q|IBTK_ENST00000503631.1_Missense_Mutation_p.K673Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	874					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCAGCATTCTTCAGGGTAACT	0.328000													46	63					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530712	47530712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530712C>T	ENST00000426342.1	-	7	1117	c.371G>A	c.(370-372)cGt>cAt	p.R124H	MDGA2_ENST00000439988.2_Missense_Mutation_p.R353H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124H|MDGA2_ENST00000399232.2_Missense_Mutation_p.R422H	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCACCTCACGGCCAATCTG	0.383000													19	53					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184007445	184007445	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184007445A>C	ENST00000402825.3	+	13	1844	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D497A|ECE2_ENST00000359140.4_Missense_Mutation_p.D468A|ECE2_ENST00000357474.5_Missense_Mutation_p.D543A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	615	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCATCTATGATATGATTGGT	0.493000											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	59					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568470	43568470	+	Missense_Mutation	SNP	G	G	A	rs11554504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43568470G>A	ENST00000216129.6	-	10	1495	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	478	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTCACTGACCGCAGCAGCACG	0.577000													5	40					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392184	42392184	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42392184C>T	ENST00000426726.3	+	5	814	c.540C>T	c.(538-540)atC>atT	p.I180I	RUNDC3A_ENST00000590941.1_Silent_p.I175I|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.I180I	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	180	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAGCGCCATCGACTTCAGGT	0.612000													7	18					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654957	99654957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99654957C>T	ENST00000292450.4	+	2	492	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P110S|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P110S	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	110	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGCATTGCCCGGAGAGCGC	0.592000													7	25					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910836	184910836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184910836G>T	ENST00000231887.3	-	7	1425	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Y354*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	450	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGGGAAGAGTATTGGCTGG	0.428000													14	62					1.36491e-13	1.73287e-13	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118147045	118147045	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118147045T>G	ENST00000365713.2	+	8	1895	c.1732T>G	c.(1732-1734)Ttc>Gtc	p.F578V	LONRF3_ENST00000422289.2_Missense_Mutation_p.F363V|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.F578V|LONRF3_ENST00000371628.3_Missense_Mutation_p.F619V			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	619	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AAATGTTCAATTCTTTGCTGA	0.493000													6	194					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713121	138713121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138713121G>A	ENST00000389532.4	-	11	3450	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1140M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T851M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1129						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGGGAGCGTCTCTACACT	0.662000													34	49					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15802621	15802621	+	Translation_Start_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802621A>G	ENST00000375910.3	+	1	26	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	1					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGACACACCATGATTAGGAC	0.547000													4	48					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48543905	48543905	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48543905C>T	ENST00000293255.2	-	3	325	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	65	EF-hand 2.		T -> R (in dbSNP:rs34862923).		signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTTCCATCTCCGTGGGCATGT	0.537000													22	41					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920468	46920468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46920468G>A	ENST00000378623.1	-	6	905	c.663C>T	c.(661-663)gaC>gaT	p.D221D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	221	LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCAGACTCGTCTGACCAGT	0.627000													13	12					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578499	24578499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24578499C>A	ENST00000319715.4	+	15	2057	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.S542*|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	542					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCGAAAGATCACAGAGGACT	0.458000													23	40					4.26978e-12	5.35206e-12	1	1	0
HERC1	8925	broad.mit.edu	37	15	64041665	64041665	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64041665G>T	ENST00000443617.2	-	10	2207	c.2120C>A	c.(2119-2121)aCt>aAt	p.T707N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	707					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTGGTTTAGTAATAGGACC	0.408000													5	102					5.9392e-07	6.91975e-07	1	1	0
DHRS3	9249	broad.mit.edu	37	1	12638855	12638855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12638855C>T	ENST00000376223.2	-	4	972	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	197					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCATGAAGGCGAAGGCTGAC	0.622000													12	7					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119510623	119510623	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119510623A>T	ENST00000341398.2	-	6	1102	c.1103T>A	c.(1102-1104)tTc>tAc	p.F368Y	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTTGTACAGGAAGAAGACAGT	0.647000													12	27					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355669	79355669	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79355669T>C	ENST00000350881.2	+	7	1118	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.C219R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	310	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGCTTCCAGTGTGGGCCCTG	0.572000													61	118					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89271345	89271345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89271345C>T	ENST00000370521.3	+	11	2026	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	PKN2_ENST00000316005.7_Missense_Mutation_p.P556L|PKN2_ENST00000370513.5_Missense_Mutation_p.P508L|PKN2_ENST00000544045.1_Missense_Mutation_p.P230L|PKN2_ENST00000370505.3_Missense_Mutation_p.P399L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	556					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAACTAGCACCTCCAGCTAGG	0.438000													15	41					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010889	59010889	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59010889T>C	ENST00000263093.2	-	7	1746	c.1637A>G	c.(1636-1638)tAc>tGc	p.Y546C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y462C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	546					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCGCGGAAGTAGAGGAAGCC	0.662000													3	37					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43707815C>T	ENST00000263801.3	-	23	5303	c.5051G>A	c.(5050-5052)cGc>cAc	p.R1684H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498000								Other conserved DNA damage response genes					12	91					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381188	141381188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381188C>T	ENST00000389328.4	-	8	1534	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R400H|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R409H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	409					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCGGCCACGCGCTTGAAGAA	0.592000													16	31					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721185	721185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:721185C>T	ENST00000315082.4	+	11	965	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	284					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTGACTGCGGACTATCTC	0.637000													37	35					0	0	1	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033182	134033182	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134033182A>T	ENST00000370783.3	-	3	354	c.168T>A	c.(166-168)acT>acA	p.T56T	MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Silent_p.T56T|MOSPD1_ENST00000370779.4_Silent_p.T56T	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	56	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTATTTGGAGTAGTACACA	0.338000													17	152					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145651093	145651093	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145651093T>C	ENST00000377348.2	-	5	256	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	VPS28_ENST00000526054.1_Missense_Mutation_p.Y56C|VPS28_ENST00000529182.1_Missense_Mutation_p.Y56C|VPS28_ENST00000292510.4_Missense_Mutation_p.Y56C|VPS28_ENST00000526734.1_5'UTR	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	56	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTCCTTGATGTAGGCCTTCTC	0.612000													15	26					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213702	42213702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42213702C>T	ENST00000221992.6	+	2	282	c.168C>T	c.(166-168)caC>caT	p.H56H	CEACAM5_ENST00000398599.4_Silent_p.H56H|CEACAM5_ENST00000405816.1_Silent_p.H56H|CEA_ENST00000598976.1_Silent_p.H56H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	56	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTTGTCCACAATCTGCCCC	0.483000													40	65					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19283924	19283924	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19283924C>T	ENST00000308406.5	+	4	788	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MAPK7_ENST00000395602.4_Silent_p.Y134Y|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_5'UTR|MAPK7_ENST00000395604.3_Silent_p.Y134Y	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	134	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTCCAGCTACGTGGTCCTGG	0.572000													17	29					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352498	201352498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201352498C>T	ENST00000391967.2	-	6	1496	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	LAD1_ENST00000367313.3_Missense_Mutation_p.D413N|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	399						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGTGTTGTCTGGGAGCTTC	0.617000													54	62					0	0	1	0	0
YPEL2	388403	broad.mit.edu	37	17	57465709	57465709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57465709C>T	ENST00000312655.4	+	3	457	c.139C>T	c.(139-141)Cga>Tga	p.R47*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.R47*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	47						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGTCAAGGACGAGCATACCT	0.418000													12	136					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822497	171822497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822497G>A	ENST00000234160.4	+	10	2031	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	GORASP2_ENST00000452526.2_Missense_Mutation_p.A418T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	406						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAAGGCAGACGCTGCCTCCTC	0.637000													17	32					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33272822	33272822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33272822G>A	ENST00000434618.2	-	4	1157	c.812C>T	c.(811-813)gCc>gTc	p.A271V	TAPBP_ENST00000456592.2_Missense_Mutation_p.A271V|TAPBP_ENST00000489157.1_Missense_Mutation_p.A184V|TAPBP_ENST00000475304.1_Missense_Mutation_p.A289V|TAPBP_ENST00000426633.2_Missense_Mutation_p.A271V	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	271					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GTGTATGGTGGCCAGATAGGT	0.577000													5	125					0	0	1	0	0
EGLN3	112399	broad.mit.edu	37	14	34398308	34398308	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34398308G>A	ENST00000250457.3	-	3	916	c.588C>T	c.(586-588)caC>caT	p.H196H	EGLN3_ENST00000553215.1_Silent_p.H102H	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	196	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GCTGCACTTCGTGTGGGTTCC	0.493000													4	81					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62199530	62199530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199530T>C	ENST00000261517.5	-	66	9111	c.9038A>G	c.(9037-9039)gAt>gGt	p.D3013G	VPS13C_ENST00000395896.4_Missense_Mutation_p.D3013G|VPS13C_ENST00000249837.3_Missense_Mutation_p.D2970G|VPS13C_ENST00000395898.3_Missense_Mutation_p.D2970G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3013					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGTAGGATCTGCCCAGGC	0.413000													37	56					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25280490	25280490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25280490G>T	ENST00000218548.6	+	15	2409	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K686N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	686					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGAGCTGAAGGACATGAGCT	0.542000													18	23					1.50039e-11	1.87199e-11	1	1	0
CDH23	64072	broad.mit.edu	37	10	73206145	73206145	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73206145G>A	ENST00000224721.6	+	2	143	c.138G>A	c.(136-138)acG>acA	p.T46T	CDH23_ENST00000461841.3_Silent_p.T91T|CDH23_ENST00000299366.7_Silent_p.T91T|CDH23_ENST00000398842.3_Silent_p.T46T|CDH23_ENST00000398809.4_Silent_p.T46T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	46	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGAGGACACGCCTGTGGGTG	0.577000													15	36					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31690816	31690816	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31690816T>A	ENST00000375483.3	+	13	1676	c.1676T>A	c.(1675-1677)tTt>tAt	p.F559Y		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	559						cytoplasm|extracellular region	lipid binding										GTGGGCAACTTTGATGTAAGT	0.517000													10	103					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52180523	52180523	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52180523G>T	ENST00000354534.5	+	22	4318	c.4140G>T	c.(4138-4140)atG>atT	p.M1380I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M1339I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1380					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAAGCTTATGGAGGGGAACA	0.393000													4	35					0.00909568	0.00947522	1	1	0
TBXAS1	6916	broad.mit.edu	37	7	139661747	139661747	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139661747G>T	ENST00000263552.6	+	13	1390	c.852G>T	c.(850-852)ctG>ctT	p.L284L	TBXAS1_ENST00000416849.2_Silent_p.L330L|TBXAS1_ENST00000411653.1_Silent_p.L283L|TBXAS1_ENST00000425687.1_Silent_p.L216L|TBXAS1_ENST00000436047.2_Silent_p.L284L|TBXAS1_ENST00000336425.5_Silent_p.L283L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Silent_p.L329L|TBXAS1_ENST00000414508.2_Silent_p.L284L|TBXAS1_ENST00000448866.1_Silent_p.L283L	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	283					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAATGGTCCTGGATGCCCGAC	0.507000													9	41					3.07112e-06	3.52574e-06	1	1	0
RNF6	6049	broad.mit.edu	37	13	26788928	26788928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26788928T>C	ENST00000381588.4	-	5	1843	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	RNF6_ENST00000381570.3_Missense_Mutation_p.Y364C|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.Y364C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	364	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAATGGGGTATATGCAGTACC	0.438000													4	55					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412484	103412484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103412484C>T	ENST00000358392.2	-	42	3550	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	COL11A1_ENST00000512756.1_Missense_Mutation_p.G950D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1066D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1066	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCTGTACCTGCTGACCC	0.463000													10	25					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717968	73717968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717968C>T	ENST00000264448.6	+	10	8990	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2918L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2960					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGACCTTCCGTCTCCCATT	0.438000													47	95					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027713	150027713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150027713G>A	ENST00000343855.4	+	1	776	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GTTTGTGCTGGCCACCTTGCT	0.612000													44	98					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457694	25457694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457694G>T	ENST00000278886.6	-	17	2306	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	745					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCCCCGACAGCTCTCCACTC	0.682000													8	9					0.000442599	0.00048047	1	1	0
PCGF5	84333	broad.mit.edu	37	10	93008308	93008308	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008308C>T	ENST00000336126.5	+	4	488	c.256C>T	c.(256-258)Cta>Tta	p.L86L	PCGF5_ENST00000543648.1_Silent_p.L86L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGTCCCTGGACTACGAGAACG	0.353000													7	120					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7801869	7801869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7801869G>A	ENST00000379562.3	-	12	1150	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.T262I|KIN_ENST00000535925.1_Missense_Mutation_p.T368I			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	368	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATGACGATAGTAGCTGAAAA	0.303000													4	57					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378809	103378809	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103378809G>A	ENST00000412401.2	+	1	337		c.e1+1		TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182							integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAAAGAATGTGAGTCTCTT	0.403000													13	115					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28053407	28053407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28053407A>G	ENST00000377325.1	+	2	705	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	50					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAGGCAGCTTTTTAGG	0.522000													65	116					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60865889	60865889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60865889C>A	ENST00000544856.2	-	4	540	c.162G>T	c.(160-162)gaG>gaT	p.E54D	MARCH10_ENST00000311269.5_Missense_Mutation_p.E54D|MARCH10_ENST00000456609.2_Missense_Mutation_p.E54D|MARCH10_ENST00000583600.1_Missense_Mutation_p.E54D			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	54							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTTGTCTCTTGCCCCC	0.463000													6	57					2.7689e-08	3.31013e-08	1	1	0
FBF1	85302	broad.mit.edu	37	17	73919558	73919558	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73919558G>A	ENST00000586717.1	-	13	1364	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FBF1_ENST00000319129.5_Missense_Mutation_p.A363V|FBF1_ENST00000389570.4_Missense_Mutation_p.A364V			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	363										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTCCCGATGGGCCTCTCTGGT	0.652000													6	4					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152821652	152821652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152821652A>G	ENST00000370186.1	+	12	2488	c.2162A>G	c.(2161-2163)gAg>gGg	p.E721G	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E721G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E735G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E735G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E735G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	735					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGAAGGAGTTCAACCGG	0.657000													6	36					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47333757	47333757	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47333757G>A	ENST00000505841.1	-	0	931					NR_002788.2																						AAACATGAACGTTTTCACTTC	0.413000													20	36					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114248605	114248605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114248605A>G	ENST00000369604.1	-	13	2061	c.1578T>C	c.(1576-1578)atT>atC	p.I526I	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.I473I|PHTF1_ENST00000369598.1_Silent_p.I481I|PHTF1_ENST00000357783.2_Silent_p.I526I|PHTF1_ENST00000393357.2_Silent_p.I526I|PHTF1_ENST00000369596.2_Silent_p.I473I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACAATAATAGGTGTAA	0.383000													8	60					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198676000	198676000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198676000G>A	ENST00000367376.2	+	9	988	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	PTPRC_ENST00000594404.1_Missense_Mutation_p.E112K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E225K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E114K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E275K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E273*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACCTTACAGAATGTAAAAA	0.318000													51	60					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865974	89865974	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89865974T>C	ENST00000268124.5	-	14	2758	c.2426_splice	c.e14+1	p.S809_splice	POLG_ENST00000442287.2_Splice_Site_p.S809_splice	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	809					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTGGCCCACCTGATACGTTTA	0.597000								DNA polymerases (catalytic subunits)					13	235					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282170	47282170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282170G>A	ENST00000467728.1	+	3	1681	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NR1H3_ENST00000481889.2_Missense_Mutation_p.R103H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R103H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R148H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R57H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R148H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R103H|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R148H			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	148					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TACATGCGTCGCAAGTGCCAG	0.622000													5	8					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632000													67	95					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715723	71715723	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71715723A>C	ENST00000393524.2	-	5	1554	c.821T>G	c.(820-822)aTt>aGt	p.I274S	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I309S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I274S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	274						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGGTAGGTAATATCTTGACT	0.468000													5	95					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86267742	86267742	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86267742T>C	ENST00000543262.1	-	4	646	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	ME3_ENST00000323418.6_Missense_Mutation_p.Y45C|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.Y107C|ME3_ENST00000359636.2_Missense_Mutation_p.Y107C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	107					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGAATGATGTACCTTGTAAA	0.522000													23	41					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745686	54745686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54745686G>T	ENST00000440558.2	-	4	472	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRA6_ENST00000245621.5_Missense_Mutation_p.L142I|LILRA6_ENST00000391735.3_Missense_Mutation_p.L142I|LILRA6_ENST00000419410.2_Missense_Mutation_p.L142I|LILRA6_ENST00000270464.5_Missense_Mutation_p.L142I|LILRA6_ENST00000396365.2_Missense_Mutation_p.L142I|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACATCGGAGGGTCATATTC	0.562000													18	37					9.16793e-09	1.10245e-08	1	1	0
CLNK	116449	broad.mit.edu	37	4	10560053	10560053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10560053G>A	ENST00000226951.6	-	8	662	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CLNK_ENST00000507719.1_Silent_p.D99D|CLNK_ENST00000442825.2_Silent_p.D99D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	141					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGCTTCTGACGTCCTTGGAAA	0.383000													7	93					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106187	120106187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120106187C>A	ENST00000229328.5	+	1	630	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PRKAB1_ENST00000541640.1_Silent_p.L46L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	46					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGCCGACCTCTTCCACTCCG	0.612000													4	19					0.150653	0.152692	1	1	0
WDR96	80217	broad.mit.edu	37	10	105902060	105902060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105902060C>T	ENST00000357060.3	-	33	4365	c.4250G>A	c.(4249-4251)aGa>aAa	p.R1417K	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.R1389K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1417										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGAACACTCTCTCAATCTC	0.408000													20	118					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85626601	85626601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85626601C>A	ENST00000322366.6	-	53	8637	c.8230G>T	c.(8230-8232)Gat>Tat	p.D2744Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2761Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2761	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCGTTCATCTGTTTGTGCT	0.383000													11	120					4.68919e-08	5.58064e-08	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27056262	27056262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27056262C>T	ENST00000324856.7	+	2	1629	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q420*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q37*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	420					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCCAGGGCAGCCATACGG	0.627000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								21	34					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10521672	10521672	+	Missense_Mutation	SNP	G	G	A	rs17856222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10521672G>A	ENST00000377038.3	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	291				R -> W (in Ref. 7; AAH07721).	DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGAGCTCCCGCTCACAGGCC	0.562000													7	49					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428545	74428545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74428545C>T	ENST00000334571.2	+	11	1356	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	COQ6_ENST00000394026.4_Missense_Mutation_p.S414F|COQ6_ENST00000238709.4_Missense_Mutation_p.S364F|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000557780.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	439					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ACCAGTGCCTCCCCGCTTGTG	0.502000													12	177					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343712	36343712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36343712C>A	ENST00000339796.5	-	3	1088	c.243G>T	c.(241-243)gaG>gaT	p.E81D	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.E81D|ETV7_ENST00000373737.4_Missense_Mutation_p.E81D|ETV7_ENST00000538992.1_Intron	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	81	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCGTTCATCTCGAACCCGT	0.647000													12	72					3.07112e-06	3.52574e-06	1	1	0
PCDHGA12	0	broad.mit.edu	37	5	140811962	140811962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811962G>A	ENST00000252085.3	+	1	1778	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCAACGTGTCGTTGAG	0.627000													9	143					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64032853	64032853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64032853C>T	ENST00000540288.1	+	25	3017	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	PLCB3_ENST00000325234.5_Nonsense_Mutation_p.R905*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.R972*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	972					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAAGAGCGAGACCTGCG	0.687000													6	14					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464461	110464461	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110464461G>A	ENST00000378402.5	+	42	6563	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2153	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATCAGGGTGGGCTCCAG	0.448000										HNSCC(38;0.096)			33	36					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054026	4054026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054026C>T	ENST00000322357.4	-	2	1483	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R402H	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	402					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGTGCGGATGTGTCG	0.657000													17	31					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807174	45807174	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45807174C>A	ENST00000358525.4	-	8	1273	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	SLC6A20_ENST00000353278.4_Missense_Mutation_p.E349D|SLC6A20_ENST00000456124.2_Missense_Mutation_p.E386D|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	386					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCTGGGACACCTCCATGTTTT	0.577000													4	51					0.014758	0.0152625	1	1	0
MND1	84057	broad.mit.edu	37	4	154315439	154315439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154315439C>T	ENST00000240488.3	+	5	391	c.302C>T	c.(301-303)gCa>gTa	p.A101V	MND1_ENST00000504860.1_Missense_Mutation_p.A86V	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	101					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CAAAAGCATGCAAGCCTACAG	0.333000													4	30					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482482	71482482	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71482482C>T	ENST00000296755.7	+	4	709	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	137						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGCTGCTCGTGCTGACCG	0.527000													40	61					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39306645	39306645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39306645C>T	ENST00000221418.4	-	9	966	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGGAACACCCGGCTGCAGTG	0.617000													6	19					0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71920819	71920819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71920819T>C	ENST00000373238.1	-	4	542	c.185A>G	c.(184-186)gAa>gGa	p.E62G	SAR1A_ENST00000373242.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373236.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373241.4_Missense_Mutation_p.E62G|SAR1A_ENST00000431664.2_Missense_Mutation_p.E62G|SAR1A_ENST00000458634.2_Missense_Mutation_p.E19G			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	62					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTTAGCTCTTCTGATGCTGA	0.358000													12	167					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436060	3436060	+	Missense_Mutation	SNP	C	C	T	rs151284467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3436060C>T	ENST00000301365.4	-	8	1087	c.956G>A	c.(955-957)cGc>cAc	p.R319H	TRPV3_ENST00000572519.1_Missense_Mutation_p.R319H|TRPV3_ENST00000576742.1_Missense_Mutation_p.R319H			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	319						integral to membrane	calcium channel activity	p.R319H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCGTACATGCGCTTCACAAA	0.602000													8	19					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528954	101528954	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101528954C>T	ENST00000284395.5	+	6	940	c.540C>T	c.(538-540)taC>taT	p.Y180Y	LRRK1_ENST00000532029.2_Silent_p.Y183Y|LRRK1_ENST00000388948.3_Silent_p.Y183Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	183					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGAGAGCTACGCTGTCAGGA	0.617000													20	34					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913860	129913860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913860G>A	ENST00000368654.3	-	7	1187	c.812C>T	c.(811-813)gCa>gTa	p.A271V	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	271					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTCTGTTGCGTAATCAGT	0.433000													4	63					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229905	112229905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112229905T>C	ENST00000261733.2	+	8	897	c.836T>C	c.(835-837)cTc>cCc	p.L279P	ALDH2_ENST00000416293.3_Missense_Mutation_p.L232P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	279					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGCAGCAACCTCAAGAGAGTG	0.557000			T	HMGA2	leiomyoma								3	54					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362699	7362699	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7362699G>A	ENST00000266563.5	+	15	1872	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	PEX5_ENST00000266564.3_Silent_p.S592S|PEX5_ENST00000412720.2_Silent_p.S621S|PEX5_ENST00000420616.2_Silent_p.S600S|PEX5_ENST00000455147.2_Silent_p.S600S|PEX5_ENST00000434354.2_Silent_p.S615S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	600					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGCCATGTCGGAGAACATCT	0.592000													25	43					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249233G>A	ENST00000441391.2	+	6	1522	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TTYH2_ENST00000269346.4_Missense_Mutation_p.D425N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572000													46	80					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647671	235647671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235647671G>A	ENST00000366600.3	-	4	750	c.522C>T	c.(520-522)aaC>aaT	p.N174N	B3GALNT2_ENST00000313984.3_Silent_p.N215N|B3GALNT2_ENST00000478199.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	174					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACAGTGATGTTCCTCTGGA	0.423000													44	72					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31752244	31752244	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31752244G>T	ENST00000375663.3	-	12	1943	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	VARS_ENST00000444930.2_Silent_p.L206L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	501					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGGCACGGAGAGCAGGGTGC	0.592000													8	82					1.12685e-05	1.27857e-05	1	1	0
MFSD2A	84879	broad.mit.edu	37	1	40432323	40432323	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40432323C>A	ENST00000372809.5	+	7	947	c.804C>A	c.(802-804)atC>atA	p.I268I	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.I255I|MFSD2A_ENST00000420632.2_Silent_p.I99I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	268					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTATATAATCTGTGCTGTCA	0.542000													33	99					1.06647e-15	1.37037e-15	1	1	0
ZSCAN32	54925	broad.mit.edu	37	16	3434410	3434410	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3434410T>C	ENST00000574940.1	-	5	1470	c.1283A>G	c.(1282-1284)tAg>tGg	p.*428W	ZSCAN32_ENST00000304926.3_Intron|ZSCAN32_ENST00000396852.4_Intron|ZSCAN32_ENST00000422427.2_Nonstop_Mutation_p.*216W|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000573830.1_Nonstop_Mutation_p.*139W|ZSCAN32_ENST00000396846.3_Intron|LA16c-306E5.2_ENST00000575785.1_RNA					zinc finger and SCAN domain containing 32																		TAATGGCCTCTAAAGTGGACT	0.483000													4	82					0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42196180	42196180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42196180G>T	ENST00000265421.4	+	1	208	c.38G>T	c.(37-39)gGg>gTg	p.G13V	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	13					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCTCAACGGGGGAATCACC	0.622000								DNA polymerases (catalytic subunits)					11	93					3.07112e-06	3.52574e-06	1	1	0
TBC1D31	93594	broad.mit.edu	37	8	124117638	124117638	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124117638T>C	ENST00000287380.1	+	8	1233	c.1143T>C	c.(1141-1143)tcT>tcC	p.S381S	TBC1D31_ENST00000518805.1_Silent_p.S14S|TBC1D31_ENST00000309336.3_Silent_p.S381S|TBC1D31_ENST00000522420.1_Silent_p.S276S|TBC1D31_ENST00000378080.2_Silent_p.S276S|TBC1D31_ENST00000327098.5_Silent_p.S381S|TBC1D31_ENST00000521676.1_Silent_p.S276S	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CAGCAAAATCTAGGGAAAGCA	0.333000													5	29					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16101790	16101790	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16101790T>C	ENST00000399408.2	+	2	341	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	ABCC1_ENST00000345148.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000399410.3_Missense_Mutation_p.Y56H|ABCC1_ENST00000351154.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y56H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	56					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTACTTCCTCTATCTCTCCCG	0.522000													30	50					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547891	125547891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125547891C>T	ENST00000533904.1	-	2	696	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000426183.1_Silent_p.Q48Q|ACRV1_ENST00000257382.2_Silent_p.Q63Q|ACRV1_ENST00000433875.1_Silent_p.Q118Q|ACRV1_ENST00000345274.1_Silent_p.Q48Q|ACRV1_ENST00000348856.3_Silent_p.Q63Q|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Silent_p.Q48Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	118	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGGCTGTTCTCCTG	0.542000													31	65					0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939420	125939420	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939420G>T	ENST00000297540.4	+	2	950	c.255G>T	c.(253-255)caG>caT	p.Q85H	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	85	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCAAACGACAGAAATGTTTTA	0.423000													12	122					9.05144e-12	1.1316e-11	1	1	0
KIF22	3835	broad.mit.edu	37	16	29810712	29810712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29810712C>A	ENST00000561482.1	+	6	1320	c.683C>A	c.(682-684)gCc>gAc	p.A228D	KIF22_ENST00000160827.4_Missense_Mutation_p.A296D|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.A228D|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.A228D	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	296	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAGAGTGGAGCCATCAACACC	0.557000													18	43					1.37522e-17	1.78525e-17	1	1	0
HK2	3099	broad.mit.edu	37	2	75107511	75107511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75107511G>A	ENST00000290573.2	+	10	1985	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	HK2_ENST00000409174.1_Missense_Mutation_p.R434Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	462	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCTTACCGGCTGGCCGAT	0.612000													38	59					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42678574	42678574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678574C>A	ENST00000232978.8	+	13	1566	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	460					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAAGGATTCTTATACCGTC	0.363000													23	35					2.89027e-11	3.59474e-11	1	1	0
DLC1	10395	broad.mit.edu	37	8	13356716	13356716	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356716A>G	ENST00000276297.4	-	2	1274	c.865T>C	c.(865-867)Tca>Cca	p.S289P	DLC1_ENST00000316609.5_Missense_Mutation_p.S289P|DLC1_ENST00000511869.1_Missense_Mutation_p.S289P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	289					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCAGCTGACATTCCATTG	0.433000													53	88					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802156	120802156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120802156C>T	ENST00000369144.3	-	19	3003	c.2876G>A	c.(2875-2877)cGg>cAg	p.R959Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R925Q|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	959	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATGCCACGCCGGGGAACCCG	0.582000													58	76					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2634034	2634034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2634034C>A	ENST00000329276.5	+	3	719	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	68					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACGCCGTGTCTGAAGGTAAG	0.542000													35	37					4.11147e-13	5.20562e-13	1	1	0
KIR3DX1	0	broad.mit.edu	37	19	55048342	55048342	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55048342C>A	ENST00000335056.3	+	5	947	c.909C>A	c.(907-909)ccC>ccA	p.P303P	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ATGACTCTCCCTATAAGCCCC	0.572000													5	68					0.0293803	0.0301098	1	1	0
PER3	8863	broad.mit.edu	37	1	7886619	7886619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7886619C>T	ENST00000377532.3	+	16	2261	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	PER3_ENST00000361923.2_Silent_p.H671H|RP3-467L1.4_ENST00000451646.1_RNA			P56645	PER3_HUMAN	period circadian clock 3	671	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAAACACGTGGGGCTCA	0.512000													7	40					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173168	171173168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171173168C>T	ENST00000441535.1	+	6	909	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Silent_p.F264F|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	264					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCGGTGGTTCAACCATGAAA	0.433000													16	39					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848641	37848641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37848641G>A	ENST00000381967.4	+	9	1197	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	PGM2_ENST00000544359.1_Missense_Mutation_p.R227H|PGM2_ENST00000537241.1_Missense_Mutation_p.R206H	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	366					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AACCAGGATCGCAGTGCTCTC	0.488000													16	109					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709177	77709177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77709177C>T	ENST00000328313.5	+	3	956	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	245					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617000													22	37					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202952	39202952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39202952G>A	ENST00000351578.6	-	2	301	c.111C>T	c.(109-111)aaC>aaT	p.N37N	FYB_ENST00000505428.1_Silent_p.N37N|FYB_ENST00000515010.1_Silent_p.N37N|FYB_ENST00000540520.1_Silent_p.N47N|FYB_ENST00000512982.1_Silent_p.N37N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	37					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTGAATAAGTTCTTTCTTG	0.507000													14	31					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149491916	149491916	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149491916T>C	ENST00000378016.2	+	0	6117							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCACTCCTGCCGCAGCTC	0.612000													3	73					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266833	266833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266833C>T	ENST00000538872.1	+	7	2534	c.2416C>T	c.(2416-2418)Ctg>Ttg	p.L806L	IQSEC3_ENST00000382841.2_Silent_p.L503L|IQSEC3_ENST00000326261.4_Silent_p.L806L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	806	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAAGATGATGCTGGAGGACTT	0.592000													6	59					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70916787	70916787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70916787C>A	ENST00000373382.1	+	5	907	c.254C>A	c.(253-255)aCt>aAt	p.T85N	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Missense_Mutation_p.T68N|VPS26A_ENST00000489794.1_Missense_Mutation_p.T60N|VPS26A_ENST00000263559.6_Missense_Mutation_p.T85N|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000395098.1_Missense_Mutation_p.T85N			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	85					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGTAATACTCATGAATTT	0.318000													10	25					2.17888e-05	2.45068e-05	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103055642	103055642	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103055642A>T	ENST00000375735.2	+	41	6639	c.6495A>T	c.(6493-6495)gaA>gaT	p.E2165D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2165D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2165					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTAGAAACAAGTTTGG	0.373000													7	86					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12837722	12837722	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12837722C>T	ENST00000380668.5	+	5	755	c.627C>T	c.(625-627)ggC>ggT	p.G209G	PRPS2_ENST00000398491.2_Silent_p.G212G	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	209					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.G209G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TCCTGGTGGGCGACGTGAAGG	0.557000													86	148					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108679426	108679426	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108679426A>G	ENST00000565488.1	-	10	1502	c.1283T>C	c.(1282-1284)gTt>gCt	p.V428A	SLC25A24_ENST00000370041.4_Missense_Mutation_p.V409A	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	428					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		AAAGAGGCCAACCATATTCAG	0.378000													3	91					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541847	44541847	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44541847G>T	ENST00000436261.1	-	4	582	c.422C>A	c.(421-423)cCt>cAt	p.P141H	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	141					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GGAAGACAGAGGTGGATGTTC	0.383000													4	61					0.00024832	0.0002712	1	1	0
TMEM165	55858	broad.mit.edu	37	4	56290771	56290771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56290771G>T	ENST00000381334.5	+	5	1092	c.859G>T	c.(859-861)Gga>Tga	p.G287*	TMEM165_ENST00000506198.1_Nonsense_Mutation_p.G92*|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Nonsense_Mutation_p.G224*	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGCAGTAATTGGAGGAAGAAT	0.443000													4	44					0.00024832	0.0002712	1	1	0
VAV2	7410	broad.mit.edu	37	9	136661642	136661642	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136661642C>T	ENST00000371851.1	-	10	1251	c.926G>A	c.(925-927)tGc>tAc	p.C309Y	VAV2_ENST00000406606.3_Missense_Mutation_p.C309Y|VAV2_ENST00000371850.3_Missense_Mutation_p.C314Y			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	314	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTCAGTGTGCACTCCTGGGA	0.607000													8	11					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75335382	75335382	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75335382C>T	ENST00000394811.2	-	0	51				USP54_ENST00000428547.1_Missense_Mutation_p.R12H|USP54_ENST00000408019.1_Missense_Mutation_p.R12H|USP54_ENST00000339859.4_Missense_Mutation_p.R12H|USP54_ENST00000319786.7_Missense_Mutation_p.R12H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R12H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TACACTACCACGACCCCCTGA	0.453000													6	77					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4857058	4857058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4857058C>T	ENST00000323997.6	+	6	494	c.362C>T	c.(361-363)gCg>gTg	p.A121V	ENO3_ENST00000518175.1_Missense_Mutation_p.A121V|ENO3_ENST00000519584.1_Missense_Mutation_p.A78V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	121					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTGTGTAAGGCGGGAGCAGCT	0.612000													4	93					0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52028026	52028026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52028026C>T	ENST00000466397.1	-	4	359	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RPL29_ENST00000294189.6_Silent_p.K73K|RPL29_ENST00000495383.1_Silent_p.K73K|RPL29_ENST00000475248.1_Silent_p.K73K|RPL29_ENST00000479017.1_Silent_p.K73K			P47914	RL29_HUMAN	ribosomal protein L29	73					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACGAGGGCCTTGATAGCCT	0.547000													29	35					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147396	95147396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95147396G>A	ENST00000354268.4	+	3	390	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C106Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	106					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCCCCAAATTGCTCCAATACA	0.303000													42	81					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175324739C>T	ENST00000367674.1	-	17	3857	c.3149G>A	c.(3148-3150)aGt>aAt	p.S1050N	TNR_ENST00000263525.2_Missense_Mutation_p.S1050N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1050	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1050I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552000													21	50					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174764	150174764	+	Missense_Mutation	SNP	G	G	A	rs144516226	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174764G>A	ENST00000307271.3	+	5	2468	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	632						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGTGGTCCGGGTATCCCCA	0.403000													34	108					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780360	91780360	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91780360C>T	ENST00000389857.6	-	15	1886	c.1800G>A	c.(1798-1800)acG>acA	p.T600T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	600					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATTGGCCTCCGTCACCGTCT	0.622000													11	24					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147880	59147880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59147880C>T	ENST00000472487.1	-	8	875	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	279					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTTGAAGACAGCCCCTGGA	0.358000													14	166					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773747	41773747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773747G>A	ENST00000394253.3	-	3	1304	c.975C>T	c.(973-975)tgC>tgT	p.C325C	USP49_ENST00000373006.1_Silent_p.C325C|USP49_ENST00000297229.2_Silent_p.C325C|USP49_ENST00000373009.3_Silent_p.C325C|USP49_ENST00000373010.1_Silent_p.C325C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	325					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCCCGCTCGCATGCCTCGG	0.582000													10	19					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793840	49793840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49793840C>A	ENST00000454748.3	-	11	2164	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	SLC6A16_ENST00000335875.4_Intron			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	655						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAAAGGGGTTCTGGGTCCTGG	0.512000													5	29					0.014758	0.0152625	1	1	0
SFTPA1	653509	broad.mit.edu	37	10	81373771	81373771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81373771G>T	ENST00000398636.3	+	6	787	c.649G>T	c.(649-651)Gca>Tca	p.A217S	SFTPA1_ENST00000372313.5_Missense_Mutation_p.A158S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.A217S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A232S|SFTPA1_ENST00000372308.3_Missense_Mutation_p.A217S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	217	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGGGAGCCCGCAGGTCGGGG	0.562000													15	143					2.23348e-06	2.57349e-06	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67079048	67079048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67079048G>A	ENST00000284425.2	-	36	4756	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1528					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAGCTTCAGAATCTCAGTG	0.448000													112	166					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585854	33585854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33585854G>A	ENST00000299977.4	+	2	293	c.145G>A	c.(145-147)Gct>Act	p.A49T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A49T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A49T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	49					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCAGTATGTGCTCTGCTGAA	0.488000													33	35					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28365631	28365631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28365631C>A	ENST00000479665.1	-	8	1612	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	361						mitochondrion|plasma membrane		p.A361P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCCAAATGCTGTCTCACTT	0.378000													6	167					2.0095e-06	2.31757e-06	1	1	0
WRN	7486	broad.mit.edu	37	8	30938402	30938402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30938402G>T	ENST00000298139.5	+	9	1108	c.859G>T	c.(859-861)Gat>Tat	p.D287Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	287					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTACTAAAGGATATTTCAGA	0.299000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	22					0.000157383	0.00017284	1	1	0
BAI3	577	broad.mit.edu	37	6	70071116	70071116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70071116T>C	ENST00000370598.1	+	29	4772	c.3951T>C	c.(3949-3951)aaT>aaC	p.N1317N	BAI3_ENST00000546190.1_Silent_p.N281N|BAI3_ENST00000238918.8_Silent_p.N523N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1317					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTCTGTAAATAACCAGCCTT	0.393000													5	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9016986	9016986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9016986C>A	ENST00000397910.4	-	27	38212	c.38009G>T	c.(38008-38010)aGc>aTc	p.S12670I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12672					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S12670N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACTGCTGCTGGTGGGCAC	0.532000													8	38					0.00307968	0.00325696	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021757	132021757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132021757G>A	ENST00000356920.5	+	15	2823	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding										GAAATCGTGCGTGACATCAAA	0.602000													12	145					0	0	1	0	0
MLTK	0	broad.mit.edu	37	2	174131150	174131150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174131150C>A	ENST00000375213.3	+	20	2153	c.2075C>A	c.(2074-2076)cCt>cAt	p.P692H	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P692H	NM_016653.2	NP_057737.2																					AATTCTTCTCCTAGAGGAAGA	0.453000													9	72					1.58986e-06	1.84011e-06	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36898233	36898233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36898233G>T	ENST00000301807.6	-	12	3095	c.1198C>A	c.(1198-1200)Cgc>Agc	p.R400S	TRANK1_ENST00000429976.2_Missense_Mutation_p.R950S|TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498000													83	102					4.05715e-38	5.46742e-38	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38211113	38211113	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211113T>C	ENST00000379705.3	-	11	3718	c.2861A>G	c.(2860-2862)gAc>gGc	p.D954G	TRPC4_ENST00000355779.2_Missense_Mutation_p.D813G|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959G|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813G|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781G|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805G|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781G|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATACTAGAGTCCTCTTCTTT	0.438000													8	62					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34936026	34936026	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34936026G>T	ENST00000439527.2	+	8	981	c.483_splice	c.e8+1	p.K161_splice	UBA2_ENST00000246548.4_Splice_Site_p.K257_splice			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	257					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTTTACCAAGGTTAGATTTA	0.308000													28	46					4.22769e-11	5.25533e-11	1	1	0
RP11-115K3.2	0	broad.mit.edu	37	17	36243580	36243580	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36243580C>T	ENST00000590732.1	-	0	108					NR_024178.1																						TCTGCACTTACCCCCATTATC	0.313000													9	9					0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182369445	182369445	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182369445A>G	ENST00000367565.1	-	1	306	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	59						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CCTTGATGGCACTTGCTTCCT	0.473000													40	60					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30668232	30668232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30668232T>C	ENST00000389266.3	+	14	1997	c.1756T>C	c.(1756-1758)Tat>Cat	p.Y586H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	586					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAGGATCATGTATACGGTATT	0.368000													6	145					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113254974	113254974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113254974C>T	ENST00000464951.1	-	5	1625	c.217G>A	c.(217-219)Gat>Aat	p.D73N	PPM1J_ENST00000359994.4_Missense_Mutation_p.D73N|PPM1J_ENST00000309276.6_Missense_Mutation_p.D279N			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	279										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCTATCGCCTGCATTG	0.607000													5	9					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124812048	124812048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124812048C>T	ENST00000356219.3	-	46	7266	c.7111G>A	c.(7111-7113)Gct>Act	p.A2371T	NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2354T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2364T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1925T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2375					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTTAAAAGCATTGGCGCTG	0.577000													14	23					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5399145	5399145	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5399145T>G	ENST00000399537.4	-	15	5065	c.4717A>C	c.(4717-4719)Aga>Cga	p.R1573R	TNRC18_ENST00000430969.1_Silent_p.R1573R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1573							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTCTCTTTCTTATCCCTGCT	0.557000													130	84					0	0	1	0	0
LSMEM2	132228	broad.mit.edu	37	3	50324117	50324117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50324117G>A	ENST00000316436.3	+	3	272	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_153215.1	NP_694947.1			leucine-rich single-pass membrane protein 2																		GGCACACTGCGCCCCTATCTA	0.632000													11	15					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127503458	127503458	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127503458T>C	ENST00000262461.2	+	18	2811	c.2622T>C	c.(2620-2622)gcT>gcC	p.A874A	SLC12A2_ENST00000343225.4_Silent_p.A874A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	874					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTTAGGCTGCTGGTCTTGGTC	0.338000													28	54					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28365651	28365651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28365651G>A	ENST00000479665.1	-	8	1592	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	354						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGATTTAGGAGGACTTGGAAA	0.403000													5	178					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720329	140720329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140720329C>T	ENST00000394576.2	+	1	1791	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACTCGGGCCAGA	0.692000													46	65					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129813206	129813206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129813206C>T	ENST00000421865.2	+	57	8108	c.8059C>T	c.(8059-8061)Ctt>Ttt	p.L2687F	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2687	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2687I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATATGGAATCTTGTTATTAA	0.383000													21	57					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36276168	36276168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36276168G>A	ENST00000007510.4	+	18	1943	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G464D|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G600D			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	600					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGCCGGGGCCCCAGTGTC	0.677000													17	28					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681784	52681784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52681784G>T	ENST00000327741.5	-	5	952	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	295	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGTACCAGGACTCGGCCTC	0.557000													14	37					1.99824e-07	2.35189e-07	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687330	158687330	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158687330C>T	ENST00000368146.1	-	1	623	c.624G>A	c.(622-624)acG>acA	p.T208T	OR6K3_ENST00000368145.1_Silent_p.T192T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAATCATGGACGTGTCTGTAC	0.448000													32	53					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49365228	49365228	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49365228T>G	ENST00000351842.4	-	3	259	c.251A>C	c.(250-252)aAa>aCa	p.K84T	USP4_ENST00000415188.1_Missense_Mutation_p.K84T|USP4_ENST00000265560.4_Missense_Mutation_p.K84T|USP4_ENST00000416417.1_Missense_Mutation_p.K84T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	84	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTGTTCTTTCAAGGTCTG	0.413000													12	60					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82180237	82180237	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82180237A>G	ENST00000372181.1	+	1	484	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	FAM213A_ENST00000372188.1_Missense_Mutation_p.Q5R|FAM213A_ENST00000372187.5_Missense_Mutation_p.Q5R|FAM213A_ENST00000372185.1_Splice_Site	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	5						extracellular region											TCTTTCCTCCAGGACCCAAGT	0.542000													7	63					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319618	21319618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21319618C>A	ENST00000583088.1	+	3	1859	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L322M	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.L322L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAATGAGATCCTGTGGGGTCA	0.582000										Prostate(3;0.18)			19	109					5.35267e-07	6.25286e-07	1	1	0
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	C	A	rs147787442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113673059C>A	ENST00000330212.3	+	3	973	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572000													14	118					2.32078e-09	2.82054e-09	1	1	0
USP15	9958	broad.mit.edu	37	12	62783719	62783719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62783719C>T	ENST00000280377.5	+	14	1853	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R570*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R574*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	599					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCTGTACCACGAAACAATAC	0.363000													16	18					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113743999	113743999	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113743999C>T	ENST00000397030.1	+	26	3046	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	MCF2L_ENST00000375597.4_Silent_p.Y968Y|MCF2L_ENST00000375608.3_Silent_p.Y1000Y|MCF2L_ENST00000535094.2_Silent_p.Y970Y|MCF2L_ENST00000434480.2_Silent_p.Y976Y|MCF2L_ENST00000375601.3_Silent_p.Y974Y|MCF2L_ENST00000442652.2_Silent_p.Y1000Y|MCF2L_ENST00000375604.2_Silent_p.Y1027Y|MCF2L_ENST00000421756.1_Silent_p.Y974Y|MCF2L_ENST00000423482.2_Silent_p.Y968Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1000					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGAGGGATACGTCAGCTCAG	0.547000													5	26					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180780624	180780624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180780624G>A	ENST00000367590.4	+	7	961	c.763_splice	c.e7+1	p.A255_splice	XPR1_ENST00000367589.3_Splice_Site_p.A255_splice	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	255						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGCTTGCCGGTAAGTAGTT	0.373000													4	78					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1314993	1314993	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1314993G>A	ENST00000381567.3	-	6	667	c.668C>T	c.(667-669)aCg>aTg	p.T223M	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	223						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTGGGAGGCGTTGGTGTCTC	0.448000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								15	21					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234509404	234509404	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234509404C>T	ENST00000366615.4	+	1	203	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GAAAGGAAGCCGGACGTGGGC	0.711000													38	87					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78011930	78011930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78011930C>A	ENST00000397545.4	+	2	65	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.P13Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.P13Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.P13Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	13					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCCCATCCGGAAGATGGA	0.423000													4	15					0.00909568	0.00947522	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	rs141346043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46657579C>T	ENST00000544460.1	+	1	1968	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.R572*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443000													54	97					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313531	1313531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1313531C>T	ENST00000296839.2	+	1	857	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	198					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GATGCTCAACCCCAACAGCGA	0.701000													15	22					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45681909	45681909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45681909G>A	ENST00000216211.4	+	2	172	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	UPK3A_ENST00000396082.2_Missense_Mutation_p.C47Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	47					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCCTCTCTGCATGTTTGAC	0.572000													18	38					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123781513	123781513	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123781513G>T	ENST00000369005.1	+	2	357	c.17G>T	c.(16-18)aGc>aTc	p.S6I	TACC2_ENST00000358010.1_Missense_Mutation_p.S6I|TACC2_ENST00000513429.1_Missense_Mutation_p.S6I|TACC2_ENST00000334433.3_Missense_Mutation_p.S6I|TACC2_ENST00000515273.1_Missense_Mutation_p.S6I|TACC2_ENST00000453444.2_Missense_Mutation_p.S6I|TACC2_ENST00000515603.1_Missense_Mutation_p.S6I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	6						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AATGAGAACAGCACCTCGGAC	0.483000													13	25					4.93089e-13	6.23885e-13	1	1	0
ABHD2	11057	broad.mit.edu	37	15	89736483	89736483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89736483G>A	ENST00000352732.5	+	10	1534	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	ABHD2_ENST00000355100.3_Missense_Mutation_p.M338I|ABHD2_ENST00000565973.1_Missense_Mutation_p.M338I	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	338						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCTCTCATGCTGGTTAATG	0.433000													7	72					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46764040	46764040	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46764040G>T	ENST00000343304.6	-	2	487	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	68										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCCTGGGAGGGCTACAAAA	0.423000													20	26					3.51602e-12	4.4132e-12	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86227999	86227999	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86227999G>A	ENST00000394518.2	+	16	5279	c.5184G>A	c.(5182-5184)ctG>ctA	p.L1728L	AKAP13_ENST00000361243.2_Silent_p.L1732L|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1728					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATAATTTCCTGCCACATAGCC	0.333000													4	73					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96125218G>T	ENST00000458427.1	+	1	2061	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Nonsense_Mutation_p.E469*	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	469					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403000													21	26					2.4624e-09	2.98951e-09	1	1	0
KRT81	3887	broad.mit.edu	37	12	52682229	52682229	+	Silent	SNP	G	G	A	rs140435760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52682229G>A	ENST00000327741.5	-	4	719	c.651C>T	c.(649-651)tgC>tgT	p.C217C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	217	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTAGGCGCAGTCCACAT	0.622000													39	69					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128391772	128391772	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128391772A>G	ENST00000389524.4	+	40	5511	c.5458A>G	c.(5458-5460)Aca>Gca	p.T1820A	MYO7B_ENST00000409816.2_Missense_Mutation_p.T1819A|MYO7B_ENST00000428314.1_Missense_Mutation_p.T1819A|MYO7B_ENST00000409090.1_Missense_Mutation_p.T672A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1819	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTTGCCAACACACGGGTGCG	0.637000													6	4					0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12728276	12728276	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12728276G>A	ENST00000396663.1	+	2	879	c.397G>A	c.(397-399)Gct>Act	p.A133T	ARL4A_ENST00000356797.3_Missense_Mutation_p.A133T|ARL4A_ENST00000396664.2_Missense_Mutation_p.A133T|ARL4A_ENST00000404894.1_Missense_Mutation_p.A133T|ARL4A_ENST00000396662.1_Missense_Mutation_p.A133T	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	133					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ACTTATAGTTGCTAACAAACA	0.398000													5	101					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087572	5087572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087572C>A	ENST00000575779.1	-	2	136		c.e2-1		ZNF594_ENST00000399604.4_5'UTR	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTTCAGAATCTGAAATGATA	0.358000													8	29					0.00448238	0.00472561	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97861270	97861270	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97861270G>A	ENST00000447648.2	-	13	2119	c.1818_splice	c.e13-1	p.S607_splice	TECPR1_ENST00000379795.3_Splice_Site_p.S608_splice|TECPR1_ENST00000542604.1_Splice_Site_p.S537_splice			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	607						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCACACCGACTGCGCAGG	0.721000													6	12					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229644	3229644	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229644C>A	ENST00000217939.6	-	7	6754	c.6600G>T	c.(6598-6600)gtG>gtT	p.V2200V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2200	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGGCAAACACCTTGATTC	0.448000													6	71					0.0215528	0.0221649	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23866114	23866114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23866114C>T	ENST00000269142.5	+	7	2239	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TAF4B_ENST00000578121.1_Missense_Mutation_p.S414F|TAF4B_ENST00000400466.2_Missense_Mutation_p.S414F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	414					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACACTTCATTCTGTGGGCCCA	0.498000													19	28					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40257143	40257143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40257143G>T	ENST00000251642.3	-	10	1516	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	432	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGGTTCAGGGTTCCATCT	0.562000													10	18					2.52707e-12	3.17576e-12	1	1	0
NEURL4	84461	broad.mit.edu	37	17	7224923	7224923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224923G>A	ENST00000399464.2	-	18	3070	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q1017*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q995*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGGAGCTGCCCATCACGC	0.652000													7	66					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238485900	238485900	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238485900C>A	ENST00000264601.3	-	4	1064	c.435_splice	c.e4+1	p.Q145_splice	RAB17_ENST00000538644.1_Splice_Site_p.Q18_splice|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.Q18_splice	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGGCGGTACCTGGAAGGTCA	0.622000													6	68					0.0215528	0.0221649	1	1	0
FAM5C	0	broad.mit.edu	37	1	190250845	190250845	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:190250845A>G	ENST00000367462.3	-	3	503	c.272T>C	c.(271-273)gTt>gCt	p.V91A	FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		91						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCTTCTCTCAACTGCAAGGTT	0.398000													11	32					0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169018	19169018	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19169018A>G	ENST00000284881.4	-	3	635	c.545T>C	c.(544-546)tTa>tCa	p.L182S	C21orf91_ENST00000400559.3_Missense_Mutation_p.L182S|C21orf91_ENST00000400558.3_Missense_Mutation_p.L182S|AL109761.5_ENST00000428689.1_RNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	182										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GTTACGACATAAAGTGGCACC	0.438000													8	186					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126178503	126178503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178503G>A	ENST00000389709.3	-	7	2258	c.2205C>T	c.(2203-2205)agC>agT	p.S735S		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	735					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACCTGCATTGCTCCCCGCTC	0.537000													36	375					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551875	21551875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21551875C>A	ENST00000415912.2	-	17	1985	c.1860G>T	c.(1858-1860)gaG>gaT	p.E620D	ECE1_ENST00000357071.4_Missense_Mutation_p.E624D|ECE1_ENST00000436918.2_Missense_Mutation_p.E636D|ECE1_ENST00000374893.6_Missense_Mutation_p.E636D|ECE1_ENST00000264205.6_Missense_Mutation_p.E633D	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	636					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTTGAAGGCCTCCACGGATG	0.622000													4	31					0.00909568	0.00947522	1	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74538062	74538062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74538062G>A	ENST00000553458.1	-	6	664	c.566C>T	c.(565-567)gCc>gTc	p.A189V	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A176V|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	189						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGGGATCATGGCAGGAAAATT	0.498000													20	28					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72832394	72832394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72832394C>T	ENST00000268489.5	-	9	4859	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACACATGGCGATCTGACAC	0.502000													24	43					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27074497	27074497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074497T>C	ENST00000480456.1	+	6	1163	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	JAM2_ENST00000312957.5_Missense_Mutation_p.S205P|JAM2_ENST00000400532.1_Missense_Mutation_p.S205P|JAM2_ENST00000425221.2_Missense_Mutation_p.S169P	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	205	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TAATACTGTTTCCAAACTGGA	0.358000													16	28					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128354116	128354116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128354116G>A	ENST00000389524.4	+	19	2377	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q	MYO7B_ENST00000409816.2_Missense_Mutation_p.R775Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R775Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	775	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAAGTCCTTCGGGGCTACAGA	0.617000													5	8					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126017926	126017926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126017926A>G	ENST00000265896.5	+	3	1602	c.704A>G	c.(703-705)aAa>aGa	p.K235R	SQLE_ENST00000523430.1_Missense_Mutation_p.K140R	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	235					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTCTCCGGAAAGCAGCTATG	0.373000													16	24					0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359493	103359493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359493C>T	ENST00000537356.2	+	1	691	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	231							nucleic acid binding|zinc ion binding										TAAACGGAAGCGGCCGAAAAG	0.493000													9	13					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4844395	4844395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4844395G>T	ENST00000262482.6	+	3	764	c.108G>T	c.(106-108)atG>atT	p.M36I	RNF167_ENST00000572430.1_Missense_Mutation_p.M36I|RNF167_ENST00000571816.1_Missense_Mutation_p.M36I|RNF167_ENST00000575111.1_Missense_Mutation_p.M36I|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000576229.1_Start_Codon_SNP_p.M1I	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	36					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATGCCAGCATGGACTTTGCAG	0.552000													15	33					2.31682e-05	2.60394e-05	1	1	0
FDFT1	2222	broad.mit.edu	37	8	11687765	11687765	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11687765T>C	ENST00000220584.4	+	6	937	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	FDFT1_ENST00000538689.1_Missense_Mutation_p.Y128H|FDFT1_ENST00000530664.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000525900.1_Missense_Mutation_p.Y232H|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528643.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000528812.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000443614.2_Missense_Mutation_p.Y196H|FDFT1_ENST00000525777.1_Missense_Mutation_p.Y154H	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	239					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTGGAGCAGGTATGTTAAGAA	0.423000													47	61					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905866	38905866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905866G>A	ENST00000359357.3	+	76	11283	c.11029G>A	c.(11029-11031)Gct>Act	p.A3677T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A3641T|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3894T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATCAACGCGGCTCAGGAGGA	0.517000													21	31					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232137	58232137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232137G>A	ENST00000317398.6	-	4	1412	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.H341H	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACATTAAGGTGGGAGCTTT	0.463000													27	52					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128890339	128890339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128890339C>T	ENST00000422453.2	-	3	327	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CNBP_ENST00000502976.1_Missense_Mutation_p.R49H|CNBP_ENST00000451728.2_Missense_Mutation_p.R56H|CNBP_ENST00000500450.2_Missense_Mutation_p.R39H|CNBP_ENST00000446936.2_Missense_Mutation_p.R49H|CNBP_ENST00000441626.2_Missense_Mutation_p.R56H|CNBP_ENST00000504813.1_Missense_Mutation_p.R46H	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	56					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTCACCACAGCGATAACAAAT	0.423000													29	37					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4540418	4540418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4540418C>T	ENST00000570836.1	-	8	1039	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	ALOX15_ENST00000574640.1_Missense_Mutation_p.V276I|ALOX15_ENST00000293761.3_Missense_Mutation_p.V315I|ALOX15_ENST00000545513.1_Missense_Mutation_p.V337I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	315	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ACCTGGATGACCATGGGCAAG	0.517000													9	75					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46865317	46865317	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46865317G>T	ENST00000393382.3	-	11	1586	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	TTLL6_ENST00000433608.2_Missense_Mutation_p.T175N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	434						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATACGTTTCAGTTTTCTTTAA	0.483000													77	131					2.1672e-28	2.89635e-28	1	1	0
CCDC135	84229	broad.mit.edu	37	16	57752284	57752284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57752284C>A	ENST00000360716.3	+	9	1324	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CCDC135_ENST00000394337.4_Missense_Mutation_p.P368H|CCDC135_ENST00000336825.8_Missense_Mutation_p.P303H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	368						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGGGTGACCCTGTGAGATGG	0.532000													55	101					6.3237e-29	8.45558e-29	1	1	0
MINK1	50488	broad.mit.edu	37	17	4799865	4799865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799865G>A	ENST00000355280.6	+	30	3953	c.3757G>A	c.(3757-3759)Gag>Aag	p.E1253K	MINK1_ENST00000453408.3_Missense_Mutation_p.E1233K|MINK1_ENST00000347992.7_Missense_Mutation_p.E1224K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1253	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAGTGGGGGGAGATGCCTAC	0.637000													17	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058224	9058224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9058224G>T	ENST00000397910.4	-	3	29425	c.29222C>A	c.(29221-29223)cCt>cAt	p.P9741H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGACACAGGAGAAAGTGA	0.498000													4	29					1.024e-07	1.214e-07	1	1	0
PNPLA5	150379	broad.mit.edu	37	22	44277523	44277523	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44277523C>A	ENST00000216177.4	-	8	1246	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y	PNPLA5_ENST00000381198.2_Missense_Mutation_p.D258Y|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D258Y|PNPLA5_ENST00000597664.1_Missense_Mutation_p.D372Y	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	372					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACCACAAGTCCGCCGGCACA	0.662000													5	5					1.23904e-05	1.39987e-05	1	1	0
CCDC82	79780	broad.mit.edu	37	11	96106557	96106557	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96106557A>C	ENST00000278520.5	-	5	1494	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	CCDC82_ENST00000542662.1_Missense_Mutation_p.F356V|CCDC82_ENST00000423339.2_Missense_Mutation_p.F356V			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	356							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTCCCAGAAAAGATTCATCT	0.269000													46	41					0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50381223	50381223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50381223G>T	ENST00000231749.3	-	3	1532	c.260C>A	c.(259-261)cCt>cAt	p.P87H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.P87H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	87						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGAACACAGGGAACACCTT	0.557000										TSP Lung(30;0.18)			13	72					5.50884e-06	6.28354e-06	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115985936	115985936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115985936C>A	ENST00000251864.2	+	22	3289	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932M|TDRD1_ENST00000369280.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650M	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1046	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCTAGCCACCTGGCGCTTCC	0.423000													4	44					0.00024832	0.0002712	1	1	0
PRX	57716	broad.mit.edu	37	19	40902826	40902826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902826A>G	ENST00000324001.7	-	7	1703	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	478	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTTTGGGAGTTTCATCTC	0.582000													11	141					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412676	76412676	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412676G>A	ENST00000370014.3	+	19	3223	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A	SENP6_ENST00000447266.2_Silent_p.A868A|SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358000													66	88					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458000										HNSCC(33;0.089)			13	18					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553534	113553534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113553534C>A	ENST00000546530.1	-	11	1194	c.909G>T	c.(907-909)caG>caT	p.Q303H	RASAL1_ENST00000548055.1_Missense_Mutation_p.Q303H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q303H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q303H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	303	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCAAGGTCCTGGCGGCAGT	0.637000													11	43					4.3838e-07	5.12524e-07	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45454097	45454097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45454097G>T	ENST00000321429.4	+	31	4425	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1340W|DUOX1_ENST00000561166.1_Missense_Mutation_p.G986W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1340	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGGCAGCAGGGCCCTGGAC	0.632000													6	18					0.0215528	0.0221649	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37865570	37865570	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37865570G>T	ENST00000406381.2	+	6	859		c.e6-1		ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCACCCCACAGAGATCTTGAA	0.537000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	109					3.59834e-05	4.01776e-05	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101086606	101086606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101086606C>A	ENST00000369162.2	-	25	4337	c.3993G>T	c.(3991-3993)caG>caT	p.Q1331H		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATTTGTGTCTGTACAGGGT	0.408000													8	178					1.12685e-05	1.27857e-05	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101588872	101588872	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101588872C>A	ENST00000536262.2	-	4	1096		c.e4+1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGACGTACCAGTGTGCAG	0.428000													10	9					0.00829132	0.00869385	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6541014	6541014	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541014A>G	ENST00000254579.6	+	8	2141	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	DNHD1_ENST00000354685.3_Missense_Mutation_p.Y526C|DNHD1_ENST00000527990.2_Missense_Mutation_p.Y526C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	526					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGTTGACTACATGATTTGT	0.517000													34	42					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90934099	90934099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90934099C>T	ENST00000268182.5	+	2	273	c.149C>T	c.(148-150)gCg>gTg	p.A50V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	50	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGAAGAAGCGAAGAGGTAA	0.423000													26	45					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13514789	13514789	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13514789C>T	ENST00000337743.4	-	9	796		c.e9-1		TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTCATTTTCCTGCAGAGCAA	0.478000													9	64					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247887	179247887	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179247887C>A	ENST00000190611.4	+	17	2134	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	OSBPL6_ENST00000315022.2_Silent_p.V590V|OSBPL6_ENST00000409045.3_Silent_p.V555V|OSBPL6_ENST00000392505.2_Silent_p.V611V|OSBPL6_ENST00000409631.1_Silent_p.V550V|OSBPL6_ENST00000359685.3_Silent_p.V550V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	586					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTCTAAAGTCTCTATGCCTG	0.507000													4	30					0.00909568	0.00947522	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448756	89448756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448756G>A	ENST00000399794.2	-	3	1469	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R252C|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	252							nucleotide binding|RNA binding										TAGTCATCACGTGAACTGGAA	0.433000													133	74					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677491	107677491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107677491C>A	ENST00000525071.1	-	7	1114	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.G129*|SLC35F2_ENST00000265836.7_Nonsense_Mutation_p.G28*|SLC35F2_ENST00000525815.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.G176*			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	176					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACCATGGTTCCTACACCCAAC	0.458000													27	40					2.12542e-12	2.67336e-12	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43067672	43067672	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067672C>A	ENST00000267890.6	-	13	1767	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	553					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTCCACAATCACCCATTCTT	0.468000													29	50					1.68575e-08	2.02034e-08	1	1	0
USP21	27005	broad.mit.edu	37	1	161130759	161130759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161130759G>A	ENST00000368002.3	+	3	706	c.329G>A	c.(328-330)cGt>cAt	p.R110H	USP21_ENST00000368001.1_Missense_Mutation_p.R110H|USP21_ENST00000289865.8_Missense_Mutation_p.R110H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	110					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACTTAGCCCGTTCCAAGTCT	0.642000													22	27					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24859935	24859935	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24859935C>A	ENST00000379068.3	+	33	3946	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	POLA1_ENST00000379059.3_Silent_p.V1295V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1295					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGATAATGTCTTTGATGGTT	0.423000													13	96					0.0135373	0.0140872	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48594665	48594665	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48594665G>A	ENST00000262384.3	-	2	2125	c.1889_splice	c.e2+1	p.T630_splice	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	630					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343000													49	87					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22935286	22935286	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22935286G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							gatttaacatgcatgaattag	0.383000													8	66					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413113	116413113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413113C>T	ENST00000281928.3	-	25	5800	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1865					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTACTCCTCCGTGACCTAAC	0.403000													5	51					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160237602C>T	ENST00000275275.5	+	14	1226	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000													31	54					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45571854	45571854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45571854G>A	ENST00000355765.6	+	5	862	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	231					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATATGATCGTATTCTTGGT	0.388000													82	107					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14462920	14462920	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14462920G>T	ENST00000344204.4	+	36	5577	c.5553G>T	c.(5551-5553)ggG>ggT	p.G1851G	TRIO_ENST00000537187.1_Silent_p.G1851G|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCCTCGGGGATGCAGAGCT	0.612000													7	98					5.18039e-06	5.91835e-06	1	1	0
MYH7	4625	broad.mit.edu	37	14	23893260	23893260	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893260C>T	ENST00000355349.3	-	23	2940	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	926					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCATCCTCCAGCCTCTCGT	0.517000													36	52					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81429027	81429027	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81429027C>A	ENST00000286732.4	+	3	413	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	110										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TAGAGGTACCCTGTGGCCTGA	0.433000													22	34					1.10513e-12	1.39297e-12	1	1	0
RBP1	5947	broad.mit.edu	37	3	139257633	139257633	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139257633C>T	ENST00000483943.2	-	2	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R143H|RBP1_ENST00000232219.2_Missense_Mutation_p.R143H	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	81						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CATGCACTTGCGGTCATCTAT	0.572000													21	58					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28209217	28209217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28209217A>G	ENST00000373921.3	+	4	1386	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D332G	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		GTGGCCAAGGACACCAGCCAC	0.597000													14	31					0	0	1	0	0
RP11-69E11.4	0	broad.mit.edu	37	1	40011472	40011472	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40011472C>A	ENST00000440190.1	-	0	387																											TGTTCCCAATCTTGATGTCCA	0.562000													9	12					2.17888e-05	2.45068e-05	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20681161	20681161	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20681161C>A	ENST00000219151.4	-	0	967				ACSM1_ENST00000520010.1_Missense_Mutation_p.K300N|ACSM1_ENST00000307493.4_Missense_Mutation_p.K300N			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTATGATGACCTTGGTGTCAA	0.433000													7	74					0.00198382	0.00210581	1	1	0
GPR61	0	broad.mit.edu	37	1	110086628	110086628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086628G>T	ENST00000527748.1	+	2	1667	c.984G>T	c.(982-984)tgG>tgT	p.W328C		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCTGGATTGGCTACT	0.522000													51	139					4.10029e-35	5.51555e-35	1	1	0
HSPA1L	0	broad.mit.edu	37	6	31778626	31778626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778626G>T	ENST00000375654.4	-	2	1313	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A375D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	375					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTACCGCAGCCCCATATGC	0.597000													10	52					1.58986e-06	1.84011e-06	1	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2399191	2399191	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2399191G>T	ENST00000332578.3	+	3	412	c.412_splice	c.e3+1	p.G138_splice		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	138					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCTCACAGGTGAGTGGGC	0.587000													12	11					0.00244969	0.00259885	1	1	0
HLA-DRA	3122	broad.mit.edu	37	6	32410377	32410377	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32410377T>A	ENST00000395388.2	+	2	344	c.235T>A	c.(235-237)Ttt>Att	p.F79I	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.F79I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	79	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ATTTGCCAGCTTTGAGGCTCA	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				34	67					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013420	6013420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6013420C>T	ENST00000259569.5	-	1	2198	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	730					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGCTGCTGCCACTCGAACA	0.428000													35	54					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54163276	54163276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54163276C>T	ENST00000404125.1	-	7	837	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	261					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTAGCCAATCGAGCAAAGAG	0.358000													36	69					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574798	82574798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82574798C>T	ENST00000339465.5	+	3	661	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.L183F	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	198										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACTGCAAAACTCTGCAGACC	0.463000													23	30					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23428437	23428437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23428437A>G	ENST00000307149.5	-	9	1328	c.1143T>C	c.(1141-1143)caT>caC	p.H381H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	381					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCACTTCCCCATGCTCCTGGT	0.493000													4	41					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34900595	34900595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34900595G>A	ENST00000381831.3	-	10	1207	c.944C>T	c.(943-945)tCc>tTc	p.S315F	GART_ENST00000381815.4_Missense_Mutation_p.S315F|GART_ENST00000381839.3_Missense_Mutation_p.S315F|GART_ENST00000361093.5_Missense_Mutation_p.S315F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	315	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATCTAAGGTGGACTGAATCAC	0.423000													23	43					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51695870	51695870	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51695870C>A	ENST00000267012.4	-	5	403	c.342G>T	c.(340-342)gaG>gaT	p.E114D	BIN2_ENST00000544402.1_Missense_Mutation_p.E88D|BIN2_ENST00000604560.1_Missense_Mutation_p.E87D|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	114	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAGTTTCTCCTCGTAGTCTT	0.473000													4	63					0.00024832	0.0002712	1	1	0
ZNF765	91661	broad.mit.edu	37	19	53911139	53911139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53911139G>A	ENST00000396408.3	+	4	448	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGCCATGAAGCACTCATGAC	0.353000													25	44					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39483117	39483117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39483117C>T	ENST00000407997.3	+	7	1483	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R376W	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGGAGGCTGCGGGCCATTCT	0.632000													11	41					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104414976	104414976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104414976C>T	ENST00000302424.6	+	3	928	c.806C>T	c.(805-807)gCg>gTg	p.A269V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	269						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAGCGCAGGCGCTGCACCTC	0.622000													32	46					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19954923	19954923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19954923C>A	ENST00000396085.1	+	7	1494	c.1133C>A	c.(1132-1134)cCt>cAt	p.P378H	NAV2_ENST00000396087.3_Missense_Mutation_p.P401H|NAV2_ENST00000540292.1_Missense_Mutation_p.P332H|NAV2_ENST00000527559.2_Missense_Mutation_p.P330H|NAV2_ENST00000360655.4_Missense_Mutation_p.P314H|NAV2_ENST00000349880.4_Missense_Mutation_p.P378H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	401						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCGGTCAAGCCTCCTGGGCCT	0.597000													14	193					6.31663e-08	7.49729e-08	1	1	0
TM9SF4	9777	broad.mit.edu	37	20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	rs139891092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30729426G>A	ENST00000217315.5	+	4	645	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	TM9SF4_ENST00000398022.2_Missense_Mutation_p.R119Q			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577000													38	54					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748528	125748528	+	Silent	SNP	C	C	T	rs151226317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125748528C>T	ENST00000373647.4	+	4	554	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	140					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CACCAGTGGCCGATGAGGACA	0.413000													24	46					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68225673	68225673	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68225673A>G	ENST00000349223.5	+	9	3325	c.3101A>G	c.(3100-3102)gAt>gGt	p.D1034G	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.D1034G|NFATC3_ENST00000329524.4_Missense_Mutation_p.D1034G|NFATC3_ENST00000575270.1_Missense_Mutation_p.D1034G	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1034					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACTTTAGATGATGGTAAG	0.418000													15	154					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828946	125828946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125828946C>A	ENST00000393434.2	-	20	2537	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*	ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E740*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.E629*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E730*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577000													4	47					0.217242	0.218821	1	1	0
SOCS4	122809	broad.mit.edu	37	14	55510641	55510641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55510641C>T	ENST00000395472.2	+	2	1214	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SOCS4_ENST00000339298.2_Silent_p.Y294Y|SOCS4_ENST00000555846.1_Silent_p.Y294Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	294	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGGATAAATACGCAGCCGAAG	0.428000													32	61					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256710	171256710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171256710G>T	ENST00000334231.6	+	17	1831	c.1831G>T	c.(1831-1833)Gtg>Ttg	p.V611L	MYO3B_ENST00000409044.3_Missense_Mutation_p.V602L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V602L|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	602	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGTGCACTCAGTGTACAGAAT	0.413000													60	146					3.8688e-20	5.07229e-20	1	1	0
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55684513C>T	ENST00000370830.3	-	2	1321	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338000													12	28					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140531705	140531705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140531705C>T	ENST00000231136.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687000													16	23					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946361	38946361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38946361C>T	ENST00000355481.4	+	16	1892	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RYR1_ENST00000359596.3_Silent_p.S587S|RYR1_ENST00000360985.3_Silent_p.S587S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	587	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCATCATCTCCCTCCTGGACA	0.572000													8	23					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51395449	51395449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51395449C>T	ENST00000266037.9	+	46	4848	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1609	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGAAATGCGGCCTCTGCA	0.498000													39	52					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259847	88259847	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88259847T>C	ENST00000298767.5	-	3	1625	c.1153A>G	c.(1153-1155)Act>Gct	p.T385A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	385	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGGATGCAGTGAACTCATCC	0.418000													23	33					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348000													6	77					0.000157383	0.00017284	1	1	0
C11orf57	55216	broad.mit.edu	37	11	111953686	111953686	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111953686A>G	ENST00000532163.1	+	6	1551	c.785A>G	c.(784-786)gAg>gGg	p.E262G	C11orf57_ENST00000393047.3_Missense_Mutation_p.E291G|C11orf57_ENST00000280352.9_Missense_Mutation_p.E290G|C11orf57_ENST00000420986.2_Missense_Mutation_p.E290G			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	290										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAGAGCTCAGAGGATGACTAA	0.433000													12	30					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758203	99758203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99758203C>T	ENST00000360039.4	-	4	1201	c.809G>A	c.(808-810)cGc>cAc	p.R270H	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208H|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A169T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270H|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A169T	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	270					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATCTGGCTGCGATGATCAGT	0.557000													51	151					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89655141	89655141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89655141A>G	ENST00000268720.5	+	12	1341	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CPNE7_ENST00000319518.8_Missense_Mutation_p.Y329C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	404	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCCTGCACTACATCAACCCC	0.647000													9	27					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39510268	39510268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39510268C>T	ENST00000316423.6	-	7	1166	c.824G>A	c.(823-825)aGc>aAc	p.S275N	UGDH_ENST00000506179.1_Missense_Mutation_p.S275N|UGDH_ENST00000501493.2_Missense_Mutation_p.S208N|UGDH_ENST00000507089.1_Missense_Mutation_p.S178N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	275					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGGAAACAGCTCCCACCAAA	0.358000													22	36					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766687	38766687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38766687G>A	ENST00000449082.2	-	17	3205	c.3206C>T	c.(3205-3207)tCt>tTt	p.S1069F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1069					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGAACAGACTCATCTTT	0.602000													11	21					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714325G>T	ENST00000605938.1	-	9	2162	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	ATG9B_ENST00000377974.2_Missense_Mutation_p.S696Y|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.S182Y	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592000													13	14					9.31168e-06	1.06029e-05	1	1	0
PDPR	55066	broad.mit.edu	37	16	70177557	70177557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70177557C>T	ENST00000288050.4	+	14	2707	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	PDPR_ENST00000398122.3_Missense_Mutation_p.R484C|PDPR_ENST00000568530.1_Missense_Mutation_p.R584C|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	584					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTGAACAAGCGCAGGTGAGA	0.557000													4	30					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933326	2933326	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2933326G>A	ENST00000228799.2	+	12	1450	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	ITFG2_ENST00000542548.1_Silent_p.Q325Q|ITFG2_ENST00000419778.2_Silent_p.Q260Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	437										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCACCACAGTGTGCTCCCT	0.567000													4	45					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32429869	32429869	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32429869C>A	ENST00000357033.4	-	30	4439	c.4233_splice	c.e30+1	p.Q1411_splice	DMD_ENST00000378677.2_Splice_Site_p.Q1407_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1411					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTACTTGCCTGGGCTTCCT	0.398000													4	59					0.000602214	0.000649039	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65366003	65366003	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65366003C>T	ENST00000309100.3	-	10	2788	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	MAP3K11_ENST00000530153.1_Missense_Mutation_p.R511Q|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R184Q	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	768	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGAGGGCCGAGGTCGGCT	0.682000													9	11					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38099780	38099780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099780G>A	ENST00000397166.2	+	7	1250	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	242					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358000													16	29					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555163	44555163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44555163C>T	ENST00000330682.2	-	1	1286	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	351	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGCCGAGGGCGTCCGGATTG	0.652000													14	555					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464275	5464275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464275A>G	ENST00000296564.7	+	13	5050	c.4828A>G	c.(4828-4830)Aca>Gca	p.T1610A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1610										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATGCTGATACATCCACTCC	0.448000													5	54					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515137	98515137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515137G>A	ENST00000359863.4	+	20	2666	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	TRRAP_ENST00000355540.3_Silent_p.S819S|TRRAP_ENST00000446306.3_Silent_p.S818S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	819					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGAGCTCGCTTTTGCCGT	0.572000													19	70					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396346	125396346	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125396346G>T	ENST00000536769.1	-	1	3548	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	UBC_ENST00000339647.5_Missense_Mutation_p.L658M|UBC_ENST00000546120.1_Missense_Mutation_p.L582M|UBC_ENST00000538617.1_Missense_Mutation_p.L278M			P0CG48	UBC_HUMAN	ubiquitin C	658	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCATCTTCCAGCTGTTTCCCA	0.517000													6	146					0.0215528	0.0221649	1	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105885808	105885808	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105885808T>C	ENST00000393359.2	-	11	2753	c.2327A>G	c.(2326-2328)gAc>gGc	p.D776G	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D776G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	776					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGATGCTGTCCCTCATGGC	0.602000													10	17					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839537	19839537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19839537G>T	ENST00000405640.1	-	2	916	c.248C>A	c.(247-249)gCt>gAt	p.A83D	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.A83D|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.A83D|GNB1L_ENST00000460402.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	83										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CATGTGCCCAGCTAGGGGACC	0.632000													6	60					2.7689e-08	3.31013e-08	1	1	0
SVIL	6840	broad.mit.edu	37	10	29818634	29818634	+	Splice_Site	SNP	G	G	A	rs146446036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29818634G>A	ENST00000375398.2	-	14	2695	c.2246_splice	c.e14+1	p.T749_splice	SVIL_ENST00000355867.4_Splice_Site_p.T749_splice|SVIL_ENST00000375400.3_Splice_Site_p.T355_splice			O95425	SVIL_HUMAN	supervillin	749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCACTTACGTGGCTGCGAT	0.493000													6	28					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063057	41063057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41063057C>A	ENST00000253801.2	+	5	767	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	230					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTCAAGGGACTGGGTGTAGA	0.512000													18	44					5.03518e-11	6.25324e-11	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140685395	140685395	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140685395C>T	ENST00000460843.1	+	16	2505	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.I795I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	826					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGTACCTCATCAAGGCTGGGG	0.527000													7	68					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62786882	62786882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62786882T>G	ENST00000280377.5	+	19	2528	c.2470T>G	c.(2470-2472)Tta>Gta	p.L824V	USP15_ENST00000353364.3_Missense_Mutation_p.L795V|USP15_ENST00000393654.3_Missense_Mutation_p.L799V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	824					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAATTGGATTTATGGTCCCT	0.378000													11	77					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947320	144947320	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947320C>T	ENST00000525985.1	-	2	173	c.102G>A	c.(100-102)acG>acA	p.T34T				P58107	EPIPL_HUMAN	epiplakin 1	34						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTGGGGGGCGTGCCGGCTC	0.687000													14	24					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53293758	53293758	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53293758G>T	ENST00000552551.1	-	6	1214	c.782C>A	c.(781-783)gCt>gAt	p.A261D	KRT8_ENST00000546897.1_Missense_Mutation_p.A261D|KRT8_ENST00000293308.6_Missense_Mutation_p.A261D|KRT8_ENST00000552150.1_Missense_Mutation_p.A289D			P05787	K2C8_HUMAN	keratin 8	261	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGACCTCAGCAATGATGCT	0.592000													11	24					1.49906e-05	1.69169e-05	1	1	0
NAV2	89797	broad.mit.edu	37	11	20124899	20124899	+	Silent	SNP	C	C	T	rs138671489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20124899C>T	ENST00000396085.1	+	34	6886	c.6525C>T	c.(6523-6525)caC>caT	p.H2175H	NAV2_ENST00000396087.3_Silent_p.H2231H|NAV2_ENST00000540292.1_Silent_p.H2162H|NAV2_ENST00000533917.1_Silent_p.H1236H|NAV2_ENST00000527559.2_Silent_p.H2160H|NAV2_ENST00000360655.4_Silent_p.H2108H|NAV2_ENST00000349880.4_Silent_p.H2172H|NAV2_ENST00000311043.8_Silent_p.H1236H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2231						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTACACCACGTGAGCTCTC	0.542000													21	49					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89008934	89008934	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89008934T>G	ENST00000312475.4	-	2	340	c.299A>C	c.(298-300)aAg>aCg	p.K100T		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	100						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCTTTCTTCTTTGCCAGTCG	0.423000													11	116					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045919	112045919	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045919T>G	ENST00000241356.4	-	1	463	c.58A>C	c.(58-60)Att>Ctt	p.I20L	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.I20L	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	20					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAATGAAAATTTCCATGGTG	0.537000													5	18					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508820	219508820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508820G>T	ENST00000411696.2	-	7	3198	c.2419C>A	c.(2419-2421)Cta>Ata	p.L807I	ZNF142_ENST00000449707.1_Missense_Mutation_p.L807I			P52746	ZN142_HUMAN	zinc finger protein 142	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCTCCTTAGGGCCTTGAGT	0.567000													61	124					7.59065e-32	1.01804e-31	1	1	0
ACOX3	8310	broad.mit.edu	37	4	8407741	8407741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8407741C>T	ENST00000356406.5	-	7	794	c.717G>A	c.(715-717)atG>atA	p.M239I	ACOX3_ENST00000503233.1_Missense_Mutation_p.M239I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M239I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	239					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCACTCCAGGCATGGGAAGAA	0.488000													60	87					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107707029	107707029	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107707029A>T	ENST00000388781.3	-	20	2546	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	LAMB4_ENST00000388780.3_Silent_p.P821P|LAMB4_ENST00000205386.4_Silent_p.P821P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	821	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATCCTTGAGGATGGCAGT	0.537000													4	24					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959491	53959491	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959491C>A	ENST00000454407.1	+	0	2183							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAGAACCCTTACAAATGT	0.383000													38	50					6.05902e-23	8.00884e-23	1	1	0
SMAD9	4093	broad.mit.edu	37	13	37446850	37446850	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37446850G>A	ENST00000379826.4	-	3	957	c.615C>T	c.(613-615)agC>agT	p.S205S	SMAD9_ENST00000350148.5_Silent_p.S205S|SMAD9_ENST00000399275.2_Silent_p.S205S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	205					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTGAGGGTAGCTGGCCGTGC	0.577000													20	25					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534792	26534792	+	Missense_Mutation	SNP	C	C	T	rs147071305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26534792C>T	ENST00000333478.6	-	8	1789	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	GPR113_ENST00000541401.1_Missense_Mutation_p.A205T|GPR113_ENST00000421160.2_Missense_Mutation_p.A533T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A602T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAAGGCGAAGGGGTGG	0.642000													4	35					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975415	51975415	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51975415G>T	ENST00000220478.3	+	4	584		c.e4-1		SCG3_ENST00000542355.2_Splice_Site	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATTCTTCCAGAAAACAAGCC	0.343000													21	228					7.87624e-14	1.00187e-13	1	1	0
FLNA	0	broad.mit.edu	37	X	153583193	153583193	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153583193C>T	ENST00000422373.1	-	30	5441	c.5193_splice	c.e30+1	p.T1731_splice	FLNA_ENST00000344736.4_Splice_Site_p.T1731_splice|FLNA_ENST00000360319.4_Splice_Site_p.T1731_splice|FLNA_ENST00000369850.3_Splice_Site_p.T1739_splice|FLNA_ENST00000369856.3_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1739			Missing (in TOD).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCCTCACCGTCACTTGGA	0.637000													9	21					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113211391	113211391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113211391G>T	ENST00000393020.1	+	11	1237	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E278*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E278*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E284*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443000													6	62					0.0381472	0.0390147	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65402798	65402798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65402798G>A	ENST00000355703.3	+	31	5602	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGCATGGCGCAGCGCCATC	0.612000													3	3					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371558	33371558	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33371558C>A	ENST00000428849.2	+	6	858	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	136					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACGTCCAGCCTGGGACTTAA	0.502000													26	40					4.59853e-10	5.63411e-10	1	1	0
PPFIA4	8497	broad.mit.edu	37	1	203029425	203029425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203029425G>A	ENST00000367240.2	+	21	3128	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	PPFIA4_ENST00000272198.6_Silent_p.S382S|PPFIA4_ENST00000295706.4_Silent_p.S382S|PPFIA4_ENST00000447715.2_Silent_p.S866S|PPFIA4_ENST00000599966.1_Silent_p.S382S|PPFIA4_ENST00000414050.2_Silent_p.S595S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	382					cell communication	cell surface|cytoplasm	protein binding	p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632000													29	42					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8428253	8428253	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:8428253G>T	ENST00000379660.4	-	4	785	c.336C>A	c.(334-336)ggC>ggA	p.G112G	SLC35B3_ENST00000426876.1_Silent_p.G178G|SLC35B3_ENST00000339306.5_Silent_p.G112G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	112					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAGGTACCAGCCACAGGACT	0.378000													13	105					3.27435e-08	3.90559e-08	1	1	0
PLCZ1	89869	broad.mit.edu	37	12	18837124	18837124	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18837124A>C	ENST00000447925.2	-	14	1944	c.1675T>G	c.(1675-1677)Tta>Gta	p.L559V	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L366V|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L368V|PLCZ1_ENST00000534932.1_Missense_Mutation_p.L42V|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L561V|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L343V	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	561	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTGCTATTAAACCTTGACCT	0.333000													23	35					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105807859	105807859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105807859G>T	ENST00000353479.5	-	30	2521	c.2231C>A	c.(2230-2232)cCt>cAt	p.P744H	MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P744H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	744	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGCCAGCAGGACCTGGTAA	0.582000													12	239					2.27111e-07	2.66951e-07	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63113847	63113847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113847C>T	ENST00000251157.5	-	6	695	c.662G>A	c.(661-663)cGt>cAt	p.R221H	DOCK7_ENST00000340370.5_Missense_Mutation_p.R221H|DOCK7_ENST00000404627.2_Missense_Mutation_p.R221H	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	221					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCATTCTGACGGTCTATTTC	0.388000													27	83					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30115291	30115291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30115291C>A	ENST00000335574.5	+	2	312	c.188C>A	c.(187-189)gCt>gAt	p.A63D	HM13_ENST00000376127.3_Missense_Mutation_p.A63D|HM13_ENST00000340852.5_Missense_Mutation_p.A63D|HM13_ENST00000398174.3_Missense_Mutation_p.A63D	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	63					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCTAGAATGCTTCAGACATG	0.527000													10	77					0.000673444	0.000724755	1	1	0
SDSL	113675	broad.mit.edu	37	12	113873266	113873266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113873266G>T	ENST00000403593.4	+	6	838	c.576G>T	c.(574-576)caG>caT	p.Q192H	SDSL_ENST00000345635.4_Missense_Mutation_p.Q192H			Q96GA7	SDSL_HUMAN	serine dehydratase-like	192					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGGCTGGCAGCATGTACCCA	0.647000													4	55					0.150653	0.152692	1	1	0
PCDP1	0	broad.mit.edu	37	2	120388383	120388383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120388383C>T	ENST00000602047.1	+	20	2134	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	PCDP1_ENST00000413369.3_Missense_Mutation_p.S627F			Q4G0U5	PCDP1_HUMAN		627						cilium	calmodulin binding					Colorectal(110;0.196)					AAACAGGACTCCACAACTCAG	0.458000													46	74					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18066240	18066240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18066240G>A	ENST00000327451.5	+	7	887	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.V117I|SLC25A18_ENST00000497401.1_3'UTR	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	117						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GATGTGCCAGGTCGTGGTGAC	0.607000													35	39					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47271908	47271908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:47271908G>T	ENST00000320640.6	-	13	1570	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.L335M	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	448						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTAGAACACAGACCACTAAGA	0.274000													4	7					0.000602214	0.000649039	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996049	90996049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90996049G>A	ENST00000268182.5	+	12	1329	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	402					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCCAGAAGGGTGTTGCTGAG	0.512000													34	58					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141039454	141039454	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141039454C>T	ENST00000239440.4	-	22	3224	c.3159G>A	c.(3157-3159)cgG>cgA	p.R1053R	ARAP3_ENST00000508305.1_Silent_p.R884R|ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.R1053R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557000													6	8					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733454	37733454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37733454G>T	ENST00000589413.1	+	8	899	c.316G>T	c.(316-318)Gga>Tga	p.G106*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.G106*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.G106*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATAATGGGACTTACAAA	0.363000													32	90					6.02846e-25	8.00719e-25	1	1	0
SMARCA5	8467	broad.mit.edu	37	4	144445597	144445597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144445597C>T	ENST00000283131.3	+	4	959	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	166					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGTTTGCACTCGATTTGAA	0.358000													16	39					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91033202	91033202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91033202G>A	ENST00000522161.1	+	7	1139	c.456G>A	c.(454-456)tgG>tgA	p.W152*	DECR1_ENST00000220764.2_Nonsense_Mutation_p.W161*|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	161					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATGCTTGGAAAACCATAA	0.333000													30	37					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622267	64622267	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64622267C>T	ENST00000320631.3	-	5	1397	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	EHD1_ENST00000359393.2_Silent_p.T381T|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTCATCCACCGTGTCCAGCA	0.637000													15	276					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408871	45408871	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45408871T>C	ENST00000323030.5	+	4	783	c.498T>C	c.(496-498)ccT>ccC	p.P166P		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	166					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGAGTAGCCCTTGCGGCCTGT	0.617000													6	40					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29528491	29528491	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29528491C>A	ENST00000373791.3	-	6	864	c.492G>T	c.(490-492)gaG>gaT	p.E164D	MECR_ENST00000263702.6_Missense_Mutation_p.E240D	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	240					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCTTAGCTCCTCTTCTGTGA	0.493000													22	293					4.59853e-10	5.63411e-10	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48653030	48653030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48653030C>A	ENST00000352832.5	+	8	1639	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	CACNA1G_ENST00000515765.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L423M	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	423					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCCAGCACCCTGGCTAGCTT	0.617000													12	11					0.00010058	0.000111121	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	97002275	97002275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97002275G>A	ENST00000216277.8	+	11	1189	c.969G>A	c.(967-969)caG>caA	p.Q323Q	PAPOLA_ENST00000392990.2_Silent_p.Q323Q	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	323					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCACAACAGAACTCCACGT	0.403000													28	57					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809106	43809106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43809106C>T	ENST00000291532.3	-	4	1209	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.C169Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.C83Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	85	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCTCGATACACTTAAAGGA	0.522000													9	24					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583691	47583691	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47583691C>T	ENST00000172229.3	+	3	364	c.239C>T	c.(238-240)aCc>aTc	p.T80I	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	80					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GTGAGCGCGACCGAGCCGTGC	0.682000													5	11					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033097	30033097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30033097C>T	ENST00000328224.6	-	2	2362	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	377						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATACAGACTGTTTCCACG	0.453000													9	64					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925236	66925236	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66925236A>C	ENST00000269080.2	-	8	1216	c.1079T>G	c.(1078-1080)aTt>aGt	p.I360S	ABCA8_ENST00000586539.1_Missense_Mutation_p.I360S|ABCA8_ENST00000430352.2_Missense_Mutation_p.I360S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	360						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGCTTAAAATCCACTCCAA	0.493000													14	19					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44091870	44091870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44091870C>A	ENST00000420999.1	-	10	1560	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	493	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAAGACTTCTTGTCCAGGC	0.383000													6	8					0.00198382	0.00210581	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35921616	35921616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35921616G>A	ENST00000325722.3	-	10	1888	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	552	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCCTACCTGCATCTCCACC	0.483000													12	285					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296256	153296256	+	Silent	SNP	G	G	A	rs62643610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296256G>A	ENST00000303391.6	-	4	1272	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	MECP2_ENST00000453960.2_Silent_p.S353S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	341					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCCAGGGCTCTTACAGG	0.627000													33	45					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337037	57337037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57337037C>T	ENST00000374900.4	+	3	407	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTGAGGAAGCGATGAAGGAG	0.383000										HNSCC(52;0.14)			18	32					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677079	73677079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677079C>T	ENST00000264448.6	+	8	3533	c.3422C>T	c.(3421-3423)aCt>aTt	p.T1141I	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1099I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1141I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1141	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAACCTCAACTTCCTACTCA	0.478000													64	99					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579960	1579960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1579960C>T	ENST00000572621.1	-	15	2492	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PRPF8_ENST00000304992.6_Missense_Mutation_p.V743M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	743						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.V743M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGGCCTTCACGTATCGAAGG	0.537000													21	300					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1800986	1800986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1800986C>A	ENST00000340107.4	+	3	371	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	FGFR3_ENST00000352904.1_Missense_Mutation_p.P39T|FGFR3_ENST00000440486.2_Missense_Mutation_p.P39T|FGFR3_ENST00000260795.2_Missense_Mutation_p.P39T|FGFR3_ENST00000412135.2_Missense_Mutation_p.P39T|FGFR3_ENST00000481110.2_Missense_Mutation_p.P39T	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	39	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACAGAAGTCCCGGGCCCAGA	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	84					8.12818e-05	8.99451e-05	1	1	0
UBL4B	164153	broad.mit.edu	37	1	110655424	110655424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110655424C>A	ENST00000334179.3	+	1	363	c.268C>A	c.(268-270)Ctg>Atg	p.L90M		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	90						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GACCCAGCCCCTGTGGCACCA	0.592000													9	89					2.27111e-07	2.66951e-07	1	1	0
CADM1	23705	broad.mit.edu	37	11	115111118	115111118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111118C>T	ENST00000542447.2	-	2	275	c.147G>A	c.(145-147)acG>acA	p.T49T	CADM1_ENST00000536727.1_Silent_p.T49T|CADM1_ENST00000537058.1_Silent_p.T49T|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.T49T|CADM1_ENST00000331581.6_Silent_p.T49T	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	49	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACGTCTTTCGTAAACAGAT	0.428000													17	23					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408000													17	28					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911338	79911338	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79911338G>T	ENST00000438737.2	-	19	3072	c.2632C>A	c.(2632-2634)Cga>Aga	p.R878R	RBM26_ENST00000438724.1_Silent_p.R854R|RBM26_ENST00000267229.7_Silent_p.R851R			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	878					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCACACCTCGCCCTCGCCCT	0.562000													10	22					1.08611e-07	1.2824e-07	1	1	0
H6PD	9563	broad.mit.edu	37	1	9324806	9324806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9324806C>T	ENST00000377403.2	+	5	2556	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	H6PD_ENST00000602477.1_Missense_Mutation_p.R763C	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	752	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGGATGAAGCGTGAGATCAC	0.647000													7	18					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135204907	135204907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135204907G>A	ENST00000278060.5	+	7	1567	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|RP11-108K14.8_ENST00000468317.2_Silent_p.P34P|PAOX_ENST00000357296.3_Silent_p.P442P|PAOX_ENST00000480071.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	633					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662000													24	44					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47329192	47329192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47329192G>T	ENST00000285093.10	-	2	523	c.48C>A	c.(46-48)ccC>ccA	p.P16P	RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Silent_p.P13P	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGCTCCAAAGGGCGTTCGCT	0.448000													10	68					1.58986e-06	1.84011e-06	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30735405	30735405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30735405G>A	ENST00000262518.4	+	25	5045	c.4660G>A	c.(4660-4662)Gct>Act	p.A1554T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1396T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1492T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1554	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTTCGGCTCTGGCCAG	0.587000													19	29					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875328	27875328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27875328C>T	ENST00000374011.2	-	6	4267	c.3299G>A	c.(3298-3300)cGg>cAg	p.R1100Q	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R1100Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1100							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGCAAACTGCCGACAGTTCTC	0.627000													16	25					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484913	43484913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43484913C>T	ENST00000372389.3	+	1	154	c.66C>T	c.(64-66)cgC>cgT	p.R22R	POLR1C_ENST00000304004.3_Silent_p.R22R|POLR1C_ENST00000372344.2_Silent_p.R22R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	22					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGGGGTTCGCAATGTAAGCC	0.592000													5	104					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845057	101845057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101845057C>T	ENST00000360264.3	+	18	2533	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A725V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A669V|CUX1_ENST00000550008.2_Missense_Mutation_p.A771V|CUX1_ENST00000549414.2_Missense_Mutation_p.A805V|CUX1_ENST00000292535.7_Missense_Mutation_p.A827V|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	827					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGGTGGAGCGCGGTGCAGCCG	0.662000													18	18					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538092	58538092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538092G>T	ENST00000394282.4	+	5	725	c.318G>T	c.(316-318)gaG>gaT	p.E106D	NDRG4_ENST00000258187.5_Missense_Mutation_p.E86D|NDRG4_ENST00000566192.1_Missense_Mutation_p.E54D|NDRG4_ENST00000563799.1_Missense_Mutation_p.E72D|NDRG4_ENST00000562999.1_Missense_Mutation_p.E54D|NDRG4_ENST00000394279.2_Missense_Mutation_p.E86D|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000356752.4_Missense_Mutation_p.E84D|NDRG4_ENST00000570248.1_Missense_Mutation_p.E54D|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.E72D	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	54					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAACTTCGAGGACATGCAGG	0.577000													9	118					1.76689e-08	2.11513e-08	1	1	0
GSN	2934	broad.mit.edu	37	9	124079496	124079496	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124079496G>A	ENST00000373823.3	+	15	1791	c.886_splice	c.e15+1	p.G296_splice	GSN_ENST00000436847.1_Splice_Site_p.G307_splice|GSN_ENST00000449733.1_Splice_Site_p.G296_splice|GSN_ENST00000373807.1_Splice_Site_p.G78_splice|GSN_ENST00000373818.4_Splice_Site_p.G347_splice|GSN_ENST00000394353.2_Splice_Site_p.G307_splice|GSN_ENST00000341272.2_Splice_Site_p.G296_splice|GSN_ENST00000373808.2_Splice_Site_p.G296_splice|GSN_ENST00000412819.1_Splice_Site_p.G296_splice|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Splice_Site_p.G304_splice			P06396	GELS_HUMAN	gelsolin	347					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGGAAAGGTACTGGAGA	0.577000													47	96					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451054	110451054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451054G>T	ENST00000260283.4	-	16	2900	c.2616C>A	c.(2614-2616)agC>agA	p.S872R	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S846R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S849R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S415R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S846R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGCTTCACAGCTGGTTTTAT	0.463000													9	117					3.09899e-07	3.63227e-07	1	1	0
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572000													9	105					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958909	51958909	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958909A>C	ENST00000321424.3	-	4	880	c.814T>G	c.(814-816)Tca>Gca	p.S272A	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S163A|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S179A	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	272	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAGGACTGAAAGAGATGAG	0.562000													4	41					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139388	145139388	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139388C>T	ENST00000355091.4	+	7	1007	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	GPAA1_ENST00000361036.6_Missense_Mutation_p.R236W|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	296					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTTCTGCGGCAGGCCTC	0.627000													10	24					0	0	1	0	0
PSMA3	5684	broad.mit.edu	37	14	58737155	58737155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58737155G>A	ENST00000216455.4	+	9	700	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PSMA3_ENST00000412908.2_Missense_Mutation_p.E197K|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.E129K	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTACATGACGAAGTTAAGGA	0.348000													35	76					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39948334	39948334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39948334G>T	ENST00000599117.1	+	5	628	c.261G>T	c.(259-261)gaG>gaT	p.E87D	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E87D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E87D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	87	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGTATGAGGACGAGGACC	0.537000													7	76					0.000157383	0.00017284	1	1	0
BNC2	54796	broad.mit.edu	37	9	16727882	16727882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:16727882G>A	ENST00000380672.4	-	3	300	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BNC2_ENST00000380666.2_Silent_p.F81F|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTGGTTCCGAACTGCATGG	0.468000													54	87					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741146	145741146	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145741146A>G	ENST00000428558.2	-	6	1300		c.e6+1		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATGTCTCACCTGGCCGGG	0.592000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	9					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463722	10463722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463722C>T	ENST00000525621.1	-	22	3561	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1027H|TYK2_ENST00000524462.1_Missense_Mutation_p.R842H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1027	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R1027H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCACGTTGCGCGCGGCTAG	0.662000													9	16					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149819	34149819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34149819C>T	ENST00000346193.3	-	1	628	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	193	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCGGAGTCTCGGGAGGCTTC	0.612000													8	41					0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372068	107372068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107372068G>T	ENST00000552029.1	-	2	2493	c.425C>A	c.(424-426)aCt>aAt	p.T142N	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.T142N|MTERFD3_ENST00000240050.4_Missense_Mutation_p.T142N			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCTTTAATAGTAAAGAAAGA	0.393000													29	57					2.65835e-16	3.4289e-16	1	1	0
MSL2	55167	broad.mit.edu	37	3	135871112	135871112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135871112C>A	ENST00000309993.2	-	2	1343	c.611G>T	c.(610-612)aGa>aTa	p.R204I	MSL2_ENST00000434835.2_Missense_Mutation_p.R130I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	204					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACCAAATCTATCTATTGA	0.388000													20	29					1.87028e-06	2.164e-06	1	1	0
ODF3L2	284451	broad.mit.edu	37	19	463999	463999	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:463999C>T	ENST00000315489.4	-	4	950	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.G203S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	239	Pro-rich.									large_intestine(1)|lung(2)	3						GCGCCAGGGCCGGGGGTCTCC	0.701000													6	7					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129877895	129877895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129877895T>C	ENST00000254667.3	+	20	2243	c.1964T>C	c.(1963-1965)cTt>cCt	p.L655P	PTPRE_ENST00000306042.5_Missense_Mutation_p.L597P|PTPRE_ENST00000419012.2_Missense_Mutation_p.L655P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	655	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCGAGGGACTTTTAGATGTA	0.458000													4	82					0	0	1	0	0
ZNRF2	223082	broad.mit.edu	37	7	30402073	30402073	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30402073G>A	ENST00000323037.4	+	4	1802		c.e4+1			NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TGTTTTATAGGTAATTTTTTT	0.328000													14	42					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941312	111941312	+	Missense_Mutation	SNP	T	T	C	rs139191181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941312T>C	ENST00000530641.1	-	5	986	c.661A>G	c.(661-663)Att>Gtt	p.I221V	PIH1D2_ENST00000280350.4_Missense_Mutation_p.I221V|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I221V			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GTACTGGAAATCTCTTCTATC	0.408000													36	178					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635705	39635705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635705C>T	ENST00000246639.2	-	3	647	c.515G>A	c.(514-516)gGc>gAc	p.G172D	KRT35_ENST00000393989.1_Missense_Mutation_p.G202D			Q92764	KRT35_HUMAN	keratin 35	202	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTGCGCAGGCCGTTGATGTC	0.572000													31	37					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33380508	33380508	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33380508G>A	ENST00000242067.6	+	11	1719		c.e11-1		BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000354265.4_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAAATCACAGGTGTTTGGCC	0.308000									Bardet-Biedl syndrome				40	30					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779337	36779337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36779337G>A	ENST00000416516.2	-	2	1304	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	272						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCACCATGTTTGCTCCTG	0.572000													8	81					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77755901	77755901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77755901C>T	ENST00000407578.2	-	33	5142	c.4876G>A	c.(4876-4878)Gag>Aag	p.E1626K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1588K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1588K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTCGTTCTCTGTACTAACT	0.423000													46	58					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087922	2087922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2087922A>G	ENST00000424542.2	+	7	1089	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SLC9A3R2_ENST00000566198.1_Silent_p.R206R|SLC9A3R2_ENST00000563587.1_Silent_p.R211R|SLC9A3R2_ENST00000432365.2_Silent_p.R306R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	317					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GAGCCATGCGAGTCAACAAGC	0.637000													6	8					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643315	1643315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1643315G>T	ENST00000399682.1	-	1	53	c.9C>A	c.(7-9)tgC>tgA	p.C3*		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	3						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAGCCACAGCAGCCCATGG	0.667000													48	74					1.22119e-34	1.64234e-34	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20975574	20975574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975574G>A	ENST00000261383.3	-	53	9631	c.9632C>T	c.(9631-9633)gCg>gTg	p.A3211V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3211	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCCTTCGCAGCCACGAT	0.473000													26	75					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8666003	8666003	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8666003A>G	ENST00000270328.4	-	5	885	c.619T>C	c.(619-621)Tgg>Cgg	p.W207R	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.W207R			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	207					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCAGCCACCATGGCCGCCCT	0.627000													12	29					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131831449G>A	ENST00000359827.3	-	28	5837	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_ENST00000321063.4_Silent_p.I1625I			Q9HCM2	PLXA4_HUMAN	plexin A4	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577000													44	104					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884068	63884068	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884068T>C	ENST00000246841.3	+	2	1372	c.329T>C	c.(328-330)gTc>gCc	p.V110A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	82					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AACGTGCAGGTCATCTACCTA	0.572000													14	20					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs71585886		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602000													8	92					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027090	48027090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48027090C>A	ENST00000234420.4	+	4	2120	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	MSH6_ENST00000540021.1_Silent_p.P526P|MSH6_ENST00000538136.1_Silent_p.P354P|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	656					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATGTTACCCCAGGTGCTTA	0.463000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	175					4.3838e-07	5.12524e-07	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45535897	45535897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45535897G>A	ENST00000361462.2	+	17	4859	c.4676G>A	c.(4675-4677)cGt>cAt	p.R1559H	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1506H|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1506							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTCGTGATCGTATTAATGGG	0.348000													25	48					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437333	120437333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120437333T>C	ENST00000369400.1	-	1	1785	c.1627A>G	c.(1627-1629)Aat>Gat	p.N543D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAATTTCGAATTCCT	0.378000													6	87					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124103819G>A	ENST00000360013.3	+	11	2019	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	KALRN_ENST00000460856.1_Missense_Mutation_p.R631H|KALRN_ENST00000240874.3_Missense_Mutation_p.R631H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	631					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCGTGCGCAGGGTGGAG	0.572000													25	35					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266178	198266178	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198266178A>C	ENST00000335508.5	-	17	2533	c.2442T>G	c.(2440-2442)ttT>ttG	p.F814L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	814					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTTTAAAAAAGGGAGGAA	0.348000			Mis		myelodysplastic syndrome								6	66					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127516592	127516592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127516592C>T	ENST00000262461.2	+	23	3307	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P1024S|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1040					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTATTGATACCTTACCTTCT	0.323000													32	73					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182547540	182547540	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182547540G>T	ENST00000323116.5	+	4	575	c.315_splice	c.e4+1	p.Q105_splice	ATP11B_ENST00000493826.1_Splice_Site_p.Q105_splice	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	105					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCATAAAGCAGGTATGAAATA	0.299000													5	10					5.9392e-07	6.91975e-07	1	1	0
MTRR	4552	broad.mit.edu	37	5	7878150	7878150	+	Silent	SNP	C	C	T	rs139333376	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7878150C>T	ENST00000264668.2	+	5	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Silent_p.G165G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	192					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.G192G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507000													21	29					0	0	1	0	0
ZNF200	0	broad.mit.edu	37	16	3273916	3273916	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3273916G>T	ENST00000431561.3	-	5	1776	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	ZNF200_ENST00000396871.4_Silent_p.A387A|ZNF200_ENST00000414144.2_Silent_p.A388A|ZNF200_ENST00000396870.4_Silent_p.A387A|ZNF200_ENST00000396868.3_Silent_p.A387A|ZNF200_ENST00000575948.1_Silent_p.A387A|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGTCTTACAGGCTGAGTGGG	0.483000													22	259					9.86323e-18	1.2813e-17	1	1	0
STK19	8859	broad.mit.edu	37	6	31940211	31940211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940211T>C	ENST00000375331.2	+	2	519	c.353T>C	c.(352-354)cTg>cCg	p.L118P	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.L118P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	118						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGGCATCACCTGATCCCGGAG	0.587000													29	47					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40280316	40280316	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40280316T>G	ENST00000393860.3	-	5	720	c.404A>C	c.(403-405)aAg>aCg	p.K135T	RAB5C_ENST00000346213.4_Missense_Mutation_p.K135T|RAB5C_ENST00000547517.1_Missense_Mutation_p.K168T|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K135T	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGGTCTGCCTTGTTACCCGC	0.607000													21	44					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799212	20799212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20799212G>A	ENST00000327925.5	-	1	241	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	41										large_intestine(3)|lung(3)|skin(1)	7						CTGGTCCCCCGGGTAGTCCAA	0.647000													26	23					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249410	133249410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133249410A>G	ENST00000320574.5	-	15	1532	c.1489T>C	c.(1489-1491)Tct>Cct	p.S497P	POLE_ENST00000535270.1_Missense_Mutation_p.S470P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	497					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAGTGCCAGAGCCCTTCCGC	0.542000								DNA polymerases (catalytic subunits)					6	15					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931981	83931981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83931981C>T	ENST00000345382.2	-	4	2107	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	BNC1_ENST00000569704.1_Silent_p.L667L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	674					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTGCTGCAGTTCCATGT	0.522000													10	48					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7319374	7319374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319374G>A	ENST00000302926.2	+	6	1655	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I	NLGN2_ENST00000575301.1_Missense_Mutation_p.V528I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	528					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGAATGACGTCATGCTCAG	0.637000													15	22					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642000													9	22					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241815387	241815387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241815387G>A	ENST00000307503.3	+	8	1199	c.812G>A	c.(811-813)aGc>aAc	p.S271N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	271					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCTGTACAGCCTGAGAGAG	0.632000													4	15					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13052933	13052933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13052933C>A	ENST00000506447.1	+	18	3113	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	CEP192_ENST00000325971.8_Silent_p.S415S|CEP192_ENST00000430049.2_Silent_p.S536S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	606										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTAGAGTCCTTTGGTTCAG	0.527000													19	162					2.70639e-06	3.11222e-06	1	1	0
PCDHA1	0	broad.mit.edu	37	5	140167108	140167108	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167108C>T	ENST00000504120.2	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA1_ENST00000394633.3_Silent_p.S411S|PCDHA1_ENST00000378133.3_Silent_p.S411S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGACAGCGCCCTGGATC	0.632000													23	105					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594839	31594839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31594839C>T	ENST00000376033.2	+	11	1388	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P385L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	385	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACAGCGAACCGCCCACTCCT	0.627000													28	28					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452730	130452730	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130452730T>C	ENST00000356763.3	-	4	1669	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	371					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTTTCCTTAGGCTCTCC	0.423000													10	131					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345665	92345665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92345665A>G	ENST00000377067.3	+	3	922	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	184						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTGGTGTGACTGACAGTTC	0.443000													34	65					0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28596240	28596240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28596240C>T	ENST00000317058.3	+	3	269	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	28					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGGAAGAGCGTTCGCGGAG	0.557000													15	32					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272410	48272410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48272410G>A	ENST00000225964.5	-	20	1469	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	451	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGACTTACAGGCTCTCCCTTA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						22	49					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171553144	171553144	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553144C>A	ENST00000367742.3	+	29	7701	c.7459C>A	c.(7459-7461)Ctt>Att	p.L2487I	PRRC2C_ENST00000392078.3_Missense_Mutation_p.L2487I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L2420I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.L2485I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2485	Gln-rich.						protein C-terminus binding										ATCTGTGGTCCTTTCTGGTAC	0.408000													9	102					0.000442599	0.00048047	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17452370	17452370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17452370G>T	ENST00000302539.4	-	12	1933	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ABCC8_ENST00000389817.3_Missense_Mutation_p.A603D|ABCC8_ENST00000528202.1_5'UTR	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	603					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCACTAGAGCTTTGACGGT	0.602000													60	132					2.66076e-39	3.58773e-39	1	1	0
MED12L	116931	broad.mit.edu	37	3	151129147	151129147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151129147C>A	ENST00000474524.1	+	39	5925	c.5887C>A	c.(5887-5889)Ctg>Atg	p.L1963M	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1963	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTGTGGTCCTGTCTCCCAG	0.557000													5	58					8.12818e-05	8.99451e-05	1	1	0
CELA2B	51032	broad.mit.edu	37	1	15802639	15802639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802639C>T	ENST00000375910.3	+	1	44	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	7					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GACCCTGCTGCTGTCCACTTT	0.547000													20	30					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285229	50285229	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50285229T>C	ENST00000354293.5	+	3	328	c.162T>C	c.(160-162)agT>agC	p.S54S	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.S54S	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	54					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGCTACAGTAAGAAAAAAT	0.473000													6	5					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110928326	110928326	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110928326C>A	ENST00000394780.3	+	3	390	c.378C>A	c.(376-378)acC>acA	p.T126T	ALG13_ENST00000371979.3_Silent_p.T126T|ALG13_ENST00000251943.4_Silent_p.T22T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	126					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCTATTGTACCTGCAGGTATG	0.433000													121	168					9.50458e-46	1.28382e-45	1	1	0
USP9X	8239	broad.mit.edu	37	X	41029755	41029755	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41029755C>A	ENST00000324545.7	+	20	3543	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	USP9X_ENST00000378308.2_Silent_p.S970S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	970					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGATAAGTTCCAATATGCCTT	0.358000													7	69					2.17888e-05	2.45068e-05	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959637	117959637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117959637A>G	ENST00000310164.2	+	4	937	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tcaaggggagaaagcctccct	0.483000													5	168					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15935767	15935767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15935767G>A	ENST00000268712.3	-	46	7423	c.7166C>T	c.(7165-7167)aCt>aTt	p.T2389I	NCOR1_ENST00000395851.1_Missense_Mutation_p.T2286I|NCOR1_ENST00000395857.3_Missense_Mutation_p.T973I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2389	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCCGCATAGTCAGAGGGTT	0.453000													24	46					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115959295	115959295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115959295C>A	ENST00000238256.3	-	9	898	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	261	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACAGCACAGGCTGGAGGGACA	0.498000													37	42					2.91434e-09	3.52943e-09	1	1	0
SLC12A4	6560	broad.mit.edu	37	16	67991894	67991894	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67991894G>T	ENST00000422611.2	-	3	441	c.402C>A	c.(400-402)atC>atA	p.I134I	SLC12A4_ENST00000338335.3_Silent_p.I132I|SLC12A4_ENST00000572037.1_Silent_p.I84I|SLC12A4_ENST00000537830.2_Silent_p.I126I|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Silent_p.I132I|SLC12A4_ENST00000541864.2_Silent_p.I101I|SLC12A4_ENST00000576616.1_Silent_p.I132I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	132					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAACCCCAAAGATATTCTGCA	0.587000													19	36					1.42536e-11	1.77909e-11	1	1	0
POU2F1	5451	broad.mit.edu	37	1	167365661	167365661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167365661G>A	ENST00000367862.5	+	10	1328	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	POU2F1_ENST00000429375.2_Missense_Mutation_p.A313T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A353T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A376T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A353T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	353					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTAAATGATGCAGGTAAGTG	0.353000													5	86					0	0	1	0	0
REG4	83998	broad.mit.edu	37	1	120337242	120337242	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120337242T>C	ENST00000354219.1	-	7	915	c.476A>G	c.(475-477)tAg>tGg	p.*159W	REG4_ENST00000256585.5_Nonstop_Mutation_p.*159W|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTCTTGCTCTATGGTCGGTA	0.438000													134	153					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31011684	31011684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31011684G>A	ENST00000409904.3	+	3	637	c.379G>A	c.(379-381)Gac>Aac	p.D127N	GHRHR_ENST00000409316.1_Silent_p.T8T|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.D191N			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	191					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACAGCGACGACACTGACCA	0.587000													27	30					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25967097	25967097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25967097C>A	ENST00000435504.4	-	13	2402	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ASXL2_ENST00000404843.1_Missense_Mutation_p.E443D|ASXL2_ENST00000272341.4_Missense_Mutation_p.E443D|ASXL2_ENST00000336112.4_Missense_Mutation_p.E675D			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	703	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACCACCCTCTCCTGGAC	0.637000													26	98					1.77063e-15	2.27219e-15	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42546742	42546742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42546742C>T	ENST00000262895.3	-	11	1434	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	GRIK5_ENST00000593562.1_Missense_Mutation_p.G479S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G479S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	479						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCCAGGAGCCGTTGGGCTCG	0.692000													27	26					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377064	77377064	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77377064T>C	ENST00000451710.3	-	26	4760	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1503R|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1508R|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1503R|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1508R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1508					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCACTACTCTGGGCCGATCT	0.527000													8	73					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795308	40795308	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40795308A>G	ENST00000358268.2	-	5	959	c.431T>C	c.(430-432)cTc>cCc	p.L144P	LCA5L_ENST00000288350.3_Missense_Mutation_p.L144P|LCA5L_ENST00000380671.2_Missense_Mutation_p.L144P|LCA5L_ENST00000485895.2_Missense_Mutation_p.L144P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	144										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCTTGCTGAGAGTATTCGATG	0.338000													31	56					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122757749	122757749	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122757749A>C	ENST00000245838.8	-	28	3423	c.3392T>G	c.(3391-3393)cTt>cGt	p.L1131R	THOC2_ENST00000491737.1_Missense_Mutation_p.L1016R|THOC2_ENST00000355725.4_Missense_Mutation_p.L1131R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACCAAGGAAGTATTTTTGT	0.378000													13	104					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129996708	129996708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129996708C>T	ENST00000263574.5	+	8	1276	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	APLP2_ENST00000528499.1_Missense_Mutation_p.R346C|APLP2_ENST00000345598.5_Missense_Mutation_p.R173C|APLP2_ENST00000338167.5_Missense_Mutation_p.R402C|APLP2_ENST00000278756.7_Missense_Mutation_p.R412C|APLP2_ENST00000539648.1_Missense_Mutation_p.R190C|APLP2_ENST00000543137.1_Missense_Mutation_p.R309C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	402					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GATTCGGCACCGCAACCGAAT	0.458000													37	73					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618207	52618207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52618207C>T	ENST00000600228.1	-	4	2471	c.2210G>A	c.(2209-2211)aGa>aAa	p.R737K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGAATGAATTCTTTGGTGTTT	0.398000													5	104					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488068	63488068	+	Silent	SNP	C	C	A	rs143833769	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63488068C>A	ENST00000377819.5	+	3	2248	c.2094C>A	c.(2092-2094)tcC>tcA	p.S698S	RTN3_ENST00000540798.1_Silent_p.S586S|RTN3_ENST00000339997.4_Silent_p.S679S|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	698					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAATGAGTCCGGTGGTTCTG	0.373000													35	45					1.22384e-17	1.58917e-17	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57133187	57133187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57133187C>A	ENST00000328070.6	+	3	766	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACCAGCGGGTGCACAC	0.617000													14	16					9.05144e-12	1.1316e-11	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90759193	90759193	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90759193C>T	ENST00000354366.3	-	9	1922	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E333K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGGTCATCCTCTTCTGGTTCA	0.527000													35	61					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5812918	5812918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812918C>T	ENST00000339450.5	-	5	1081	c.992G>A	c.(991-993)cGt>cAt	p.R331H	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R107H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	331					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCTGTAGATACGAAAGTCAGT	0.388000													6	83					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6417022	6417022	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6417022C>T	ENST00000389906.2	-	13	2058	c.1959G>A	c.(1957-1959)gcG>gcA	p.A653A	APBB1_ENST00000299402.6_Silent_p.A651A|APBB1_ENST00000530885.1_Silent_p.A431A|APBB1_ENST00000311051.3_Silent_p.A651A|APBB1_ENST00000524626.1_5'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	653	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACCATGCACGCAGCCTGCA	0.627000													22	24					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149522544	149522544	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149522544G>A	ENST00000258484.6	+	7	1003	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	323					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTGTCTTTGAAAGAAGAGG	0.383000													9	17					0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738592	43738592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43738592C>T	ENST00000432792.2	+	4	769	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	TMEM125_ENST00000439858.1_Missense_Mutation_p.R67W			Q96AQ2	TM125_HUMAN	transmembrane protein 125	67						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTGAATGGCGGCTAGCAAC	0.652000													6	9					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38343867	38343867	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38343867T>C	ENST00000373023.2	-	16	2003	c.1910A>G	c.(1909-1911)gAc>gGc	p.D637G	INPP5B_ENST00000373027.1_Missense_Mutation_p.D393G|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.D557G|INPP5B_ENST00000373026.1_Missense_Mutation_p.D637G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCCCGATGTCAAACACTGA	0.493000													16	25					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8139980	8139980	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8139980C>T	ENST00000600128.1	-	61	8091	c.7677G>A	c.(7675-7677)caG>caA	p.Q2559Q	FBN3_ENST00000270509.2_Silent_p.Q2559Q|FBN3_ENST00000601739.1_Silent_p.Q2559Q			Q75N90	FBN3_HUMAN	fibrillin 3	2559	EGF-like 42; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTGGGAGTGCTGGGTGAAAC	0.612000													24	42					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945270	151945270	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151945270T>A	ENST00000355193.2	-	14	2467	c.2249A>T	c.(2248-2250)aAa>aTa	p.K750I	KMT2C_ENST00000262189.6_Missense_Mutation_p.K750I					lysine (K)-specific methyltransferase 2C																		TGAAACATCTTTCACACAACC	0.383000													9	216					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74914148	74914148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74914148T>C	ENST00000372979.4	-	6	855	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ECD_ENST00000430082.1_Missense_Mutation_p.I217V|ECD_ENST00000454759.1_Missense_Mutation_p.I217V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	217					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACTGCCACAATGCCAGCTGGA	0.473000													10	24					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12948202	12948202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12948202G>A	ENST00000262124.11	+	1	209	c.82G>A	c.(82-84)Gca>Aca	p.A28T	SEH1L_ENST00000399892.2_Missense_Mutation_p.A28T	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	28					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCGGCGGATGGCAACCTGCTC	0.677000													11	13					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43308006	43308006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43308006C>T	ENST00000290650.4	-	29	3167	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1030					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATCTTCTGGCGATGTAGCCT	0.368000													34	79					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320060	31320060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31320060C>T	ENST00000269197.5	+	11	2692	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGCTTCCATCTGCTAA	0.373000													16	49					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911510	88911510	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911510A>C	ENST00000263321.5	+	1	891	c.389A>C	c.(388-390)gAg>gCg	p.E130A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	130					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGTGCCCCAGAGAAGGACAAA	0.448000													40	105					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20881924	20881924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20881924G>A	ENST00000380249.1	+	22	2736	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	FOCAD_ENST00000605086.1_Missense_Mutation_p.R227H|FOCAD_ENST00000338382.6_Missense_Mutation_p.R791H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	791						integral to membrane	binding										AATATGCCTCGTGGGATATAT	0.373000													22	94					0	0	1	0	0
PTPN12	0	broad.mit.edu	37	7	77256149	77256149	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77256149G>A	ENST00000248594.6	+	13	1425	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PTPN12_ENST00000415482.2_Missense_Mutation_p.D266N|PTPN12_ENST00000435495.2_Missense_Mutation_p.D255N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	385	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAGGACAATGATAGATACCA	0.458000													35	27					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114508144	114508144	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114508144T>C	ENST00000245680.2	-	4	688	c.273_splice	c.e4-1	p.Y92_splice	SLC35F5_ENST00000409342.1_Splice_Site_p.Y86_splice	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	92					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGTAAAAACATACTGTAGAGG	0.343000													30	30					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791788	34791788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34791788C>A	ENST00000299505.6	+	2	1283	c.410C>A	c.(409-411)cCt>cAt	p.P137H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	137										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCATAAAGCCTGAGATCGCC	0.493000													16	21					6.72482e-11	8.32712e-11	1	1	0
RNF126	55658	broad.mit.edu	37	19	648907	648907	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:648907G>A	ENST00000292363.5	-	7	800	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	215							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGGTGGGGAGGG	0.572000													5	8					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58471494	58471494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58471494C>T	ENST00000267485.7	-	8	2479	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	762						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGCATTACTCGATCTTGCAT	0.378000													12	163					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106877012	106877012	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106877012C>T	ENST00000286398.7	+	13	1861	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	SMC2_ENST00000374793.3_Missense_Mutation_p.L525F|SMC2_ENST00000303219.8_Missense_Mutation_p.L525F|SMC2_ENST00000374787.3_Missense_Mutation_p.L525F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	525	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTGAAAGGACTTGTGGCTTC	0.353000													7	57					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577000													41	52					0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282748	136282748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282748G>T	ENST00000371942.3	-	1	416	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.L73M	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	73						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACCTCTTGCAGCGCCTTCCAG	0.617000													4	94					1	1	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208215490	208215490	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215490G>A	ENST00000367033.3	-	22	4996	c.4239C>T	c.(4237-4239)atC>atT	p.I1413I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1413					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTATCGATGAGGTCAG	0.612000													36	31					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923090	158923090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923090C>T	ENST00000367097.3	+	13	3752	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	799					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAACACCTGCAGAAGTCAGC	0.647000													7	47					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215027	153215027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153215027C>T	ENST00000310441.7	-	25	7011	c.6045G>A	c.(6043-6045)aaG>aaA	p.K2015K	HCFC1_ENST00000354233.3_Silent_p.K1946K|HCFC1_ENST00000369984.4_Silent_p.K2060K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2015					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCCGCTTGTTGGCTG	0.532000													29	58					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752440	36752440	+	Silent	SNP	G	G	A	rs142896902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752440G>A	ENST00000354618.5	+	4	833	c.609G>A	c.(607-609)gaG>gaA	p.E203E	THRAP3_ENST00000469141.2_Silent_p.E203E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	203	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAAGGAGCAGACATTCT	0.537000			T	USP6	aneurysmal bone cysts								47	75					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18745165	18745165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18745165A>G	ENST00000304081.4	-	9	1650	c.1550T>C	c.(1549-1551)aTc>aCc	p.I517T	NT5C1B_ENST00000600945.1_Missense_Mutation_p.I577T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I577T|NT5C1B_ENST00000359846.2_Missense_Mutation_p.I577T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGGGGCCGGATCTTCACCAA	0.502000													35	64					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103132400	103132400	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103132400C>T	ENST00000428762.1	-	58	9602	c.9443_splice	c.e58+1	p.R3148_splice	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site_p.R3148_splice|RELN_ENST00000424685.2_Splice_Site_p.R3148_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3148					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCACAAACCTTGCATCCTT	0.388000													7	17					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54374161C>T	ENST00000306888.2	-	2	577	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LNX1-AS1_ENST00000514364.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|LNX1-AS1_ENST00000511989.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205						cytoplasm	zinc ion binding	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552000													9	19					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054046	4054046	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054046G>A	ENST00000322357.4	-	2	1463	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	ZBTB7A_ENST00000601588.1_Silent_p.G395G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCTTGCCGGCGCCCT	0.657000													6	38					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593066	125593066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125593066C>T	ENST00000504087.1	-	4	2403	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A277T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	456										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCAATGCAAATTCTTGT	0.383000													42	89					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33218771	33218771	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33218771A>G	ENST00000396033.2	-	4	490	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.L119L|ITGB1_ENST00000374956.4_Silent_p.L119L|ITGB1_ENST00000423113.1_Silent_p.L119L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	119					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CGCAAAACCAACTGCTGTGGT	0.423000													30	195					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100211276	100211276	+	Missense_Mutation	SNP	G	G	A	rs144565703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100211276G>A	ENST00000393950.2	+	3	740	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MOSPD3_ENST00000223054.4_Missense_Mutation_p.R153H|MOSPD3_ENST00000424091.2_Missense_Mutation_p.R143H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R153H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	153						integral to membrane	structural molecule activity	p.R153H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCGCCTCGCCCAGGGCCT	0.627000													18	37					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32306236	32306236	+	Nonsense_Mutation	SNP	G	G	A	rs150818260		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32306236G>A	ENST00000302418.4	-	24	3053	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	866					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCGAAGTCGCTTTTCCAAC	0.418000			T	"""RET, ALK"""	NSCLC								7	67					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174210653C>T	ENST00000251507.4	+	5	749	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	192	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363000													18	39					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21054957	21054957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21054957G>A	ENST00000339486.3	+	9	1676	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RIOK3_ENST00000581585.1_Silent_p.K337K|RIOK3_ENST00000577501.1_Silent_p.K353K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	353	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACTACTGAAGAAACACATTT	0.343000													4	65					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529105	43529105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529105C>T	ENST00000290429.5	-	4	1162	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	373					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGCAGCACATCCACGGCGCTG	0.617000													6	127					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78309003	78309003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78309003G>T	ENST00000370791.3	+	8	939	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	FAM73A_ENST00000443751.2_Missense_Mutation_p.D265Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	303						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAAGATACAGATATCACCAT	0.403000													23	46					1.96895e-08	2.35655e-08	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48826496	48826496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48826496C>A	ENST00000314191.2	-	24	2802	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E916*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	916					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCGCTAATTCTGTGACTCGA	0.423000								Non-homologous end-joining					12	102					0.0135373	0.0140872	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240061441	240061441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240061441C>T	ENST00000345617.3	-	9	1708	c.917G>A	c.(916-918)aGc>aAc	p.S306N	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.S275N|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	306	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCCCGGAGCTGTTGTTGGG	0.662000													33	60					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754220	5754220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5754220G>A	ENST00000381624.3	+	13	1303	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CATSPERD_ENST00000381614.2_Silent_p.S72S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	414						integral to membrane											TGACTGCTTCGTTGATACCCC	0.453000													65	86					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891391	18891391	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891391C>A	ENST00000317658.3	+	1	347	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	63					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGTACCACTCTGCATCGATG	0.433000													19	47					5.35267e-07	6.25286e-07	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42840958	42840958	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42840958G>T	ENST00000334370.4	+	7	1879		c.e7-1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCTTCGGTAGGTTCTCTGTG	0.617000													23	41					3.6726e-16	4.7309e-16	1	1	0
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183699582G>A	ENST00000295113.4	-	6	1581	c.972C>T	c.(970-972)cgC>cgT	p.R324R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).		brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R324R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428000													18	37					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795115	55795115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55795115T>C	ENST00000379665.2	+	1	902	c.803T>C	c.(802-804)tTg>tCg	p.L268S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGTATGGCTTTGAGCAAAGGT	0.393000													31	45					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702189	8702189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702189G>T	ENST00000329805.4	-	1	478	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	84						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCGAGCAGGGAGCCGATC	0.602000													21	45					2.27525e-19	2.97756e-19	1	1	0
ADH6	130	broad.mit.edu	37	4	100131284	100131284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131284G>T	ENST00000394897.1	-	5	604	c.522C>A	c.(520-522)agC>agA	p.S174R	ADH6_ENST00000394899.2_Missense_Mutation_p.S174R|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.S174R|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	174					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AAAAGCCACAGCTAATTAGGC	0.433000													23	37					1.36565e-18	1.78266e-18	1	1	0
KDM4D	55693	broad.mit.edu	37	11	94731271	94731271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94731271G>T	ENST00000335080.5	+	3	1567	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KDM4D_ENST00000536741.1_Missense_Mutation_p.K245N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	245	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCGGCACAAGGTGGCCCTCA	0.592000													10	45					0.000442599	0.00048047	1	1	0
MICAL2	9645	broad.mit.edu	37	11	12248580	12248580	+	Missense_Mutation	SNP	C	C	T	rs139751583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12248580C>T	ENST00000256194.4	+	15	2185	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	MICAL2_ENST00000537344.1_Missense_Mutation_p.R633C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R633C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R633C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R633C	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	633						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGATTCTTGGCGCAAAAACTA	0.468000													27	36					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169988	32169988	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32169988A>G	ENST00000375023.3	-	21	3758	c.3620T>C	c.(3619-3621)gTc>gCc	p.V1207A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1207					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGTCTGGGACTCCCAGAGA	0.642000													17	35					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53472995	53472995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53472995G>A	ENST00000262133.6	+	2	445	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	103					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTGTAAGCAAAGGGACA	0.353000													24	42					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578972	1578972	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578972G>T	ENST00000572621.1	-	18	3079	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P	PRPF8_ENST00000304992.6_Silent_p.P938P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	938						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTAATCCAGGGTGGGAACA	0.527000													106	153					5.93467e-45	8.01502e-45	1	1	0
HGS	9146	broad.mit.edu	37	17	79667739	79667739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79667739G>T	ENST00000329138.4	+	20	2166	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	677	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGCCTCCCAGGCCCCACAGA	0.667000													4	36					0.150653	0.152692	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20180469C>T	ENST00000245957.5	+	17	1931	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	619								p.R619R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532000													8	118					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132537633	132537633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132537633G>A	ENST00000265342.7	-	15	2067	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	606						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGATGTGGTTGATGATGA	0.572000													39	59					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57092917	57092917	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57092917C>A	ENST00000436936.1	+	29	4089	c.3864C>A	c.(3862-3864)gcC>gcA	p.A1288A	NLRC5_ENST00000539144.1_Silent_p.A1259A|NLRC5_ENST00000308149.7_Silent_p.A1259A|NLRC5_ENST00000262510.6_Silent_p.A1288A			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1288					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAAAGTGCCCTGTACCTGC	0.587000													103	150					3.676e-42	4.96062e-42	1	1	0
FAT4	79633	broad.mit.edu	37	4	126398495	126398495	+	Missense_Mutation	SNP	G	G	A	rs143740948		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126398495G>A	ENST00000335110.5	+	12	7268	c.7268G>A	c.(7267-7269)gGc>gAc	p.G2423D	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4160	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCAGTATGGCGATTTTATT	0.368000													5	98					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096431	44096431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44096431G>A	ENST00000494774.1	+	5	424	c.403G>A	c.(403-405)Gct>Act	p.A135T	DBNL_ENST00000448521.1_Missense_Mutation_p.A135T|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000490734.2_Missense_Mutation_p.A40T|DBNL_ENST00000452943.1_Missense_Mutation_p.A110T|DBNL_ENST00000440166.1_Missense_Mutation_p.A32T|DBNL_ENST00000468694.1_Missense_Mutation_p.A135T|DBNL_ENST00000497184.1_3'UTR	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	135					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGGCCAAGGCTTCAGGTGC	0.622000													30	62					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	99055575	99055575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99055575C>A	ENST00000295268.3	-	2	234	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.E49*(1)									AAAGTACTTTCTCTGGCAGTC	0.358000													8	90					5.68852e-11	7.05143e-11	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42045648	42045648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42045648G>T	ENST00000372584.1	-	3	5835	c.4821C>A	c.(4819-4821)tgC>tgA	p.C1607*	HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.C1607*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1607					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTTTAAATAGCACCAACTGA	0.483000													6	154					8.12818e-05	8.99451e-05	1	1	0
PAPLN	89932	broad.mit.edu	37	14	73718426	73718426	+	Missense_Mutation	SNP	C	C	T	rs150353286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73718426C>T	ENST00000427855.1	+	9	827	c.725C>T	c.(724-726)gCg>gTg	p.A242V	PAPLN_ENST00000340738.5_Missense_Mutation_p.A215V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A242V|PAPLN_ENST00000554301.1_Missense_Mutation_p.A242V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A242V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	242						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCATCGAGGCGGCCCGGGCC	0.672000													30	42					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128118356	128118356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128118356C>A	ENST00000284694.7	-	7	2081	c.1961_splice	c.e7+1	p.R654_splice	C10orf90_ENST00000454341.1_Splice_Site_p.R557_splice|C10orf90_ENST00000480379.1_Splice_Site_p.R58_splice|C10orf90_ENST00000544758.1_Splice_Site_p.R751_splice|C10orf90_ENST00000356858.3_Splice_Site_p.R607_splice	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	654				R -> G (in Ref. 3; BAB71512).						NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCAAGTACCTCTTAGATCG	0.448000													23	35					9.86323e-18	1.2813e-17	1	1	0
KCNK16	83795	broad.mit.edu	37	6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39290160G>A	ENST00000425054.2	-	1	156	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000373229.5_Missense_Mutation_p.R53C|KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592000													7	15					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22987483C>T	ENST00000509305.1	+	3	706	c.360C>T	c.(358-360)atC>atT	p.I120I	C1QB_ENST00000314933.6_Silent_p.I122I			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617000													32	63					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176355	25176355	+	Nonsense_Mutation	SNP	G	G	A	rs146941527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25176355G>A	ENST00000409280.1	-	10	1317	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428000													51	158					0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189225	124189225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124189225G>A	ENST00000368988.1	+	13	1150	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T	PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R329H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.A343T|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R329H			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	0					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGCCTCTCGCAGCAACTCT	0.537000													19	20					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75513169C>A	ENST00000332272.4	-	3	737	c.558G>T	c.(556-558)ccG>ccT	p.P186P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706000													41	40					1.57945e-13	2.0047e-13	1	1	0
PARP9	83666	broad.mit.edu	37	3	122259582	122259582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122259582C>A	ENST00000462315.1	-	8	1795	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	PARP9_ENST00000360356.2_Missense_Mutation_p.R536I|PARP9_ENST00000492382.1_Missense_Mutation_p.R81I|PARP9_ENST00000471785.1_Missense_Mutation_p.R501I|PARP9_ENST00000477522.2_Missense_Mutation_p.R501I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	536					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCAGGATTCTTTGGATCCA	0.433000													54	74					6.176e-18	8.03537e-18	1	1	0
CSNK1G2	1455	broad.mit.edu	37	19	1978308	1978308	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978308G>A	ENST00000255641.8	+	3	687	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	64	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGGAAAGAATCTCTATA	0.657000													9	39					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45826798	45826798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45826798C>T	ENST00000342894.3	+	6	1117	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R303C|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	235										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAGAAAAGCGCCAGCGAGA	0.652000													6	5					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25967018	25967018	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25967018A>G	ENST00000356865.6	-	7	1260	c.1149T>C	c.(1147-1149)atT>atC	p.I383I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	383					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGCTTTAACAATTTCAATGG	0.468000													22	31					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621168	13621168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13621168G>A	ENST00000361205.4	+	5	902	c.234G>A	c.(232-234)atG>atA	p.M78I	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M78I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000585931.1_Start_Codon_SNP_p.M1I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M78I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		TCACGGTGATGGTGGTGGTCA	0.627000													51	80					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753865	207753865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753865G>C	ENST00000367049.4	+	31	5123	c.5123G>C	c.(5122-5124)tGt>tCt	p.C1708S	CR1_ENST00000400960.2_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.C1258S|CR1_ENST00000367053.1_Missense_Mutation_p.C1258S|CR1_ENST00000367051.1_Missense_Mutation_p.C1258S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1258	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGAAATCCTGTGATGACTTC	0.433000													65	134					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541485	32541485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32541485C>A	ENST00000360538.2	-	3	3154	c.3038G>T	c.(3037-3039)aGt>aTt	p.S1013I	TOPORS_ENST00000379858.1_Missense_Mutation_p.S948I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1013					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACAATGTTACTGGGCTGGTT	0.418000													9	115					0.00448238	0.00472561	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21191064	21191064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21191064C>T	ENST00000602326.1	-	20	3344	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	EIF4G3_ENST00000374937.3_Missense_Mutation_p.V921M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V915M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V915M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V405M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V635M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V519M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	915	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCACCACACAGTCA	0.458000													14	146					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93258692	93258692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93258692A>G	ENST00000322349.8	-	3	453	c.189T>C	c.(187-189)gtT>gtC	p.V63V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	63					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCATCATGAACAGCTTCAT	0.373000													6	81					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964942	9964942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9964942G>T	ENST00000264833.4	-	6	1470	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	OLFM2_ENST00000590841.1_Missense_Mutation_p.L351I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	429	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGGTATAGAGGGCGCGCTCC	0.567000													6	58					2.0095e-06	2.31757e-06	1	1	0
CALD1	800	broad.mit.edu	37	7	134644788	134644788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134644788G>A	ENST00000361388.2	+	12	1904	c.1438G>A	c.(1438-1440)Gta>Ata	p.V480I	CALD1_ENST00000361675.2_Missense_Mutation_p.V709I|CALD1_ENST00000393118.2_Missense_Mutation_p.V474I|CALD1_ENST00000422748.1_Missense_Mutation_p.V479I|CALD1_ENST00000543443.1_Missense_Mutation_p.V459I|CALD1_ENST00000495522.1_Missense_Mutation_p.V473I|CALD1_ENST00000417172.1_Missense_Mutation_p.V454I|CALD1_ENST00000361901.2_Missense_Mutation_p.V454I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.V448I	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	709					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAAGGTGTACGCAACAT	0.458000													7	78					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086793	41086793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41086793C>T	ENST00000291842.5	+	9	844	c.795C>T	c.(793-795)agC>agT	p.S265S	SHKBP1_ENST00000600733.1_Silent_p.S265S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCGGCAGCGAGATCCTGC	0.607000													27	52					0	0	1	0	0
LIMD2	80774	broad.mit.edu	37	17	61776415	61776415	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61776415G>A	ENST00000259006.3	-	3	215	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LIMD2_ENST00000578402.1_Silent_p.G19G|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.G19G|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Silent_p.G19G	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						TGCTGCTGCCGCCGCCTTTGG	0.736000													10	8					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052354	216052354	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216052354A>G	ENST00000366943.2	-	42	8696	c.8310T>C	c.(8308-8310)aaT>aaC	p.N2770N	USH2A_ENST00000307340.3_Silent_p.N2770N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2770	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGAAGTCACATTGGTTAAAG	0.428000										HNSCC(13;0.011)			11	139					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649810	135649810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135649810G>A	ENST00000520727.1	-	4	605	c.306C>T	c.(304-306)agC>agT	p.S102S	ZFAT_ENST00000377838.3_Silent_p.S114S|ZFAT_ENST00000520356.1_Silent_p.S102S|ZFAT_ENST00000520214.1_Silent_p.S102S|ZFAT_ENST00000523399.1_Silent_p.S114S|ZFAT_ENST00000429442.2_Silent_p.S102S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	114			P -> S (in dbSNP:rs12541381).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCAAGCTGCTTGGAGGCA	0.572000													16	31					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124936902	124936902	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124936902C>T	ENST00000536616.1	+	4	473	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_ENST00000373764.3_Silent_p.N145N|MORN5_ENST00000486801.1_3'UTR			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145								p.N145N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448000													32	38					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661185	44661185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661185C>T	ENST00000426739.2	+	6	1274	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	ZNF234_ENST00000592437.1_Missense_Mutation_p.T339I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGGTCCACACAGGAGAGAAA	0.448000													7	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56374448	56374448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374448G>T	ENST00000370754.5	-	74	18910	c.18911C>A	c.(18910-18912)tCt>tAt	p.S6304Y	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S6126Y|DST_ENST00000421834.2_Missense_Mutation_p.S4038Y|DST_ENST00000370788.2_Missense_Mutation_p.S3929Y|DST_ENST00000244364.6_Missense_Mutation_p.S3712Y|DST_ENST00000361203.3_Missense_Mutation_p.S6015Y|DST_ENST00000446842.2_Missense_Mutation_p.S5800Y|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6124					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTTGGCAGATATGTCTTT	0.393000													15	19					2.5808e-16	3.33049e-16	1	1	0
NOX3	50508	broad.mit.edu	37	6	155732473	155732473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155732473G>A	ENST00000159060.2	-	11	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	444							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTGCATCCCGGCAAATCCAG	0.413000													20	27					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603183	138603183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603183A>G	ENST00000440172.1	-	2	1237	c.1189T>C	c.(1189-1191)Tca>Cca	p.S397P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S397P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S347P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	397						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGGCTGAATTGCTATGC	0.522000			O	BRAF	pilocytic astrocytoma								6	90					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831491	86831491	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86831491G>A	ENST00000237455.4	-	4	2501	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	511					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACATTGGTAAGTTTTTAATAT	0.433000													75	103					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443000										TSP Lung(15;0.13)			24	21					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91963028	91963028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91963028G>A	ENST00000375807.3	+	12	1708	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R473H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R478H	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	546					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAAGCAGCGTCTCCAAGAA	0.393000													21	39					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39777845	39777845	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39777845C>A	ENST00000540235.1	-	7	1310	c.1311_splice	c.e7+1	p.K437_splice	KRT17_ENST00000311208.8_Splice_Site_p.K278_splice			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCCCCCACCTTGCTGAAGA	0.607000													5	64					1	1	1	1	0
CYP20A1	57404	broad.mit.edu	37	2	204143395	204143395	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204143395A>G	ENST00000356079.4	+	7	902	c.779A>G	c.(778-780)aAc>aGc	p.N260S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.N268S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	260						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTACAAGGGAACCTTAATGAC	0.388000													16	26					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080782	148080782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148080782C>A	ENST00000361727.3	+	22	4033	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P232T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1173	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACAACACCCCAGGATTCAC	0.468000										HNSCC(39;0.1)			28	60					9.39395e-14	1.19386e-13	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12542575	12542575	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12542575T>C	ENST00000301547.5	-	4	608	c.411A>G	c.(409-411)ggA>ggG	p.G137G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	137					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGGCTTCTCTCCACATTCAT	0.418000													8	81					0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33406360G>A	ENST00000256257.1	-	6	780	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	127						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	p.R127C(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498000													54	55					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108594046	108594046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108594046C>T	ENST00000526794.1	+	13	1854	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	DDX10_ENST00000322536.3_Missense_Mutation_p.P608S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	608							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCATCTCTTCCTAACACCAG	0.433000			T	NUP98	AML*								22	22					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85592238	85592238	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85592238C>A	ENST00000294664.6	+	20	2337	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	WDR63_ENST00000370596.1_Silent_p.T680T|WDR63_ENST00000326813.8_Silent_p.T680T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	719										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGGTACACCTCAGGCCACT	0.443000													4	58					0.00909568	0.00947522	1	1	0
DSP	1832	broad.mit.edu	37	6	7569487	7569487	+	Silent	SNP	G	G	A	rs35820473	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7569487G>A	ENST00000379802.3	+	12	1829	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DSP_ENST00000418664.2_Silent_p.T496T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGTACGTGACGGGCCCGGGAG	0.557000													28	43					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448746	89448746	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448746T>C	ENST00000399794.2	-	3	1479	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y255C|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	255							nucleotide binding|RNA binding										TCTTGATGGATAGTCATCACG	0.428000													8	202					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58125691	58125691	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58125691G>T	ENST00000184956.6	-	17	2622	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	HEATR6_ENST00000585976.1_Missense_Mutation_p.S757Y	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	869							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACATTCAGAGACTTGTCTTC	0.453000													10	18					1.58986e-06	1.84011e-06	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35691272	35691272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35691272C>A	ENST00000440995.2	+	11	1658	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SPEF2_ENST00000509059.1_Missense_Mutation_p.P553H|SPEF2_ENST00000356031.3_Missense_Mutation_p.P553H|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACAACACCTGAATTACCT	0.388000													9	117					0.00448238	0.00472561	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148025802	148025802	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148025802C>A	ENST00000369219.1	-	1	46	c.30G>T	c.(28-30)gaG>gaT	p.E10D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	10						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAAGCTTCTCCTCCTTGAACT	0.522000													10	290					0.000566183	0.000614449	1	1	0
SSPO	23145	broad.mit.edu	37	7	149481158	149481158	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149481158C>T	ENST00000378016.2	+	0	2640							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCTTGTGCCCCTGCCAGC	0.642000													3	10					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48280594	48280594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48280594C>T	ENST00000435803.1	+	10	1217	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	398					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTCTGCACACTGCACTGCTC	0.473000													31	115					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72162984	72162984	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72162984A>C	ENST00000537465.1	-	13	2104	c.1946T>G	c.(1945-1947)tTt>tGt	p.F649C	PMFBP1_ENST00000237353.10_Missense_Mutation_p.F644C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.F499C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	649										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCTTTTTAAATTCCTGCCG	0.542000													16	204					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602000													12	109					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409831	105409831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409831G>A	ENST00000333244.5	-	7	12076	c.11957C>T	c.(11956-11958)tCc>tTc	p.S3986F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3986						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTCCATGGACTTGCCTGG	0.602000													103	160					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810623	23810623	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23810623G>T	ENST00000354639.3	+	14	2108		c.e14-1		STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCATTTAGGATCAAGGTG	0.343000													15	131					3.52763e-06	4.04633e-06	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77767503G>T	ENST00000521891.2	+	10	8794	c.8346G>T	c.(8344-8346)gaG>gaT	p.E2782D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2756D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2737D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2737D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)			5	32					0.184627	0.186383	1	1	0
DSP	1832	broad.mit.edu	37	6	7567605	7567605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7567605C>T	ENST00000379802.3	+	9	1404	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q355*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	355	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACACTCTGCAGACGCAGTG	0.413000													6	109					0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18572498	18572498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18572498G>T	ENST00000262809.4	-	5	705	c.634C>A	c.(634-636)Ctg>Atg	p.L212M		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	212					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGAGGTGCAGCACTCGGTCA	0.667000			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					7.45023e-12	9.32672e-12	1	1	0
MSH6	2956	broad.mit.edu	37	2	48026290	48026290	+	Missense_Mutation	SNP	G	G	A	rs147737737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48026290G>A	ENST00000234420.4	+	4	1320	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	MSH6_ENST00000540021.1_Missense_Mutation_p.D260N|MSH6_ENST00000538136.1_Missense_Mutation_p.D88N|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	390					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D390N(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCACCCCGATTTTGATGC	0.448000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	68					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52912800	52912800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52912800C>T	ENST00000252242.4	-	2	1090	c.700G>A	c.(700-702)Gtg>Atg	p.V234M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCCACGATGCTGTCC	0.597000													61	84					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62688032	62688032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62688032G>T	ENST00000280377.5	+	2	220	c.162G>T	c.(160-162)caG>caT	p.Q54H	USP15_ENST00000353364.3_Missense_Mutation_p.Q54H|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.Q54H|USP15_ENST00000312635.6_Missense_Mutation_p.Q54H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	54	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACCAGATGGGAGATC	0.358000													7	61					0.000274275	0.000298791	1	1	0
TBX1	6899	broad.mit.edu	37	22	19752591	19752591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19752591C>T	ENST00000332710.4	+	6	924	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TBX1_ENST00000359500.3_Silent_p.F265F|TBX1_ENST00000329705.7_Silent_p.F265F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	265					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCTTTGTGTTCGAGGAGACAC	0.557000													30	45					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14342792	14342792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14342792C>T	ENST00000571589.1	+	13	2429	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q703*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q703*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.Q742*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	742	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACTTCACCACAAGCAGGAAT	0.448000													19	45					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50245298	50245298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50245298C>T	ENST00000357464.3	+	3	421	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	PAPD5_ENST00000436909.3_Missense_Mutation_p.R220W|PAPD5_ENST00000561678.1_Missense_Mutation_p.R153W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGAAGATGCGGATGGAGGT	0.458000													13	21					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810709	140810709	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810709G>T	ENST00000509479.2	-	2	2737	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	MAML3_ENST00000398940.1_Silent_p.P155P|MAML3_ENST00000327122.5_Silent_p.P471P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	623	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGGCATCAAGGGGTTTTTGT	0.562000													7	120					0.00198382	0.00210581	1	1	0
INSR	0	broad.mit.edu	37	19	7170584	7170584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7170584C>T	ENST00000341500.5	-	6	1486	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	INSR_ENST00000302850.5_Missense_Mutation_p.D483N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	483					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGCAATGTCGTTTCTCTCC	0.502000													17	146					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515348	26515348	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26515348C>A	ENST00000531191.1	+	19	2009	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	CNKSR1_ENST00000361530.6_Silent_p.T592T|CNKSR1_ENST00000374253.5_Silent_p.T599T			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	599	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCTGACCCAGGAACAGT	0.627000													5	70					0.00116845	0.00124821	1	1	0
ZNF668	79759	broad.mit.edu	37	16	31075731	31075731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075731C>T	ENST00000538906.1	-	2	834	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZNF668_ENST00000539836.3_Missense_Mutation_p.R40H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R17H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R40H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R17H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R17H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGGCCCGAGCGCTTGTAGCC	0.632000													27	29					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69197064	69197064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197064G>A	ENST00000563094.1	+	14	1664	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	CIRH1A_ENST00000352319.4_Missense_Mutation_p.A429T|CIRH1A_ENST00000314423.7_Missense_Mutation_p.A544T			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	544						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTTGTCATCGCTCATTCGGA	0.498000													55	82					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747166	158747166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747166C>A	ENST00000339258.1	-	1	259	c.260G>T	c.(259-261)aGt>aTt	p.S87I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTCTTCTCACTGAGAATATT	0.448000													7	164					0.000157383	0.00017284	1	1	0
METTL3	56339	broad.mit.edu	37	14	21968795	21968795	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21968795G>A	ENST00000298717.4	-	6	1297	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	382				D -> V (in Ref. 1; AAB71850).	gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.D382D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGATACTGACGTCCAGGTAGC	0.493000													4	62					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53980441	53980441	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53980441G>A	ENST00000312233.2	-	7	1781	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	405					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGTGATGGAGCCAGGATACA	0.607000													16	21					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95033829	95033829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95033829C>A	ENST00000375643.3	-	11	1365	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	IARS_ENST00000443024.2_Nonsense_Mutation_p.G367*|IARS_ENST00000447699.2_Nonsense_Mutation_p.G257*|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	367					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACATACTGTCCTGCGAAATCT	0.418000													6	78					0.00198382	0.00210581	1	1	0
RAC1	5879	broad.mit.edu	37	7	6426844	6426844	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6426844G>A	ENST00000348035.4	+	2	250	c.35_splice	c.e2-1	p.A13_splice	RAC1_ENST00000356142.4_Splice_Site_p.A13_splice|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	13					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TCTCTTTAGAGCTGTAGGTAA	0.323000													72	42					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971507	21971507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21971507G>A	ENST00000298717.4	-	3	683	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	178					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTGCACGCCGCTTCTGCCCT	0.552000													12	32					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721597	55721597	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55721597G>T	ENST00000373965.2	-	23	3339	c.2945C>A	c.(2944-2946)cCt>cAt	p.P982H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P586H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P982H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P938H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P975H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P975H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P975H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P904H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P975H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P953H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P980H|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	975	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATACTGGCAGGGTAAGGAAA	0.328000										HNSCC(58;0.16)			6	95					0.0293803	0.0301098	1	1	0
ANO2	57101	broad.mit.edu	37	12	5744492	5744492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5744492C>T	ENST00000356134.5	-	18	1716	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	ANO2_ENST00000327087.8_Missense_Mutation_p.V548I|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.V549I	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	553						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCCCAAAGACGATTGAGAAT	0.483000													6	17					0	0	1	0	0
MIR548A1	0	broad.mit.edu	37	6	18572065	18572065	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18572065A>G	ENST00000385041.1	+	0	51					NR_030312.1																						tttgccattaaaagtaacgac	0.333000													25	32					0	0	1	0	0
ROMO1	140823	broad.mit.edu	37	20	34288814	34288814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34288814G>T	ENST00000374078.1	+	3	406	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	ROMO1_ENST00000336695.4_Missense_Mutation_p.G76C|ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000397416.1_Missense_Mutation_p.G76C|ROMO1_ENST00000374077.3_Missense_Mutation_p.G76C	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	76					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						CATTGGGATGGGCATCCGATG	0.522000													16	41					1.5739e-10	1.9432e-10	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21045299C>T	ENST00000261383.3	-	36	5193	c.5194G>A	c.(5194-5196)Gca>Aca	p.A1732T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537000													15	15					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467473	129467473	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129467473G>T	ENST00000442111.2	+	12	967		c.e12-1		GLT1D1_ENST00000537468.1_Splice_Site|GLT1D1_ENST00000542193.1_Splice_Site|GLT1D1_ENST00000281703.6_Splice_Site			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1						biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTTTTGCAGGAGTTTGTTC	0.443000													28	60					7.38237e-10	9.02878e-10	1	1	0
CPEB1	64506	broad.mit.edu	37	15	83296017	83296017	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296017T>C	ENST00000568757.1	-	0	324				CPEB1_ENST00000450751.2_De_novo_Start_InFrame|CPEB1_ENST00000563800.1_Missense_Mutation_p.I66M|CPEB1_ENST00000562019.1_Missense_Mutation_p.I39M|CPEB1_ENST00000568128.1_Missense_Mutation_p.I39M			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AATTATCCAATATGGCATTTA	0.408000													5	84					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350797	23350797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23350797G>A	ENST00000338121.5	+	6	1932	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	GZF1_ENST00000377051.2_Missense_Mutation_p.G619R|GZF1_ENST00000544236.1_Missense_Mutation_p.G143R|GZF1_ENST00000542987.1_Missense_Mutation_p.G128R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	619					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACGATGACGGACACAAGAC	0.433000													10	25					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156218	146156218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156218G>T	ENST00000276816.4	-	4	2141	c.1955C>A	c.(1954-1956)aCt>aAt	p.T652N	ZNF16_ENST00000394909.2_Missense_Mutation_p.T652N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCACCCCAGTGTGAATCCT	0.527000													40	77					7.04047e-22	9.28103e-22	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68948463	68948463	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68948463T>C	ENST00000456315.2	-	8	1142	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	343					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAGGCACTCAGTTGATTT	0.348000													11	74					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30770336	30770336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30770336G>A	ENST00000543610.1	-	8	1775	c.814C>T	c.(814-816)Cca>Tca	p.P272S	PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Missense_Mutation_p.P337S|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	272										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCTCACTTGGCTCTGGCTCT	0.517000													72	78					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241262035C>A	ENST00000366565.1	-	3	487	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	RGS7_ENST00000407727.1_Missense_Mutation_p.D36Y|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.D36Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D36Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D10Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D36Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D36Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343000													11	57					0.00136819	0.00146042	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542000													46	70					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87479030	87479030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87479030C>T	ENST00000517970.1	+	25	2984	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	WWP1_ENST00000341922.2_Missense_Mutation_p.R763C|WWP1_ENST00000265428.4_Missense_Mutation_p.R893C|WWP1_ENST00000349423.2_Missense_Mutation_p.R675C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	893	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAGTTTTAATCGCTTGGATCT	0.308000													32	75					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931303	116931303	+	Missense_Mutation	SNP	C	C	T	rs139745455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116931303C>T	ENST00000537345.1	+	6	908	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ATP1A1_ENST00000295598.5_Missense_Mutation_p.A182V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A151V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	182					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCATAAATGCGGAGGAAGTT	0.438000													43	71					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776890	76776890	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776890A>G	ENST00000373344.5	-	33	7276	c.7062T>C	c.(7060-7062)atT>atC	p.I2354I	ATRX_ENST00000395603.3_Silent_p.I2316I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2354					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTACAGCTGAAATTATATCCT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	69					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544356	39544356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39544356C>A	ENST00000318578.3	+	2	388	c.20C>A	c.(19-21)aCt>aAt	p.T7N	RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T7N|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	7										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AAATTCATTACTGGCAAGCAC	0.473000													22	193					1.10513e-12	1.39297e-12	1	1	0
LTK	4058	broad.mit.edu	37	15	41799345	41799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41799345G>A	ENST00000263800.6	-	11	1585	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LTK_ENST00000561619.1_Missense_Mutation_p.P195S|LTK_ENST00000453182.2_Missense_Mutation_p.A397V|LTK_ENST00000355166.5_Missense_Mutation_p.P436S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	497					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTGGCAGAGGCCAGGACTGG	0.582000										TSP Lung(18;0.14)			22	40					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	373112	373112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:373112C>T	ENST00000280886.6	-	31	3845	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1253						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGCCCTCGCGCCTGGAG	0.577000													10	19					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193355763	193355763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193355763G>T	ENST00000361510.2	+	11	1292	c.1058G>T	c.(1057-1059)aGt>aTt	p.S353I	OPA1_ENST00000392438.3_Missense_Mutation_p.S298I|OPA1_ENST00000361908.3_Missense_Mutation_p.S335I|OPA1_ENST00000361828.2_Missense_Mutation_p.S316I|OPA1_ENST00000361150.2_Missense_Mutation_p.S299I|OPA1_ENST00000361715.2_Missense_Mutation_p.S317I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	298					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGATCAGAGTGCTGGAAAG	0.388000													4	28					0.00909568	0.00947522	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072720	34072720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072720G>A	ENST00000254466.6	-	6	1823	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A583V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	599					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGATGGCTTGCTCCTT	0.597000													28	82					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140725798	140725798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725798C>T	ENST00000253812.6	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTGGCGAGTACGCCC	0.672000													20	42					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116435789	116435789	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116435789T>C	ENST00000397752.3	+	20	4079	c.3879T>C	c.(3877-3879)acT>acC	p.T1293T	MET_ENST00000318493.6_Silent_p.T1311T|MET_ENST00000539704.1_Silent_p.T163T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATATAACTGTTTACTTGT	0.453000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	179	144					0	0	1	0	0
TMEM9B	56674	broad.mit.edu	37	11	8969875	8969875	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8969875G>T	ENST00000534025.1	-	5	1048	c.589C>A	c.(589-591)Ctc>Atc	p.L197I	TMEM9B_ENST00000309134.5_Missense_Mutation_p.L123I|TMEM9B_ENST00000525069.1_Missense_Mutation_p.L123I	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		AATTAGCTGAGGACAACATGC	0.458000													5	103					0.000602214	0.000649039	1	1	0
GBA2	57704	broad.mit.edu	37	9	35738597	35738597	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35738597C>A	ENST00000378088.1	-	0	35				GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Missense_Mutation_p.K660N|GBA2_ENST00000545786.1_Missense_Mutation_p.K666N|GBA2_ENST00000378094.4_Missense_Mutation_p.K660N			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCATGGTCCTTGTCAAACT	0.517000													9	66					0.38729	0.388839	1	1	0
KLF3	51274	broad.mit.edu	37	4	38690303	38690303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38690303G>A	ENST00000261438.5	+	3	460	c.155G>A	c.(154-156)gGt>gAt	p.G52D	KLF3_ENST00000514033.1_Missense_Mutation_p.G52D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	52	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCAGAAGGTCTGTCGCAC	0.517000													6	48					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118441355	118441355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118441355C>T	ENST00000369209.3	-	8	973	c.869G>A	c.(868-870)cGg>cAg	p.R290Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	290							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAAAAAGGTCCGACTCTGCCG	0.473000											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	37					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173468	86173468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173468A>G	ENST00000431532.2	-	2	531	c.383T>C	c.(382-384)tTt>tCt	p.F128S	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.F167S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	167	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGACCAACAAACTTCTCCTC	0.398000													16	316					0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219268072	219268072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219268072C>T	ENST00000273062.2	+	6	925	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R196*|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	197	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTTGGGTCGAGACCTGCG	0.622000													10	20					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190099	38190099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190099G>A	ENST00000355202.4	-	5	1528	c.933C>T	c.(931-933)tgC>tgT	p.C311C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C310C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGCATTCCTTGCATTCATAGG	0.413000													59	86					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38029311	38029311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38029311C>A	ENST00000377940.3	+	5	713	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	ZPBP2_ENST00000348931.4_Missense_Mutation_p.P214T|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P141T	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	214					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTTTTGCGCCGGGGTGGAA	0.388000													4	46					3.59834e-05	4.01776e-05	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15234030	15234030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15234030G>A	ENST00000263383.3	-	4	501	c.362C>T	c.(361-363)aCa>aTa	p.T121I	ILVBL_ENST00000534378.1_Missense_Mutation_p.T14I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	121						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGGCCTGCTGTCACTGCCGC	0.612000													18	34					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7558002	7558002	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7558002G>T	ENST00000250111.4	+	5	1016	c.609_splice	c.e5+1	p.K203_splice		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	203					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GTGCTGGGAAGGTGAGTTCGT	0.502000													28	75					1.13719e-10	1.40515e-10	1	1	0
NUF2	83540	broad.mit.edu	37	1	163315595	163315595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163315595G>T	ENST00000271452.3	+	11	1214	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.S312I	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	312	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328000													6	66					2.0095e-06	2.31757e-06	1	1	0
SYNM	23336	broad.mit.edu	37	15	99672813	99672813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672813C>T	ENST00000336292.6	+	5	4365	c.4245C>T	c.(4243-4245)caC>caT	p.H1415H	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1416	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTCTGAACACATTGCCATCC	0.522000													86	127					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514329	75514329	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75514329G>A	ENST00000355774.2	-	2	2245	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MLH3_ENST00000556257.1_Missense_Mutation_p.T677M|MLH3_ENST00000556740.1_Missense_Mutation_p.T677M|MLH3_ENST00000238662.7_Missense_Mutation_p.T677M|MLH3_ENST00000380968.2_De_novo_Start_InFrame	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	677					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTTATATTCGTTCTGCAATT	0.343000								Mismatch excision repair (MMR)					38	52					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809307	47809307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809307G>A	ENST00000285106.6	-	14	2455	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	CXXC1_ENST00000412036.2_Missense_Mutation_p.R585C|CXXC1_ENST00000589940.1_Silent_p.A568A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	581					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGGGCAGGCGGCAGAAGTCA	0.612000													4	25					0	0	1	0	0
COQ2	27235	broad.mit.edu	37	4	84194771	84194771	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84194771C>A	ENST00000311469.4	-	3	570		c.e3-1		COQ2_ENST00000311461.7_Splice_Site|COQ2_ENST00000514935.1_Splice_Site|COQ2_ENST00000439031.2_Splice_Site	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase						glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TTCTTGTAACCTTAAAACATA	0.393000													6	100					0.00307968	0.00325696	1	1	0
NINL	22981	broad.mit.edu	37	20	25457246	25457246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457246G>A	ENST00000278886.6	-	17	2754	c.2681C>T	c.(2680-2682)gCc>gTc	p.A894V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGGCAGGGGCGGGGGCCGG	0.687000													7	9					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167278	23167278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23167278G>A	ENST00000389131.3	-	10	2152	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	595	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCAGGAGCCGGCGGTAGCCC	0.652000													6	15					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510153	35510153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35510153G>A	ENST00000599564.1	+	13	1604	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	GRAMD1A_ENST00000504615.2_Silent_p.T190T|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.T424T|GRAMD1A_ENST00000411896.2_Silent_p.T417T			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	424						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGTGCTGACGTACACCATCC	0.682000													9	25					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146736231	146736231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146736231G>T	ENST00000369258.4	+	7	747	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.E243*|CHD1L_ENST00000361293.5_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	243					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTGAGAAAGAATCTGAGTC	0.453000													24	52					2.79863e-10	3.44159e-10	1	1	0
HSF1	3297	broad.mit.edu	37	8	145535674	145535674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145535674C>T	ENST00000528838.1	+	9	1046	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	HSF1_ENST00000400780.4_Missense_Mutation_p.R231C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	296	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCCCCTGGTGCGTGTCAAGGA	0.721000													6	2					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45425209	45425209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45425209C>T	ENST00000331493.2	+	9	964	c.553C>T	c.(553-555)Cga>Tga	p.R185*	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.R185*(1)									TAGTAAAATTCGAAGTGGTAA	0.323000													15	33					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80921249	80921249	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80921249C>A	ENST00000376588.3	+	5	485	c.417C>A	c.(415-417)acC>acA	p.T139T	PSAT1_ENST00000347159.2_Silent_p.T139T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	139					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCCAAGCACCTGGAACCTCA	0.463000													29	259					8.58068e-18	1.11523e-17	1	1	0
CP	1356	broad.mit.edu	37	3	148928055	148928055	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148928055T>C	ENST00000264613.6	-	3	768	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	169	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCCATCTCCTTCCCCAGGACT	0.408000													12	98					0	0	1	0	0
CYP2B7P1	0	broad.mit.edu	37	19	41430189	41430189	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41430189C>T	ENST00000599198.1	+	0	66					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGGAGCTCAGCGTCCTCCTCT	0.587000													16	28					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121396201	121396201	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121396201C>A	ENST00000393667.3	-	16	9080	c.8970G>T	c.(8968-8970)caG>caT	p.Q2990H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2985H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2985					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATAAGATTCTGCAGATGAC	0.428000													6	95					3.09899e-07	3.63227e-07	1	1	0
DYM	54808	broad.mit.edu	37	18	46570554	46570554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46570554G>A	ENST00000269445.6	-	17	2338	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Silent_p.F437F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	627						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCACATATTTGAATTTCAATT	0.433000													45	86					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28389916	28389916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28389916G>A	ENST00000261609.7	-	72	11151	c.11043C>T	c.(11041-11043)cgC>cgT	p.R3681R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTGGGATGCGCAGCTCGC	0.572000													13	22					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171805	146171805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146171805G>A	ENST00000497985.1	-	7	1125	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	156					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323000													36	42					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260099	44260099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260099C>T	ENST00000315087.7	-	7	1697	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315D|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGCGTGGAAGCCGGGACGCGG	0.607000													40	61					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565309	48565309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48565309C>T	ENST00000354276.3	-	14	1530	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	PLA2G4C_ENST00000413144.2_Silent_p.T401T|PLA2G4C_ENST00000599921.1_Silent_p.T401T|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Silent_p.T411T|CTD-2265M8.2_ENST00000601548.1_RNA|CTD-2265M8.2_ENST00000596552.1_RNA|CTD-2265M8.2_ENST00000601950.1_RNA	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	401	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAACCTCCCGCGTCGGGGGCA	0.607000													11	77					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654269	196654269	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196654269A>C	ENST00000367429.4	+	7	1106	c.866A>C	c.(865-867)gAa>gCa	p.E289A	CFH_ENST00000439155.2_Missense_Mutation_p.E289A|CFH_ENST00000359637.2_Missense_Mutation_p.E225A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGGAGATGAAATCACGTAC	0.388000													68	76					0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1610942	1610942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1610942A>G	ENST00000380874.2	+	1	262	c.262A>G	c.(262-264)Acc>Gcc	p.T88A		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	88					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCGCTCATCACCATGGCCAT	0.632000													16	42					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77600087	77600087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600087C>A	ENST00000461745.1	+	8	2078	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ROBO2_ENST00000332191.8_Missense_Mutation_p.A393D|ROBO2_ENST00000487694.3_Missense_Mutation_p.A409D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	393	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCTGCCAGGCTTTAACTGTG	0.443000													23	36					3.83957e-06	4.40386e-06	1	1	0
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473000													35	44					0	0	1	0	0
ZNF222	0	broad.mit.edu	37	19	44536092	44536092	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44536092A>T	ENST00000187879.8	+	4	427	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	ZNF222_ENST00000391960.3_Missense_Mutation_p.S129C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TACCACCATAAGTAACTCTCA	0.403000													42	53					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949356	27949356	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949356C>T	ENST00000379992.2	-	6	1763	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	LINGO2_ENST00000308675.3_Silent_p.P438P	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517000													4	47					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129091500	129091500	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129091500C>A	ENST00000249344.2	+	4	361	c.321C>A	c.(319-321)gcC>gcA	p.A107A	STRIP2_ENST00000435494.2_Silent_p.A107A	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CCCAAAAGGCCTATATAATGG	0.552000													20	66					8.10497e-08	9.61437e-08	1	1	0
CDON	50937	broad.mit.edu	37	11	125873880	125873880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125873880G>T	ENST00000392693.3	-	10	2070	c.1943C>A	c.(1942-1944)tCt>tAt	p.S648Y	CDON_ENST00000263577.7_Missense_Mutation_p.S648Y|CDON_ENST00000531738.1_Missense_Mutation_p.S25Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	648	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATAAAGACTAGATGGCTCCAG	0.537000													5	46					2.7689e-08	3.31013e-08	1	1	0
DHX34	9704	broad.mit.edu	37	19	47865951	47865951	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47865951G>A	ENST00000328771.4	+	6	1942		c.e6+1		DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34							intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGTGCTGCAGGTGAGGCATGG	0.502000													3	19					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190545	50190545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50190545C>T	ENST00000335999.6	-	8	1299	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGGGGGCGCCTGGTCTG	0.657000													14	24					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197169499	197169499	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197169499G>T	ENST00000367405.4	-	1	173	c.105C>A	c.(103-105)acC>acA	p.T35T	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATGAGTATAGGTCACTTGGT	0.423000													6	109					2.7689e-08	3.31013e-08	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134498	119134498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119134498G>A	ENST00000264245.4	+	12	4254	c.3722G>A	c.(3721-3723)gGg>gAg	p.G1241E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAACCAGTGGGACCACTCAG	0.562000													11	18					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88251665	88251665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88251665G>A	ENST00000369536.5	-	8	628	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	195					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGATTGGACTGCAGTTTTTCC	0.358000													19	48					0	0	1	0	0
CRB3	0	broad.mit.edu	37	19	6466504	6466504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6466504G>A	ENST00000598494.1	+	4	715	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CRB3_ENST00000356762.3_Missense_Mutation_p.V62M|CRB3_ENST00000600229.1_Missense_Mutation_p.V62M|CRB3_ENST00000308243.7_Missense_Mutation_p.V62M			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	62					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTATCATCGTGGTCTTCTC	0.627000													22	167					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51152918	51152918	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51152918A>G	ENST00000395542.2	-	8	1300	c.1116T>C	c.(1114-1116)agT>agC	p.S372S	COBL_ENST00000395540.2_Silent_p.S347S|COBL_ENST00000441453.1_Silent_p.S347S|COBL_ENST00000265136.7_Silent_p.S347S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	311										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGATCAGGGGACTCGGTGGTG	0.572000													14	55					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105570695	105570695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105570695G>T	ENST00000258530.3	-	19	1996	c.1771C>A	c.(1771-1773)Ctg>Atg	p.L591M	APPL2_ENST00000551662.1_Missense_Mutation_p.L597M|APPL2_ENST00000539978.2_Missense_Mutation_p.L548M	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	591	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGTACTCAGAGATTCTTCT	0.393000													44	65					9.39024e-22	1.23681e-21	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113191537	113191537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113191537G>A	ENST00000401783.2	-	35	6029	c.5693C>T	c.(5692-5694)cCt>cTt	p.P1898L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1875L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1898	Sushi 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACACACAGGAGGGGAATG	0.378000													3	4					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619471	4619471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4619471C>A	ENST00000269260.2	+	4	378	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	ARRB2_ENST00000346341.2_Intron|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.L49M|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.L49M	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	49					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCTGACTACCTGAAGGACCG	0.632000													4	100					0.0215528	0.0221649	1	1	0
XPO4	64328	broad.mit.edu	37	13	21395934	21395934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:21395934G>A	ENST00000400602.2	-	9	1117	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I	XPO4_ENST00000255305.6_Missense_Mutation_p.T361I	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	361					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGAATGGCAGTTAAAACATT	0.433000													19	31					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414560	37414560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37414560T>A	ENST00000535679.1	-	2	249	c.250A>T	c.(250-252)Aaa>Taa	p.K84*	SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.K84*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.K46*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	84						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TACTTTTTTTTAGAAACAGCA	0.323000													6	50					0	0	1	0	0
MIR298	0	broad.mit.edu	37	20	57393338	57393338	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57393338G>A	ENST00000401212.1	-	0	30					NR_030580.1																						AAACCACTGGGAGAACCTCCC	0.567000													3	9					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202637	64202637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64202637C>T	ENST00000537373.1	+	6	1265	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_Missense_Mutation_p.S366F	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	366						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGGAATACATCTGTGCACCAC	0.478000													31	51					0	0	1	0	0
DOM3Z	0	broad.mit.edu	37	6	31938848	31938848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938848G>A	ENST00000375349.3	-	3	844	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DOM3Z_ENST00000337523.5_Missense_Mutation_p.R145W|DOM3Z_ENST00000375356.3_Missense_Mutation_p.R145W|DOM3Z_ENST00000478221.1_5'UTR			O77932	DOM3Z_HUMAN		145							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCCTCCTGCCGCTCATACGGT	0.642000													22	49					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10516515	10516515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10516515C>T	ENST00000444303.2	+	7	1199	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	AMPD3_ENST00000396554.3_Missense_Mutation_p.R411C	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	402					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGTGAGCTGCGTGACCTGTA	0.532000													71	86					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21655643	21655643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21655643C>T	ENST00000268389.4	-	3	563	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	168					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ACGCACACACCGGTCACATAG	0.408000													12	43					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150921997	150921997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921997C>T	ENST00000287844.2	-	3	341	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	ABCF2_ENST00000222388.2_Missense_Mutation_p.A78T	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	78						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGAGAGGCCAGGACGCCA	0.483000													21	74					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781940	128781940	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781940A>G	ENST00000529694.1	+	2	1148	c.772A>G	c.(772-774)Aac>Gac	p.N258D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.N258D|KCNJ5_ENST00000338350.4_Missense_Mutation_p.N258D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACAGACATCAACGTGGGCTT	0.577000													25	51					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6904078	6904078	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6904078C>A	ENST00000312053.4	+	8	871	c.834C>A	c.(832-834)acC>acA	p.T278T	EMR1_ENST00000250572.8_Silent_p.T278T|EMR1_ENST00000381407.5_Silent_p.T137T|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.T226T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	278	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATCCATCAACCTGTGGTCCTA	0.473000													23	57					7.33532e-06	8.36534e-06	1	1	0
TENM2	57451	broad.mit.edu	37	5	167631584	167631584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167631584G>A	ENST00000519204.1	+	18	3537	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	TENM2_ENST00000520394.1_Missense_Mutation_p.R1029H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1085H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1261H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1261H					teneurin transmembrane protein 2																		TACATCCGACGCATCTTTCCC	0.527000													17	29					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154806	5154806	+	Missense_Mutation	SNP	C	C	T	rs145163163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154806C>T	ENST00000252321.3	+	1	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	498						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ATCGTGGGCTCGCTGTGTGCC	0.607000													33	34					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155311800	155311800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155311800C>T	ENST00000368346.3	-	25	9041	c.8402G>A	c.(8401-8403)cGc>cAc	p.R2801H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2796H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2801					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAGGATAGCGGTTCCGGTG	0.463000													60	100					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8951035	8951035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8951035C>T	ENST00000326053.5	-	3	319	c.213G>A	c.(211-213)tgG>tgA	p.W71*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.W71*|C11orf16_ENST00000528998.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	71										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGGCCCCTGCCATGCTGGGT	0.527000													4	27					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549438	62549438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62549438G>T	ENST00000294168.3	+	7	805	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	202					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTGGTCAGTGGGGTAAGTGA	0.527000													5	37					0.000602214	0.000649039	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72468457	72468457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72468457C>T	ENST00000373208.1	+	4	793	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	ADAMTS14_ENST00000373207.1_Silent_p.L265L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	265	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGAGGTGCTGCTGGTGGTGGA	0.602000													24	47					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735622	18735622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735622C>T	ENST00000513874.1	-	14	2011	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	624	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGTGGGCCGTGTGGCCTA	0.617000													25	43					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1462051	1462051	+	Silent	SNP	C	C	T	rs148957868		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1462051C>T	ENST00000535453.1	+	13	3441	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.G576G|APC2_ENST00000238483.4_Silent_p.G302G|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	576					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGATGGCGCCCTGGGCT	0.632000													16	23					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14047218	14047218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14047218C>T	ENST00000538517.2	-	3	540	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	PODNL1_ENST00000254320.3_Missense_Mutation_p.E41K|PODNL1_ENST00000538371.2_Missense_Mutation_p.R99Q|PODNL1_ENST00000339560.5_Missense_Mutation_p.R101Q	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	172	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTTGAGGGTTCGCAGGCCACT	0.627000													30	50					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18502934	18502934	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502934C>T	ENST00000339007.3	-	2	1434	c.779_splice	c.e2-1	p.A261_splice	LRRC25_ENST00000595840.1_Splice_Site_p.A261_splice	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	261						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GAAGGGTGAGCCCTGGGGGGA	0.582000													4	82					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724763	49724763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49724763G>T	ENST00000551245.1	+	13	2246	c.2135G>T	c.(2134-2136)aGg>aTg	p.R712M	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	729					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAACACAAGAGGTCCTCACCT	0.617000													24	25					5.35356e-11	6.64197e-11	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170038810	170038810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170038810G>A	ENST00000284637.9	-	9	1982	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	547						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCAGCCACGCCATTTCCCT	0.582000													12	25					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107555451	107555451	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107555451C>A	ENST00000374736.3	-	41	6031		c.e41+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAAGCTCACCTGGGCCTGA	0.532000													41	79					6.57855e-14	8.37261e-14	1	1	0
DSP	1832	broad.mit.edu	37	6	7583532	7583532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583532C>T	ENST00000379802.3	+	24	6378	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCATTCCTTCGGGGTGCAGG	0.453000													18	34					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48694281	48694281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694281C>T	ENST00000544264.1	-	2	4529	c.4249G>A	c.(4249-4251)Gct>Act	p.A1417T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1417T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1417	EGF-like 1; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGGCCAGCGATGGGCTGG	0.647000													3	3					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112418619	112418619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112418619G>A	ENST00000302475.4	-	9	1715	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	MCC_ENST00000515367.2_Silent_p.H321H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.H574H	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	384					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGCAGATCCGTGTGAGTAGA	0.483000													32	55					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795662	96795662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96795662C>T	ENST00000342380.2	-	8	774	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	259					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGATGTGGACACTGGGGGCC	0.667000													16	44					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397592	76397592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76397592G>A	ENST00000284142.6	-	1	524	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	129					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCAGTGCCAGGTTACAACTT	0.338000													21	43					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70984468	70984468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70984468G>A	ENST00000357250.6	-	11	1141	c.983C>T	c.(982-984)aCa>aTa	p.T328I	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.T85I|COL9A1_ENST00000370499.4_Missense_Mutation_p.T85I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	328	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAGGTCCTGTTAATCCCTA	0.358000													16	19					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128470777	128470777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128470777C>T	ENST00000325888.8	+	1	347	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FLNC_ENST00000346177.6_Missense_Mutation_p.A29V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	29	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGACCTGGCGGAGGACGCG	0.647000													5	33					0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72122928	72122928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72122928G>A	ENST00000268483.3	-	3	563	c.242C>T	c.(241-243)aCt>aTt	p.T81I	TXNL4B_ENST00000426362.2_Missense_Mutation_p.T81I|TXNL4B_ENST00000423037.1_Missense_Mutation_p.T81I	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	81					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GAAAAAGACAGTAGATGGAAT	0.368000													53	86					0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6913035	6913035	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6913035C>T	ENST00000330590.2	-	2	239	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	68					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACGGCCGGTTCGGCAATAGCA	0.567000													3	8					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285970	99285970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285970G>A	ENST00000375241.1	-	10	1435	c.984C>T	c.(982-984)taC>taT	p.Y328Y	CDC14B_ENST00000463569.1_Silent_p.Y328Y|CDC14B_ENST00000265659.2_Silent_p.Y328Y|CDC14B_ENST00000375242.3_Silent_p.Y291Y|CDC14B_ENST00000375240.3_Silent_p.Y328Y|CDC14B_ENST00000375236.1_Silent_p.Y328Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	328	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTTCATGATGTAGCAGGCTA	0.517000													15	25					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194963	18194963	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18194963T>C	ENST00000314254.3	+	1	580	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	54			Y -> C (in dbSNP:rs1869788).			integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCCTGGGCTACCGCATGCG	0.552000													36	57					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156764	26156764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26156764C>T	ENST00000304218.3	+	1	206	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAGCTGTTGCCGCCTCCAAG	0.607000													8	33					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984158	2984158	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2984158G>A	ENST00000396946.4	-	5	775	c.372C>T	c.(370-372)caC>caT	p.H124H	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	124					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAGGCCCTCGTGGCCTTCCT	0.612000			Mis		DLBCL								4	26					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779246	64779246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779246G>T	ENST00000422803.1	+	2	952	c.638G>T	c.(637-639)aGc>aTc	p.S213I	AFTPH_ENST00000409933.1_Missense_Mutation_p.S213I|AFTPH_ENST00000238855.7_Missense_Mutation_p.S213I|AFTPH_ENST00000238856.4_Missense_Mutation_p.S213I			Q6ULP2	AFTIN_HUMAN	aftiphilin	213					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAGCCTCTTAGCACTCATAGC	0.403000													6	68					0.00307968	0.00325696	1	1	0
NCOA5	57727	broad.mit.edu	37	20	44692146	44692146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44692146G>A	ENST00000290231.6	-	7	1167	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCCCCACGCACTCCCTCC	0.587000													17	25					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139015	37139015	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139015A>C	ENST00000373509.5	+	4	728	c.355A>C	c.(355-357)Atc>Ctc	p.I119L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	210					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCGTCCTGATCCTGGAGAG	0.602000			T	BCL6	NHL								44	64					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178114	72178114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72178114G>A	ENST00000324262.4	+	6	839	c.523G>A	c.(523-525)Gag>Aag	p.E175K	CNDP2_ENST00000579847.1_Missense_Mutation_p.E175K|CNDP2_ENST00000324301.8_Missense_Mutation_p.E91K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	175						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCCTAGACGAGCTGATTTT	0.498000													35	40					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880395	39880395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880395G>A	ENST00000221265.3	-	4	507	c.177C>T	c.(175-177)gtC>gtT	p.V59V	PAF1_ENST00000221266.7_Silent_p.V49V|PAF1_ENST00000595564.1_Silent_p.V49V	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	59					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTTGTACTGGACGAACCTGG	0.552000													36	82					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35847203	35847203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35847203C>T	ENST00000314607.6	+	9	1493	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	ZMYM4_ENST00000373297.2_Silent_p.C471C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	471					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGCCTGCTTCTCTAAGT	0.428000													56	64					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105820	72105820	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72105820C>T	ENST00000398840.2	+	0	1029							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						CTGCTGGCACCGCCCGAGGCC	0.642000													6	10					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942399	77942399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77942399G>A	ENST00000393684.3	-	8	1382	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	ISM2_ENST00000429906.1_Silent_p.L338L|ISM2_ENST00000412904.1_Silent_p.L338L|ISM2_ENST00000342219.4_Silent_p.L419L|ISM2_ENST00000493585.1_3'UTR			Q6H9L7	ISM2_HUMAN	isthmin 2	419	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ATCTGGCTCAGATACTTGATT	0.602000													15	43					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5220422	5220422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5220422C>T	ENST00000419534.2	+	5	616	c.446C>T	c.(445-447)tCc>tTc	p.S149F	AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR|ARL8B_ENST00000256496.3_3'UTR			Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	0					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GTCTTCCAGTCCTTCTTGGCT	0.398000													22	43					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336303	147336303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:147336303C>T	ENST00000361727.3	+	13	2519	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	668	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGCCTCCATGGACCAG	0.498000										HNSCC(39;0.1)			60	44					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263287	65263287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65263287G>A	ENST00000389722.3	-	10	1382	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	SPTB_ENST00000556626.1_Silent_p.R443R|SPTB_ENST00000542895.1_Silent_p.R443R|SPTB_ENST00000389720.3_Silent_p.R443R|SPTB_ENST00000389721.5_Silent_p.R443R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	443					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCCACGAGGCGCTGGTTTT	0.587000													20	31					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:21462709G>A	ENST00000281523.2	-	8	1703	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGGAATTTAGTAAGGAGCAA	0.428000													4	13					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191874731	191874731	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191874731C>A	ENST00000361099.3	-	3	387		c.e3-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGACATCCTATAGGGAAA	0.393000													10	73					0.00621372	0.00652201	1	1	0
WSB2	55884	broad.mit.edu	37	12	118481168	118481168	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118481168A>G	ENST00000315436.3	-	3	338	c.197T>C	c.(196-198)tTt>tCt	p.F66S	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.F68S|WSB2_ENST00000441406.2_Missense_Mutation_p.F83S|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	66					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGCTTCAAACCCTTTAGG	0.488000													9	115					0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18286467	18286467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18286467G>A	ENST00000407280.2	+	4	511	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	148				C -> WHG (in Ref. 1; AAA36105).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ACCATTGTCTGCATGGAAGAG	0.572000													4	4					0	0	1	0	0
SSTR3	0	broad.mit.edu	37	22	37603286	37603286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37603286C>T	ENST00000328544.3	-	2	1090	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R186H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	186					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTCATGCCGCGGGGCACTCC	0.726000													4	8					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98193992	98193992	+	Missense_Mutation	SNP	C	C	T	rs72775611	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98193992C>T	ENST00000284049.3	-	34	4828	c.4679G>A	c.(4678-4680)cGa>cAa	p.R1560Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1560					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTGATGTCGGTCTTTATG	0.378000													83	142					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430973	181430973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:181430973C>T	ENST00000325404.1	+	1	1252	c.825C>T	c.(823-825)agC>agT	p.S275S	SOX2_ENST00000431565.2_Silent_p.S275S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	275					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACATGATCAGCATGTATCTCC	0.692000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						6	37					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61828083	61828083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61828083G>A	ENST00000370339.3	-	5	1998	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	YTHDF1_ENST00000370334.4_Missense_Mutation_p.R46W|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R503W	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	553										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGACTCTGCCGTTCCTGTAAA	0.448000													47	48					0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251886	38251886	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38251886C>A	ENST00000246672.3	-	5	1689	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	353					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CATTTAGGGCCTCGTTATGAC	0.642000													24	45					5.35356e-11	6.64197e-11	1	1	0
GJA9	81025	broad.mit.edu	37	1	39340514	39340514	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39340514C>T	ENST00000454994.2	-	2	1533	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.P419P|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Silent_p.P419P			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGCCACCGCGGTTTCCAAT	0.507000													15	29					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258202	25258202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25258202C>T	ENST00000264864.6	+	4	851	c.662C>T	c.(661-663)gCg>gTg	p.A221V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A125V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	221	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AACTATAATGCGATTGACCGT	0.353000													33	59					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621357	43621357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43621357A>G	ENST00000305641.5	-	1	1446	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.L23S	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	444					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGAACCCCCAAGGCTGGACT	0.488000													7	73					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779664	64779664	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779664T>C	ENST00000422803.1	+	2	1370	c.1056T>C	c.(1054-1056)tgT>tgC	p.C352C	AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_Silent_p.C352C|AFTPH_ENST00000238855.7_Silent_p.C352C|AFTPH_ENST00000238856.4_Silent_p.C352C			Q6ULP2	AFTIN_HUMAN	aftiphilin	352					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAGAACAATGTAAAACTGAAG	0.383000													34	60					0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14529285	14529285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14529285C>A	ENST00000530457.1	-	9	1107	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.D218Y|PSMA1_ENST00000396393.1_Missense_Mutation_p.D218Y|PSMA1_ENST00000418988.2_Missense_Mutation_p.D224Y|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AACTCCAAGTCTTTACCAACA	0.333000													30	55					1.08312e-15	1.39118e-15	1	1	0
DOCK8	81704	broad.mit.edu	37	9	312006	312006	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:312006T>C	ENST00000432829.2	+	6	693	c.377T>C	c.(376-378)gTc>gCc	p.V126A	DOCK8_ENST00000469391.1_Missense_Mutation_p.V126A|DOCK8_ENST00000453981.1_Missense_Mutation_p.V194A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	194					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAAGGCCCCGTCACTGCCTGT	0.567000													5	147					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764321	82764321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764321C>T	ENST00000423517.2	-	3	2882	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_ENST00000333891.8_Missense_Mutation_p.V849I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	795	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453000													76	213					0	0	1	0	0
GABBR1	0	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527000													18	39					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44104852	44104852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44104852C>T	ENST00000263776.8	+	13	1679	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	415							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGTTGACTTGAGAAAGG	0.577000													7	45					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142731109	142731109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142731109C>T	ENST00000473835.2	+	3	226	c.136C>T	c.(136-138)Cga>Tga	p.R46*	U2SURP_ENST00000493598.2_Nonsense_Mutation_p.R46*|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	46					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGTCGGACACGACCTAAGAG	0.378000													3	22					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349357	90349357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90349357G>A	ENST00000300060.6	-	2	771	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	153	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCAGCTCAGTCTTGTCAAT	0.607000													16	39					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112509781	112509781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112509781G>A	ENST00000261745.4	-	10	1202	c.954C>T	c.(952-954)cgC>cgT	p.R318R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	318						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCGGAGATGGCGAGAACTTT	0.403000													4	45					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794426	10794426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794426G>T	ENST00000449870.1	+	16	2295	c.1978G>T	c.(1978-1980)Gga>Tga	p.G660*	ILF3_ENST00000589998.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.G656*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G656*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.G660*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	656	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGCGGGCGAGGATTTGGTGG	0.652000													10	20					2.17888e-05	2.45068e-05	1	1	0
ABCD1	215	broad.mit.edu	37	X	152991339	152991339	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991339C>T	ENST00000218104.3	+	1	1017	c.618C>T	c.(616-618)gcC>gcT	p.A206A	ABCD1_ENST00000370129.4_Silent_p.A21A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	206	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGCGGCCTCTGTGGCCC	0.642000													17	29					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118948752	118948752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118948752C>T	ENST00000300793.6	+	11	1776	c.1734C>T	c.(1732-1734)agC>agT	p.S578S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	579					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGGCCGCAGCGATAGGGAGG	0.562000													41	51					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151125863	151125863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151125863G>A	ENST00000367328.1	+	8	1210	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A300T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACACGAGCACGCGGTCCGGTT	0.512000													19	28					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48757159	48757159	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48757159G>T	ENST00000285238.8	+	26	3786	c.3705_splice	c.e26-1	p.V1236_splice		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1236	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTTGGCCAGGTGACATTTGC	0.512000													9	39					3.09899e-07	3.63227e-07	1	1	0
DSC1	1823	broad.mit.edu	37	18	28725648	28725648	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28725648C>A	ENST00000257197.3	-	7	1126	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	DSC1_ENST00000257198.5_Missense_Mutation_p.D289Y|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	289	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGGATGATCTGGGATTTGT	0.408000													33	73					2.42023e-17	3.13592e-17	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145441193	145441193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145441193G>A	ENST00000369317.4	+	8	1485	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	384					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGATCCCTGCATCCTCAAC	0.383000													9	41					0	0	1	0	0
DNASE1	1773	broad.mit.edu	37	16	3706173	3706173	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3706173C>A	ENST00000246949.5	+	4	3516	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	DNASE1_ENST00000407479.1_Missense_Mutation_p.L103M|DNASE1_ENST00000414110.2_Silent_p.T23T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	103					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GGAGCGCTACCTGTTCGTGTA	0.542000													13	22					4.3838e-07	5.12524e-07	1	1	0
SRMS	6725	broad.mit.edu	37	20	62178752	62178752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62178752G>A	ENST00000217188.1	-	1	105	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	22							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGCCGCCCGCCGGCCAGAT	0.716000													58	59					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130372423	130372423	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:130372423A>C	ENST00000529410.1	+	8	798	c.319A>C	c.(319-321)Agg>Cgg	p.R107R	L3MBTL3_ENST00000526019.1_Silent_p.R82R|L3MBTL3_ENST00000533560.1_Silent_p.R82R|L3MBTL3_ENST00000368136.2_Silent_p.R107R|L3MBTL3_ENST00000368139.2_Silent_p.R82R|L3MBTL3_ENST00000361794.2_Silent_p.R107R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GATGCCTTTCAGGTTGAAGGA	0.388000													36	51					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115267955	115267955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267955C>T	ENST00000438362.2	-	15	2157		c.e15-1		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAACTCACTAAGGAGAAA	0.408000													8	96					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58024066	58024066	+	Nonsense_Mutation	SNP	C	C	T	rs149039467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58024066C>T	ENST00000225577.4	+	15	1516	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R476*|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R446*|RPS6KB1_ENST00000406116.3_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	499	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTCCAATACGACAGCCGAA	0.473000													17	32					0	0	1	0	0
IGLV11-55	0	broad.mit.edu	37	22	22556492	22556492	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22556492C>A	ENST00000390286.2	+	0	318																											TTTTGCTCATCTCTGGGCTCC	0.517000													5	67					0.014758	0.0152625	1	1	0
THBS2	7058	broad.mit.edu	37	6	169622519	169622519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622519C>T	ENST00000366787.3	-	20	3295	c.3046G>A	c.(3046-3048)Gta>Ata	p.V1016I	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1016	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAGTGTTTACGTAGAATGTG	0.522000													23	37					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96377474	96377474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96377474C>T	ENST00000602402.1	+	4	478	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	DNAJC3_ENST00000376795.6_Missense_Mutation_p.L121F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	121					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAAGGAAAACTTGATGAAGC	0.299000													4	53					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655849	48655849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655849G>A	ENST00000352832.5	+	9	2597	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S742N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	742					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGTGGACAGCAAGTACTTT	0.592000													10	62					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016897	58016897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016897G>A	ENST00000379218.2	+	7	1341	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V344M			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	344						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAATCTACTGGTGGATGCTGG	0.567000													65	92					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155744	50155744	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50155744G>A	ENST00000360565.3	+	7	2222	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	700	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACCTCTTCGCCATCAAGCG	0.701000													8	11					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114279819	114279819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:114279819G>A	ENST00000519065.1	-	3	653	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	HDAC2_ENST00000519108.1_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.Q187*|HDAC2_ENST00000368632.2_Nonsense_Mutation_p.Q63*			Q92769	HDAC2_HUMAN	histone deacetylase 2	93	Histone deacetylase.			QR -> HI (in Ref. 1; AAC50814).	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GTACATCTCTGCATCTGCTTA	0.318000													39	57					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741392	57741392	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57741392G>A	ENST00000360716.3	+	8	1100	c.879G>A	c.(877-879)ccG>ccA	p.P293P	CCDC135_ENST00000394337.4_Silent_p.P293P|CCDC135_ENST00000336825.8_Silent_p.P228P			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	293						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGGCAAAGCCGGATGCCCTGC	0.607000													13	21					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19202874	19202874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19202874C>T	ENST00000375341.3	-	12	1530	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V425M|ALDH4A1_ENST00000538839.1_Intron|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V365M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	425					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGTAGCCCACGGAGTCATCA	0.637000													21	21					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144325	91144325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91144325C>A	ENST00000371809.3	+	2	1335	c.1255C>A	c.(1255-1257)Ctc>Atc	p.L419I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	419							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGAAAAACTTCTCAATGCTTT	0.373000													13	128					7.93312e-07	9.21973e-07	1	1	0
KATNAL2	83473	broad.mit.edu	37	18	44589659	44589659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44589659G>A	ENST00000245121.5	+	7	631	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.R218Q	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	218						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATCAGGAACGACTGCTGAAA	0.458000													14	29					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107526696	107526696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107526696C>A	ENST00000265840.7	+	11	1001	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELMOD1_ENST00000443271.2_Missense_Mutation_p.L238M|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L240M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	246	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TATAACTGACCTGGCATATAA	0.378000													6	6					0.217242	0.218821	1	1	0
PLK2	10769	broad.mit.edu	37	5	57751887	57751887	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751887T>C	ENST00000274289.3	-	10	1650	c.1350A>G	c.(1348-1350)agA>agG	p.R450R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	450					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGAGTCCCTCTGACTATCA	0.453000													11	50					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95564323	95564323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95564323G>T	ENST00000325542.5	+	11	1644	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CEP57_ENST00000537677.1_Missense_Mutation_p.R442I|CEP57_ENST00000325486.5_Missense_Mutation_p.R443I|CEP57_ENST00000541150.1_Missense_Mutation_p.R460I	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	469	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAAACTGAGACCTGGAGAA	0.368000									Mosaic Variegated Aneuploidy Syndrome				6	46					2.0095e-06	2.31757e-06	1	1	0
ZNF629	23361	broad.mit.edu	37	16	30794144	30794144	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794144A>G	ENST00000262525.4	-	3	1712	c.1505T>C	c.(1504-1506)aTt>aCt	p.I502T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GACGTGGGTAATAAGGTTGGA	0.637000													48	43					0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95609489	95609489	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95609489T>C	ENST00000370203.4	+	2	323	c.32T>C	c.(31-33)gTt>gCt	p.V11A	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V11A|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCATCAGTGTTACCTGTATC	0.333000													54	85					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488000													15	38					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752103	247752103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247752103G>A	ENST00000320065.1	+	1	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGGCCTTGGCATCTATGGC	0.557000													24	145					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128675297	128675297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128675297G>A	ENST00000344954.6	+	6	981	c.593G>A	c.(592-594)gGc>gAc	p.G198D	FLI1_ENST00000429175.2_Missense_Mutation_p.G231D|FLI1_ENST00000281428.8_Missense_Mutation_p.G165D|FLI1_ENST00000534087.1_Missense_Mutation_p.G198D|FLI1_ENST00000525560.1_Missense_Mutation_p.G38D			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	231	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCTTGGGGCAATAACATG	0.408000			T	EWSR1	Ewing sarcoma								3	11					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45406895	45406895	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45406895T>G	ENST00000323030.5	+	1	377	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	31					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTCTAGTGTTTTTGGCTCTA	0.582000													22	37					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78272689	78272689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78272689C>T	ENST00000370791.3	+	5	572	c.540C>T	c.(538-540)tgC>tgT	p.C180C	FAM73A_ENST00000443751.2_Silent_p.C142C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	180						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTCATAGCTGCGCTTGTGGCA	0.348000													7	162					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433764	179433764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179433764G>A	ENST00000589042.1	-	326	77319	c.77095C>T	c.(77095-77097)Cca>Tca	p.P25699S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16634S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23131S|TTN_ENST00000359218.5_Missense_Mutation_p.P16759S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16826S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24058S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24058	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTTGTGGCACTTCTGCA	0.438000													63	77					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568090	136568090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136568090C>T	ENST00000371872.4	-	13	1873	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	SARDH_ENST00000422262.2_Missense_Mutation_p.R371H|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R539H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	539					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCCTGCGGTAGGCGTA	0.652000													7	21					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16315535	16315535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16315535G>A	ENST00000205557.7	-	2	219	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ABCC6_ENST00000575728.1_Missense_Mutation_p.R64W|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	64			R -> W.		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGGACATCCGGAGGTAGCCC	0.612000													12	28					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791675	117791675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117791675C>T	ENST00000350763.4	-	25	6544	c.6133G>A	c.(6133-6135)Gct>Act	p.A2045T	TNC_ENST00000345230.3_Missense_Mutation_p.A1408T|TNC_ENST00000542877.1_Missense_Mutation_p.A1682T|TNC_ENST00000423613.2_Missense_Mutation_p.A1772T|TNC_ENST00000346706.3_Missense_Mutation_p.A1499T|TNC_ENST00000537320.1_Missense_Mutation_p.A1408T|TNC_ENST00000340094.3_Missense_Mutation_p.A1681T|TNC_ENST00000341037.4_Missense_Mutation_p.A1863T|TNC_ENST00000535648.1_Missense_Mutation_p.A1590T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2045	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAATCCAGCAGCATATGCC	0.443000													39	52					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23450656	23450656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23450656C>T	ENST00000262713.2	-	1	1195	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.A274T	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	274	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TGGTACCGGGCGCCCACGGCG	0.716000													3	9					0	0	1	0	0
S100A4	6275	broad.mit.edu	37	1	153516392	153516392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153516392G>A	ENST00000368716.4	-	3	296	c.149C>T	c.(148-150)aCa>aTa	p.T50I	S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.T50I|S100A4_ENST00000368715.1_Missense_Mutation_p.T50I|S100A4_ENST00000354332.4_Missense_Mutation_p.T50I	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	50	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTTCATCTGTCCTTTTCTG	0.532000													8	201					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49562425	49562425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49562425C>A	ENST00000371582.4	-	4	362	c.331G>T	c.(331-333)Gga>Tga	p.G111*	DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000371588.5_Nonsense_Mutation_p.G111*			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	111					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATGTAGTTTCCTGTGGCATGT	0.323000													23	37					2.41591e-17	3.13163e-17	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3682141	3682141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3682141C>A	ENST00000344754.4	-	6	1375	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S459I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	459	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGATCACTGTCCCCGGA	0.602000													25	32					4.59853e-10	5.63411e-10	1	1	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579818	2579818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579818C>A	ENST00000397195.5	+	9	1371	c.920C>A	c.(919-921)cCt>cAt	p.P307H	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	307	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGTGGTAAACCTGGGCCATTC	0.368000													32	52					1.22384e-17	1.58917e-17	1	1	0
MEGF9	1955	broad.mit.edu	37	9	123370192	123370192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123370192C>T	ENST00000373930.3	-	5	1295	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	MEGF9_ENST00000426959.1_Missense_Mutation_p.S432N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	395	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTACAGATGCTGTCAAAATT	0.428000													50	97					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2105475	2105475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2105475A>G	ENST00000219476.3	+	6	1184	c.554A>G	c.(553-555)aAa>aGa	p.K185R	TSC2_ENST00000401874.2_Missense_Mutation_p.K185R|TSC2_ENST00000568454.1_Missense_Mutation_p.K196R|TSC2_ENST00000350773.4_Missense_Mutation_p.K185R|TSC2_ENST00000382538.6_Missense_Mutation_p.K136R|TSC2_ENST00000439673.2_Missense_Mutation_p.K148R|TSC2_ENST00000353929.4_Missense_Mutation_p.K185R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	185	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AACTTGGTCAAATTCAATAGC	0.493000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				44	97					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231117	1231117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231117C>T	ENST00000590083.1	-	9	1429	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	C19orf26_ENST00000215376.6_Silent_p.P373P|C19orf26_ENST00000382477.2_Silent_p.P399P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	399						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGGGGGCGGGCTGGCCA	0.701000										HNSCC(14;0.022)			9	15					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946551	46946551	+	Silent	SNP	G	G	A	rs142745251	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46946551G>A	ENST00000429979.1	-	3	664	c.60C>T	c.(58-60)agC>agT	p.S20S	KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Silent_p.S20S|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378797.2_Silent_p.S20S|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378787.3_Silent_p.S20S|KIAA0226L_ENST00000389908.3_Silent_p.S20S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	20										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CAGAGTGATCGCTGATCCCTT	0.507000													8	5					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323307	124323307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323307C>T	ENST00000394339.2	+	2	901	c.561C>T	c.(559-561)tgC>tgT	p.C187C	SPRY1_ENST00000339241.1_Silent_p.C187C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	187	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GTGGGAAGTGCAAGTGTGGAG	0.522000													26	43					0	0	1	0	0
TRAV3	0	broad.mit.edu	37	14	22192368	22192368	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22192368G>A	ENST00000390425.2	+	0	319																											TCAGTCTCTGGAAACCCTTAT	0.493000													24	52					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188819	24188819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24188819C>A	ENST00000265769.4	+	12	1370	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	ADAM28_ENST00000437154.2_Missense_Mutation_p.D420E|ADAM28_ENST00000540823.1_Missense_Mutation_p.D187E|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D167E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	420	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGGAGAGGACTGTGATTGTG	0.393000													15	30					0.000422831	0.000460248	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639269	18639269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18639269C>A	ENST00000380548.4	+	7	1033	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L232I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	232						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCAAAACCCTCCAGGGGAC	0.428000													5	39					3.59834e-05	4.01776e-05	1	1	0
RNF146	81847	broad.mit.edu	37	6	127607801	127607801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127607801C>T	ENST00000368314.1	+	3	467	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Missense_Mutation_p.L14F|RNF146_ENST00000309649.3_Missense_Mutation_p.L14F	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	15					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AATAAACATGCTTCCTACAAA	0.353000													24	38					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157161716	157161716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161716G>T	ENST00000231198.7	+	3	745	c.501G>T	c.(499-501)caG>caT	p.Q167H	AC026407.1_ENST00000599823.1_Silent_p.V4V	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	167					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCAACCAGACTTTAAAGG	0.478000													5	54					0.000602214	0.000649039	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69650591	69650591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69650591C>T	ENST00000435070.2	+	4	599	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CPSF6_ENST00000456847.3_Silent_p.F163F|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.F163F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATAAACAGTTCCTGAGTCAAT	0.358000													26	63					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719720	77719720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77719720G>A	ENST00000298351.4	+	23	2364		c.e23+1			NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCTCCCTCGTGAGTCCTGA	0.612000													4	11					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201846100G>A	ENST00000418596.2	-	12	1673	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512000													18	21					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797686	148797686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148797686C>A	ENST00000355220.5	+	5	642	c.540C>A	c.(538-540)ttC>ttA	p.F180L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F151L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	180						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAGAGTCCTTCTCTCCCACTG	0.562000													18	43					3.52763e-06	4.04633e-06	1	1	0
PNMA3	29944	broad.mit.edu	37	X	152226090	152226090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226090C>A	ENST00000447306.1	+	2	1014	c.678C>A	c.(676-678)tcC>tcA	p.S226S	PNMA3_ENST00000370265.4_Silent_p.S226S|PNMA3_ENST00000370264.4_Silent_p.S226S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	226					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaatgcttccataactgtgg	0.592000													10	174					5.16669e-11	6.41398e-11	1	1	0
A1CF	29974	broad.mit.edu	37	10	52566559	52566559	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52566559G>T	ENST00000395489.2	-	15	2090	c.1694C>A	c.(1693-1695)gCa>gAa	p.A565E	A1CF_ENST00000373993.1_Missense_Mutation_p.A572E|A1CF_ENST00000395495.1_Missense_Mutation_p.A517E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.A572E|A1CF_ENST00000373997.3_Missense_Mutation_p.A564E|A1CF_ENST00000374001.1_Missense_Mutation_p.A564E|A1CF_ENST00000373995.3_Missense_Mutation_p.A572E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	572					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTTGTATATGCTGCTAAGTC	0.478000													27	43					6.32553e-13	7.99037e-13	1	1	0
NISCH	11188	broad.mit.edu	37	3	52521900	52521900	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52521900G>A	ENST00000345716.4	+	16	2526	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NISCH_ENST00000479054.1_Missense_Mutation_p.A798T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	798	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CTCGGACGCCGCCAACCTGCA	0.607000													14	10					0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69279555	69279555	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69279555T>G	ENST00000336278.4	+	2	669	c.631T>G	c.(631-633)Tca>Gca	p.S211A	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	211	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ATCATTAGTATCAGATCTGCC	0.438000													8	212					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047515	99047515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047515G>A	ENST00000376586.2	+	13	1535	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D	FARP1_ENST00000595437.1_Missense_Mutation_p.G400D|FARP1_ENST00000319562.6_Missense_Mutation_p.G400D			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	400					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTGGAGAAGGTGCCGAATCT	0.617000													13	38					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158158077	158158077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158158077C>A	ENST00000313708.6	-	11	1407	c.1125_splice	c.e11+1	p.K375_splice	EBF1_ENST00000517373.1_Splice_Site_p.K367_splice|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Splice_Site_p.K344_splice	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	375					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATCCTCACCTTTGGCAAAC	0.443000			T	HMGA2	lipoma								4	27					0.014758	0.0152625	1	1	0
DDX54	79039	broad.mit.edu	37	12	113618863	113618863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113618863G>T	ENST00000314045.7	-	2	202	c.174_splice	c.e2-1	p.L59_splice	DDX54_ENST00000306014.5_Splice_Site_p.L59_splice	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	59					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGTCCCAGCTGGGAGGGA	0.637000													4	42					0.000602214	0.000649039	1	1	0
NARS	4677	broad.mit.edu	37	18	55283209	55283209	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55283209T>G	ENST00000256854.5	-	3	549		c.e3-2		NARS_ENST00000423481.2_Splice_Site	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCAAAGCCTTGGGTAGGGA	0.348000													3	49					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19446943	19446943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19446943G>A	ENST00000392313.5	+	3	353	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MAU2_ENST00000262815.8_Missense_Mutation_p.E103K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	103	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCCGCAGTTCGAAGATGTTAA	0.463000													30	58					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413994	61413994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413994C>A	ENST00000395348.3	-	5	1426	c.790G>T	c.(790-792)Gag>Tag	p.E264*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.E264*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	264					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTCAGGCTCTTTTGTGTGT	0.413000													9	206					0.0477658	0.0488009	1	1	0
STAG1	10274	broad.mit.edu	37	3	136260977	136260977	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136260977G>T	ENST00000434713.2	-	0	951				STAG1_ENST00000236698.5_Missense_Mutation_p.T152N|STAG1_ENST00000480733.1_Missense_Mutation_p.T152N|STAG1_ENST00000383202.2_Missense_Mutation_p.T152N			Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAATTCTTCAGTCATTTTTCT	0.299000													27	49					2.12542e-12	2.67336e-12	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152476032	152476032	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152476032A>T	ENST00000367255.5	-	133	24725	c.24124T>A	c.(24124-24126)Ttt>Att	p.F8042I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7654I|SYNE1_ENST00000265368.4_Missense_Mutation_p.F8042I|SYNE1_ENST00000448038.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000356820.4_Missense_Mutation_p.F2566I|SYNE1_ENST00000539504.1_Missense_Mutation_p.F197I|SYNE1_ENST00000354674.4_Missense_Mutation_p.F197I|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7971I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8042					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTACCTCAAATTTCTTTAGT	0.388000										HNSCC(10;0.0054)			9	117					0	0	1	0	0
TBC1D3P5	0	broad.mit.edu	37	17	25758240	25758240	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25758240G>A	ENST00000586223.1	+	0	2674					NR_033892.1																						CCCATTCACAGCTAGGGACAA	0.557000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31017711	31017711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31017711G>A	ENST00000375687.4	+	8	997	c.573G>A	c.(571-573)tcG>tcA	p.S191S	ASXL1_ENST00000306058.5_Silent_p.S186S|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642000			"""F, N, Mis"""		"""MDS, CMML"""								23	31					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43023931	43023931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023931C>T	ENST00000356231.3	-	11	1649	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	542						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTAGGCGCCACAACCGCCCCA	0.632000													8	64					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35166166	35166166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35166166G>T	ENST00000156471.5	-	30	3685	c.3460C>A	c.(3460-3462)Cta>Ata	p.L1154I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1154						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCCTAGATTCTTGTAT	0.388000													21	36					7.41877e-09	8.93215e-09	1	1	0
RMND1	55005	broad.mit.edu	37	6	151766610	151766610	+	Silent	SNP	G	G	A	rs150212790		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151766610G>A	ENST00000367303.4	-	2	459	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	113										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAACCCAACAGATTTGGTTTG	0.408000													62	113					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108472	45108472	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45108472G>T	ENST00000429094.2	-	10	1551	c.1047C>A	c.(1045-1047)gtC>gtA	p.V349V	NELL2_ENST00000395487.2_Silent_p.V348V|NELL2_ENST00000549027.1_Silent_p.V348V|NELL2_ENST00000437801.2_Silent_p.V399V|NELL2_ENST00000551601.1_Silent_p.V348V|NELL2_ENST00000452445.2_Silent_p.V349V|NELL2_ENST00000333837.4_Silent_p.V372V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	349	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAGAGGAATAGACTGTATTTC	0.313000													21	49					3.28513e-13	4.1605e-13	1	1	0
HECTD3	79654	broad.mit.edu	37	1	45475919	45475919	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45475919T>C	ENST00000372172.4	-	3	648	c.577A>G	c.(577-579)Aga>Gga	p.R193G		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	193					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGAGGTCTCGATCCCAGG	0.597000													12	33					0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51504821	51504821	+	Missense_Mutation	SNP	G	G	T	rs76158094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51504821G>T	ENST00000336617.3	+	4	646	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G83C	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	83					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATCTGCAGGAGGTCTTCTCCA	0.418000													20	121					7.41877e-09	8.93215e-09	1	1	0
RBM19	9904	broad.mit.edu	37	12	114383697	114383697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114383697G>A	ENST00000545145.2	-	13	1640	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	RBM19_ENST00000392561.3_Missense_Mutation_p.P521L|RBM19_ENST00000261741.5_Missense_Mutation_p.P521L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	521					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACGGCATTCGGCCCCATGAA	0.562000													14	16					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46836653	46836653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46836653G>T	ENST00000283296.7	-	12	1876	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	GPR116_ENST00000265417.7_Missense_Mutation_p.L530M|GPR116_ENST00000456426.2_Missense_Mutation_p.L388M|GPR116_ENST00000362015.4_Missense_Mutation_p.L530M|GPR116_ENST00000545669.1_De_novo_Start_InFrame	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	530	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGACTGTCAGTACTGATTCT	0.438000													31	53					4.65686e-17	6.02554e-17	1	1	0
PKN1	5585	broad.mit.edu	37	19	14561175	14561175	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14561175G>A	ENST00000242783.6	+	5	821	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R225Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	219					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTGCGGCACCACTTC	0.667000													5	7					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197261	32197261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32197261G>A	ENST00000375250.5	-	3	764	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R175C|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R175C	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	175					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R175C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCAAATGAGCGTGTCCTATTC	0.453000													37	57					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412704	4412704	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4412704C>T	ENST00000251166.4	-	15	1456	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	CORO7_ENST00000539968.1_Silent_p.S217S|CORO7_ENST00000423908.2_Silent_p.S269S|CORO7_ENST00000537233.2_Silent_p.S419S|CORO7-PAM16_ENST00000572467.1_Silent_p.S437S|CORO7_ENST00000574025.1_Silent_p.S352S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCGTGGAGGGCGAGGTCAGCG	0.662000													12	12					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563583	8563583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563583G>T	ENST00000423345.4	-	2	1629	c.1109C>A	c.(1108-1110)cCg>cAg	p.P370Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.P370Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	418	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCTGCGGGTGTCTCTT	0.667000													3	4					0.115264	0.117355	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27293046	27293046	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27293046A>C	ENST00000360131.4	+	15	2735	c.2576A>C	c.(2575-2577)aAt>aCt	p.N859T		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	859					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTGGAATTGTTACAGC	0.547000													30	38					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426981	27426981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426981G>A	ENST00000263980.3	-	12	2840	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D	SLC9A1_ENST00000545949.1_Silent_p.D416D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	755					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCGTCCTCGTCCTCCTCAG	0.617000													71	113					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622863	18622863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622863C>T	ENST00000379989.3	+	13	2104	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R607C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	607					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCCAGCAACGTCCTCATAG	0.522000													103	180					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133854925	133854925	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854925A>G	ENST00000395386.2	+	19	2852	c.2553A>G	c.(2551-2553)aaA>aaG	p.K851K	PHF20L1_ENST00000395390.2_Silent_p.K826K|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.K238K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	851							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCCCCTAAAAATGGAAGGAA	0.403000													4	50					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49685991C>T	ENST00000252826.5	+	11	1546	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R474C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R120C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	474					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672000													19	27					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149011551	149011551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149011551G>T	ENST00000333677.6	+	13	1988	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	609	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCAGGTCATAGCCGCGTACCC	0.562000													14	21					0.00316338	0.00334491	1	1	0
PTCD3	55037	broad.mit.edu	37	2	86364603	86364603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86364603G>T	ENST00000254630.7	+	24	2057	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	664						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAGCCCTAAGTAATCTAACT	0.478000													11	19					6.42651e-13	8.11738e-13	1	1	0
FOXE1	2304	broad.mit.edu	37	9	100616505	100616505	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100616505C>T	ENST00000375123.3	+	1	970	c.309C>T	c.(307-309)caC>caT	p.H103H		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	103					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCATCCGCCACAACCTCACAC	0.632000													4	37					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841867	94841867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94841867G>A	ENST00000357742.4	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.A125T|MCTP2_ENST00000451018.3_Missense_Mutation_p.A125T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	125					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGAGGCCTATGCCTCTCCTGC	0.527000													48	69					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3015421	3015421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3015421G>A	ENST00000398052.4	+	8	950	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GRK4_ENST00000398051.4_Missense_Mutation_p.A171T|GRK4_ENST00000345167.6_Missense_Mutation_p.A171T|GRK4_ENST00000504933.1_Missense_Mutation_p.A203T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	203	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTAGGTTTGCGCCTGTCAAGT	0.418000													71	132					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395947	38395947	+	Missense_Mutation	SNP	G	G	A	rs143477600		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38395947G>A	ENST00000377698.3	+	2	355	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	68					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CATTGGGCACGTGGCTGAAGG	0.617000													30	41					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349838	15349838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15349838T>C	ENST00000333590.4	-	2	299	c.215A>G	c.(214-216)cAt>cGt	p.H72R	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	72					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCCATAAGCATGGGTGACAAT	0.458000													49	84					0	0	1	0	0
PTGES3L-AARSD1	0	broad.mit.edu	37	17	41131210	41131210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131210G>A	ENST00000421990.2	-	4	739	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R132W|PTGES3L_ENST00000409446.3_Missense_Mutation_p.R94W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R71W|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R71W|PTGES3L_ENST00000453594.1_Intron	NM_001136042.2	NP_001129514.2																					TTGGTAAGCCGCGGCCAGGCC	0.517000													8	207					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62020442	62020442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62020442G>A	ENST00000435607.1	-	23	4108	c.4032C>T	c.(4030-4032)ggC>ggT	p.G1344G	SCN4A_ENST00000578147.1_Silent_p.G1344G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1344					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CATACACCATGCCCTGGATCT	0.567000													52	74					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56980711	56980711	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56980711G>T	ENST00000262031.5	+	10	1046		c.e10+1		RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000542360.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCAGCCTTCAGTGAGTATTCA	0.458000													31	67					1.26612e-14	1.61806e-14	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106741	168106741	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168106741T>G	ENST00000409195.1	+	9	8928	c.8839T>G	c.(8839-8841)Ttc>Gtc	p.F2947V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725V|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947V|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2772					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAGTGGAATTCTTGAGAAA	0.368000													14	102					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759067	13759067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13759067C>T	ENST00000265104.4	-	61	10411	c.10307G>A	c.(10306-10308)cGc>cAc	p.R3436H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGATGGCGATTCTCTTG	0.547000									Kartagener syndrome				41	69					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24031799	24031799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24031799G>A	ENST00000308724.5	-	14	2169	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.P472S	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	472					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGCACCAGTGGTTGCTACATG	0.592000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186457161	186457161	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186457161G>A	ENST00000265023.4	+	9	1295	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	KNG1_ENST00000287611.2_Silent_p.E361E|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.E325E	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	361	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TACCCTGGGAGAAAAAAATTT	0.403000													28	43					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43204139	43204139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43204139G>A	ENST00000539749.1	-	2	531	c.341C>T	c.(340-342)gCc>gTc	p.A114V	CLDN19_ENST00000296387.1_Missense_Mutation_p.A114V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A114V	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	114					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGCCCTTGGCAATGGGGTT	0.652000													16	21					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323300	17323300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17323300C>T	ENST00000529010.1	+	5	481	c.262C>T	c.(262-264)Cta>Tta	p.L88L	NUCB2_ENST00000458064.2_Silent_p.L88L|NUCB2_ENST00000323688.6_Silent_p.L88L	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	88						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTGGGAGGCTAAGCAAAGA	0.323000													25	47					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115406696C>T	ENST00000369358.4	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000359988.3_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_Missense_Mutation_p.E327K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	327						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527000													29	61					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12904597	12904597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904597T>C	ENST00000361905.4	+	9	1244	c.579T>C	c.(577-579)ggT>ggC	p.G193G	TEAD1_ENST00000526600.1_Silent_p.G112G|TEAD1_ENST00000527575.1_Silent_p.G208G|TEAD1_ENST00000334310.6_Silent_p.G197G|TEAD1_ENST00000527636.1_Silent_p.G208G|TEAD1_ENST00000361985.2_Silent_p.G208G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	208	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGCAAGGTCGCTCCATTG	0.587000													26	54					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740233	109740233	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109740233C>A	ENST00000369939.3	+	16	2442	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.A666A	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	753					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTACAAGGCCGGGGTTTCCT	0.552000													10	34					4.68919e-08	5.58064e-08	1	1	0
GHRH	2691	broad.mit.edu	37	20	35884894	35884894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35884894G>A	ENST00000373614.2	-	3	202	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GHRH_ENST00000373611.2_Missense_Mutation_p.R31W|GHRH_ENST00000237527.3_Missense_Mutation_p.R31W			P01286	SLIB_HUMAN	growth hormone releasing hormone	31					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCTGCATACCGCCGCATCCTG	0.632000													19	29					0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50368872	50368872	+	Missense_Mutation	SNP	G	G	A	rs146926693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50368872G>A	ENST00000359365.4	-	5	875	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RASSF1_ENST00000395126.3_Missense_Mutation_p.R106W|RASSF1_ENST00000357043.2_Missense_Mutation_p.R261W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R187W	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	261	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACAGCTTCCGCAAGTACACT	0.582000													17	20					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159187958	159187958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159187958G>A	ENST00000367075.3	-	14	1917	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	EZR_ENST00000337147.7_Silent_p.F583F|EZR_ENST00000392177.4_Silent_p.F551F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	583	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACAGGGCCTCGAACTCGTCGA	0.607000			T	ROS1	NSCLC								51	67					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28818246	28818246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28818246G>A	ENST00000373839.3	+	12	2224	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	PHACTR4_ENST00000373836.3_Missense_Mutation_p.D665N|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	655							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGCTCAAGATTATGACCG	0.468000													32	46					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71016832	71016832	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71016832A>T	ENST00000354624.5	+	13	2010	c.1877A>T	c.(1876-1878)gAc>gTc	p.D626V	HKDC1_ENST00000395086.2_Missense_Mutation_p.D626V	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	626					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGCCACTGACTGTGAAGGG	0.522000													10	54					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657778	1657778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1657778C>A	ENST00000324015.3	+	10	1503	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	SERPINF2_ENST00000450523.2_Missense_Mutation_p.L412I|SERPINF2_ENST00000382061.4_Missense_Mutation_p.L476I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	476					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TGACTTAAAACTTGTGCCCCC	0.612000													27	54					3.69857e-22	4.87941e-22	1	1	0
OR5H14	403273	broad.mit.edu	37	3	97868254	97868254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97868254C>A	ENST00000437310.1	+	1	85	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAACATTGCTGACAGAGTT	0.383000													53	78					5.96624e-29	7.97991e-29	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48313911	48313911	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48313911C>T	ENST00000435803.1	+	17	4672	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1550					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAATAACACTGGGGAAGGA	0.299000													53	39					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728991	15728991	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15728991G>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGCACAGGAGAACATTGGAG	0.532000													34	50					3.03874e-20	3.98683e-20	1	1	0
ESPNP	0	broad.mit.edu	37	1	17029465	17029465	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17029465G>T	ENST00000492551.1	-	0	900					NR_026567.1																						GTGCTGGAAAGCCCTGGGGAG	0.582000													4	41					0.150653	0.152692	1	1	0
RNH1	6050	broad.mit.edu	37	11	499119	499119	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:499119C>T	ENST00000534797.1	-	4	1917	c.510G>A	c.(508-510)ccG>ccA	p.P170P	RNH1_ENST00000438658.2_Silent_p.P170P|RNH1_ENST00000397615.2_Silent_p.P170P|RNH1_ENST00000533410.1_Silent_p.P170P|RNH1_ENST00000397604.3_Silent_p.P170P|RNH1_ENST00000356187.5_Silent_p.P170P|RNH1_ENST00000397614.1_Silent_p.P170P|RNH1_ENST00000354420.2_Silent_p.P170P			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	170			P -> L (in dbSNP:rs17585).		mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGAAGTCCGGCTTGGCCC	0.647000													8	27					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105297	44105297	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105297G>T	ENST00000267812.3	-	6	1007	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	259						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AATGCAGCCAGGGATCGCTTG	0.438000													67	165					8.21609e-47	1.11026e-46	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	34985313	34985313	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34985313A>C	ENST00000310974.4	-	16	1435	c.1291T>G	c.(1291-1293)Tgg>Ggg	p.W431G		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	431						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGACACCCCACATATCACTA	0.264000													5	56					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34810870	34810870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34810870C>T	ENST00000299505.6	+	3	1427	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	185										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTGACTCATGCGTTACAGAAG	0.527000													7	114					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230668856	230668856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230668856A>G	ENST00000283943.5	-	18	2691	c.2513T>C	c.(2512-2514)tTa>tCa	p.L838S	TRIP12_ENST00000389045.3_Missense_Mutation_p.L568S|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.L886S	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	838					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACACCAAATAATGTCTTAAT	0.388000													7	102					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74203795	74203795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74203795C>T	ENST00000396467.1	-	5	548	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	RPL7_ENST00000396466.1_Missense_Mutation_p.R137Q|RPL7_ENST00000352983.2_Missense_Mutation_p.R177Q|RPL7_ENST00000396465.1_Missense_Mutation_p.R137Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	177					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACCAAGAGATCGAGCAATCAA	0.388000													16	28					0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101912021	101912021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101912021T>C	ENST00000421367.2	-	11	3621	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ERLIN1_ENST00000407654.3_Missense_Mutation_p.N305S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	303					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACGAACATGTTAGGGATGTT	0.468000													7	74					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61392000	61392000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61392000G>A	ENST00000424789.2	+	8	1193	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	TANC2_ENST00000389520.4_Missense_Mutation_p.A397T|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	397							binding	p.A397T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAGACAGATCGCCTCAGACAG	0.473000													36	76					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99699526	99699526	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99699526A>C	ENST00000354649.3	+	5	1878	c.1163A>C	c.(1162-1164)gAg>gCg	p.E388A	NUTM2G_ENST00000372322.3_Missense_Mutation_p.E388A|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GACATCATGGAGGAGCTGCTG	0.637000													5	71					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151779496	151779496	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151779496C>A	ENST00000367294.3	+	3	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	61							protein binding	p.L61I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358000													37	51					5.71845e-15	7.32261e-15	1	1	0
SIMC1	375484	broad.mit.edu	37	5	175717816	175717816	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717816C>A	ENST00000443967.1	+	4	1639	c.1232C>A	c.(1231-1233)cCt>cAt	p.P411H	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.P430H|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		CCTGCCAAACCTGGGTCTGCC	0.507000													19	35					3.62473e-10	4.44982e-10	1	1	0
EGFR	1956	broad.mit.edu	37	7	55238146	55238146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55238146C>T	ENST00000344576.2	+	16	2272	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTCTTCTGCCGTCAGAGTTT	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	56					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11705621	11705621	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11705621T>C	ENST00000353047.6	-	6	740	c.487A>G	c.(487-489)Aca>Gca	p.T163A	CTSB_ENST00000533455.1_Missense_Mutation_p.T163A|CTSB_ENST00000534510.1_Missense_Mutation_p.T163A|CTSB_ENST00000453527.2_Missense_Mutation_p.T163A|CTSB_ENST00000531089.1_Missense_Mutation_p.T163A|CTSB_ENST00000434271.1_Missense_Mutation_p.T163A|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.T163A|CTSB_ENST00000345125.3_Missense_Mutation_p.T163A	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	163					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTTTTCTTGTCCAGAAGTTC	0.488000													41	32					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242918	140242918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242918C>T	ENST00000502505.1	-	1	306	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron																							TTAGTGCTCACGTTGCTGCTG	0.642000													14	15					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706505	84706505	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84706505T>G	ENST00000286744.5	+	30	5247	c.5023T>G	c.(5023-5025)Tgt>Ggt	p.C1675G	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1675	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTAATTTGTGTTCTCTAGA	0.383000													9	108					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890837	70890837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70890837G>A	ENST00000264436.3	-	16	2345	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.A634V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	634					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTGGTGGCGGCTTTGCTTGT	0.522000													21	28					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029758	68029758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68029758C>T	ENST00000304271.6	-	4	1107	c.705G>A	c.(703-705)aaG>aaA	p.K235K	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	235	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGCATGTGCTTGGAAGGAC	0.582000													31	75					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43011309	43011309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43011309C>T	ENST00000535468.1	-	17	3570	c.3484G>A	c.(3484-3486)Gct>Act	p.A1162T	CUL7_ENST00000265348.3_Missense_Mutation_p.A1078T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1078					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGAAGACAGCTTCCTGACAC	0.607000													5	12					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63119776	63119776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63119776G>A	ENST00000251157.5	-	3	232	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	DOCK7_ENST00000340370.5_Missense_Mutation_p.H67Y|DOCK7_ENST00000404627.2_Missense_Mutation_p.H67Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	67					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAAAGGATGAGTAATGAGG	0.428000													20	27					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49437698	49437698	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49437698C>T	ENST00000301067.7	-	22	5271	c.5272G>A	c.(5272-5274)Ggg>Agg	p.G1758R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTCTTGCGCCCTCGCCGCTGT	0.587000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	48					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932403	155932403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932403C>T	ENST00000368316.1	-	13	1468	c.998G>A	c.(997-999)cGc>cAc	p.R333H	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R333H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R360H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R362H|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R361H			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	361	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.R333H(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGAAGCGTTTGTCTCG	0.577000													40	54					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122718703	122718703	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122718703T>C	ENST00000306467.5	-	12	2141	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	CEP120_ENST00000328236.5_Missense_Mutation_p.I613V|CEP120_ENST00000306481.6_Missense_Mutation_p.I587V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	613						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAGATAAAAATCTCACGCATT	0.279000													15	21					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173300	112173300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112173300A>C	ENST00000457016.1	+	16	2389	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K670T|APC_ENST00000508376.2_Missense_Mutation_p.K670T			P25054	APC_HUMAN	adenomatous polyposis coli	670	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACACTTAAAATCTCATAGT	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	43					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896419	75896419	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896419A>G	ENST00000355264.4	-	3	727	c.416T>C	c.(415-417)aTt>aCt	p.I139T	AP3M1_ENST00000372745.1_Missense_Mutation_p.I139T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	139					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGAGCGTAGAATTGTTGGTGG	0.338000													4	53					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79357584	79357584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79357584G>A	ENST00000350881.2	+	8	1244	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A261T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	352	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGATGTGACGCCTGCCCAGT	0.498000													5	48					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791247	15791247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15791247G>A	ENST00000550308.1	+	5	823	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R148H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCGCCACCGTCGGATGCTG	0.547000													5	14					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179921	90179921	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90179921C>A	ENST00000370454.4	+	3	2047	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	598						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGAGCTGGTCCACTGTGACCT	0.463000													21	63					4.35082e-09	5.25983e-09	1	1	0
LRRC49	54839	broad.mit.edu	37	15	71341896	71341896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71341896G>A	ENST00000260382.5	+	16	2266	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	LRRC49_ENST00000560158.2_Missense_Mutation_p.R357H|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.R625H|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674H|LRRC49_ENST00000544974.2_Missense_Mutation_p.R659H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	669						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATAGAAATTCGCAATAAAAAT	0.368000													42	66					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216597	26216597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26216597G>A	ENST00000244601.3	-	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	92					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S92C(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GATCTCCCTGGAGGTAATGGT	0.582000													7	74					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336707	3336707	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3336707G>A	ENST00000248384.1	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	143					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGCTCATGATGGCGGTGTAGT	0.567000													3	39					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232249	32232249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32232249C>T	ENST00000346541.3	+	12	2149	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R548W|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R86W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R538W|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.R529W	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	538						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGACTGGGAGCGGCACCACCG	0.652000													31	38					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35076575	35076575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35076575C>T	ENST00000378643.3	-	8	1421	c.930G>A	c.(928-930)ttG>ttA	p.L310L		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	310					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.L310F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					27	50					0	0	1	0	0
ABHD12B	145447	broad.mit.edu	37	14	51347289	51347289	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51347289G>T	ENST00000337334.2	+	4	470	c.455_splice	c.e4+1	p.R152_splice	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.R45_splice|ABHD12B_ENST00000353130.1_Splice_Site_p.R75_splice|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	152							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCAGAACACAGGTCAGTGGCT	0.483000													9	125					4.68919e-08	5.58064e-08	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62320617	62320617	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62320617T>G	ENST00000261517.5	-	6	461	c.388A>C	c.(388-390)Aca>Cca	p.T130P	VPS13C_ENST00000395896.4_Missense_Mutation_p.T130P|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	130					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTGAATGTGTGCCTGCATCC	0.333000													21	48					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201629	24201629	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201629A>C	ENST00000536471.1	-	3	737	c.479T>G	c.(478-480)cTc>cGc	p.L160R	CNR2_ENST00000374472.4_Missense_Mutation_p.L160R			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	160					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TAGTGCTGAGAGGACCCACAT	0.587000													11	40					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012358	134012358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134012358G>A	ENST00000338492.4	+	8	858	c.694G>A	c.(694-696)Gag>Aag	p.E232K	DPYSL4_ENST00000368627.1_Missense_Mutation_p.E132K|DPYSL4_ENST00000368629.1_Missense_Mutation_p.E132K	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	232					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGGTGGAGGCTGAGGC	0.657000													8	18					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41554926	41554926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41554926A>G	ENST00000378142.4	+	3	324	c.40A>G	c.(40-42)Agc>Ggc	p.S14G	CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S14G|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	14						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACTTCAGTCAGCAGCTGGCC	0.428000													6	86					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488739	44488739	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44488739A>G	ENST00000425708.2	-	7	2765	c.2424T>C	c.(2422-2424)caT>caC	p.H808H	ZNF445_ENST00000396077.2_Silent_p.H808H			P59923	ZN445_HUMAN	zinc finger protein 445	808					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAATCCTCTGATGTCGGTAGA	0.443000													9	74					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170013930G>T	ENST00000263816.3	-	64	12255	c.11970C>A	c.(11968-11970)tcC>tcA	p.S3990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358000													14	26					4.36969e-10	5.35656e-10	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6520955	6520955	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6520955T>G	ENST00000263125.5	-	12	1451	c.1353_splice	c.e12+1	p.K451_splice	PRKCQ_ENST00000397176.2_Splice_Site_p.K451_splice|PRKCQ_ENST00000539722.1_Splice_Site_p.K326_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	451	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCATACCTTGGTCTGGAA	0.507000													18	31					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47242458	47242458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242458G>A	ENST00000371941.3	-	40	4967	c.4945C>T	c.(4945-4947)Cgc>Tgc	p.R1649C	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1649					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCAGAGGCGGTAGAGGCTG	0.587000													4	6					0	0	1	0	0
CYCS	0	broad.mit.edu	37	7	25163588	25163588	+	Missense_Mutation	SNP	C	C	T	rs11548772		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25163588C>T	ENST00000305786.2	-	2	320	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CYCS_ENST00000409409.1_Missense_Mutation_p.A51T|CYCS_ENST00000409764.1_Missense_Mutation_p.A51T	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	51					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TTATTGGCGGCTGTGTAAGAG	0.458000													18	47					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37392110	37392110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37392110G>T	ENST00000265107.4	+	4	340	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E62*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	62										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGCAAGAGAAAAAGAGGA	0.303000													18	55					3.32936e-07	3.90007e-07	1	1	0
ARSH	347527	broad.mit.edu	37	X	2951115	2951115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2951115G>T	ENST00000381130.2	+	9	1378	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	460						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAACAGGTGCCTGCTA	0.453000													10	104					6.40141e-05	7.11719e-05	1	1	0
RABL6	55684	broad.mit.edu	37	9	139718007	139718007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139718007C>T	ENST00000371663.4	+	2	436	c.161C>T	c.(160-162)aCg>aTg	p.T54M	RABL6_ENST00000371671.4_Missense_Mutation_p.T54M|RABL6_ENST00000357466.2_Missense_Mutation_p.T54M|RABL6_ENST00000311502.7_Missense_Mutation_p.T54M|RABL6_ENST00000432842.2_Missense_Mutation_p.T16M	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		GACAGGAACACGGGCAAGACA	0.562000													5	18					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37297471	37297471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297471C>A	ENST00000233099.5	-	7	924	c.829G>T	c.(829-831)Gga>Tga	p.G277*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G277*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	277							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGCAGAAATCCTGTGGCCATG	0.403000													14	112					1.49906e-05	1.69169e-05	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67004269	67004269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67004269C>T	ENST00000340001.4	-	24	3466	c.3255G>A	c.(3253-3255)atG>atA	p.M1085I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1085I|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1085I|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1085					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTATTTGCATTAGCAGGA	0.383000													30	70					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101018281	101018281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101018281C>A	ENST00000360863.6	-	16	2612	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	RGS22_ENST00000523287.1_Missense_Mutation_p.Q625H|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.Q794H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	806					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATGCAAAGCCTGTAGCTTTC	0.368000													5	51					0.014758	0.0152625	1	1	0
HERC2	8924	broad.mit.edu	37	15	28447534	28447534	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28447534T>G	ENST00000261609.7	-	46	7547	c.7439A>C	c.(7438-7440)aAg>aCg	p.K2480T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2480					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGAGAGACTTCAGGGCAAA	0.562000													12	12					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133749118	133749118	+	Missense_Mutation	SNP	C	C	T	rs149542788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133749118C>T	ENST00000253861.4	+	18	2791	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	EXOC4_ENST00000545148.1_Missense_Mutation_p.T531M|EXOC4_ENST00000541309.1_Missense_Mutation_p.T209M|EXOC4_ENST00000539845.1_Missense_Mutation_p.T820M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	921					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGAAGTACACGGAGCTGGAG	0.572000													14	31					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528897	24528897	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24528897T>C	ENST00000342740.5	+	22	1978	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	608										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATCGGAACAATACATCTGCCC	0.592000													8	25					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498525	59498525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498525G>A	ENST00000038176.3	-	29	2693	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	NSMAF_ENST00000427130.2_Silent_p.G858G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	827					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				cattaagacagccatctgttc	0.463000													33	56					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753948	133753948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133753948C>T	ENST00000318560.5	+	8	1798	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	473	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGAACTCATGCGAGCATGTAA	0.502000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								60	76					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199408	89199408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89199408G>A	ENST00000295908.6	-	2	717	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PPM1K_ENST00000506423.1_Missense_Mutation_p.R110W|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.R110W	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	110	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AAGTCAAACCGATCTTCATTC	0.498000													9	23					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6746508	6746508	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6746508C>T	ENST00000230859.6	+	7	806	c.677C>T	c.(676-678)tCg>tTg	p.S226L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	226	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TACAGACCGTCGATGCTGTGC	0.542000													30	60					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44495784	44495784	+	Nonsense_Mutation	SNP	C	C	T	rs141510834	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44495784C>T	ENST00000270014.2	+	3	228	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R34*|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R45*	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	34	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.542000													46	93					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612230C>T	ENST00000368148.3	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1570T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453000													36	70					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34143831	34143831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34143831C>A	ENST00000348547.2	+	9	822	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	ERGIC3_ENST00000357394.4_Missense_Mutation_p.L254M|ERGIC3_ENST00000279052.6_Missense_Mutation_p.L254M|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000447986.1_Missense_Mutation_p.L264M	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	249					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CATCCAGCACCTGTCATTTGG	0.572000													18	137					2.94398e-08	3.51695e-08	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77473077	77473077	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77473077C>A	ENST00000560626.2	-	4	1667	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.D398Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.D398Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	398	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTGATGAATCTTTATCCTGA	0.413000													6	123					3.59834e-05	4.01776e-05	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6959355	6959355	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6959355A>G	ENST00000389658.3	-	54	7856	c.7763T>C	c.(7762-7764)tTg>tCg	p.L2588S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2588	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCCTGACCAAGGAGATGGA	0.582000													6	70					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396684	396684	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:396684C>A	ENST00000331563.2	+	2	385	c.309C>A	c.(307-309)acC>acA	p.T103T	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	103					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACAAGACCTCGGTGAGCG	0.672000													9	12					0.000442599	0.00048047	1	1	0
MKI67IP	0	broad.mit.edu	37	2	122485383	122485383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122485383T>C	ENST00000285814.4	-	7	871	c.799A>G	c.(799-801)Ata>Gta	p.I267V	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		267	Interaction with MKI67.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACACAGGATATGGGCTGTTTG	0.358000													6	122					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443996	150443996	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150443996C>A	ENST00000401000.4	+	10	2559	c.2494C>A	c.(2494-2496)Ctg>Atg	p.L832M	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L832M|RPRD2_ENST00000369068.4_Missense_Mutation_p.L858M			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	858	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAATCTATCCTGAAATCAAG	0.468000													25	32					2.48779e-11	3.09936e-11	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652220	121652220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121652220G>A	ENST00000393386.2	+	12	3531	c.3120G>A	c.(3118-3120)gcG>gcA	p.A1040A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1040					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATAAGGCGCTTTCTAAAA	0.383000													25	72					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55560968	55560968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55560968G>A	ENST00000294383.6	-	51	6162	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	USP24_ENST00000407756.1_Nonsense_Mutation_p.R1895*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2055					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448000													8	19					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354296	98354296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98354296G>T	ENST00000264972.5	+	12	1774	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.S213I|ZAP70_ENST00000442208.1_Missense_Mutation_p.S394I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	520	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TCCAGCCGCAGCGATGTCTGG	0.652000													10	145					0.000978159	0.00105116	1	1	0
MED24	9862	broad.mit.edu	37	17	38178736	38178736	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38178736G>T	ENST00000394126.1	-	21	2927	c.2507_splice	c.e21-1	p.L837_splice	MED24_ENST00000501516.3_Splice_Site_p.L831_splice|MED24_ENST00000356271.3_Splice_Site_p.L799_splice|MED24_ENST00000394128.2_Splice_Site_p.L812_splice|MED24_ENST00000394127.2_Splice_Site_p.L799_splice			O75448	MED24_HUMAN	mediator complex subunit 24	812					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACGGCCAGCCTGGCAAAG	0.622000													3	11					0.115264	0.117355	1	1	0
NAMPT	10135	broad.mit.edu	37	7	105909631	105909631	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105909631T>A	ENST00000222553.3	-	5	882	c.575A>T	c.(574-576)gAt>gTt	p.D192V	NAMPT_ENST00000354289.4_Missense_Mutation_p.D192V|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	192					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAGCCAAAATCATGTAACTT	0.363000													47	24					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173780371	173780371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173780371C>T	ENST00000356198.2	-	3	352	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	CENPL_ENST00000345664.6_Missense_Mutation_p.G23S|CENPL_ENST00000367710.3_Missense_Mutation_p.G23S	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	23					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTGGCACCTATAAAGTAA	0.448000													60	71					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692973	89692973	+	Missense_Mutation	SNP	G	G	T	rs9651492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89692973G>T	ENST00000371953.3	+	5	1814	c.457G>T	c.(457-459)Gat>Tat	p.D153Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	153	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D153Y(2)|p.D153N(1)|p.D153fs*27(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGGCCCTAGATTTCTATGG	0.378000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	57					7.26314e-15	9.28782e-15	1	1	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443000													44	66					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47086853	47086853	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47086853C>A	ENST00000374312.1	+	3	489	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	NPY4R_ENST00000395716.1_Missense_Mutation_p.L24M	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AAGCAAACCCCTGGGCACCCC	0.507000													13	90					6.72482e-11	8.32712e-11	1	1	0
SENP6	26054	broad.mit.edu	37	6	76412580	76412580	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412580A>G	ENST00000370014.3	+	19	3127	c.2508A>G	c.(2506-2508)gtA>gtG	p.V836V	SENP6_ENST00000447266.2_Silent_p.V836V|SENP6_ENST00000370010.2_Silent_p.V829V|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	836	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCATAGCTGTAATTGATTCCA	0.368000													3	76					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78693448	78693448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78693448C>T	ENST00000334082.6	-	7	2139	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	HOMER1_ENST00000282260.6_Missense_Mutation_p.E103K|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.E59K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	233					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTAACACATTCAAGTTCAGTC	0.328000													6	90					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17102653	17102653	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17102653C>T	ENST00000361272.4	-	2	307	c.9G>A	c.(7-9)gcG>gcA	p.A3A	CNOT7_ENST00000523917.1_Silent_p.A3A|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	3					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTACAGTTGCCGCTGGCATAG	0.353000													15	37					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30951901	30951901	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30951901G>A	ENST00000311813.4	+	1	432	c.377G>A	c.(376-378)cGc>cAc	p.R126H	AQP1_ENST00000509504.1_Missense_Mutation_p.R303H|AQP1_ENST00000434909.2_Missense_Mutation_p.R186H	NM_198098.2	NP_932766.1			aquaporin 1									p.R126H(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCGCTTGGCCGCAATGACGTG	0.612000													28	97					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19550001	19550001	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19550001G>T	ENST00000477853.1	-	19	2307	c.2265C>A	c.(2263-2265)acC>acA	p.T755T	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.T754T|EMC1_ENST00000375208.3_Silent_p.T733T	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		TGCCAATAAAGGTGCGCTCAT	0.542000													39	55					1.58521e-26	2.11156e-26	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75969777	75969777	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75969777T>C	ENST00000274364.6	+	26	3507	c.3209_splice	c.e26-1	p.P1070_splice	IQGAP2_ENST00000396234.3_Splice_Site_p.P566_splice|IQGAP2_ENST00000502745.1_Splice_Site_p.P566_splice|IQGAP2_ENST00000379730.3_Splice_Site_p.P572_splice	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1070	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATATGTAGTTATGGATTGA	0.363000													7	76					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180056829	180056829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180056829C>T	ENST00000367607.3	+	32	6820	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2134						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACCCAAGATCAAACCCCTCA	0.393000													4	5					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748509	43748509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43748509C>T	ENST00000425836.2	+	6	1003	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.R335C|VEGFA_ENST00000518689.1_Missense_Mutation_p.R155C|VEGFA_ENST00000523873.1_Missense_Mutation_p.R155C|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.R155C|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.R335C|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	155					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAACGAAAGCGCAAGAAATC	0.547000													28	54					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623025	61623025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61623025C>A	ENST00000583023.1	+	14	2758	c.2747C>A	c.(2746-2748)cCc>cAc	p.P916H	KCNH6_ENST00000456941.2_Missense_Mutation_p.P827H|KCNH6_ENST00000314672.5_Missense_Mutation_p.P880H|KCNH6_ENST00000581784.1_Missense_Mutation_p.P827H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	916					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AACTCCTCCCCCAGGATGCCT	0.597000													6	51					5.9392e-07	6.91975e-07	1	1	0
OR7A10	390892	broad.mit.edu	37	19	14952390	14952390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952390C>A	ENST00000248058.1	-	1	299	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAAAGCACATCTGGGTGATGC	0.483000													4	40					0.150653	0.152692	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66465424	66465424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66465424C>T	ENST00000383703.3	-	5	1170	c.567G>A	c.(565-567)tcG>tcA	p.S189S	LRIG1_ENST00000273261.3_Silent_p.S189S			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	189						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGTTAGCAGCGACCGTGACA	0.502000													29	44					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369121	78369121	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78369121G>A	ENST00000278550.7	-	34	8754	c.8292C>T	c.(8290-8292)agC>agT	p.S2764S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGCCCATCTCGCTCTGTCTCA	0.512000													90	194					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569603	116569603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116569603C>A	ENST00000369503.4	+	5	818	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SLC22A15_ENST00000369502.1_Missense_Mutation_p.L230M	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	230					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTAGCCATTCTGGTTAACCT	0.443000													8	101					3.09899e-07	3.63227e-07	1	1	0
WDR63	126820	broad.mit.edu	37	1	85589885	85589885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85589885T>C	ENST00000294664.6	+	19	2243	c.2063T>C	c.(2062-2064)aTt>aCt	p.I688T	WDR63_ENST00000370596.1_Missense_Mutation_p.I649T|WDR63_ENST00000326813.8_Missense_Mutation_p.I649T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	688										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACGACATTATTCTCACGGTT	0.443000													60	134					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489739	100489739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489739G>A	ENST00000471714.1	-	61	4671	c.4562C>T	c.(4561-4563)tCt>tTt	p.S1521F	ABI3BP_ENST00000383691.4_Missense_Mutation_p.S773F|ABI3BP_ENST00000284322.5_Missense_Mutation_p.S819F			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	819						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGTTTGACAGAGTCAGTAAT	0.532000													39	63					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39285629	39285629	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39285629A>G	ENST00000425054.2	-	3	427	c.428T>C	c.(427-429)cTg>cCg	p.L143P	KCNK16_ENST00000373229.5_Missense_Mutation_p.L143P|KCNK16_ENST00000373227.4_Missense_Mutation_p.L143P|KCNK16_ENST00000437525.2_Missense_Mutation_p.L143P|KCNK16_ENST00000507712.1_Missense_Mutation_p.L78P	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTGTGCCCAGGTGGTTGAG	0.602000													3	9					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131822515	131822515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131822515C>T	ENST00000245414.4	-	5	644	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Missense_Mutation_p.R129Q	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	129					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTTAGCATCTCGGCTGGACTT	0.592000													31	66					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671904	99671904	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99671904G>T	ENST00000336292.6	+	5	3456	c.3336G>T	c.(3334-3336)caG>caT	p.Q1112H	SYNM_ENST00000560674.1_Missense_Mutation_p.Q827H|SYNM_ENST00000328642.7_Missense_Mutation_p.Q1112H|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1113	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTTTGCCCAGTCACAGGTGC	0.622000													3	9					0.004672	0.0049138	1	1	0
TMX4	56255	broad.mit.edu	37	20	7980487	7980487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:7980487C>T	ENST00000246024.2	-	4	574	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACGATAACGGCGGAATATCCC	0.388000													20	40					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134067	153134067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153134067C>T	ENST00000370060.1	-	13	1684	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	L1CAM_ENST00000361981.3_Missense_Mutation_p.A494T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A499T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A494T|L1CAM_ENST00000361699.4_Missense_Mutation_p.A499T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A501T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A501T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	499	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGGCAGCCAGGCAGAAG	0.557000													22	44					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38899416G>C	ENST00000252530.5	+	8	963	c.944G>C	c.(943-945)cGg>cCg	p.R315P	FAM98C_ENST00000588262.1_Silent_p.P181P|FAM98C_ENST00000343358.7_Missense_Mutation_p.R233P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562000													9	61					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132099458	132099458	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132099458C>T	ENST00000296873.7	-	4	757	c.474G>A	c.(472-474)acG>acA	p.T158T	SEPT8_ENST00000458488.2_Silent_p.T158T|SEPT8_ENST00000378719.2_Silent_p.T158T|SEPT8_ENST00000378706.1_Silent_p.T158T|SEPT8_ENST00000378721.4_Silent_p.T156T|SEPT8_ENST00000448933.1_Silent_p.T98T|SEPT8_ENST00000378699.2_Silent_p.T98T|SEPT8_ENST00000378701.1_Silent_p.T156T	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	158					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGTGGGCGTGATGAAGT	0.517000													73	134					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601540	61601540	+	Silent	SNP	C	C	T	rs140752880		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61601540C>T	ENST00000583023.1	+	2	128	c.117C>T	c.(115-117)tgC>tgT	p.C39C	KCNH6_ENST00000314672.5_Silent_p.C39C|KCNH6_ENST00000581784.1_Silent_p.C39C|KCNH6_ENST00000580652.1_Silent_p.C39C|KCNH6_ENST00000456941.2_Silent_p.C39C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	39					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGAGAACTGCGCCATCATTT	0.597000													8	179					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40890006	40890006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40890006C>T	ENST00000291823.2	-	2	790	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	169	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTCACGTAGCGCACCTCGCT	0.642000													29	36					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504913	151504913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504913C>T	ENST00000317605.4	+	1	1837	c.732C>T	c.(730-732)ggC>ggT	p.G244G	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	244					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGATGGGCGGCTGCCGAA	0.637000													7	24					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337581	104337581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104337581C>T	ENST00000299767.5	+	14	2138	c.1956C>T	c.(1954-1956)taC>taT	p.Y652Y		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	652					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCAGCCAGTACGGATGGTCTG	0.473000													15	17					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757975	99757975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99757975C>T	ENST00000360039.4	-	4	1429	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S284N|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S346N|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	346					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCAGTCCACTGTTGCTGAC	0.612000													49	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616403	179616403	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179616403G>T	ENST00000360870.5	-	46	10946	c.10724C>A	c.(10723-10725)tCt>tAt	p.S3575Y	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3570	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACTTCCAGAATCTCTGTC	0.403000													14	126					1.49906e-05	1.69169e-05	1	1	0
TMEM47	83604	broad.mit.edu	37	X	34657422	34657422	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34657422G>T	ENST00000275954.3	-	2	567	c.309C>A	c.(307-309)atC>atA	p.I103I		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	103						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCCACGCAGATAGAAATCA	0.428000													3	6					0.00024832	0.0002712	1	1	0
PMEL	6490	broad.mit.edu	37	12	56351722	56351722	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351722C>A	ENST00000548747.1	-	5	1278	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	PMEL_ENST00000548493.1_Missense_Mutation_p.A206S|PMEL_ENST00000449260.2_Missense_Mutation_p.A206S|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.A206S|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.A120S|PMEL_ENST00000552882.1_Missense_Mutation_p.A206S|PMEL_ENST00000536427.1_Missense_Mutation_p.A206S|PMEL_ENST00000539511.1_Missense_Mutation_p.A120S			P40967	PMEL_HUMAN	premelanosome protein	206					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGTGAAGGCTGAGCTGGAA	0.557000													22	38					8.10497e-08	9.61437e-08	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144871856	144871856	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871856C>A	ENST00000369359.4	-	35	5552	c.5514G>T	c.(5512-5514)aaG>aaT	p.K1838N	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1787N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1702N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1702					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTAGCCAGCTTGGGTATGG	0.488000			T	PDGFRB	MPD								26	70					4.72057e-08	5.61655e-08	1	1	0
CAND1	55832	broad.mit.edu	37	12	67675766	67675766	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67675766G>T	ENST00000545606.1	+	2	582	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	49					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAGGAAAGTAGTGAAAAT	0.313000													7	65					1.12685e-05	1.27857e-05	1	1	0
ATP2C2	9914	broad.mit.edu	37	16	84444186	84444186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84444186G>A	ENST00000416219.2	+	5	519	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.V144M			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	144					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGCTTGTCGTGGTCACTGT	0.582000													26	67					0	0	1	0	0
SIRT7	51547	broad.mit.edu	37	17	79872022	79872022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79872022G>T	ENST00000328666.6	-	8	900	c.838C>A	c.(838-840)Ctc>Atc	p.L280I		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	280	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGCACCAGAGGCGTGGGTAC	0.582000													18	42					3.52763e-06	4.04633e-06	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72992774	72992774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992774G>T	ENST00000268489.5	-	2	1943	c.1271C>A	c.(1270-1272)gCt>gAt	p.A424D	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	424					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGACTGGAAGCCAGAGGCCC	0.607000													64	104					1.02487e-32	1.37563e-32	1	1	0
FGL1	2267	broad.mit.edu	37	8	17739544	17739544	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17739544T>C	ENST00000398056.2	-	5	1023	c.208A>G	c.(208-210)Act>Gct	p.T70A	FGL1_ENST00000518650.1_Missense_Mutation_p.T70A|FGL1_ENST00000427924.1_Missense_Mutation_p.T70A|FGL1_ENST00000398054.1_Missense_Mutation_p.T70A|FGL1_ENST00000381841.2_Missense_Mutation_p.T70A|FGL1_ENST00000381840.2_Missense_Mutation_p.T70A|FGL1_ENST00000522444.1_Missense_Mutation_p.T70A			Q08830	FGL1_HUMAN	fibrinogen-like 1	70					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAATGACAGTATTCTCATCT	0.443000													30	49					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768129	57768129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57768129C>T	ENST00000371030.2	+	1	2055	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	685						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622000													5	15					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89410380	89410380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89410380G>A	ENST00000264350.3	+	16	2179	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	HERC5_ENST00000508159.1_Missense_Mutation_p.A314T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	676					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTCTGAATTCGCTTTGAGGCC	0.368000													48	72					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825213	117825213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117825213G>A	ENST00000350763.4	-	13	4427	c.4016C>T	c.(4015-4017)gCt>gTt	p.A1339V	TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1339V|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1339	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCTCTACAGCAAGGGGTCG	0.567000													11	12					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47635159	47635159	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47635159C>T	ENST00000397728.3	-	9	1024	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LSS_ENST00000356396.4_Missense_Mutation_p.V316M|LSS_ENST00000522411.1_Missense_Mutation_p.V305M|LSS_ENST00000457828.2_Missense_Mutation_p.V236M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	316					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCTTCTGCACGGCCCGCTGC	0.637000													4	45					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509384	171509384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171509384G>A	ENST00000367742.3	+	16	3021	c.2779G>A	c.(2779-2781)Gtt>Att	p.V927I	PRRC2C_ENST00000392078.3_Missense_Mutation_p.V927I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V925I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.V925I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	925							protein C-terminus binding										GAAAAGAAGTGTTTCCCATGG	0.453000													7	47					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943312	50943312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50943312G>A	ENST00000216080.5	-	10	1449	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	LMF2_ENST00000474879.2_Silent_p.Y452Y|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	452						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGAGGCCGTAGGAGTTGG	0.697000													6	6					0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23049092	23049092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23049092C>T	ENST00000437912.2	-	5	1799	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	NIPA1_ENST00000337435.4_Missense_Mutation_p.V243I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V168I|NIPA1_ENST00000538684.1_Missense_Mutation_p.V73I			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	243					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTGAACTGGACGATGATGCTG	0.607000													14	26					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20757860	20757860	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757860C>A	ENST00000258821.3	-	10	1305	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	417					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCATTCACCACTAGCAGGAGG	0.512000													7	14					0.00198382	0.00210581	1	1	0
GPR64	10149	broad.mit.edu	37	X	19013148	19013148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19013148G>T	ENST00000379878.3	-	27	2928	c.2687C>A	c.(2686-2688)aCt>aAt	p.T896N	GPR64_ENST00000379876.1_Missense_Mutation_p.T888N|GPR64_ENST00000360279.4_Missense_Mutation_p.T890N|GPR64_ENST00000340581.3_Missense_Mutation_p.T793N|GPR64_ENST00000357991.3_Missense_Mutation_p.T909N|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000357544.3_Missense_Mutation_p.T882N|GPR64_ENST00000356606.4_Missense_Mutation_p.T898N|GPR64_ENST00000354791.3_Missense_Mutation_p.T896N|GPR64_ENST00000379869.3_Missense_Mutation_p.T912N	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	912					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAACCATTAGTAGCAGTTTT	0.423000													40	83					5.43694e-19	7.10666e-19	1	1	0
MDGA1	266727	broad.mit.edu	37	6	37620022	37620022	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37620022C>A	ENST00000434837.2	-	7	2255	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	MDGA1_ENST00000297153.7_Silent_p.V359V|MDGA1_ENST00000505425.1_Silent_p.V359V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	359	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCACTGCATCCACGTGGCACG	0.562000													22	32					8.04996e-18	1.04647e-17	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131817900	131817900	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131817900G>T	ENST00000359827.3	-	31	6459	c.5497C>A	c.(5497-5499)Ctg>Atg	p.L1833M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1833M			Q9HCM2	PLXA4_HUMAN	plexin A4	1833						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTCAGCCAGGTATGCGTTC	0.498000													5	98					0.000602214	0.000649039	1	1	0
PCDHGA2	0	broad.mit.edu	37	5	140718798	140718798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140718798C>T	ENST00000394576.2	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACTGCGAACAGGATA	0.547000													28	42					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947770	165947770	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165947770G>A	ENST00000360093.3	-	28	5384	c.4893C>T	c.(4891-4893)atC>atT	p.I1631I	SCN3A_ENST00000540861.1_Silent_p.I114I|SCN3A_ENST00000409101.3_Silent_p.I1582I|SCN3A_ENST00000283254.7_Silent_p.I1631I|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAGACGTAGGATTCGGCCAA	0.488000													48	61					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643829	37643829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643829C>A	ENST00000356958.4	-	5	1230	c.972G>T	c.(970-972)aaG>aaT	p.K324N	ZNF585A_ENST00000292841.5_Missense_Mutation_p.K269N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K269N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K269N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATATAGGGCTTCACTCTTG	0.388000													13	168					3.45872e-05	3.88335e-05	1	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74537970	74537970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74537970G>A	ENST00000553458.1	-	6	756	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L207F|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	220						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTAGCAAGAAGCATAGTTGCT	0.473000													6	52					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351456	19351456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19351456G>A	ENST00000252575.5	+	12	3497	c.3454G>A	c.(3454-3456)Gtg>Atg	p.V1152M	NCAN_ENST00000538881.1_Missense_Mutation_p.V603M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1152	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGACAGGATCGTGGAGAGAGA	0.632000													20	35					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71502809	71502809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502809G>T	ENST00000304743.2	+	19	4248	c.3802G>T	c.(3802-3804)Gta>Tta	p.V1268L	PCNX_ENST00000439984.3_Missense_Mutation_p.V1157L|PCNX_ENST00000238570.5_Missense_Mutation_p.V1268L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1268						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGACCTGGTAGTATGCATTGT	0.313000													37	81					1.62957e-23	2.15828e-23	1	1	0
WT1	7490	broad.mit.edu	37	11	32421585	32421585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32421585C>T	ENST00000332351.3	-	6	1291	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	WT1_ENST00000448076.3_Missense_Mutation_p.S336N|WT1_ENST00000530998.1_Missense_Mutation_p.S107N|WT1_ENST00000379079.2_Missense_Mutation_p.S124N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	268					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACCCTGTGCTGTGGCTGCA	0.498000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				12	23					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207940505	207940505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207940505G>T	ENST00000358170.2	+	6	977	c.821G>T	c.(820-822)aGt>aTt	p.S274I	CD46_ENST00000367042.1_Missense_Mutation_p.S274I|CD46_ENST00000367047.1_Missense_Mutation_p.S211I|CD46_ENST00000354848.1_Missense_Mutation_p.S274I|CD46_ENST00000360212.2_Missense_Mutation_p.S274I|CD46_ENST00000367041.1_Missense_Mutation_p.S274I|CD46_ENST00000441839.2_Missense_Mutation_p.S274I|CD46_ENST00000357714.1_Missense_Mutation_p.S274I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.S274I|CD46_ENST00000361067.1_Missense_Mutation_p.S274I|CD46_ENST00000322918.5_Missense_Mutation_p.S274I|CD46_ENST00000480003.1_Missense_Mutation_p.S274I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	274	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACAGTAACAGTACTTGGGAT	0.363000													10	110					0.000442599	0.00048047	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160993949	160993949	+	Silent	SNP	G	G	A	rs139038668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160993949G>A	ENST00000283249.2	-	10	1893	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	ITGB6_ENST00000409872.1_Silent_p.C552C|ITGB6_ENST00000428609.2_Silent_p.C510C|ITGB6_ENST00000409967.2_Silent_p.C552C			P18564	ITB6_HUMAN	integrin, beta 6	552	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCTACCTCCGCAGAGCAGCC	0.517000													26	35					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78272171	78272171	+	Missense_Mutation	SNP	C	C	T	rs139456294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78272171C>T	ENST00000582970.1	+	11	2206	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	RNF213_ENST00000508628.2_Missense_Mutation_p.T737M|RNF213_ENST00000456466.1_Missense_Mutation_p.T688M|RNF213_ENST00000319921.4_Missense_Mutation_p.T688M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	688										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACACAAGGACGTACACCTGG	0.622000													14	18					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320571	320571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:320571C>T	ENST00000397770.3	-	15	1174	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	RGS11_ENST00000359740.5_Missense_Mutation_p.R375H|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.R365H			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	386	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAGGACATAGCGGTGGGGCTG	0.667000													5	5					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108796	65108796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65108796G>A	ENST00000268043.4	-	12	1937	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PIF1_ENST00000559239.1_Missense_Mutation_p.R615W|PIF1_ENST00000333425.6_Missense_Mutation_p.R615W			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	615	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTGCCCCGCCGCAGGGTGGCA	0.672000													26	40					0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587679	111587679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587679G>A	ENST00000368847.4	+	4	1267	c.914G>A	c.(913-915)aGc>aAc	p.S305N		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	305					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACATTGGCAGCCTGACTTCA	0.468000													17	163					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2434897	2434897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2434897C>A	ENST00000325327.3	-	6	932	c.870G>T	c.(868-870)aaG>aaT	p.K290N	LMNB2_ENST00000582871.1_Missense_Mutation_p.K270N			Q03252	LMNB2_HUMAN	lamin B2	270	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCTCAGCTTGGCGCTGT	0.746000													3	18					0.014758	0.0152625	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71626719	71626719	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71626719C>A	ENST00000409544.1	+	13	3161	c.2531C>A	c.(2530-2532)gCc>gAc	p.A844D	ZNF638_ENST00000355812.3_Missense_Mutation_p.A844D|ZNF638_ENST00000264447.4_Missense_Mutation_p.A844D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	844					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTAGAAGCCAAAAAGACT	0.353000													6	126					0.00621372	0.00652201	1	1	0
PSMB5	5693	broad.mit.edu	37	14	23495491	23495491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23495491C>T	ENST00000361611.6	-	3	862	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R97Q|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GGAATAGCCCCGATCCATGAC	0.552000													4	114					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100081697	100081697	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100081697A>T	ENST00000415585.2	+	7	799	c.777A>T	c.(775-777)caA>caT	p.Q259H	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.Q259H			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	259	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACCAGGGCAAATGCCAGCTG	0.483000													5	32					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72999467C>T	ENST00000322038.5	+	2	2554	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A702V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAG	0.547000													8	29					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2581459	2581459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2581459C>T	ENST00000340611.4	-	8	1283	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	343					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TCTGCCGTCCCGTCCAGCAAG	0.672000													4	6					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24134670	24134670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24134670G>A	ENST00000378491.4	+	3	416	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	NRSN1_ENST00000378478.1_Missense_Mutation_p.A39T|NRSN1_ENST00000378475.1_Missense_Mutation_p.A39T	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTGTACAGCCTCAATTTG	0.507000													7	52					0	0	1	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982787	42982787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42982787G>A	ENST00000418176.1	+	2	2140	c.106G>A	c.(106-108)Gag>Aag	p.E36K	KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000383748.4_Missense_Mutation_p.E36K|KRBOX1_ENST00000426937.1_Missense_Mutation_p.E36K			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	36	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			lung(2)	2						GGTGCCTGCCGAGAGGGCCTT	0.537000													3	4					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158735283	158735283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158735283C>T	ENST00000367097.3	+	1	1592	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TULP4_ENST00000367094.2_Missense_Mutation_p.R79W	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	79					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTTCAACCTCCGGGGCCACAA	0.522000													22	28					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32119490	32119490	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32119490C>T	ENST00000373672.3	-	69	5028	c.4512G>A	c.(4510-4512)cgG>cgA	p.R1504R	RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Silent_p.R1504R|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585413.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1504	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAGCCCTGCCGTCCTTCTC	0.602000													26	51					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70714489	70714489	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70714489C>T	ENST00000530196.1	-	0	29					NR_003951.1																						GCTGACCCTACGGATCTGTGT	0.488000													4	52					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000402521.3_Silent_p.T369T|EFTUD2_ENST00000591382.1_Silent_p.T404T|EFTUD2_ENST00000592576.1_Silent_p.T394T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	47					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85403938	85403938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85403938G>A	ENST00000373131.1	+	1	477	c.314G>A	c.(313-315)gGc>gAc	p.G105D	DACH2_ENST00000373125.4_Missense_Mutation_p.G105D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	105	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGTGGGAGGCTTGCACACT	0.572000													21	53					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129827806	129827806	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129827806C>A	ENST00000358825.5	-	3	301		c.e3-1		PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAAGTGCACCTGGCATAAAC	0.498000													27	138					2.79863e-10	3.44159e-10	1	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952838	119952838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119952838T>C	ENST00000307142.4	+	4	3104	c.2908T>C	c.(2908-2910)Tat>Cat	p.Y970H	SYNPO2_ENST00000429713.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	970						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACCAACCGTATCAGCTCAA	0.488000													3	35					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53585794	53585794	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53585794T>G	ENST00000267082.5	-	15	2396	c.2165A>C	c.(2164-2166)gAc>gCc	p.D722A	ITGB7_ENST00000338737.4_Missense_Mutation_p.D574A|ITGB7_ENST00000422257.3_Missense_Mutation_p.D722A|ITGB7_ENST00000550743.2_Missense_Mutation_p.D574A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	722					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCGTGTGGTCTGCTCCCTC	0.597000													9	13					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969187	106969187	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969187A>G	ENST00000369066.3	+	2	3367	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATATGGAAAAGGCTAATC	0.363000													5	62					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494299	157494299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157494299G>T	ENST00000361835.3	-	10	2166	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	FCRL5_ENST00000356953.4_Missense_Mutation_p.A670D|FCRL5_ENST00000368190.3_Missense_Mutation_p.A670D|FCRL5_ENST00000368191.3_Missense_Mutation_p.A585D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	670	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCCACCACAGCCTGGGCCCT	0.527000													5	41					0.0215528	0.0221649	1	1	0
SPATA2L	124044	broad.mit.edu	37	16	89764095	89764095	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764095A>G	ENST00000289805.5	-	3	990	c.922T>C	c.(922-924)Tcc>Ccc	p.S308P	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	308										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAGAGGAAGGAGAAGGCGGAA	0.692000													3	27					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967893	161967893	+	Missense_Mutation	SNP	G	G	A	rs140535952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161967893G>A	ENST00000294794.3	-	6	1619	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S400L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	399										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGAGACACCGAGGTTGTTTG	0.627000													7	108					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255455	127255455	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127255455C>A	ENST00000463946.1	-	0	269				PAX4_ENST00000338516.3_Splice_Site_p.K48_splice|PAX4_ENST00000341640.2_Splice_Site_p.K40_splice|PAX4_ENST00000378740.2_Splice_Site_p.K40_splice			O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCCCATTACCTTAAGGATCC	0.592000													26	66					1.26454e-06	1.46825e-06	1	1	0
IL23R	149233	broad.mit.edu	37	1	67633832	67633832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67633832C>T	ENST00000347310.5	+	2	200	c.29C>T	c.(28-30)gCa>gTa	p.A10V	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A10V	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	10					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAATGGGATGCAGTAATAGCC	0.343000													49	69					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709570	154709570	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154709570G>T	ENST00000274063.4	-	1	702	c.418C>A	c.(418-420)Ctt>Att	p.L140I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	140	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCGCACTCAAGCATGTCGGGC	0.642000													5	70					0.0381472	0.0390147	1	1	0
GCNT4	51301	broad.mit.edu	37	5	74324682	74324682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74324682C>T	ENST00000322348.4	-	1	2042	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	394					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTCTGCAGCTCCATAAATACA	0.403000													39	44					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628524	205628524	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628524C>T	ENST00000367145.3	-	5	1795	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	500					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGGGACAGCAGGAAGGCAC	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625144	18625144	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:18625144A>C	ENST00000406451.3	+	3	413	c.264_splice	c.e3+1	p.K88_splice	HDAC9_ENST00000456174.2_Splice_Site_p.K57_splice|HDAC9_ENST00000406072.1_Splice_Site_p.K116_splice|HDAC9_ENST00000441542.2_Splice_Site_p.K88_splice|HDAC9_ENST00000428307.2_Splice_Site_p.K88_splice|HDAC9_ENST00000432645.2_Splice_Site_p.K88_splice|HDAC9_ENST00000401921.1_Splice_Site_p.K88_splice|HDAC9_ENST00000524023.1_Splice_Site_p.K57_splice|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Splice_Site_p.K130_splice|HDAC9_ENST00000405010.3_Splice_Site_p.K88_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	88					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCATATCAAGGTAGCAAAT	0.502000													4	27					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926274	88926274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88926274T>C	ENST00000347404.5	-	3	708	c.136A>G	c.(136-138)Aat>Gat	p.N46D	KITLG_ENST00000228280.5_Missense_Mutation_p.N46D|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	46					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTGGAAGATTTGCCACCTAC	0.328000									Testicular Cancer, Familial Clustering of				6	88					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411961	51411961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51411961G>T	ENST00000324041.1	-	3	348	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	KLK4_ENST00000431178.2_Missense_Mutation_p.L68I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	117	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		ATGAGCATGAGGTCGTTAGCG	0.597000													8	61					5.18039e-06	5.91835e-06	1	1	0
C19orf26	255057	broad.mit.edu	37	19	1231256	1231256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231256T>C	ENST00000590083.1	-	9	1290	c.998A>G	c.(997-999)cAc>cGc	p.H333R	C19orf26_ENST00000215376.6_Missense_Mutation_p.H327R|C19orf26_ENST00000382477.2_Missense_Mutation_p.H353R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	353						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGGAAGTGGTGCCGCTT	0.682000										HNSCC(14;0.022)			6	55					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44445056	44445056	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44445056T>G	ENST00000291547.5	+	9	1136	c.926_splice	c.e9+1	p.W309_splice	PKNOX1_ENST00000432907.2_Splice_Site_p.W192_splice|PKNOX1_ENST00000607150.1_3'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	309							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGTCAACAACTGGTAAGGTGC	0.438000													27	34					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109945392	109945392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109945392C>T	ENST00000342494.3	+	15	2069	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L492F|UBE3B_ENST00000434735.2_Missense_Mutation_p.L492F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATGACCTGCTTCCCAAACT	0.493000													31	70					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797252	41797252	+	Missense_Mutation	SNP	C	C	T	rs145997165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797252C>T	ENST00000263800.6	-	16	2032	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	LTK_ENST00000561619.1_Missense_Mutation_p.A344T|LTK_ENST00000453182.2_Missense_Mutation_p.A516T|LTK_ENST00000355166.5_Missense_Mutation_p.A585T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	646	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527000										TSP Lung(18;0.14)			6	20					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52404840	52404840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52404840C>T	ENST00000293662.4	+	4	449	c.369C>T	c.(367-369)caC>caT	p.H123H	GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	123	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCACCACCGGGAGGAGC	0.617000													6	142					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23400310	23400310	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23400310T>C	ENST00000307149.5	-	17	2429	c.2244A>G	c.(2242-2244)agA>agG	p.R748R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	748					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCTGACCTGTCTATAGTCCT	0.617000													18	49					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945300	30945300	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30945300A>T	ENST00000298139.5	+	12	1689	c.1440A>T	c.(1438-1440)gaA>gaT	p.E480D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	480					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTCTTTAGAAAACCTCAATA	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				37	74					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50617667	50617667	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50617667C>T	ENST00000159647.5	+	4	1910	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	PANX2_ENST00000395842.2_Silent_p.F665F	NM_001160300.1	NP_001153772.1	Q96RD6	PANX2_HUMAN	pannexin 2	0					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGCCACCTTCGACGAGCCGA	0.692000													3	21					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21957415	21957415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21957415A>G	ENST00000319481.3	-	2	289	c.83T>C	c.(82-84)aTg>aCg	p.M28T	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.M28T|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	28					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTCGCCATGGTCTCTAA	0.373000													16	39					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167919797	167919797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167919797G>A	ENST00000231572.3	+	3	368	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	105					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GTGACACCAAGTCAGCAGGCC	0.398000													8	106					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73505372	73505372	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73505372T>G	ENST00000326291.6	+	14	2138	c.1800T>G	c.(1798-1800)caT>caG	p.H600Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	600				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCTGGAACATCGAAAGGACC	0.313000													5	36					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42728038	42728038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42728038C>A	ENST00000287777.4	+	1	1028	c.928C>A	c.(928-930)Ctg>Atg	p.L310M		NM_152393.2	NP_689606.2			kelch-like family member 40																		CAATGACACCCTGCGCTTCGG	0.577000													46	82					5.2432e-18	6.82318e-18	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43654256	43654256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43654256G>A	ENST00000360835.3	-	6	822	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SCUBE1_ENST00000290460.7_Silent_p.Y232Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	232					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGTGGAGGGCGTACTTCTGGT	0.617000													28	24					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628682	29628682	+	Missense_Mutation	SNP	G	G	A	rs145048415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:29628682G>A	ENST00000434693.2	+	4	1082	c.382G>A	c.(382-384)Gca>Aca	p.A128T	RBMS3_ENST00000273139.9_Missense_Mutation_p.A129T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A128T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A129T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A129T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A129T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A129T|RBMS3_ENST00000445033.1_Missense_Mutation_p.A129T	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	129	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCGTGCAGGCACAGATGGC	0.418000													13	25					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580863	7580863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7580863C>A	ENST00000379802.3	+	23	4781	c.4440C>A	c.(4438-4440)aaC>aaA	p.N1480K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1480	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGATAAAAACAAGGAGATAG	0.428000													26	59					1.5548e-18	2.02858e-18	1	1	0
SPTB	6710	broad.mit.edu	37	14	65240029	65240029	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65240029T>G	ENST00000389722.3	-	24	5140	c.5087A>C	c.(5086-5088)aAg>aCg	p.K1696T	SPTB_ENST00000556626.1_Missense_Mutation_p.K1696T|SPTB_ENST00000542895.1_Missense_Mutation_p.K1696T|SPTB_ENST00000389720.3_Missense_Mutation_p.K1696T|SPTB_ENST00000389721.5_Missense_Mutation_p.K1696T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCTCCCGCTTGAGCTGGAA	0.572000													4	58					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9714422	9714422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714422T>C	ENST00000296003.4	+	7	853	c.731T>C	c.(730-732)cTc>cCc	p.L244P	MTMR14_ENST00000351233.5_Missense_Mutation_p.L244P|MTMR14_ENST00000353332.5_Missense_Mutation_p.L244P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	244						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTTCACTCTCCTCTCCATC	0.532000													36	51					0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6838441	6838441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6838441C>A	ENST00000543155.1	+	5	838	c.356C>A	c.(355-357)gCt>gAt	p.A119D	COPS7A_ENST00000534947.1_Missense_Mutation_p.A119D|COPS7A_ENST00000538410.1_Missense_Mutation_p.A119D|COPS7A_ENST00000534877.1_Missense_Mutation_p.A119D|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Missense_Mutation_p.A119D|COPS7A_ENST00000229251.3_Missense_Mutation_p.A119D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	119	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCTGGAGGCTCTTGCCCTG	0.577000													9	81					1.12685e-05	1.27857e-05	1	1	0
ZNF182	7569	broad.mit.edu	37	X	47835672	47835672	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47835672T>G	ENST00000396965.1	-	7	2164	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T	ZNF182_ENST00000305127.6_Missense_Mutation_p.K605T|ZNF182_ENST00000376943.3_Missense_Mutation_p.K586T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTAAAGGCTTTCCCACATTC	0.438000													14	148					0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125778165	125778165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125778165C>A	ENST00000263576.6	+	5	541	c.386C>A	c.(385-387)cCt>cAt	p.P129H	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	129					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATGGCTCTCCCTATGATGCTG	0.368000													3	26					1	1	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67318663	67318663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67318663G>A	ENST00000360461.5	+	12	4275	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	PLEKHG4_ENST00000427155.2_Silent_p.E580E|PLEKHG4_ENST00000379344.3_Silent_p.E580E|PLEKHG4_ENST00000450733.1_Silent_p.E499E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	580					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGAGCTGGAGCAGGAACGCC	0.632000													12	14					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734511	37734511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37734511C>T	ENST00000589413.1	+	8	1956	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	ZNF383_ENST00000590503.1_Missense_Mutation_p.A458V|ZNF383_ENST00000352998.3_Missense_Mutation_p.A458V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCTTTTAGTAGT	0.368000													36	47					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050495	164050495	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164050495C>A	ENST00000274054.2	-	8	1232	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	347					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAGTAAAATCTTCACCTTTG	0.343000													18	37					1.99824e-07	2.35189e-07	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123513313	123513313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123513313C>A	ENST00000392770.2	-	3	1088	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SCN3B_ENST00000299333.3_Missense_Mutation_p.G96C|SCN3B_ENST00000530277.1_Missense_Mutation_p.G96C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	96	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCCTTGCTGCCATTCCACTGC	0.567000													5	68					0.217242	0.218821	1	1	0
PNMA5	114824	broad.mit.edu	37	X	152159756	152159756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159756G>A	ENST00000439251.1	-	2	825	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PNMA5_ENST00000452693.1_Silent_p.L129L|PNMA5_ENST00000361887.5_Silent_p.L129L|PNMA5_ENST00000535214.1_Silent_p.L129L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	129					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tctcggcagggaggctgcaac	0.502000													17	247					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995243	32995243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995243G>A	ENST00000330953.5	+	2	497	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	110					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTAGGTCTGTGCAAGATGATT	0.488000													95	133					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145595181	145595181	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145595181A>C	ENST00000334163.3	-	12	1421	c.1261T>G	c.(1261-1263)Ttc>Gtc	p.F421V	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	421					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TATAAATAGAAGGTCCTGGAT	0.423000													14	146					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659571	24659571	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24659571G>A	ENST00000414583.2	+	0	3096					NR_003714.1																						CCCGTCCTGCGCAGGCCAACA	0.597000													5	13					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980680	3980680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3980680G>T	ENST00000309311.6	-	9	1266	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	393						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATAAGAGGGCCTTTGGG	0.527000													9	20					6.40141e-05	7.11719e-05	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128016959	128016959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128016959C>A	ENST00000493187.2	-	14	2401	c.1938G>T	c.(1936-1938)caG>caT	p.Q646H	ERCC3_ENST00000285398.2_Missense_Mutation_p.Q710H			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	710	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTAAGAGCTGCTGTTGCTCTT	0.552000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	41					2.4375e-19	3.18921e-19	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44933440	44933440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933440C>T	ENST00000291187.4	-	6	1820	c.1498G>A	c.(1498-1500)Gct>Act	p.A500T	ZNF229_ENST00000588931.1_Missense_Mutation_p.A506T|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGGTGAGCTTGAAGGTAC	0.512000													39	68					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71102876	71102876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71102876G>A	ENST00000318789.4	-	8	856	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q113*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q111*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	111	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGCATTTGCTGGGGAGTG	0.507000			T	PAX5	ALL								19	36					0	0	1	0	0
TBXA2R	0	broad.mit.edu	37	19	3600109	3600109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3600109G>A	ENST00000375190.4	-	2	917	c.524C>T	c.(523-525)aCc>aTc	p.T175I	TBXA2R_ENST00000411851.3_Missense_Mutation_p.T175I|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	175					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTATTGCACGGTGTAGCGACC	0.751000													6	13					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72046120	72046120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72046120G>A	ENST00000572887.1	+	2	370	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	DHODH_ENST00000219240.4_Missense_Mutation_p.G65R			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	65					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACCTCCCTGGGGCTCCTTCC	0.562000													29	38					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2924665	2924665	+	Silent	SNP	C	C	T	rs138378007	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2924665C>T	ENST00000381130.2	+	1	12	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	4						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGACAAGAAACGCCAGACCCA	0.468000													28	54					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661869	6661869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6661869G>A	ENST00000299441.3	-	2	1387	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGACCCGCCGCTGCTCA	0.607000													5	52					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057154	40057154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40057154C>A	ENST00000336649.4	+	19	2758	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	CACNA1I_ENST00000402142.3_Missense_Mutation_p.L914M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L879M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L914M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAATGGGCACCTGGACCCCAG	0.647000													9	19					0.000442599	0.00048047	1	1	0
CA6	765	broad.mit.edu	37	1	9011536	9011536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9011536C>T	ENST00000319474.2	+	3	338	c.314C>T	c.(313-315)gCg>gTg	p.A105V	CA6_ENST00000377436.3_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	103					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAGGGGCGAAGCACAAA	0.527000													13	14					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058358	42058358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058358A>C	ENST00000219905.7	+	24	8259	c.8078A>C	c.(8077-8079)aAt>aCt	p.N2693T	MGA_ENST00000389936.4_Missense_Mutation_p.N2654T|MGA_ENST00000566586.1_Missense_Mutation_p.N2484T|MGA_ENST00000570161.1_Missense_Mutation_p.N2693T|MGA_ENST00000545763.1_Missense_Mutation_p.N2484T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2654						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAAGATAATTCCTTAGAG	0.458000													6	47					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125741743	125741743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125741743G>A	ENST00000383598.2	-	5	838	c.553C>T	c.(553-555)Cga>Tga	p.R185*	SLC41A3_ENST00000346785.5_Nonsense_Mutation_p.R175*|SLC41A3_ENST00000360370.4_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000315891.6_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000508835.1_Nonsense_Mutation_p.R94*	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	211						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCTTTCGAGCACCAATC	0.547000													53	68					0	0	1	0	0
CITED1	4435	broad.mit.edu	37	X	71522666	71522666	+	Silent	SNP	C	C	T	rs141552530		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71522666C>T	ENST00000246139.5	-	2	629	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CITED1_ENST00000373619.3_Silent_p.A18A|CITED1_ENST00000431381.1_Silent_p.A44A|CITED1_ENST00000445983.1_Silent_p.A18A	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	18					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					ttacctccttcgcaggTGAGG	0.517000													5	7					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26087105	26087105	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26087105A>G	ENST00000313735.6	-	25	3343	c.3110T>C	c.(3109-3111)gTg>gCg	p.V1037A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1037					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CGCATGCAGCACCCCCTTCTG	0.602000											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	59					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485835	52485835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52485835A>G	ENST00000232975.3	-	4	296	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	81	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GCACCGAACCATCATGACCAG	0.577000													4	52					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73750787	73750787	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73750787A>G	ENST00000556772.1	-	4	2805		c.e4+1		NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Splice_Site|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000355058.3_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCTACATTACCTGCATTTT	0.448000													3	54					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523713	70523713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70523713C>A	ENST00000538820.1	+	7	877	c.537C>A	c.(535-537)ttC>ttA	p.F179L	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.F197L			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	197	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTGGGGCATTCTTGGCACAAC	0.478000													7	17					0.00198382	0.00210581	1	1	0
ANAPC10	10393	broad.mit.edu	37	4	145916607	145916607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145916607T>C	ENST00000507656.1	-	5	569	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	ANAPC10_ENST00000309439.5_Missense_Mutation_p.Y159C|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.Y159C	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	159	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TACTGGTGTGTATATTTTAAT	0.358000													41	84					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445556	78445556	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78445556G>A	ENST00000306773.4	-	4	1210	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCACCAGCACGCCCTGGGGCT	0.657000													5	14					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183810	76183810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76183810C>A	ENST00000529032.1	+	7	1034	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	C11orf30_ENST00000525919.1_Missense_Mutation_p.P346H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P359H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P360H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P345H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P346H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P360H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P345H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	345	Interaction with BRCA2.|Ser-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACACCATCACCTATTCCTAAT	0.453000													5	60					3.59834e-05	4.01776e-05	1	1	0
FBL	2091	broad.mit.edu	37	19	40329705	40329705	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40329705C>T	ENST00000221801.3	-	5	632	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	173	S-adenosyl-L-methionine binding (By similarity).				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGGGAGACCGTGGTGCCCG	0.587000													27	48					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52376351	52376351	+	Missense_Mutation	SNP	G	G	T	rs35513357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376351G>T	ENST00000296585.5	+	25	3082	c.2939G>T	c.(2938-2940)gGa>gTa	p.G980V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	980					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAACAACAGGAAGTGTTCCA	0.438000													21	40					2.4624e-09	2.98951e-09	1	1	0
BRMS1L	84312	broad.mit.edu	37	14	36295758	36295758	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36295758C>A	ENST00000216807.7	+	1	235	c.36C>A	c.(34-36)acC>acA	p.T12T	BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	12					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAAGGAGACCAACCATCACG	0.607000													3	4					0.115264	0.117355	1	1	0
C19orf57	79173	broad.mit.edu	37	19	14000930	14000930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14000930G>A	ENST00000454313.1	-	6	797	c.739C>T	c.(739-741)Cca>Tca	p.P247S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P247S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P247S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	247					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCTGTCTGGCTTCTCCCCT	0.632000													32	51					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69177295	69177295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69177295C>T	ENST00000481498.1	-	3	185	c.167G>A	c.(166-168)gGa>gAa	p.G56E	GKN2_ENST00000328895.4_Missense_Mutation_p.G56E			Q86XP6	GKN2_HUMAN	gastrokine 2	56	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGCATGATCCTGCATGGAT	0.368000													36	45					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175763812	175763812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175763812G>A	ENST00000443967.1	+	10	2611	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	SIMC1_ENST00000341199.6_Missense_Mutation_p.R320H|SIMC1_ENST00000430704.2_Missense_Mutation_p.R320H|SIMC1_ENST00000332772.4_Missense_Mutation_p.R196H					SUMO-interacting motifs containing 1																		ACACCCACCCGCCTGCCTCTG	0.483000													34	40					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23908572	23908572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23908572C>A	ENST00000546136.1	-	3	531	c.529_splice	c.e3+1	p.G177_splice	SOX5_ENST00000541847.1_Splice_Site_p.G180_splice|SOX5_ENST00000541536.1_Splice_Site_p.G177_splice|SOX5_ENST00000545921.1_Splice_Site_p.G180_splice|SOX5_ENST00000451604.2_Splice_Site_p.G190_splice|SOX5_ENST00000537393.1_Splice_Site_p.G155_splice|SOX5_ENST00000309359.1_Splice_Site_p.G177_splice|SOX5_ENST00000381381.2_Splice_Site_p.G177_splice			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	190					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCATATTACCTTTTATTTCG	0.363000													9	55					0.00448238	0.00472561	1	1	0
ZNF304	57343	broad.mit.edu	37	19	57869057	57869057	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57869057G>T	ENST00000391705.3	+	4	2104	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	ZNF304_ENST00000282286.5_Missense_Mutation_p.R607M|ZNF304_ENST00000443917.2_Missense_Mutation_p.R654M|ZNF304_ENST00000598744.1_Missense_Mutation_p.R565M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTGCACCAGAGGGTTCACACT	0.478000													5	53					0.184627	0.186383	1	1	0
RP11-467N20.5	0	broad.mit.edu	37	15	23412173	23412173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23412173G>T	ENST00000558241.1	-	2	374	c.284C>A	c.(283-285)tCt>tAt	p.S95Y																	endometrium(1)	1						GCAACCACCAGAAGTGGTTGT	0.532000													21	30					1.10923e-09	1.35296e-09	1	1	0
CYP1B1	1545	broad.mit.edu	37	2	38301921	38301921	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38301921A>G	ENST00000260630.3	-	2	1012	c.611T>C	c.(610-612)gTc>gCc	p.V204A	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.V204A	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	204					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGCACTCATGACGTTGGCCAC	0.711000													2	4					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153055715	153055715	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153055715C>T	ENST00000370092.3	-	4	353	c.168G>A	c.(166-168)acG>acA	p.T56T	IDH3G_ENST00000370093.1_Silent_p.T56T|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.T56T	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	56					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCATGGTCACCGTGTGCCGCC	0.657000													7	22					0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	22000097	22000097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22000097C>T	ENST00000286143.6	-	4	362	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PDZD9_ENST00000537222.2_Missense_Mutation_p.S16N|PDZD9_ENST00000424898.2_Missense_Mutation_p.S76N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	76										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ATGGCCAACACTAATCAGAAC	0.353000													6	24					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167168078A>G	ENST00000303354.6	-	2	529	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473000													28	60					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517755	20517755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20517755C>T	ENST00000375099.3	+	2	785	c.701C>T	c.(700-702)aCc>aTc	p.T234I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	234	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAAAACAAAACCTCCTACCGA	0.488000													22	36					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947042	95947042	+	Missense_Mutation	SNP	G	G	A	rs142421342	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95947042G>A	ENST00000317620.9	+	12	1613	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PROM2_ENST00000317668.4_Missense_Mutation_p.A494T|PROM2_ENST00000403131.2_Missense_Mutation_p.A494T|PROM2_ENST00000542147.1_Missense_Mutation_p.A494T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	494						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGTGTTCGCCACCTTCCT	0.642000													34	57					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249017	22249017	+	Missense_Mutation	SNP	G	G	A	rs146725859		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22249017G>A	ENST00000324559.8	+	7	850	c.533G>A	c.(532-534)aGt>aAt	p.S178N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	178						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.S178I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463000													51	60					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206852	71206852	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71206852A>T	ENST00000554752.2	-	7	1596	c.1597T>A	c.(1597-1599)Tcc>Acc	p.S533T	MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGTAGGGGAGGCCTGCACC	0.468000													6	54					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657910	40657910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40657910G>A	ENST00000267889.3	+	7	1016	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	310					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCATGTGTCGCATGGAACAG	0.562000													6	118					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102106493	102106493	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102106493C>A	ENST00000292616.5	+	2	462	c.310C>A	c.(310-312)Ctg>Atg	p.L104M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	104					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACCCCTTCCTGACGGTAAG	0.617000													4	45					0.150653	0.152692	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104955039	104955039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104955039G>A	ENST00000507740.1	+	11	2198	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	RIMS2_ENST00000406091.3_Silent_p.E862E|RIMS2_ENST00000436393.2_Silent_p.E640E|RIMS2_ENST00000262231.10_Silent_p.E701E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	924					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGATGAGCCACATTGGT	0.378000										HNSCC(12;0.0054)			16	29					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49104456	49104456	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49104456G>A	ENST00000263266.3	-	5	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CATCCCCACCGAACCGCCTTC	0.706000													7	10					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307480	52307480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52307480C>T	ENST00000550683.1	+	3	594	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ACVRL1_ENST00000388922.4_Missense_Mutation_p.R151C|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	151					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGAAGCAGCGTGGCCTGCA	0.667000													11	12					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8386014	8386014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8386014G>A	ENST00000471889.1	+	4	1012	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SLC45A1_ENST00000289877.8_Silent_p.S209S|SLC45A1_ENST00000377479.2_Silent_p.S243S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	209					carbohydrate transport	integral to membrane	symporter activity	p.S209S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657000													12	82					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101769479	101769479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101769479G>T	ENST00000261637.4	+	56	7515	c.7341G>T	c.(7339-7341)aaG>aaT	p.K2447N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2447					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTTATCAAGGAATGTAATA	0.313000													15	27					4.93089e-13	6.23885e-13	1	1	0
THAP6	152815	broad.mit.edu	37	4	76452331	76452331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76452331T>C	ENST00000311638.3	+	5	644	c.576T>C	c.(574-576)gaT>gaC	p.D192D	THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Silent_p.D150D|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Silent_p.D192D|THAP6_ENST00000507556.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	192						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAAAGGATGAATGTCTGA	0.393000													11	93					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579475	49579475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49579475G>A	ENST00000301071.7	-	4	1018	c.674C>T	c.(673-675)aCt>aTt	p.T225I	TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Missense_Mutation_p.T190I|TUBA1A_ENST00000295766.5_Missense_Mutation_p.T225I	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	225					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						ATTCAGGTTAGTATAGGTTGG	0.463000													3	81					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9764264	9764264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9764264C>A	ENST00000448622.1	-	6	804	c.642G>T	c.(640-642)aaG>aaT	p.K214N	ZNF562_ENST00000537617.1_Missense_Mutation_p.K98N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K177N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K213N|ZNF562_ENST00000453792.2_Missense_Mutation_p.K145N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K142N|ZNF562_ENST00000453372.2_Missense_Mutation_p.K214N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGCAAAATACTTAAAGCCTT	0.408000													16	47					3.45872e-05	3.88335e-05	1	1	0
CELA2A	63036	broad.mit.edu	37	1	15789268	15789268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789268C>A	ENST00000359621.4	+	4	293	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCGGCACAACCTCTACGTTGC	0.592000													8	74					0.000157383	0.00017284	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999761	112999761	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112999761A>G	ENST00000271277.6	+	6	1872	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	549						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCATTCACCTACTCCAG	0.552000													45	51					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404176	124404176	+	Silent	SNP	G	G	A	rs149674781	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404176G>A	ENST00000303921.2	-	1	1505	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	285						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCACACGATGCACATCA	0.572000													4	55					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36124698	36124698	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124698C>T	ENST00000262633.4	+	7	899	c.794C>T	c.(793-795)gCt>gTt	p.A265V	RBM42_ENST00000588161.1_Missense_Mutation_p.A235V|RBM42_ENST00000360475.4_Missense_Mutation_p.A236V|RBM42_ENST00000592202.1_Missense_Mutation_p.A211V|RBM42_ENST00000589871.1_Missense_Mutation_p.A243V|RBM42_ENST00000589559.1_Missense_Mutation_p.A236V|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	265	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTAGCGCGGCTGTGGCCGTG	0.721000													3	2					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51376748	51376748	+	Missense_Mutation	SNP	T	T	G	rs113993987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51376748T>G	ENST00000216392.7	-	17	2374	c.2042A>C	c.(2041-2043)aAg>aCg	p.K681T	PYGL_ENST00000532462.1_Missense_Mutation_p.K681T|PYGL_ENST00000544180.2_Missense_Mutation_p.K647T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	681					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGCATGAACTTCATATTGCC	0.488000													12	142					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69069574G>T	ENST00000288368.4	+	35	4526	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATGGAAGGATATTATTA	0.343000													4	43					0.150653	0.152692	1	1	0
EPHA10	284656	broad.mit.edu	37	1	38184381	38184381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38184381G>A	ENST00000373048.4	-	16	2863	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A450V|EPHA10_ENST00000427468.2_Missense_Mutation_p.A955V|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	955	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGCAGCCGCGAAGCTGTC	0.672000													17	27					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26792679	26792679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26792679C>A	ENST00000381588.4	-	4	1010	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF6_ENST00000381570.3_Missense_Mutation_p.Q86H|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Q86H	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	86					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCAAGTCAGGCTGAGATGCTA	0.408000													37	79					1.32136e-16	1.70662e-16	1	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064481	78064481	+	Missense_Mutation	SNP	G	G	A	rs147323906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78064481G>A	ENST00000299642.4	+	3	449	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	CLEC3A_ENST00000575655.1_Missense_Mutation_p.A113T|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	113	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CGAAATCAACGCCCTCCAAGA	0.493000													19	33					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895172	26895172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26895172G>A	ENST00000407690.1	-	9	1510	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFIP11_ENST00000407148.1_Silent_p.D409D|TFIP11_ENST00000405938.1_Silent_p.D409D|TFIP11_ENST00000407431.1_Silent_p.D409D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	409					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATAGTACTTGTCCTGCAGGG	0.587000													8	59					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155231119	155231119	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:155231119G>A	ENST00000424344.3	+	0	254				IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Missense_Mutation_p.G21S|IL9R_ENST00000369423.2_Missense_Mutation_p.G31S			Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACTTGCCACGGTGTTTCATG	0.547000													64	162					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76211522	76211522	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76211522C>T	ENST00000370841.4	+	8	1068	c.631C>T	c.(631-633)Cct>Tct	p.P211S	ACADM_ENST00000370834.5_Missense_Mutation_p.P244S|ACADM_ENST00000420607.2_Missense_Mutation_p.P215S|ACADM_ENST00000541113.1_Missense_Mutation_p.P175S|ACADM_ENST00000543667.1_Missense_Mutation_p.P22S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	211					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TGATCCAGATCCTAAAGCTCC	0.378000													31	81					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9900615	9900615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:9900615C>A	ENST00000316020.6	-	6	654	c.655G>T	c.(655-657)Gag>Tag	p.E219*	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTTGGAACTCCTCAAGGTGA	0.433000													4	83					0.00024832	0.0002712	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	96994341	96994341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96994341G>T	ENST00000216277.8	+	6	713	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E165*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	165					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGATGGGATAGAGGTAAGGTA	0.333000													52	109					2.74224e-37	3.69358e-37	1	1	0
RIOK3	8780	broad.mit.edu	37	18	21044578	21044578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21044578G>A	ENST00000339486.3	+	5	1146	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RIOK3_ENST00000581585.1_Missense_Mutation_p.A161T|RIOK3_ENST00000577501.1_Missense_Mutation_p.A177T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	177					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAACACAGCAAGAATGGA	0.333000													6	30					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912339	101912339	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912339T>A	ENST00000537097.1	+	6	4311	c.3498T>A	c.(3496-3498)atT>atA	p.I1166I	GPRASP1_ENST00000415986.1_Silent_p.I1166I|GPRASP1_ENST00000361600.5_Silent_p.I1166I|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.I1166I	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1166	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGAAAAAATTCGGGATCCTT	0.373000													27	50					0	0	1	0	0
ZWINT	0	broad.mit.edu	37	10	58118442	58118442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:58118442G>A	ENST00000373944.3	-	7	705	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ZWINT_ENST00000318387.2_Silent_p.L103L|ZWINT_ENST00000361148.6_Silent_p.L176L|ZWINT_ENST00000395405.1_Silent_p.L223L|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	223					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGAACAACAGCTTACCCTGC	0.517000													15	26					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644945	53644945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53644945C>A	ENST00000452676.2	-	5	1565	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G380V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G379V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTCATT	0.418000													9	89					2.17888e-05	2.45068e-05	1	1	0
COPS4	51138	broad.mit.edu	37	4	83984237	83984237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984237C>T	ENST00000509093.1	+	7	1502	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	COPS4_ENST00000503682.1_Missense_Mutation_p.R242C|COPS4_ENST00000511653.1_Missense_Mutation_p.R242C|COPS4_ENST00000264389.2_Missense_Mutation_p.R242C	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	242	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGGGCAGCAGCGTTCTCGGAT	0.378000													33	54					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2288928	2288928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2288928G>T	ENST00000378531.3	-	10	1152	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L327M	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	327										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCAGCTCCAGGTCTCCCCTG	0.672000													23	58					3.7963e-18	4.94062e-18	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139909249	139909249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139909249G>T	ENST00000297183.6	+	29	6842	c.6718G>T	c.(6718-6720)Gat>Tat	p.D2240Y	ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D2240Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502000													12	110					0.0167234	0.0172941	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113729440	113729440	+	Silent	SNP	G	G	A	rs145592732	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729440G>A	ENST00000397030.1	+	11	1381	c.1344G>A	c.(1342-1344)gcG>gcA	p.A448A	MCF2L_ENST00000375597.4_Silent_p.A413A|MCF2L_ENST00000375608.3_Silent_p.A445A|MCF2L_ENST00000535094.2_Silent_p.A415A|MCF2L_ENST00000434480.2_Silent_p.A421A|MCF2L_ENST00000375601.3_Silent_p.A419A|MCF2L_ENST00000442652.2_Silent_p.A445A|MCF2L_ENST00000375604.2_Silent_p.A472A|MCF2L_ENST00000421756.1_Silent_p.A419A|MCF2L_ENST00000423482.2_Silent_p.A413A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	445					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGTTCTCTGCGGAGATCGCAA	0.667000													21	26					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41091710	41091710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41091710G>A	ENST00000324545.7	+	45	8279	c.7646G>A	c.(7645-7647)gGc>gAc	p.G2549D	USP9X_ENST00000378308.2_Missense_Mutation_p.G2533D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2549					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGAACTGGCCAACGAGCA	0.433000													18	32					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17889964	17889964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17889964G>A	ENST00000448223.2	-	17	2056	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SMC6_ENST00000381272.4_Missense_Mutation_p.A622V|SMC6_ENST00000402989.1_Missense_Mutation_p.A596V|SMC6_ENST00000351948.4_Missense_Mutation_p.A596V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	596	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCCACAACCGCATTATCTAT	0.358000													28	46					0	0	1	0	0
KCNMB3	27094	broad.mit.edu	37	3	178960736	178960736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178960736G>A	ENST00000392685.2	-	3	1423	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000349697.2_Silent_p.L264L|KCNMB3_ENST00000314235.5_Silent_p.L266L|KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000485523.1_Silent_p.L244L	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	266					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ATAATGCACAGTTTGAACTGA	0.413000													46	65					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147675	33147675	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147675C>T	ENST00000360668.3	+	4	1100	c.339C>T	c.(337-339)taC>taT	p.Y113Y	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.Y113Y|MAP1LC3A_ENST00000374837.3_Silent_p.Y117Y			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	113					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						ATATGGTCTACGCCTCCCAGG	0.637000													19	33					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817011	82817011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82817011G>T	ENST00000265077.3	+	7	3451	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	VCAN_ENST00000512590.2_Missense_Mutation_p.E914D|VCAN_ENST00000342785.4_Missense_Mutation_p.E962D|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	962	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCACCCAAGAGCCTACTACTT	0.433000													45	81					2.74695e-27	3.66379e-27	1	1	0
ZDHHC5	25921	broad.mit.edu	37	11	57466563	57466563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57466563G>A	ENST00000287169.3	+	11	3017	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R499H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	552						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAGTTGCTGCGCCAGTCACCC	0.617000													40	47					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939405	40939405	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40939405A>G	ENST00000246914.5	+	7	1607	c.1586A>G	c.(1585-1587)gAa>gGa	p.E529G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGCAAGGGAATTGGAGGCA	0.627000													8	52					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333000													32	74					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025661	176025661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025661G>A	ENST00000303991.4	-	2	1352	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	392						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTAGTATCCGTGTGGCCAGA	0.522000													6	49					0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32016586	32016586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32016586C>T	ENST00000382151.2	-	7	1275	c.856G>A	c.(856-858)Gct>Act	p.A286T	PISD_ENST00000336566.4_Missense_Mutation_p.A319T|PISD_ENST00000266095.5_Missense_Mutation_p.A286T|PISD_ENST00000397500.1_Intron|PISD_ENST00000439502.2_Missense_Mutation_p.A320T|PISD_ENST00000478893.1_5'UTR			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	320					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCCCCCACAGCTGTCAGTGAG	0.582000													3	36					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70783181	70783181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70783181G>A	ENST00000373719.3	+	18	2485	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	OGT_ENST00000373701.3_Missense_Mutation_p.M746I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	756					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTTTCAGATGAAGTGTCCTG	0.353000													45	55					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140382	27140382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27140382G>A	ENST00000222718.5	-	2	1404	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	365						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGGTGAGTGTGTCTGTAAA	0.433000													34	135					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969487	235969487	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969487C>T	ENST00000389794.3	-	6	3123	c.2949G>A	c.(2947-2949)agG>agA	p.R983R	LYST_ENST00000389793.2_Silent_p.R983R|LYST_ENST00000536965.1_Silent_p.R983R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	983					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACCACCAAGCCTATAAAACT	0.398000													27	50					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194543	52194543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194543C>T	ENST00000395718.2	+	14	1926	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	FRMD6_ENST00000344768.5_Silent_p.F555F|FRMD6_ENST00000554167.1_Silent_p.F478F|FRMD6_ENST00000553556.1_Silent_p.F197F|FRMD6_ENST00000356218.4_Silent_p.F547F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	555						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAAAGACTTCCTGCGCATTG	0.488000													32	70					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95843352	95843352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95843352T>C	ENST00000398107.2	+	2	554	c.32T>C	c.(31-33)tTg>tCg	p.L11S	ZNF2_ENST00000425369.1_Missense_Mutation_p.L11S|ZNF2_ENST00000295210.6_Missense_Mutation_p.L53S|ZNF2_ENST00000453539.2_Missense_Mutation_p.L53S|ZNF2_ENST00000340539.5_Missense_Mutation_p.L53S	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	53				MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTGTGTCATTGGGTAAGGGG	0.517000													36	43					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43503647	43503647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43503647G>A	ENST00000300215.3	-	4	1063	c.606C>T	c.(604-606)gaC>gaT	p.D202D	EPB42_ENST00000540029.1_Silent_p.D94D|EPB42_ENST00000441366.2_Silent_p.D172D			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	172					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTGGATGCAGTCAGCTGTAC	0.547000													6	75					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757937	128757937	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128757937G>T	ENST00000357702.5	-	8	1170	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	SAP130_ENST00000259235.3_Missense_Mutation_p.L347I|SAP130_ENST00000259234.6_Missense_Mutation_p.L321I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	347					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAGATGGTAGTGTGATTCTT	0.473000													6	71					0.0381472	0.0390147	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498000													6	79					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690097	33690097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33690097C>A	ENST00000394566.1	-	4	1002	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SLFN11_ENST00000308377.4_Missense_Mutation_p.G244C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	244						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAGATAGCCTCCTCCAGTG	0.388000													63	120					1.95512e-22	2.5808e-22	1	1	0
ANO8	57719	broad.mit.edu	37	19	17441161	17441161	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17441161C>T	ENST00000159087.4	-	9	1304	c.1146_splice	c.e9+1	p.Q382_splice		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	382	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGGGTCACCTGCAGCTGGA	0.642000													8	6					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35106301	35106301	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35106301A>G	ENST00000378561.1	-	5	4221	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A	FAM214B_ENST00000488109.2_Missense_Mutation_p.V389A|FAM214B_ENST00000605244.1_Missense_Mutation_p.V389A|FAM214B_ENST00000603301.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378566.1_Missense_Mutation_p.V84A|FAM214B_ENST00000378557.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378554.2_Missense_Mutation_p.V389A|FAM214B_ENST00000322813.5_Missense_Mutation_p.V389A			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	389						nucleus											TGTGACAGTGACAGGCAGCGT	0.532000													13	34					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6909495	6909495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6909495G>T	ENST00000011653.4	+	3	330	c.72G>T	c.(70-72)caG>caT	p.Q24H	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	24					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAGCCACTCAGGGAAAGAAAG	0.522000													17	25					3.57192e-18	4.65187e-18	1	1	0
RASD2	23551	broad.mit.edu	37	22	35948047	35948047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35948047G>A	ENST00000216127.4	+	3	1411	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	257					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGAAGGCCAGGCCCGTGAGAG	0.657000													21	40					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	156186309	156186309	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156186309T>G	ENST00000435422.3	+	8	1265	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	SGCD_ENST00000337851.4_Missense_Mutation_p.F261V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGAAGGTCTTCGAGATCTG	0.483000													36	64					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45533519	45533519	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533519A>G	ENST00000379161.4	-	7	1064	c.1018T>C	c.(1018-1020)Tct>Cct	p.S340P		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	340					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGCTTACCAGAATCACTGTTT	0.393000													6	61					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659281	196659281	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659281C>T	ENST00000367429.4	+	9	1488	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	CFH_ENST00000439155.2_Silent_p.C416C|CFH_ENST00000359637.2_Silent_p.C352C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	416	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413000													29	25					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641519	127641519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127641519A>G	ENST00000508053.1	-	49	6518	c.5544T>C	c.(5542-5544)tgT>tgC	p.C1848C	FBN2_ENST00000262464.4_Silent_p.C1848C			P35556	FBN2_HUMAN	fibrillin 2	1848	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATTACCTTCACAAACCAACA	0.358000													9	93					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69495966	69495966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69495966C>T	ENST00000374495.3	+	6	278	c.180C>T	c.(178-180)ggC>ggT	p.G60G	ARR3_ENST00000307959.8_Silent_p.G60G			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	60					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCGCTATGGCCGTGATGACT	0.542000													16	24					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31976257	31976257	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31976257G>A	ENST00000443326.1	+	10	1302		c.e10-1		SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000400289.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Splice_Site	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCTTTGCACAGTATTTTTGCT	0.468000													13	15					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161513	43161513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161513G>A	ENST00000352483.2	-	9	2048	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	RIPK4_ENST00000542057.1_Missense_Mutation_p.R551C|RIPK4_ENST00000332512.3_Missense_Mutation_p.R614C|RIPK4_ENST00000544709.1_Missense_Mutation_p.R551C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	614						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCCCGCGCTGTGCGGCC	0.687000													35	58					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237619941	237619941	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237619941C>T	ENST00000366574.2	+	16	1835	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RYR2_ENST00000542537.1_Silent_p.H490H|RYR2_ENST00000360064.6_Silent_p.H504H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGTTTGCACGTCTACAGCA	0.433000													5	111					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861780	57861780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57861780C>T	ENST00000228682.2	+	10	1172	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	GLI1_ENST00000546141.1_Missense_Mutation_p.P320S|GLI1_ENST00000543426.1_Missense_Mutation_p.P233S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	361					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCAACAGAAGCCGTATGTATG	0.517000													9	21					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20231450	20231450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20231450G>A	ENST00000375120.3	+	6	806	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	269										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATTGCCGTGCTTCGGAT	0.299000													23	55					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19443764	19443764	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19443764G>T	ENST00000375267.2	-	73	10777	c.10774C>A	c.(10774-10776)Ctg>Atg	p.L3592M	UBR4_ENST00000375254.3_Missense_Mutation_p.L3592M|UBR4_ENST00000375217.2_Missense_Mutation_p.L3585M|UBR4_ENST00000375226.2_Missense_Mutation_p.L3568M|UBR4_ENST00000375218.3_Missense_Mutation_p.L7M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3592					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATAATACAGGTTGATGGTC	0.517000													38	84					3.38236e-24	4.48518e-24	1	1	0
FAM228A	653140	broad.mit.edu	37	2	24406370	24406370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24406370G>A	ENST00000295150.3	+	5	343	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		GTAGGAAAACGACATTCCATA	0.418000													10	18					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20699541A>G	ENST00000298925.5	+	3	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_ENST00000325319.5_Missense_Mutation_p.N40S|NELL1_ENST00000357134.5_Missense_Mutation_p.N40S|NELL1_ENST00000532434.1_Missense_Mutation_p.N40S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	40					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488000													28	58					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377139	125377139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125377139C>T	ENST00000297913.2	+	1	192	c.123C>T	c.(121-123)ggC>ggT	p.G41G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATATTTCTGGCAACTTGGCCA	0.478000													10	121					0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11733805	11733805	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733805A>C	ENST00000376753.4	+	6	914	c.779A>C	c.(778-780)aAg>aCg	p.K260T		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	260					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCCCCAAGATGACCAGG	0.617000													22	30					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58201119	58201119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201119A>G	ENST00000537081.1	-	12	1464	c.1465T>C	c.(1465-1467)Ttt>Ctt	p.F489L	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.F496L			O75366	AVIL_HUMAN	advillin	496	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCACCTCAAAGATAACTAGC	0.517000													13	101					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27076339	27076339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27076339T>C	ENST00000262395.5	+	7	1286	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Splice_Site	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	386	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCGCCGTGTCACCTTCTCC	0.567000													14	23					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59064130	59064130	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064130C>A	ENST00000507116.1	-	1	341	c.206G>T	c.(205-207)aGa>aTa	p.R69I	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R69I	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GAGAAGCATTCTGCGCAGAAG	0.537000													56	73					1.98717e-13	2.52046e-13	1	1	0
G6PD	2539	broad.mit.edu	37	X	153774302	153774302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153774302G>A	ENST00000393562.2	-	2	542	c.159C>T	c.(157-159)ggC>ggT	p.G53G	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.G23G|G6PD_ENST00000393564.2_Silent_p.G23G|IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369609.5_Intron	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	23					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAGGCATCGCCCTGGAAAA	0.567000													93	105					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717916	73717916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717916G>T	ENST00000264448.6	+	10	8938	c.8827G>T	c.(8827-8829)Gaa>Taa	p.E2943*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2901*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2943					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAATGAGAGAAAACCATTC	0.438000													11	170					9.70103e-10	1.18443e-09	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604564	13604564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13604564C>T	ENST00000040738.5	-	10	4095	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1320							DNA binding										CAGAGTGATCCGCAGGGGAGG	0.463000													21	54					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244955	46244955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244955C>T	ENST00000334344.6	+	15	3221	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y	ARID2_ENST00000444670.1_Missense_Mutation_p.H627Y|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.H868Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1017	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCAGCAACATTCACCAGC	0.512000			"""N, S, F"""		hepatocellular carcinoma								18	36					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85936747	85936747	+	Silent	SNP	C	C	T	rs150193781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85936747C>T	ENST00000268638.5	+	2	548	c.126C>T	c.(124-126)caC>caT	p.H42H	IRF8_ENST00000563180.1_Silent_p.H42H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	42					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CTTGGAAACACGCTGGCAAGC	0.507000													10	42					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150154607	150154607	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150154607T>C	ENST00000325307.7	+	3	330	c.234T>C	c.(232-234)taT>taC	p.Y78Y	HMGB3_ENST00000448905.2_Silent_p.Y78Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	78					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGATTATGGACCAGCTA	0.413000													6	35					0	0	1	0	0
MSI2	0	broad.mit.edu	37	17	55334830	55334830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55334830G>A	ENST00000284073.2	+	3	316	c.107G>A	c.(106-108)aGc>aAc	p.S36N	MSI2_ENST00000322684.3_Missense_Mutation_p.S32N|MSI2_ENST00000416426.2_Missense_Mutation_p.S14N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	36	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCTACAGATAGCCTTAGAGAC	0.398000			T	HOXA9	CML								8	17					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54452064	54452064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:54452064C>T	ENST00000566473.2	+	7	908	c.908C>T	c.(907-909)aCc>aTc	p.T303I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.T303I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	303	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGTAGTAACCAGGTATAAA	0.438000													26	62					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35726441	35726441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35726441C>T	ENST00000382034.5	+	9	1008	c.666C>T	c.(664-666)gaC>gaT	p.D222D	TOM1_ENST00000425375.1_Silent_p.D244D|TOM1_ENST00000411850.1_Silent_p.D289D|TOM1_ENST00000449058.2_Silent_p.D289D|TOM1_ENST00000436462.2_Silent_p.D251D|TOM1_ENST00000447733.1_Silent_p.D256D			O60784	TOM1_HUMAN	target of myb1 (chicken)	289	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGTCAATGACAATCTCAACA	0.602000													6	93					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508319	36508319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508319G>A	ENST00000360535.4	-	12	1712	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	CLIP3_ENST00000593074.1_Silent_p.S495S|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	495	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTCCAACGCTGTCCCCGG	0.562000													11	18					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542000													45	83					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275219	74275219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74275219C>T	ENST00000409262.3	+	1	1770	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGCTTCCCGGCCCCCCTT	0.592000													11	13					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643931	6643931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6643931C>T	ENST00000299441.3	-	21	9387	c.8976G>A	c.(8974-8976)gaG>gaA	p.E2992E		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2992					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTAGGTGGCTCCCGGCCCA	0.642000													4	2					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901153	16901153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901153C>T	ENST00000430580.2	-	21	3114	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	NBPF1_ENST00000287968.8_Missense_Mutation_p.E108K|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	743	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493000													54	376					0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13366719	13366719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13366719C>T	ENST00000256951.5	+	4	479	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	EMP1_ENST00000431267.2_Missense_Mutation_p.R27W|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000544053.1_Missense_Mutation_p.R27W|EMP1_ENST00000396301.3_Missense_Mutation_p.R94W|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	94					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGGGAAACCGGTTCTTCCT	0.498000													37	59					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967506	21967506	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21967506T>C	ENST00000298717.4	-	9	1613	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	488					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GGATTTCCTTTGACACCAACC	0.438000													3	58					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276477	114276477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114276477G>T	ENST00000357077.4	+	38	6756	c.6703G>T	c.(6703-6705)Ggc>Tgc	p.G2235C	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2202C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2202					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCATGAAGGCCTAGCAGA	0.507000													10	93					1.5842e-08	1.90059e-08	1	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136406006	136406006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136406006G>A	ENST00000393061.3	+	7	1324	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G189S|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G189S			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	189					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGCCCATCGGCTGTGACGG	0.682000													11	15					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863836	192863836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192863836G>A	ENST00000392314.1	-	6	1026	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.S212L			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	212	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378000													55	75					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2650376	2650376	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2650376A>G	ENST00000382100.2	+	15	2467	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	VLDLR_ENST00000382099.2_Missense_Mutation_p.N704S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	704	EGF-like 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTAGGTAAAAATTGGTGTGAA	0.413000													3	37					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573202	57573202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57573202C>T	ENST00000243077.3	+	29	5295	c.4829C>T	c.(4828-4830)aCg>aTg	p.T1610M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1610					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCTCCTTCACGGTGCCCGAC	0.567000													15	17					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954212	30954212	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30954212T>G	ENST00000376296.3	+	2	501	c.260T>G	c.(259-261)aTc>aGc	p.I87S	MUC21_ENST00000486149.2_De_novo_Start_InFrame	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	87	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGATCAGCACAGCC	0.577000													32	79					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097881	20097881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20097881C>A	ENST00000294543.6	-	5	515	c.274G>T	c.(274-276)Gga>Tga	p.G92*	TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G92*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G92*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	92						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTTCACCTCCCAGGCCGCTC	0.537000													17	31					0.000422831	0.000460248	1	1	0
CCT7	10574	broad.mit.edu	37	2	73470241	73470241	+	Missense_Mutation	SNP	G	G	A	rs11544996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73470241G>A	ENST00000539919.1	+	5	616	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CCT7_ENST00000258091.5_Missense_Mutation_p.R126H|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_Missense_Mutation_p.A16T|CCT7_ENST00000537131.1_Missense_Mutation_p.R26H|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.R39H	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	126					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGAGCTTTCCGCACAGCCACC	0.512000													34	46					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124635295	124635295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124635295G>A	ENST00000311075.3	-	6	868	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	277	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTGTCATCAGCACGCATTTC	0.333000													7	10					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27945278	27945278	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27945278G>A	ENST00000435845.2	-	1	325	c.306C>T	c.(304-306)agC>agT	p.S102S	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	143						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGCCTGAGGCTTGGAGCGA	0.637000													3	20					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625621	65625621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65625621G>A	ENST00000327987.4	-	6	1207	c.956C>T	c.(955-957)aCg>aTg	p.T319M	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637000													5	32					0	0	1	0	0
NPY4R	0	broad.mit.edu	37	10	47086888	47086888	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47086888G>A	ENST00000374312.1	+	3	524	c.105G>A	c.(103-105)caG>caA	p.Q35Q	NPY4R_ENST00000395716.1_Silent_p.Q35Q	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AACATTGCCAGGATTCCGTGG	0.537000													5	123					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54800551	54800551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54800551T>C	ENST00000218436.6	-	6	895	c.866A>G	c.(865-867)gAc>gGc	p.D289G		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	289	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCTGCTTACGTCAATAACAAA	0.418000													5	34					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312385	113312385	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113312385C>A	ENST00000401783.2	-	2	868		c.e2-1		SVEP1_ENST00000374461.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGAATTTGCTGTAATGAAA	0.393000													22	190					5.35047e-06	6.11229e-06	1	1	0
APCDD1L	164284	broad.mit.edu	37	20	57036050	57036050	+	Missense_Mutation	SNP	A	A	T	rs143927973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57036050A>T	ENST00000371149.3	-	4	1532	c.1302T>A	c.(1300-1302)gaT>gaA	p.D434E	APCDD1L_ENST00000439429.1_Missense_Mutation_p.D445E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	434						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACTTGAGCCATCGGTGGGCC	0.622000													7	97					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089920	73089920	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089920C>A	ENST00000450736.2	+	2	604	c.189C>A	c.(187-189)ctC>ctA	p.L63L	SLC16A5_ENST00000580123.1_Silent_p.L63L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L63L|SLC16A5_ENST00000538213.2_Silent_p.L103L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	63					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CGGCTGTGCTCCACATGGCAG	0.592000													6	87					0.0215528	0.0221649	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846833	123846833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846833C>T	ENST00000369005.1	+	4	5158	c.4818C>T	c.(4816-4818)tgC>tgT	p.C1606C	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.C1606C|TACC2_ENST00000515273.1_Silent_p.C1606C|TACC2_ENST00000453444.2_Silent_p.C1606C|TACC2_ENST00000515603.1_Silent_p.C1606C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1606						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGCCTGCGACAGTCCAC	0.592000													18	33					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27922074	27922074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27922074C>T	ENST00000413272.2	-	7	1028	c.886G>A	c.(886-888)Gac>Aac	p.D296N	NUGGC_ENST00000341513.6_Missense_Mutation_p.D296N	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.D296N(1)									CTGTTGAAGTCGCCTGTGCCT	0.507000													11	26					0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20711343	20711343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20711343G>A	ENST00000360916.5	+	5	704	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PACRGL_ENST00000507634.1_Missense_Mutation_p.E105K|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.E105K|PACRGL_ENST00000503585.1_Missense_Mutation_p.E105K|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	105							binding			endometrium(2)|lung(7)|prostate(1)	10						ATTACAGTGGGAATGTCCTCC	0.289000													30	58					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087717	175087717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175087717C>A	ENST00000239462.4	+	11	2520	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	803	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCCAAAACCTGGTCACTGA	0.522000													6	67					0.00116845	0.00124821	1	1	0
MIB2	142678	broad.mit.edu	37	1	1563491	1563491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1563491C>T	ENST00000357210.4	+	14	2163	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	MIB2_ENST00000504599.1_Silent_p.I605I|MIB2_ENST00000355826.5_Silent_p.I692I|MIB2_ENST00000378712.1_Silent_p.I526I|MIB2_ENST00000520777.1_Silent_p.I702I|MIB2_ENST00000378708.1_Silent_p.I555I|MIB2_ENST00000378710.3_Silent_p.I613I|MIB2_ENST00000360522.4_Silent_p.I614I|MIB2_ENST00000518681.1_Silent_p.I641I|MIB2_ENST00000505820.2_Silent_p.I706I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	649					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCAAACATCGATGTTACCG	0.662000													10	12					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682846	67682846	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67682846C>T	ENST00000334583.6	+	17	1888	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	RLTPR_ENST00000545661.1_Silent_p.G484G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	520										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGACGCAGGCGCTGTGAGCT	0.627000													8	7					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57029857	57029857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57029857G>A	ENST00000308031.5	+	4	300	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.C56Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTAGGTCTTTGCATTTCTAAG	0.398000													6	10					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122459	119122459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119122459C>A	ENST00000378204.2	-	1	1633	c.827G>T	c.(826-828)gGa>gTa	p.G276V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	276					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTGTCTGATCCTATCCCTGT	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				5	56					0.000602214	0.000649039	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48120658	48120658	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120658T>C	ENST00000311303.3	-	26	4053	c.3708A>G	c.(3706-3708)agA>agG	p.R1236R	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1236	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACTGTGTCTCTCATGAATG	0.507000													14	121					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122111440	122111440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122111440C>T	ENST00000334010.7	-	13	2599	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	CADPS2_ENST00000313070.7_Silent_p.V722V|CADPS2_ENST00000449022.2_Silent_p.V725V|CADPS2_ENST00000412584.2_Silent_p.V722V	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	725					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTGCCGTGCACATGAGAGG	0.423000													5	33					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103528372	103528372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528372G>A	ENST00000226574.4	+	18	2487	c.2020G>A	c.(2020-2022)Gct>Act	p.A674T	NFKB1_ENST00000600343.1_Missense_Mutation_p.A493T|NFKB1_ENST00000505458.1_Missense_Mutation_p.A673T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A673T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	673	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGTGGCCGCTGGGGCTGA	0.577000													5	70					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64401711	64401711	+	Silent	SNP	C	C	T	rs137872439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64401711C>T	ENST00000262043.3	+	5	2614	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	PHF3_ENST00000393387.1_Silent_p.G758G			Q92576	PHF3_HUMAN	PHD finger protein 3	758					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.G758G(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGATGGGCGAGGAAGACA	0.413000													57	96					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855859	130855859	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130855859C>T	ENST00000245255.3	+	20	2732	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	820	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATCTATTACAACTGGCCAG	0.408000													40	47					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70922494	70922494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70922494G>A	ENST00000340941.6	+	7	781	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Missense_Mutation_p.A218T|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	218	Carboxyltransferase.		A -> T (in MCC2 deficiency).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTCCTGCACCGCAGGAGGAGC	0.498000													22	29					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217722	155217722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155217722G>T	ENST00000361361.2	-	12	2367	c.1858C>A	c.(1858-1860)Cct>Act	p.P620T	FAM189B_ENST00000368368.3_Missense_Mutation_p.P602T|FAM189B_ENST00000350210.2_Missense_Mutation_p.P524T	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	620						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCCAGGCCGGCCCCAC	0.617000													5	11					5.68852e-11	7.05143e-11	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53865452	53865452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865452G>A	ENST00000603815.1	+	14	1272	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	PCBP2_ENST00000455667.3_Missense_Mutation_p.A261T|PCBP2_ENST00000548933.1_Missense_Mutation_p.A278T|PCBP2_ENST00000359282.5_Missense_Mutation_p.A274T|PCBP2_ENST00000437231.1_Missense_Mutation_p.A261T|PCBP2_ENST00000359462.5_Missense_Mutation_p.A309T|PCBP2_ENST00000552296.2_Missense_Mutation_p.A304T|PCBP2_ENST00000552819.1_Missense_Mutation_p.A265T|PCBP2_ENST00000439930.3_Missense_Mutation_p.A308T|PCBP2_ENST00000447282.1_Missense_Mutation_p.A278T|PCBP2_ENST00000549863.1_Missense_Mutation_p.A264T|PCBP2_ENST00000546463.1_Missense_Mutation_p.A305T	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	308	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GCGTCAAGGCGCCAAAATCAA	0.493000													21	10					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5812154	5812154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812154C>A	ENST00000339450.5	-	6	1174	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R138I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	362					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TGTTAGAATTCTGTCCGCTGT	0.313000													6	92					0.0293803	0.0301098	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48460444	48460444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48460444C>T	ENST00000358536.4	-	13	3106	c.2837G>A	c.(2836-2838)gGc>gAc	p.G946D	PLXNB1_ENST00000358459.4_Missense_Mutation_p.G763D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G946D|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G763D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	946					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTCCTGGGCCATCCTGAGG	0.622000													3	30					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032043	83032043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83032043G>A	ENST00000307792.3	-	10	1515	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R290W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	350	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGCTGCCCGAATGCTAGAC	0.408000													23	44					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8117155	8117155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117155G>A	ENST00000305253.4	+	6	914	c.673G>A	c.(673-675)Gct>Act	p.A225T	TUB_ENST00000534099.1_Missense_Mutation_p.A176T|TUB_ENST00000299506.2_Missense_Mutation_p.A170T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	170					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAGACGGCAGCTGGTGGGGG	0.652000													8	5					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125267	226125267	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226125267G>T	ENST00000366820.5	-	4	1323	c.975C>A	c.(973-975)ccC>ccA	p.P325P	LEFTY2_ENST00000420304.2_Silent_p.P291P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	325					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGACGATCATGGGCAGCGAGG	0.657000													4	45					0.014758	0.0152625	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49741399	49741399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49741399A>G	ENST00000492622.2	+	9	1302	c.997A>G	c.(997-999)Act>Gct	p.T333A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T333A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T277A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	333	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AACAAATATCACTTTAAATGA	0.313000													6	45					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242560	53242560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242560C>T	ENST00000304620.4	-	1	218	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTACTCCCACGAGAGCCTTC	0.672000													6	10					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080085	171080085	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171080085G>T	ENST00000367755.4	+	6	885	c.774G>T	c.(772-774)aaG>aaT	p.K258N	FMO3_ENST00000542847.1_Missense_Mutation_p.K238N|FMO3_ENST00000538429.1_Missense_Mutation_p.K195N|FMO3_ENST00000392085.2_Missense_Mutation_p.K258N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	258					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTACGTGAAGCAGATGAATG	0.448000													16	108					4.14922e-12	5.2041e-12	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157502224	157502224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502224C>T	ENST00000346085.5	+	12	3258	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1073L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1068L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1126L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1073	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGGCTCTCCTGTCTCAAGT	0.562000													17	33					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404994	10404994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10404994A>G	ENST00000226207.5	-	26	3359	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1089						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358000													16	35					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35559184	35559184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35559184C>T	ENST00000262878.4	-	5	803	c.604G>A	c.(604-606)Gct>Act	p.A202T	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	202	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAAAGTCCAGCAATCTGAACA	0.413000													12	115					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21074810C>A	ENST00000377122.4	-	28	3307	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	NEBL_ENST00000417816.2_Missense_Mutation_p.D227Y|NEBL_ENST00000377159.4_Missense_Mutation_p.D193Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	971	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498000													16	32					1.99824e-07	2.35189e-07	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62299568	62299568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62299568G>A	ENST00000378024.4	-	5	2595	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	774					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGCCTTGGGCAGGTTCAC	0.507000													59	128					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783985	74783985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74783985G>A	ENST00000233668.5	+	5	1859	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G258D	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	397	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGAGGAGGGCTATGAGCTC	0.647000													7	140					0	0	1	0	0
KIAA0101	9768	broad.mit.edu	37	15	64658213	64658213	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64658213G>T	ENST00000380258.2	-	3	261	c.189C>A	c.(187-189)atC>atA	p.I63I	KIAA0101_ENST00000300035.4_3'UTR|CTD-2116N17.1_ENST00000606793.1_Intron|KIAA0101_ENST00000558008.1_3'UTR|KIAA0101_ENST00000559519.1_3'UTR|KIAA0101_ENST00000560234.1_3'UTR	NM_001029989.1	NP_001025160.1	Q15004	PAF_HUMAN	KIAA0101	0						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTTATTCAAAGATGAATGAGA	0.328000													17	25					0.000422831	0.000460248	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33875125	33875125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33875125C>T	ENST00000374408.3	-	4	1553	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	486										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTTGTGCCAGGTACCCA	0.632000													28	38					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005809	49005809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:49005809G>A	ENST00000226432.4	+	7	1043	c.860G>A	c.(859-861)gGc>gAc	p.G287D	CWH43_ENST00000513409.1_Missense_Mutation_p.G260D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	287					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512000													36	56					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147597	6147597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6147597C>A	ENST00000588304.1	+	3	504	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	ACSBG2_ENST00000586696.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L70I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATCCAGCCCTCGCATCCAA	0.463000													9	189					0.000442599	0.00048047	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12418629	12418629	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12418629A>G	ENST00000358136.3	+	50	10243	c.10113A>G	c.(10111-10113)ggA>ggG	p.G3371G	VPS13D_ENST00000356315.4_Silent_p.G3346G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3370					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCAGCAAGGAAACCGCCCAG	0.552000													18	25					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57115005	57115005	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57115005T>C	ENST00000454682.1	-	3	590	c.309A>G	c.(307-309)ctA>ctG	p.L103L	NACA_ENST00000550952.1_Silent_p.L103L|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	35	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGTTTGGTAGGAAGGTTG	0.547000			T	BCL6	NHL								4	34					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512530	71512530	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512530A>G	ENST00000370924.4	-	1	961	c.731T>C	c.(730-732)gTc>gCc	p.V244A	PTGER3_ENST00000354608.5_Missense_Mutation_p.V244A|PTGER3_ENST00000356595.4_Missense_Mutation_p.V244A|PTGER3_ENST00000370932.2_Missense_Mutation_p.V244A|PTGER3_ENST00000306666.5_Missense_Mutation_p.V244A|PTGER3_ENST00000351052.5_Missense_Mutation_p.V244A|PTGER3_ENST00000414819.1_Missense_Mutation_p.V244A|PTGER3_ENST00000370931.3_Missense_Mutation_p.V244A|PTGER3_ENST00000460330.1_Missense_Mutation_p.V244A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	244					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGAAAAGGTGACTGTCAGCGC	0.637000													27	52					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53440256	53440256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53440256C>T	ENST00000322213.4	-	4	668	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	181					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACTGTGTGTCCTCTTCAGCC	0.483000													41	87					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359496	125359496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125359496C>A	ENST00000278919.3	-	2	412	c.178G>T	c.(178-180)Gag>Tag	p.E60*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E60*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E60*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	60					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACGAGGTCCTCCATGGACTTG	0.483000													14	81					0.00185496	0.00197886	1	1	0
SBP1	0	broad.mit.edu	37	6	33663346	33663346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33663346C>T	ENST00000594414.1	-	1	128	c.129G>A	c.(127-129)ggG>ggA	p.G43G	ITPR3_ENST00000605930.1_Intron|ITPR3_ENST00000374316.5_Intron																							CCTTAAAGCACCCCGAGGGGC	0.592000													7	12					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085353	64085353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64085353C>T	ENST00000295902.6	-	8	2494	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G693R|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	637						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCATCCTTCCGTGGGACTGC	0.602000													30	45					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779359	52779359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779359C>T	ENST00000257951.3	-	1	77	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	4	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGGTAGGAGCGGCAAGACAT	0.572000													26	56					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100384	52100384	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52100384A>G	ENST00000354534.5	+	11	1698	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	SCN8A_ENST00000545061.1_Missense_Mutation_p.E507G|SCN8A_ENST00000550891.1_Missense_Mutation_p.E507G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	507					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTGAAGGAGAGGAGAAAGGG	0.468000													4	7					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129787027	129787027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129787027C>T	ENST00000358825.5	-	16	2563	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	PRDM10_ENST00000304538.6_Missense_Mutation_p.D688N|PRDM10_ENST00000360871.3_Missense_Mutation_p.D774N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D692N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D692N|PRDM10_ENST00000528746.1_Missense_Mutation_p.D748N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D774N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTACCTTATCGCAATACTGA	0.378000													25	37					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50294242C>A	ENST00000313601.6	+	6	1065	c.681C>A	c.(679-681)gcC>gcA	p.A227A	GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.A146A	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572000													16	59					2.32078e-09	2.82054e-09	1	1	0
NUP107	57122	broad.mit.edu	37	12	69083346	69083346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69083346C>A	ENST00000229179.4	+	3	466	c.134C>A	c.(133-135)aCt>aAt	p.T45N	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.L7I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	45					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGGTAATACTACACCAAGA	0.328000													7	80					0.00448238	0.00472561	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19498417	19498417	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19498417C>T	ENST00000328405.2	+	11	2249	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	661						integral to membrane	two-component sensor activity	p.F661F(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413000													21	28					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049350	67049350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049350G>A	ENST00000308595.5	+	11	1174	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R295H|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	295	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGACATGCGCTTCTATGCG	0.642000													30	41					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7789844C>T	ENST00000338316.4	+	20	2648	c.2559C>T	c.(2557-2559)cgC>cgT	p.R853R	ADCY2_ENST00000537121.1_Silent_p.R673R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532000													6	43					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236966835G>A	ENST00000366577.5	+	2	536	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.E48K	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463000													49	49					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99022750	99022750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99022750C>A	ENST00000292478.4	-	6	1655	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G518W|PTCD1_ENST00000555673.1_Missense_Mutation_p.G518W	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGGCCCCCTATCAAGGCC	0.657000													9	75					0.000274275	0.000298791	1	1	0
SACS	26278	broad.mit.edu	37	13	23911318	23911318	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911318T>C	ENST00000382298.3	-	10	7285	c.6697A>G	c.(6697-6699)Agt>Ggt	p.S2233G	SACS_ENST00000382292.3_Missense_Mutation_p.S2233G|SACS_ENST00000402364.1_Missense_Mutation_p.S1483G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2233					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCTTAAAACTGTTGCCTTTC	0.383000													7	48					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62254828	62254828	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62254828A>G	ENST00000474889.1	+	20	3370	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N969S|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	998	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAATCAGAAATACAAAAGTG	0.403000													25	64					0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24714603	24714603	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24714603G>A	ENST00000378119.4	-	3	2539	c.372C>T	c.(370-372)atC>atT	p.I124I	C6orf62_ENST00000540769.1_Silent_p.I66I|C6orf62_ENST00000378102.3_Silent_p.I95I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	124						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGAGACAGACGATTTTTTCAA	0.333000													50	66					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768386	117768386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117768386G>A	ENST00000317775.6	-	2	1174	c.489C>T	c.(487-489)taC>taT	p.Y163Y	NOS1_ENST00000344089.3_Silent_p.Y163Y|NOS1_ENST00000338101.4_Silent_p.Y163Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682000													30	43					0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34515065	34515065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34515065C>T	ENST00000312319.2	-	3	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.E106K|ELF5_ENST00000257832.2_Missense_Mutation_p.E106K	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	116	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TACAGGTACTCGCCGCAGAGG	0.557000											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37857348	37857348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37857348G>T	ENST00000377724.3	+	5	1530	c.1165_splice	c.e5+1	p.G389_splice	DCAF10_ENST00000483167.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	389						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCAAAGAGAAGGTAGGTTAAA	0.333000													25	37					7.33532e-06	8.36534e-06	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37769952	37769952	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37769952C>A	ENST00000402918.1	-	3	2408	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	ELFN2_ENST00000349653.3_Silent_p.V541V|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	541						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGACCTTGTCCACCTCCTTGG	0.642000													6	91					0.00116845	0.00124821	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117529445	117529445	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529445C>A	ENST00000393203.2	+	9	2643	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	832						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAAGTATCCCTTGCTGATCG	0.607000													4	60					0.00909568	0.00947522	1	1	0
IFT140	9742	broad.mit.edu	37	16	1630804	1630804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1630804C>T	ENST00000426508.2	-	13	1843	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	494										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCGTGTAAACGTTTTCTTCA	0.498000													10	41					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512568	71512568	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512568G>T	ENST00000370924.4	-	1	923	c.693C>A	c.(691-693)gcC>gcA	p.A231A	PTGER3_ENST00000354608.5_Silent_p.A231A|PTGER3_ENST00000356595.4_Silent_p.A231A|PTGER3_ENST00000370932.2_Silent_p.A231A|PTGER3_ENST00000306666.5_Silent_p.A231A|PTGER3_ENST00000351052.5_Silent_p.A231A|PTGER3_ENST00000414819.1_Silent_p.A231A|PTGER3_ENST00000370931.3_Silent_p.A231A|PTGER3_ENST00000460330.1_Silent_p.A231A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	231					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CAAAGGCAGAGGCGAAGAAAA	0.627000													5	77					3.59834e-05	4.01776e-05	1	1	0
IRF8	3394	broad.mit.edu	37	16	85953808	85953808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85953808G>A	ENST00000268638.5	+	8	1504	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	IRF8_ENST00000562492.1_Missense_Mutation_p.R157H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	361					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCCCTTGCGCTCCAAACTC	0.502000													10	17					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56647841	56647841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56647841C>A	ENST00000389934.3	-	26	3959	c.3842G>T	c.(3841-3843)aGa>aTa	p.R1281I	TEX14_ENST00000349033.5_Missense_Mutation_p.R1241I|TEX14_ENST00000240361.8_Missense_Mutation_p.R1287I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1287						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGACAATCTTTTCTATAA	0.443000													6	48					0.0381472	0.0390147	1	1	0
INTS3	65123	broad.mit.edu	37	1	153733342	153733342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153733342C>T	ENST00000456435.1	+	13	1925	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	INTS3_ENST00000512605.1_Missense_Mutation_p.R247W|INTS3_ENST00000318967.2_Missense_Mutation_p.R453W|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R453W			Q68E01	INT3_HUMAN	integrator complex subunit 3	454					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCACGTGCGGCAGGGTGT	0.512000													14	93					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203329608	203329608	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203329608C>A	ENST00000374580.4	+	2	692	c.153C>A	c.(151-153)atC>atA	p.I51I	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Silent_p.I51I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	51					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAGTAGAATCTCTCATGAAA	0.398000													4	88					3.59834e-05	4.01776e-05	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35403967	35403967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35403967C>T	ENST00000378495.3	+	39	4935	c.4713C>T	c.(4711-4713)gaC>gaT	p.D1571D	UNC13B_ENST00000396787.1_Silent_p.D1602D|UNC13B_ENST00000378496.4_Silent_p.D1590D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1571					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCAATGACGAGGTGGCCC	0.552000													5	51					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190340124	190340124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190340124G>A	ENST00000314761.4	+	21	2534	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	825						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATAGACTACAGCTGGATAGCT	0.348000													6	17					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280061	100280061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100280061G>A	ENST00000275732.5	-	21	3854	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	882								p.T882M(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTTCCTCCGTCTTTTTGCG	0.617000													21	22					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124103	217124103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217124103T>C	ENST00000273067.4	-	4	2931	c.1165A>G	c.(1165-1167)Aga>Gga	p.R389G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	389						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCATGAGGTCTCAAGTGACTC	0.622000													30	40					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40578093	40578093	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40578093G>C	ENST00000342449.3	-	37	4383	c.4305C>G	c.(4303-4305)agC>agG	p.S1435R	BRWD1_ENST00000333229.2_Missense_Mutation_p.S1435R|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1435R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCTCTGGCTTCTTCGAA	0.323000													70	102					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004856	59004856	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59004856G>A	ENST00000371226.3	-	2	224	c.111C>T	c.(109-111)ggC>ggT	p.G37G	OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.G37G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	37					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTTGATGACAGCCCCGTGAGG	0.403000													8	132					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585820	158585820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158585820G>T	ENST00000424310.2	-	11	2209	c.1850C>A	c.(1849-1851)aCt>aAt	p.T617N	RNF145_ENST00000519865.1_Missense_Mutation_p.T617N|RNF145_ENST00000518802.1_Missense_Mutation_p.T647N|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.T634N|RNF145_ENST00000520638.1_Missense_Mutation_p.T631N|RNF145_ENST00000274542.2_Missense_Mutation_p.T645N	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	617						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCTGGAGTATGCTCCTG	0.507000													40	57					4.32679e-17	5.60236e-17	1	1	0
RBBP4	5928	broad.mit.edu	37	1	33145306	33145306	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33145306G>T	ENST00000373493.5	+	12	1437	c.1278G>T	c.(1276-1278)taG>taT	p.*426Y	RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y|RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	0					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGGTCCTAGATATGTCTTT	0.388000													21	33					7.87624e-14	1.00187e-13	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52867487	52867487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52867487C>T	ENST00000252250.6	-	1	82	c.35G>A	c.(34-36)aGc>aAc	p.S12N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	12	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCGGCTGCTGCTGTGGCTCCT	0.657000													9	17					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636912	1636912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1636912C>A	ENST00000409644.1	+	7	4581	c.4581C>A	c.(4579-4581)aaC>aaA	p.N1527K	WDR81_ENST00000446363.1_Missense_Mutation_p.N166K|WDR81_ENST00000437219.2_Missense_Mutation_p.N324K|WDR81_ENST00000419248.1_Missense_Mutation_p.N300K|WDR81_ENST00000309182.5_Missense_Mutation_p.N476K|WDR81_ENST00000545662.1_Missense_Mutation_p.N158K|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	300										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGTCGCAACCCTGCCAGCG	0.657000													11	66					0.00010058	0.000111121	1	1	0
PSD3	23362	broad.mit.edu	37	8	18430054	18430054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18430054G>A	ENST00000440756.2	-	14	2876	c.2774C>T	c.(2773-2775)aCa>aTa	p.T925I	PSD3_ENST00000327040.8_Missense_Mutation_p.T923I|PSD3_ENST00000428502.2_Missense_Mutation_p.T252I|PSD3_ENST00000523619.1_Missense_Mutation_p.T858I|PSD3_ENST00000286485.8_Missense_Mutation_p.T389I			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	924					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTTTGTTGTAGTGGCAGG	0.403000													39	58					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086350	171086350	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086350A>C	ENST00000367755.4	+	9	1478	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FMO3_ENST00000542847.1_Missense_Mutation_p.K436T|FMO3_ENST00000538429.1_Missense_Mutation_p.K393T|FMO3_ENST00000392085.2_Missense_Mutation_p.K456T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGATCCCAAATTGGCCATG	0.502000													5	55					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161791	141161791	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161791A>G	ENST00000514251.1	+	4	840	c.561A>G	c.(559-561)gcA>gcG	p.A187A	ZBTB38_ENST00000321464.5_Silent_p.A188A|ZBTB38_ENST00000441582.2_Silent_p.A187A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	187					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTTGAGGGCAAGTTTCAAAA	0.502000													9	94					0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50218357	50218357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50218357C>T	ENST00000359332.2	+	13	1178	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	363						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGTCAGATATCTTTATTACCT	0.333000													15	19					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682290	100682290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100682290G>T	ENST00000306151.4	+	3	7657	c.7593G>T	c.(7591-7593)gaG>gaT	p.E2531D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCC	0.488000													22	358					2.89027e-11	3.59474e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179446359	179446359	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446359T>C	ENST00000589042.1	-	316	66860	c.66636A>G	c.(66634-66636)ctA>ctG	p.L22212L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.L13147L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L19644L|TTN_ENST00000359218.5_Silent_p.L13272L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.L13339L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.L20571L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20571	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTTCTGTAGATTCTGTG	0.478000													8	23					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2977736	2977736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2977736C>T	ENST00000342628.2	-	4	952	c.839G>A	c.(838-840)gGc>gAc	p.G280D	FOXM1_ENST00000359843.3_Missense_Mutation_p.G280D|FOXM1_ENST00000361953.3_Missense_Mutation_p.G280D|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	280					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACCTTCCAGCCTGGCTTGGC	0.488000													8	99					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64825547	64825547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64825547G>A	ENST00000332707.5	+	18	2735	c.2206G>A	c.(2206-2208)Gca>Aca	p.A736T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	736	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTGTGAAGCAAAAGATCT	0.413000													42	47					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52585455	52585455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52585455G>A	ENST00000242839.4	-	1	175	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ATP7B_ENST00000344297.5_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.Q7*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	7					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGTGATCTGTCTCTCCTGC	0.597000									Wilson disease				5	55					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52570128	52570128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52570128C>T	ENST00000389534.4	-	7	1466	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R336Q|ZNF841_ENST00000359973.2_Missense_Mutation_p.R220Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R220Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTGACTTCTCCGGTGATTTAC	0.403000													11	19					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713256	32713256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32713256C>T	ENST00000373582.3	+	1	423	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAATGGACTCCGCCCTTGAGT	0.652000													20	40					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1164196	1164196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1164196C>T	ENST00000290902.5	-	5	1137	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPON2_ENST00000431380.1_Missense_Mutation_p.A269T	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	269					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617000													48	105					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650714	55650714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650714G>A	ENST00000339140.3	+	1	882	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	190					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGAAGTCCTGGCAAAGGCCCC	0.502000													8	30					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140590516	140590516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140590516C>T	ENST00000239450.2	+	1	2226	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	PCDHB12_ENST00000541609.1_Silent_p.A342A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		679					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.701000													38	45					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10262654	10262654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10262654G>A	ENST00000280326.4	+	9	1661	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	CCT5_ENST00000515676.1_Missense_Mutation_p.R376H|CCT5_ENST00000503026.1_Missense_Mutation_p.R393H|CCT5_ENST00000506600.1_Missense_Mutation_p.R321H|CCT5_ENST00000515390.1_Missense_Mutation_p.R359H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACCTCATCCGCGATAATCGT	0.493000													27	45					0	0	1	0	0
COG5	0	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106871105C>T	ENST00000393603.2	-	19	2487	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_ENST00000297135.3_Missense_Mutation_p.R739Q|COG5_ENST00000347053.3_Missense_Mutation_p.R718Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	718					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388000													18	214					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120690017	120690017	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120690017T>C	ENST00000263708.2	+	14	1859	c.1088T>C	c.(1087-1089)tTg>tCg	p.L363S	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	363						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTAAGCCCTTGGCACGGAAA	0.353000													3	31					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40800570	40800570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40800570C>T	ENST00000248929.9	+	6	565	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SGSM3_ENST00000454798.2_Missense_Mutation_p.R59W	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	126	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGTGGATGCGGCTCTCTGG	0.592000													12	14					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414197	20414197	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20414197C>T	ENST00000355930.6	-	0	905				MLLT3_ENST00000380338.4_Missense_Mutation_p.S216N|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S213N			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTGAAGGCACTTTTATGTTC	0.393000			T	MLL	ALL								30	274					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104335272	104335272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104335272G>A	ENST00000299767.5	+	9	1359	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	393					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCCACATCTGCTCCACGTGG	0.368000													10	107					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95735409	95735409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95735409G>A	ENST00000376887.4	-	21	2785	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	ABCC4_ENST00000412704.1_Missense_Mutation_p.R844C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	891	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATTCCAGGCGCTTCACATCT	0.438000													16	39					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443000										HNSCC(38;0.096)			18	94					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211057568	211057568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211057568G>T	ENST00000233710.3	-	10	1386	c.1159C>A	c.(1159-1161)Cat>Aat	p.H387N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	387					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAACCTCCATGGAGCTGTACA	0.353000													4	55					0.00909568	0.00947522	1	1	0
PTPRG	5793	broad.mit.edu	37	3	62063840	62063840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62063840C>T	ENST00000474889.1	+	5	900	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q175*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTACAGATGCAGATTTTCTT	0.303000													13	20					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223968589	223968589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223968589G>T	ENST00000391878.2	-	19	3752	c.2984C>A	c.(2983-2985)cCa>cAa	p.P995Q	TP53BP2_ENST00000343537.7_Missense_Mutation_p.P1124Q|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.P357Q	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1118	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTAATTCTTGGGTACAGCTG	0.323000													4	67					0.00024832	0.0002712	1	1	0
NUF2	83540	broad.mit.edu	37	1	163317594	163317594	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163317594A>C	ENST00000271452.3	+	12	1269	c.990A>C	c.(988-990)gaA>gaC	p.E330D	NUF2_ENST00000524800.1_Missense_Mutation_p.E283D|NUF2_ENST00000367900.3_Missense_Mutation_p.E330D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	330	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATGAGTCAGAACTGAAGAAAT	0.318000													21	42					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105185237C>T	ENST00000369797.3	+	20	3354	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532000													10	15					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090401	111090401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111090401G>A	ENST00000262839.2	-	6	2559	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	547					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGCTCATCGATAGCTCTGG	0.393000													13	168					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306115	23306115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306115C>A	ENST00000381990.2	+	7	1195	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.S287Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	345					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTAAAATCTTATGATTCA	0.363000													4	67					0.150653	0.152692	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196674469	196674469	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196674469C>T	ENST00000312428.6	-	52	9988	c.9888_splice	c.e52+1	p.A3296_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3296					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTACTGACCGCCCGCTCAT	0.328000													24	36					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50550015	50550015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50550015G>A	ENST00000595661.1	+	6	2810	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.C772Y|ZNF473_ENST00000445728.3_Missense_Mutation_p.C760Y|ZNF473_ENST00000391821.2_Missense_Mutation_p.C772Y			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	772					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGAGCTCATGCCTTTCTATT	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	31					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669379	80669379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669379C>T	ENST00000557125.1	-	2	98	c.99G>A	c.(97-99)tgG>tgA	p.W33*	DIO2_ENST00000557010.1_Missense_Mutation_p.V159I|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.V195I|DIO2_ENST00000438257.4_Missense_Mutation_p.V159I			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAATGTAGACCAGCAGGAAG	0.542000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0
PCDHB10	0	broad.mit.edu	37	5	140572975	140572975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140572975G>A	ENST00000239446.4	+	1	1034	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		284	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTGATGCCTCAGAAAA	0.378000													30	52					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4904038	4904038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4904038G>T	ENST00000380378.1	+	1	990	c.990G>T	c.(988-990)caG>caT	p.Q330H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.Q303H|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCCGCCAGGCTATGTTCC	0.483000													5	69					4.096e-09	4.95403e-09	1	1	0
RCE1	9986	broad.mit.edu	37	11	66612667	66612667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66612667G>A	ENST00000309657.3	+	6	694	c.650G>A	c.(649-651)cGt>cAt	p.R217H	RCE1_ENST00000525356.1_Missense_Mutation_p.R94H|RCE1_ENST00000524506.1_Missense_Mutation_p.R217H	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	217					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGCAGCTGCGTTTCCGCCAG	0.537000													15	22					0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600638	116600638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116600638C>T	ENST00000368608.3	-	1	428	c.356G>A	c.(355-357)cGc>cAc	p.R119H	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	119					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTTCAGGCTGCGGTCGGCTGC	0.672000													18	36					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030843	33030843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33030843G>T	ENST00000340811.4	-	3	1079	c.971C>A	c.(970-972)gCg>gAg	p.A324E	PKP2_ENST00000070846.6_Missense_Mutation_p.A324E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	324					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGCGGCCGCCTGGCCGAC	0.622000													17	18					2.48551e-13	3.1506e-13	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31362287	31362287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31362287C>A	ENST00000542188.1	-	3	590	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM1_ENST00000559179.1_Missense_Mutation_p.D54Y|TRPM1_ENST00000256552.6_Missense_Mutation_p.D76Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.D54Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	54					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATAGGAATCTGTTGGGTAG	0.483000													71	457					2.23399e-28	2.98541e-28	1	1	0
CAPG	822	broad.mit.edu	37	2	85628938	85628938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85628938C>A	ENST00000263867.4	-	3	415	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CAPG_ENST00000409670.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409724.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409921.1_Nonsense_Mutation_p.E56*	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	56					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAACCTCTTCTGGGCCATTG	0.607000													35	43					6.90743e-12	8.64953e-12	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24657946	24657946	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24657946C>T	ENST00000361548.4	+	2	278	c.48C>T	c.(46-48)gaC>gaT	p.D16D	GRHL3_ENST00000236255.4_Silent_p.D21D|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000350501.5_Silent_p.D16D|GRHL3_ENST00000342072.4_5'UTR	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	16					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACT	0.507000													16	40					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62293280	62293280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62293280C>T	ENST00000318100.4	+	4	1206	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R127W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R127W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R127W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R127W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	127	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAACGAGCTTCGGAACACCTC	0.552000													3	28					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58073914	58073914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58073914G>T	ENST00000219271.3	+	4	1361	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	192					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCGGCGACAGAAGGAGGCCG	0.647000													4	44					0.00909568	0.00947522	1	1	0
FUT2	2524	broad.mit.edu	37	19	49206262	49206262	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206262C>A	ENST00000425340.2	+	2	166	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	FUT2_ENST00000391876.4_Missense_Mutation_p.L17I	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCACTTCATCCTCTTTGTCTT	0.542000													12	175					0.000151284	0.000166931	1	1	0
HEATR2	54919	broad.mit.edu	37	7	780575	780575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:780575G>T	ENST00000297440.6	+	3	920	c.900G>T	c.(898-900)gaG>gaT	p.E300D	HEATR2_ENST00000313147.5_Missense_Mutation_p.E300D|HEATR2_ENST00000438961.1_3'UTR	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	300							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGGTGCCTGAGGTCAGGTACG	0.597000													5	92					5.9392e-07	6.91975e-07	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149212524	149212524	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212524C>A	ENST00000309241.5	+	5	920	c.888C>A	c.(886-888)acC>acA	p.T296T	PPARGC1B_ENST00000403750.1_Silent_p.T232T|PPARGC1B_ENST00000360453.4_Silent_p.T257T|PPARGC1B_ENST00000394320.3_Silent_p.T296T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	296					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACATGCACACCTACTGCCTCC	0.667000													21	40					1.96895e-08	2.35655e-08	1	1	0
LRIT3	345193	broad.mit.edu	37	4	110791214	110791214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791214G>A	ENST00000327908.3	+	4	1524	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	LRIT3_ENST00000409621.2_Missense_Mutation_p.A254T|LRIT3_ENST00000594814.1_Missense_Mutation_p.A437T|LRIT3_ENST00000379920.3_Missense_Mutation_p.A392T			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	392	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TACCACCATGGCCAACAAGCG	0.468000													30	32					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444963	197444963	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444963G>A	ENST00000273582.5	-	0	469				KIAA0226_ENST00000296343.5_Missense_Mutation_p.T35M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T35M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T35M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACCCTCCACCGTCGTCTTCAA	0.512000													28	23					0	0	1	0	0
CCL4L1	9560	broad.mit.edu	37	17	34539909	34539909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34539909G>A	ENST00000588929.1	+	3	281	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	CCL4L1_ENST00000389068.5_Silent_p.K29K|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000444414.1_Missense_Mutation_p.V73I|CCL4L1_ENST00000378352.4_Missense_Mutation_p.V73I|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000358756.5_Silent_p.K34K|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000378350.4_3'UTR|CCL4L1_ENST00000591637.1_3'UTR	NM_001001435.2	NP_001001435.1			chemokine (C-C motif) ligand 4-like 1														Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCAAGCAAGTCTGCGCTGA	0.522000													4	51					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78183609	78183609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78183609C>A	ENST00000370793.1	-	18	2300	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	USP33_ENST00000357428.1_Missense_Mutation_p.A652S|USP33_ENST00000370792.3_Missense_Mutation_p.A644S|USP33_ENST00000370794.3_Missense_Mutation_p.A621S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	652					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATTTGAGCTGGACTATCC	0.363000													49	134					2.27781e-18	2.96919e-18	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16837804	16837804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16837804G>A	ENST00000355661.3	-	12	1884	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S625F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S625F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	625	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCACATGAGATGAGTTCTG	0.567000													9	19					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108163424	108163424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163424C>T	ENST00000278616.4	+	30	4900	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	ATM_ENST00000452508.2_Silent_p.A1505A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1505					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAGACAGCCGTGACTTACT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			79	127					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177747	91177747	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91177747C>A	ENST00000371795.4	+	2	1004	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.S216Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	264							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGAAAAAATTCCTGGAACAAA	0.433000													8	63					3.09899e-07	3.63227e-07	1	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678880	37678880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37678880G>A	ENST00000379800.3	-	1	923	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	172	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACGGTATGTGTTGCCTGGTC	0.458000													37	50					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104639572	104639572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104639572C>T	ENST00000315264.7	+	7	1640	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V	KIF26A_ENST00000423312.2_Missense_Mutation_p.A560V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	560	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGTGTGGGGCGCAGGTGCGC	0.701000													7	27					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082035	152082035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082035G>A	ENST00000368804.1	-	2	3657	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1220					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCACTGCGCTGATCCTCA	0.517000													42	36					0	0	1	0	0
INO80B	83444	broad.mit.edu	37	2	74683276	74683276	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74683276A>C	ENST00000233331.7	+	4	511	c.417A>C	c.(415-417)ggA>ggC	p.G139G	INO80B_ENST00000409917.1_Silent_p.G139G|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	139					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ACCTATCAGGAGGGTTAGGGG	0.517000													16	27					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139092254	139092254	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092254G>A	ENST00000333188.5	-	9	1076	c.894_splice	c.e9-1	p.L299_splice	COPB2_ENST00000507777.1_Splice_Site_p.L270_splice	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	299					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCCGACCAAGCTGAAAGAAA	0.408000													4	29					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161483700	161483700	+	Missense_Mutation	SNP	C	C	T	rs149146966		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161483700C>T	ENST00000271450.6	+	6	796	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.P252L|FCGR2A_ENST00000461298.1_5'UTR|FCGR2A_ENST00000467525.1_Intron	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	253						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCACTGATCCTGTGAAGGCT	0.488000													48	176					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559560	44559560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559560G>A	ENST00000332567.4	-	1	2428	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	692					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ctctgccaccgccgctgctgc	0.667000													4	46					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574068	28574068	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28574068C>T	ENST00000220562.4	+	3	1394	c.492C>T	c.(490-492)gaC>gaT	p.D164D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	164						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGAGAAGGACGATGCCGGCC	0.602000													12	29					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22047590	22047590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22047590A>G	ENST00000308271.9	-	14	2481	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	USP48_ENST00000400301.1_Silent_p.D611D|USP48_ENST00000374732.3_Silent_p.D149D|USP48_ENST00000529637.1_Silent_p.D610D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	611	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATCTTGCTCATCCAGCTGTT	0.438000													46	79					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9089802	9089802	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9089802G>A	ENST00000433083.2	+	12	2518	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R	PHC1_ENST00000544916.1_Silent_p.R836R|PHC1_ENST00000543824.1_Silent_p.R836R|PHC1_ENST00000536844.1_Silent_p.R442R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	836					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATCAGTTCCGGCTGAAGAGGA	0.502000													4	56					0	0	1	0	0
LPO	0	broad.mit.edu	37	17	56329583	56329583	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56329583G>A	ENST00000262290.4	+	8	1137	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	LPO_ENST00000543544.1_Missense_Mutation_p.C215Y|LPO_ENST00000421678.2_Missense_Mutation_p.C191Y|LPO_ENST00000582328.1_Missense_Mutation_p.C191Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	274					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAAGGGAAATGCATGCCTTTC	0.607000													17	23					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48679324	48679324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48679324G>A	ENST00000544264.1	-	33	9079	c.8799C>T	c.(8797-8799)tgC>tgT	p.C2933C	CELSR3_ENST00000164024.4_Silent_p.C2928C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2928					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCTGCTCGGCAGAGTGGCC	0.617000													4	3					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236129	21236129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21236129G>A	ENST00000233242.1	-	25	4246	c.4119C>T	c.(4117-4119)taC>taT	p.Y1373Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1373					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCCACCACTGTAGGAGGCGG	0.512000													8	190					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43310568	43310568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43310568G>A	ENST00000361428.2	-	7	3199	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A1041V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1041					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGGCTTTCGGCAGGCTTGGG	0.458000													29	43					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692000													32	24					0	0	1	0	0
RP11-551L14.1	0	broad.mit.edu	37	12	31269385	31269385	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31269385C>T	ENST00000542490.1	-	0	70																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						GGTAGGAGAACATTGTACTTA	0.358000													23	35					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31583084	31583084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31583084G>A	ENST00000326132.5	+	2	163	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RNF185_ENST00000266252.7_Missense_Mutation_p.A2T|RNF185_ENST00000426256.2_5'UTR	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	2						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GCCAAGGATGGCAAGCAAGGG	0.607000													38	67					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995471	4995471	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4995471C>A	ENST00000318833.3	+	2	1008	c.672C>A	c.(670-672)ccC>ccA	p.P224P		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAGACCCTATAAATGTG	0.383000													6	70					0.248553	0.25002	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176016106	176016106	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176016106C>T	ENST00000510636.1	+	22	3205	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	CDHR2_ENST00000506348.1_Silent_p.D977D|CDHR2_ENST00000261944.5_Silent_p.D977D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	977	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTAAGGACGGGGCCACCA	0.577000													84	146					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38164583	38164583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38164583C>T	ENST00000333167.8	-	12	1402	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACAA1_ENST00000301810.7_Silent_p.G317G|ACAA1_ENST00000450296.1_Silent_p.G369G|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	410					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATTCCAGTCCCGATGCACA	0.567000													16	26					0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966941	90966941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90966941G>A	ENST00000371852.2	-	1	130	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	37					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GGGAAGAAGGGCGACTGTAGG	0.647000													4	6					0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45974726	45974726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45974726C>T	ENST00000401061.4	+	4	968	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	230							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGCCCAACGATTGGCCCT	0.587000													4	95					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170129	63170129	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170129G>T	ENST00000399298.3	-	6	1426	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	353						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCCCGCAAAGGAATAGCCAG	0.582000													5	36					0.014758	0.0152625	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101566188	101566188	+	Missense_Mutation	SNP	G	G	A	rs141579296	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101566188G>A	ENST00000284395.5	+	18	2642	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LRRK1_ENST00000388948.3_Missense_Mutation_p.V751M			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	751	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAAACGCCGTGGTGCTGGT	0.587000													7	68					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50302934	50302934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50302934G>A	ENST00000354293.5	+	10	1349	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	AP2A1_ENST00000359032.5_Missense_Mutation_p.A395T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	395					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632000													17	41					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224353	55224353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55224353G>A	ENST00000371279.3	-	2	564	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	161					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGCCGTAATGGCTTCCTCGTG	0.532000													73	119					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499678	39499678	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39499678G>A	ENST00000263881.3	-	25	2124	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MAP4K3_ENST00000341681.5_Silent_p.F579F|MAP4K3_ENST00000536018.1_Silent_p.F153F|MAP4K3_ENST00000437545.1_Silent_p.F516F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	600	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTTCGAGGGAATAGCTGAT	0.303000													6	58					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545693	82545693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82545693G>T	ENST00000423517.2	-	7	11946	c.11609C>A	c.(11608-11610)cCa>cAa	p.P3870Q	PCLO_ENST00000437081.1_Missense_Mutation_p.P590Q|PCLO_ENST00000333891.8_Missense_Mutation_p.P3870Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3801	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTTTGTGGTGGTATAAA	0.478000													24	499					1.5548e-18	2.02858e-18	1	1	0
MIR492	0	broad.mit.edu	37	12	95228215	95228215	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228215A>T	ENST00000385303.1	+	0	42					NR_030171.1																						GACCTGCGGGACAAGATTCTT	0.532000													10	18					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567681	24567681	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24567681G>T	ENST00000319715.4	+	7	1019	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RBBP6_ENST00000348022.2_Missense_Mutation_p.R196I|RBBP6_ENST00000381039.3_Missense_Mutation_p.R196I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAATTCCCAGAAGTTTCATG	0.368000													22	33					2.89027e-11	3.59474e-11	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683316	140683316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140683316C>T	ENST00000239451.4	-	1	296	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	39					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGTCAGGGAACGTCTGCATCT	0.612000													4	58					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086375	53086375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53086375C>A	ENST00000341809.3	-	7	1285	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	KRT77_ENST00000537195.1_Missense_Mutation_p.Q186H	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	419	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGGAGGGCCTGCTCGCCTC	0.582000													14	31					3.45872e-05	3.88335e-05	1	1	0
PRKAA2	5563	broad.mit.edu	37	1	57170134	57170134	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57170134G>T	ENST00000371244.4	+	7	1345	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	427					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGCAGCTGGATTTTGAATG	0.373000													10	105					2.17888e-05	2.45068e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9024862	9024862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9024862G>A	ENST00000397910.4	-	16	37203	c.37000C>T	c.(37000-37002)Ccc>Tcc	p.P12334S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12336	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTGTAGGGGCCCAGCTCT	0.532000													70	80					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218780	8218780	+	Missense_Mutation	SNP	C	C	T	rs139047802		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8218780C>T	ENST00000361926.3	+	7	1419	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R437W	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	437	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCGCTCCCTGCGGCTGCTGAC	0.607000													8	126					0	0	1	0	0
FXR1	0	broad.mit.edu	37	3	180652995	180652995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180652995A>G	ENST00000357559.4	+	3	558	c.174A>G	c.(172-174)gaA>gaG	p.E58E	FXR1_ENST00000480918.1_Silent_p.E45E|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Silent_p.E58E	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	58					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAAAAAGAAATTAGTGAAG	0.303000													5	36					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16021243	16021243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16021243G>A	ENST00000268712.3	-	18	2271	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R672*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R563*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	672	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGTGTCGCCTTTTATAG	0.373000													8	66					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201187676	201187676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201187676C>T	ENST00000335211.4	+	18	9918	c.9788C>T	c.(9787-9789)gCg>gTg	p.A3263V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A423V	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACGGTGGCGGACGTGCGG	0.622000													14	16					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631045	56631045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56631045G>T	ENST00000266980.4	+	10	1693	c.1400G>T	c.(1399-1401)aGc>aTc	p.S467I	SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.S467I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	467					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGGGGCTCAGCCTGGGCCCT	0.647000													16	27					9.16793e-09	1.10245e-08	1	1	0
NACAP1	0	broad.mit.edu	37	8	102381656	102381656	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102381656G>A	ENST00000419462.1	+	0	1068					NR_002182.1																						CGATGAAACAGGTGTAGAAAT	0.423000													16	37					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46871725	46871725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46871725G>T	ENST00000243167.8	+	6	885	c.801G>T	c.(799-801)aaG>aaT	p.K267N	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	267					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGCCTGAAGGGCTGTGTCT	0.612000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	47					2.48779e-11	3.09936e-11	1	1	0
SUMF2	25870	broad.mit.edu	37	7	56145875	56145875	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56145875C>T	ENST00000434526.2	+	7	760	c.729C>T	c.(727-729)aaC>aaT	p.N243N	SUMF2_ENST00000395435.2_Silent_p.N159N|SUMF2_ENST00000342190.6_Silent_p.N243N|SUMF2_ENST00000413756.1_Silent_p.N224N|SUMF2_ENST00000275607.9_Silent_p.N136N|SUMF2_ENST00000437307.2_Silent_p.N155N|SUMF2_ENST00000395436.2_Silent_p.N228N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	224						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCAGAACAACTACGGTAAGA	0.567000													38	55					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68943596	68943596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68943596C>A	ENST00000456315.2	-	11	2286	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Q440H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	724					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAGCACTAATCTGCTTACAGT	0.348000													11	188					2.80697e-09	3.39963e-09	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90755214	90755214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90755214C>T	ENST00000354366.3	-	11	2737	c.2505G>A	c.(2503-2505)tcG>tcA	p.S835S	NRDE2_ENST00000357904.3_Silent_p.S604S	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TCACTTCTGGCGACAGCTCCA	0.542000													11	21					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652465	75652465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75652465G>T	ENST00000565683.1	-	14	1683	c.1672C>A	c.(1672-1674)Cta>Ata	p.L558I	MAN2C1_ENST00000569482.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000563622.1_Missense_Mutation_p.L459I|MAN2C1_ENST00000267978.5_Missense_Mutation_p.L558I	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	558					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGGTATAGGAACTGGGCA	0.622000													12	151					4.3838e-07	5.12524e-07	1	1	0
ITPKC	80271	broad.mit.edu	37	19	41223253	41223253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223253T>C	ENST00000263370.2	+	1	246	c.213T>C	c.(211-213)ccT>ccC	p.P71P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	71						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAGCGAGCCTGAGAGGGCCG	0.756000													5	9					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272404	53272404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53272404G>A	ENST00000566029.1	+	12	2992	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	CHD9_ENST00000447540.1_Missense_Mutation_p.R928H|CHD9_ENST00000398510.3_Missense_Mutation_p.R928H|CHD9_ENST00000564845.1_Missense_Mutation_p.R928H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R928H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAGAATTTCGTACGTGGACT	0.403000													52	93					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383804	109383804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109383804G>T	ENST00000283195.6	+	20	6935	c.6809G>T	c.(6808-6810)aGt>aTt	p.S2270I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2270					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAACTTCAGTTTTAAATCT	0.408000													91	170					1.04318e-46	1.40957e-46	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256975	63256975	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:63256975T>G	ENST00000323865.3	-	1	805	c.572A>C	c.(571-573)aAg>aCg	p.K191T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	191					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCATGATCCTTGCTAATGGT	0.572000													14	196					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271537	1271537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271537C>T	ENST00000447027.1	+	31	13494	c.13436C>T	c.(13435-13437)gCt>gTt	p.A4479V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4476V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4476	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGCAACTGCTGGCACCCCA	0.657000													36	55					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109673127	109673127	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109673127C>A	ENST00000338432.7	+	32	4476	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I	ACACB_ENST00000543201.1_Missense_Mutation_p.L119I|ACACB_ENST00000377848.3_Missense_Mutation_p.L1453I|ACACB_ENST00000377854.5_Missense_Mutation_p.L1383I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1453					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAAATATCCTTGTGGATTA	0.403000													6	78					0.0381472	0.0390147	1	1	0
ATRX	546	broad.mit.edu	37	X	76875919	76875919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76875919C>T	ENST00000373344.5	-	20	5430	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1701Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCCTTGATCGTATAGAATT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	51					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394333	47394333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47394333C>A	ENST00000362063.2	-	2	1073	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF652_ENST00000430262.2_Missense_Mutation_p.R252M	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTAAATACCCTGGGGCACTT	0.488000													5	70					0.014758	0.0152625	1	1	0
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149479958G>T	ENST00000378016.2	+	0	1924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652000													6	27					8.12818e-05	8.99451e-05	1	1	0
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6990511G>T	ENST00000381309.3	+	12	2338	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000536108.1_Silent_p.A410A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408000													16	15					1.15088e-07	1.35723e-07	1	1	0
ZSCAN16	80345	broad.mit.edu	37	6	28093347	28093347	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28093347A>G	ENST00000340487.4	+	2	275	c.126A>G	c.(124-126)caA>caG	p.Q42Q	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTATAGACAACACTTCAGGA	0.522000													15	255					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39763312	39763312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763312G>A	ENST00000564288.1	+	21	3153	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	MACF1_ENST00000545844.1_Silent_p.E797E|MACF1_ENST00000567887.1_Silent_p.E829E|MACF1_ENST00000372915.3_Silent_p.E797E|MACF1_ENST00000317713.7_Silent_p.E797E|MACF1_ENST00000361689.2_Silent_p.E797E|MACF1_ENST00000539005.1_Silent_p.E797E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	797					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCACGAGAGCTGGAGTCAT	0.418000													36	75					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793591	17793591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17793591G>A	ENST00000379472.3	+	2	980	c.950G>A	c.(949-951)cGc>cAc	p.R317H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R317H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	317						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R317H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTTCGTGCGCATCTTGCGC	0.647000													7	8					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140159722	140159722	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140159722T>C	ENST00000255977.2	-	3	553	c.329A>G	c.(328-330)aAa>aGa	p.K110R	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.K110R|MKRN1_ENST00000474576.1_Missense_Mutation_p.K46R	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	110							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TTTCAATGGTTTGCTATGTTC	0.448000													3	89					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574279	142574279	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142574279A>T	ENST00000359396.3	-	6	889	c.644T>A	c.(643-645)aTg>aAg	p.M215K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	215					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGTTGTACATCTGGCAGGC	0.562000													5	96					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96798360	96798360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96798360G>A	ENST00000342380.2	-	6	555	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	186					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCAGCACATGCATGAGCTCA	0.642000													13	99					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088531	94088531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94088531C>T	ENST00000553484.1	+	31	5172	c.5018C>T	c.(5017-5019)aCg>aTg	p.T1673M	UNC79_ENST00000393151.2_Missense_Mutation_p.T1651M|UNC79_ENST00000555664.1_Missense_Mutation_p.T1651M|UNC79_ENST00000256339.4_Missense_Mutation_p.T1474M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1651						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAAGAGGAGACGATGAACCAA	0.552000													24	38					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10628720	10628720	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10628720G>A	ENST00000254958.5	-	13	2123	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	JAG1_ENST00000423891.2_Silent_p.N377N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	536	EGF-like 9.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTGGGCACCGTTCTGGCAGG	0.517000									Alagille Syndrome				14	32					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961719	100961719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961719G>A	ENST00000375066.5	-	13	2789	c.2698C>T	c.(2698-2700)Cgc>Tgc	p.R900C	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R693C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R451C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	911						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ACAGCTCTGCGCCGGGATGCC	0.692000													18	118					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101937271	101937271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937271G>A	ENST00000434758.2	+	4	352	c.324G>A	c.(322-324)atG>atA	p.M108I	C11orf70_ENST00000526781.1_Missense_Mutation_p.M108I|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	108								p.M70I(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGCTTTCAATGTCATTTTTTC	0.284000													4	56					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31123215	31123215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31123215G>A	ENST00000394951.1	+	12	1584	c.961G>A	c.(961-963)Gct>Act	p.A321T	BCKDK_ENST00000394950.3_Missense_Mutation_p.A321T|BCKDK_ENST00000287507.3_Missense_Mutation_p.A291T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A321T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	321	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGGAGGAATCGCTCACAAAGA	0.567000													30	44					0	0	1	0	0
TRGC1	0	broad.mit.edu	37	7	38305111	38305111	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38305111G>A	ENST00000443402.2	-	0	168					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					CCCCTCCTGGGATCCCAGAAT	0.423000													151	130					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937928	33937928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937928G>T	ENST00000330120.3	+	1	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTTCAGCCAGGAGTATTTCC	0.602000													6	54					0.00116845	0.00124821	1	1	0
KCTD21	283219	broad.mit.edu	37	11	77885272	77885272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885272G>A	ENST00000340067.3	-	2	607	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602000													16	25					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162084	194162084	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194162084A>T	ENST00000439040.1	-	16	2457	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S556T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	556					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGATCACCAGAGAGCACTCCT	0.323000													8	67					0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514380	98514380	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:98514380A>G	ENST00000268042.6	+	8	1384	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D320G	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATCCTAGCGACGTAGAAGAG	0.383000													45	96					0	0	1	0	0
ARHGEF1	0	broad.mit.edu	37	19	42396804	42396804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396804G>A	ENST00000599846.1	+	7	623	c.498G>A	c.(496-498)acG>acA	p.T166T	ARHGEF1_ENST00000337665.4_Silent_p.T181T|ARHGEF1_ENST00000347545.4_Silent_p.T133T|ARHGEF1_ENST00000354532.3_Silent_p.T166T|ARHGEF1_ENST00000378152.4_Silent_p.T148T			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	166	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGGCATGACGCCCTGGGAGC	0.697000													13	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557334	152557334	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152557334T>C	ENST00000367255.5	-	110	20905	c.20304A>G	c.(20302-20304)caA>caG	p.Q6768Q	SYNE1_ENST00000341594.5_Silent_p.Q6380Q|SYNE1_ENST00000265368.4_Silent_p.Q6768Q|SYNE1_ENST00000448038.1_Silent_p.Q6697Q|SYNE1_ENST00000356820.4_Silent_p.Q1292Q|SYNE1_ENST00000423061.1_Silent_p.Q6697Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6768					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGATTTAGTTGGCTTTCTA	0.373000										HNSCC(10;0.0054)			8	121					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967912	88967912	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88967912G>A	ENST00000268679.4	-	2	700	c.304_splice	c.e2+1	p.H102_splice	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site_p.L102_splice|CBFA2T3_ENST00000360302.2_Splice_Site_p.L41_splice|CBFA2T3_ENST00000327483.5_Splice_Site_p.L41_splice	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCTACTTACGTGTGTGTGGC	0.682000			T	RUNX1	AML								17	17					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60060019	60060019	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60060019C>T	ENST00000397786.2	-	16	3421	c.3345G>A	c.(3343-3345)acG>acA	p.T1115T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCTTCCTGCGTTGGATCTG	0.378000													10	129					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69210696	69210696	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69210696C>T	ENST00000462284.1	+	4	581	c.279C>T	c.(277-279)ggC>ggT	p.G93G	MDM2_ENST00000393413.3_Intron|MDM2_ENST00000350057.5_Silent_p.G62G|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000258148.7_Silent_p.G93G|MDM2_ENST00000258149.5_Silent_p.G87G|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000544561.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	87	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTTGTTTGGCGTGCCAAGCT	0.363000			A		"""sarcoma, glioma, colorectal, other"""								16	23					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777428	79777428	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79777428A>G	ENST00000372371.3	-	10	1473	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	446					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTCACCATACTTGAGCTCT	0.443000													58	59					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967463	64967463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64967463C>T	ENST00000399262.2	-	10	4184	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	JMJD1C_ENST00000402544.1_Silent_p.Q1103Q|JMJD1C_ENST00000542921.1_Silent_p.Q1140Q|JMJD1C_ENST00000399251.1_Silent_p.Q1103Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1322					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGAAGCTAACTGCATTGCTG	0.438000													7	124					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195022730	195022730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022730G>A	ENST00000326793.6	-	14	1520	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	430	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ACAAGGTGATGCCCAGGTTGA	0.527000													59	73					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030954	32030954	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030954T>C	ENST00000360311.4	+	2	932	c.383T>C	c.(382-384)aTg>aCg	p.M128T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GAAGCAACTATGACACAAATC	0.383000													4	52					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6459619	6459619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6459619C>T	ENST00000265983.3	-	5	557	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	153					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGACATTCTCCACGGTGA	0.512000													7	157					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025491	91025491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025491C>T	ENST00000268182.5	+	28	3657	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1178	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCCCTGATGCTGGTGAGGAT	0.493000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39725524	39725524	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39725524G>A	ENST00000395670.3	-	22	3540	c.3121C>T	c.(3121-3123)Cta>Tta	p.L1041L	KIF21A_ENST00000544797.2_Silent_p.L1028L|KIF21A_ENST00000361961.3_Silent_p.L1028L|KIF21A_ENST00000361418.5_Silent_p.L1041L|KIF21A_ENST00000541463.2_Silent_p.L1005L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGATCTAGCAGGTATCGG	0.368000													7	104					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158641244C>A	ENST00000368148.3	-	12	1669		c.e12-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498000													12	30					5.50884e-06	6.28354e-06	1	1	0
PANK2	80025	broad.mit.edu	37	20	3888790	3888790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3888790G>A	ENST00000316562.4	+	2	852	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PANK2_ENST00000336066.3_Intron|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	282			L -> V (in NBIA1).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.L282L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGCAATCTGCACTTTATAC	0.498000													6	89					0	0	1	0	0
PTGES3L-AARSD1	0	broad.mit.edu	37	17	41131673	41131673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131673C>T	ENST00000421990.2	-	2	490	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A49T|PTGES3L_ENST00000409446.3_Intron|PTGES3L-AARSD1_ENST00000409103.1_5'UTR|PTGES3L-AARSD1_ENST00000360221.4_5'UTR|PTGES3L_ENST00000453594.1_Missense_Mutation_p.A49T	NM_001136042.2	NP_001129514.2																					AAGGTCCGGGCGTGCTGCCTG	0.542000													5	16					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420925	38420925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38420925G>A	ENST00000323571.4	+	5	737	c.497G>A	c.(496-498)aGc>aAc	p.S166N	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S166N|WIPF2_ENST00000583130.1_Missense_Mutation_p.S166N|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	166						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AATACCACCAGCAGTACGGGC	0.637000										HNSCC(43;0.11)			33	68					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34284379	34284379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34284379C>A	ENST00000374092.4	-	4	398	c.328G>T	c.(328-330)Gta>Tta	p.V110L	NFS1_ENST00000541387.1_Missense_Mutation_p.V110L|NFS1_ENST00000374085.1_Missense_Mutation_p.V50L|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000306750.3_Missense_Mutation_p.V110L|NFS1_ENST00000397425.1_Missense_Mutation_p.V50L	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	110					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGAGATGCTACTTGCTGCAAG	0.463000													24	74					3.5997e-14	4.58862e-14	1	1	0
NAPSA	9476	broad.mit.edu	37	19	50864365	50864365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864365G>A	ENST00000253719.2	-	5	709	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	167					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGCCTCCCCGAAAATCACTG	0.517000													19	96					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149963705	149963705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963705C>T	ENST00000370377.3	-	6	521	c.404G>A	c.(403-405)cGc>cAc	p.R135H	CD99L2_ENST00000355149.3_Missense_Mutation_p.R63H|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.R86H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	135					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTCCTGCGGCCATCATC	0.478000													61	135					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214576228	214576228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214576228G>A	ENST00000366956.5	-	6	773	c.579C>T	c.(577-579)caC>caT	p.H193H	PTPN14_ENST00000543945.1_Silent_p.H193H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	193	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTTACCTGTGGGCTTTGT	0.532000													16	150					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177571012	177571012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177571012G>A	ENST00000515098.1	+	8	948	c.597G>A	c.(595-597)ctG>ctA	p.L199L	RMND5B_ENST00000313386.4_Silent_p.L199L|RMND5B_ENST00000542098.1_Silent_p.L186L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	199	CTLH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCGACTGCACTTCATCC	0.632000													7	67					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20234222	20234222	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20234222G>A	ENST00000375120.3	+	8	1181	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	394										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTTCGCCGCTCTCAA	0.542000													15	17					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53040720	53040720	+	Missense_Mutation	SNP	C	C	T	rs148103071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53040720C>T	ENST00000309680.3	-	7	1294	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	425	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCGGCATCTGCGATGGCATCT	0.572000													32	44					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646755	122646755	+	Missense_Mutation	SNP	C	C	A	rs144152379	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122646755C>A	ENST00000195173.4	-	8	1035	c.732G>T	c.(730-732)caG>caT	p.Q244H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q298H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Q244H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	244	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGCTCCCCCTGGGAGGAGA	0.617000													4	55					2.56e-06	2.9446e-06	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95385337	95385337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95385337C>A	ENST00000371447.3	+	5	1008	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	290	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCCAGGAATTCTACGATGAAT	0.373000													6	42					8.12818e-05	8.99451e-05	1	1	0
COA3	28958	broad.mit.edu	37	17	40950138	40950138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40950138G>A	ENST00000328434.7	-	2	284	c.262C>T	c.(262-264)Cta>Tta	p.L88L		NM_001040431.1	NP_001035521.1			cytochrome c oxidase assembly factor 3																		TCGTCTTCTAGCTCATCTAGG	0.537000													10	44					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429453	110429453	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110429453C>T	ENST00000360185.4	-	2	329	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GIT2_ENST00000355312.3_Silent_p.P55P|GIT2_ENST00000361006.5_Silent_p.P55P|GIT2_ENST00000343646.5_Silent_p.P55P|GIT2_ENST00000547815.1_Silent_p.P55P|GIT2_ENST00000457474.2_Silent_p.P55P|GIT2_ENST00000338373.5_Silent_p.P55P|GIT2_ENST00000356259.4_Silent_p.P55P|GIT2_ENST00000551209.1_Silent_p.P55P|GIT2_ENST00000553118.1_Silent_p.P55P|GIT2_ENST00000354574.4_Silent_p.P55P|GIT2_ENST00000320063.9_Silent_p.P55P			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	55	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGAGGCCACGGTGTGTGTT	0.438000													8	55					0	0	1	0	0
STAG3L2	0	broad.mit.edu	37	7	74301237	74301237	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74301237G>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AATGCAGATAGCACGGATCTC	0.458000													21	346					1.38267e-23	1.83153e-23	1	1	0
CAMK1D	57118	broad.mit.edu	37	10	12867689	12867689	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12867689T>A	ENST00000378845.1	+	10	1125	c.1039T>A	c.(1039-1041)Tgt>Agt	p.C347S	CAMK1D_ENST00000378847.3_Splice_Site_p.C347_splice	NM_020397.2	NP_065130.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	347	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCAAAAAGACTGTGCGTATGT	0.552000													38	64					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2692619	2692619	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2692619T>G	ENST00000324666.5	+	13	2203	c.1852T>G	c.(1852-1854)Tct>Gct	p.S618A	FAM193A_ENST00000545951.1_Missense_Mutation_p.S618A|FAM193A_ENST00000505311.1_Missense_Mutation_p.S618A|FAM193A_ENST00000382839.3_Missense_Mutation_p.S618A|FAM193A_ENST00000502458.1_Missense_Mutation_p.S640A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	618										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCACGTCCTCTGTGTCCTG	0.458000													5	64					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342396	40342396	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40342396G>A	ENST00000406785.1	-	8	3000	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	SLC8A1_ENST00000403092.1_Silent_p.F973F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F937F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F968F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F965F|SLC8A1_ENST00000406391.2_Silent_p.F937F|SLC8A1_ENST00000405901.3_Silent_p.F968F|SLC8A1_ENST00000405269.1_Silent_p.F937F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F937F|SLC8A1_ENST00000332839.4_Silent_p.F973F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	973					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTCCTTTAGAAGCCTTTTA	0.383000													16	24					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611329	61611329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61611329G>T	ENST00000583023.1	+	5	769	c.758G>T	c.(757-759)aGc>aTc	p.S253I	KCNH6_ENST00000456941.2_Missense_Mutation_p.S253I|KCNH6_ENST00000580652.1_Missense_Mutation_p.S253I|KCNH6_ENST00000314672.5_Missense_Mutation_p.S253I|KCNH6_ENST00000581784.1_Missense_Mutation_p.S253I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	253					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTGCACTACAGCCCCTTCAAG	0.662000													12	92					1.08611e-07	1.2824e-07	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862287	31862287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31862287G>A	ENST00000382902.1	-	2	357	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.R89*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	89						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.R89*(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTGGCTCTCGCTCTGGCTGC	0.642000													21	28					0	0	1	0	0
GPR88	54112	broad.mit.edu	37	1	101005515	101005515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101005515C>T	ENST00000315033.4	+	2	1432	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	331						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TGTCCGCGCTCAATCCGCTGC	0.726000													8	13					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653746	121653746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121653746G>A	ENST00000393386.2	+	12	5057	c.4646G>A	c.(4645-4647)aGt>aAt	p.S1549N	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1549					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G1549E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGAAGAAAGTGGATCAGGG	0.433000													30	69					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26636744	26636744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26636744T>C	ENST00000381340.3	-	42	6315	c.5899A>G	c.(5899-5901)Acc>Gcc	p.T1967A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1967					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGGCCACCGGTTGTACTTCCA	0.473000													16	158					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14183116	14183116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14183116G>T	ENST00000306077.4	+	12	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	RP11-434D12.1_ENST00000601399.1_RNA	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	342						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577000													18	27					7.07596e-05	7.86387e-05	1	1	0
SHB	6461	broad.mit.edu	37	9	38068631	38068631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38068631C>T	ENST00000377707.3	-	1	577	c.12G>A	c.(10-12)tgG>tgA	p.W4*	SHB_ENST00000377700.4_Nonsense_Mutation_p.W4*|RP11-613M10.9_ENST00000540557.1_Nonsense_Mutation_p.W4*	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	4	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACTTGTTTAGCCACTTGGCCA	0.741000													5	7					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922061	37922061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37922061G>A	ENST00000346872.3	-	8	1573	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	IKZF3_ENST00000467757.1_Silent_p.H448H|IKZF3_ENST00000439167.2_Silent_p.H431H|IKZF3_ENST00000394189.2_Silent_p.H322H|IKZF3_ENST00000377944.3_Silent_p.H361H|IKZF3_ENST00000377952.2_Silent_p.H283H|IKZF3_ENST00000350532.3_Silent_p.H465H|IKZF3_ENST00000346243.3_Silent_p.H426H|IKZF3_ENST00000439016.2_Silent_p.H409H|IKZF3_ENST00000377945.3_Silent_p.H370H|IKZF3_ENST00000583368.1_Silent_p.H257H|IKZF3_ENST00000377958.2_Silent_p.H417H|IKZF3_ENST00000351680.3_Silent_p.H465H|IKZF3_ENST00000535189.1_Silent_p.H470H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	504					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGGGCTCTGTGTTCTCCTC	0.483000													10	71					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	898614	898614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:898614C>T	ENST00000338591.3	+	7	1275	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	390	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGGGAACCGGCTCTATGC	0.687000													9	10					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005816	30005816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30005816G>T	ENST00000279392.3	-	4	1480	c.650C>A	c.(649-651)aCt>aAt	p.T217N	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	217	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGCTTTTAGTTCCTTTATT	0.507000													87	125					2.36867e-37	3.19063e-37	1	1	0
DCST2	127579	broad.mit.edu	37	1	155003095	155003095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155003095G>A	ENST00000368424.3	-	6	890	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	DCST2_ENST00000295536.5_Missense_Mutation_p.R278C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	278						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTCCTGACGCACCCGGTTG	0.617000													10	37					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011861	68011861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68011861C>T	ENST00000268793.4	-	5	1184	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	246					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTTGTCAATCCGCTGACGTTG	0.542000													6	49					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180035977	180035977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180035977C>T	ENST00000261937.6	-	29	3962	c.3884G>A	c.(3883-3885)aGc>aAc	p.S1295N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1295N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1295N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1295					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGAAGCCGCTTTCTTGTCT	0.602000													25	54					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005843	187005843	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005843T>C	ENST00000296795.2	+	5	2635	c.2531T>C	c.(2530-2532)cTg>cCg	p.L844P	TLR3_ENST00000504367.1_Missense_Mutation_p.L567P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	844	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAACAAAATCTGGATTCCATT	0.338000													27	21					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30922521	30922521	+	Missense_Mutation	SNP	G	G	A	rs61761625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30922521G>A	ENST00000298139.5	+	5	695	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	149	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTTCTACGTGACTTTGAT	0.308000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				31	46					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5700874	5700874	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700874G>T	ENST00000360614.3	-	9	1589	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	LONP1_ENST00000590729.1_Missense_Mutation_p.L348M|LONP1_ENST00000585374.1_Missense_Mutation_p.L364M|LONP1_ENST00000593119.1_Missense_Mutation_p.L414M|LONP1_ENST00000540670.2_Missense_Mutation_p.L282M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	478					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCAGGTCCAGGTTCTCGTTG	0.602000													10	96					7.48243e-07	8.70085e-07	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088012	86088012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088012C>T	ENST00000330753.4	+	2	921	c.154C>T	c.(154-156)Cga>Tga	p.R52*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R52*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGTAATGAGCGAAGCTTGAC	0.512000													46	62					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70339947	70339947	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70339947T>C	ENST00000333646.6	+	4	679	c.480T>C	c.(478-480)atT>atC	p.I160I	MED12_ENST00000374102.1_Silent_p.I160I|MED12_ENST00000374080.3_Silent_p.I160I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	160					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGGCTCATTAAGATGACCT	0.478000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	83					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329299	18329299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18329299G>T	ENST00000355502.3	-	14	1946	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.L359M|PDE4C_ENST00000539010.1_Missense_Mutation_p.L128M|PDE4C_ENST00000447275.2_Missense_Mutation_p.L253M|PDE4C_ENST00000262805.11_Missense_Mutation_p.L327M|PDE4C_ENST00000594617.2_Missense_Mutation_p.L359M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	359					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCTTCAGCAGGTCCCGCTCC	0.582000													9	87					7.48243e-07	8.70085e-07	1	1	0
TNC	3371	broad.mit.edu	37	9	117819616	117819616	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117819616G>A	ENST00000350763.4	-	15	4806	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Silent_p.F1101F|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Silent_p.F1101F|TNC_ENST00000341037.4_Silent_p.F1374F|TNC_ENST00000535648.1_Silent_p.F1101F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1465	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TAAAGGTCTCGAAGATCCCAT	0.423000													78	136					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513292	78513292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513292T>C	ENST00000397909.2	+	15	3489	c.3316T>C	c.(3316-3318)Tca>Cca	p.S1106P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1106P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1106P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCGGGAAGTCAAATGCAGG	0.478000										HNSCC(70;0.22)			6	45					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36949365	36949365	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949365G>A	ENST00000373627.5	-	2	529	c.406_splice	c.e2+1	p.Y135_splice	MTCH1_ENST00000373616.5_Splice_Site_p.Y135_splice|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	135					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACACTCACCGTAGGTGAAGA	0.592000													11	14					0	0	1	0	0
ZNF121	7675	broad.mit.edu	37	19	9677073	9677073	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677073C>A	ENST00000586602.1	-	6	1132	c.716G>T	c.(715-717)aGg>aTg	p.R239M	ZNF121_ENST00000320451.6_Missense_Mutation_p.R239M			P58317	ZN121_HUMAN	zinc finger protein 121	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGATAAAACCTATTGTAGGC	0.428000													5	99					0.184627	0.186383	1	1	0
MOGAT3	346606	broad.mit.edu	37	7	100839654	100839654	+	Missense_Mutation	SNP	C	C	T	rs151326500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839654C>T	ENST00000223114.4	-	6	851	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.V229M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	229					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGGAGTACACGGGCACCAGG	0.587000													17	11					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377346	86377346	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86377346T>G	ENST00000604798.1	-	7	1454	c.250A>C	c.(250-252)Aat>Cat	p.N84H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.N113H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000552435.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.N84H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGTGACATTTATGGCTCCT	0.328000													11	112					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062575	170062575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170062575C>T	ENST00000263816.3	-	40	7799	c.7514G>A	c.(7513-7515)cGc>cAc	p.R2505H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTGGAACGCGGGCTATCAC	0.428000													38	53					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141264418	141264418	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141264418A>G	ENST00000389484.3	-	53	9439	c.8468T>C	c.(8467-8469)gTt>gCt	p.V2823A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2823	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTCACAAACAAATTGCTT	0.393000										TSP Lung(27;0.18)			8	148					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119672534	119672534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119672534C>T	ENST00000371322.5	-	13	1894	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	CUL4B_ENST00000404115.3_Missense_Mutation_p.M629I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M616I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	629					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGACAGCATTGATTTTT	0.378000													12	130					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082793	97082793	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97082793C>A	ENST00000335456.7	-	5	1085	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	NUTM2F_ENST00000253262.4_Missense_Mutation_p.K355N|NUTM2F_ENST00000341207.4_Missense_Mutation_p.K355N					NUT family member 2F									p.K236N(5)									GCAGGTGGGCCTTGGTCTCCG	0.706000													9	16					2.31682e-05	2.60394e-05	1	1	0
CEP85	64793	broad.mit.edu	37	1	26582026	26582026	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26582026G>A	ENST00000252992.4	+	4	704	c.573G>A	c.(571-573)tcG>tcA	p.S191S	CEP85_ENST00000451429.2_Silent_p.S140S	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	191						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAATCAGTCGGCAATGATGG	0.488000													28	47					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2920358	2920358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2920358G>A	ENST00000261596.4	-	20	2862	c.2624C>T	c.(2623-2625)cCg>cTg	p.P875L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	875					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTGAACTCCGGGCAGGGAAA	0.577000													3	33					0	0	1	0	0
PTPRB	0	broad.mit.edu	37	12	70989893	70989893	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70989893A>G	ENST00000334414.6	-	5	1238	c.1194T>C	c.(1192-1194)aaT>aaC	p.N398N	PTPRB_ENST00000538708.1_Silent_p.N180N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.N397N|PTPRB_ENST00000550857.1_Silent_p.N180N|PTPRB_ENST00000550358.1_Silent_p.N398N|PTPRB_ENST00000261266.5_Silent_p.N180N|PTPRB_ENST00000451516.2_Silent_p.N180N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	180	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATGGCAATATTGTATTTAC	0.333000													10	39					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89859062	89859062	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89859062C>A	ENST00000275072.4	+	2	639	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	182							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403000													16	139					2.23348e-06	2.57349e-06	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139887505	139887505	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139887505C>A	ENST00000297183.6	+	20	3811	c.3687C>A	c.(3685-3687)acC>acA	p.T1229T	ANKHD1_ENST00000360839.2_Silent_p.T1229T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1229T	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCTCACCCTGGCCTGTT	0.463000													7	61					0.27861	0.279982	1	1	0
CD93	22918	broad.mit.edu	37	20	23065850	23065850	+	Missense_Mutation	SNP	G	G	A	rs144280933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065850G>A	ENST00000246006.4	-	1	1127	c.980C>T	c.(979-981)aCg>aTg	p.T327M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	327	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGGCACGTGTAGTTTTT	0.627000													4	33					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122765688	122765688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122765688C>T	ENST00000245838.8	-	22	2363	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	THOC2_ENST00000491737.1_Missense_Mutation_p.V663M|THOC2_ENST00000355725.4_Missense_Mutation_p.V778M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	778					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAAACTGCACCAGGGTATCA	0.313000													60	113					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659519	206659519	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206659519T>A	ENST00000360409.3	+	17	3324	c.2533T>A	c.(2533-2535)Tca>Aca	p.S845T	NRP2_ENST00000357785.5_Missense_Mutation_p.S840T|NRP2_ENST00000540841.1_Missense_Mutation_p.S823T|NRP2_ENST00000412873.2_Missense_Mutation_p.S823T|NRP2_ENST00000540178.1_Missense_Mutation_p.S840T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	845					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTGCAACCTCAGGGTCTGG	0.527000													5	73					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122337707	122337707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122337707G>A	ENST00000544724.1	+	1	2531	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	PSMD9_ENST00000340175.5_Missense_Mutation_p.A137T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A137T|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000541212.1_Missense_Mutation_p.A137T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACGGGCCTTCGCCAAAGTGAA	0.642000													10	26					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55511019	55511019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55511019G>T	ENST00000395472.2	+	2	1592	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	SOCS4_ENST00000339298.2_Missense_Mutation_p.K420N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K420N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	420	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TATATCTGAAGGAATATCATT	0.348000													8	39					1.06961e-07	1.26574e-07	1	1	0
ABCA9	10350	broad.mit.edu	37	17	66982385	66982385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66982385G>A	ENST00000340001.4	-	32	4339	c.4128C>T	c.(4126-4128)aaC>aaT	p.N1376N	ABCA9_ENST00000453985.2_Silent_p.N1338N|ABCA9_ENST00000370732.2_Silent_p.N1376N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1376	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCACTGTCAGGTTGGGCCACA	0.577000													26	42					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452189	41452189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41452189C>T	ENST00000400454.1	-	25	4787	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1437	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTCCAAGCGATAGGAACG	0.478000													32	64					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922169	52922169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922169T>C	ENST00000281741.4	-	18	2086	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	572					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACTTGCAGCATATTTGGTTGA	0.433000													24	54					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338703	72338703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72338703C>A	ENST00000356056.5	-	2	674	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E68*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	68	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACCAAATTCCTTTACCTCT	0.423000													30	46					1.75199e-13	2.22232e-13	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66502059	66502059	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66502059T>C	ENST00000383703.3	-	3	894		c.e3-2		LRIG1_ENST00000273261.3_Splice_Site			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1							integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGAGGTACCTGTAACAACAA	0.418000													5	79					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64497763	64497763	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64497763T>C	ENST00000358025.3	+	45	7139	c.6909T>C	c.(6907-6909)gaT>gaC	p.D2303D	SYNE2_ENST00000344113.4_Silent_p.D2303D|SYNE2_ENST00000554584.1_Silent_p.D2303D|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTACAAGATGGCACATTAA	0.328000													15	62					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137242000	137242000	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137242000C>A	ENST00000508638.1	+	6	907	c.852C>A	c.(850-852)tcC>tcA	p.S284S	PKD2L2_ENST00000290431.5_Silent_p.S284S|PKD2L2_ENST00000508883.1_Silent_p.S284S|PKD2L2_ENST00000350250.4_Silent_p.S250S|PKD2L2_ENST00000502810.1_Silent_p.S284S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	284						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATTGCTTCCTGTGAAATCA	0.338000													31	61					2.65835e-16	3.4289e-16	1	1	0
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337709G>A	ENST00000394329.3	+	6	6963	c.6950G>A	c.(6949-6951)gGa>gAa	p.G2317E	FAT4_ENST00000335110.5_Missense_Mutation_p.G615E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413000													73	123					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909476	123909476	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123909476T>C	ENST00000330487.5	-	1	241	c.233A>G	c.(232-234)aAa>aGa	p.K78R		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATCAGCATTTTGGGCACCGT	0.542000													5	120					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157522	146157522	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146157522G>T	ENST00000276816.4	-	4	837	c.651C>A	c.(649-651)acC>acA	p.T217T	ZNF16_ENST00000394909.2_Silent_p.T217T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTCCTTGGAAGGTTTTCCCAC	0.488000													19	132					5.03518e-11	6.25324e-11	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196952198	196952198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196952198C>T	ENST00000367414.5	+	2	370	c.314C>T	c.(313-315)cCg>cTg	p.P105L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P81L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	81	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCACCAACACCGAAGTGTCTC	0.403000													6	66					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907503	60907503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60907503C>A	ENST00000252999.3	-	28	3543	c.3477G>T	c.(3475-3477)caG>caT	p.Q1159H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1159	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTGGTCCTGGGTATCCC	0.697000													4	49					0.00024832	0.0002712	1	1	0
ATE1	11101	broad.mit.edu	37	10	123658451	123658451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658451C>A	ENST00000369043.3	-	7	933	c.847G>T	c.(847-849)Gag>Tag	p.E283*	ATE1_ENST00000540606.1_Nonsense_Mutation_p.E276*|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000369040.3_Nonsense_Mutation_p.E187*	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	283					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACTTGAACTCTGGGTCCTCA	0.438000													9	50					7.48243e-07	8.70085e-07	1	1	0
ZDHHC18	84243	broad.mit.edu	37	1	27177723	27177723	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27177723G>A	ENST00000374142.3	+	6	1031		c.e6+1		ZDHHC18_ENST00000478902.1_Splice_Site	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18							integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TAATGAAGACGTGAGTAAACC	0.587000													19	27					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74516428	74516428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74516428G>A	ENST00000394009.3	+	8	939	c.816G>A	c.(814-816)aaG>aaA	p.K272K	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		TGTTGGTTAAGGAAAAGATTA	0.413000													10	24					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156411977	156411977	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156411977G>T	ENST00000461166.1	+	3	1674	c.1086_splice	c.e3+1	p.E362_splice	TIPARP_ENST00000542783.1_Splice_Site_p.E362_splice|TIPARP_ENST00000486483.1_Splice_Site_p.E362_splice|TIPARP_ENST00000295924.7_Splice_Site_p.E362_splice	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	362	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGTATCCCGAGGTATTTACAG	0.373000													6	99					3.59834e-05	4.01776e-05	1	1	0
ACTG1	71	broad.mit.edu	37	17	79478420	79478420	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79478420C>A	ENST00000575842.1	-	3	1022	c.596G>T	c.(595-597)aGc>aTc	p.S199I	ACTG1_ENST00000573283.1_Missense_Mutation_p.S199I|ACTG1_ENST00000575087.1_Missense_Mutation_p.S199I|ACTG1_ENST00000331925.2_Missense_Mutation_p.S199I			P63261	ACTG_HUMAN	actin, gamma 1	199					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTGGTGAAGCTGTAGCCTCG	0.642000													4	59					0.014758	0.0152625	1	1	0
PDE7A	5150	broad.mit.edu	37	8	66637059	66637059	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66637059C>A	ENST00000401827.3	-	10	1461	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	PDE7A_ENST00000379419.4_Missense_Mutation_p.G314C|PDE7A_ENST00000396642.3_Missense_Mutation_p.G340C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	340	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CATAAATCACCTCTATCCAAA	0.413000													7	94					1	1	1	1	0
GLIS1	148979	broad.mit.edu	37	1	54060032	54060032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54060032G>T	ENST00000312233.2	-	3	1110	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	182					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697000													4	6					0.00909568	0.00947522	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220497697	220497697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220497697G>A	ENST00000358055.3	+	9	1755	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	SLC4A3_ENST00000373760.2_Missense_Mutation_p.A415T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A415T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A442T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A442T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	415					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACAGGGCCAGCGTCCT	0.637000													16	23					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36936031	36936031	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36936031T>C	ENST00000262865.4	+	2	294	c.205T>C	c.(205-207)Tca>Cca	p.S69P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	69					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527000													27	55					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651776	8651776	+	Silent	SNP	G	G	A	rs141517207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651776G>A	ENST00000270328.4	-	18	2429	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ADAMTS10_ENST00000597188.1_Silent_p.Y721Y|ADAMTS10_ENST00000595838.1_Silent_p.Y208Y			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	721	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGACATCCTCGTACCCTGAAC	0.557000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	30					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734473	47734473	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47734473C>A	ENST00000371828.3	-	11	1612	c.1125G>T	c.(1123-1125)acG>acT	p.T375T	STAU1_ENST00000340954.7_Silent_p.T369T|STAU1_ENST00000347458.5_Silent_p.T369T|STAU1_ENST00000371856.2_Silent_p.T450T|STAU1_ENST00000371792.1_Silent_p.T367T|STAU1_ENST00000360426.4_Silent_p.T369T|STAU1_ENST00000371802.1_Silent_p.T375T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	450				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCAGTTACCGTGGCCTTGG	0.542000													11	93					2.80697e-09	3.39963e-09	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1475123	1475123	+	Missense_Mutation	SNP	C	C	A	rs149064100		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1475123C>A	ENST00000331035.4	+	7	975	c.626C>A	c.(625-627)aCt>aAt	p.T209N	IL3RA_ENST00000381469.2_Missense_Mutation_p.T131N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	209						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGATATTAACTCCACCCAAC	0.328000													7	101					0.27861	0.279982	1	1	0
DISP2	85455	broad.mit.edu	37	15	40661824	40661824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40661824C>T	ENST00000267889.3	+	8	3598	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1171					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGGCACGGCGTCGGAGCCC	0.652000													30	58					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153589697	153589697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153589697C>T	ENST00000422373.1	-	21	3434	c.3186G>A	c.(3184-3186)gtG>gtA	p.V1062V	FLNA_ENST00000344736.4_Silent_p.V1062V|FLNA_ENST00000360319.4_Silent_p.V1062V|FLNA_ENST00000369850.3_Silent_p.V1062V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1062					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGGGGCCACAGCTTCCA	0.622000													24	32					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441346	149441346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149441346C>T	ENST00000286301.3	-	12	1984	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	565					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCGTGGGGTCGATGAAAGTA	0.552000													43	75					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57865197	57865197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57865197C>A	ENST00000391705.3	+	3	422	c.138C>A	c.(136-138)aaC>aaA	p.N46K	ZNF304_ENST00000282286.5_Missense_Mutation_p.N46K|ZNF304_ENST00000443917.2_Missense_Mutation_p.N46K|ZNF304_ENST00000598744.1_Missense_Mutation_p.N4K	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCTGGAGAACTTTGCACTTG	0.438000													18	23					2.4624e-09	2.98951e-09	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49559304	49559304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:49559304C>T	ENST00000561648.1	-	6	3732	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	ZNF423_ENST00000262383.2_Missense_Mutation_p.G1227S|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1167S|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1167S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1227					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAAGGTGCCGCCCATGCCC	0.577000													11	25					0	0	1	0	0
LSM12	124801	broad.mit.edu	37	17	42113579	42113579	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42113579G>C	ENST00000591247.1	-	6	907	c.585C>G	c.(583-585)tcC>tcG	p.S195S	LSM12_ENST00000585388.1_3'UTR|LSM12_ENST00000293406.3_Silent_p.S195S	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	195							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TACGGACTCAGGATGACAGGG	0.542000													5	26					0	0	1	0	0
P2RY6	0	broad.mit.edu	37	11	73007793	73007793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007793G>A	ENST00000393590.2	+	2	529	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	P2RY6_ENST00000542092.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000349767.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000540342.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540124.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393592.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000393591.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000538328.1_Missense_Mutation_p.C77Y	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	77					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTATATGCCTGCTCCCTGCCC	0.597000													18	130					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410038	121410038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121410038G>T	ENST00000393667.3	-	14	8283	c.8173C>A	c.(8173-8175)Ctc>Atc	p.L2725I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2720I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2720					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGACCATGAGTAATTTCTGT	0.403000													24	285					2.27525e-19	2.97756e-19	1	1	0
FUT8	2530	broad.mit.edu	37	14	66028381	66028381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:66028381G>A	ENST00000360689.5	+	3	1827	c.100G>A	c.(100-102)Gac>Aac	p.D34N	FUT8_ENST00000394586.2_Missense_Mutation_p.D34N|FUT8_ENST00000394585.1_Missense_Mutation_p.D34N|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	34					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGAGATAATGACCATCCTGA	0.468000													57	62					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667852	25667852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25667852G>A	ENST00000382051.3	+	5	532	c.482G>A	c.(481-483)aGc>aAc	p.S161N	SLC34A2_ENST00000503434.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	161					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCTCCAGCACCTCAACG	0.547000			T	ROS1	NSCLC								33	54					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822821	97822821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822821C>A	ENST00000297293.5	+	11	3337	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1015					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTTAGGATCTCACACTCCC	0.587000													7	105					0.0293803	0.0301098	1	1	0
PDSS1	23590	broad.mit.edu	37	10	26998656	26998656	+	Silent	SNP	G	G	A	rs149274703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26998656G>A	ENST00000376215.5	+	5	479	c.426G>A	c.(424-426)gcG>gcA	p.A142A	PDSS1_ENST00000376203.5_Silent_p.A142A	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTATTGTGGCGCTAATGGCCC	0.398000													58	77					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776080	38776080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776080T>C	ENST00000308973.4	-	4	1737	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V	TLR10_ENST00000361424.2_Missense_Mutation_p.I378V|TLR10_ENST00000506111.1_Missense_Mutation_p.I378V|TLR10_ENST00000508334.1_Missense_Mutation_p.I378V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCATTCAAAATGAGAGTTTTC	0.333000													41	57					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829702	43829702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829702C>T	ENST00000319294.6	+	3	370	c.339C>T	c.(337-339)ctC>ctT	p.L113L	UBASH3A_ENST00000398367.1_Silent_p.L113L|UBASH3A_ENST00000291535.6_Silent_p.L113L|UBASH3A_ENST00000450356.1_Silent_p.L113L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	113						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGTGACACTCTGTGACTTCT	0.522000													4	61					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000345660.6_Missense_Mutation_p.A417T|GUSB_ENST00000421103.1_Missense_Mutation_p.A322T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572000													32	18					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111559	23111559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111559C>T	ENST00000400191.3	+	3	819	c.801C>T	c.(799-801)acC>acT	p.T267T	EPHB2_ENST00000374627.1_Silent_p.T261T|EPHB2_ENST00000544305.1_Silent_p.T267T|EPHB2_ENST00000374630.3_Silent_p.T267T|EPHB2_ENST00000374632.3_Silent_p.T267T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	267	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAATGGCACCGTCTGCCGAG	0.622000													22	37					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694910	109694910	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109694910C>A	ENST00000465301.2	+	3	1311	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	RGAG1_ENST00000540313.1_Silent_p.P355P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGGCCCTACCCTCTGGAGTGA	0.542000													44	346					1.8453e-21	2.42927e-21	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57134091	57134091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57134091C>T	ENST00000328070.6	+	3	1670	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCGCAACACGAACCTGACG	0.642000													9	20					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108102955	108102955	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102955C>A	ENST00000412830.3	+	13	1404	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	PWP1_ENST00000541166.1_Silent_p.I350I	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	412					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGTGAAGATCTGGGACATCT	0.398000													7	125					0.00198382	0.00210581	1	1	0
IGFBPL1	347252	broad.mit.edu	37	9	38411458	38411458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38411458G>A	ENST00000377694.1	-	4	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	259	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCTAGAACCGTCACTGTGCT	0.483000													19	21					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892160	74892160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74892160G>T	ENST00000241436.4	+	13	1814	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	POLK_ENST00000508526.1_Nonsense_Mutation_p.E350*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.E458*|POLK_ENST00000352007.5_Nonsense_Mutation_p.E350*|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	548					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTACATTAGAGAAAACTGA	0.383000								DNA polymerases (catalytic subunits)					5	40					0.000602214	0.000649039	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156757855	156757855	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156757855G>A	ENST00000537611.2	-	8	1267	c.1221C>T	c.(1219-1221)agC>agT	p.S407S		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	407						integral to membrane|plasma membrane											TGTATTTCCGGCTTTGATTCA	0.318000													36	41					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960023	73960023	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960023G>T	ENST00000373468.1	-	3	5020	c.4369C>A	c.(4369-4371)Ctg>Atg	p.L1457M	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1457M			Q5QGS0	K2022_HUMAN	KIAA2022	1457					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCTCTCAGGGCCTTGGAG	0.433000													4	100					0.150653	0.152692	1	1	0
UBR1	197131	broad.mit.edu	37	15	43330062	43330062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43330062A>G	ENST00000290650.4	-	17	2009	c.1931T>C	c.(1930-1932)gTa>gCa	p.V644A	UBR1_ENST00000382177.2_Missense_Mutation_p.V644A	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	644					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCCACTAGTACCTCTACTTG	0.418000													9	17					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039503	58039503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039503G>A	ENST00000299766.3	-	1	498	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	27					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGACTCACTGGCATTGCTGTG	0.532000													19	33					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137900	56137900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56137900C>T	ENST00000319441.4	+	4	719	c.555C>T	c.(553-555)ggC>ggT	p.G185G	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.G53G	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	185					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGCAGTGGGCGATGGGGAGT	0.502000													9	25					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19384429	19384429	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19384429C>A	ENST00000263208.5	-	7	791	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	HIRA_ENST00000546308.1_Missense_Mutation_p.G135W|HIRA_ENST00000541063.1_Missense_Mutation_p.G135W|HIRA_ENST00000340170.4_Missense_Mutation_p.G179W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	179					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATGTCAACCCTTTGACCAAG	0.488000													7	49					5.18039e-06	5.91835e-06	1	1	0
ZNF337	26152	broad.mit.edu	37	20	25655668	25655668	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25655668T>C	ENST00000376436.1	-	4	2795	c.2256A>G	c.(2254-2256)tgA>tgG	p.*752W	ZNF337_ENST00000538750.1_Nonstop_Mutation_p.*720W|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonstop_Mutation_p.*752W|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATATAACTTCAAGATGAAG	0.403000													7	45					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27206198	27206198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27206198C>A	ENST00000374135.4	-	5	1103	c.903G>T	c.(901-903)caG>caT	p.Q301H	GPN2_ENST00000374133.3_Missense_Mutation_p.Q122H	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	301							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTCCACTGACTGGTTCGAGG	0.587000													8	12					1.58986e-06	1.84011e-06	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103916958	103916958	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103916958C>T	ENST00000405356.1	+	3	424	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NOLC1_ENST00000605788.1_Silent_p.V63V|NOLC1_ENST00000488254.2_Silent_p.V64V|NOLC1_ENST00000603742.1_Intron			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	63					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGGTCCCAGAGCGAA	0.512000													32	54					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150514015	150514015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150514015G>A	ENST00000354546.5	-	8	746	c.519C>T	c.(517-519)agC>agT	p.S173S	ANXA6_ENST00000523714.1_Silent_p.S141S|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Silent_p.S173S|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	173						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCCTCGCTCACTACGT	0.562000													59	83					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911928	101911928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101911928G>A	ENST00000537097.1	+	6	3900	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T	GPRASP1_ENST00000415986.1_Silent_p.T1029T|GPRASP1_ENST00000361600.5_Silent_p.T1029T|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.T1029T	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1029	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCACGTGTTCAGTTG	0.557000													57	105					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907053	39907053	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39907053G>T	ENST00000425673.1	+	5	870	c.546_splice	c.e5+1	p.R182_splice	PLEKHG2_ENST00000458508.2_Splice_Site_p.R123_splice|PLEKHG2_ENST00000409794.3_Splice_Site_p.R182_splice|PLEKHG2_ENST00000409797.2_Splice_Site_p.R182_splice|PLEKHG2_ENST00000378550.1_Splice_Site_p.R182_splice			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	182	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGTGCAGAGGGTGAGTGGA	0.667000													13	76					2.27111e-07	2.66951e-07	1	1	0
ZNF776	284309	broad.mit.edu	37	19	58264658	58264658	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58264658G>T	ENST00000431353.1	+	3	395	c.177G>T	c.(175-177)taG>taT	p.*59Y	ZNF776_ENST00000317178.5_Splice_Site					zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATTTCTTTTAGGTTGTTGGTA	0.408000													10	106					0.000978159	0.00105116	1	1	0
MBD4	8930	broad.mit.edu	37	3	129156736	129156736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129156736C>T	ENST00000429544.2	-	2	357	c.162G>A	c.(160-162)atG>atA	p.M54I	MBD4_ENST00000503197.1_Missense_Mutation_p.M54I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000507208.1_Missense_Mutation_p.M54I|MBD4_ENST00000249910.1_Missense_Mutation_p.M54I|MBD4_ENST00000393278.2_Missense_Mutation_p.M54I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	54					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTATCATCATTTGTT	0.383000								Base excision repair (BER), DNA glycosylases					59	81					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61292446	61292446	+	Missense_Mutation	SNP	C	C	T	rs142725476		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61292446C>T	ENST00000217159.1	+	5	1245	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A347V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	347					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATGAGAGCGGCGGAAATGCAC	0.647000													24	43					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107137	168107137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107137A>G	ENST00000409195.1	+	9	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2904				E -> G (in Ref. 8; CAD91137).	actin cytoskeleton organization	cell junction	actin binding	p.T3079A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368000													11	66					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140250251	140250251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682000													5	97					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24247137	24247137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24247137C>T	ENST00000338315.4	+	13	1486	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MFSD2B_ENST00000406420.3_Missense_Mutation_p.R496W			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	496					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGAGCCTTCGGAGGTAAGC	0.652000													5	4					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17942691	17942691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17942691G>A	ENST00000361221.3	+	9	988	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V35I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V277I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	277					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGAAGGACGTCCTCGGTGA	0.637000													6	53					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661985	22661985	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22661985G>T	ENST00000426066.1	+	0	500					NR_027293.1																						TTCTTTTACAGATTGGTTTTG	0.323000													29	41					3.80469e-20	4.98859e-20	1	1	0
BRD3	8019	broad.mit.edu	37	9	136906967	136906967	+	Missense_Mutation	SNP	C	C	T	rs56017928	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136906967C>T	ENST00000303407.7	-	8	1507	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	BRD3_ENST00000357885.2_Missense_Mutation_p.R441H|BRD3_ENST00000371834.2_Missense_Mutation_p.R441H	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	441			R -> H (in dbSNP:rs56017928).			nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCACTGCTACGGCTGCTCTC	0.672000			T	C15orf55	lethal midline carcinoma of young people								5	18					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175896	120175896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175896G>T	ENST00000260264.4	+	7	642	c.608G>T	c.(607-609)aGg>aTg	p.R203M	POU2F3_ENST00000543440.2_Missense_Mutation_p.R201M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	201	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGCAGAGGCGCATTAAG	0.557000													7	79					5.18039e-06	5.91835e-06	1	1	0
EIF5B	9669	broad.mit.edu	37	2	100013244	100013244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100013244C>T	ENST00000289371.5	+	22	3478	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1092					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATTTCCCTGCAAGATAAAAA	0.408000													8	126					0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442595	442595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:442595C>T	ENST00000408966.2	-	1	663	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	115						extracellular region				large_intestine(1)|lung(2)	3						CGGCCCTCTGCAGCGCGGCCC	0.642000													5	48					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727510	50727510	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50727510T>A	ENST00000449103.1	-	4	1270	c.1130A>T	c.(1129-1131)gAc>gTc	p.D377V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D377V			O15031	PLXB2_HUMAN	plexin B2	377	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGAGCCCGTCGCGGCTGCC	0.672000													4	16					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873659	151873659	+	Missense_Mutation	SNP	G	G	A	rs142287778		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873659G>A	ENST00000355193.2	-	38	9097	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2960L					lysine (K)-specific methyltransferase 2C																		ACGGCCAGGCGGTGCTATGAA	0.498000													24	17					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101599426	101599426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101599426G>A	ENST00000375011.3	+	6	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	403						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCCCGTGCCCGCTTGGTGAGT	0.532000													48	60					0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11733671	11733671	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733671G>T	ENST00000376753.4	+	6	780		c.e6-1			NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6						DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCAACAGGTCTCCTACA	0.642000													7	71					2.7689e-08	3.31013e-08	1	1	0
ZNF101	94039	broad.mit.edu	37	19	19790898	19790898	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19790898A>C	ENST00000592502.1	+	4	1210	c.1100A>C	c.(1099-1101)gAa>gCa	p.E367A	ZNF101_ENST00000415784.2_Missense_Mutation_p.E247A			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E367V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAGCCATATGAATGTACAAGG	0.388000													3	55					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20160376	20160376	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20160376C>A	ENST00000345530.3	-	12	1343		c.e12-1		WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Splice_Site	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35											breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACAAACTGTGAACAAA	0.289000													12	27					4.93089e-13	6.23885e-13	1	1	0
RP1	6101	broad.mit.edu	37	8	55539476	55539476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55539476C>A	ENST00000220676.1	+	4	3182	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1012					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTGGATCTCTGAATGATGC	0.388000													84	183					2.99311e-26	3.98638e-26	1	1	0
ZNF529	57711	broad.mit.edu	37	19	37038801	37038801	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038801A>C	ENST00000334116.7	-	6	954	c.344T>G	c.(343-345)aTt>aGt	p.I115S	ZNF529_ENST00000591340.1_Missense_Mutation_p.I220S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACCAGTATGAATATTCAGTTG	0.294000													10	24					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78083763	78083763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78083763C>T	ENST00000302262.3	+	9	1565	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	GAA_ENST00000390015.3_Missense_Mutation_p.S449L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	449					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ATCAGCAGCTCGGGCCCTGCC	0.647000													28	44					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796882	93796882	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93796882G>T	ENST00000315765.9	+	3	632	c.624G>T	c.(622-624)aaG>aaT	p.K208N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	208					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTCTGCAAGGAAGGTAAGG	0.517000													4	85					0.000602214	0.000649039	1	1	0
SLC40A1	30061	broad.mit.edu	37	2	190428487	190428487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190428487G>A	ENST00000261024.2	-	7	1651	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	409					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACCTTGATCGGATATCTTCA	0.408000													28	38					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78591117	78591117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78591117C>A	ENST00000397909.2	+	35	6555	c.6382C>A	c.(6382-6384)Ctt>Att	p.L2128I	NAV3_ENST00000536525.2_Missense_Mutation_p.L2106I|NAV3_ENST00000228327.6_Missense_Mutation_p.L2106I|NAV3_ENST00000266692.7_Missense_Mutation_p.L1929I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2128						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L2106V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTGATAATCTTCATCATGT	0.333000										HNSCC(70;0.22)			17	31					9.16793e-09	1.10245e-08	1	1	0
FAM24B	196792	broad.mit.edu	37	10	124609946	124609946	+	Missense_Mutation	SNP	G	G	A	rs139313059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124609946G>A	ENST00000368898.3	-	3	376	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FAM24B_ENST00000462859.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.A29V|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	29						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TCACTTTAGCGCGTTGTGTAT	0.473000													22	31					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17212988	17212988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17212988T>C	ENST00000595618.1	+	2	613	c.461T>C	c.(460-462)cTc>cCc	p.L154P	MYO9B_ENST00000397274.2_Missense_Mutation_p.L154P|MYO9B_ENST00000594824.1_Missense_Mutation_p.L154P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	154	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGTGTAACCTCCCCGAGCTA	0.617000													24	43					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092276	56092276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56092276C>A	ENST00000257880.7	-	8	1434	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	ITGA7_ENST00000553804.1_Missense_Mutation_p.Q365H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Q268H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q365H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Q405H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q361H			Q13683	ITA7_HUMAN	integrin, alpha 7	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTGACCCCCCTGGTTCAAGT	0.607000													22	31					0.00229938	0.00244063	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78708951	78708951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78708951C>A	ENST00000436010.2	-	15	3207	c.2210G>T	c.(2209-2211)aGt>aTt	p.S737I	ROBO1_ENST00000495273.1_Missense_Mutation_p.S740I|ROBO1_ENST00000467549.1_Missense_Mutation_p.S740I|ROBO1_ENST00000464233.1_Missense_Mutation_p.S776I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	776	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTGGGGCACTGGGTGCTAT	0.383000													3	4					0.115264	0.117355	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7568366	7568366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568366C>T	ENST00000340209.4	+	2	557	c.260C>T	c.(259-261)gCt>gTt	p.A87V	RBFOX1_ENST00000422070.4_Missense_Mutation_p.A125V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A118V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A102V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A102V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A125V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A118V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A102V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A82V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	82					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACACGAGCGCTCAGACCGTC	0.657000													35	61					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49551717	49551717	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49551717T>A	ENST00000371582.4	-	10	847	c.816A>T	c.(814-816)gaA>gaT	p.E272D	DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.E240D|DPM1_ENST00000371588.5_Missense_Mutation_p.E245D			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	245					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAGATACTATTTCATTTCCTC	0.284000													6	85					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117626696	117626696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117626696C>T	ENST00000369466.3	+	11	2004	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	654	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCCCTGATCCATCATTGGAA	0.443000													8	93					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40825629	40825629	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40825629G>A	ENST00000396617.3	-	7	872	c.282C>T	c.(280-282)agC>agT	p.S94S	MKL1_ENST00000407029.1_Silent_p.S94S|MKL1_ENST00000355630.3_Silent_p.S94S|MKL1_ENST00000402630.1_Silent_p.S94S|MKL1_ENST00000402042.1_Silent_p.S94S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	94	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCCTTCAGGCTGGACTCAA	0.572000			T	RBM15	acute megakaryocytic leukemia								19	22					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57570895	57570895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57570895G>A	ENST00000243077.3	+	25	4529	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1355					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACTGGATTGCAGGCAACAT	0.582000													5	72					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55340771	55340771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55340771T>C	ENST00000371269.3	-	4	705	c.607A>G	c.(607-609)Act>Gct	p.T203A	DHCR24_ENST00000535035.1_Missense_Mutation_p.T162A|DHCR24_ENST00000537443.1_Missense_Mutation_p.T35A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	203	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTCACCGGAGTGCATCGCACA	0.567000													12	30					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106207489	106207489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106207489G>A	ENST00000369704.3	+	16	2424	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	764										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAAAGCACGTCTTGGCCCG	0.532000													29	25					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545871	10545871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545871G>A	ENST00000583535.1	-	16	1838	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	MYH3_ENST00000226209.7_Missense_Mutation_p.A584V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	584	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACGGTGCCCGCATAGTGGAT	0.537000													34	71					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578270	67578270	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67578270C>T	ENST00000540839.3	+	16	2946	c.2726C>T	c.(2725-2727)aCg>aTg	p.T909M	FAM65A_ENST00000042381.4_Missense_Mutation_p.T890M|FAM65A_ENST00000422602.2_Missense_Mutation_p.T910M|FAM65A_ENST00000428437.2_Missense_Mutation_p.T904M|FAM65A_ENST00000379312.3_Missense_Mutation_p.T894M			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCTCAGCACGGGGTGTCCA	0.642000													31	90					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25914215	25914215	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25914215A>G	ENST00000381736.3	+	16	1993	c.1743A>G	c.(1741-1743)ggA>ggG	p.G581G	NUPL1_ENST00000381718.3_Silent_p.G569G	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTGGAACAGGAGGACAACTCC	0.463000													4	102					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155449	100155449	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100155449T>C	ENST00000605497.1	+	7	1758	c.1633T>C	c.(1633-1635)Tgc>Cgc	p.C545R	PALMD_ENST00000263174.4_Intron			Q9NP74	PALMD_HUMAN	palmdelphin	0					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGACAAGGCATGCCACTGCTG	0.463000													22	49					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884446	36884446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884446G>A	ENST00000392161.3	-	5	1038	c.796C>T	c.(796-798)Cga>Tga	p.R266*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.R266*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTGTCCTCGTACCCTAAAA	0.433000													53	83					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132569618	132569618	+	Missense_Mutation	SNP	G	G	A	rs142420082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132569618G>A	ENST00000259339.2	+	3	677	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	206					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGTCTTACCGCAAAGCCATC	0.478000													43	68					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41886367G>A	ENST00000398393.1	-	17	1873	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	MPP3_ENST00000398389.4_Missense_Mutation_p.T513M			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	513	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408000													32	65					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75898153	75898153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75898153A>G	ENST00000322563.3	-	5	1145	c.1021T>C	c.(1021-1023)Tgc>Cgc	p.C341R		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	341					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACCTGCGGCAGGTGACGTAG	0.637000													19	34					0	0	1	0	0
ENPP2	0	broad.mit.edu	37	8	120612990	120612990	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120612990C>T	ENST00000427067.2	-	11	1068	c.887_splice	c.e11-1	p.R296_splice	ENPP2_ENST00000259486.6_Splice_Site_p.R300_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R300_splice|ENPP2_ENST00000522826.1_Splice_Site_p.R300_splice			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	300					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGACCGAAGGCCTATAAGAAA	0.378000													13	35					0	0	1	0	0
IL10	3586	broad.mit.edu	37	1	206944381	206944381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206944381C>T	ENST00000423557.1	-	3	307	c.249G>A	c.(247-249)ttG>ttA	p.L83L	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	83					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCTCAGACAAGGCTTGGC	0.562000													7	72					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367317	48367317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48367317C>T	ENST00000380518.3	-	54	4501	c.4337G>A	c.(4336-4338)gGc>gAc	p.G1446D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1377D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACAGTCTTGCCCCACTTACC	0.532000													17	35					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101585411	101585411	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101585411T>C	ENST00000310954.6	-	9	1837	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	517	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACTCCATCTCCACAGACAG	0.413000													6	43					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382049	41382049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382049C>A	ENST00000377801.3	-	2	765	c.691G>T	c.(691-693)Gca>Tca	p.A231S	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	231					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGATGGATGCTTGAAGAAAC	0.537000													27	31					2.44723e-14	3.12147e-14	1	1	0
GNPDA1	10007	broad.mit.edu	37	5	141382753	141382753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141382753C>T	ENST00000508177.1	-	5	1427	c.669G>A	c.(667-669)atG>atA	p.M223I	GNPDA1_ENST00000311337.6_Missense_Mutation_p.M223I|GNPDA1_ENST00000458112.2_Missense_Mutation_p.M189I|GNPDA1_ENST00000503794.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000542860.1_Missense_Mutation_p.M146I|GNPDA1_ENST00000513454.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000500692.2_Missense_Mutation_p.M223I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	223					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTCCACATGTGGTTCA	0.512000													4	37					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867591	29867591	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867591G>A	ENST00000399218.4	-	4	1024	c.969C>T	c.(967-969)gtC>gtT	p.V323V	GAREM_ENST00000269209.6_Silent_p.V323V|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GCCAGTGATGGACCAGGGTTT	0.527000													15	31					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56151049	56151049	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56151049G>T	ENST00000452681.2	-	7	714	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	PHKG1_ENST00000537360.1_Missense_Mutation_p.L103I|PHKG1_ENST00000297373.2_Missense_Mutation_p.L157I	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	157	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATCCAAGAGAATGTTCTCG	0.552000													17	46					2.35188e-11	2.93101e-11	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56487333	56487333	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56487333C>T	ENST00000267101.3	+	12	1919	c.1480_splice	c.e12+1	p.C493_splice	ERBB3_ENST00000415288.2_Splice_Site_p.C434_splice|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	493					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCAGAGACTGCGGTGAGGGAA	0.572000													4	49					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78444684	78444684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78444684C>T	ENST00000306773.4	-	5	1385	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	410	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGGGATTCAGCCCAGGCGATG	0.647000													15	45					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26063737	26063737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26063737G>A	ENST00000324198.5	+	6	665	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	158	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAAGCCTTCGAGGTGACATT	0.323000													5	39					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452612	2452612	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2452612G>T	ENST00000378466.3	-	3	362	c.350C>A	c.(349-351)aCc>aAc	p.T117N	PANK4_ENST00000435556.3_Missense_Mutation_p.T117N	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	117					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522000													10	103					2.32078e-09	2.82054e-09	1	1	0
CENPW	387103	broad.mit.edu	37	6	126667456	126667456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126667456G>A	ENST00000368328.4	+	2	332	c.232G>A	c.(232-234)Gca>Aca	p.A78T	CENPW_ENST00000368326.1_Silent_p.P64P|CENPW_ENST00000368325.1_Missense_Mutation_p.A93T			Q5EE01	CENPW_HUMAN	centromere protein W	78						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGTACTGGCCGCAGCAAAGGT	0.398000													5	52					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63177288	63177288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63177288G>A	ENST00000279178.3	+	10	1865	c.1616G>A	c.(1615-1617)aGa>aAa	p.R539K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	539					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGACCCCAGAGAACCAAAG	0.418000													11	18					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166226860	166226860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166226860C>T	ENST00000226725.6	+	9	1281	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	KLHL2_ENST00000538127.1_Missense_Mutation_p.S253F|KLHL2_ENST00000506761.1_Missense_Mutation_p.S175F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S244F|KLHL2_ENST00000514860.1_Missense_Mutation_p.S345F|KLHL2_ENST00000509028.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	341					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTGCCTTCCAGGAGGTGC	0.463000													37	73					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	573	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662000													7	8					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622549	18622549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622549C>A	ENST00000379989.3	+	13	1790	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S502Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	502					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAACCTTTCTGAAGCCAGG	0.537000													15	130					1.3612e-06	1.57881e-06	1	1	0
ADRA1A	148	broad.mit.edu	37	8	26623572	26623572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26623572C>T	ENST00000354550.4	-	3	1563	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGAGATCAGCATTCTGAACC	0.448000													9	82					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111958314	111958314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111958314A>G	ENST00000361822.3	+	5	672	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ZNF277_ENST00000450657.1_Silent_p.E181E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	181						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCAATGAAGAATTCCTTGGAA	0.328000													4	58					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909568	129909568	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129909568C>T	ENST00000222481.4	+	3	268	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	71					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGTTCCCTTCGTCAACGTCC	0.502000													7	79					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128394464	128394464	+	Missense_Mutation	SNP	G	G	A	rs147388270		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128394464G>A	ENST00000535623.1	+	4	1337	c.394G>A	c.(394-396)Gtt>Att	p.V132I	CALU_ENST00000479257.1_Missense_Mutation_p.V132I|CALU_ENST00000249364.4_Missense_Mutation_p.V124I|CALU_ENST00000535011.2_Missense_Mutation_p.V124I|CALU_ENST00000449187.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000542996.2_Intron	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	124	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						GGACGGCCTCGTTTCCTGGGA	0.502000													20	17					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20778740	20778740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20778740G>A	ENST00000404938.2	+	24	3654	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R556H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	556					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGACAGCCGCAGTCAAGAA	0.468000													11	10					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884797	117884797	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117884797A>G	ENST00000439649.3	-	5	1057	c.690T>C	c.(688-690)taT>taC	p.Y230Y	GFRA1_ENST00000369236.1_Silent_p.Y230Y|GFRA1_ENST00000355422.6_Silent_p.Y235Y|GFRA1_ENST00000544592.1_Silent_p.Y114Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	235					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCCTCTCTTCATAGGAGCACA	0.557000													10	46					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176518737	176518737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176518737C>T	ENST00000292408.4	+	6	900	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	FGFR4_ENST00000393648.2_Missense_Mutation_p.R219C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R219C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R219C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R219C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	219	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCCTCGGACCGCGGCACATA	0.637000										TSP Lung(9;0.080)			15	31					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160283846	160283846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160283846G>T	ENST00000241704.7	-	9	1005	c.776C>A	c.(775-777)cCt>cAt	p.P259H	COPA_ENST00000368069.3_Missense_Mutation_p.P259H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	259					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGGCGAGGGTGGAAGAC	0.463000													7	43					0.00307968	0.00325696	1	1	0
PHF12	57649	broad.mit.edu	37	17	27251052	27251052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27251052G>A	ENST00000577226.1	-	4	936	c.590C>T	c.(589-591)gCg>gTg	p.A197V	PHF12_ENST00000332830.4_Missense_Mutation_p.A197V|PHF12_ENST00000268756.3_Missense_Mutation_p.A197V|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	197	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTCTGGCTCCGCTGCTACTGG	0.582000													16	14					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246923291	246923291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246923291C>T	ENST00000366510.3	+	8	1222	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	282						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGGGAGGCATCACCTCTG	0.373000													71	78					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293146	33293146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293146C>T	ENST00000280979.4	+	13	6297	c.6127C>T	c.(6127-6129)Cca>Tca	p.P2043S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2043					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAACTGTGAGCCAGATGTTTT	0.408000													24	32					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455433	187455433	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187455433T>G	ENST00000307161.5	-	2	664	c.463A>C	c.(463-465)Acg>Ccg	p.T155P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCGCCAGCGTCAGGAGCCAT	0.597000													3	29					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052789	177052789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177052789C>T	ENST00000393643.2	+	7	1250	c.998C>T	c.(997-999)gCa>gTa	p.A333V	WDR17_ENST00000508596.1_Missense_Mutation_p.A333V|WDR17_ENST00000280190.4_Missense_Mutation_p.A357V|WDR17_ENST00000507824.2_Missense_Mutation_p.A340V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	357										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGAATCAAGCATTTTCTCTT	0.398000													76	143					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197326118	197326118	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197326118C>A	ENST00000367400.3	+	5	1281	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CRB1_ENST00000367399.2_Silent_p.V270V|CRB1_ENST00000543483.1_Silent_p.V81V|CRB1_ENST00000538660.1_Silent_p.V382V|CRB1_ENST00000535699.1_Silent_p.V313V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	382	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTTATGTCTGTATCTGTC	0.468000													10	62					2.80697e-09	3.39963e-09	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38105394	38105394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38105394T>C	ENST00000308059.6	+	6	1178	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.I386T|DLEC1_ENST00000346219.3_Missense_Mutation_p.I386T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	386					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTATGAAATTGGTCCAGTT	0.368000													9	108					0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458932	37458932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37458932C>T	ENST00000328376.5	+	5	1154	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	C3orf35_ENST00000426078.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000452017.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000425932.1_Nonsense_Mutation_p.Q59*	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATGGGCCTGCAGGGCAGTGC	0.453000													30	44					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105896980	105896980	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105896980G>A	ENST00000393359.2	-	6	1748	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A441V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	441					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTAGCCATTTGCTACCTCTGT	0.562000													23	34					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10543493G>T	ENST00000583535.1	-	22	2589	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	834					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458000													48	60					2.77807e-22	3.66633e-22	1	1	0
KIF23	9493	broad.mit.edu	37	15	69732275	69732275	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69732275T>C	ENST00000260363.4	+	16	1863	c.1746T>C	c.(1744-1746)taT>taC	p.Y582Y	KIF23_ENST00000352331.4_Silent_p.Y582Y|KIF23_ENST00000558585.1_Silent_p.Y399Y|KIF23_ENST00000537891.1_Silent_p.Y399Y|KIF23_ENST00000395392.2_Silent_p.Y582Y|KIF23_ENST00000559279.1_Silent_p.Y582Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	582					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACTATCTATGAGGAAGATA	0.358000													10	25					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008453	50008453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:50008453A>C	ENST00000451037.2	-	3	1116	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CA10_ENST00000285273.4_Missense_Mutation_p.L59R|CA10_ENST00000442502.2_Missense_Mutation_p.L59R|CA10_ENST00000340813.6_Missense_Mutation_p.L65R|CA10_ENST00000570565.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	59					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CACAGAGCAAAGATTCCAAGC	0.468000													14	117					0	0	1	0	0
OMD	4958	broad.mit.edu	37	9	95179567	95179567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95179567G>A	ENST00000375550.4	-	2	549	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	92					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGCTGAATGTGCATCGGAATA	0.383000			T	USP6	aneurysmal bone cysts								70	138					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62994230	62994230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62994230C>T	ENST00000561311.1	+	17	1966	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	TLN2_ENST00000306829.6_Missense_Mutation_p.A579V			Q9Y4G6	TLN2_HUMAN	talin 2	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGGGATGTGCGATCACCACT	0.537000													22	31					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77254148	77254148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77254148G>T	ENST00000341514.6	+	5	1665	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A504S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	504	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTCCTGTGTAGCAAACATTGA	0.408000													43	84					1.3203e-36	1.77731e-36	1	1	0
RNF135	84282	broad.mit.edu	37	17	29325990	29325990	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29325990G>T	ENST00000328381.5	+	5	1953	c.1080G>T	c.(1078-1080)tgG>tgT	p.W360C	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	360	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCTCTGCATGGCACATGGTCA	0.562000													18	37					1.40151e-16	1.80976e-16	1	1	0
NAT8L	339983	broad.mit.edu	37	4	2065625	2065625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2065625C>T	ENST00000423729.2	+	3	680	c.680C>T	c.(679-681)gCg>gTg	p.A227V	NAT8L_ENST00000331662.3_Missense_Mutation_p.A59V	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	227	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			ATCGCCAAGGCGCTGGGCCGG	0.662000													4	42					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751069	17751069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17751069G>T	ENST00000581396.1	-	14	1350	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	TOM1L2_ENST00000542206.1_Silent_p.A349A|TOM1L2_ENST00000318094.10_Silent_p.A423A|TOM1L2_ENST00000535933.1_Silent_p.A444A|TOM1L2_ENST00000540946.1_Silent_p.A350A|TOM1L2_ENST00000379504.3_Silent_p.A468A|TOM1L2_ENST00000395739.4_Silent_p.A423A|TOM1L2_ENST00000478943.1_Silent_p.A201A	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	468					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGCAGCTTTGGCTCTTTCTT	0.582000													7	66					0.000157383	0.00017284	1	1	0
MTSS1	9788	broad.mit.edu	37	8	125575091	125575091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125575091C>A	ENST00000518547.1	-	10	1440	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MTSS1_ENST00000395508.2_Nonsense_Mutation_p.G57*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.G123*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.G323*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.G213*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.G123*|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.G327*	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	323	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATATGAATCCTGAGTCATGG	0.622000													18	33					4.96729e-08	5.9048e-08	1	1	0
MRPL40	64976	broad.mit.edu	37	22	19423208	19423208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19423208C>T	ENST00000333130.3	+	4	997	c.344C>T	c.(343-345)gCt>gTt	p.A115V	HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000471259.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	115					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAGGAGAGCTCTGCTTCTG	0.532000													27	273					0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230861496	230861496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230861496A>G	ENST00000373652.3	+	4	563	c.142A>G	c.(142-144)Ata>Gta	p.I48V	FBXO36_ENST00000283946.3_Missense_Mutation_p.I79V|FBXO36_ENST00000409992.1_Intron			Q8NEA4	FBX36_HUMAN	F-box protein 36	79										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTGCAAGAATATTAGACTA	0.333000													53	73					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449532	155449532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155449532T>C	ENST00000368346.3	-	3	3768	c.3129A>G	c.(3127-3129)ggA>ggG	p.G1043G	ASH1L_ENST00000392403.3_Silent_p.G1043G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1043					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATAAATGGTTCCTTTCTTGC	0.398000													15	75					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39973393	39973393	+	Missense_Mutation	SNP	G	G	A	rs137853882		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39973393G>A	ENST00000321562.4	+	2	433	c.329G>A	c.(328-330)tGt>tAt	p.C110Y		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	110	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCATGTGTGTCAACGAG	0.662000													25	51					0	0	1	0	0
PCDHGA1	0	broad.mit.edu	37	5	140711020	140711020	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711020C>A	ENST00000517417.1	+	1	769	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L257M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTGCCGCTGGGTACTCA	0.493000													3	49					0.004672	0.0049138	1	1	0
ZNF157	7712	broad.mit.edu	37	X	47272259	47272259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272259A>C	ENST00000377073.3	+	4	873	c.787A>C	c.(787-789)Att>Ctt	p.I263L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCCTCACGATTCATCAGAG	0.433000													6	41					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43222908	43222908	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43222908G>A	ENST00000422911.1	-	24	3179	c.3078C>T	c.(3076-3078)ggC>ggT	p.G1026G	PRDM15_ENST00000447207.2_Silent_p.G969G|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000269844.3_Silent_p.G1335G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Silent_p.G1006G			P57071	PRD15_HUMAN	PR domain containing 15	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1335G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542000													68	108					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587000													18	30					0	0	1	0	0
ZNF703	80139	broad.mit.edu	37	8	37555577	37555577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37555577C>T	ENST00000331569.4	+	2	1387	c.1158C>T	c.(1156-1158)caC>caT	p.H386H		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	386	Gly-rich.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GAGGTTACCACGGCGCCTCGC	0.736000													5	4					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26383727	26383727	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26383727C>A	ENST00000374272.3	-	7	1084	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	316	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTCTGCTATGTGCTCT	0.532000													34	39					8.4185e-14	1.07063e-13	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15726009	15726009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726009G>A	ENST00000378076.3	-	4	915	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	188				R -> G (in Ref. 5; AAA93514).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACTGTTCCGGCAAGGAGAG	0.453000													27	47					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102642785	102642785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102642785G>A	ENST00000279441.4	-	9	1324	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAACTCCTGGAAAGTCATCA	0.393000													19	35					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972075	56972075	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56972075C>T	ENST00000591790.1	-	3	1571	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.R48Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R141Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R48Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GACCAGGTTCCGGTAATTCTC	0.502000													14	40					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39881125	39881125	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39881125G>A	ENST00000373186.4	-	5	830	c.693C>T	c.(691-693)gaC>gaT	p.D231D	MOCS1_ENST00000308559.7_Silent_p.D231D|MOCS1_ENST00000432280.2_Silent_p.D202D|MOCS1_ENST00000373188.2_Silent_p.D231D|MOCS1_ENST00000425303.2_Silent_p.D231D|MOCS1_ENST00000373195.3_Silent_p.D144D|MOCS1_ENST00000373175.4_Silent_p.D202D|MOCS1_ENST00000340692.5_Silent_p.D231D	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	231	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGCCGCAAAGTCCAGGAGTT	0.567000													19	13					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645772	113645772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113645772G>A	ENST00000546692.1	-	2	573	c.200C>T	c.(199-201)aCc>aTc	p.T67I	IQCD_ENST00000416617.2_Missense_Mutation_p.T67I|IQCD_ENST00000299732.2_Missense_Mutation_p.T67I			Q96DY2	IQCD_HUMAN	IQ motif containing D	67										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGACAGCAAGGTCACCAGCTC	0.537000													53	94					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132662789	132662789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132662789C>T	ENST00000420781.1	-	14	1657	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	FNBP1_ENST00000355681.3_Missense_Mutation_p.R460H|FNBP1_ENST00000446176.2_Missense_Mutation_p.R489H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000443566.2_Missense_Mutation_p.R117H			Q96RU3	FNBP1_HUMAN	formin binding protein 1	489	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTGCTCGCTGCGTGCTGGGAG	0.617000			T	MLL	AML								9	7					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809236	26809236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26809236A>G	ENST00000381340.3	-	19	2854	c.2438T>C	c.(2437-2439)aTt>aCt	p.I813T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	813					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATACTCATGAATTGTGATCTT	0.478000													6	60					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92754541	92754541	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92754541C>T	ENST00000370360.3	-	6	643	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	GLMN_ENST00000534881.1_Missense_Mutation_p.V188M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	188					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTCTTCCACAAAAGGCTTA	0.333000									Multiple Glomus Tumors (of the Skin), Familial				32	97					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55509911	55509911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55509911C>T	ENST00000395472.2	+	2	484	c.152C>T	c.(151-153)aCa>aTa	p.T51I	SOCS4_ENST00000339298.2_Missense_Mutation_p.T51I|SOCS4_ENST00000555846.1_Missense_Mutation_p.T51I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	51					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATGCTGAGACAGTGAATGGT	0.428000													5	80					0	0	1	0	0
ARHGEF1	0	broad.mit.edu	37	19	42396878	42396878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396878G>A	ENST00000599846.1	+	7	697	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R206Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R158Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R191Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R173Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	191	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGGGAGCGGCACGTGGCG	0.706000													6	13					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72199591	72199591	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72199591T>C	ENST00000337273.5	+	23	2996	c.2570T>C	c.(2569-2571)cTc>cCc	p.L857P	TNPO1_ENST00000506351.2_Missense_Mutation_p.L849P|TNPO1_ENST00000523768.1_Missense_Mutation_p.L807P|TNPO1_ENST00000454282.1_Missense_Mutation_p.L807P	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	857					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAGATGATCTCAGAGACATG	0.299000													39	76					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140165879	140165879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140165879G>A	ENST00000504120.2	+	1	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCAATGGTGTTTTCTAG	0.483000													48	87					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445254	62445254	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62445254T>A	ENST00000294119.2	-	6	664	c.534_splice	c.e6+1	p.K178_splice	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Splice_Site_p.K178_splice|UBXN1_ENST00000533000.1_Splice_Site_p.K36_splice|UBXN1_ENST00000529640.1_Splice_Site_p.K174_splice	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	178	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCACCTACCTTCTTGGCTCT	0.433000													46	75					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706483	15706483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15706483C>A	ENST00000396368.3	-	17	3611	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1135H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q737H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q970H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1134						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACACTCGGCACTGCTTTGCAA	0.443000													8	182					0.00621372	0.00652201	1	1	0
MR1	3140	broad.mit.edu	37	1	181018422	181018422	+	Missense_Mutation	SNP	G	G	A	rs145064363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181018422G>A	ENST00000367580.5	+	2	307	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MR1_ENST00000434571.2_Missense_Mutation_p.R101H|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R101H|MR1_ENST00000282990.6_Missense_Mutation_p.R101H	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	101	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAACTGAAGCGCCTACAGAGG	0.617000													12	13					0	0	1	0	0
KCMF1	56888	broad.mit.edu	37	2	85262220	85262220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85262220C>T	ENST00000409785.3	+	3	625	c.266C>T	c.(265-267)aCg>aTg	p.T89M		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	89						intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATGGGCTATACGGAGACATCT	0.378000													10	22					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96504510	96504510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96504510G>A	ENST00000283109.3	-	7	894	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RIOK2_ENST00000508447.1_Missense_Mutation_p.R276C|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	276	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGCTGAAACGTTTCATAAAG	0.323000													6	79					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71562252	71562252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71562252C>A	ENST00000370455.3	+	8	922	c.674C>A	c.(673-675)gCt>gAt	p.A225D	SMAP1_ENST00000316999.5_Missense_Mutation_p.A198D|SMAP1_ENST00000370452.3_Missense_Mutation_p.A198D	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	225					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GATGGCCCTGCTGTGGCACCA	0.398000													7	96					2.0095e-06	2.31757e-06	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739556	38739556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739556C>T	ENST00000449082.2	-	27	5154	c.5155G>A	c.(5155-5157)Gca>Aca	p.A1719T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1719					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATCACTGCAATGTACATG	0.512000													23	49					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9629871C>T	ENST00000382492.2	-	1	592	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413000													9	17					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22011708	22011708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22011708G>A	ENST00000306317.2	-	4	658	c.369C>T	c.(367-369)gaC>gaT	p.D123D	LGI3_ENST00000424267.2_Intron	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	123					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGCCCAGATGTCATTGTTCT	0.557000													20	41					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81588629G>A	ENST00000356860.3	-	38	3459	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.R253*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R1053*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1053						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358000													54	45					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78277319	78277319	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78277319C>A	ENST00000281038.5	-	4	748		c.e4-1		NARS2_ENST00000528850.1_Splice_Site	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGGGGAAATCCTGCCAATAAA	0.363000													28	32					4.59853e-10	5.63411e-10	1	1	0
PPP1R2P1	0	broad.mit.edu	37	6	32847441	32847441	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32847441C>T	ENST00000420261.1	-	0	184																											GTCTGCTGGACGATATGTCGC	0.468000													11	15					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714922	38714922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38714922C>A	ENST00000308742.4	+	3	1645	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	443					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTGAGTTGCTATGCAATTG	0.348000													74	119					1.08321e-29	1.45005e-29	1	1	0
RNF19A	25897	broad.mit.edu	37	8	101299988	101299988	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101299988G>C	ENST00000519449.1	-	3	731	c.415C>G	c.(415-417)Cat>Gat	p.H139D	RNF19A_ENST00000341084.2_Missense_Mutation_p.H139D	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	139					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTTTAGAATGCCGCAAAAGG	0.378000													35	99					0	0	1	0	0
PCDHGA6	0	broad.mit.edu	37	5	140753844	140753844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140753844G>A	ENST00000517434.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGAGTCCGCATCGTCTCC	0.592000													4	58					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487888	121487888	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121487888T>C	ENST00000296600.4	+	2	586	c.203T>C	c.(202-204)cTa>cCa	p.L68P	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACTGTGATACTATCAAAACTG	0.468000													16	162					0	0	1	0	0
LGALS8	3964	broad.mit.edu	37	1	236702296	236702296	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702296A>G	ENST00000526589.1	+	7	772	c.252A>G	c.(250-252)gaA>gaG	p.E84E	LGALS8_ENST00000416919.2_Silent_p.E84E|LGALS8_ENST00000323938.6_Silent_p.E57E|LGALS8_ENST00000526634.1_Silent_p.E84E|LGALS8_ENST00000527974.1_Silent_p.E84E|LGALS8_ENST00000341872.6_Silent_p.E84E|LGALS8_ENST00000525042.1_Silent_p.E84E|LGALS8_ENST00000450372.2_Silent_p.E84E|LGALS8_ENST00000366584.4_Silent_p.E84E|LGALS8_ENST00000352231.2_Silent_p.E84E			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	84	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGATAAATGAAAAATGGGGAC	0.438000													44	36					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35641674	35641674	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35641674C>T	ENST00000440995.2	+	3	303	c.303C>T	c.(301-303)taC>taT	p.Y101Y	SPEF2_ENST00000509059.1_Silent_p.Y101Y|SPEF2_ENST00000356031.3_Silent_p.Y101Y|SPEF2_ENST00000282469.6_Silent_p.Y101Y			Q9C093	SPEF2_HUMAN	sperm flagellar 2	101	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAATTGTACATTGCTCTTC	0.413000													33	42					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99710503	99710503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99710503G>A	ENST00000344095.4	-	6	1017	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TAF6_ENST00000472509.1_Silent_p.P221P|TAF6_ENST00000418432.2_Silent_p.P88P|TAF6_ENST00000452041.1_Silent_p.P164P|TAF6_ENST00000437822.2_Silent_p.P201P|TAF6_ENST00000453269.2_Silent_p.P164P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	164					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGACTTCAGGGGTTCTGTGG	0.582000													29	320					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941952	45941952	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45941952C>T	ENST00000323084.4	-	9	1445	c.1380G>A	c.(1378-1380)ccG>ccA	p.P460P	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.P392P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	460					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCGGGTTGCCGGGTTCCACT	0.622000													58	102					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24683347	24683347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24683347G>A	ENST00000396833.2	-	5	383	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	NEDD8-MDP1_ENST00000534348.1_Silent_p.C155C|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000288087.7_Silent_p.C138C|AL136419.6_ENST00000565988.1_RNA	NM_001199821.1	NP_001186750.1			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						GGATGTGAATGCAGGTAACAC	0.433000													12	102					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91551163	91551163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91551163C>T	ENST00000333371.3	-	7	788	c.435G>A	c.(433-435)ttG>ttA	p.L145L	VPS33B_ENST00000535906.1_Silent_p.L118L|VPS33B_ENST00000535843.1_Silent_p.L54L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	145					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAAGAGGCAGCAAAGAGAAGG	0.512000													37	53					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333561	70333561	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70333561C>A	ENST00000373644.4	+	2	1675	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	489					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTCATTACCTCCAGTAATG	0.448000													6	46					5.18039e-06	5.91835e-06	1	1	0
C1orf158	93190	broad.mit.edu	37	1	12806454	12806454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12806454G>A	ENST00000288048.5	+	1	292	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.V26M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	26										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACGAAAGTGCTCACTGG	0.488000													14	32					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707210	109707210	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707210A>G	ENST00000369939.3	+	3	547	c.364A>G	c.(364-366)Att>Gtt	p.I122V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.I122V	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	122					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGCACAGGCATTCGGTTTGA	0.577000													21	77					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532333	22532333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22532333C>T	ENST00000404369.4	-	4	1028	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	STEAP1B_ENST00000406890.2_Missense_Mutation_p.E186K	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	186						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGGCATCTTCTTTATTTTGT	0.403000													27	77					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622580	75622580	+	Silent	SNP	G	G	A	rs79714503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75622580G>A	ENST00000294638.5	+	9	1477	c.813G>A	c.(811-813)gtG>gtA	p.V271V	LHX8_ENST00000356261.3_Silent_p.V261V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGCTCAGGTGTGGTTTCAGA	0.483000													27	54					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8608505	8608505	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8608505G>A	ENST00000382480.2	+	6	1337	c.537G>A	c.(535-537)gcG>gcA	p.A179A	CPZ_ENST00000360986.4_Silent_p.A316A|CPZ_ENST00000315782.6_Silent_p.A305A|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	316					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGAACGCGCAGAACCTGG	0.662000													25	37					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34489941	34489941	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34489941C>T	ENST00000241052.4	+	11	1522	c.1434_splice	c.e11+1	p.A478_splice		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	478					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CAGAAGAAAGCGGTGAGTCTT	0.468000													37	49					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30780680	30780680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30780680G>T	ENST00000324685.6	+	16	2856	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	RNF40_ENST00000563683.1_Missense_Mutation_p.K767N|RNF40_ENST00000357890.5_Missense_Mutation_p.K707N|RNF40_ENST00000402121.3_Missense_Mutation_p.K499N|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	807					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGGAGAAGGATGAGTTGG	0.587000													8	80					0.0381472	0.0390147	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3886579	3886579	+	Missense_Mutation	SNP	C	C	T	rs150075361		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3886579C>T	ENST00000319331.3	+	2	1015	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	85						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAACATCGCAAAGACTGTG	0.448000													8	43					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784789	121784789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121784789C>A	ENST00000261819.3	-	3	428	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ANAPC5_ENST00000541887.1_Missense_Mutation_p.G103C|ANAPC5_ENST00000441917.2_Missense_Mutation_p.G4C|ANAPC5_ENST00000344395.4_Missense_Mutation_p.G4C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAACTCGCCTTCAGCCATC	0.368000													7	54					0.000442599	0.00048047	1	1	0
DDX52	11056	broad.mit.edu	37	17	35992283	35992283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35992283C>T	ENST00000349699.2	-	4	506	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DDX52_ENST00000394367.3_Missense_Mutation_p.D47N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	155						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCAGGAAGATCGGTTCCTTGG	0.388000													28	74					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600529	98600529	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98600529G>A	ENST00000326840.6	-	2	650	c.288C>T	c.(286-288)agC>agT	p.S96S	DCBLD2_ENST00000326857.9_Silent_p.S96S|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	96	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACAAACAGTGCTGTTGGGAT	0.413000													53	91					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899497	53899497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53899497G>A	ENST00000266987.2	+	8	1289	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TARBP2_ENST00000394357.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000552857.1_Silent_p.T135T	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	269	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GATTCTCTACGAAATTCAGTA	0.602000													58	120					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408000													4	20					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692442	189692442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189692442C>T	ENST00000319332.5	-	9	1554	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	453					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V453I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537000													14	27					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74914483	74914483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74914483G>A	ENST00000395066.3	+	4	1297	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CLK3_ENST00000352989.5_Missense_Mutation_p.R131H|CLK3_ENST00000345005.4_Missense_Mutation_p.R131H|CLK3_ENST00000348245.3_Intron	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	279						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGCAGTAAGCGCAGCAGCCGG	0.562000													12	28					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966493	41966493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966493C>T	ENST00000298919.7	+	10	1520	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.R380*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.R638*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGCAAGATTCGAAATCATGG	0.458000													22	25					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3697536	3697536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3697536G>A	ENST00000324932.7	-	33	5676	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.S1678S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1769					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGTTGAGTCGGAGGTTCTAT	0.562000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								38	66					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848098	49848098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49848098G>A	ENST00000333486.3	-	12	1477	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	440	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGGCACCAGCGCCCACCTG	0.612000													51	105					0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85721174	85721174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85721174G>T	ENST00000253462.3	-	2	197	c.97C>A	c.(97-99)Ctg>Atg	p.L33M		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	33					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AAAGGCCCCAGGTCCCCCTGC	0.473000													6	43					8.12818e-05	8.99451e-05	1	1	0
WDR11	55717	broad.mit.edu	37	10	122664854	122664854	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122664854A>G	ENST00000263461.6	+	26	3463	c.3217A>G	c.(3217-3219)Ata>Gta	p.I1073V	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1073						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTCTGCCTGATAGATAAGGC	0.498000													4	43					0	0	1	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761608	7761608	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7761608C>T	ENST00000332439.4	+	1	308	c.156C>T	c.(154-156)taC>taT	p.Y52Y	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR|CYB5D1_ENST00000571846.1_Silent_p.Y52Y|CYB5D1_ENST00000570446.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	52	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CACAGGAATACAAGGGTAAGG	0.602000											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	63					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145540576	145540576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145540576G>A	ENST00000332324.4	-	16	1524	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	417					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCTCACCAGGTACTGAGATG	0.642000													5	6					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58271516	58271516	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58271516C>T	ENST00000340635.6	-	14	2156	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	PDE4D_ENST00000317118.8_Missense_Mutation_p.D370N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D539N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D597N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D531N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D600N|PDE4D_ENST00000502484.2_Missense_Mutation_p.D600N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D525N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D359N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	661					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTGTGCTTGTCACACATGGGG	0.493000													3	30					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25249495	25249495	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25249495C>A	ENST00000276440.7	+	43	4483	c.4440_splice	c.e43+1	p.A1480_splice		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1480	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGAATTTGCTGTGAGTTCA	0.522000													11	8					1.58986e-06	1.84011e-06	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42489540	42489540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42489540G>T	ENST00000545399.1	-	7	834	c.681C>A	c.(679-681)ccC>ccA	p.P227P	ATP1A3_ENST00000543770.1_Silent_p.P225P|ATP1A3_ENST00000302102.5_Silent_p.P214P|ATP1A3_ENST00000602133.1_Silent_p.P184P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	214					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCGAGTCTGGGGCTCGGATT	0.592000													17	48					1.01871e-10	1.25892e-10	1	1	0
ANK1	286	broad.mit.edu	37	8	41559097	41559097	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41559097T>C	ENST00000396942.1	-	22	2515	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	ANK1_ENST00000347528.4_Missense_Mutation_p.D811G|ANK1_ENST00000379758.2_Missense_Mutation_p.D811G|ANK1_ENST00000396945.1_Missense_Mutation_p.D811G|ANK1_ENST00000352337.4_Missense_Mutation_p.D811G|ANK1_ENST00000265709.8_Missense_Mutation_p.D844G|ANK1_ENST00000289734.7_Missense_Mutation_p.D811G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	811	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGATCTCATCAACTGTCTC	0.493000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	83					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507088	71507088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71507088C>T	ENST00000359244.4	+	4	310	c.287C>T	c.(286-288)tCg>tTg	p.S96L	FAM86C1_ENST00000528685.1_Missense_Mutation_p.S62L|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S89L|FAM86C1_ENST00000346333.6_Missense_Mutation_p.S62L	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	96										lung(1)	1						CAGAAGCCATCGTGTCGCTGG	0.602000													35	53					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193921	100193921	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100193921G>A	ENST00000376387.4	+	9	1207	c.1017_splice	c.e9+1	p.T339_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	339					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGGACTCTACGGTAAGTGGAA	0.338000													3	84					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42701050	42701050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42701050G>A	ENST00000457842.3	+	2	1484	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ZBTB47_ENST00000232974.6_Silent_p.G401G|ZBTB47_ENST00000505904.1_Intron	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGCGGGGTGGGAAGAGGCCAA	0.706000													5	8					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940119	36940119	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940119G>A	ENST00000454319.1	-	5	1154	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	ZNF566_ENST00000424129.2_Silent_p.Y339Y|ZNF566_ENST00000392170.2_Silent_p.Y340Y|ZNF566_ENST00000493391.1_Silent_p.Y235Y|ZNF566_ENST00000434377.2_Silent_p.Y339Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCTTACATTCGTAAGGTTTCT	0.398000													16	27					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19741109	19741109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19741109G>A	ENST00000203556.4	-	21	2713	c.2576C>T	c.(2575-2577)aCa>aTa	p.T859I	GMIP_ENST00000445806.2_Missense_Mutation_p.T830I|GMIP_ENST00000587238.1_Missense_Mutation_p.T833I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	859					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGAGACTGTGTCCCCAGGAG	0.627000													17	29					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693505	55693505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55693505C>T	ENST00000376350.3	-	19	3099	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	PTPRH_ENST00000263434.5_Missense_Mutation_p.R848H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1026	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTTCCTGTGCGACCCACGCC	0.597000													15	51					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94496601	94496601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94496601C>T	ENST00000370225.3	-	28	4290	c.4204G>A	c.(4204-4206)Gct>Act	p.A1402T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1402					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGGTCAAAGCGGGGTATTCG	0.532000													14	26					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11856453	11856453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11856453T>C	ENST00000376592.1	-	4	718	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	MTHFR_ENST00000376583.3_Missense_Mutation_p.Y238C|MTHFR_ENST00000376585.1_Missense_Mutation_p.Y238C|MTHFR_ENST00000376590.3_Missense_Mutation_p.Y197C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	197					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCCTTTGGGGTAACCTGCCAA	0.572000													9	128					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414375	213414375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213414375A>G	ENST00000366960.3	+	11	1706	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Y222C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Y307C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Y507C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	519					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAATGAATATGGGCAAGAA	0.403000													4	42					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067501	62067501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62067501C>T	ENST00000404929.1	-	3	649	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FAM161A_ENST00000405894.3_Missense_Mutation_p.R213H	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	213					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCTTTACAGCGAATATAATC	0.388000													10	126					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382733	15382733	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15382733G>A	ENST00000376030.2	+	5	1167	c.873G>A	c.(871-873)caG>caA	p.Q291Q	KAZN_ENST00000503743.1_Silent_p.Q291Q|KAZN_ENST00000400797.3_Silent_p.Q197Q|KAZN_ENST00000361144.5_Silent_p.Q285Q|KAZN_ENST00000422387.2_Silent_p.Q291Q|KAZN_ENST00000400798.2_Silent_p.Q197Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	291	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGAGTCAACAGACTCTCTACC	0.667000													12	20					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171675163	171675163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171675163C>T	ENST00000358196.3	+	2	612	c.62C>T	c.(61-63)aCc>aTc	p.T21I	GAD1_ENST00000344257.5_Missense_Mutation_p.T21I|GAD1_ENST00000375272.1_Missense_Mutation_p.T21I|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	21					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACCCCAATACCACTAACCTG	0.627000													19	51					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832132	5832132	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832132G>A	ENST00000318336.4	-	3	1641	c.447C>T	c.(445-447)gaC>gaT	p.D149D	FUT6_ENST00000527106.1_Silent_p.D149D|FUT6_ENST00000592563.1_Silent_p.D149D|FUT6_ENST00000524754.1_Silent_p.D149D|FUT6_ENST00000286955.5_Silent_p.D149D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	149					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGTATCCGTCCATGGCTT	0.657000													16	25					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236649637	236649637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236649637A>G	ENST00000409538.1	+	4	1632	c.1136A>G	c.(1135-1137)gAt>gGt	p.D379G	AGAP1_ENST00000409457.1_Missense_Mutation_p.D114G|AGAP1_ENST00000304032.7_Missense_Mutation_p.D114G|AGAP1_ENST00000336665.5_Missense_Mutation_p.D114G			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	114	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTGTCGTTGATGGACAGAGC	0.527000													6	45					0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170817090	170817090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170817090A>G	ENST00000296930.5	+	2	395	c.94A>G	c.(94-96)Aag>Gag	p.K32E	NPM1_ENST00000517671.1_Missense_Mutation_p.K32E|NPM1_ENST00000393820.2_Missense_Mutation_p.K32E|NPM1_ENST00000351986.6_Missense_Mutation_p.K32E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	32	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTATCACTTTAAGGTGGATAA	0.328000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								17	22					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820605	10820605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10820605T>C	ENST00000526148.1	-	21	3102	c.2592A>G	c.(2590-2592)gaA>gaG	p.E864E	EIF4G2_ENST00000525681.1_Silent_p.E864E|EIF4G2_ENST00000396525.2_Silent_p.E826E|EIF4G2_ENST00000339995.5_Silent_p.E864E|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	864	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAGAAAGCTTCTTCTTCAA	0.328000													62	77					0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17492298	17492298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17492298C>A	ENST00000281243.5	-	6	795	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	QDPR_ENST00000428702.2_Nonsense_Mutation_p.E175*|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000508623.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	206					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACTAGGAATTCTAAGGGTGTC	0.507000													7	17					0.0381472	0.0390147	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78073542	78073542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78073542G>A	ENST00000397545.4	+	20	3424	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1133					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGATGATCGCCAACAAGCT	0.617000													7	17					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640976	51640976	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640976T>C	ENST00000375695.2	+	8	1973	c.1820T>C	c.(1819-1821)cTg>cCg	p.L607P	MAGED1_ENST00000375722.1_Missense_Mutation_p.L551P|MAGED1_ENST00000375772.3_Missense_Mutation_p.L551P|MAGED1_ENST00000326587.7_Missense_Mutation_p.L551P|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	551	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCTGGCATACTGGGAACGTAA	0.463000										Multiple Myeloma(10;0.10)			8	11					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797698	41797698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797698A>C	ENST00000263800.6	-	14	1824	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	LTK_ENST00000561619.1_Missense_Mutation_p.C274W|LTK_ENST00000453182.2_Missense_Mutation_p.C446W|LTK_ENST00000355166.5_Missense_Mutation_p.C515W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	576	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGAGCCCCACACACCGCACAA	0.577000										TSP Lung(18;0.14)			6	23					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793148	28793148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28793148C>T	ENST00000373839.3	+	6	953	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P241L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	231	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGCACCCAGGACTCTG	0.577000													11	17					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640145	58640145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640145C>A	ENST00000598312.1	-	4	959	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZNF329_ENST00000358067.4_Missense_Mutation_p.K242N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGTTGTAGTTCTTGGAGAAGG	0.448000													61	84					1.80625e-27	2.41067e-27	1	1	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	57					5.3912e-06	6.15692e-06	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179238699	179238699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179238699C>A	ENST00000190611.4	+	15	1854	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	OSBPL6_ENST00000315022.2_Missense_Mutation_p.S497Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S462Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S518Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S457Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S457Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S426Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	493					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGTCTGTTTCTGAGTTCTTT	0.498000													27	43					6.07407e-21	7.98272e-21	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1235548	1235548	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1235548A>G	ENST00000354700.5	-	7	759	c.557T>C	c.(556-558)aTc>aCc	p.I186T	ACAP3_ENST00000353662.3_Missense_Mutation_p.I144T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	186					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGTCCAGGATCTCAAACTT	0.652000													9	24					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154156921	154156921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154156921C>T	ENST00000360256.4	-	14	5344	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATAGTGTCGTGTTTTCTT	0.398000													5	57					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237025635	237025635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237025635G>T	ENST00000366577.5	+	21	2690	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	MTR_ENST00000535889.1_Nonsense_Mutation_p.E715*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	766					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGCACAGTAGAAGAAGAGGC	0.493000													6	93					0.00116845	0.00124821	1	1	0
FGFR1	2260	broad.mit.edu	37	8	38285863	38285863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38285863C>T	ENST00000447712.2	-	4	1390		c.e4+1		FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000335922.5_Splice_Site|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000532791.1_Splice_Site	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGTGTCTCACGCATACGGTT	0.512000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						13	28					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72278787	72278787	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72278787T>C	ENST00000550746.1	+	5	604	c.540T>C	c.(538-540)taT>taC	p.Y180Y	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Silent_p.Y188Y|TBC1D15_ENST00000485960.2_Silent_p.Y180Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	180							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGAAAAATATGTGGTATTGT	0.353000													5	66					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945321	32945321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32945321G>A	ENST00000395289.2	+	8	2904	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	BRD2_ENST00000374831.4_Missense_Mutation_p.V435I|BRD2_ENST00000449085.2_Missense_Mutation_p.V388I|BRD2_ENST00000395287.1_Missense_Mutation_p.V435I|BRD2_ENST00000443797.2_Missense_Mutation_p.V315I|BRD2_ENST00000374825.4_Missense_Mutation_p.V435I			P25440	BRD2_HUMAN	bromodomain containing 2	435	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGATCACGATGTTGTGGCAAT	0.458000													59	90					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105542	14105542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14105542C>T	ENST00000235372.7	+	8	2108	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	PRDM2_ENST00000343137.4_Missense_Mutation_p.R217W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R418W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R217W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	418						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGGTTAAAGCGGAAACCCAG	0.512000													14	25					0	0	1	0	0
PCGF6	84108	broad.mit.edu	37	10	105086326	105086326	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105086326G>T	ENST00000369847.3	-	8	941	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L217I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	292					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTTCTTCTGAGGAATTTTTCT	0.348000													9	64					1.76689e-08	2.11513e-08	1	1	0
MBD5	0	broad.mit.edu	37	2	149227755	149227755	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149227755T>C	ENST00000407073.1	+	9	3240	c.2243T>C	c.(2242-2244)gTt>gCt	p.V748A	MBD5_ENST00000404807.1_Missense_Mutation_p.V748A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	748						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTCTAGTGTTCTTCAGAAC	0.473000													19	28					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128692974	128692974	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128692974T>C	ENST00000371113.4	+	8	883	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	OCRL_ENST00000357121.5_Missense_Mutation_p.F240L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CATTCAGACTTTCAGGTTAGT	0.398000													9	99					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584474	33584474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33584474G>A	ENST00000262873.7	+	28	3397	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1060						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGGCCAAGCGCAAGCTGGAG	0.617000													8	20					0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343849	113343849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343849C>T	ENST00000409719.1	+	3	269	c.216C>T	c.(214-216)aaC>aaT	p.N72N	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Silent_p.N72N			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	72	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCGACAGAACGAGGCAGCTG	0.622000													22	31					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910430	139910430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139910430G>A	ENST00000265662.5	-	22	3448	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1101C|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1100C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1100	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCTCTCTGCGGATCTCCTCC	0.662000													15	14					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89936622	89936622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89936622G>A	ENST00000378247.3	+	15	2130	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	696					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCACGACGCAGTCGCCAG	0.607000													4	7					0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123943691	123943691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123943691C>A	ENST00000373840.4	-	8	868	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	211					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACAGCCTTCTCTCTGGGGT	0.532000													6	54					3.59834e-05	4.01776e-05	1	1	0
C16orf87	388272	broad.mit.edu	37	16	46836914	46836914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46836914C>T	ENST00000394806.2	-	3	244	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	C16orf87_ENST00000285697.4_Missense_Mutation_p.A139T|C16orf87_ENST00000564250.1_Intron			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	139										large_intestine(4)|urinary_tract(1)	5						TCTGCCAAGGCGACTGAAAAC	0.328000													22	28					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46231168	46231168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46231168T>C	ENST00000334344.6	+	9	1260	c.1088T>C	c.(1087-1089)cTa>cCa	p.L363P	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L214P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAAAATGTCTAATGTCAAGG	0.303000			"""N, S, F"""		hepatocellular carcinoma								10	82					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99479116	99479116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99479116G>A	ENST00000376460.1	-	44	5002	c.4922C>T	c.(4921-4923)aCa>aTa	p.T1641I	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1642I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1642	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTAGGGCTGTTACGTGGAC	0.393000													9	9					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464876	120464876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120464876C>A	ENST00000256646.2	-	28	5415	c.5196G>T	c.(5194-5196)caG>caT	p.Q1732H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1732					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCATCCTGTCCCACTG	0.468000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	39					5.18039e-06	5.91835e-06	1	1	0
LYPD4	147719	broad.mit.edu	37	19	42341267	42341267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42341267C>A	ENST00000330743.3	-	5	1902	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	LYPD4_ENST00000343055.4_Missense_Mutation_p.D196Y|LYPD4_ENST00000601246.1_Missense_Mutation_p.D196Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	231						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGCAGGATCTTGCCTGGAG	0.478000													9	99					1.76689e-08	2.11513e-08	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059357	79059357	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79059357T>G	ENST00000388820.4	-	19	3106	c.2896A>C	c.(2896-2898)Aat>Cat	p.N966H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGAGGACATTTCGGCGCTGA	0.667000													9	32					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685655G>T	ENST00000343414.4	+	1	740	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458000													14	83					6.31663e-08	7.49729e-08	1	1	0
KIF27	55582	broad.mit.edu	37	9	86523414	86523414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86523414G>A	ENST00000297814.2	-	3	595	c.452C>T	c.(451-453)aCa>aTa	p.T151I	KIF27_ENST00000413982.1_Missense_Mutation_p.T151I|KIF27_ENST00000334204.2_Missense_Mutation_p.T151I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	151	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCATGGATGTCTCCAATTC	0.358000													52	79					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107618547	107618547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107618547G>T	ENST00000393561.1	-	7	1201	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L	LAMB1_ENST00000393560.1_Missense_Mutation_p.F315L|LAMB1_ENST00000222399.6_Missense_Mutation_p.F315L			P07942	LAMB1_HUMAN	laminin, beta 1	315	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCATGGTAGAAATCCATGC	0.433000													6	157					0.00116845	0.00124821	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49063466	49063466	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49063466C>T	ENST00000376265.2	-	44	5325	c.5264_splice	c.e44+1	p.R1755_splice	CACNA1F_ENST00000376251.1_Splice_Site_p.R1690_splice|CACNA1F_ENST00000323022.5_Splice_Site_p.R1744_splice	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1755					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCAGTGTACCGATCAGGGAC	0.567000													6	13					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494544	139494544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139494544C>T	ENST00000331327.3	+	1	837	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	260					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCGTGCCCTACAAGGT	0.547000													12	35					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309432	50309432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309432C>T	ENST00000354293.5	+	22	2878	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	AP2A1_ENST00000359032.5_Silent_p.F926F	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	926					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTGAGAACTTCGTGGGGGCGG	0.642000													5	6					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118100340	118100340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118100340G>T	ENST00000333254.3	+	4	511	c.260G>T	c.(259-261)aGg>aTg	p.R87M	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		ACAAACCATAGGAATATGCTT	0.284000													16	41					1.78486e-19	2.33646e-19	1	1	0
USH2A	7399	broad.mit.edu	37	1	215956253	215956253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215956253G>A	ENST00000366943.2	-	53	10798	c.10412C>T	c.(10411-10413)aCa>aTa	p.T3471I	USH2A_ENST00000307340.3_Missense_Mutation_p.T3471I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3471	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTCATATGTCATGTAGGG	0.408000										HNSCC(13;0.011)			24	28					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261829	67261829	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67261829G>A	ENST00000356404.3	-	19	2970	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	PITPNM1_ENST00000534749.1_Silent_p.N915N|PITPNM1_ENST00000436757.2_Silent_p.N914N|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	915					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGAAGTGACGTTCTAGAGGG	0.682000													10	7					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64792015	64792015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64792015G>T	ENST00000326648.3	+	1	525	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	ZNF609_ENST00000416172.1_Missense_Mutation_p.G133C	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	133						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATGCTGGAGGCCTGGTTGC	0.567000													3	31					0.115264	0.117355	1	1	0
TKT	7086	broad.mit.edu	37	3	53262328	53262328	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53262328A>G	ENST00000462138.1	-	11	1531	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	TKT_ENST00000423525.2_Silent_p.Y481Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.Y434Y|TKT_ENST00000423516.1_Silent_p.Y489Y			P29401	TKT_HUMAN	transketolase	481					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATTGTTGTTATAGATGATGG	0.557000													20	28					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409750	105409750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409750G>A	ENST00000333244.5	-	7	12157	c.12038C>T	c.(12037-12039)gCc>gTc	p.A4013V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4013						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCAGTGGCCTTGAGGTC	0.662000													71	83					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039011	75039011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039011C>T	ENST00000326665.5	-	14	2601	c.2383G>A	c.(2383-2385)Gca>Aca	p.A795T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	795	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACAGTGCTGCCTCCCCTTTT	0.507000													5	97					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331180	85331180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85331180C>T	ENST00000440886.1	-	1	662	c.624G>A	c.(622-624)cgG>cgA	p.R208R	LPAR3_ENST00000370611.3_Silent_p.R208R|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	208					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACACGTAGATCCGCAGGTACA	0.532000													18	49					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550257	19550257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19550257C>T	ENST00000341998.2	-	7	1418	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E436K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	453					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCTCCTCCTCATCAGCGGTC	0.458000													45	63					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42259287	42259287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42259287C>T	ENST00000379310.3	-	35	4291	c.4223G>A	c.(4222-4224)aGg>aAg	p.R1408K		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGGAGTCCCCCTTTTCTTCTT	0.398000													30	34					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111887723	111887723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111887723T>C	ENST00000368761.5	-	7	1878	c.1400A>G	c.(1399-1401)aAa>aGa	p.K467R	TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.K476R|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.K55R|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.K466R|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.K11R|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	476	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CACGTCCTGTTTGTATTTGGG	0.488000													43	68					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075630	43075630	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43075630A>G	ENST00000267890.6	-	11	1292	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P	TTBK2_ENST00000567840.1_Missense_Mutation_p.L395P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L360P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	395					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		acaaattccAAGCTTTATCTT	0.438000													20	327					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142281518	142281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142281518G>T	ENST00000378004.3	+	7	971	c.616G>T	c.(616-618)Gga>Tga	p.G206*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.G206*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	206					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGCAAGGACTCTTCAC	0.458000													7	59					8.12818e-05	8.99451e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179467258	179467258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179467258G>T	ENST00000589042.1	-	283	55095	c.54871C>A	c.(54871-54873)Cta>Ata	p.L18291I	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9226I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15723I|TTN_ENST00000359218.5_Missense_Mutation_p.L9351I|TTN_ENST00000342175.6_Missense_Mutation_p.L9418I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16650I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16650	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCATCCTAGTGAGATGCTT	0.398000													7	9					0.00198382	0.00210581	1	1	0
PPP6R2	9701	broad.mit.edu	37	22	50857842	50857842	+	Missense_Mutation	SNP	G	G	A	rs137973527		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50857842G>A	ENST00000359139.3	+	8	1190	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	PPP6R2_ENST00000395744.3_Missense_Mutation_p.V266I|PPP6R2_ENST00000395741.3_Missense_Mutation_p.V267I|PPP6R2_ENST00000216061.5_Missense_Mutation_p.V266I	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	266						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGCTGCCTCGTCAGTGGGAC	0.562000													12	18					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123978389	123978389	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978389C>T	ENST00000274008.3	+	13	2228	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	720					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGCAGTGGCGCCTTCCATT	0.378000													22	46					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681427	3681427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681427G>A	ENST00000250693.1	+	3	779	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	226					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCCTTGGGGCCCCTATCA	0.597000													19	16					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47663803	47663803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47663803C>A	ENST00000273857.4	-	12	1659	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D415Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D517Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D487Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D517Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	554	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAATCTGTGTCTTCAGGCCAC	0.398000													4	52					0.00909568	0.00947522	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64594799	64594799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594799G>A	ENST00000342711.5	-	33	4221	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1408					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AAGAAGCGGCGCTTGCTCTTG	0.667000													54	42					0	0	1	0	0
DEFB126	81623	broad.mit.edu	37	20	126110	126110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:126110G>A	ENST00000382398.3	+	2	373	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	DEFB126_ENST00000542572.1_3'UTR	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	38					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAAGAAGTGCAAACCTGAA	0.383000													38	32					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724255	58724255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58724255A>G	ENST00000326804.4	+	9	2164	c.1705A>G	c.(1705-1707)Agg>Ggg	p.R569G	ZNF274_ENST00000424679.2_Missense_Mutation_p.R464G|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537G|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	570					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAGTGTGGGAGGACCTTCAA	0.522000													7	54					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462579	65462579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65462579G>T	ENST00000286574.4	-	4	877	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGCATTTTGAGGTGTTTGGAG	0.413000			T	HMGA2	pleomorphic salivary gland adenoma								4	69					5.9392e-07	6.91975e-07	1	1	0
ISPD	729920	broad.mit.edu	37	7	16131379	16131379	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16131379T>A	ENST00000407010.2	-	10	1296	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F	ISPD_ENST00000399310.3_Missense_Mutation_p.I383F	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	433					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AATGAAGCAATAATGATAGCA	0.328000										Multiple Myeloma(15;0.18)			5	0					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581760	99581760	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581760G>T	ENST00000481138.1	-	6	1206	c.545C>A	c.(544-546)aCt>aAt	p.T182N	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.T50N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTTGAGTGTTAGTTCT	0.398000													7	75					0.000157383	0.00017284	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58690342C>T	ENST00000254286.4	+	9	717	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTAAAGCGCGTACTTGCTT	0.338000													8	14					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297964	62297964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62297964G>A	ENST00000378024.4	-	5	4199	c.3925C>T	c.(3925-3927)Ccc>Tcc	p.P1309S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1309					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAACTTGGGGCCCTTCAGC	0.527000													78	95					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918275	48918275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48918275G>A	ENST00000263269.3	+	6	1655	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGTCTGGAACGGCATGATCGG	0.637000													18	28					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42151146	42151146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42151146C>T	ENST00000320955.6	-	48	8248	c.8021G>A	c.(8020-8022)cGc>cAc	p.R2674H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2674					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGATGGCGGCGGGTCCCGGC	0.706000													3	6					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827141	35827141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35827141G>A	ENST00000085219.5	+	4	681	c.615G>A	c.(613-615)aaG>aaA	p.K205K	CD22_ENST00000544992.2_Silent_p.K205K|CD22_ENST00000419549.2_Silent_p.K33K|CD22_ENST00000270311.6_Silent_p.K85K|CD22_ENST00000341773.6_Silent_p.K205K|CD22_ENST00000536635.2_Silent_p.K205K|CD22_ENST00000594250.1_Silent_p.K205K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	205	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCGAGCTCAAGTTCTCCCCAC	0.557000													5	43					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137939758	137939758	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939758C>T	ENST00000441825.2	-	1	83	c.46G>A	c.(46-48)Gag>Aag	p.E16K	FGF13_ENST00000370603.3_Missense_Mutation_p.E45K|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGGACTCTTTTTTCTTT	0.483000													10	84					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243327874	243327874	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327874T>C	ENST00000366542.1	-	13	3439	c.3388A>G	c.(3388-3390)Aca>Gca	p.T1130A	CEP170_ENST00000366544.1_Missense_Mutation_p.T1032A|CEP170_ENST00000366543.1_Missense_Mutation_p.T1032A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1130	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACTTGTTGTGGATACTTCA	0.488000													4	27					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76416016	76416016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76416016C>T	ENST00000357063.3	+	25	5344	c.4084C>T	c.(4084-4086)Cgg>Tgg	p.R1362W	LMO7_ENST00000526202.1_Missense_Mutation_p.R954W|LMO7_ENST00000377534.3_Missense_Mutation_p.R1362W|LMO7_ENST00000321797.8_Missense_Mutation_p.R1077W|LMO7_ENST00000465261.2_Missense_Mutation_p.R1077W|LMO7_ENST00000341547.4_Missense_Mutation_p.R1028W			Q8WWI1	LMO7_HUMAN	LIM domain 7	1362						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGCAAAAGCGGCTTCAGGC	0.522000													20	34					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091280	26091280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091280C>T	ENST00000357618.5	+	2	410	c.288C>T	c.(286-288)caC>caT	p.H96H	HFE_ENST00000309234.6_Silent_p.H96H|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Silent_p.H96H|HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Silent_p.H96H|HFE_ENST00000470149.1_Silent_p.H96H|HFE_ENST00000461397.1_Silent_p.H96H|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Silent_p.H73H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	96	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGGGATCACATGTTCACTG	0.507000									Hemochromatosis				7	60					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678612	88678612	+	Silent	SNP	C	C	T	rs145564369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88678612C>T	ENST00000394480.1	-	10	1245	c.924G>A	c.(922-924)gtG>gtA	p.V308V	NTRK3_ENST00000317501.3_Silent_p.V308V|NTRK3_ENST00000557856.1_Silent_p.V308V|NTRK3_ENST00000558676.1_Silent_p.V308V|NTRK3_ENST00000542733.2_Silent_p.V210V|NTRK3_ENST00000357724.2_Silent_p.V308V|NTRK3_ENST00000540489.2_Silent_p.V308V|NTRK3_ENST00000360948.2_Silent_p.V308V|NTRK3_ENST00000355254.2_Silent_p.V308V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	308					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCAGGCTCACCACACGTG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	18					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3750056	3750056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3750056G>A	ENST00000252505.3	+	12	1241	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	379							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTGAGCCGCCTTCGGCTC	0.592000										HNSCC(21;0.051)			11	11					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185984381	185984381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185984381T>C	ENST00000271588.4	+	31	4950	c.4721T>C	c.(4720-4722)cTt>cCt	p.L1574P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1574P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1574	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACGGGGACTTCCAATGCCT	0.408000													3	78					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439274	169439274	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169439274A>G	ENST00000236137.5	-	3	1194	c.958T>C	c.(958-960)Tgg>Cgg	p.W320R	SLC19A2_ENST00000367802.3_Missense_Mutation_p.W282R|SLC19A2_ENST00000367804.3_Missense_Mutation_p.W119R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	320					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCTCCCACAGGCCCTGT	0.522000													28	48					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66551710	66551710	+	Missense_Mutation	SNP	C	C	T	rs149036717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66551710C>T	ENST00000299697.7	-	7	870	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TK2_ENST00000527284.1_Missense_Mutation_p.V143M|TK2_ENST00000527800.1_Missense_Mutation_p.V77M|TK2_ENST00000564917.1_Missense_Mutation_p.V174M|TK2_ENST00000417693.3_Missense_Mutation_p.V156M|TK2_ENST00000545043.2_Missense_Mutation_p.V149M|TK2_ENST00000563369.2_Missense_Mutation_p.V77M|TK2_ENST00000544898.1_Missense_Mutation_p.V125M|TK2_ENST00000525974.1_Missense_Mutation_p.V77M|TK2_ENST00000451102.2_Missense_Mutation_p.V174M	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	174					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCAACAGACACGTCCATGTTC	0.517000													17	53					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910032	129910032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129910032A>G	ENST00000368654.3	-	11	2512	c.2137T>C	c.(2137-2139)Tct>Cct	p.S713P	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.S353P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	713					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTACAAGGAGAGTTTGCGTGG	0.418000													42	57					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684448	64684448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684448C>T	ENST00000413366.3	+	7	741	c.715C>T	c.(715-717)Cga>Tga	p.R239*		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	239	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAAGACCGACGACTGTCTGT	0.448000													28	45					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71492953G>A	ENST00000296755.7	+	5	4069	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257						microtubule|microtubule associated complex	structural molecule activity	p.P1257P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498000													22	34					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1558720	1558720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1558720G>T	ENST00000572621.1	-	36	6176	c.5911C>A	c.(5911-5913)Ctg>Atg	p.L1971M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1971M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1971	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGTCAGTCAGAGTGGGCCAG	0.507000													21	40					2.4624e-09	2.98951e-09	1	1	0
CD1A	909	broad.mit.edu	37	1	158224912	158224912	+	Missense_Mutation	SNP	G	G	A	rs140904380	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158224912G>A	ENST00000289429.5	+	2	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468000													38	71					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121427277	121427277	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121427277G>A	ENST00000275159.6	-	31	3479	c.3480C>T	c.(3478-3480)ggC>ggT	p.G1160G	TBC1D32_ENST00000398212.2_Silent_p.G1119G|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		CTGGATGGATGCCAGATTCTA	0.303000													11	166					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591213	43591213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43591213C>A	ENST00000409746.5	-	5	359	c.288G>T	c.(286-288)caG>caT	p.Q96H	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.Q96H	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	96						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CTCTTAAACTCTGTGCAAGCT	0.338000													8	201					0.000274275	0.000298791	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227335230	227335230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227335230C>A	ENST00000366769.3	-	7	2015	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D242Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	242	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGATATAATCTGGAGTTCCT	0.348000													30	51					9.78485e-24	1.2965e-23	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94039589	94039589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94039589C>T	ENST00000297268.6	+	20	1542	c.1071C>T	c.(1069-1071)agC>agT	p.S357S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	357					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGAGAGAGCGGTAACAAGG	0.418000										HNSCC(75;0.22)			20	20					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43020212	43020212	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43020212T>C	ENST00000356231.3	-	22	2911	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	963						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CACAGCAATGTTCTCTGCACT	0.552000													9	224					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131763	72131763	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131763A>G	ENST00000265381.4	-	2	586	c.364T>C	c.(364-366)Tac>Cac	p.Y122H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGGCCGGTACTGCACAGCA	0.731000													3	25					0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45370113	45370113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370113C>T	ENST00000325192.3	+	2	750	c.475C>T	c.(475-477)Cga>Tga	p.R159*	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.R159*|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTCCAACTGGCGATGCCCAAC	0.343000													17	31					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176381	111176381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111176381C>T	ENST00000267328.3	-	2	549	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTTTGTTCCCCACGATGG	0.612000													21	35					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131820178	131820178	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131820178C>A	ENST00000245414.4	-	9	987	c.729G>T	c.(727-729)caG>caT	p.Q243H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q243H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	243					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCACTCCGACTGCTCCAAGA	0.567000													29	52					3.57733e-08	4.26642e-08	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6050601	6050601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6050601G>A	ENST00000409021.3	-	16	2460	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L486F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	442					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGGGCAAGCACAGTTCCA	0.463000													3	30					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088179	31088179	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31088179A>G	ENST00000394979.2	+	1	957	c.534A>G	c.(532-534)ccA>ccG	p.P178P	ZNF646_ENST00000300850.5_Silent_p.P178P			O15015	ZN646_HUMAN	zinc finger protein 646	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAAGCCACCCAGGTCCTGAGG	0.592000													4	64					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158850911	158850911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158850911G>A	ENST00000367097.3	+	3	1882	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.W175*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	175					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGGCATATGGACTCCTGACG	0.498000													11	81					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652086	3652086	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652086T>C	ENST00000356518.2	-	17	2204	c.1963A>G	c.(1963-1965)Act>Gct	p.T655A	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.T655A|ADAM33_ENST00000350009.2_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	655	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCAGGCAGTCAGGCAGCGC	0.632000													7	87					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73320902	73320902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73320902G>A	ENST00000390667.5	+	10	1232	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BORA_ENST00000377815.3_Missense_Mutation_p.D309N	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	379					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ACCCGCCATGGATGCTGCTGG	0.443000													29	49					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7527243G>A	ENST00000313599.3	-	13	3261	c.3204C>T	c.(3202-3204)agC>agT	p.S1068S	CD163L1_ENST00000416109.2_Silent_p.S1078S|CD163L1_ENST00000396630.1_Silent_p.S1068S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928743	32928743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32928743A>G	ENST00000361627.3	+	12	2491	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N401S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N401S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATGAAAATAACATGACCAAA	0.383000													31	59					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153263	43153263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43153263G>A	ENST00000252050.4	+	3	749	c.665G>A	c.(664-666)aGt>aAt	p.S222N	CUL9_ENST00000372647.2_Missense_Mutation_p.S222N|CUL9_ENST00000354495.3_Missense_Mutation_p.S222N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	222					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATTTTGACAGTCGCTATACA	0.507000													4	44					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52678781	52678781	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52678781A>C	ENST00000356770.4	-	8	840	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	PBRM1_ENST00000394830.3_Missense_Mutation_p.F280V|PBRM1_ENST00000296302.7_Missense_Mutation_p.F280V|PBRM1_ENST00000409114.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409057.1_Missense_Mutation_p.F280V|PBRM1_ENST00000409767.1_Missense_Mutation_p.F280V|PBRM1_ENST00000337303.4_Missense_Mutation_p.F280V|PBRM1_ENST00000410007.1_Missense_Mutation_p.F280V			Q86U86	PB1_HUMAN	polybromo 1	280					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCatataaaatattttttta	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								6	7					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040467	184040467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184040467C>T	ENST00000342981.4	+	11	2158	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	EIF4G1_ENST00000427845.1_Missense_Mutation_p.H495Y|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000346169.2_Missense_Mutation_p.H582Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.H582Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.H418Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.H589Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.H418Y|EIF4G1_ENST00000414031.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.H495Y	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	582	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACAAAATTCACAATGCTGA	0.507000													18	21					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63904729	63904729	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63904729G>T	ENST00000443617.2	-	77	14208	c.14121C>A	c.(14119-14121)tcC>tcA	p.S4707S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4707	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAACAATCCAGGACATCCCTT	0.577000													8	50					0.00621372	0.00652201	1	1	0
ZNF223	7766	broad.mit.edu	37	19	44531552	44531552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44531552C>T	ENST00000591793.1	+	3	255	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	ZNF222_ENST00000391960.3_Missense_Mutation_p.H58Y|ZNF222_ENST00000587846.1_Missense_Mutation_p.H58Y|ZNF222_ENST00000187879.8_Intron|ZNF222_ENST00000590160.1_3'UTR			Q9UK11	ZN223_HUMAN	zinc finger protein 223	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTTCACAGGGCATCAACCATT	0.423000													17	29					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70586309	70586309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70586309G>A	ENST00000449580.1	+	1	196	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	TAF1_ENST00000276072.3_Missense_Mutation_p.A49T|TAF1_ENST00000373790.4_Missense_Mutation_p.A49T|TAF1_ENST00000423759.1_Missense_Mutation_p.A49T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	49	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAATGGAGCCGGGCAGCT	0.627000													9	10					0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889524	118889524	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889524T>C	ENST00000533632.1	+	1	383	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.Y7H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	7					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTTAGTGTGTATGTGGTGAA	0.572000													9	148					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013151	183013151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183013151C>T	ENST00000328913.3	-	13	1909	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.A538T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A538T|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A538T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	538					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATGTGGGGCCACAGGTTGC	0.488000													27	46					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220111265	220111265	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220111265T>C	ENST00000409260.1	+	2	216	c.108T>C	c.(106-108)ctT>ctC	p.L36L	STK16_ENST00000486813.1_Intron|STK16_ENST00000409743.1_Intron|STK16_ENST00000409516.3_Intron|STK16_ENST00000409638.3_Intron|STK16_ENST00000396738.2_Intron			O75716	STK16_HUMAN	serine/threonine kinase 16	29	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCACATCTTGGGAAGGTTT	0.473000													4	2					0	0	1	0	0
STXBP5	0	broad.mit.edu	37	6	147703945	147703945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:147703945G>A	ENST00000367481.3	+	25	3225	c.3117G>A	c.(3115-3117)agG>agA	p.R1039R	STXBP5_ENST00000179882.6_Silent_p.R730R|STXBP5_ENST00000321680.6_Silent_p.R1075R|STXBP5_ENST00000367480.3_Silent_p.R1022R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1075					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCTTCAAGGAGCCTTGCAC	0.443000													67	114					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70507832	70507832	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70507832A>G	ENST00000449833.2	-	1	91	c.41T>C	c.(40-42)aTg>aCg	p.M14T	SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.M14T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.M14T|SHANK2_ENST00000409161.1_Missense_Mutation_p.M13T|SHANK2_ENST00000409530.1_Missense_Mutation_p.M13T	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCCGTCATCATCACCGCGGC	0.547000													36	83					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120799600	120799600	+	Nonsense_Mutation	SNP	G	G	T	rs142458983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120799600G>T	ENST00000263713.5	+	3	413	c.199G>T	c.(199-201)Gag>Tag	p.E67*	EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E67*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	67	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348000													6	98					3.59834e-05	4.01776e-05	1	1	0
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639635C>T	ENST00000593003.1	-	6	1449	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443000													18	35					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208206762	208206762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208206762G>A	ENST00000367033.3	-	28	5714	c.4957C>T	c.(4957-4959)Cat>Tat	p.H1653Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1653					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCACCAGATGCCACACCTTG	0.622000													27	36					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87446036	87446036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87446036C>T	ENST00000268616.4	-	12	2097	c.1880G>A	c.(1879-1881)aGc>aAc	p.S627N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	627					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAGGACTGTGCTGGGCGTCCC	0.602000													4	88					0	0	1	0	0
PCDHA13	0	broad.mit.edu	37	5	140263264	140263264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140263264G>A	ENST00000289272.2	+	1	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHA13_ENST00000409494.1_Missense_Mutation_p.G471S|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCGCCGGGCTGCCACAT	0.677000													22	57					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486137	94486137	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94486137T>A	ENST00000375708.3	-	9	2837	c.2639A>T	c.(2638-2640)aAc>aTc	p.N880I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	880	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGGATGTGTTGGAGGGGGC	0.652000													13	78					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049260	19049260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19049260G>A	ENST00000421369.3	+	8	1298	c.740G>A	c.(739-741)cGc>cAc	p.R247H	TMC7_ENST00000304381.5_Missense_Mutation_p.R357H|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.R357H	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	357						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAAACAATACGCATTTACTCT	0.413000													55	57					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376558	52376558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376558G>T	ENST00000420592.1	-	6	1841	c.508C>A	c.(508-510)Ctc>Atc	p.L170I	ZNF577_ENST00000301399.5_Missense_Mutation_p.L229I|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.L170I			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGACCATGAGCTGTGACTTT	0.498000													10	20					0.000442599	0.00048047	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72408216	72408216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408216C>T	ENST00000359373.5	-	22	3829	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	ARAP1_ENST00000426523.1_Missense_Mutation_p.R748H|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R993H|ARAP1_ENST00000334211.8_Missense_Mutation_p.R748H|ARAP1_ENST00000393609.3_Missense_Mutation_p.R993H|ARAP1_ENST00000429686.1_Missense_Mutation_p.R687H|ARAP1_ENST00000393605.3_Missense_Mutation_p.R753H			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	993	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCACACTTGCGGTAGATGCC	0.682000													5	55					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125295110	125295110	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125295110T>C	ENST00000296220.5	-	5	878	c.589A>G	c.(589-591)Aat>Gat	p.N197D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	197					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTCCAACATTAAAAAAAGAA	0.383000													6	81					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751701	247751701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751701G>T	ENST00000320065.1	+	1	40	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACCTAGCAGGTTTCATCCT	0.403000													52	60					3.10996e-30	4.16621e-30	1	1	0
BCL6	604	broad.mit.edu	37	3	187447458	187447458	+	Silent	SNP	C	C	T	rs2228258	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187447458C>T	ENST00000406870.2	-	5	1101	c.735G>A	c.(733-735)ccG>ccA	p.P245P	BCL6_ENST00000232014.4_Silent_p.P245P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.P245P|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	245					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTCCAAAGTCGGCCGGCTGT	0.567000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								8	17					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38922856	38922856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922856G>T	ENST00000335552.4	-	8	1366	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	440	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCAGTGAAAGGAGATTGCCA	0.338000													8	79					5.4927e-09	6.6252e-09	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165749631	165749631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165749631G>A	ENST00000366882.1	-	22	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P740S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P750S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	740					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCAGAAGAGGCTCCGTGGGA	0.468000													16	21					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310441	178310441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310441C>T	ENST00000322434.3	+	5	1214	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAATACAATCCAGGCAGGAA	0.388000													21	54					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102477134	102477134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102477134C>T	ENST00000360184.4	+	32	6627	c.6463C>T	c.(6463-6465)Ccg>Tcg	p.P2155S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2155					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGGACATCCCGCTGCTCTT	0.582000													17	41					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496819	216496819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216496819C>T	ENST00000366943.2	-	8	1933	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	USH2A_ENST00000366942.3_Missense_Mutation_p.G516E|USH2A_ENST00000307340.3_Missense_Mutation_p.G516E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAATACCTCCCACTAATGGT	0.368000										HNSCC(13;0.011)			29	53					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25432740	25432740	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25432740C>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						AAAAATCATGCTCAATAGGAT	0.488000													17	282					1.99824e-07	2.35189e-07	1	1	0
CCDC109B	55013	broad.mit.edu	37	4	110608696	110608696	+	Missense_Mutation	SNP	G	G	A	rs144584495	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110608696G>A	ENST00000394650.4	+	8	1092	c.959G>A	c.(958-960)cGt>cAt	p.R320H		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	320						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAACAGGCGCGTCATTCTCTC	0.353000													25	48					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140347082	140347082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347082C>T	ENST00000289269.5	+	1	1263	c.731C>T	c.(730-732)tCt>tTt	p.S244F	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		244	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGATCTCTGTGCGTGTC	0.622000													24	50					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128845485	128845485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128845485G>A	ENST00000249373.3	+	4	1062	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTCGAATCGCTACCCTGCT	0.537000			Mis		skin basal cell								25	96					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202385	103202385	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103202385C>A	ENST00000428762.1	-	35	5385	c.5226G>T	c.(5224-5226)cgG>cgT	p.R1742R	RELN_ENST00000424685.2_Silent_p.R1742R|RELN_ENST00000343529.5_Silent_p.R1742R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATCTGAACCGGGTCCTGG	0.453000													7	32					0.248553	0.25002	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23411710	23411710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411710A>G	ENST00000379361.4	+	3	2935	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	692					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGGATCGATATGCCTCCTCT	0.493000													40	53					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19365463	19365463	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19365463G>T	ENST00000263208.5	-	14	1798	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	HIRA_ENST00000546308.1_Silent_p.A470A|HIRA_ENST00000541063.1_Silent_p.A470A|HIRA_ENST00000340170.4_Silent_p.A514A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	514	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGGCTTCGAGGCGCCGAAGG	0.597000													8	103					0.27861	0.279982	1	1	0
TMEM237	65062	broad.mit.edu	37	2	202494502	202494502	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202494502C>T	ENST00000409444.2	-	8	920	c.603G>A	c.(601-603)aaG>aaA	p.K201K	TMEM237_ENST00000409883.2_Silent_p.K209K|TMEM237_ENST00000466839.1_5'UTR	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	233						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TCCAGGAAGGCTTCACGTCCA	0.433000													24	53					0	0	1	0	0
IRAK3	0	broad.mit.edu	37	12	66641935	66641935	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641935A>G	ENST00000261233.4	+	12	2196	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q531R	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	592					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATATGAACAGTACAAAAAA	0.418000													10	66					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13373855	13373855	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13373855A>G	ENST00000254508.5	-	29	3955	c.3873T>C	c.(3871-3873)ccT>ccC	p.P1291P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1291					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCTATTTCAGGGTTGAGCA	0.473000													4	108					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190331306	190331306	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190331306A>G	ENST00000314761.4	+	13	1505	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	482						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGACATATACAGTAAGTTA	0.333000													25	36					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964235	69964235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69964235G>A	ENST00000299293.2	+	7	701	c.191G>A	c.(190-192)cGc>cAc	p.R64H	FRS2_ENST00000397997.2_Missense_Mutation_p.R64H|FRS2_ENST00000550389.1_Missense_Mutation_p.R64H|FRS2_ENST00000549921.1_Missense_Mutation_p.R64H	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	64	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCTGCGACGCTATGGCTAT	0.403000													27	48					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448867	89448867	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448867A>G	ENST00000399794.2	-	3	1358	c.643T>C	c.(643-645)Tct>Cct	p.S215P	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S215P|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	215							nucleotide binding|RNA binding										TCTTTAGTAGAATACCCATCA	0.448000													122	86					0	0	1	0	0
PGGT1B	5229	broad.mit.edu	37	5	114573601	114573601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114573601C>A	ENST00000419445.1	-	4	453	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PGGT1B_ENST00000379615.3_Nonsense_Mutation_p.E145*	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	145					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	AAGCAAGCTTCTTTATTTACT	0.408000													13	109					2.31682e-05	2.60394e-05	1	1	0
REV3L	5980	broad.mit.edu	37	6	111694798	111694798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111694798C>A	ENST00000435970.1	-	15	5342	c.4526G>T	c.(4525-4527)aGa>aTa	p.R1509I	REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I|REV3L_ENST00000358835.3_Missense_Mutation_p.R1587I|REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1587					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTGTACTTCTGGGAGTTCG	0.358000								DNA polymerases (catalytic subunits)					9	290					3.07112e-06	3.52574e-06	1	1	0
CAMSAP3	57662	broad.mit.edu	37	19	7677157	7677157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7677157C>T	ENST00000446248.2	+	13	1960	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P593L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	593					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGCCCCGCCGGAGGCCCTG	0.637000													5	4					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614215	46614215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46614215G>T	ENST00000396000.2	+	5	690	c.425G>T	c.(424-426)aGc>aTc	p.S142I	PPARA_ENST00000407236.1_Missense_Mutation_p.S142I|PPARA_ENST00000402126.1_Missense_Mutation_p.S142I|PPARA_ENST00000434345.2_Missense_Mutation_p.S142I|PPARA_ENST00000262735.5_Missense_Mutation_p.S142I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	142					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGCGACCGCAGCTGCAAGATC	0.493000													8	54					1.06961e-07	1.26574e-07	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34238175	34238175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34238175C>T	ENST00000373381.4	-	13	2017	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	CSMD2_ENST00000338325.1_Missense_Mutation_p.C222Y	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	574	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACACACGCAGCCTGGCTT	0.582000													5	61					0	0	1	0	0
CCSAP	126731	broad.mit.edu	37	1	229462700	229462700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229462700C>A	ENST00000284617.2	-	3	545	c.421G>T	c.(421-423)Gag>Tag	p.E141*	CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Nonsense_Mutation_p.E141*|CCSAP_ENST00000366686.1_Nonsense_Mutation_p.E27*	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein																		TTGTCAGTCTCTCTTGTTCTG	0.403000													20	137					1.15919e-05	1.31461e-05	1	1	0
HAS3	3038	broad.mit.edu	37	16	69143877	69143877	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143877G>T	ENST00000306560.1	+	2	735	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HAS3_ENST00000219322.3_Missense_Mutation_p.K193N|HAS3_ENST00000569188.1_Missense_Mutation_p.K193N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	193					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGGAGGCAAGCGCGAGGTCA	0.627000													4	31					0.00024832	0.0002712	1	1	0
PCDHGB2	0	broad.mit.edu	37	5	140740498	140740498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140740498G>A	ENST00000522605.1	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGTGACAGCCACCGACCG	0.507000													22	18					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158490681	158490681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158490681G>A	ENST00000355585.4	+	14	1991	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R639H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R639H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	639							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTTTGTACGTCCATACCAT	0.458000													21	25					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178875981	178875981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178875981C>T	ENST00000367635.3	+	19	2039	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	RALGPS2_ENST00000367634.2_Silent_p.A541A|RALGPS2_ENST00000324778.4_Silent_p.A532A	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	567	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGTGCAGCCTGCCAAAGTA	0.348000													6	51					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31964364	31964364	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31964364C>T	ENST00000428956.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4A_ENST00000498271.1_Silent_p.A1221A	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TGGCAATGGCCCAGGAGACTG	0.642000													10	37					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183072602	183072602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183072602C>T	ENST00000258341.4	+	2	815	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	186	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACACCTACTCCAAGGCAA	0.567000													7	84					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105765355	105765355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105765355C>T	ENST00000369755.3	+	10	2931	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SLK_ENST00000335753.4_Missense_Mutation_p.R796C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	796					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAAACACGCAAATTTAT	0.333000													29	38					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74347325	74347325	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74347325T>C	ENST00000263665.6	-	17	2211	c.2184A>G	c.(2182-2184)ctA>ctG	p.L728L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	728	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCATTCTGTAGTTCTTCAG	0.463000													18	12					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361517	70361517	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361517C>T	ENST00000305107.6	-	1	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.G21G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	21					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCACAACTCCCAGAGCTAA	0.468000													66	122					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132719709	132719709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132719709G>A	ENST00000420781.1	-	6	661	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FNBP1_ENST00000355681.3_Missense_Mutation_p.A148V|FNBP1_ENST00000446176.2_Missense_Mutation_p.A148V			Q96RU3	FNBP1_HUMAN	formin binding protein 1	148	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CGCCCTGTCCGCCTCTTTGCA	0.428000			T	MLL	AML								17	17					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157454310	157454310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157454310C>T	ENST00000346085.5	+	8	2521	c.2520C>T	c.(2518-2520)taC>taT	p.Y840Y	ARID1B_ENST00000350026.5_Silent_p.Y827Y|ARID1B_ENST00000275248.4_Silent_p.Y769Y|ARID1B_ENST00000367148.1_Silent_p.Y827Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	827					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGGGACTTACGGTCCACAGA	0.478000													11	23					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368619	22368619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22368619C>A	ENST00000332663.2	+	1	142	c.44C>A	c.(43-45)aCt>aAt	p.T15N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTTCTCACTGGCCTATCC	0.338000													69	97					6.72169e-28	8.9774e-28	1	1	0
ART5	116969	broad.mit.edu	37	11	3660958	3660958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3660958C>A	ENST00000397068.3	-	2	1093	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ART5_ENST00000359918.4_Missense_Mutation_p.R234I|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGAGAATCTGGTAACCAA	0.512000													11	122					0.00010058	0.000111121	1	1	0
ZNF85	7639	broad.mit.edu	37	19	21131860	21131860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131860C>T	ENST00000601023.1	+	2	1009	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ZNF85_ENST00000328178.8_Silent_p.G180G|ZNF85_ENST00000345030.6_Silent_p.G147G			Q03923	ZNF85_HUMAN	zinc finger protein 85	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAAATGTGGCAAATCATTTG	0.303000													17	51					0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873514	139873514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139873514T>C	ENST00000224167.2	+	2	259	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Silent_p.L62L			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	62					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGGCGGCGTTGTCCATGTG	0.687000													4	35					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2931989	2931989	+	Silent	SNP	C	C	T	rs61744187	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2931989C>T	ENST00000228799.2	+	10	1117	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ITFG2_ENST00000542548.1_Silent_p.C214C|ITFG2_ENST00000419778.2_Silent_p.C149C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	326										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TAGTTGCATGCGCCTGGGATG	0.522000													16	39					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157370773	157370773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370773G>A	ENST00000389413.3	-	17	2572	c.2469C>T	c.(2467-2469)ggC>ggT	p.G823G	PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389418.4_Silent_p.G852G|PTPRN2_ENST00000404321.2_Silent_p.G875G|PTPRN2_ENST00000389416.4_Silent_p.G835G	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	852	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGCCGGACGCCGTTCTCCG	0.632000													35	28					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105185	44105185	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105185G>A	ENST00000267812.3	-	6	1119	c.887_splice	c.e6+1	p.A296_splice		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	296						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTTACTCACGCTTCTCGATC	0.423000													130	201					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100274325	100274325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100274325C>A	ENST00000338687.7	-	11	1906	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TRMT2B_ENST00000372939.1_Missense_Mutation_p.K367N|TRMT2B_ENST00000372936.3_Missense_Mutation_p.K412N|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372931.5_Missense_Mutation_p.K412N|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K412N			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	412							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTCCATCTTCCTTTGACTTTA	0.468000													25	34					5.45024e-15	6.98109e-15	1	1	0
USP20	0	broad.mit.edu	37	9	132630508	132630508	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132630508G>A	ENST00000315480.4	+	11	1073	c.915G>A	c.(913-915)tcG>tcA	p.S305S	USP20_ENST00000358355.1_Silent_p.S305S|USP20_ENST00000372429.3_Silent_p.S305S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	305					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCAGCTCGCAGGCCGAGA	0.657000													15	27					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470569	92470569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92470569C>A	ENST00000267622.4	-	11	4124	c.3751G>T	c.(3751-3753)Gca>Tca	p.A1251S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1251					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAACCTGTGCTTGAAGTTGG	0.398000			T	PDGFRB	AML								29	33					1.74807e-11	2.18057e-11	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120776053	120776053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776053C>T	ENST00000527524.2	+	13	1614	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443C			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGCAATGACCGCTACGAGGG	0.542000													82	131					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239180112	239180112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239180112G>A	ENST00000254657.3	-	6	892	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	PER2_ENST00000440245.1_Silent_p.L205L|PER2_ENST00000355768.2_Silent_p.L205L|PER2_ENST00000254658.3_Silent_p.L205L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	205	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGATGTACAGGATCTTCCCA	0.527000													3	31					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704581	33704581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33704581C>T	ENST00000269187.5	-	3	1085	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	SLC39A6_ENST00000440549.2_Missense_Mutation_p.C16Y|SLC39A6_ENST00000590986.1_Missense_Mutation_p.C291Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	291						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GATGGCTGGACAGAGATAGTT	0.413000													38	50					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239760	24239760	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24239760G>A	ENST00000338315.4	+	4	393	c.393G>A	c.(391-393)ctG>ctA	p.L131L	MFSD2B_ENST00000406420.3_Silent_p.L131L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	131					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTTCTTCCTGTGGTTCCTGC	0.662000													4	37					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833168	41833168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41833168C>A	ENST00000327492.3	-	2	888	c.182G>T	c.(181-183)gGg>gTg	p.G61V		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	61					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACCATCTCCCCAATGTGAAC	0.577000													6	43					0.0293803	0.0301098	1	1	0
SLC7A1	6541	broad.mit.edu	37	13	30110258	30110258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30110258C>T	ENST00000380752.5	-	3	454	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	23				R -> P (in Ref. 2; CAA40560).	cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCTCCCGGCTACAGTC	0.587000													18	29					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6532586	6532586	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6532586C>T	ENST00000377748.1	-	11	1809		c.e11+1		PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTACTCACGTTGATGATC	0.642000													3	17					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761033	48761033	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761033G>T	ENST00000285238.8	+	27	3950	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1290					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGAGGTGGAGTTCCGGAATT	0.662000													4	32					2.56e-06	2.9446e-06	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72128039	72128039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72128039C>T	ENST00000555818.1	+	7	2458	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R179W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R704W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R704W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	704	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGAGGAAGCGGCACATTGG	0.423000													14	29					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105912435	105912435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105912435G>A	ENST00000357060.3	-	28	3705	c.3590C>T	c.(3589-3591)aCa>aTa	p.T1197I	WDR96_ENST00000428666.1_Missense_Mutation_p.T1198I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1197										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGGCCTGTGTGCTTTCTTG	0.338000													48	72					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180367	32180367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32180367C>T	ENST00000375023.3	-	17	2702	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	855	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGAATTGCGTGGGCAGGG	0.607000													35	77					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240752	39240752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240752G>T	ENST00000391417.4	+	1	294	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gcaagccccagtgctgccagt	0.682000													3	17					0.115264	0.117355	1	1	0
QPCT	25797	broad.mit.edu	37	2	37586802	37586802	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37586802G>T	ENST00000338415.3	+	3	505	c.347G>T	c.(346-348)gGg>gTg	p.G116V	QPCT_ENST00000537448.1_Missense_Mutation_p.G67V	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	116					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACACCCTATGGGTACCGGTCT	0.463000													21	35					1.50039e-11	1.87199e-11	1	1	0
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1633_splice	c.e12+1	p.N544_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284000													23	17					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55337188	55337188	+	Silent	SNP	G	G	A	rs145971053	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55337188G>A	ENST00000371269.3	-	5	809	c.711C>T	c.(709-711)taC>taT	p.Y237Y	DHCR24_ENST00000535035.1_Silent_p.Y196Y|DHCR24_ENST00000537443.1_Silent_p.Y69Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	237					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGCTTGACGTACTTCTTGG	0.602000													20	36					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366750	184366750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184366750C>A	ENST00000504169.1	+	2	542	c.335C>A	c.(334-336)gCt>gAt	p.A112D	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.A112D	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	112					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGACAGATGCTCCAACCTAT	0.363000													39	42					8.16277e-20	1.06952e-19	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139371902	139371902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139371902C>T	ENST00000313050.7	-	1	239	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTACTAAAAGCAAATGGATCC	0.562000													16	24					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752451	36752451	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752451C>A	ENST00000354618.5	+	4	844	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S207Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	207	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGACATTCTCTGGAGGCACC	0.547000			T	USP6	aneurysmal bone cysts								11	91					3.07112e-06	3.52574e-06	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3929833	3929833	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3929833C>A	ENST00000262367.5	-	1	894	c.85_splice	c.e1+1	p.D29_splice	CREBBP_ENST00000382070.3_Splice_Site_p.D29_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	29		Breakpoint for translocation to form MYST4-CREBBP.			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCTCCTCACCTGTGCTGTCA	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	7					8.12818e-05	8.99451e-05	1	1	0
RERE	473	broad.mit.edu	37	1	8418647	8418647	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8418647C>T	ENST00000337907.3	-	21	4582	c.3948G>A	c.(3946-3948)gaG>gaA	p.E1316E	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.E1048E|RERE_ENST00000476556.1_Silent_p.E762E|RERE_ENST00000400908.2_Silent_p.E1316E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1316	Arg/Glu-rich (mixed charge).				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCAGCTCCCGCTCTCGGATCT	0.692000													6	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179603981	179603981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179603981G>A	ENST00000589042.1	-	48	14203	c.13979C>T	c.(13978-13980)aCg>aTg	p.T4660M	TTN_ENST00000460472.2_Missense_Mutation_p.T4297M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T4422M|TTN_ENST00000342175.6_Missense_Mutation_p.T4489M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T4343M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4343							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGACTAGCGTATATGTATT	0.383000													9	21					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2738483	2738483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2738483G>A	ENST00000320876.6	+	26	3703	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1122H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1122					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGATATGCGCTATTGCCAG	0.398000													8	26					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107944222	107944222	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107944222A>G	ENST00000393094.2	+	10	1727	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	371					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCAAGAGATAAGGTATATAT	0.239000													3	36					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153669466	153669466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153669466C>T	ENST00000447750.2	+	7	1078	c.743C>T	c.(742-744)aCa>aTa	p.T248I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	248					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATGGGGGGACATATATGCTG	0.567000													50	89					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150892037	150892037	+	Missense_Mutation	SNP	C	C	T	rs139222111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150892037C>T	ENST00000261800.5	-	20	11606	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3865	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCAGGCGAATGGAAGC	0.582000													30	39					0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108912950	108912950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108912950C>T	ENST00000552695.1	+	3	1310	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	359	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCATTATAAACTCGTTTACAT	0.542000													43	54					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325839	1325839	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1325839C>A	ENST00000400809.3	-	7	869	c.864_splice	c.e7+1	p.K288_splice	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Splice_Site_p.K66_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	288					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433000													27	53					9.04412e-07	1.0505e-06	1	1	0
FOXL2	668	broad.mit.edu	37	3	138664485	138664485	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138664485G>A	ENST00000330315.3	-	1	1497	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	360					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTGGTCCCAGTAAGAGCAAT	0.711000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						15	23					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795563	9795563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9795563C>T	ENST00000377298.4	-	13	2637	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	CLSTN1_ENST00000377288.3_Silent_p.T596T|CLSTN1_ENST00000361311.4_Silent_p.T605T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	615					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502000													8	94					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187501837	187501837	+	Splice_Site	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187501837G>C	ENST00000261023.3	+	8	1076		c.e8+1		ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGCATAGATGGTATGAAGTAC	0.378000													3	105					0	0	1	0	0
TEX13B	0	broad.mit.edu	37	X	107225148	107225148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107225148G>A	ENST00000302917.1	-	2	302	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	70										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCCAGGCTGCCCCAGGTGC	0.597000													45	93					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46224421	46224421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46224421C>T	ENST00000336378.4	+	3	356	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FAM21C_ENST00000540872.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000359860.4_Intron|FAM21C_ENST00000537517.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000374362.2_Missense_Mutation_p.H80Y	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	80										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCGCCTGCATAATGTCTT	0.388000													53	91					0	0	1	0	0
PCDHGA12	0	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597000													17	33					0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423000													12	116					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749132	62749132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62749132G>A	ENST00000280377.5	+	8	849	c.791G>A	c.(790-792)tGt>tAt	p.C264Y	USP15_ENST00000353364.3_Missense_Mutation_p.C235Y|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.C239Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	264					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAATTACTGTCTTCCATCA	0.333000													9	27					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110102601	110102601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110102601G>A	ENST00000343115.4	-	14	2064	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	RDX_ENST00000405097.1_Missense_Mutation_p.A582V|RDX_ENST00000528498.1_Missense_Mutation_p.A582V|RDX_ENST00000528900.1_Missense_Mutation_p.A235V|RDX_ENST00000530301.1_Missense_Mutation_p.A178V|RDX_ENST00000544551.1_Missense_Mutation_p.A446V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	582					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTCACATTGCTTCAAACTC	0.428000													19	217					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294743	22294743	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22294743G>A	ENST00000306482.1	-	2	617	c.99C>T	c.(97-99)ccC>ccT	p.P33P	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	33					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGCCCCGCCGGGACAGATGG	0.607000													12	12					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153005669	153005669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005669C>T	ENST00000218104.3	+	6	2011	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	538	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCCCAGCGCATGTTCTA	0.637000													28	60					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128631594	128631594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128631594C>T	ENST00000272647.5	-	3	475	c.215G>A	c.(214-216)gGa>gAa	p.G72E	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547000													27	56					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461189	119461189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119461189C>T	ENST00000450136.1	+	2	1329	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390C	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	390					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCGCTGACCGTGGTAACTA	0.493000													5	90					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29904471	29904471	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29904471G>A	ENST00000490103.1	-	20	2149	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	THOC5_ENST00000397873.2_Missense_Mutation_p.P676L|THOC5_ENST00000397872.1_Missense_Mutation_p.P676L|THOC5_ENST00000397871.1_Missense_Mutation_p.P676L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	676					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCCCTGAGGATGGTTGTA	0.488000													12	20					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167830117	167830117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167830117G>T	ENST00000367848.1	-	15	2022	c.1525C>A	c.(1525-1527)Cat>Aat	p.H509N	ADCY10_ENST00000367851.4_Missense_Mutation_p.H601N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H448N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	601					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTGAACATGGAAAATGTCA	0.398000													20	72					1.96292e-10	2.41709e-10	1	1	0
MEF2B	100271849	broad.mit.edu	37	19	19257608	19257608	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19257608C>A	ENST00000602424.2	-	8	1344	c.618G>T	c.(616-618)ggG>ggT	p.G206G	MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G223G|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G206G|MEF2B_ENST00000162023.5_Silent_p.G206G|MEF2B_ENST00000410050.1_Silent_p.G206G|MEF2B_ENST00000424583.2_Silent_p.G206G|MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000409224.1_Silent_p.G209G	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTGACCTCCGCCCTTCCGTCG	0.662000													10	20					9.70103e-10	1.18443e-09	1	1	0
ERGIC2	51290	broad.mit.edu	37	12	29496212	29496212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29496212G>A	ENST00000360150.4	-	12	904	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	277					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TTAATGATACGTTCCTAAAAG	0.418000													7	65					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33373380G>A	ENST00000303296.4	+	15	3339	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	HIPK3_ENST00000525975.1_Missense_Mutation_p.A991T|HIPK3_ENST00000456517.1_Missense_Mutation_p.A991T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A991T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAGCATATGGCAAACACAGG	0.438000													13	13					0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122522801	122522801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122522801G>A	ENST00000389682.3	+	6	792	c.545G>A	c.(544-546)cGc>cAc	p.R182H	TSN_ENST00000536142.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.R177H|TSN_ENST00000498545.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	182	Leucine-zipper (Potential).				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCCGGTTTTCGCCTTCTCAAC	0.512000													95	141					0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683487	182683487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182683487G>A	ENST00000292782.4	-	2	211	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.Q5*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	20	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCACTAGATTGTGTGAAGATC	0.313000													35	56					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884408	38884408	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38884408A>C	ENST00000339659.3	+	11	3309	c.1839A>C	c.(1837-1839)caA>caC	p.Q613H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q622H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q394H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	622	Poly-His.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						atGGACAACAAGCCTTGGGTA	0.512000													3	46					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128252448	128252448	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128252448T>G	ENST00000295321.4	-	8	2058	c.1799_splice	c.e8+1	p.K600_splice	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	600					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAATACTTACTTCTTAAGGTG	0.289000													4	38					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51486831	51486831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51486831G>A	ENST00000340438.4	+	1	351	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	37					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCGGTGGCCGAGGCCCA	0.687000													20	15					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183087260	183087260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183087260C>T	ENST00000258341.4	+	11	2226	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	657	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATCAAGATACGTGGGACATA	0.383000													32	50					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022541	58022541	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58022541G>A	ENST00000341156.4	-	8	1541	c.957C>T	c.(955-957)cgC>cgT	p.R319R	B4GALNT1_ENST00000449184.3_Silent_p.R286R|B4GALNT1_ENST00000418555.2_Silent_p.R264R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	319					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCACTAACGCGCTCTGGCT	0.612000													4	37					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720457	21720457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21720457G>A	ENST00000358491.4	+	4	1810	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E534D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363000													19	26					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75902110	75902110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75902110A>G	ENST00000274364.6	+	12	1636	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.I6V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	447					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATGCTCAAATTCAAGAAGA	0.348000													16	23					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70514019	70514019	+	Missense_Mutation	SNP	G	G	A	rs61747207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70514019G>A	ENST00000260128.4	+	10	1733	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R339H(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423000													10	208					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45937384	45937384	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45937384G>T	ENST00000532681.1	-	0	807				PEX16_ENST00000241041.3_Missense_Mutation_p.L77M|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000378750.5_Missense_Mutation_p.L77M			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16						ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCTGGGACAGCGACTGCAAG	0.612000													55	94					7.47603e-22	9.8545e-22	1	1	0
ZNF354B	117608	broad.mit.edu	37	5	178310185	178310185	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310185T>C	ENST00000322434.3	+	5	958	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTAAATGTAAAGAATGTT	0.333000													69	98					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43374622	43374622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43374622C>A	ENST00000372861.3	+	1	202	c.71C>A	c.(70-72)gCt>gAt	p.A24D	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	24						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGGCGCTGCTGTCTTCGAC	0.736000													5	4					0.0215528	0.0221649	1	1	0
PFKFB1	5207	broad.mit.edu	37	X	54984796	54984796	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54984796C>A	ENST00000375006.3	-	6	530		c.e6-1		PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Splice_Site	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGAAAAACACCTATAAAAGAA	0.408000													16	37					4.14922e-12	5.2041e-12	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468000													24	56					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79638824	79638824	+	Missense_Mutation	SNP	C	C	T	rs79563828	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79638824C>T	ENST00000329214.8	+	4	951	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	183										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGGAAAAGGCGGCAGACAGG	0.567000													9	21					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003886	74003886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74003886C>T	ENST00000301607.3	-	22	5653	c.5400G>A	c.(5398-5400)ccG>ccA	p.P1800P	EVPL_ENST00000586740.1_Silent_p.P1822P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1800	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGAGGCGAGCGGGGACTTGG	0.607000													5	70					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55907780	55907780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55907780C>T	ENST00000521992.1	-	3	475	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CES5A_ENST00000520435.1_Nonsense_Mutation_p.W81*|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000319165.9_Nonsense_Mutation_p.W81*|CES5A_ENST00000290567.9_Nonsense_Mutation_p.W81*	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	81						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAAGTTATCCCAGGGCGATG	0.592000													11	18					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129125492	129125492	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129125492G>T	ENST00000249344.2	+	21	2367	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I		NM_020704.2	NP_065755.1			striatin interacting protein 2																		GCTTTTAACAGCCGTCGCTAT	0.502000													24	71					1.17739e-12	1.48344e-12	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22134955	22134955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22134955C>T	ENST00000389398.5	+	16	1555	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	487						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGAGCTATGCGGATGTATGA	0.547000													45	79					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100198336	100198336	+	Silent	SNP	C	C	T	rs139735860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100198336C>T	ENST00000241071.6	+	10	1879	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C557C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Silent_p.C507C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	519						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGCCTGCGAGGAGTACC	0.667000													32	23					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34178815	34178815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:34178815G>A	ENST00000266483.2	+	3	706	c.387G>A	c.(385-387)caG>caA	p.Q129Q	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303000													44	65					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185089377	185089377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185089377G>T	ENST00000367506.5	-	15	2244	c.1976C>A	c.(1975-1977)tCt>tAt	p.S659Y	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	659						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCTGCTTGAGATAAATAGCA	0.323000													14	167					1.5842e-08	1.90059e-08	1	1	0
PCDHB10	0	broad.mit.edu	37	5	140574228	140574228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140574228G>A	ENST00000239446.4	+	1	2287	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGTCTTCGCTCTTCCTCC	0.706000													45	67					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25878043	25878043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25878043C>T	ENST00000376351.3	+	8	2220	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCACAATGAGCTCATCATCTC	0.398000													16	42					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135082964	135082964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135082964G>T	ENST00000428680.2	-	8	1106	c.827C>A	c.(826-828)cCt>cAt	p.P276H	CNOT4_ENST00000423368.2_Missense_Mutation_p.P279H|CNOT4_ENST00000451834.1_Missense_Mutation_p.P276H|CNOT4_ENST00000541284.1_Missense_Mutation_p.P279H|CNOT4_ENST00000315544.5_Missense_Mutation_p.P279H|CNOT4_ENST00000356162.4_Missense_Mutation_p.P279H|CNOT4_ENST00000361528.4_Missense_Mutation_p.P276H|CNOT4_ENST00000414802.1_Missense_Mutation_p.P279H	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	279					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGAATCTGAAGGTTTGTCAAT	0.323000													9	58					7.48243e-07	8.70085e-07	1	1	0
ACVRL1	94	broad.mit.edu	37	12	52314611	52314611	+	Silent	SNP	G	G	A	rs142343727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52314611G>A	ENST00000550683.1	+	9	1589	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	ACVRL1_ENST00000388922.4_Silent_p.A482A|ACVRL1_ENST00000419526.2_Silent_p.A308A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	482					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACTCACCGCGCTGCGGATCA	0.557000													13	21					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436740	66436740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66436740C>T	ENST00000341529.3	+	12	2171	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CDH5_ENST00000539168.1_Missense_Mutation_p.R114W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		caagcccccgcggcccgcgcT	0.726000													6	7					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439705	37439705	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439705C>T	ENST00000379826.4	-	5	1314	c.972G>A	c.(970-972)acG>acA	p.T324T	SMAD9_ENST00000350148.5_Silent_p.T287T|SMAD9_ENST00000399275.2_Silent_p.T324T	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	324	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTTTCTATCGTTGAGTTTC	0.408000													20	56					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726032	15726032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726032G>A	ENST00000378076.3	-	4	892	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	180					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCGGCATAGGCGCTGAAGTT	0.463000													32	36					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129805097	129805097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129805097C>A	ENST00000358825.5	-	9	1287	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	PRDM10_ENST00000304538.6_Missense_Mutation_p.E266D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E352D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E266D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E266D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E326D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCAATTCTTCTCTTGCTCTC	0.428000													9	101					1.08611e-07	1.2824e-07	1	1	0
F5	2153	broad.mit.edu	37	1	169495202	169495202	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169495202T>G	ENST00000367796.3	-	18	5869	c.5668A>C	c.(5668-5670)Aac>Cac	p.N1890H	F5_ENST00000367797.3_Missense_Mutation_p.N1885H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1885	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACCTCTGTGTTTAGGAGCCAC	0.383000													13	164					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456915	16456915	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16456915C>A	ENST00000358432.5	-	15	2630		c.e15-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCATCACCTGGCGGGGCA	0.632000													5	33					0.014758	0.0152625	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62018424	62018424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62018424G>A	ENST00000435607.1	-	24	5294	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1740W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1740	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCAGGTGCCGGCGGTAGGCC	0.642000													34	47					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279721	152279721	+	Silent	SNP	C	C	T	rs12081090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152279721C>T	ENST00000368799.1	-	3	7676	c.7641G>A	c.(7639-7641)tcG>tcA	p.S2547S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCACCTGCGAGTGTCCAG	0.582000									Ichthyosis				104	172					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124658070	124658070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124658070G>T	ENST00000325995.7	-	3	1678	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	552										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGATGTCCAGGTGTCCGTCTC	0.612000													5	62					1.6384e-10	2.02096e-10	1	1	0
KLHL20	27252	broad.mit.edu	37	1	173725148	173725148	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173725148C>A	ENST00000209884.4	+	6	1074	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KLHL20_ENST00000546011.1_Missense_Mutation_p.P124H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	313					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCACGGAAACCTATCCGATGT	0.408000													8	22					0.000157383	0.00017284	1	1	0
DRD3	1814	broad.mit.edu	37	3	113866319	113866319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113866319C>T	ENST00000383673.2	-	4	899	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	DRD3_ENST00000460779.1_Missense_Mutation_p.V157I|DRD3_ENST00000467632.1_Missense_Mutation_p.V157I|DRD3_ENST00000295881.7_Missense_Mutation_p.V157I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	157					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTACCCAGACGGCCGTGATC	0.542000													8	68					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109134	42109134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42109134C>T	ENST00000457542.2	+	14	1898	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R421W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R377W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R544W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R538W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	544										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCGGCGAGCCGGGACCGGCT	0.582000													40	64					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395629	107395629	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395629T>C	ENST00000008527.5	-	4	1375	c.508A>G	c.(508-510)Att>Gtt	p.I170V		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	170	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAAGTAATTGTCTCTACT	0.413000													16	139					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065843	110065843	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110065843C>A	ENST00000309415.6	+	8	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	682							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACGTCAGTGCCGCAAACCTCA	0.627000													9	12					1.12685e-05	1.27857e-05	1	1	0
ZNF433	163059	broad.mit.edu	37	19	12126905	12126905	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12126905A>C	ENST00000419886.2	-	5	963	c.672T>G	c.(670-672)tgT>tgG	p.C224W	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.C259W|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCTTTCCCACATTCATTAC	0.408000													4	58					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87822530	87822530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87822530G>T	ENST00000398204.4	+	29	2891	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	ADAM22_ENST00000398209.3_Missense_Mutation_p.K885N|ADAM22_ENST00000265727.7_Missense_Mutation_p.K892N|ADAM22_ENST00000315984.7_Missense_Mutation_p.K885N	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	892					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAGGACAAGAAAGTGAACC	0.428000													11	43					6.40141e-05	7.11719e-05	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4763994	4763994	+	Missense_Mutation	SNP	G	G	A	rs35263902	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4763994G>A	ENST00000266544.5	+	3	244	c.224G>A	c.(223-225)cGc>cAc	p.R75H	NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	75					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTTTTAGGACGCATGGGGTCA	0.383000													23	40					0	0	1	0	0
SSR3	6747	broad.mit.edu	37	3	156266708	156266708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156266708C>T	ENST00000265044.2	-	3	439	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SSR3_ENST00000463503.1_Silent_p.K63K|SSR3_ENST00000496050.1_Silent_p.K63K|SSR3_ENST00000476217.1_Silent_p.K115K|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000467789.1_Silent_p.K115K	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	115					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363000													4	40					0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192394	102192394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192394G>A	ENST00000218249.5	+	1	195	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	50					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGGGGGAATCGACTACAAGAC	0.607000													42	76					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078266	6078266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6078266G>A	ENST00000199389.6	-	10	1302	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	EIF2AK1_ENST00000536084.1_Silent_p.L262L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	386	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGCTCACACAGCTGCATCTGG	0.547000													31	78					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151939260	151939260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151939260G>A	ENST00000367290.5	+	11	2236	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	CCDC170_ENST00000239374.7_Missense_Mutation_p.G709D			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	709																	CACCCACAAGGCCATTTACAG	0.443000													25	36					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948475	5948475	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948475G>A	ENST00000378896.3	+	10	1404		c.e10-1		MCM8_ENST00000265187.4_Intron|MCM8_ENST00000378886.2_Splice_Site|MCM8_ENST00000378883.1_Splice_Site	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8						cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTAATTTACAGGTTCTCGAAA	0.303000													8	29					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29429587	29429587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29429587G>A	ENST00000283351.4	-	25	4012	c.3677C>T	c.(3676-3678)gCt>gTt	p.A1226V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A1172V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1226					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATCTCACAGCATCCTCTGT	0.363000													23	62					0	0	1	0	0
GPR89A	653519	broad.mit.edu	37	1	145765405	145765405	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145765405G>T	ENST00000313835.9	-	13	1268	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GPR89A_ENST00000534502.1_Silent_p.S350S|GPR89A_ENST00000462900.2_Silent_p.S350S|GPR89A_ENST00000454423.3_Silent_p.S255S			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	375					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGACATTGGAGGACTTACTGC	0.348000													75	233					3.27475e-32	4.39361e-32	1	1	0
DDX4	54514	broad.mit.edu	37	5	55075867	55075867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55075867G>A	ENST00000505374.1	+	8	562	c.470G>A	c.(469-471)cGt>cAt	p.R157H	DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.R137H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	157	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAGGTTGCCGTGGAGGATTT	0.373000													10	36					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350844	101350844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101350844G>A	ENST00000534062.1	-	1	340	c.282C>T	c.(280-282)gaC>gaT	p.D94D	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGGAGTAGGTCATTGGGTG	0.537000													14	33					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925758	28925758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925758G>A	ENST00000358201.4	-	5	1281	c.693C>T	c.(691-693)agC>agT	p.S231S	RABEP2_ENST00000544477.1_Silent_p.S160S|RABEP2_ENST00000357573.6_Silent_p.S231S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	231					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGATGGAGGCGCTGTCATCGC	0.682000													15	21					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25013964	25013964	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25013964G>A	ENST00000382114.4	-	7	998	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	271						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACCTGTAATGTTGTCATAGC	0.512000													28	60					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472371	47472371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472371C>T	ENST00000266581.4	-	2	881	c.415G>A	c.(415-417)Gag>Aag	p.E139K	AMIGO2_ENST00000429635.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E139K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	139					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTCAACTCTTGGAATACA	0.438000													41	68					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134851540	134851540	+	Silent	SNP	C	C	T	rs146289482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134851540C>T	ENST00000424142.1	-	4	734	c.132G>A	c.(130-132)tcG>tcA	p.S44S	C7orf49_ENST00000483029.2_Silent_p.S44S|C7orf49_ENST00000393114.3_Silent_p.S99S|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.S98S	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	99						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGTGTGAGGCGACACGGAGC	0.642000													59	45					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33080616	33080616	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33080616T>G	ENST00000334274.4	+	6	1150	c.750T>G	c.(748-750)ttT>ttG	p.F250L	TCP11L1_ENST00000432887.1_Missense_Mutation_p.F250L|TCP11L1_ENST00000531632.2_Missense_Mutation_p.F250L|TCP11L1_ENST00000324357.9_Missense_Mutation_p.F29L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	250										kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAGAAGTTTCAAGAGATTT	0.398000													10	157					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52492834	52492834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52492834G>A	ENST00000345716.4	+	3	468	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NISCH_ENST00000488380.1_Missense_Mutation_p.A112T|NISCH_ENST00000479054.1_Missense_Mutation_p.A112T|NISCH_ENST00000420808.2_Missense_Mutation_p.A112T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	112	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGAGTACTGGCCCACTTCTT	0.527000													33	45					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670344	99670344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99670344G>A	ENST00000336292.6	+	5	1896	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	SYNM_ENST00000560674.1_Silent_p.P307P|SYNM_ENST00000328642.7_Silent_p.P592P|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	593	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGTGTCCCCGAAAGGTTTGC	0.562000													19	17					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279658	47279658	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47279658A>G	ENST00000271153.4	+	6	731	c.695A>G	c.(694-696)cAt>cGt	p.H232R	CYP4B1_ENST00000452782.2_Missense_Mutation_p.H70R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H218R|CYP4B1_ENST00000371923.4_Missense_Mutation_p.H233R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	232					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCAGTACCATAATGACTTC	0.587000													15	125					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152702469	152702469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152702469G>A	ENST00000367255.5	-	56	9282	c.8681C>T	c.(8680-8682)gCa>gTa	p.A2894V	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2933V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2894V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2901V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2894					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGACGGCTTGCACCAATCTC	0.517000										HNSCC(10;0.0054)			13	158					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927508	95927508	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95927508C>T	ENST00000258499.3	-	2	813	c.525G>A	c.(523-525)aaG>aaA	p.K175K	USP44_ENST00000552440.1_Silent_p.K175K|USP44_ENST00000537435.2_Silent_p.K175K|USP44_ENST00000393091.2_Silent_p.K175K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	175					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTCTTCTTGCTTTTTTCTTC	0.363000													21	50					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40671969	40671969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40671969C>T	ENST00000298910.7	+	18	2205	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	LRRK2_ENST00000343742.2_Missense_Mutation_p.A716V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	716			A -> V.		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A716E(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTAGAGAGAGCGTGTGATCAG	0.368000													14	114					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18156617	18156617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18156617G>A	ENST00000327031.4	-	9	1236	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FLII_ENST00000379450.4_Silent_p.C252C|FLII_ENST00000545457.2_Silent_p.C283C|FLII_ENST00000578558.1_Silent_p.C337C|FLII_ENST00000579294.1_Silent_p.C326C	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	337	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCAGCACCTGCAGAGACTTT	0.582000													7	17					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135067917	135067917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135067917C>A	ENST00000370695.4	+	1	291	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.L34I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L86I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	86					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTCACCATTCTCACAATCTG	0.592000													12	162					3.27435e-08	3.90559e-08	1	1	0
EFNA4	1945	broad.mit.edu	37	1	155039407	155039407	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155039407T>C	ENST00000368409.3	+	2	408	c.315T>C	c.(313-315)caT>caC	p.H105H	EFNA4_ENST00000427683.2_Silent_p.H105H|EFNA4_ENST00000359751.4_Silent_p.H105H|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTTGGCCATGTTCAATTCT	0.562000													6	50					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89251812	89251812	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89251812C>T	ENST00000370521.3	+	8	1556	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	PKN2_ENST00000316005.7_Silent_p.L399L|PKN2_ENST00000370513.5_Silent_p.L399L|PKN2_ENST00000544045.1_Silent_p.L73L|PKN2_ENST00000370505.3_Silent_p.L242L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	399	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTGAAGCTCGATAATACTG	0.368000													8	44					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42609525	42609525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42609525G>A	ENST00000330333.6	+	3	950	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	BACE2_ENST00000328735.6_Missense_Mutation_p.V163I|BACE2_ENST00000347667.4_Missense_Mutation_p.V163I|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	163					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGAAGACCTCGTCACCATCCC	0.448000													14	33					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132843	153132843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153132843G>A	ENST00000370060.1	-	17	2294	c.2105C>T	c.(2104-2106)cCg>cTg	p.P702L	L1CAM_ENST00000361981.3_Missense_Mutation_p.P697L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P702L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P697L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P702L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P704L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P704L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	702	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGACCGGGCTGGGCTC	0.607000													44	96					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6250588	6250588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6250588C>T	ENST00000381434.3	+	2	219	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.S69L	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	69					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAAAGGCCTTCACTGAAAACA	0.413000													24	32					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274547	114274547	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114274547A>G	ENST00000357077.4	+	38	4826	c.4773A>G	c.(4771-4773)gaA>gaG	p.E1591E	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.E1558E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1558					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGAAGAGGAATGGGTTATTG	0.403000													19	35					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880801	64880801	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64880801C>A	ENST00000279263.7	+	4	576	c.414C>A	c.(412-414)acC>acA	p.T138T	TM7SF2_ENST00000540748.1_Silent_p.T22T|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Silent_p.T138T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	138					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTCGCCACCCTCACCGCTT	0.647000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	73					0.000157383	0.00017284	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135326876	135326876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135326876C>A	ENST00000316077.9	-	4	552	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R93I|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R111I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	111						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGCTTTCTCTGTCTTTC	0.358000													35	71					2.80507e-11	3.49135e-11	1	1	0
TPR	7175	broad.mit.edu	37	1	186292915	186292915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186292915G>A	ENST00000367478.3	-	43	6496	c.6200C>T	c.(6199-6201)gCc>gTc	p.A2067V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2067					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCGAGGGGCCTGTCTTTC	0.517000			T	NTRK1	papillary thyroid								46	88					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7401281	7401281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7401281G>T	ENST00000379834.2	+	6	1078	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	191	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACAGGAAAAGAAGTGAGCTC	0.338000													13	30					1.52009e-12	1.91418e-12	1	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70736577	70736577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70736577A>G	ENST00000370944.4	-	12	1770	c.1457T>C	c.(1456-1458)gTt>gCt	p.V486A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V451A|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	486					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCATCTGAACAAATTCTCT	0.308000													15	20					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122722468	122722468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122722468C>T	ENST00000227348.4	+	3	308	c.261C>T	c.(259-261)aaC>aaT	p.N87N		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	87	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGCCTAACGTAACCCTGC	0.448000													47	68					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131597777	131597777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131597777G>A	ENST00000436267.2	-	12	1456	c.1307C>T	c.(1306-1308)aCa>aTa	p.T436I	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.T342I|CCBL1_ENST00000320665.6_Missense_Mutation_p.T292I			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	342					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TGAGATGTCTGTGATGAGGAA	0.617000													25	40					0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1837967	1837967	+	Missense_Mutation	SNP	G	G	A	rs143322275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1837967G>A	ENST00000262302.9	+	5	635	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NUBP2_ENST00000568706.1_Missense_Mutation_p.R31H|NUBP2_ENST00000565134.1_Missense_Mutation_p.R172H|NUBP2_ENST00000565987.1_Missense_Mutation_p.R112H|NUBP2_ENST00000543305.1_Missense_Mutation_p.R31H	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	172						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GACGTGAGGCGCGAGCTGACC	0.682000													30	39					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369293	1369293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1369293C>T	ENST00000389851.4	+	9	1877	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	UVSSA_ENST00000511216.1_Missense_Mutation_p.A477V|UVSSA_ENST00000511563.1_Missense_Mutation_p.A28V|UVSSA_ENST00000507531.1_Missense_Mutation_p.A477V|UVSSA_ENST00000512728.1_Missense_Mutation_p.A28V	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	477																	CCCTCATCTGCCAGGTGACTC	0.677000													18	24					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415834	17415834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17415834C>T	ENST00000470360.1	+	10	1460	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	SLC7A2_ENST00000494857.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A448V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A449V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	409					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCTGAAGGCGCTTGTGGAC	0.507000													26	36					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909037	60909037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60909037C>T	ENST00000252999.3	-	23	2864	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	933	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTGACGTATCGGAAGACGAG	0.667000													7	12					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632736	65632736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65632736C>T	ENST00000308110.4	+	14	1796	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	MUS81_ENST00000533035.1_Missense_Mutation_p.R408C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	483					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATGCAGGTGCGCGGAGTGAG	0.647000								Homologous recombination					31	49					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682000													50	58					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068357	103068357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068357A>G	ENST00000264260.2	+	12	2105	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T364A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGATCAAACACTGAAACT	0.413000													43	53					0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1508334	1508334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1508334G>A	ENST00000381401.5	-	2	1112	c.398C>T	c.(397-399)cCg>cTg	p.P133L	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	133					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAATCCAGCGGGTACACGAA	0.662000													57	74					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18379514	18379514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18379514G>A	ENST00000265963.4	+	12	1436	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	GTF2H1_ENST00000453096.2_Missense_Mutation_p.A426T|GTF2H1_ENST00000530496.2_Missense_Mutation_p.A114T|GTF2H1_ENST00000534641.1_Missense_Mutation_p.A310T|GTF2H1_ENST00000526630.2_Missense_Mutation_p.A16T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	426					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCAAGTAGTGCTGCCAGTAG	0.428000								Nucleotide excision repair (NER)					17	24					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644280	29644280	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29644280G>A	ENST00000373779.3	+	25	3663	c.3534G>A	c.(3532-3534)ccG>ccA	p.P1178P	PTPRU_ENST00000428026.2_Silent_p.P1175P|PTPRU_ENST00000460170.2_Silent_p.P1184P|PTPRU_ENST00000356870.3_Silent_p.P1184P|PTPRU_ENST00000323874.8_Silent_p.P1184P|PTPRU_ENST00000345512.3_Silent_p.P1188P	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGTCACCCCGCCGCTGGACG	0.672000													22	21					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681191	100681191	+	Missense_Mutation	SNP	G	G	A	rs148535690		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100681191G>A	ENST00000306151.4	+	3	6558	c.6494G>A	c.(6493-6495)aGt>aAt	p.S2165N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2165	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTAACAAGTATGCCTGTC	0.468000													20	315					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471069	8471069	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8471069T>A	ENST00000381196.4	-	28	3973	c.3430A>T	c.(3430-3432)Att>Ttt	p.I1144F	PTPRD_ENST00000356435.5_Missense_Mutation_p.I1144F|PTPRD_ENST00000355233.5_Missense_Mutation_p.I733F|PTPRD_ENST00000397606.3_Missense_Mutation_p.I723F|PTPRD_ENST00000397617.3_Missense_Mutation_p.I723F|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1144F|PTPRD_ENST00000397611.3_Missense_Mutation_p.I730F|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1131F|PTPRD_ENST00000537002.1_Missense_Mutation_p.I730F|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1122F|PTPRD_ENST00000486161.1_Missense_Mutation_p.I733F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1144					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGGCACAATTATTATGTAG	0.393000										TSP Lung(15;0.13)			43	74					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3559990	3559990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3559990C>T	ENST00000046640.3	+	9	1175	c.582C>T	c.(580-582)taC>taT	p.Y194Y	CTNS_ENST00000414524.2_Silent_p.Y47Y|CTNS_ENST00000381870.3_Silent_p.Y194Y|CTNS_ENST00000441220.2_Silent_p.Y86Y|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	194					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCTCAAATACCCCAACGGAG	0.597000													24	37					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91518496	91518496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91518496A>G	ENST00000416354.1	+	27	4699	c.4627A>G	c.(4627-4629)Agt>Ggt	p.S1543G	KIF20B_ENST00000394289.2_Missense_Mutation_p.S1513G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1513G|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1473G			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1513					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAGAAAGATAGTGACCTTCA	0.338000													6	14					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6602179	6602179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6602179C>T	ENST00000321612.6	-	8	1235	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGAGCAAGACGATACACTTC	0.448000													20	40					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108165730	108165730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108165730G>A	ENST00000278616.4	+	32	5238	c.4853G>A	c.(4852-4854)cGa>cAa	p.R1618Q	ATM_ENST00000452508.2_Missense_Mutation_p.R1618Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1618					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGATCTTCGAAGACAACTG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			49	66					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878436	151878436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151878436G>A	ENST00000355193.2	-	36	6727	c.6509C>T	c.(6508-6510)aCt>aTt	p.T2170I	KMT2C_ENST00000262189.6_Missense_Mutation_p.T2170I					lysine (K)-specific methyltransferase 2C																		TGGGTCAACAGTAGTAGGCCG	0.463000													41	96					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146435905	146435905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146435905C>T	ENST00000515385.1	+	2	682	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SMAD1_ENST00000394092.2_Missense_Mutation_p.A47V|SMAD1_ENST00000302085.4_Missense_Mutation_p.A47V|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	47	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAGGTGCCATGGAGGAA	0.512000													16	17					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21327052	21327052	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21327052G>T	ENST00000377191.3	+	17	1624		c.e17-1		XRN2_ENST00000539513.1_Splice_Site|XRN2_ENST00000430571.2_Splice_Site	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCTGGTTTTAGGTTATGGGAA	0.418000													14	99					0.000151284	0.000166931	1	1	0
CCDC112	153733	broad.mit.edu	37	5	114604589	114604589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114604589T>C	ENST00000379611.5	-	9	1824	c.1537A>G	c.(1537-1539)Atc>Gtc	p.I513V	CCDC112_ENST00000512261.1_Missense_Mutation_p.I430V|CCDC112_ENST00000395557.4_Missense_Mutation_p.I430V|CCDC112_ENST00000506442.1_Missense_Mutation_p.I398V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTATGTGGGATATGTAGAAGT	0.353000													7	68					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28750624	28750624	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28750624A>C	ENST00000225719.4	+	6	1834	c.1758A>C	c.(1756-1758)ggA>ggC	p.G586G	CPD_ENST00000543464.2_Silent_p.G339G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	586	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAACTTTGGAACAGACCCTG	0.388000													18	53					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983845	44983845	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44983845G>A	ENST00000372227.1	-	6	984	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SLC35C2_ENST00000543605.1_Silent_p.A177A|SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000372229.1_Silent_p.A15A|SLC35C2_ENST00000372230.5_Silent_p.A148A|SLC35C2_ENST00000243896.2_Silent_p.A148A			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	148					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGACCCCCGGCGATGAGGA	0.607000													12	23					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20030056	20030056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20030056C>A	ENST00000377340.2	-	4	738	c.707G>T	c.(706-708)aGa>aTa	p.R236I	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R224I|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R75I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	236					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCTGTTTTTTCTTATATTATC	0.343000													13	22					4.36969e-10	5.35656e-10	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66359608	66359608	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66359608G>T	ENST00000333861.3	-	1	946	c.879C>A	c.(877-879)ccC>ccA	p.P293P		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	293										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCCTGCTGGTGGGGGCCACAG	0.607000													8	86					1.12685e-05	1.27857e-05	1	1	0
FLNA	0	broad.mit.edu	37	X	153587864	153587864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587864G>A	ENST00000422373.1	-	24	4378	c.4130C>T	c.(4129-4131)aCt>aTt	p.T1377I	FLNA_ENST00000344736.4_Missense_Mutation_p.T1377I|FLNA_ENST00000360319.4_Missense_Mutation_p.T1377I|FLNA_ENST00000369850.3_Missense_Mutation_p.T1377I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1377					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTCCACAGTGAACTTGTT	0.662000													110	190					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3238348G>A	ENST00000217939.6	-	5	5532	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483000													16	16					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150713794C>T	ENST00000377974.2	-	11	2477	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662000													8	6					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54266450	54266450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54266450G>A	ENST00000371429.3	-	11	1736	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	NDC1_ENST00000540001.1_Silent_p.L380L|NDC1_ENST00000537333.1_Silent_p.L45L|NDC1_ENST00000234725.8_Silent_p.L265L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TAGAGAATCAGTTTCTGAGTC	0.418000													30	38					0	0	1	0	0
FEM1B	10116	broad.mit.edu	37	15	68583125	68583125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68583125C>A	ENST00000306917.4	+	2	2044	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	477					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGATTCACCTTGATCCCAG	0.433000													14	109					3.45872e-05	3.88335e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179500846	179500846	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500846T>C	ENST00000589042.1	-	226	41676	c.41452A>G	c.(41452-41454)Att>Gtt	p.I13818V	TTN_ENST00000460472.2_Missense_Mutation_p.I4753V|TTN_ENST00000342992.6_Missense_Mutation_p.I11250V|TTN_ENST00000359218.5_Missense_Mutation_p.I4878V|TTN_ENST00000342175.6_Missense_Mutation_p.I4945V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12177V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCACAATCTTGCCATCC	0.512000													4	48					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996253	57996253	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996253A>G	ENST00000316770.2	-	1	137	c.95T>C	c.(94-96)tTc>tCc	p.F32S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGAGAAGGAAGAGAAGAAC	0.522000													7	109					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2828698	2828698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2828698C>T	ENST00000397885.2	-	9	1139	c.933G>A	c.(931-933)caG>caA	p.Q311Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	311	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTAGAATCTGTTTCATTT	0.358000													15	37					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59009910	59009910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009910G>T	ENST00000263093.2	-	10	2154	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SLC27A5_ENST00000594786.1_Missense_Mutation_p.A87D|SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A598D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	682					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTCACACACAGCCTGGTACAT	0.607000													7	11					1.26484e-09	1.54084e-09	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144941327	144941327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941327C>T	ENST00000525985.1	-	2	6166	c.6095G>A	c.(6094-6096)aGa>aAa	p.R2032K				P58107	EPIPL_HUMAN	epiplakin 1	2032						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCCCCGTCTGTAGGCTGT	0.602000													20	21					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814298	242814298	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242814298G>T	ENST00000343216.3	+	2	619	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	197						integral to membrane											ACCTTGGCAAGGGTGGCGTTG	0.677000													3	18					0.004672	0.0049138	1	1	0
PPP2CB	5516	broad.mit.edu	37	8	30655186	30655186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30655186A>G	ENST00000221138.4	-	3	847	c.397T>C	c.(397-399)Tgt>Cgt	p.C133R	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	133					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TTTCGCAGACATTCATCATAA	0.378000													10	56					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402558	67402558	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67402558C>T	ENST00000335385.3	-	2	271	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	62					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTCTGGACACACGTGGGTTC	0.622000													24	31					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729242	62729242	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62729242G>T	ENST00000349451.3	+	5	733	c.321G>T	c.(319-321)caG>caT	p.Q107H	OPRL1_ENST00000336866.2_Missense_Mutation_p.Q107H|OPRL1_ENST00000355631.4_Missense_Mutation_p.Q107H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	107					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTTCCAGGGCACGGACA	0.547000													48	57					2.43468e-25	3.2359e-25	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85577194	85577194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85577194C>A	ENST00000295802.4	-	4	880	c.768G>T	c.(766-768)caG>caT	p.Q256H	RETSAT_ENST00000457495.2_Missense_Mutation_p.Q195H|RETSAT_ENST00000263854.6_Missense_Mutation_p.Q256H	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	256					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGAGTACTGCCTGGAGCTCAG	0.597000													22	40					6.44725e-10	7.89499e-10	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3817888	3817888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3817888C>T	ENST00000262367.5	-	16	3892	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	CREBBP_ENST00000382070.3_Missense_Mutation_p.G990E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1028					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGAAGCTCCTTGCAAATC	0.383000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						47	88					0	0	1	0	0
SSTR2	0	broad.mit.edu	37	17	71165681	71165681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71165681A>C	ENST00000357585.2	+	2	592	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	SSTR2_ENST00000315332.2_Missense_Mutation_p.K75Q|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCAAGATGAAGACCATCAC	0.483000													10	54					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127680187	127680187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127680187T>C	ENST00000508053.1	-	31	4207	c.3233A>G	c.(3232-3234)aAa>aGa	p.K1078R	FBN2_ENST00000508989.1_Missense_Mutation_p.K1045R|FBN2_ENST00000262464.4_Missense_Mutation_p.K1078R			P35556	FBN2_HUMAN	fibrillin 2	1078	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGAAATGCTTTGCATTCATT	0.398000													15	86					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802201	33802201	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33802201A>C	ENST00000260908.7	-	4	1625	c.1508T>G	c.(1507-1509)aTt>aGt	p.I503S	SLFN12L_ENST00000449046.1_Missense_Mutation_p.I534S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.I532S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	535						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTAACCACCAATTTTTGCCAG	0.403000													24	53					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	157014177	157014177	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157014177G>T	ENST00000368194.3	-	0	985				ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCTTGATCAGGATTGAATCG	0.473000													16	137					3.52763e-06	4.04633e-06	1	1	0
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139090653C>A	ENST00000333188.5	-	10	1298	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433000													18	33					1.00905e-13	1.28195e-13	1	1	0
HERC2P9	0	broad.mit.edu	37	15	28929371	28929371	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28929371G>T	ENST00000528584.1	+	0	1908					NR_036443.1																						GGAAGGAAAAGGCACACGCTG	0.453000													4	37					1	1	1	1	0
NRAP	4892	broad.mit.edu	37	10	115401192	115401192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115401192G>A	ENST00000369358.4	-	13	1499	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NRAP_ENST00000360478.3_Missense_Mutation_p.R384C|NRAP_ENST00000359988.3_Missense_Mutation_p.R419C|NRAP_ENST00000369360.3_Missense_Mutation_p.R384C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTCATAGCGGCCTCTCATG	0.438000													16	46					0	0	1	0	0
IGLV2-18	0	broad.mit.edu	37	22	23077525	23077525	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23077525C>A	ENST00000390310.2	+	0	315																											GGGCTCCAGGCTGAGGACGAG	0.547000													45	95					5.34276e-22	7.04553e-22	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32261804	32261804	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32261804T>C	ENST00000375015.4	-	26	843	c.643A>G	c.(643-645)Aca>Gca	p.T215A	C6orf10_ENST00000527965.1_Missense_Mutation_p.T200A|C6orf10_ENST00000533191.1_Missense_Mutation_p.T214A|C6orf10_ENST00000375007.4_Missense_Mutation_p.T214A|C6orf10_ENST00000442822.2_Missense_Mutation_p.T207A|C6orf10_ENST00000447241.2_Missense_Mutation_p.T216A			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	216						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTAACCTGTTAATATAACT	0.343000													8	84					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138588381	138588381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138588381G>A	ENST00000440172.1	-	8	3670	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1208W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1158W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1208						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCCACATCCGCCTTCTGGTG	0.572000			O	BRAF	pilocytic astrocytoma								16	11					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295646	119295646	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119295646A>C	ENST00000338891.7	-	14	3305	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTATTAAAATCTGCCCGCA	0.343000													90	137					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774017	183774017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774017A>T	ENST00000318351.1	+	4	366	c.332A>T	c.(331-333)aAt>aTt	p.N111I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	111						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTTGGCATCAATAAACTCACA	0.502000													8	84					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12038938	12038938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12038938C>T	ENST00000396373.4	+	7	1505	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	411						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGAAGGAGCCAGGACAAAG	0.448000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								48	76					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112667	18112667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18112667A>G	ENST00000403915.1	+	3	843	c.392A>G	c.(391-393)aAg>aGg	p.K131R	KCNS3_ENST00000304101.4_Missense_Mutation_p.K131R|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	131					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCACGAGAAGGACTGGGAC	0.493000													3	48					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10228126	10228126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10228126T>A	ENST00000315330.4	-	4	582	c.520A>T	c.(520-522)Aag>Tag	p.K174*	CLEC1A_ENST00000420265.2_Nonsense_Mutation_p.K82*|CLEC1A_ENST00000457018.2_Nonsense_Mutation_p.K141*	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	174	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TTGTTTATCTTCAGCATGGTA	0.378000													33	66					0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981014	2981014	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2981014A>C	ENST00000380542.4	-	9	872	c.732T>G	c.(730-732)atT>atG	p.I244M	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I244M	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	244					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CACAGTCCACAATCTCAGGAC	0.373000													18	46					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11979032	11979032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11979032A>G	ENST00000304030.2	+	3	1348	c.1148A>G	c.(1147-1149)aAa>aGa	p.K383R	ZNF439_ENST00000455282.1_Missense_Mutation_p.K247R|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAACCGTATAAATGCAAGCAA	0.418000													5	50					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128900742	128900742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128900742G>A	ENST00000375990.3	+	17	2125	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P	UGGT1_ENST00000259253.6_Silent_p.P598P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353000													41	59					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160551	132160551	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132160551T>C	ENST00000511190.1	-	6	2167	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	USP26_ENST00000406273.1_Silent_p.E566E|USP26_ENST00000370832.1_Silent_p.E566E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTAATTTCTCCATCCT	0.393000													6	92					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572622	25572622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25572622G>A	ENST00000269141.3	-	9	1764	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	CDH2_ENST00000399380.3_Silent_p.V416V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	447	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTACTTTGACCACGGTGA	0.527000													6	45					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100088895	100088895	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100088895A>C	ENST00000375202.2	+	29	3089	c.1737A>C	c.(1735-1737)gaA>gaC	p.E579D	CCDC180_ENST00000411667.2_Missense_Mutation_p.E576D|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E579D|CCDC180_ENST00000357054.1_Missense_Mutation_p.E718D|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GTGACAAAGAAACACTGGCGT	0.512000													12	157					0	0	1	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38124795	38124795	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38124795T>C	ENST00000529359.1	-	4	528	c.330A>G	c.(328-330)ggA>ggG	p.G110G	PPAPDC1B_ENST00000531823.1_Silent_p.G19G|PPAPDC1B_ENST00000422581.2_Silent_p.G151G|PPAPDC1B_ENST00000419686.2_Silent_p.G151G|PPAPDC1B_ENST00000424479.2_Silent_p.G151G			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	151	Phosphatase sequence motif I.				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGAAGAATGTCCACTGGGGA	0.453000													25	31					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916866	45916866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45916866G>A	ENST00000407215.3	-	4	581	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCRN2_ENST00000290216.9_Missense_Mutation_p.T167I|SCRN2_ENST00000584123.1_Missense_Mutation_p.T175I			Q96FV2	SCRN2_HUMAN	secernin 2	167					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCACGCCTCAGTGCGGTCAGC	0.607000													6	96					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40800154	40800154	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40800154A>G	ENST00000358268.2	-	4	794	c.266T>C	c.(265-267)gTg>gCg	p.V89A	LCA5L_ENST00000288350.3_Missense_Mutation_p.V89A|LCA5L_ENST00000380671.2_Missense_Mutation_p.V89A|LCA5L_ENST00000485895.2_Missense_Mutation_p.V89A			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTCTTTTACCACAGGCTGCTT	0.323000													41	71					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204828	66204828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66204828C>A	ENST00000310999.7	-	3	399	c.306G>T	c.(304-306)cgG>cgT	p.R102R	MRPL11_ENST00000329819.4_Silent_p.R102R|MRPL11_ENST00000430466.2_Silent_p.R76R|MRPL11_ENST00000524576.1_5'UTR	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	102					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CACCTGTTTGCCGGGCCCCCT	0.507000													8	39					0.0381472	0.0390147	1	1	0
PPP1R2	5504	broad.mit.edu	37	3	195256664	195256664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195256664G>A	ENST00000328432.3	-	2	521	c.161C>T	c.(160-162)gCg>gTg	p.A54V		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	54	Required for binding PPP1CC (By similarity).				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGATACGTCGCCAAGATGTT	0.353000													27	62					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025238	202025238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202025238C>A	ENST00000309955.2	+	9	1392	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I|CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	293	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L293V(1)|p.L293I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498000													56	112					6.56871e-35	8.83534e-35	1	1	0
HHIP	64399	broad.mit.edu	37	4	145635498	145635498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145635498T>C	ENST00000296575.3	+	9	2200	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	515						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGATCGTAATGGGTAGGTTT	0.388000													15	28					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682811	7682811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7682811G>A	ENST00000446248.2	+	19	3800	c.3699G>A	c.(3697-3699)tcG>tcA	p.S1233S	CAMSAP3_ENST00000160298.4_Silent_p.S1206S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1206	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGTACAACTCGGACCGCAAGC	0.632000													19	23					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43014188	43014188	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43014188G>A	ENST00000458501.2	+	4	577		c.e4+1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTAACCTTCGTACGTATATG	0.393000													8	23					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122447187	122447187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122447187G>A	ENST00000474629.2	+	17	5415	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1717	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATTTTGCTGTCAATGCCAA	0.373000													34	51					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112357911	112357911	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112357911A>C	ENST00000361804.4	+	20	2257	c.2131A>C	c.(2131-2133)Att>Ctt	p.I711L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	711					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAATAATGAAATTGATCAGTT	0.323000													9	81					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122774696G>T	ENST00000227349.2	+	3	705	c.408G>T	c.(406-408)aaG>aaT	p.K136N	C11orf63_ENST00000531316.1_Missense_Mutation_p.K136N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K136N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	136										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512000													70	162					2.18329e-32	2.92945e-32	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61305127	61305127	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61305127A>G	ENST00000341074.5	-	8	1114	c.999T>C	c.(997-999)ttT>ttC	p.F333F	SERPINB4_ENST00000356424.6_Silent_p.F281F	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGACCTCCACAAAGGCCTTGT	0.488000													4	86					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017043	12017043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12017043T>C	ENST00000196061.4	+	7	740	c.713T>C	c.(712-714)gTc>gCc	p.V238A	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.V285A	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	238					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCTCCCGGTCCTGATCCAT	0.607000													7	67					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136970	91136970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91136970G>T	ENST00000420329.2	+	3	481	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	CRTC3_ENST00000268184.6_Missense_Mutation_p.D112Y|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	112					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGGTCTGGGGACAAGCCAGG	0.502000			T	MAML2	salivary gland mucoepidermoid								18	38					5.35267e-07	6.25286e-07	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128877980	128877980	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128877980T>C	ENST00000375990.3	+	9	1254	c.851T>C	c.(850-852)cTt>cCt	p.L284P	UGGT1_ENST00000259253.6_Missense_Mutation_p.L308P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	308					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAAGCATCTTGTAGAGAGC	0.403000													6	201					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254125	39254125	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39254125A>G	ENST00000333822.4	-	1	268	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCTGGACACACAGCAGCT	0.667000													13	11					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47343308	47343308	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47343308T>C	ENST00000426342.1	-	13	2385	c.1639A>G	c.(1639-1641)Aga>Gga	p.R547G	MDGA2_ENST00000439988.2_Missense_Mutation_p.R776G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.R845G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368000													5	82					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210177	28210177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28210177C>A	ENST00000284984.2	-	9	3079	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	875	TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCAGTCTTCTCTGCCAACCCA	0.478000													18	83					1.33834e-09	1.62941e-09	1	1	0
LTBP2	4053	broad.mit.edu	37	14	75078499	75078499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75078499G>A	ENST00000261978.4	-	1	535	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50V|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTCGATTCGCGTCTCCACC	0.692000													4	8					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43143694	43143694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43143694C>T	ENST00000265354.4	+	3	1389	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	SRF_ENST00000457278.2_Missense_Mutation_p.T140I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	344					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCAGCTTCACCCTCATGCCT	0.587000													13	21					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49869458	49869458	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49869458A>G	ENST00000331456.2	-	11	1041	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	TRAIP_ENST00000469027.1_Missense_Mutation_p.F155L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	310	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCACGGAAGGATGGCCGG	0.552000													7	63					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729277	3729277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3729277C>T	ENST00000315677.3	-	7	2044	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	DLGAP1_ENST00000400145.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.M191I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.M483I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.M181I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000581527.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000534970.1_Missense_Mutation_p.M195I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.M189I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	483					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCAGCCGGGCATGGGCAGGT	0.652000													7	22					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801943	222801943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222801943G>A	ENST00000344922.5	+	4	1406	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MIA3_ENST00000344507.1_Missense_Mutation_p.E461K|MIA3_ENST00000344441.6_Missense_Mutation_p.E461K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	461					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTAAACGCAGAACATCACAT	0.393000													19	121					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615173	13615173	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13615173C>T	ENST00000040738.5	-	5	1422	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	429	Lys-rich.		T -> M (in dbSNP:rs2035820).				DNA binding	p.T429T(1)									TGCTATCAGACGTTACAACTT	0.383000													30	61					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805040	68805040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805040G>A	ENST00000355237.2	+	3	559	c.123G>A	c.(121-123)caG>caA	p.Q41Q	OCLN_ENST00000380766.2_Silent_p.Q41Q|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Silent_p.Q41Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	41					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGCTCTCTCAGCCAGCCTACT	0.408000													37	72					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328811	152328811	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152328811G>T	ENST00000388718.5	-	3	1523	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	484	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGACCCATGTTG	0.527000													104	123					2.91292e-72	3.94406e-72	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75843580	75843580	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75843580C>A	ENST00000322507.8	-	33	5967	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	COL12A1_ENST00000416123.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000345356.6_Missense_Mutation_p.E722D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1886	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACCAGTTCCTCTGGACCAC	0.433000													15	26					1.3612e-06	1.57881e-06	1	1	0
PARL	55486	broad.mit.edu	37	3	183585821	183585821	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183585821G>A	ENST00000317096.4	-	2	213	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PARL_ENST00000311101.5_Silent_p.C51C|PARL_ENST00000435888.1_Silent_p.C51C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	51					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAATCCGCATTTTTGTT	0.423000													30	39					0	0	1	0	0
NEIL2	252969	broad.mit.edu	37	8	11637279	11637279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11637279C>T	ENST00000284503.6	+	3	910	c.311C>T	c.(310-312)tCt>tTt	p.S104F	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Missense_Mutation_p.S104F|NEIL2_ENST00000436750.3_Missense_Mutation_p.S104F|NEIL2_ENST00000403422.3_Missense_Mutation_p.S43F	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	104					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCTCACGGTCTGCAGAGCTC	0.602000								Base excision repair (BER), DNA glycosylases					32	48					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217042	43217042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43217042G>A	ENST00000255226.6	+	6	1554	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SLC14A2_ENST00000586448.1_Silent_p.L246L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	246						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCACCTTGTACCTTGCAG	0.512000													15	155					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369301	82369301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:82369301T>C	ENST00000509081.1	-	5	794	c.573A>G	c.(571-573)ccA>ccG	p.P191P	RASGEF1B_ENST00000335927.7_Silent_p.P150P|RASGEF1B_ENST00000264400.2_Silent_p.P192P			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTATAGACTGTGGCTTGGTCT	0.502000													43	115					0	0	1	0	0
CYSLTR1	0	broad.mit.edu	37	X	77528525	77528525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528525G>A	ENST00000373304.3	-	3	1011	c.719C>T	c.(718-720)gCt>gTt	p.A240V		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	240					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAAAAAGGCAGCGGTCACGAC	0.343000													48	51					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95228754T>A	ENST00000375544.3	-	4	730	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	ASPN_ENST00000395538.3_Missense_Mutation_p.S163C|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.S163C	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373000													10	126					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633214	633214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633214G>A	ENST00000026218.5	+	10	1951	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	621					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGCAGATGTGGGGGTGGC	0.642000													54	146					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606128	82606128	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82606128C>G	ENST00000518568.1	-	1	2281	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	360						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAGGAAGAGGCAGCGTACAAA	0.408000													23	40					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103312275	103312275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312275G>T	ENST00000520539.1	-	23	3665	c.3059C>A	c.(3058-3060)cCc>cAc	p.P1020H	UBR5_ENST00000220959.4_Missense_Mutation_p.P1020H|UBR5_ENST00000521922.1_Missense_Mutation_p.P1014H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1020					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTATGGGGGGTGAAAC	0.478000													9	117					3.86212e-05	4.30401e-05	1	1	0
DEAF1	10522	broad.mit.edu	37	11	686916	686916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:686916C>T	ENST00000382409.3	-	5	1230	c.746G>A	c.(745-747)aGt>aAt	p.S249N	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	249	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCAGTCCTTACTGCTGGCTCT	0.602000													5	39					0	0	1	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24621172	24621172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24621172G>A	ENST00000558468.1	+	3	526	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RNF31_ENST00000382687.3_Missense_Mutation_p.V550M|RNF31_ENST00000324103.6_Missense_Mutation_p.V701M|RNF31_ENST00000559275.1_Missense_Mutation_p.V550M																							GGAGTGTGCCGTGTGTGGCTG	0.602000													11	22					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643864	53643864	+	Silent	SNP	G	G	A	rs151303414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53643864G>A	ENST00000452676.2	-	5	2646	c.2220C>T	c.(2218-2220)tgC>tgT	p.C740C	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C740C|ZNF347_ENST00000334197.7_Silent_p.C739C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTGCATTTGTAAG	0.428000													71	110					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74650486	74650486	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74650486C>T	ENST00000287936.4	+	12	1683	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	HMGCR_ENST00000511206.1_Silent_p.L509L|HMGCR_ENST00000343975.5_Silent_p.L509L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	509	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTCTTCTCTCCAGTACCTAC	0.378000													27	32					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	771345	771345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:771345C>T	ENST00000319863.8	-	6	553	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PDDC1_ENST00000524550.1_Missense_Mutation_p.A142T|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.A128T|PDDC1_ENST00000397472.2_Missense_Mutation_p.A178T|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	178						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGCAGGCGCCCGAATCC	0.697000													6	12					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107420134	107420134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107420134C>A	ENST00000394872.2	-	28	2857	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.G876*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G875*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G875*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	876	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTCAGTCCTACTAGGCCT	0.537000									Alport syndrome with Diffuse Leiomyomatosis				18	213					1.00905e-13	1.28195e-13	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238277674	238277674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238277674C>T	ENST00000295550.4	-	10	4884	c.4432G>A	c.(4432-4434)Gtg>Atg	p.V1478M	COL6A3_ENST00000347401.3_Missense_Mutation_p.V1277M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1272M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1272M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V871M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1478	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAACTGCACGACCCCAACT	0.527000													15	27					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27275942	27275942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27275942C>T	ENST00000360131.4	+	2	275	c.116C>T	c.(115-117)gCg>gTg	p.A39V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A39V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	39				GAS -> CLL (in Ref. 5; AAI31499).	protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGGGCGTCAGCCCTG	0.542000													26	30					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	977142	977142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:977142G>A	ENST00000448903.2	+	5	662	c.521G>A	c.(520-522)cGc>cAc	p.R174H	AP2A2_ENST00000534328.1_Missense_Mutation_p.R174H|AP2A2_ENST00000332231.5_Missense_Mutation_p.R174H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	174					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTGCTGCGCCTGTACAGG	0.587000													8	21					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16650315	16650315	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16650315T>C	ENST00000306999.2	-	6	848	c.605A>G	c.(604-606)gAt>gGt	p.D202G		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	202						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACAAATCAAATCCATCACTCT	0.383000													10	118					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776885	76776885	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776885G>T	ENST00000373344.5	-	33	7281	c.7067C>A	c.(7066-7068)gCt>gAt	p.A2356D	ATRX_ENST00000395603.3_Missense_Mutation_p.A2318D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2356					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTTACTACAGCTGAAATTAT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	68					2.0095e-06	2.31757e-06	1	1	0
RP11-85G18.6	0	broad.mit.edu	37	10	27536594	27536594	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27536594C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTTTCCACCTCTTTGAAGTGC	0.532000													5	20					0.0215528	0.0221649	1	1	0
PHF11	51131	broad.mit.edu	37	13	50087244	50087244	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50087244C>A	ENST00000357596.3	+	4	425	c.149C>A	c.(148-150)cCt>cAt	p.P50H	PHF11_ENST00000378319.3_Missense_Mutation_p.P89H|PHF11_ENST00000488958.1_Missense_Mutation_p.P50H	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCACTTAATCCTGATAGAAGT	0.363000													4	43					0.00909568	0.00947522	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133358811	133358811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133358811G>A	ENST00000260810.5	-	13	2356	c.2225C>T	c.(2224-2226)aCt>aTt	p.T742I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	742					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACCTTCTTTAGTTGAATTTTC	0.363000								Other conserved DNA damage response genes					16	25					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746765	64746765	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64746765A>C	ENST00000543942.2	-	2	950	c.324T>G	c.(322-324)tcT>tcG	p.S108S	C12orf56_ENST00000333722.5_Silent_p.S108S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	108										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACGGTTGAAGAATAGATGA	0.338000													5	57					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201531428	201531428	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201531428G>C	ENST00000374700.2	+	32	3803	c.3562G>C	c.(3562-3564)Gtc>Ctc	p.V1188L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1188					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAGACATTGTCATGGATGT	0.383000													7	53					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014145	27014145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27014145G>A	ENST00000314616.6	+	22	3023	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V914I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	914					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGACAGGCCGTCTCCCTGGC	0.542000													55	72					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31646976	31646976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31646976C>T	ENST00000375858.3	-	2	190	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Missense_Mutation_p.R62Q|LY6G5C_ENST00000383237.4_Missense_Mutation_p.R64Q	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	64	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						CAAGAGGCATCGGTAGCAGCG	0.527000													55	92					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697416	6697416	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6697416A>T	ENST00000245907.6	-	21	2827	c.2735T>A	c.(2734-2736)gTc>gAc	p.V912D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	912					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCAGCCTTGACTTCCACTTC	0.557000													8	38					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4123242	4123242	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4123242C>T	ENST00000300738.5	+	2	243	c.39C>T	c.(37-39)gtC>gtT	p.V13V	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	13	ATP-cone.|Allosteric activator binding (By similarity).				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAACGAGTCATGTTTGACA	0.318000													5	62					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786167	112786167	+	Missense_Mutation	SNP	G	G	A	rs149131360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112786167G>A	ENST00000295408.4	+	19	2983	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	MERTK_ENST00000409780.1_Missense_Mutation_p.R733H|MERTK_ENST00000421804.2_Missense_Mutation_p.R909H			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	909					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCACTCCCCGCGCTGCCATC	0.562000													4	73					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168149937	168149937	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168149937C>T	ENST00000519560.1	-	22	2831		c.e22+1		SLIT3_ENST00000332966.8_Splice_Site|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTACTCACAGAGTGGAGA	0.488000													4	82					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118939909	118939909	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118939909A>G	ENST00000300793.6	+	2	232	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	64					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCCTGCACATATGGAAGGCCA	0.438000													10	146					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122526096	122526096	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122526096A>G	ENST00000334010.7	-	1	717	c.296T>C	c.(295-297)tTc>tCc	p.F99S	CADPS2_ENST00000313070.7_Missense_Mutation_p.F99S|CADPS2_ENST00000449022.2_Missense_Mutation_p.F99S|CADPS2_ENST00000412584.2_Missense_Mutation_p.F99S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	99					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTGGCGTTGAAGGGGTACGC	0.662000													6	21					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193350	27193350	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:27193350G>A	ENST00000335625.5	+	11	2247	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	GABRA5_ENST00000355395.5_Silent_p.P453P|GABRA5_ENST00000400081.3_Silent_p.P453P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGGGAGCCGGTGATAAAAG	0.468000													9	10					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100616003	100616003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100616003G>T	ENST00000305631.5	-	2	702	c.127C>A	c.(127-129)Ctc>Atc	p.L43I	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	43					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCACTTGAGGCGCGGGTCT	0.697000													5	17					0.000602214	0.000649039	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165202	26165202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26165202G>A	ENST00000335473.7	+	4	1569	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MYO18B_ENST00000536101.1_Missense_Mutation_p.S440N|MYO18B_ENST00000407587.2_Missense_Mutation_p.S440N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	440						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCCAGGAAGCCGTGGGCAG	0.632000													4	5					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30980986	30980986	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30980986G>A	ENST00000295055.8	-	8	968	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.G264G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	264	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTCCCAGCCCCTTCGGT	0.512000													4	10					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151163978G>T	ENST00000282466.3	-	4	3790	c.3791C>A	c.(3790-3792)tCt>tAt	p.S1264Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458000													46	83					1.6237e-14	2.07233e-14	1	1	0
INTS10	55174	broad.mit.edu	37	8	19675794	19675794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19675794G>A	ENST00000397977.3	+	2	536	c.138G>A	c.(136-138)atG>atA	p.M46I	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	46					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGTATGAGATGTACACCATCG	0.587000													31	82					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614600	3614600	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3614600C>T	ENST00000301749.7	-	0	743				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCGCCCCCGCGGGTGGCCTC	0.711000													16	24					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778569	84778569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84778569G>T	ENST00000219473.7	+	4	595	c.482G>T	c.(481-483)aGc>aTc	p.S161I	USP10_ENST00000570191.1_Missense_Mutation_p.S165I|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	161					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGATATTACAGCTATTTGAAA	0.478000													6	32					0.00198382	0.00210581	1	1	0
VWA8	23078	broad.mit.edu	37	13	42161672	42161672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42161672G>A	ENST00000379310.3	-	42	5315	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CATAGTTCTCGAAGGCTTCCA	0.478000													20	35					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160074022	160074022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160074022G>A	ENST00000263635.6	+	20	3496	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T	TANC1_ENST00000454300.1_Missense_Mutation_p.A981T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1087						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGCCGCCGCAGGAAGAGG	0.552000													42	82					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203986	119203986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119203986C>A	ENST00000296498.3	-	12	2602	c.2320_splice	c.e12+1	p.G774_splice		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	774	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TATGCCTTACCTGTGTCACCC	0.433000													54	428					4.17463e-26	5.55879e-26	1	1	0
C9orf172	389813	broad.mit.edu	37	9	139741107	139741107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741107C>T	ENST00000436881.1	+	1	2241	c.2241C>T	c.(2239-2241)cgC>cgT	p.R747R		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747										endometrium(2)|large_intestine(1)|lung(6)	9						TCCTGTCGCGCGGCCGCGGCG	0.687000													3	10					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82933169	82933169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82933169T>C	ENST00000306270.7	-	8	1661	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R	IBTK_ENST00000510291.1_Missense_Mutation_p.K371R|IBTK_ENST00000503631.1_Missense_Mutation_p.K371R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	371					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAAGCCATCTTCTTGCACTG	0.368000													6	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179581942	179581942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179581942C>T	ENST00000589042.1	-	88	25743	c.25519G>A	c.(25519-25521)Gta>Ata	p.V8507I	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7263I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8190I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8190	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCTACCAAAGTCATC	0.458000													13	30					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913227	6913227	+	Nonsense_Mutation	SNP	G	G	A	rs148113613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6913227G>A	ENST00000299459.2	-	1	603	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTACTGCCTCGGTAGGGTAGC	0.493000													22	33					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862681	7862681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7862681G>A	ENST00000283147.6	+	4	1313	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	385					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACAGAGTCGTAATCGCTCT	0.597000													13	41					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489728	74489728	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489728G>A	ENST00000333421.6	-	2	380	c.269C>T	c.(268-270)gCg>gTg	p.A90V	ABHD17B_ENST00000377041.2_Missense_Mutation_p.A90V	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		AGTGTATTTCGCATTGGGTGA	0.363000													13	115					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46895013	46895013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46895013G>A	ENST00000378623.1	-	29	4603	c.4361C>T	c.(4360-4362)gCg>gTg	p.A1454V	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTGGACGCCTCAATGGT	0.572000													27	27					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006603	74006603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74006603G>A	ENST00000301607.3	-	22	2936	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R917*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	895	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGTCCTTCGGATGTCCTCA	0.587000													13	15					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160156009	160156009	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160156009T>G	ENST00000309784.4	-	3	1148	c.963A>C	c.(961-963)gaA>gaC	p.E321D	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	321						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACTTCCTTTTCATCCTTAC	0.318000													40	52					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140125904	140125904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140125904T>C	ENST00000275874.5	+	5	947	c.749T>C	c.(748-750)gTt>gCt	p.V250A	RAB19_ENST00000356407.3_Missense_Mutation_p.V203A|RAB19_ENST00000537763.1_Missense_Mutation_p.V203A			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	203					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAGCCCCGTTCTTATGGCC	0.577000													9	94					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43111732	43111732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43111732G>A	ENST00000452796.2	-	2	394	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	DCAKD_ENST00000588499.1_Missense_Mutation_p.R47W|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000342350.5_Missense_Mutation_p.R47W|DCAKD_ENST00000310604.4_Missense_Mutation_p.R47W			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	47	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACGATGCGCCGGTGGGCAGGG	0.617000													6	30					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116436105	116436105	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116436105C>A	ENST00000397752.3	+	21	4300	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	MET_ENST00000318493.6_Missense_Mutation_p.S1385Y|MET_ENST00000539704.1_Missense_Mutation_p.S237Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1367	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCGTATCCTTCTCTGTTGTCA	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				143	104					5.35463e-67	7.24852e-67	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056133	13056133	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056133G>T	ENST00000506447.1	+	19	3624	c.3544G>T	c.(3544-3546)Gcc>Tcc	p.A1182S	CEP192_ENST00000325971.8_Missense_Mutation_p.A586S|CEP192_ENST00000430049.2_Missense_Mutation_p.A707S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	777										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGGGTCAGCCACATCACA	0.532000													15	27					2.23348e-06	2.57349e-06	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133381515G>A	ENST00000204726.3	-	7	1942	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612000													26	26					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038581	139038581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403000													25	233					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45426379	45426379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45426379C>T	ENST00000321429.4	+	5	586	c.179C>T	c.(178-180)gCa>gTa	p.A60V	DUOX1_ENST00000389037.3_Missense_Mutation_p.A60V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	60	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCAGCTATGCAGATGGCGTG	0.632000													13	24					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913832	40913832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40913832G>T	ENST00000346991.5	+	11	1838	c.1448G>T	c.(1447-1449)aGt>aTt	p.S483I	CASC5_ENST00000399668.2_Missense_Mutation_p.S457I|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	483	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCATGACAGTAATTATGCT	0.358000													5	59					0.000602214	0.000649039	1	1	0
GPBAR1	151306	broad.mit.edu	37	2	219127520	219127520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219127520G>A	ENST00000522678.1	+	2	941	c.73G>A	c.(73-75)Gca>Aca	p.A25T	GPBAR1_ENST00000521462.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000479077.1_Missense_Mutation_p.A25T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGCCCTGGCAAGCCTCAT	0.672000													8	7					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90161406	90161406	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90161406T>G	ENST00000268138.7	+	17	3089	c.2984T>G	c.(2983-2985)aTt>aGt	p.I995S	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.I994S					TOPBP1-interacting checkpoint and replication regulator																		GGTCCTGATATTGGTGTTGTT	0.413000													8	324					0	0	1	0	0
CHEK2P2	0	broad.mit.edu	37	15	20488798	20488798	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20488798G>T	ENST00000555186.1	+	0	281					NR_038836.1																						TCTCTCATGAGAACTTTATGT	0.418000													19	73					5.35267e-07	6.25286e-07	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56363645	56363645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56363645C>T	ENST00000301295.6	+	2	621	c.199C>T	c.(199-201)Caa>Taa	p.Q67*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q67*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	67	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGAACAACAAGCTTGGAA	0.448000													26	38					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134239705	134239705	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239705A>C	ENST00000535456.2	+	11	1222	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	GLB1L2_ENST00000389881.3_Missense_Mutation_p.D345A|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D345A|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	345					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCAGACTATGATGCTGTGCTG	0.552000													12	118					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080348	104080348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104080348G>A	ENST00000265148.3	-	22	2509	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	CENPE_ENST00000380026.3_Missense_Mutation_p.T782I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	807					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CGACTGTGTAGTTGCTAGGTC	0.333000													33	45					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697474	111697474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111697474C>T	ENST00000435970.1	-	15	2666	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	REV3L_ENST00000368805.1_Missense_Mutation_p.R695H|REV3L_ENST00000358835.3_Missense_Mutation_p.R695H|REV3L_ENST00000368802.3_Missense_Mutation_p.R695H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	695					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGGGTGACGGTGCATATG	0.313000								DNA polymerases (catalytic subunits)					20	32					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37120417	37120417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37120417G>T	ENST00000274258.7	-	49	9330	c.5743C>A	c.(5743-5745)Cta>Ata	p.L1915I	C5orf42_ENST00000425232.2_Missense_Mutation_p.L3017I|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.L3017I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3017										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTTATTAGAAAACTGTGA	0.368000													4	37					0.00024832	0.0002712	1	1	0
SLC47A2	146802	broad.mit.edu	37	17	19610012	19610012	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19610012G>T	ENST00000350657.5	-	9	964	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L300I	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	300						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CAGATCATGAGCATGCTGGGG	0.627000													22	51					6.21321e-17	8.03594e-17	1	1	0
ADIPOR1	51094	broad.mit.edu	37	1	202917539	202917539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202917539C>A	ENST00000340990.5	-	3	449	c.151G>T	c.(151-153)Gag>Tag	p.E51*	ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E51*|ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E51*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	51					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTTTGCTCTTCTTCAGCC	0.502000													24	26					5.45024e-15	6.98109e-15	1	1	0
ALCAM	214	broad.mit.edu	37	3	105253607	105253607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105253607G>A	ENST00000306107.5	+	6	1148	c.648G>A	c.(646-648)atG>atA	p.M216I	ALCAM_ENST00000486979.2_Missense_Mutation_p.M165I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Missense_Mutation_p.M25I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M216I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	216	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATACAAATGCCATTCACCT	0.398000													42	77					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114997	168114997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168114997C>T	ENST00000409728.1	+	11	2129	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	XIRP2_ENST00000409605.1_Silent_p.D425D|XIRP2_ENST00000409756.2_Silent_p.D647D|XIRP2_ENST00000409043.1_Silent_p.D647D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.D680D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2758					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCTGAAGACACAAAGAGTA	0.358000													15	14					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76280818C>T	ENST00000263187.3	+	5	916	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313000								Mismatch excision repair (MMR)					11	61					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864544	6864544	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864544A>G	ENST00000307659.5	+	7	2890	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N812S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	812							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAGTATGTAATGAAAGTCCA	0.343000													9	67					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028726	59028726	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028726G>A	ENST00000594051.1	-	2	795	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZBTB45_ENST00000354590.3_Silent_p.A105A|ZBTB45_ENST00000600990.1_Silent_p.A105A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTGACGCGGCCGTGAGCA	0.662000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	39					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741188	48741188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48741188G>A	ENST00000285238.8	+	9	1225	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	ABCC3_ENST00000427699.1_Missense_Mutation_p.R382H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	382	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTGAAGTTTCGTACTGGGATC	0.562000													22	45					0	0	1	0	0
MED18	54797	broad.mit.edu	37	1	28660946	28660946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28660946G>T	ENST00000373842.4	+	3	301	c.92G>T	c.(91-93)aGt>aTt	p.S31I	MED18_ENST00000398997.2_Missense_Mutation_p.S31I|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	31					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGATCACAGTTTGGAAAGC	0.418000													17	164					1.33834e-09	1.62941e-09	1	1	0
FAT2	2196	broad.mit.edu	37	5	150945414	150945414	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945414G>T	ENST00000261800.5	-	1	3091	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1027	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGTGGAGATTCTCATTC	0.602000													27	28					3.28513e-13	4.1605e-13	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215819927	215819927	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215819927G>T	ENST00000272895.7	-	43	6611	c.6393_splice	c.e43+1	p.P2131_splice	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGACCTTACCGGATCATTAGG	0.343000													13	32					3.27435e-08	3.90559e-08	1	1	0
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100363487G>A	ENST00000262233.6	+	7	822	c.683G>A	c.(682-684)gGg>gAg	p.G228E	EML1_ENST00000327921.9_Missense_Mutation_p.G216E|EML1_ENST00000334192.4_Missense_Mutation_p.G247E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.G247V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443000													17	22					0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689458	60689458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60689458C>T	ENST00000227525.3	+	4	956	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	TMEM109_ENST00000536171.1_Missense_Mutation_p.R185W|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	185						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		p.R185W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCCTTCCACCCGGGCCCTGCT	0.672000													38	51					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86394808	86394808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394808C>A	ENST00000361669.2	+	2	1446	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.S114Y|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.S116Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	116					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAGGGCATCTTTGACAAAA	0.443000													82	145					2.43516e-34	3.27332e-34	1	1	0
IPO5	3843	broad.mit.edu	37	13	98654812	98654812	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98654812C>T	ENST00000261574.5	+	14	1434	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	IPO5_ENST00000539640.1_Silent_p.I275I|IPO5_ENST00000490680.1_Silent_p.I400I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	400					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAAATGAGATCGTAAATTTTG	0.393000													19	46					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834762	107834762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834762C>T	ENST00000379028.3	-	16	2044	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.C506Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.C506Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.C519Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.C525Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.C525Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	525	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTTGCAACACACGTATAAGT	0.353000													6	142					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538588	122538588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122538588C>T	ENST00000264357.5	+	10	1615	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	GRIA3_ENST00000542149.1_Silent_p.N441N|GRIA3_ENST00000371251.1_Silent_p.N441N|GRIA3_ENST00000541091.1_Silent_p.N425N|GRIA3_ENST00000371256.5_Silent_p.N441N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	441					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAGAAGAACCATGAGCAAC	0.353000													28	56					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278686	114278686	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278686T>G	ENST00000357077.4	+	38	8965	c.8912T>G	c.(8911-8913)gTt>gGt	p.V2971G	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2938G|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2938					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAAGACGTTGTAGTGGCA	0.413000													5	197					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853431	12853431	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12853431A>T	ENST00000332296.7	+	2	158	c.55A>T	c.(55-57)Aga>Tga	p.R19*		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	19										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGCTGAGAGACCAGGC	0.557000													4	95					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98736143	98736143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98736143G>T	ENST00000477737.1	+	4	663	c.459G>T	c.(457-459)gaG>gaT	p.E153D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.E153D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	153										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCTGGAGGGGGAGCTTG	0.522000													21	190					5.26018e-13	6.65277e-13	1	1	0
SCAP	22937	broad.mit.edu	37	3	47460853	47460853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460853C>T	ENST00000265565.5	-	13	2317	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	SCAP_ENST00000545718.1_Silent_p.T243T|SCAP_ENST00000441517.2_Silent_p.T380T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	635					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGCTGAAGAGCGTCGGCCAGT	0.577000													11	25					0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158384464	158384464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158384464G>A	ENST00000264265.3	-	6	854	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	214						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTGGCAGACGGCTATTATGT	0.388000													22	35					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330051	75330051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75330051G>A	ENST00000556084.2	-	1	486	c.487C>T	c.(487-489)Cca>Tca	p.P163S	PROX2_ENST00000445876.1_Missense_Mutation_p.P163S|PROX2_ENST00000556489.2_Missense_Mutation_p.P163S	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	163					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGCCTCCTGGCCCCTGAGCT	0.602000													16	16					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773414	229773414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229773414C>A	ENST00000258243.2	+	4	3190	c.3054C>A	c.(3052-3054)agC>agA	p.S1018R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1018						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAGCTGAGCTTGGTGCTCA	0.453000													20	45					0.000132079	0.000145887	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885738	88885738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885738G>T	ENST00000319675.3	-	1	558	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	154										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCACGGCACAGCTTGGAGTAT	0.552000													13	50					0.00010058	0.000111121	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25471461	25471461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25471461T>C	ENST00000329474.6	+	10	1123	c.755T>C	c.(754-756)gTg>gCg	p.V252A	LRRC16A_ENST00000377969.3_Missense_Mutation_p.V91A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	252					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAATTGGTGTTGGAAAAT	0.363000													28	47					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147824791	147824791	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147824791T>A	ENST00000513335.1	-	7	768	c.569A>T	c.(568-570)gAa>gTa	p.E190V	TTC29_ENST00000325106.4_Missense_Mutation_p.E164V|TTC29_ENST00000398886.4_Missense_Mutation_p.E190V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	164							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAACATCGTTCATAGAAGTG	0.413000													13	18					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960348	73960348	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960348A>G	ENST00000373468.1	-	3	4695	c.4044T>C	c.(4042-4044)caT>caC	p.H1348H	KIAA2022_ENST00000055682.5_Silent_p.H1348H			Q5QGS0	K2022_HUMAN	KIAA2022	1348					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATCCCCATGGTGCTCCA	0.458000													8	56					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180012259	180012259	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180012259G>A	ENST00000367607.3	+	20	4849	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1477						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGCAATACTGTATGACCACC	0.428000													9	106					0	0	1	0	0
PMS1	0	broad.mit.edu	37	2	190718693	190718693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190718693G>A	ENST00000441310.2	+	8	1084	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	PMS1_ENST00000432292.3_Missense_Mutation_p.C108Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.C108Y|PMS1_ENST00000409823.3_Missense_Mutation_p.C245Y|PMS1_ENST00000447232.2_Missense_Mutation_p.C284Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	284					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.C284F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATCTGAAATGCCTAAAGGAA	0.289000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	28					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64027527	64027527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64027527G>T	ENST00000540288.1	+	14	1655	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	PLCB3_ENST00000325234.5_Missense_Mutation_p.G451C|PLCB3_ENST00000279230.6_Missense_Mutation_p.G518C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	518					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCTGCCCAGGCCTGAGCAA	0.622000													6	18					5.9392e-07	6.91975e-07	1	1	0
DRP2	1821	broad.mit.edu	37	X	100486730	100486730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100486730C>T	ENST00000395209.3	+	3	621	c.94C>T	c.(94-96)Cga>Tga	p.R32*	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Nonsense_Mutation_p.R32*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.R32*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	32					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGCAGCCTCCGAAGCACCTG	0.542000													35	52					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390003	232390003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232390003G>T	ENST00000305141.4	-	3	1165	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGTAGAAGAAGATGCCGG	0.657000													26	41					2.12542e-12	2.67336e-12	1	1	0
HECW1	23072	broad.mit.edu	37	7	43483896	43483896	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43483896C>T	ENST00000395891.1	+	11	1730	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	HECW1_ENST00000453890.1_Silent_p.S375S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGATGGAAAGCGGCAGTGGGG	0.552000													11	32					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525644	150525644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525644C>T	ENST00000271643.4	+	5	585	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.Q117*|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.Q117*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAGGACACAGTCTCGGGG	0.667000													30	49					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324162	79324162	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79324162T>G	ENST00000428286.1	-	8	3151	c.1951A>C	c.(1951-1953)Att>Ctt	p.I651L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1010L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1010					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGAGGAGGAATGTCAGTCTCC	0.453000													12	29					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248802	20248802	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248802T>G	ENST00000315957.4	+	1	402	c.321T>G	c.(319-321)gtT>gtG	p.V107V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACACTTTGTTGGGGCTTCGG	0.473000													11	294					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145024784	145024784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145024784G>A	ENST00000322810.4	-	1	260	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	31	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R31R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCCGCCGGTCCTTCTTG	0.697000													3	2					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236855	11236855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11236855G>A	ENST00000304623.8	-	10	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	570					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473000													43	80					0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75314872	75314872	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75314872G>T	ENST00000395748.3	+	3	631	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.R140I|AREG_ENST00000502307.1_Missense_Mutation_p.R140I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	140					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			agaagaaacagaaagaagaaa	0.353000													8	9					8.00594e-06	9.12844e-06	1	1	0
SESN3	143686	broad.mit.edu	37	11	94918426	94918426	+	Silent	SNP	G	G	A	rs138689867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94918426G>A	ENST00000536441.1	-	5	1092	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SESN3_ENST00000416495.2_Silent_p.N252N|SESN3_ENST00000278499.2_Silent_p.N113N|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Silent_p.N252N|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	252					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TAACCCCAAAGTTGCTGCCTG	0.313000													89	130					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48068466	48068466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48068466C>A	ENST00000397637.1	+	5	1378	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	PRMT2_ENST00000451211.2_Missense_Mutation_p.L142M|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000397628.1_Missense_Mutation_p.L142M|PRMT2_ENST00000458387.2_Missense_Mutation_p.L142M|PRMT2_ENST00000291705.6_Missense_Mutation_p.L142M|PRMT2_ENST00000355680.3_Missense_Mutation_p.L142M|PRMT2_ENST00000440086.1_Missense_Mutation_p.L142M|PRMT2_ENST00000334494.4_Missense_Mutation_p.L142M|PRMT2_ENST00000397638.2_Missense_Mutation_p.L142M			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	142	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TAAAGTCATCCTGGACGTGGG	0.537000													8	108					0.0477658	0.0488009	1	1	0
CASP10	843	broad.mit.edu	37	2	202082435	202082435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202082435C>A	ENST00000286186.6	+	10	1975	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	CASP10_ENST00000346817.5_Missense_Mutation_p.P471T|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.P447T|CASP10_ENST00000492363.1_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACTAGTATTCCCTGTGCCCCT	0.468000													49	91					1.63038e-21	2.14664e-21	1	1	0
KCNK10	54207	broad.mit.edu	37	14	88729675	88729675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88729675G>A	ENST00000340700.5	-	2	709	c.258C>T	c.(256-258)ggC>ggT	p.G86G	KCNK10_ENST00000319231.5_Silent_p.G91G|KCNK10_ENST00000312350.5_Silent_p.G91G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	86					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGACAAGACCGCCAGTGACAA	0.562000													34	40					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488135	24488135	+	Missense_Mutation	SNP	C	C	A	rs146231810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24488135C>A	ENST00000264463.4	-	12	2511	c.2004G>T	c.(2002-2004)caG>caT	p.Q668H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	668					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAAAGGCCTGGGTGTCCT	0.458000										HNSCC(23;0.051)			4	61					0.00909568	0.00947522	1	1	0
BRAF	673	broad.mit.edu	37	7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140500184C>T	ENST00000288602.6	-	7	1018	c.958G>A	c.(958-960)Gca>Aca	p.A320T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	320					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				50	42					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18462280	18462280	+	Silent	SNP	C	C	T	rs138373358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18462280C>T	ENST00000338745.6	-	2	1914	c.180G>A	c.(178-180)tcG>tcA	p.S60S	SATB1_ENST00000493952.2_Silent_p.S60S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.S60S|SATB1_ENST00000417717.2_Silent_p.S60S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	60					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGATGGCCCGAGTGTTTTA	0.507000													9	128					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95470649	95470649	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95470649T>C	ENST00000336148.5	-	3	275	c.151A>G	c.(151-153)Aac>Gac	p.N51D	RAD54B_ENST00000297592.5_Missense_Mutation_p.N51D	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAAAGGTGTTATTAATTGCA	0.284000								Direct reversal of damage;Homologous recombination					5	49					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104416970G>A	ENST00000302424.6	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667000													10	15					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73401954	73401954	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73401954C>A	ENST00000326291.6	+	8	1337	c.999C>A	c.(997-999)cgC>cgA	p.R333R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	333				R -> C (in Ref. 3; CAA70844).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTAGTGTTCGCTGTGCTCATG	0.393000													6	63					0.0293803	0.0301098	1	1	0
PCDHB14	0	broad.mit.edu	37	5	140605187	140605187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140605187T>C	ENST00000239449.4	+	1	2110	c.2110T>C	c.(2110-2112)Tcg>Ccg	p.S704P	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S551P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTCTCGGTGCTCCT	0.706000													7	133					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7644154	7644154	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7644154G>T	ENST00000572933.1	+	11	2993	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	DNAH2_ENST00000570791.1_Missense_Mutation_p.K593N|DNAH2_ENST00000389173.2_Missense_Mutation_p.K511N|DNAH2_ENST00000082259.3_Missense_Mutation_p.K593N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	511	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGACAAGAAGGCGGTGGATC	0.572000													5	74					0.000602214	0.000649039	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314193T>C	ENST00000316077.9	-	8	1143	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290R|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537000													17	261					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148909549	148909549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148909549C>T	ENST00000262085.3	+	6	1157	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF282_ENST00000479907.1_Missense_Mutation_p.T351M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	351					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GATATTCCCACGGATCCCAAT	0.433000													4	18					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795969	43795969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43795969G>A	ENST00000291532.3	-	12	2158	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	TMPRSS3_ENST00000380399.1_Silent_p.S485S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.S400S|TMPRSS3_ENST00000398405.1_Silent_p.S398S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	401	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGGCCCCCCGCTGTCCCCCT	0.597000													59	108					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86254575	86254575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86254575G>T	ENST00000263857.6	-	34	5512	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1651M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1712					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCGAACAGGCCTGTCCCG	0.612000													32	58					3.76114e-14	4.79375e-14	1	1	0
WDR81	124997	broad.mit.edu	37	17	1634379	1634379	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1634379C>A	ENST00000409644.1	+	4	3984	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000437219.2_Silent_p.A125A|WDR81_ENST00000419248.1_Silent_p.A101A|WDR81_ENST00000309182.5_Silent_p.A277A|WDR81_ENST00000545662.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	101										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGGAGTGCCTCAGGCCCCA	0.677000													6	19					0.00198382	0.00210581	1	1	0
CACNB2	783	broad.mit.edu	37	10	18807845	18807845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18807845G>T	ENST00000396576.2	+	8	1228	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	CACNB2_ENST00000282343.8_Missense_Mutation_p.D270Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D274Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D250Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.D246Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D205Y|CACNB2_ENST00000324631.7_Missense_Mutation_p.D298Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D244Y|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	298					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGGTCACAGATATGATGCA	0.333000													10	106					0.00010058	0.000111121	1	1	0
ANO1	55107	broad.mit.edu	37	11	70017073	70017073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70017073G>A	ENST00000355303.5	+	22	2583	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ANO1_ENST00000398543.2_Missense_Mutation_p.E614K|ANO1_ENST00000531349.1_Missense_Mutation_p.E469K|ANO1_ENST00000538023.1_Missense_Mutation_p.E760K|ANO1_ENST00000530676.1_Missense_Mutation_p.E614K|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	760					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAACATCATCGAGATCCGCCT	0.592000													6	9					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45687570	45687570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45687570C>A	ENST00000310806.4	-	12	3215	c.2757G>T	c.(2755-2757)caG>caT	p.Q919H		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	919	SANT.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTATTTCCTCTGGCATTCTT	0.453000													9	100					2.17888e-05	2.45068e-05	1	1	0
RHBDL1	9028	broad.mit.edu	37	16	727827	727827	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:727827G>A	ENST00000219551.2	+	7	1119	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	RHBDL1_ENST00000352681.3_Silent_p.P299P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	364					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTCCCCGCCGCTGCCCGCCT	0.736000													3	6					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57550268	57550268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57550268C>A	ENST00000258214.2	-	7	1602	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	452										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTTCTTCACCTCAGCCTCGT	0.627000													18	20					5.03518e-11	6.25324e-11	1	1	0
BSN	8927	broad.mit.edu	37	3	49689793	49689793	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689793A>C	ENST00000296452.4	+	5	2918	c.2804A>C	c.(2803-2805)gAg>gCg	p.E935A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	935					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGACCATTGAGCTCAACAGC	0.622000													16	35					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93646192	93646192	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93646192G>A	ENST00000557479.1	+	1	273	c.105G>A	c.(103-105)cgG>cgA	p.R35R	TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACGATCCCCGGCAAGCCCCGC	0.711000													14	6					0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159849771	159849771	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159849771G>C	ENST00000393964.1	+	2	550	c.147G>C	c.(145-147)acG>acC	p.T49T	PTTG1_ENST00000520452.1_Silent_p.T49T|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.T49T			O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGGCAAAACGTTCGATGCCC	0.433000													44	51					0	0	1	0	0
TP53INP1	0	broad.mit.edu	37	8	95953126	95953126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95953126G>A	ENST00000342697.4	-	2	451	c.44C>T	c.(43-45)tCt>tTt	p.S15F	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.S15F|TP53INP1_ENST00000378776.4_Missense_Mutation_p.S15F	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	15	Poly-Ser.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GTTGGAGGAAGAACTGACTTC	0.393000													4	86					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127702084	127702084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127702084G>A	ENST00000508053.1	-	23	3262	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	FBN2_ENST00000508989.1_Missense_Mutation_p.T730I|FBN2_ENST00000262464.4_Missense_Mutation_p.T763I|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	763					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATCCACAGTGATACCTAC	0.299000													11	19					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19121087	19121087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19121087G>A	ENST00000601879.1	-	5	2212	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	SUGP2_ENST00000600377.1_Missense_Mutation_p.R653W|SUGP2_ENST00000452918.2_Missense_Mutation_p.R639W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R408W|SUGP2_ENST00000337018.6_Missense_Mutation_p.R639W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	639					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGCTCATCCGCTGCATTTCT	0.478000													15	216					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984211	41984211	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41984211G>A	ENST00000333141.5	+	1	499	c.402G>A	c.(400-402)tcG>tcA	p.S134S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGGGCCTCGCTGAACCAGT	0.562000													25	66					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458363	66458363	+	Silent	SNP	T	T	C	rs113993994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66458363T>C	ENST00000246868.2	-	3	483	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	100					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTGTGTGTGTCTTTCTTTAT	0.353000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				102	86					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921757	87921757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921757G>A	ENST00000309893.2	-	7	961	c.896C>T	c.(895-897)aCt>aTt	p.T299I		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	299					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GCCCTCATTAGTGGCCTGGAA	0.478000													4	64					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110925385	110925385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110925385G>A	ENST00000394780.3	+	2	119	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ALG13_ENST00000371979.3_Missense_Mutation_p.R36Q|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	36					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GGTTACAACCGACTTATCCTG	0.438000													62	114					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400775	43400775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400775C>A	ENST00000244533.3	+	1	1287	c.928C>A	c.(928-930)Ctt>Att	p.L310I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L353I|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	353	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAAGGTAACACTTCAGGCACG	0.592000													20	45					1.87028e-06	2.164e-06	1	1	0
TRBV5-1	0	broad.mit.edu	37	7	142021229	142021229	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142021229G>A	ENST00000390381.3	+	0	518																											GAATACTTCAGTGAGACACAG	0.522000													29	15					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688802	30688802	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30688802G>A	ENST00000215790.7	-	9	1253	c.1089C>T	c.(1087-1089)cgC>cgT	p.R363R	TBC1D10A_ENST00000403362.1_Silent_p.R275R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.R370R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGAGGTGTTCGCGCTCAATCT	0.637000													15	16					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256494	15256494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256494G>T	ENST00000378116.4	-	8	1099	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	365						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTGAAAACAGCAAGTTAATG	0.587000													15	25					6.72482e-11	8.32712e-11	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50463907	50463907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463907G>A	ENST00000447370.2	-	2	452	c.362C>T	c.(361-363)gCg>gTg	p.A121V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCTCTGCGCGTCTCTGAT	0.537000													15	22					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150932416	150932416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150932416G>T	ENST00000035307.2	+	2	2059	c.546G>T	c.(544-546)caG>caT	p.Q182H	CHPF2_ENST00000495645.1_Missense_Mutation_p.Q174H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	182						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCATCATGCAGGATGACACAT	0.602000													7	132					0.307466	0.308846	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7714488	7714488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7714488G>A	ENST00000507866.2	+	15	2006	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SORCS2_ENST00000329016.9_Missense_Mutation_p.D461N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	633						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCCGCTCCGATTGGGAGCT	0.592000													7	37					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110462832	110462832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110462832C>T	ENST00000260283.4	-	11	1296	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A312T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A315T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A312T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	338					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGCCAGAAGGCCCAGTTTATG	0.403000													30	90					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537618	1537618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537618G>A	ENST00000447419.2	-	2	520	c.495C>T	c.(493-495)ggC>ggT	p.G165G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.G160G			Q96A99	PTX4_HUMAN	pentraxin 4, long	165						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCCTGGCGCCCTGGCTGT	0.736000													6	18					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053797	89053797	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:89053797G>T	ENST00000286614.6	-	10	1997	c.1716C>A	c.(1714-1716)atC>atA	p.I572I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	572					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATAAGGCCAAGATGCAGGGAA	0.458000													8	95					0.000157383	0.00017284	1	1	0
SUV39H1	6839	broad.mit.edu	37	X	48557420	48557420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48557420C>T	ENST00000376687.3	+	2	337	c.147C>T	c.(145-147)tgC>tgT	p.C49C	SUV39H1_ENST00000453214.2_5'UTR|SUV39H1_ENST00000337852.6_Silent_p.C60C|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	49	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTACCTGTGCGATTACAAGA	0.572000													5	15					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126674846	126674846	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126674846C>A	ENST00000274473.6	+	4	418	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	MEGF10_ENST00000418761.2_Missense_Mutation_p.P51T|MEGF10_ENST00000503335.2_Missense_Mutation_p.P51T|MEGF10_ENST00000508365.1_Missense_Mutation_p.P51T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	51	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATACCCACATCCCTTTGATCA	0.358000													11	93					2.68362e-12	3.37045e-12	1	1	0
LPA	4018	broad.mit.edu	37	6	161010738	161010738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161010738G>A	ENST00000447678.1	-	25	3914	c.3794C>T	c.(3793-3795)aCg>aTg	p.T1265M	LPA_ENST00000316300.5_Missense_Mutation_p.T1265M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3773	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTTGCTCCGTTGGTGCTGA	0.448000													25	23					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050827	25050827	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25050827G>T	ENST00000260600.5	-	13	3227	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	ADCY3_ENST00000405392.1_Silent_p.L379L|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCAGGCATAGAGGTTGATGG	0.572000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	27					3.45872e-05	3.88335e-05	1	1	0
MLKL	197259	broad.mit.edu	37	16	74729471	74729471	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74729471A>G	ENST00000308807.7	-	2	648	c.185T>C	c.(184-186)aTg>aCg	p.M62T	MLKL_ENST00000306247.7_Missense_Mutation_p.M62T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	62							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAAGCGGTTCATGGCTGTGGT	0.552000													18	58					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5762885	5762885	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5762885G>A	ENST00000328090.5	+	6	723	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	33																	CGTATGCTATGTGATATAGCT	0.333000													10	68					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89808362	89808362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89808362C>T	ENST00000452027.2	-	5	914	c.721G>A	c.(721-723)Gca>Aca	p.A241T		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	241	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GAATGCTTTGCTGTTTGTACT	0.393000													39	54					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1387545	1387545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1387545C>T	ENST00000359786.5	-	2	452	c.128G>A	c.(127-129)cGt>cAt	p.R43H	MYO1C_ENST00000545534.2_Missense_Mutation_p.R19H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R8H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R24H|MYO1C_ENST00000575158.1_Missense_Mutation_p.R8H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	43	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCGGTCACGGGCGGTGAG	0.647000													8	20					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983089	11983089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983089C>T	ENST00000376572.3	-	2	1676	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	KIAA2013_ENST00000376576.3_Silent_p.V497V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	497						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCGCCAGCACGGCCAGGT	0.612000													8	24					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67805960	67805960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67805960C>T	ENST00000317506.3	-	3	492	c.377G>A	c.(376-378)gGc>gAc	p.G126D	RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000411657.2_Missense_Mutation_p.G9D|RANBP10_ENST00000602677.1_Missense_Mutation_p.G126D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Missense_Mutation_p.G126D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	126	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CATGTTGACGCCTTGAGCCGA	0.408000													13	116					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241667422	241667422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241667422C>T	ENST00000366560.3	-	7	1066	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	343					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCCAAAAATCGAATATCATT	0.448000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				15	28					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34564615	34564615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34564615C>T	ENST00000378980.3	-	4	594	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CNTFR_ENST00000351266.4_Missense_Mutation_p.V101I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	101	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGCAGCAGGACTTGGTGGCGC	0.627000													7	6					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427880	3427880	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3427880C>A	ENST00000529482.1	+	0	997																											GGGATAGCTTCACAGATCCAC	0.587000													9	4					3.09899e-07	3.63227e-07	1	1	0
LCMT1	51451	broad.mit.edu	37	16	25180518	25180518	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25180518A>C	ENST00000399069.3	+	8	931	c.776A>C	c.(775-777)aAg>aCg	p.K259T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.K204T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	259							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGACCTGCAAGTCATTAGAG	0.493000													10	107					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116191520	116191520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116191520G>T	ENST00000288462.4	+	14	1686	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	C9orf43_ENST00000374165.1_Missense_Mutation_p.A414S	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	414										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTGCCAGAAGCCCAGGCTGC	0.448000													15	125					6.72482e-11	8.32712e-11	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848361	166848361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166848361G>T	ENST00000423058.2	-	26	5441	c.5424C>A	c.(5422-5424)ttC>ttA	p.F1808L	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1780L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1797L|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1808L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1808			F -> L (in ICEGTC; dbSNP:rs121918757).|Missing (in SMEI).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAACCTCATAGAACATCTCAA	0.458000													46	65					1.19451e-25	1.58886e-25	1	1	0
STK31	56164	broad.mit.edu	37	7	23768859	23768859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23768859G>T	ENST00000354639.3	+	6	869	c.405G>T	c.(403-405)caG>caT	p.Q135H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q135H|STK31_ENST00000355870.3_Missense_Mutation_p.Q158H|STK31_ENST00000433467.2_Missense_Mutation_p.Q158H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	158	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTTACCCAGTTTGATCAGG	0.318000													5	68					5.9392e-07	6.91975e-07	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160252938	160252938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160252938G>T	ENST00000264431.4	+	9	1668	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	417	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGACAGTGTAGATTCAGGTAG	0.413000													17	124					6.49762e-13	8.19883e-13	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124171499	124171499	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171499T>C	ENST00000303372.5	+	6	809	c.681T>C	c.(679-681)ggT>ggC	p.G227G	TCTN2_ENST00000426174.2_Silent_p.G226G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	227					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGACACGTGGTGTCCCCGATT	0.542000													12	209					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110423283	110423283	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110423283T>C	ENST00000392589.1	-	10	1866	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	WASF1_ENST00000359451.2_Missense_Mutation_p.M344V|WASF1_ENST00000392586.1_Missense_Mutation_p.M344V|WASF1_ENST00000392587.2_Missense_Mutation_p.M344V|WASF1_ENST00000392588.1_Missense_Mutation_p.M344V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	344					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTTGAAGTCATTGAAGCTCTT	0.562000													40	57					0	0	1	0	0
NACAP1	0	broad.mit.edu	37	8	102381654	102381654	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102381654C>T	ENST00000419462.1	+	0	1066					NR_002182.1																						GTCGATGAAACAGGTGTAGAA	0.418000													4	53					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915368	156915368	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156915368G>T	ENST00000257527.4	-	21	2533	c.2455C>A	c.(2455-2457)Cca>Aca	p.P819T	ADAM19_ENST00000430702.2_Missense_Mutation_p.P552T|ADAM19_ENST00000517905.1_Missense_Mutation_p.P819T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P821T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	819					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGCCCTGGGGAGTTCCTA	0.647000													13	82					5.50884e-06	6.28354e-06	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87180053	87180053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87180053C>A	ENST00000265724.3	-	11	1518	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	ABCB1_ENST00000543898.1_Missense_Mutation_p.K303N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	367					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATCAATTATCTTGAAGATTT	0.368000													35	36					3.86903e-22	5.10393e-22	1	1	0
FRS3	10817	broad.mit.edu	37	6	41738413	41738413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41738413G>A	ENST00000373018.3	-	7	1674	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.R475*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	475					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCGTCTCGGGGCAGAGCT	0.632000													34	47					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511609	44511609	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44511609C>T	ENST00000372523.1	+	2	473	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ZSWIM1_ENST00000372520.1_Silent_p.A126A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	126							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAGGCCTGGCCCAGATGTTCC	0.532000													27	36					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47237959	47237959	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47237959C>T	ENST00000300404.2	+	7	961	c.902C>T	c.(901-903)aCc>aTc	p.T301I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T241I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T215I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	301					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCAGTGACCATCCGCCAT	0.527000													13	193					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787571	70787571	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70787571C>A	ENST00000373719.3	+	20	3028	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L	OGT_ENST00000373701.3_Silent_p.L927L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGATGTCCTCTGGGCAGGGA	0.517000													5	20					0.184627	0.186383	1	1	0
MTRF1	9617	broad.mit.edu	37	13	41834982	41834982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41834982C>T	ENST00000379480.4	-	2	162	c.62G>A	c.(61-63)tGt>tAt	p.C21Y	MTRF1_ENST00000430347.2_Missense_Mutation_p.C34Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.C21Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	21					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTGGATGTGACACTGGAGGTA	0.363000													19	48					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114078566	114078566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114078566C>T	ENST00000356501.4	-	6	802	c.627G>A	c.(625-627)tgG>tgA	p.W209*	ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.W291*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	291					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ACAGCTCAGTCCAGCTGTTTC	0.587000													9	20					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282892	69282892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69282892G>A	ENST00000338352.2	+	1	552	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	173	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGCGCTGCCGCACCGCCAGC	0.602000													4	13					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609105	17609105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17609105G>A	ENST00000226299.4	+	13	1727	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V454M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	485					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CATAGCAGGCGTGATGACCAA	0.448000													34	53					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809726	18809726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18809726C>T	ENST00000400664.1	+	1	2303	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGCTGCGGAGTTTCCC	0.647000													29	45					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145573764C>A	ENST00000296575.3	+	2	942	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.S96Y|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343000													15	49					1.02788e-11	1.28409e-11	1	1	0
NUP210	23225	broad.mit.edu	37	3	13378358	13378358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13378358C>T	ENST00000254508.5	-	27	3695	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1205					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGCCTGGCACGGCATTGCCA	0.617000													27	48					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847910	61847910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61847910G>T	ENST00000280772.1	-	29	3726	c.3535C>A	c.(3535-3537)Ctc>Atc	p.L1179I	ANK3_ENST00000355288.2_Missense_Mutation_p.L313I|ANK3_ENST00000503366.1_Missense_Mutation_p.L1180I|ANK3_ENST00000373827.2_Missense_Mutation_p.L1173I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1179					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTACCTGGAGGCCCACTCGA	0.463000													4	82					0.014758	0.0152625	1	1	0
VPS52	6293	broad.mit.edu	37	6	33236905	33236905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33236905C>T	ENST00000445902.2	-	6	652	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R20Q|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	145					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTGCAGTGTCCGGATCTCAGA	0.542000													74	102					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57303661	57303661	+	Silent	SNP	G	G	A	rs146152896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303661G>A	ENST00000288266.3	+	22	2223	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCAGTAGCCAGTCAGAAGAGA	0.443000													7	99					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88331704	88331704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88331704G>A	ENST00000392844.3	+	11	1206	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	ORC3_ENST00000417380.2_Silent_p.A333A|ORC3_ENST00000546266.1_Silent_p.A243A|ORC3_ENST00000257789.4_Silent_p.A386A	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	386					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCAAGTTGCGCTCTTGACCA	0.313000													7	80					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480800	7480800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7480800C>T	ENST00000293831.8	+	7	779	c.763C>T	c.(763-765)Cga>Tga	p.R255*	EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552000													25	29					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360875	42360875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360875G>A	ENST00000298119.4	+	4	2997	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	603						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCAGTGTTGTAAAGCTACC	0.488000										HNSCC(30;0.082)			12	32					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6004263	6004263	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6004263G>A	ENST00000303657.5	-	13	1598	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	RFX2_ENST00000359161.3_Silent_p.G483G|RFX2_ENST00000592546.1_Silent_p.G458G|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTGTCAACCAGCCTTCCAAGC	0.577000													50	58					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9087028	9087028	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9087028A>G	ENST00000433083.2	+	9	2217	c.2072A>G	c.(2071-2073)cAc>cGc	p.H691R	PHC1_ENST00000544916.1_Missense_Mutation_p.H736R|PHC1_ENST00000543824.1_Missense_Mutation_p.H736R|PHC1_ENST00000536844.1_Missense_Mutation_p.H342R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	736					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATTCTCACCCACATCATTGAA	0.542000													5	41					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128426321	128426321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128426321G>A	ENST00000392668.3	-	3	147	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTGTTGCTAGGTCCTTGCCTC	0.393000													23	19					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606399	6606399	+	Missense_Mutation	SNP	C	C	A	rs143914994	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6606399C>A	ENST00000433363.2	-	5	839	c.606G>T	c.(604-606)aaG>aaT	p.K202N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K202N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K185N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K159N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	202						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TACACAACCTCTTCCGCTCTT	0.637000													24	43					3.08376e-08	3.68275e-08	1	1	0
ULBP3	79465	broad.mit.edu	37	6	150386666	150386666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150386666C>A	ENST00000367339.1	-	3	524	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ULBP3_ENST00000438272.2_Missense_Mutation_p.A166S			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	166	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCGCCTGGCTCCAGCGTGA	0.512000													12	107					1.05317e-09	1.28483e-09	1	1	0
EIF4G2	1982	broad.mit.edu	37	11	10824815	10824815	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824815T>C	ENST00000526148.1	-	10	1350	c.840A>G	c.(838-840)cgA>cgG	p.R280R	EIF4G2_ENST00000525681.1_Silent_p.R280R|EIF4G2_ENST00000396525.2_Silent_p.R280R|EIF4G2_ENST00000339995.5_Silent_p.R280R	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAGCACATTCGGGCAAAGT	0.368000													3	40					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630810	12630810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630810G>A	ENST00000228862.2	-	7	1586	c.955C>T	c.(955-957)Cca>Tca	p.P319S	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	319					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTTCATTTGGCTTCTCCAGG	0.542000													30	58					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143810334	143810334	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143810334T>G	ENST00000367591.4	+	12	1156	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	365					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTATGAAGCTTTTAGTACCCC	0.338000													8	108					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338373	72338373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72338373G>T	ENST00000333850.3	+	4	588	c.447G>T	c.(445-447)gaG>gaT	p.E149D	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	149					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGAGCTAGAGGATGTGCCCT	0.438000													4	82					0.150653	0.152692	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168241	10168241	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10168241T>C	ENST00000396502.1	+	5	723	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.F199L	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	199	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTACTCATGTTTTCGTTCTT	0.428000													43	71					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643140	129643140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129643140A>G	ENST00000319119.4	+	2	1547	c.1462A>G	c.(1462-1464)Atg>Gtg	p.M488V	ZBTB34_ENST00000373452.2_Missense_Mutation_p.M484V	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGCCTCAGAGATGGGCCTAGA	0.483000													7	29					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365298	128365298	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:128365298T>C	ENST00000262462.4	+	9	2591	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	SLC27A6_ENST00000395266.1_Silent_p.S527S|SLC27A6_ENST00000506176.1_Silent_p.S527S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	527					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATGGCTTCTATTATTTTAA	0.284000													19	41					0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35761456	35761456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35761456C>T	ENST00000222305.3	+	5	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	USF2_ENST00000379134.3_Intron|USF2_ENST00000594064.1_Missense_Mutation_p.T177M|USF2_ENST00000343550.5_Missense_Mutation_p.T112M|USF2_ENST00000595068.1_Missense_Mutation_p.T179M	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	179					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGATACTACGGCTGTGTCC	0.607000													11	28					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577669	30577669	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30577669T>A	ENST00000378962.3	-	3	1126	c.804A>T	c.(802-804)agA>agT	p.R268S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	268										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGACTATATCTCTGGCTTTTG	0.403000													10	92					0	0	1	0	0
PTGES3L-AARSD1	0	broad.mit.edu	37	17	41107181	41107181	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41107181C>T	ENST00000421990.2	-	13	1722	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	PTGES3L-AARSD1_ENST00000409399.1_Silent_p.L459L|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.L368L|PTGES3L-AARSD1_ENST00000360221.4_Silent_p.L398L|AARSD1_ENST00000427569.2_Silent_p.L285L	NM_001136042.2	NP_001129514.2																					TCACCTTCTGCAGGATCTTGG	0.512000													6	66					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47888776	47888776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888776G>A	ENST00000446256.2	+	13	2398	c.1826G>A	c.(1825-1827)tGc>tAc	p.C609Y	DHX30_ENST00000445061.1_Missense_Mutation_p.C648Y|DHX30_ENST00000348968.4_Missense_Mutation_p.C620Y|DHX30_ENST00000457607.1_Missense_Mutation_p.C676Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	648	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGGATGAATGCGCACTCGAT	0.612000													30	53					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52698993	52698993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52698993C>A	ENST00000370989.1	-	5	518	c.360G>T	c.(358-360)aaG>aaT	p.K120N	GSTA5_ENST00000284562.2_Missense_Mutation_p.K120N|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	120	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCAAGGCAGTCTTGGCATCTC	0.383000													20	229					3.8784e-16	4.99462e-16	1	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40265883	40265883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40265883C>T	ENST00000263791.5	+	11	1794	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S584F|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S584F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	584					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACAGTTTTCCCGATACTTC	0.428000													58	81					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626209	102626209	+	Missense_Mutation	SNP	C	C	T	rs139061430	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626209C>T	ENST00000332549.3	+	3	482	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	IL1R2_ENST00000393414.2_Missense_Mutation_p.R85W|IL1R2_ENST00000441002.1_Missense_Mutation_p.R85W	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	85	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AGAAGAGACACGGATGTGGGC	0.597000													8	194					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41120228	41120228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41120228C>T	ENST00000308370.7	+	22	2889	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	LTBP4_ENST00000204005.9_Silent_p.D926D|LTBP4_ENST00000243562.9_Silent_p.D61D|LTBP4_ENST00000396819.3_Silent_p.D896D|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.D416D	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	963	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACGTGGACGAATGTCGCG	0.652000													14	19					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133491792	133491792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133491792C>A	ENST00000319725.9	+	7	530	c.455C>A	c.(454-456)cCt>cAt	p.P152H		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	152					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGAAATGGACCTGGCTTTCAT	0.498000													18	37					1.99824e-07	2.35189e-07	1	1	0
EEF2K	29904	broad.mit.edu	37	16	22269826	22269826	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22269826G>T	ENST00000263026.5	+	10	1515	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	347					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AATCAGCCAAGACCATCTTGA	0.532000													6	71					0.217242	0.218821	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51127792	51127792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51127792C>T	ENST00000266037.9	+	9	746	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	241						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTATATGACATGAGGGAAG	0.458000													7	14					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33012102	33012102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33012102C>T	ENST00000317907.4	+	16	2115	c.1884C>T	c.(1882-1884)caC>caT	p.H628H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	628							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTATGAACACTGGCAGATTT	0.368000													5	55					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667724	51667724	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51667724C>T	ENST00000409535.1	+	7	1082	c.957C>T	c.(955-957)atC>atT	p.I319I	RAD54L2_ENST00000296477.3_Silent_p.I13I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	319	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCTTTCATCGACGTCCTCT	0.517000													30	47					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422859	6422859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6422859C>T	ENST00000389906.2	-	9	1547	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Missense_Mutation_p.R222H|APBB1_ENST00000530885.1_Missense_Mutation_p.R261H|APBB1_ENST00000299402.6_Missense_Mutation_p.R481H|APBB1_ENST00000311051.3_Missense_Mutation_p.R481H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	483	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCCTCACAGCGAAACACGTG	0.577000													21	29					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873475	91873475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91873475G>A	ENST00000373094.1	+	7	4425	c.3580G>A	c.(3580-3582)Gct>Act	p.A1194T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1184T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1186T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1157T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1176T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1157T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1194					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAGACCATTGCTCTCTGCCA	0.587000													5	85					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	691249	691249	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691249C>A	ENST00000383578.3	-	5	409	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D172Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D151Y|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	151					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TACCTGAAATCTATGCAGGAT	0.458000													11	45					0.000978159	0.00105116	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101748295	101748295	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101748295C>T	ENST00000375001.3	+	3	972	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	183	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGCACAGCCGCATCCCCT	0.587000													29	33					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28369239	28369239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28369239G>A	ENST00000261609.7	-	85	13240	c.13132C>T	c.(13132-13134)Ctc>Ttc	p.L4378F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4378					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGGCCCGAGTCCAGTTTCG	0.562000													17	30					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641583	55641583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641583C>T	ENST00000343870.4	+	1	602	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCAACACTGTAGATCAT	0.443000													22	54					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895265	230895265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230895265C>A	ENST00000354537.1	+	3	373	c.291C>A	c.(289-291)tgC>tgA	p.C97*	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.C97*	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	97	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGACTGCTGGCTATTAG	0.478000													34	35					6.70999e-13	8.46507e-13	1	1	0
SND1	27044	broad.mit.edu	37	7	127326801	127326801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127326801G>T	ENST00000354725.3	+	2	407	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	71	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGATGCAAAGGATACCCCTG	0.557000													17	69					7.21436e-19	9.4273e-19	1	1	0
IKBKE	0	broad.mit.edu	37	1	206651588	206651588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206651588G>A	ENST00000367120.3	+	9	1271	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	IKBKE_ENST00000537984.1_Missense_Mutation_p.A215T|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	300	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTTCTTTGCGGAGACCAG	0.602000													6	87					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241947	109241947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109241947C>T	ENST00000370021.1	+	7	1250	c.613C>T	c.(613-615)Cga>Tga	p.R205*	PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R316*			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	316					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAAAGAACGGCGAAGATCCCG	0.512000													6	108					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41420033	41420033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:41420033C>A	ENST00000373198.3	-	3	523	c.288G>T	c.(286-288)aaG>aaT	p.K96N	PTPRT_ENST00000373184.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373187.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373193.3_Missense_Mutation_p.K96N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K96N|PTPRT_ENST00000373201.1_Missense_Mutation_p.K96N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	96	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCATTCTCCTTCAGGGTTG	0.567000													4	40					0.00024832	0.0002712	1	1	0
C12orf4	57102	broad.mit.edu	37	12	4600386	4600386	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4600386G>T	ENST00000261250.3	-	12	1542	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	C12orf4_ENST00000545746.1_Silent_p.P485P	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTAAGCACCAGGGTATAGTCA	0.348000													43	67					2.64894e-19	3.46538e-19	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71689282	71689282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71689282A>G	ENST00000393524.2	-	15	2978	c.2245T>C	c.(2245-2247)Tat>Cat	p.Y749H	RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.Y851H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000540628.1_Missense_Mutation_p.Y26H|PHLPP2_ENST00000568954.1_Missense_Mutation_p.Y816H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	816						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AACATGCCATACACAGCTCCC	0.463000													8	121					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692959	40692959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40692959G>T	ENST00000298910.7	+	25	3454	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K1132N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1132					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAACTGAAGATTTTAAACC	0.353000													54	70					6.60958e-23	8.73533e-23	1	1	0
MRPS22	56945	broad.mit.edu	37	3	139069024	139069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139069024C>T	ENST00000495075.1	+	6	940	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	MRPS22_ENST00000478464.1_Missense_Mutation_p.R129C|MRPS22_ENST00000465056.1_Missense_Mutation_p.R169C|MRPS22_ENST00000310776.4_Missense_Mutation_p.R170C			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	170			R -> H (in COXPD5).			mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTTAGGAGCGTTTTATTGT	0.398000													18	28					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105377025	105377025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105377025G>A	ENST00000369774.4	-	11	1125	c.849C>T	c.(847-849)gaC>gaT	p.D283D	SH3PXD2A_ENST00000540321.1_Silent_p.D150D|SH3PXD2A_ENST00000427662.2_Silent_p.D145D|SH3PXD2A_ENST00000355946.2_Silent_p.D255D|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.D118D			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	283	SH3 2.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCCAATCTCGTCCTTGCTTT	0.527000													6	46					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1289437	1289437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1289437G>A	ENST00000309212.6	-	8	1225	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	MXRA8_ENST00000445648.2_Missense_Mutation_p.L399F|MXRA8_ENST00000342753.4_Missense_Mutation_p.L298F	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	399						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCCTGTAAAGCATCTGGTCC	0.642000													6	48					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46295224	46295224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46295224C>T	ENST00000361297.2	+	3	722	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q147*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCCCTTGGACAGTCTGCACC	0.458000													6	56					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601606	13601606	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13601606A>G	ENST00000040738.5	-	10	7053	c.6918T>C	c.(6916-6918)atT>atC	p.I2306I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2306							DNA binding										GGACAGCACCAATCATGACTG	0.532000													7	12					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19466199	19466199	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19466199C>T	ENST00000392313.5	+	18	1812	c.1767_splice	c.e18+1	p.T589_splice	MAU2_ENST00000262815.8_Splice_Site_p.T589_splice	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	589					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AACCTCATCACGGTACGGGTG	0.582000													27	46					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52598163	52598163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52598163G>A	ENST00000356770.4	-	22	3684	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	PBRM1_ENST00000394830.3_Missense_Mutation_p.R1235C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1260C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1275C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1260C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1275C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1260C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1235C|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1260	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTGTAGCGGCTCTCACAA	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								25	42					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985995	108985995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108985995C>T	ENST00000392806.3	-	2	333	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	55						integral to membrane		p.P55P(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCAGGGTGGCGGGAGGCTCG	0.706000													6	10					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374245	62374245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374245G>A	ENST00000266077.2	+	8	1118	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	356						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCCCGCGGCGACGCGAAGAA	0.672000													4	11					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649691	232649691	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232649691C>T	ENST00000366630.1	-	2	1753	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	SIPA1L2_ENST00000262861.4_Silent_p.Q465Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	465					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGAATAGGCTGGTTTTCTC	0.478000													80	86					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31395665C>T	ENST00000328111.2	+	23	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602000													12	102					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083159	34083159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34083159G>A	ENST00000373381.4	-	38	6062	c.5886C>T	c.(5884-5886)ggC>ggT	p.G1962G	CSMD2_ENST00000373380.1_Silent_p.G835G|CSMD2_ENST00000373377.1_Silent_p.G61G|CSMD2_ENST00000373388.2_Silent_p.G61G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1922	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTAGCGCTCGCCAGTCTTCA	0.572000													11	23					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157161725	157161725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161725G>T	ENST00000231198.7	+	3	754	c.510G>T	c.(508-510)aaG>aaT	p.K170N	AC026407.1_ENST00000599823.1_Silent_p.S1S	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	170					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACTTTAAAGGACTACCTCA	0.468000													17	33					0.000422831	0.000460248	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48609476	48609476	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48609476A>G	ENST00000328333.8	-	91	7133	c.7026T>C	c.(7024-7026)ggT>ggC	p.G2342G	COL7A1_ENST00000454817.1_Silent_p.G2310G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2342	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCAGCTTCACCCTGCACAG	0.662000													4	11					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993010	52993010	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993010C>T	ENST00000259803.7	-	6	1516	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	435						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGGTCATCTCAAAGGACACA	0.418000													83	123					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20862604	20862604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20862604G>A	ENST00000380249.1	+	18	2312	c.1948G>A	c.(1948-1950)Gct>Act	p.A650T	FOCAD_ENST00000605086.1_Missense_Mutation_p.A86T|FOCAD_ENST00000338382.6_Missense_Mutation_p.A650T	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	650						integral to membrane	binding										CACTTGGAATGCTCTCTCTCC	0.403000													10	118					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914520	111914520	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111914520G>T	ENST00000371968.3	-	2	338	c.99C>A	c.(97-99)ctC>ctA	p.L33L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L33L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	33						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGATCCAAAGAGCCAGTAAG	0.547000													14	202					1.36491e-13	1.73287e-13	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777746	18777746	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777746C>T	ENST00000380548.4	+	19	3858	c.3519C>T	c.(3517-3519)gcC>gcT	p.A1173A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1173	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCAGCGGCCCAGCAGCTCT	0.687000													6	8					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198358920	198358920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198358920G>A	ENST00000388968.3	-	6	928	c.661C>T	c.(661-663)Cga>Tga	p.R221*	HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R221*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	221					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATATAGCCTCGATCAAACTTC	0.269000													21	40					0	0	1	0	0
TUBA4B	0	broad.mit.edu	37	2	220136778	220136778	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220136778A>T	ENST00000490341.1	+	0	1248					NR_003063.1																						AAGGCCCATGAGGATATGACT	0.537000													3	7					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394292	52394292	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394292C>A	ENST00000354957.3	-	5	1381	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R338I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGATATCTCTGATGTGC	0.453000													23	36					2.70639e-06	3.11222e-06	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131225615	131225615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131225615C>A	ENST00000337057.3	-	6	1100	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307Y|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307Y	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGGTGATATCTTCAGTCAAT	0.353000													4	45					0.00024832	0.0002712	1	1	0
MCCC2	64087	broad.mit.edu	37	5	70945895	70945895	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70945895G>T	ENST00000340941.6	+	15	1502		c.e15-1		MCCC2_ENST00000323375.8_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCTTCCCCCAGCCCAAGATTT	0.433000													14	22					0.000151284	0.000166931	1	1	0
CLTA	1211	broad.mit.edu	37	9	36199092	36199092	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36199092T>C	ENST00000433436.2	+	3	573	c.373_splice	c.e3+1	p.L124_splice	CLTA_ENST00000538225.1_Splice_Site_p.L124_splice|CLTA_ENST00000470744.1_Splice_Site_p.L124_splice|CLTA_ENST00000396603.2_Splice_Site_p.L124_splice|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000345519.5_Splice_Site_p.L124_splice|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000242285.6_Splice_Site_p.L124_splice	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	124	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TGGAAGCCCTTGGTAAGGAAT	0.423000													9	122					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125807	48125807	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48125807G>A	ENST00000376919.3	+	7	688	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTGACCCTGAGGAAGATGACG	0.488000			T	SS18	synovial sarcoma								120	267					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641269	140641269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641269G>A	ENST00000509479.2	-	5	3481	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	871	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCATGCCTGTGCTCATATTGT	0.582000													148	188					0	0	1	0	0
PCDHB16	0	broad.mit.edu	37	5	140562776	140562776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562776G>A	ENST00000361016.2	+	1	1797	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGACAGCGCTGGATGGTG	0.502000													24	38					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156145	68156145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68156145G>A	ENST00000349223.5	+	2	583	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.C120Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.C120Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.C120Y|RP11-67A1.2_ENST00000548144.1_RNA	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	120					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTCCTAACTGTCATCAAGAA	0.398000													35	67					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807592	143807592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143807592G>A	ENST00000408979.2	+	1	986	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438000													92	76					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20512133	20512133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20512133C>T	ENST00000504154.1	+	10	1182	c.930C>T	c.(928-930)aaC>aaT	p.N310N	SLIT2_ENST00000273739.5_Silent_p.N314N|SLIT2_ENST00000503837.1_Silent_p.N314N|SLIT2_ENST00000503823.1_Silent_p.N310N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	310					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAACAGAACACAATCAAAG	0.323000													8	78					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987550	15987550	+	Missense_Mutation	SNP	C	C	T	rs144434741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15987550C>T	ENST00000345034.1	+	1	1187	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	396					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCTTTCTGAAAGATGG	0.398000													28	31					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136626210	136626210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136626210T>C	ENST00000264156.2	-	4	646	c.586A>G	c.(586-588)Aat>Gat	p.N196D		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	196					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGATTTATTTGTATCCAGT	0.368000													10	77					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22588019	22588019	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22588019C>T	ENST00000550753.1	+	0	2494					NR_003676.2																						CTGAGCACATCGTCCTGTGTT	0.572000													24	66					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701154	143701154	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143701154G>T	ENST00000408922.2	+	1	133	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGGAGCTTGAGTATGCGGGCA	0.502000													5	72					1.23904e-05	1.39987e-05	1	1	0
FAT1	2195	broad.mit.edu	37	4	187531103	187531103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187531103G>A	ENST00000441802.2	-	15	10129	c.9920C>T	c.(9919-9921)gCc>gTc	p.A3307V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3307	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCAGTGGCCTCTACTGT	0.438000										HNSCC(5;0.00058)			8	14					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682533	31682533	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682533C>A	ENST00000319386.3	+	11	2098	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	CCDC129_ENST00000451887.2_Missense_Mutation_p.L543M|CCDC129_ENST00000407970.3_Missense_Mutation_p.L517M|CCDC129_ENST00000409210.1_Missense_Mutation_p.L425M			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	517										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCACCAGAGCTGTATATCCC	0.542000													100	70					4.91162e-27	6.54906e-27	1	1	0
C17orf66	256957	broad.mit.edu	37	17	34190004	34190004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34190004C>A	ENST00000311880.2	-	8	899	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.D211Y	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	251							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATCACCTTGTCTTTAGAGACA	0.483000													35	45					5.59293e-11	6.93756e-11	1	1	0
MTA3	57504	broad.mit.edu	37	2	42936207	42936207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42936207C>A	ENST00000405592.1	+	15	1995	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	MTA3_ENST00000407270.3_Missense_Mutation_p.A499D|MTA3_ENST00000406652.1_Missense_Mutation_p.A442D|MTA3_ENST00000405094.1_Missense_Mutation_p.A499D|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Missense_Mutation_p.A498D			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	499						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCGTTTGTTGCTATTAATTAT	0.408000													4	6					1.23904e-05	1.39987e-05	1	1	0
FICD	11153	broad.mit.edu	37	12	108910886	108910886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108910886C>T	ENST00000552695.1	+	2	372	c.137C>T	c.(136-138)gCt>gTt	p.A46V	FICD_ENST00000552758.1_Missense_Mutation_p.A46V|FICD_ENST00000361549.2_Missense_Mutation_p.A46V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	46					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCGCTGGGGGCTGTGGAGGAG	0.657000													13	17					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190908	6190908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190908C>T	ENST00000530810.1	-	1	730	c.649G>A	c.(649-651)Gct>Act	p.A217T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGACACAGCGATGAGGATA	0.512000													20	22					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885145	77885145	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885145G>T	ENST00000340067.3	-	2	734	c.456C>A	c.(454-456)tcC>tcA	p.S152S	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	152						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGAAGAGGCAGGAGGTGCTGA	0.567000													8	80					0.0381472	0.0390147	1	1	0
GNRHR	0	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	rs150422225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443000													33	51					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005867	45005867	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45005867G>T	ENST00000258787.7	-	16	2098	c.1962C>A	c.(1960-1962)acC>acA	p.T654T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	654	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTATTCACAGGTCATCTTGT	0.657000													5	23					5.9392e-07	6.91975e-07	1	1	0
TBC1D3P5	0	broad.mit.edu	37	17	25753542	25753542	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25753542G>T	ENST00000586223.1	+	0	1552					NR_033892.1																						AAGGGGAACAGATGTTGATGC	0.572000													5	42					0.00116845	0.00124821	1	1	0
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622000													16	20					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41787069	41787069	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41787069C>T	ENST00000392006.3	+	7	1061	c.886_splice	c.e7-1	p.G296_splice	HNRNPUL1_ENST00000263367.3_Splice_Site_p.G207_splice|HNRNPUL1_ENST00000595018.1_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000602130.1_Splice_Site_p.G296_splice|HNRNPUL1_ENST00000352456.3_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000593587.1_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000378215.4_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	296	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCGTCAGGCGAAGAGCCTT	0.438000													24	21					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061529	71061529	+	Silent	SNP	G	G	A	rs141223232		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71061529G>A	ENST00000393567.2	-	20	3168	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	HYDIN_ENST00000448691.1_Silent_p.L1006L|HYDIN_ENST00000321489.5_Silent_p.L1006L|HYDIN_ENST00000448089.2_Silent_p.L1006L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1006										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATAGCCTTCGAGTATCACAT	0.493000													8	16					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49691175	49691175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49691175G>T	ENST00000257860.4	+	6	2531	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	344	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGAGCTGGAGGAGCAGTTCG	0.672000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					2.0095e-06	2.31757e-06	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109117137	109117137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109117137A>G	ENST00000261483.4	+	9	2467	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	472					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATGCGCTGGATAAAGCAGAT	0.333000													5	49					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31602786G>T	ENST00000379416.3	-	13	1237	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527000													36	67					8.01111e-26	1.06612e-25	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217793349	217793349	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217793349C>T	ENST00000366935.3	-	2	659	c.549G>A	c.(547-549)caG>caA	p.Q183Q	GPATCH2_ENST00000366934.3_Silent_p.Q183Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	183						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTCAGGTGGCTGGGTCATTG	0.433000													75	71					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409340	136409340	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136409340C>A	ENST00000264160.4	+	17	2031	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	R3HDM1_ENST00000410054.1_Missense_Mutation_p.A499D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A425D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A426D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.A555D	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	554							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATGAGTCTTGCTCGCCAGCCA	0.458000													6	192					0.248553	0.25002	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34180325	34180325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34180325G>A	ENST00000373381.4	-	21	3444	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1050	Sushi 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGGATGCTGTAG	0.642000													19	40					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411432	4411432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4411432C>T	ENST00000254436.7	-	2	320	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A70T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	70					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCATGTTGGCTAGCTGTCGA	0.567000													34	41					0	0	1	0	0
CLDND2	125875	broad.mit.edu	37	19	51871826	51871826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51871826C>T	ENST00000291715.1	-	1	431	c.6G>A	c.(4-6)ggG>ggA	p.G2G	CLDND2_ENST00000601435.1_Silent_p.G2G	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	2						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCGCTTCACCCCCATGCCAC	0.672000													10	11					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169773305	169773305	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169773305G>A	ENST00000286031.6	+	6	1102	c.402G>A	c.(400-402)caG>caA	p.Q134Q	C1orf112_ENST00000413811.2_Silent_p.Q105Q|C1orf112_ENST00000456684.1_Silent_p.Q192Q|C1orf112_ENST00000359326.4_Silent_p.Q134Q|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	134										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAAAGCAGTTAATGGAAC	0.393000													69	78					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102694	3102694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3102694G>A	ENST00000378398.3	+	2	125	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	PRDM16_ENST00000514189.1_Missense_Mutation_p.G15S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G15S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G15S|PRDM16_ENST00000441472.2_Missense_Mutation_p.G15S|PRDM16_ENST00000378391.2_Missense_Mutation_p.G15S|PRDM16_ENST00000270722.5_Missense_Mutation_p.G15S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	15					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTTAGGTGACGGTGACGTTGT	0.622000			T	EVI1	"""MDS, AML"""								18	35					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482312	171482312	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171482312G>A	ENST00000367742.3	+	3	532		c.e3+1		PRRC2C_ENST00000392078.3_Splice_Site|PRRC2C_ENST00000426496.2_Splice_Site|PRRC2C_ENST00000338920.4_Splice_Site|PRRC2C_ENST00000476522.1_Splice_Site			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C								protein C-terminus binding										AAGAAGAAAAGTGAGTCAAAG	0.383000													7	8					0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48615099	48615099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48615099G>T	ENST00000258662.2	+	2	382	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	68	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTGGGAAGAAGCAGCTCTTCA	0.333000													9	33					4.36969e-10	5.35656e-10	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143159150	143159150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143159150C>A	ENST00000513000.1	-	13	1136	c.703G>T	c.(703-705)Gta>Tta	p.V235L	INPP4B_ENST00000308502.4_Missense_Mutation_p.V235L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V235L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V235L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V235L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	235					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTTACATACTGGGTTCTTT	0.313000													10	13					3.07112e-06	3.52574e-06	1	1	0
CNP	1267	broad.mit.edu	37	17	40120334	40120334	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40120334C>T	ENST00000393892.2	+	2	396	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CNP_ENST00000393888.1_Silent_p.D64D|CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632000													10	12					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114543212	114543212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114543212C>A	ENST00000374287.3	-	4	323	c.63G>T	c.(61-63)gaG>gaT	p.E21D	C9orf84_ENST00000318737.4_Missense_Mutation_p.E21D|C9orf84_ENST00000374283.5_Missense_Mutation_p.E85D			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	21										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATACATACTTCTCAAGGAAAT	0.368000													5	45					0.014758	0.0152625	1	1	0
CNTD1	124817	broad.mit.edu	37	17	40951108	40951108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40951108G>A	ENST00000588408.1	+	1	299	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	8										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGCCACGATCGGCCTCC	0.572000													4	14					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696257	31696257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31696257C>A	ENST00000375789.2	-	3	1072	c.442G>T	c.(442-444)Gga>Tga	p.G148*	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Nonsense_Mutation_p.G148*|DDAH2_ENST00000375787.2_Nonsense_Mutation_p.G148*			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	148					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCTCAGCTCCTCGGTGATTG	0.662000													4	23					0.184627	0.186383	1	1	0
SEC14L3	266629	broad.mit.edu	37	22	30857347	30857347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30857347G>A	ENST00000403066.1	-	12	1137	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SEC14L3_ENST00000402286.1_Missense_Mutation_p.A267V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.A285V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.A344V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A267V			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	344	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CACCATGTGGGCGTTATAGCG	0.612000													4	82					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180337714	180337714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180337714C>T	ENST00000442201.2	-	15	2162	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	681					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTGGCATCCAAACAGTCAC	0.353000													7	15					0	0	1	0	0
JHDM1D	0	broad.mit.edu	37	7	139796538	139796538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139796538C>A	ENST00000397560.2	-	17	2288	c.2191G>T	c.(2191-2193)Gag>Tag	p.E731*	JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.E731*	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		731					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCTTCTTCCTCTGTGCTCGTC	0.393000													13	93					0.000219431	0.000240782	1	1	0
FAT4	79633	broad.mit.edu	37	4	126371190	126371190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126371190G>T	ENST00000394329.3	+	9	9032	c.9019G>T	c.(9019-9021)Gca>Tca	p.A3007S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1305S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3007	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGTTACAGCAATAGATGA	0.338000													16	49					1.02788e-11	1.28409e-11	1	1	0
HSD17B11	51170	broad.mit.edu	37	4	88278558	88278558	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88278558A>G	ENST00000358290.4	-	5	883	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.F146L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	190					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACAGCAGCAAACTTGCTTGAA	0.378000													9	25					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115641	168115641	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115641T>C	ENST00000409728.1	+	11	2773	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	XIRP2_ENST00000409605.1_Missense_Mutation_p.V640A|XIRP2_ENST00000409756.2_Missense_Mutation_p.V862A|XIRP2_ENST00000409043.1_Missense_Mutation_p.V862A|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V895A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGATTCTGTAGATCAAATT	0.318000													7	39					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16338404	16338404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:16338404C>A	ENST00000400202.1	-	3	2822	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E704*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E704*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	704					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGCAGATTTTCTATTTCAGAA	0.408000													29	47					1.75199e-13	2.22232e-13	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75844497	75844497	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844497T>C	ENST00000322507.8	-	32	5778	c.5469A>G	c.(5467-5469)gtA>gtG	p.V1823V	COL12A1_ENST00000416123.2_Silent_p.V1823V|COL12A1_ENST00000483888.2_Silent_p.V1823V|COL12A1_ENST00000345356.6_Silent_p.V659V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGAGAGGATACGGTGATAG	0.463000													28	53					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734712	12734712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734712G>A	ENST00000380682.1	+	15	2640	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	712					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAGTTTGTGGAAAATTCTGT	0.498000													91	163					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110250325	110250325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110250325G>A	ENST00000374672.4	-	3	823	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	117					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACTGACTCCGGAGGATGGGT	0.647000													8	11					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69682740	69682740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69682740C>T	ENST00000395198.3	-	26	3369	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	HERC4_ENST00000277817.6_Missense_Mutation_p.R931H|HERC4_ENST00000373700.4_Missense_Mutation_p.R1033H|HERC4_ENST00000412272.2_Missense_Mutation_p.R963H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1041	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CAGTTTAGAGCGTAGAGTTTC	0.358000													57	103					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138376002	138376002	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138376002T>C	ENST00000409968.1	+	19	3784	c.3606T>C	c.(3604-3606)ggT>ggC	p.G1202G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G1205G|THSD7B_ENST00000413152.2_Silent_p.G1174G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCCTGTGGTCAAGGCGTCA	0.493000													3	26					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15599897	15599897	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:15599897C>A	ENST00000342526.3	-	2	296		c.e2-1			NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGGAGTTGCCTGGAAAGGAA	0.393000													4	58					0.000602214	0.000649039	1	1	0
MSL3	10943	broad.mit.edu	37	X	11783771	11783771	+	Missense_Mutation	SNP	G	G	T	rs147804390	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783771G>T	ENST00000337339.2	+	9	1121	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	MSL3_ENST00000361672.2_Missense_Mutation_p.S216I|MSL3_ENST00000380693.3_Missense_Mutation_p.S199I|MSL3_ENST00000312196.4_Missense_Mutation_p.S365I|MSL3_ENST00000398527.2_Missense_Mutation_p.S353I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	365					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCTGAGAGCAGCGCTTCACCT	0.612000													47	67					5.7616e-29	7.70675e-29	1	1	0
STYXL1	51657	broad.mit.edu	37	7	75634663	75634663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75634663G>A	ENST00000451157.1	-	6	682	c.513C>T	c.(511-513)ggC>ggT	p.G171G	STYXL1_ENST00000248600.1_Silent_p.G171G|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Silent_p.G171G|STYXL1_ENST00000359697.3_Silent_p.G171G|STYXL1_ENST00000340062.5_Silent_p.G75G			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	171	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACTGAAATTGCCAACGAAGA	0.468000													7	90					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567396	45567396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45567396C>T	ENST00000588982.1	-	3	584	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	28						intracellular	nucleic acid binding|zinc ion binding	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582000													12	25					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472057	231472057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472057C>T	ENST00000366645.1	-	1	1541	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T	EXOC8_ENST00000360394.2_Missense_Mutation_p.A479T			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	479					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAGTGCCTGCAAAATCGATC	0.478000													6	28					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642974	127642974	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642974G>T	ENST00000405109.1	+	2	1537	c.1070_splice	c.e2+1	p.R357_splice	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Splice_Site_p.R357_splice|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	357										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAAATTTATAGGTTTGTATCT	0.318000													9	55					0.0581538	0.0593651	1	1	0
TG	7038	broad.mit.edu	37	8	133899498	133899498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133899498G>T	ENST00000220616.4	+	9	1921	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	TG_ENST00000377869.1_Missense_Mutation_p.E627D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	627	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCTATGAGGATGTCCAAT	0.522000													7	74					1.06961e-07	1.26574e-07	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189918930	189918930	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189918930T>C	ENST00000374866.3	-	36	2674	c.2400A>G	c.(2398-2400)ccA>ccG	p.P800P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	800					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAAAGGACCTGGAAGACCCT	0.403000													3	49					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871577	182871577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182871577G>A	ENST00000265598.3	-	2	907	c.652C>T	c.(652-654)Cct>Tct	p.P218S	LAMP3_ENST00000466939.1_Missense_Mutation_p.P194S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	218					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATGGCTGAGGTGCAAGGGTG	0.542000													28	36					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189693	47189693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47189693C>T	ENST00000337137.4	+	3	581	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120W|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92W	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	139						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGGCGACCTCCGGCTGGTGAA	0.667000													3	2					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111631574	111631574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111631574C>T	ENST00000502935.1	-	17	1617	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A476T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A457T|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A386T			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	457					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGAAAACGGCTGCACTCACA	0.463000													18	30					0	0	1	0	0
C18orf56	494514	broad.mit.edu	37	18	658106	658106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:658106A>G	ENST00000323813.3	-	1	234	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.F48L	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	48							protein binding										CAGACGCCGAAACGGAGGGTC	0.692000													2	5					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049632	38049632	+	Silent	SNP	C	C	T	rs148090621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049632C>T	ENST00000463876.1	-	14	2474	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	PLCD1_ENST00000334661.4_Silent_p.T686T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	686	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542000													38	60					0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135176413	135176413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135176413C>T	ENST00000368547.3	-	8	1187	c.832G>A	c.(832-834)Gcg>Acg	p.A278T		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	278					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCCACAAACGCGGTCATCCCT	0.542000													22	43					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73064087	73064087	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064087A>C	ENST00000429829.1	-	0	8501					NR_001564.2																						AATTAGGATGAACCATGTGGT	0.393000													14	200					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2646507	2646507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2646507C>A	ENST00000382100.2	+	11	2014	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.S553Y|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	553					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGTTTAACTCTGACTTGCGA	0.473000													5	39					0.000602214	0.000649039	1	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26888068	26888068	+	Missense_Mutation	SNP	C	C	A	rs138370781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26888068C>A	ENST00000374168.2	+	17	1658	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L410M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L491M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L410M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L511M|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L486M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	502	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGACAAGATCCTGCGGCAGAA	0.557000													10	84					1.76689e-08	2.11513e-08	1	1	0
PCDHGA9	0	broad.mit.edu	37	5	140784723	140784723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140784723T>C	ENST00000573521.1	+	1	2204	c.2204T>C	c.(2203-2205)gTg>gCg	p.V735A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGGTGTGCCCACCTCA	0.572000													21	22					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47308164	47308164	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47308164G>T	ENST00000377065.4	-	5	1644	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	ZNF41_ENST00000397050.2_Silent_p.V345V|ZNF41_ENST00000313116.7_Silent_p.V335V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAGGGTAAAGACTTTCCCAC	0.408000													35	105					2.1956e-27	2.92967e-27	1	1	0
ZNF366	0	broad.mit.edu	37	5	71739898	71739898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739898C>A	ENST00000318442.5	-	5	2410	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652000													27	192					1.42536e-11	1.77909e-11	1	1	0
BLVRA	644	broad.mit.edu	37	7	43846772	43846772	+	Missense_Mutation	SNP	C	C	T	rs138692014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43846772C>T	ENST00000402924.1	+	9	992	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	BLVRA_ENST00000265523.4_Missense_Mutation_p.R277C	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	277					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGAAAAGAAACGCATCCTGCA	0.438000													20	55					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1206156	1206156	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1206156C>A	ENST00000382952.3	-	10	1546	c.1162G>T	c.(1162-1164)Ggt>Tgt	p.G388C	CTBP1_ENST00000290921.6_Missense_Mutation_p.G399C	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	399					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGACGATACCTTCCACAGCA	0.711000													3	1					0.150653	0.152692	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377169	180377169	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180377169G>A	ENST00000340184.4	+	8	1334	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	BTNL8_ENST00000400707.3_Silent_p.G251G|BTNL8_ENST00000511704.1_Silent_p.G260G|BTNL8_ENST00000505126.1_Silent_p.G169G|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Silent_p.G192G|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	376	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATCATGGGTACTGGGTCC	0.517000													18	33					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597978	62597978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62597978G>A	ENST00000450537.1	-	5	610	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAACAGGCCGGCTGATGGTG	0.597000													30	43					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337763	126337763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337763C>T	ENST00000394329.3	+	6	7017	c.7004C>T	c.(7003-7005)aCa>aTa	p.T2335I	FAT4_ENST00000335110.5_Missense_Mutation_p.T633I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2335	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGATTACAGCTACAGAT	0.453000													7	149					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050768	110050768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050768G>T	ENST00000369864.4	-	2	1116	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256Y			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	256	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527000													6	108					0.00116845	0.00124821	1	1	0
TNFRSF8	0	broad.mit.edu	37	1	12170199	12170199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12170199C>T	ENST00000263932.2	+	6	836	c.614C>T	c.(613-615)gCt>gTt	p.A205V	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A94V	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	205					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAAGCTGCTTCTAAACTG	0.637000													11	28					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725688	55725688	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55725688C>A	ENST00000379667.1	+	1	204	c.204C>A	c.(202-204)atC>atA	p.I68I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTAGAAATCTCATTTACAA	0.418000													38	81					1.90571e-15	2.44502e-15	1	1	0
MN1	4330	broad.mit.edu	37	22	28193733	28193733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193733C>T	ENST00000302326.4	-	1	3753	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	933							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGAGACCGGCTTGCCGTCAT	0.687000			T	ETV6	"""AML, meningioma"""								7	7					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502896	12502896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12502896G>A	ENST00000419318.1	-	4	969	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R106C			Q96GE5	ZN799_HUMAN	zinc finger protein 799	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCACTCATACGGCTTTCATAT	0.413000													30	51					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042505	74042505	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74042505T>A	ENST00000409561.1	+	3	1276	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	385										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGATCCTCCACTACTTC	0.438000													12	25					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684859C>T	ENST00000358368.4	-	17	2406	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	XAB2_ENST00000534844.1_Missense_Mutation_p.R787H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTCTGGGCGCGCAAGGGCTG	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)					17	28					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9704045	9704045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9704045C>A	ENST00000296003.4	+	3	525	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MTMR14_ENST00000351233.5_Missense_Mutation_p.L135M|MTMR14_ENST00000353332.5_Missense_Mutation_p.L135M|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	135						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCCAGTAATCCTGTTCAAGGG	0.512000													4	48					0.184627	0.186383	1	1	0
PLB1	151056	broad.mit.edu	37	2	28762004	28762004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28762004G>T	ENST00000422425.2	+	11	734	c.690G>T	c.(688-690)gaG>gaT	p.E230D	PLB1_ENST00000327757.5_Missense_Mutation_p.E219D	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	219	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTCTCTGAGGTTGCAGAGG	0.562000													6	54					0.248553	0.25002	1	1	0
GJA1	2697	broad.mit.edu	37	6	121768052	121768052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768052C>T	ENST00000282561.3	+	2	216	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	20					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TACTCAACTGCTGGAGGGAAG	0.522000													50	65					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104465051	104465051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104465051C>T	ENST00000372578.3	-	2	142	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	TEX13A_ENST00000372575.1_Missense_Mutation_p.G11R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G11R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	11						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537000													13	22					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291736	163291736	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291736G>T	ENST00000332142.5	-	8	2025	c.1926C>A	c.(1924-1926)atC>atA	p.I642I	KCNH7_ENST00000328032.4_Silent_p.I635I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	642					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.I635I(1)|p.I642I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAATTGAAAAGATTTTCTCCG	0.333000													10	66					0.00010058	0.000111121	1	1	0
TSSK2	23617	broad.mit.edu	37	22	19119140	19119140	+	Silent	SNP	C	C	T	rs150544486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119140C>T	ENST00000399635.2	+	1	820	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	76	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGACTTACGAGATCTTTG	0.537000													4	31					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087394	92087394	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92087394C>G	ENST00000298047.6	+	1	2133	c.2116C>G	c.(2116-2118)Ctg>Gtg	p.L706V	FAT3_ENST00000541502.1_Missense_Mutation_p.L706V|FAT3_ENST00000525166.1_Missense_Mutation_p.L556V|FAT3_ENST00000409404.2_Missense_Mutation_p.L706V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGGAAACTGAATCTGGA	0.398000										TCGA Ovarian(4;0.039)			6	126					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197059134	197059134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059134G>A	ENST00000367409.4	-	25	10166	c.9910C>T	c.(9910-9912)Cga>Tga	p.R3304*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.R969*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1719*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3304					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACAACTTCGGATCAAAACA	0.343000													30	55					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781845	107781845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107781845C>A	ENST00000311955.3	-	1	628	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	192					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCGCTGTCCTCTGTGTCTACG	0.602000													85	136					8.45761e-33	1.13538e-32	1	1	0
DCUN1D2	55208	broad.mit.edu	37	13	114135036	114135036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114135036A>G	ENST00000478244.1	-	3	525	c.243T>C	c.(241-243)atT>atC	p.I81I	DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Silent_p.I81I	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	81	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATCGACTCCAATTTTGTTTT	0.393000													9	80					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905037	23905037	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905037T>G	ENST00000382298.3	-	10	13566	c.12978A>C	c.(12976-12978)aaA>aaC	p.K4326N	SACS_ENST00000382292.3_Missense_Mutation_p.K4326N|SACS_ENST00000402364.1_Missense_Mutation_p.K3576N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4326	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAATCTTTTTTCGTTCCG	0.373000													7	186					0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168160619	168160619	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168160619A>C	ENST00000367833.2	+	4	542	c.397A>C	c.(397-399)Aca>Cca	p.T133P	TIPRL_ENST00000367830.3_Missense_Mutation_p.T133P	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	133					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGTACCTACAACAGATCATAT	0.328000													14	119					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779617	3779617	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3779617T>C	ENST00000310132.6	-	10	1241		c.e10-2		MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000395045.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCATCTTCCTGGGGGCGGTG	0.692000													5	8					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53687221	53687221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687221C>T	ENST00000257934.4	+	31	6417	c.6326C>T	c.(6325-6327)gCa>gTa	p.A2109V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A2109V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2109					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTGGGGCTGCACCTATAGCC	0.542000													4	42					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905007	73905007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73905007C>T	ENST00000342056.2	+	15	3124	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.P881L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P900L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P890L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P891L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P780L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P890L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	890				R -> Q (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGCCGCACCGCAGCCTGCC	0.488000													17	45					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760693	6760693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6760693G>A	ENST00000245908.6	-	3	644	c.375C>T	c.(373-375)agC>agT	p.S125S	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	125					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGTGTCCTCGCTAAAGCTGC	0.597000													12	12					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973788	54973788	+	Missense_Mutation	SNP	C	C	T	rs142325287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54973788C>T	ENST00000333834.4	-	1	1106	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	330					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCCCAGGCTCGGTCACCATG	0.627000													25	28					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138793934	138793934	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138793934G>A	ENST00000242351.5	-	1	460	c.144C>T	c.(142-144)cgC>cgT	p.R48R	ZC3HAV1_ENST00000471652.1_Silent_p.R48R|ZC3HAV1_ENST00000464606.1_Silent_p.R48R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	48					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACACCACAAAGCGGTCGGGCC	0.711000													8	11					0	0	1	0	0
ZDHHC12	84885	broad.mit.edu	37	9	131484064	131484064	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131484064G>A	ENST00000372667.5	-	4	419	c.390C>T	c.(388-390)tgC>tgT	p.C130C	ZDHHC12_ENST00000372672.2_Silent_p.C116C|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Silent_p.C116C			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	116						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CGCAACGGCGGCACTCACGGC	0.662000													38	54					0	0	1	0	0
TP73-AS1	0	broad.mit.edu	37	1	3662560	3662560	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662560A>C	ENST00000452079.1	-	0	1326				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						CGGGCAGACAAGTCGCTGGTG	0.602000													12	100					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77809722	77809722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77809722G>A	ENST00000216468.7	-	5	614	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	187	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTCACCACGCTTCACCACC	0.537000													8	19					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942546	71942546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71942546C>T	ENST00000298229.2	+	13	1706	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	INPPL1_ENST00000541756.1_Missense_Mutation_p.A259V|INPPL1_ENST00000538751.1_Missense_Mutation_p.A259V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	501					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCCAGATTGCCATGCAATCA	0.522000													12	27					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139079976	139079976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139079976C>T	ENST00000333188.5	-	17	2338	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	COPB2_ENST00000507777.1_Silent_p.A690A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	719					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.A719A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATCTCTCTCCGCACCCTCTG	0.443000													20	186					0	0	1	0	0
AVPR2	0	broad.mit.edu	37	X	153171772	153171772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171772G>T	ENST00000358927.2	+	3	1021	c.812G>T	c.(811-813)aGg>aTg	p.R271M	AVPR2_ENST00000370049.1_Missense_Mutation_p.R271M|AVPR2_ENST00000337474.5_Missense_Mutation_p.R271M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	271					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGACTGTGAGGATGACGCTA	0.672000													36	46					4.92203e-23	6.50827e-23	1	1	0
PHF13	148479	broad.mit.edu	37	1	6681484	6681484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6681484G>A	ENST00000377648.4	+	4	1072	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	230					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACGATTCCTGGGACCTCGTGA	0.517000													8	23					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519666	149519666	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149519666C>T	ENST00000378016.2	+	0	13156							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCAGCAGCGCTACCGACA	0.697000													13	6					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146070694	146070694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146070694C>T	ENST00000394413.3	-	4	1014	c.444G>A	c.(442-444)ctG>ctA	p.L148L	PPP2R2B_ENST00000394410.2_Silent_p.L137L|PPP2R2B_ENST00000453001.1_Silent_p.L148L|PPP2R2B_ENST00000504198.1_Silent_p.L154L|PPP2R2B_ENST00000336640.6_Silent_p.L151L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.L148L|PPP2R2B_ENST00000508545.2_Silent_p.L137L|PPP2R2B_ENST00000394414.1_Silent_p.L214L|PPP2R2B_ENST00000394409.3_Silent_p.L206L|PPP2R2B_ENST00000356826.3_Silent_p.L148L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	148					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCACCCGCAGGGTTGTGA	0.562000													23	35					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463000													23	391					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277280	160277280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160277280C>T	ENST00000264431.4	+	23	4863	c.4444C>T	c.(4444-4446)Cag>Tag	p.Q1482*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1482					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCCCCTATCAGTCCCAAGG	0.522000													5	13					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920936	153920936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153920936G>A	ENST00000368633.1	-	13	1986	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	CRTC2_ENST00000368630.3_Missense_Mutation_p.T300I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	620					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATTCACCTGTGAGGATGAT	0.542000													16	29					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794202	21794202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21794202C>A	ENST00000206660.6	+	16	2580	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D822E|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D860E|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D219E			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	860	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGACCTCTGACCTGGACCATT	0.502000													6	21					0.0215528	0.0221649	1	1	0
STAG3	10734	broad.mit.edu	37	7	99794891	99794891	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99794891C>A	ENST00000426455.1	+	10	1461	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	STAG3_ENST00000317296.5_Missense_Mutation_p.L352M|STAG3_ENST00000394018.2_Missense_Mutation_p.L294M			Q9UJ98	STAG3_HUMAN	stromal antigen 3	352	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTGGACTCTGCATGATAA	0.453000													16	351					1.99824e-07	2.35189e-07	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125521526	125521526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125521526C>T	ENST00000241305.3	-	11	1793	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	547					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCGGAACACGTGGTCGTCG	0.677000													22	31					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43576899	43576899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43576899C>T	ENST00000216129.6	-	3	458	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	132					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCTGCTGGCGCGCGTGCTC	0.667000													26	34					0	0	1	0	0
SNX6	58533	broad.mit.edu	37	14	35078876	35078876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35078876G>A	ENST00000362031.4	-	3	193	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	43	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ACTTTATCCCGCTCACTAAGA	0.333000													31	47					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137338236	137338236	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137338236G>T	ENST00000367748.1	-	0	525				IL20RA_ENST00000367746.3_Silent_p.P31P|IL20RA_ENST00000541547.1_De_novo_Start_OutOfFrame|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.P31P			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha							integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGAGACACAGGGAACTGAAA	0.463000													12	18					5.50884e-06	6.28354e-06	1	1	0
MED13	9969	broad.mit.edu	37	17	60108947	60108947	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60108947G>A	ENST00000397786.2	-	6	943	c.867C>T	c.(865-867)gaC>gaT	p.D289D	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	289					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTAGGAATGTCTGACTGAG	0.483000													10	16					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.R107H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493000													6	46					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36354031	36354031	+	Missense_Mutation	SNP	C	C	T	rs146814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36354031C>T	ENST00000373204.4	+	2	242	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CTTGTAGCTGCGGGCGCTTAC	0.562000													32	33					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094331	91094331	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91094331C>A	ENST00000265431.3	-	2	261		c.e2-1			NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa							nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAACCACTTCCTGCAAAGACA	0.502000													7	101					0.00198382	0.00210581	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204001395	204001395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204001395C>A	ENST00000449802.1	+	28	4709	c.4376C>A	c.(4375-4377)tCt>tAt	p.S1459Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1459							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGAAAAGTCTGATGATGAT	0.333000													32	46					4.74835e-14	6.04786e-14	1	1	0
DCC	1630	broad.mit.edu	37	18	50450170	50450170	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50450170C>A	ENST00000442544.2	+	4	1407	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	DCC_ENST00000412726.1_Missense_Mutation_p.S112Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	264	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTGTGTTTCTGGCTATCCT	0.408000													28	37					9.39395e-14	1.19386e-13	1	1	0
FAT2	2196	broad.mit.edu	37	5	150900894	150900894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150900894C>T	ENST00000261800.5	-	18	11272	c.11260G>A	c.(11260-11262)Gcc>Acc	p.A3754T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3754					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGCCTGGCGGTGCTGTAC	0.612000													20	21					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989643	29989643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989643G>A	ENST00000308893.4	+	4	1318	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R92Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R92Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	92	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATTCAGTACCGGGGCTGTTAC	0.547000													56	117					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32242867G>A	ENST00000400246.1	+	31	3211	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000382112.3_Silent_p.T1014T|DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T|DEPDC5_ENST00000400248.1_Silent_p.T1014T|DEPDC5_ENST00000266091.3_Silent_p.T1023T			O75140	DEPD5_HUMAN	DEP domain containing 5	1014					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552000													7	61					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1262039G>A	ENST00000348261.5	+	25	4908	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000													67	80					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381153	141381153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381153C>T	ENST00000389328.4	-	8	1569	c.1555G>A	c.(1555-1557)Gcg>Acg	p.A519T	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A412T|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A421T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	421					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGCTCCGCGATGCTTGGG	0.597000													25	41					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25491316	25491316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25491316C>T	ENST00000278886.6	-	5	584	c.511G>A	c.(511-513)Gca>Aca	p.A171T	NINL_ENST00000422516.1_Missense_Mutation_p.A171T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	171					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTACCTTGTGCTTCAAATAAT	0.502000													39	61					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914893	94914893	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914893G>T	ENST00000334708.3	-	2	283	c.219C>A	c.(217-219)atC>atA	p.I73I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	73					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCGAGAAGAAGATGTTTCCGG	0.567000													11	154					3.86212e-05	4.30401e-05	1	1	0
TNIK	23043	broad.mit.edu	37	3	170819285	170819285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170819285G>A	ENST00000436636.2	-	22	2888	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	TNIK_ENST00000284483.8_Silent_p.S840S|TNIK_ENST00000470834.1_Silent_p.S811S|TNIK_ENST00000357327.5_Silent_p.S819S|TNIK_ENST00000538048.1_Silent_p.S800S|TNIK_ENST00000341852.6_Silent_p.S764S|TNIK_ENST00000488470.1_Silent_p.S793S|TNIK_ENST00000475336.1_Silent_p.S756S|TNIK_ENST00000460047.1_Silent_p.S785S|TNIK_ENST00000369326.5_Silent_p.S826S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	848	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S848S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATGGGTCTCGCTCTCTCCAT	0.488000													104	192					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193336716	193336716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193336716T>G	ENST00000361510.2	+	6	903	c.669T>G	c.(667-669)caT>caG	p.H223Q	OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361908.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361828.2_Missense_Mutation_p.H223Q|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Missense_Mutation_p.H169Q|OPA1_ENST00000361715.2_Missense_Mutation_p.H187Q|OPA1-AS1_ENST00000444085.1_RNA	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	205					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGACAAGCATTTTAGAAAGG	0.333000													11	110					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656709	230656709	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230656709A>G	ENST00000283943.5	-	28	4241	c.4063T>C	c.(4063-4065)Tat>Cat	p.Y1355H	TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1085H|TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1403H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCATGTTATACGGCAGCAAA	0.423000													60	71					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230522	7230522	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7230522C>T	ENST00000379938.2	+	10	2727	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	RREB1_ENST00000349384.6_Silent_p.I730I|RREB1_ENST00000379933.3_Silent_p.I730I|RREB1_ENST00000334984.6_Silent_p.I730I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	730					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGGATATCGAGAAGAACA	0.617000													23	29					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097529	124097529	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:124097529C>T	ENST00000422452.2	-	1	137	c.74G>A	c.(73-75)aGt>aAt	p.S25N	TENM1_ENST00000371130.3_Missense_Mutation_p.S25N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCAGAAGAACTGGTGTAAGC	0.443000													122	175					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701682	96701682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96701682G>A	ENST00000260682.6	+	2	248	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	79					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTGCTGCATGGATATGAAGCA	0.463000													6	132					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100711875	100711875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100711875A>G	ENST00000358544.2	+	36	6355	c.6244A>G	c.(6244-6246)Act>Gct	p.T2082A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T2057A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2082					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGAAGAGACTTCAGCCAT	0.383000													22	52					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112926833	112926833	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112926833G>T	ENST00000161863.4	+	27	4134	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1307	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAACAGAAGGGTATCTGGT	0.403000													14	113					1.49906e-05	1.69169e-05	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84126863	84126863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84126863C>A	ENST00000343411.3	-	6	1271	c.776G>T	c.(775-777)aGc>aTc	p.S259I	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	259	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCTCATGCTGGCTATCAC	0.468000													16	43					8.00594e-06	9.12844e-06	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15291940	15291940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15291940G>A	ENST00000263388.2	-	18	2901	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	942	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acgagttcacgccgtccacac	0.677000													6	5					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798692	203798692	+	Missense_Mutation	SNP	G	G	A	rs142418357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203798692G>A	ENST00000545588.1	+	5	4239	c.412G>A	c.(412-414)Gtt>Att	p.V138I	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V138I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	138							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCGGAGCGTTATGAAAGT	0.463000													9	114					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95756194	95756194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95756194C>A	ENST00000272418.2	-	11	1213	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	335					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGAGACCTTGGCATACA	0.542000													8	127					0.00448238	0.00472561	1	1	0
GAB4	128954	broad.mit.edu	37	22	17488898	17488898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17488898C>A	ENST00000400588.1	-	1	214	c.107G>T	c.(106-108)aGa>aTa	p.R36I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	36										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGCCACTTCTCGTGCTTCC	0.682000													3	5					0.184627	0.186383	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102968195	102968195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102968195G>A	ENST00000233954.1	+	11	1756	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	495	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCTGAGGCGCTTCAGGACT	0.527000													11	24					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41975705	41975705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41975705G>T	ENST00000269095.4	-	3	379	c.75C>A	c.(73-75)gcC>gcA	p.A25A	MPP2_ENST00000518766.1_Silent_p.A70A|MPP2_ENST00000523501.1_Silent_p.A14A|MPP2_ENST00000461854.1_Silent_p.A25A|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Silent_p.A42A|MPP2_ENST00000536246.1_Silent_p.A14A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	25	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCCCCCGTGGCACTGGGGA	0.577000													19	24					2.4624e-09	2.98951e-09	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76372121	76372121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76372121C>T	ENST00000407242.2	-	3	758	c.516G>A	c.(514-516)atG>atA	p.M172I	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.M172I|LRRC32_ENST00000404995.1_Missense_Mutation_p.M172I|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	172						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGCGCAGGCATGTCCCGGA	0.647000													26	33					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53612074	53612074	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53612074G>A	ENST00000342160.3	-	39	5356	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	HUWE1_ENST00000262854.6_Silent_p.S1633S|HUWE1_ENST00000218328.8_Silent_p.S1633S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1633	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTATTGTTGCTTGCACTGT	0.458000													60	71					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151853385	151853385	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151853385G>T	ENST00000355193.2	-	46	12106	c.11888C>A	c.(11887-11889)cCt>cAt	p.P3963H	KMT2C_ENST00000262189.6_Missense_Mutation_p.P3906H					lysine (K)-specific methyltransferase 2C																		AGGTGGTGTAGGAGGAAGAGA	0.438000													7	106					7.48243e-07	8.70085e-07	1	1	0
CERS4	79603	broad.mit.edu	37	19	8320711	8320711	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8320711G>A	ENST00000558331.1	+	6	722	c.263G>A	c.(262-264)aGg>aAg	p.R88K	CERS4_ENST00000559450.1_Missense_Mutation_p.R139K|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.R139K|CERS4_ENST00000251363.5_Missense_Mutation_p.R139K			Q9HA82	CERS4_HUMAN	ceramide synthase 4	139						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CACAGCTGGAGGTTTCTCTTC	0.622000													10	24					0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911081	62911081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62911081G>A	ENST00000417740.1	-	1	612	c.171C>T	c.(169-171)gaC>gaT	p.D57D	SLC22A24_ENST00000326192.5_Silent_p.D57D|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						CAGACACAGTGTCATTGTCCA	0.517000													3	18					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274574	74274574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274574G>T	ENST00000409262.3	+	1	1125	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	375							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAGAGGGAGGCTCCCACGC	0.662000													11	10					1.58986e-06	1.84011e-06	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167778997	167778997	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167778997A>C	ENST00000367848.1	-	33	4972	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1584S|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1431S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1584					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTGCTACAATTTTTTCCCA	0.388000													41	53					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581571	7581571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581571G>C	ENST00000379802.3	+	23	5489	c.5148G>C	c.(5146-5148)gaG>gaC	p.E1716D	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1716	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCAAGGAGCACTTGATGT	0.453000													33	65					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140554318	140554318	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554318C>T	ENST00000231137.3	+	1	2076	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		634	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCAGCCAAGC	0.692000													23	87					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35198194	35198194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35198194C>T	ENST00000263398.6	+	2	574	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CD44_ENST00000526669.2_Missense_Mutation_p.T47M|CD44_ENST00000526025.1_Missense_Mutation_p.T47M|CD44_ENST00000278386.6_Missense_Mutation_p.T47M|CD44_ENST00000415148.2_Missense_Mutation_p.T47M|CD44_ENST00000352818.4_Missense_Mutation_p.T47M|CD44_ENST00000434472.2_Missense_Mutation_p.T47M|CD44_ENST00000428726.2_Missense_Mutation_p.T47M|CD44_ENST00000449691.2_Missense_Mutation_p.T47M|CD44_ENST00000433892.2_Missense_Mutation_p.T47M|CD44_ENST00000433354.2_Missense_Mutation_p.T47M|CD44_ENST00000360158.4_Missense_Mutation_p.T47M|CD44_ENST00000437706.2_Missense_Mutation_p.T47M	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	47	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATCTCTCGGACGGAGGCCGCT	0.483000													12	26					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135250346	135250346	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135250346A>C	ENST00000265605.2	-	6	925	c.857T>G	c.(856-858)aTc>aGc	p.I286S	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I236S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	286					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGAGACAGATTTCACCCTG	0.463000													14	21					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948229	15948229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15948229C>T	ENST00000217246.4	+	13	1334	c.939C>T	c.(937-939)ggC>ggT	p.G313G	MACROD2_ENST00000402914.1_Silent_p.G78G|MACROD2_ENST00000310348.4_Silent_p.G313G|MACROD2_ENST00000378058.3_Silent_p.G78G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	313	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378000													28	45					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150059820	150059820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150059820A>C	ENST00000340413.2	-	5	673	c.597T>G	c.(595-597)gaT>gaG	p.D199E	NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D199E	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	199					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTGTCTGAAATCCCATATTT	0.338000													11	63					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148718144	148718144	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148718144T>G	ENST00000286091.4	-	2	416	c.184A>C	c.(184-186)Aat>Cat	p.N62H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	62	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGACTCCATTTTCTTCCTTA	0.433000													3	50					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523832	24523832	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24523832C>T	ENST00000376862.3	+	2	732	c.99C>T	c.(97-99)gcC>gcT	p.A33A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	33					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACTTGATGGCCGAGAGCAGAG	0.552000													20	59					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108319905	108319905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108319905C>A	ENST00000370056.4	-	4	668	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	VAV3_ENST00000371846.4_Nonsense_Mutation_p.E67*|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Nonsense_Mutation_p.E132*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	132					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTTTCTTCTGTTGGGAAG	0.378000													17	46					2.37509e-13	3.01126e-13	1	1	0
BICD2	23299	broad.mit.edu	37	9	95481452	95481452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481452C>T	ENST00000356884.6	-	5	1542	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	BICD2_ENST00000375512.3_Missense_Mutation_p.S492N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	492					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCTGGCGGCTGGCCTTCTC	0.672000													16	28					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880238	26880238	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26880238G>A	ENST00000412114.1	+	0	473					NR_026793.1																						CTCCCTCTCAGGACCTATAAA	0.423000													11	17					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862958	116862958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116862958G>A	ENST00000265437.5	+	16	1896	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	ST7_ENST00000393446.2_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000422922.1_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTGGAATTGCAAGAGTATT	0.448000													14	146					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964672	67964672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67964672C>T	ENST00000574481.1	-	4	836	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	92	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.S93fs*20(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTTTGATGATCGGTCATACTC	0.642000													19	27					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156469001	156469001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156469001G>A	ENST00000311822.8	+	9	1019	c.865G>A	c.(865-867)Gca>Aca	p.A289T	RNF32_ENST00000317955.5_Intron|RNF32_ENST00000343665.4_Intron|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Intron|RNF32_ENST00000392743.2_Intron|RNF32_ENST00000405335.1_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	292						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAAACTTCCGCATGTTTCGA	0.398000													11	5					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612023	20612023	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20612023C>A	ENST00000333629.1	+	1	129	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448000													16	211					6.94344e-10	8.49476e-10	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22001153	22001153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22001153C>A	ENST00000261200.4	-	23	2796	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E933*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E897*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCTCTCTAAAGTAGTT	0.418000													25	28					2.79863e-10	3.44159e-10	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47869717	47869717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47869717C>T	ENST00000289672.2	-	43	6529	c.6479G>A	c.(6478-6480)gGc>gAc	p.G2160D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2160					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTCCTGGCCAAACCTGCC	0.582000													12	27					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156536333	156536333	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156536333A>G	ENST00000361170.2	-	3	141	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	44	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGCCTCCATCCAGCTATG	0.547000													3	25					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007289	58007289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58007289G>T	ENST00000286494.4	+	4	935	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E198*	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	159					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGGCTCTGGAAAGGAGTAT	0.498000													5	83					1.024e-07	1.214e-07	1	1	0
FAM129B	64855	broad.mit.edu	37	9	130269157	130269157	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130269157G>A	ENST00000373312.3	-	14	2421	c.2208C>T	c.(2206-2208)acC>acT	p.T736T	FAM129B_ENST00000373314.3_Silent_p.T723T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	736							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CACTGTCCTCGGTGGTGGTGT	0.667000													4	79					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47310300	47310300	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47310300G>A	ENST00000285093.10	-	10	1586	c.1109_splice	c.e10-1	p.R371_splice	ACAA2_ENST00000589432.1_Splice_Site_p.R316_splice|ACAA2_ENST00000587994.1_Splice_Site_p.R368_splice	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	371					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CCACCTCGACGCCTGAAAAAG	0.408000													9	18					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202257753	202257753	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202257753T>C	ENST00000332624.3	-	10	1420	c.992A>G	c.(991-993)gAc>gGc	p.D331G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	331				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATTCCTGTCTTGTAACTC	0.398000													4	52					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54858868	54858868	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54858868G>T	ENST00000552397.1	-	3	996	c.100C>A	c.(100-102)Ctt>Att	p.L34I	GTSF1_ENST00000552395.1_Intron|GTSF1_ENST00000305879.5_Missense_Mutation_p.L34I|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	34							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CACTTGATAAGATGATAAGGA	0.398000													63	87					1.59245e-42	2.14911e-42	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52637555G>A	ENST00000356770.4	-	16	2667	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								15	20					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617539	8617539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617539C>T	ENST00000337907.3	-	6	1200	c.566G>A	c.(565-567)cGt>cAt	p.R189H	RERE_ENST00000400907.2_Missense_Mutation_p.R189H|RERE_ENST00000400908.2_Missense_Mutation_p.R189H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	189	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGATTGACGGTAGTACCA	0.403000													22	37					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100502171	100502171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100502171G>A	ENST00000279907.7	-	2	412	c.200C>T	c.(199-201)tCc>tTc	p.S67F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S67F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	67										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CACCCTAATGGACGCTTTATT	0.353000													35	52					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152973	149152973	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149152973A>G	ENST00000247930.4	-	2	464	c.141T>C	c.(139-141)tcT>tcC	p.S47S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGTGGGAGACAAAGAAG	0.557000													6	113					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569065	115569065	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115569065C>T	ENST00000371900.4	+	2	244	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	52					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGATTGGATACGCAGTGGGAT	0.453000													51	71					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844346	215844346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215844346C>T	ENST00000366943.2	-	64	14487	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4701K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4701	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E4701K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCAATAGTTCGGAATCTATA	0.363000										HNSCC(13;0.011)			56	114					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289689	62289689	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289689T>C	ENST00000378024.4	-	5	12474	c.12200A>G	c.(12199-12201)aAa>aGa	p.K4067R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATGCTGAATTTGGGCATTTT	0.493000													13	250					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58135653	58135653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58135653C>A	ENST00000357272.4	+	37	6333	c.6168C>A	c.(6166-6168)acC>acA	p.T2056T	FLNB_ENST00000429972.2_Silent_p.T2045T|FLNB_ENST00000358537.3_Silent_p.T2032T|FLNB_ENST00000490882.1_Silent_p.T2087T|FLNB_ENST00000419752.2_Silent_p.T1876T|FLNB_ENST00000348383.5_Silent_p.T2056T|FLNB_ENST00000295956.4_Silent_p.T2056T|FLNB_ENST00000493452.1_Silent_p.T1863T			O75369	FLNB_HUMAN	filamin B, beta	2056	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGATGGCACCTGCAAAGTCT	0.567000													7	154					0.000157383	0.00017284	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2054698	2054698	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2054698T>G	ENST00000382203.1	+	6	1357	c.1148T>G	c.(1147-1149)cTt>cGt	p.L383R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L383R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	383					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTAAAAGCACTTCGGTTACTC	0.423000													5	93					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46638873	46638873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46638873G>A	ENST00000181383.4	-	8	722	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.R199*	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	236					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTCCACATTCGATTCTACATA	0.423000													15	21					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574554	60574554	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60574554C>T	ENST00000406854.1	+	2	752	c.198C>T	c.(196-198)atC>atT	p.I66I	PCNXL4_ENST00000391611.2_Silent_p.I66I|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Silent_p.I66I|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)																		AGTTAGGCATCCTGAAAGACT	0.373000													12	22					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79603266	79603266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79603266G>A	ENST00000372391.2	-	6	1068	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	DLG5_ENST00000372388.2_Silent_p.L355L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	355					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGGGTCAGCATCTCTGTC	0.637000													10	119					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017265	1017265	+	Missense_Mutation	SNP	A	A	G	rs71472140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1017265A>G	ENST00000421673.2	-	31	5586	c.5536T>C	c.(5536-5538)Tcc>Ccc	p.S1846P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1846	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCACCAAGGAGGTGGAGAAA	0.542000													13	564					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941092	119941092	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119941092G>T	ENST00000297350.4	-	3	855	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	159					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTTCTACAGGGTGCTTTAG	0.413000													47	75					6.61955e-31	8.87288e-31	1	1	0
MUC16	94025	broad.mit.edu	37	19	9045923	9045923	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045923G>T	ENST00000397910.4	-	5	35911	c.35708C>A	c.(35707-35709)tCc>tAc	p.S11903Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11905	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGCACTGGAAAGCCCAGA	0.502000													30	83					3.99451e-17	5.17392e-17	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56953758	56953758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56953758G>A	ENST00000504904.3	-	7	1325	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ZNF667_ENST00000292069.6_Silent_p.C202C|ZNF667_ENST00000342634.3_Silent_p.C330C|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACATTTATTGCATTCATGGC	0.383000													7	142					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694787	49694787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694787C>T	ENST00000296452.4	+	5	7912	c.7798C>T	c.(7798-7800)Cgg>Tgg	p.R2600W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCTTGAGTCGGCGACGCCG	0.642000													19	14					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57894244	57894244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57894244A>T	ENST00000262027.5	+	10	1366	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V	MARS_ENST00000315473.5_Missense_Mutation_p.E177V|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	411					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGCTATGAGGAGGCTCGG	0.572000													4	52					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113465017	113465017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113465017C>T	ENST00000487903.1	+	5	506	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ATP11A_ENST00000375630.2_Missense_Mutation_p.R140W|ATP11A_ENST00000283558.8_Missense_Mutation_p.R140W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R140W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	140					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCTCGTTCGGAAACAAAG	0.443000													18	40					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422376	53422376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53422376T>G	ENST00000377942.3	-	1	399	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	PCDH8_ENST00000338862.4_Missense_Mutation_p.M66L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	66	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AATTGCTTCATCAGGCGGAAG	0.657000													5	93					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44419006	44419006	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44419006A>G	ENST00000269973.5	-	10	1672	c.582T>C	c.(580-582)tgT>tgC	p.C194C	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.C194C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	194					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACATTTTTCACATTTGTAGG	0.413000													69	113					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73446052	73446052	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73446052C>T	ENST00000389501.4	+	2	205	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	54							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAACGGCCCCTGGTGGCTGC	0.542000													9	18					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794054	109794054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794054C>T	ENST00000271332.3	+	1	1414	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	451	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCTGGATGCCCAGACTGGAG	0.572000													91	169					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120491630	120491630	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120491630C>A	ENST00000256646.2	-	16	2818	c.2599_splice	c.e16+1	p.G867_splice		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	867	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTCTTACCTTGCCAGCCA	0.458000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	172					1.87028e-06	2.164e-06	1	1	0
PIGQ	9091	broad.mit.edu	37	16	624613	624613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:624613G>A	ENST00000321878.5	+	2	698	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PIGQ_ENST00000470411.2_Missense_Mutation_p.R180H|PIGQ_ENST00000409527.2_Missense_Mutation_p.R180H|PIGQ_ENST00000026218.5_Missense_Mutation_p.R180H	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	180					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCAGTGACCGCTTTGATGAG	0.701000													3	11					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662655	64662655	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64662655G>T	ENST00000421419.2	-	41	5727	c.5613C>A	c.(5611-5613)atC>atA	p.I1871I	ATG2A_ENST00000377264.3_Silent_p.I1869I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1869							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGTCACAGATGGTCTGAG	0.682000													7	54					2.0095e-06	2.31757e-06	1	1	0
REXO1	57455	broad.mit.edu	37	19	1821569	1821569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1821569C>T	ENST00000170168.4	-	5	2437	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	781						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGTAGTCTTGGACGCCA	0.632000													39	66					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768987	121768987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768987G>A	ENST00000282561.3	+	2	1151	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	332					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TAACTCCCATGCACAGCCTTT	0.468000													36	46					0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982762	55982762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:55982762G>A	ENST00000356208.5	+	4	755	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	RBM38_ENST00000371219.2_Missense_Mutation_p.A113T|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	194					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCCATACGCCGCCTCGCCTGC	0.697000													9	7					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058547	121058547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121058547G>T	ENST00000392793.1	+	21	6277	c.6006G>T	c.(6004-6006)caG>caT	p.Q2002H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q2002H			O75443	TECTA_HUMAN	tectorin alpha	2002	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAGGTGTCAGAACCTCAAAG	0.398000													13	116					7.03913e-09	8.47891e-09	1	1	0
BUB1B	701	broad.mit.edu	37	15	40457360	40457360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40457360G>A	ENST00000287598.6	+	2	337	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	BUB1B_ENST00000560120.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E48K	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTGGCACAAGAATCTGCCTG	0.473000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				26	61					0	0	1	0	0
ZNF266	0	broad.mit.edu	37	19	9525366	9525366	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525366C>A	ENST00000592904.1	-	5	2311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ZNF266_ENST00000588933.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.D79Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.D79Y			Q14584	ZN266_HUMAN	zinc finger protein 266	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTTAACATCACTGACCTCC	0.408000													34	53					8.53417e-09	1.02731e-08	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7319304	7319304	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319304G>A	ENST00000302926.2	+	6	1585	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	NLGN2_ENST00000575301.1_Silent_p.L504L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	504					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGGATGAACTGCCCTATGTCT	0.597000													4	46					0	0	1	0	0
VMA21	203547	broad.mit.edu	37	X	150572153	150572153	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150572153C>A	ENST00000330374.6	+	2	209	c.104C>A	c.(103-105)gCt>gAt	p.A35D	VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.A90D	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	35					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTCTTCACAGCTTTAATGATC	0.348000													106	191					2.11273e-47	2.85583e-47	1	1	0
LRP2	4036	broad.mit.edu	37	2	170175364	170175364	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170175364T>G	ENST00000263816.3	-	3	503	c.218A>C	c.(217-219)aAg>aCg	p.K73T	LRP2_ENST00000443831.1_Missense_Mutation_p.K73T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	73	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTGGCACTTGAAATAGCC	0.463000													10	32					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231829962	231829962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231829962C>A	ENST00000439617.2	+	2	511	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DISC1_ENST00000537876.1_Missense_Mutation_p.S153Y|DISC1_ENST00000317586.4_Missense_Mutation_p.S153Y|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366636.4_Missense_Mutation_p.S153Y|DISC1_ENST00000539444.1_Missense_Mutation_p.S153Y|DISC1_ENST00000602281.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366633.3_Missense_Mutation_p.S153Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	153	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGGATAGTTCTGAGACCCTG	0.612000													10	26					7.03913e-09	8.47891e-09	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228543886	228543886	+	Silent	SNP	C	C	T	rs146933748	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228543886C>T	ENST00000284548.11	+	80	18770	c.18696C>T	c.(18694-18696)acC>acT	p.T6232T	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.T3351T|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6232					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGAAAACCGTCATCATGT	0.537000													64	164					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	422017	422017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:422017G>A	ENST00000431232.2	-	13	2446	c.2286C>T	c.(2284-2286)aaC>aaT	p.N762N	TMEM8A_ENST00000250930.3_Silent_p.N569N	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	762					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCTCCCGATCGTTCTTGCAGA	0.642000													4	49					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91731986	91731986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91731986C>A	ENST00000359028.2	+	46	11413	c.11188C>A	c.(11188-11190)Ctg>Atg	p.L3730M	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3676M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3726M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3730	Poly-Leu.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGCTGTTACTGGGTGGGTT	0.488000			T	BRAF	papillary thyroid								14	207					9.31168e-06	1.06029e-05	1	1	0
ARID2	196528	broad.mit.edu	37	12	46246205	46246205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246205G>T	ENST00000334344.6	+	15	4471	c.4299G>T	c.(4297-4299)gaG>gaT	p.E1433D	ARID2_ENST00000444670.1_Missense_Mutation_p.E1043D|ARID2_ENST00000457135.1_Missense_Mutation_p.E41D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E1284D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1433					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATACAGGAGGCTTCAAATG	0.423000			"""N, S, F"""		hepatocellular carcinoma								11	116					1.08611e-07	1.2824e-07	1	1	0
SUSD4	55061	broad.mit.edu	37	1	223402633	223402633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223402633G>A	ENST00000343846.3	-	5	1455	c.822C>T	c.(820-822)tgC>tgT	p.C274C	SUSD4_ENST00000454695.2_Silent_p.C114C|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.C274C			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	274	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCAGGATCGCAGTAAAACT	0.512000													28	24					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321995	55321995	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321995G>T	ENST00000314644.2	+	1	213	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTTCACAGAATCCAAATG	0.403000										HNSCC(20;0.049)			62	115					1.93748e-29	2.59308e-29	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26866633	26866633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:26866633G>A	ENST00000541819.2	-	5	559	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GABRB3_ENST00000545868.1_Missense_Mutation_p.L12F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L97F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L26F|GABRB3_ENST00000311550.5_Missense_Mutation_p.L97F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	97					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATAGGCGAGCCTTTTATCT	0.423000													19	36					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276353	150276353	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276353A>C	ENST00000446148.2	-	7	923	c.496T>G	c.(496-498)Ttt>Gtt	p.F166V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.F150V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F114V|ZNF300_ENST00000394226.2_Missense_Mutation_p.F150V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTAACAAATGTGACCTGC	0.393000													47	85					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132361638	132361638	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132361638T>G	ENST00000264990.6	-	3	1229	c.258A>C	c.(256-258)agA>agC	p.R86S	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.R86S|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R86S	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTTTAAATTCTCTATCAATCT	0.318000													10	67					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78041867	78041867	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78041867A>G	ENST00000370801.3	-	12	2692	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	ZZZ3_ENST00000370798.1_Silent_p.H245H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTTAAAGAGATGCTTATTAA	0.363000													12	173					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33137576	33137576	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33137576C>A	ENST00000375030.2	+	20	2049	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	C10orf68_ENST00000375028.3_Silent_p.I522I|C10orf68_ENST00000375025.4_Silent_p.I582I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	518										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGAAGGTATCTTTACTAGGA	0.279000													7	76					0.0293803	0.0301098	1	1	0
AATK	9625	broad.mit.edu	37	17	79093232	79093232	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093232C>T	ENST00000326724.4	-	13	4056	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	AATK_ENST00000417379.1_Silent_p.T1241T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1344						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCGGGACGTGGGCGCGG	0.736000													6	13					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234510123	234510123	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234510123T>C	ENST00000366612.1	+	1	677	c.132T>C	c.(130-132)tgT>tgC	p.C44C	COA6_ENST00000366613.1_Silent_p.C90C|COA6_ENST00000366615.4_Silent_p.C120C					cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		AATCAAGTTGTCCCCAACAGT	0.463000													17	88					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14805895	14805895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14805895G>A	ENST00000261170.3	-	13	1660	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	508	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTTTTTGTCGTATTTGCACT	0.478000													56	89					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320975	56320975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56320975C>T	ENST00000443188.1	-	5	1711	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D	NLRP11_ENST00000592953.1_Missense_Mutation_p.G235D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G334D|NLRP11_ENST00000589093.1_Missense_Mutation_p.G334D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G334D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	334	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGGCACAGACCCACGAGTAT	0.527000													4	42					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455471	27455471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27455471C>A	ENST00000262244.5	-	2	502	c.78G>T	c.(76-78)caG>caT	p.Q26H		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	26							metal ion binding|protein binding										GCTCAAACCTCTGTGTGCCAG	0.547000													8	160					0.00307968	0.00325696	1	1	0
TFB2M	64216	broad.mit.edu	37	1	246729428	246729428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246729428C>A	ENST00000366514.4	-	1	198	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	TFB2M_ENST00000544618.1_Missense_Mutation_p.V5L	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	5					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGCCCGACCACTGGGATCCAC	0.597000													16	18					3.52763e-06	4.04633e-06	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63978187	63978187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63978187G>A	ENST00000279227.5	+	3	360	c.265G>A	c.(265-267)Gca>Aca	p.A89T	FERMT3_ENST00000345728.5_Missense_Mutation_p.A89T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	89					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCTGGCCGACGCACGCCTCTT	0.637000													56	106					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123794416	123794416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123794416G>A	ENST00000223642.1	-	6	671	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	214					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAAAATATGCGGTTCCAGTTG	0.323000													19	30					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134013930	134013930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134013930C>T	ENST00000338492.4	+	9	1046	c.882C>T	c.(880-882)aaC>aaT	p.N294N	DPYSL4_ENST00000368627.1_Silent_p.N194N|DPYSL4_ENST00000368629.1_Silent_p.N194N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	294					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGCAAGAACTGGGCCAAGG	0.652000													27	36					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524474	44524474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44524474C>T	ENST00000291552.4	-	2	175	c.83G>A	c.(82-84)cGt>cAt	p.R28H	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R28H|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	28					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCTCCATGACGACATGCTCC	0.363000			Mis		"""CLL, MDS"""								19	23					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62238573	62238573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62238573G>A	ENST00000261517.5	-	44	4986	c.4913C>T	c.(4912-4914)aCt>aTt	p.T1638I	VPS13C_ENST00000395896.4_Missense_Mutation_p.T1638I|VPS13C_ENST00000249837.3_Missense_Mutation_p.T1595I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1595I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1638					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAACACATCAGTCTGCTTAGG	0.318000													18	22					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52860641	52860641	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52860641C>A	ENST00000266041.4	-	5	642	c.546G>T	c.(544-546)caG>caT	p.Q182H	ITIH4_ENST00000485816.1_Missense_Mutation_p.Q182H|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q182H|ITIH4_ENST00000434759.3_Missense_Mutation_p.Q94H|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q182H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	182					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCTGATGCCCTGGGGCTCGA	0.587000													24	23					9.57634e-11	1.18454e-10	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126004064	126004064	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126004064A>G	ENST00000299308.3	+	4	1179	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	391						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCAGCAGATTACCTGGCA	0.502000													7	70					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85942614	85942614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942614G>T	ENST00000268638.5	+	3	615	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	IRF8_ENST00000563180.1_Missense_Mutation_p.G65W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	65					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTTTTTAAAGGGAAGTTTAA	0.473000													13	51					1.5842e-08	1.90059e-08	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43410717	43410717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43410717C>A	ENST00000244533.3	+	8	2511	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L746I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	746	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAAAAGGAGCTCTATCTCCT	0.562000													11	26					4.3838e-07	5.12524e-07	1	1	0
ITFG2	55846	broad.mit.edu	37	12	2930857	2930857	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2930857G>T	ENST00000228799.2	+	9	986		c.e9-1		ITFG2_ENST00000542548.1_Splice_Site|ITFG2_ENST00000419778.2_Splice_Site	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCCCGGCAGGGACACTGAA	0.582000													33	45					5.91797e-21	7.77867e-21	1	1	0
PSPC1	55269	broad.mit.edu	37	13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20315777C>T	ENST00000338910.4	-	5	1139	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	327	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333000													40	44					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43026474	43026474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43026474G>T	ENST00000356231.3	-	7	1230	c.1207C>A	c.(1207-1209)Cca>Aca	p.P403T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	403						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGAGCTGGTGAGAAGCAC	0.562000													21	46					2.4624e-09	2.98951e-09	1	1	0
NOX4	50507	broad.mit.edu	37	11	89106614	89106614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89106614A>G	ENST00000535633.1	-	12	1359	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	NOX4_ENST00000532825.1_Missense_Mutation_p.V350A|NOX4_ENST00000527626.1_Missense_Mutation_p.V208A|NOX4_ENST00000424319.1_Missense_Mutation_p.V350A|NOX4_ENST00000531342.1_Missense_Mutation_p.V67A|NOX4_ENST00000528341.1_Missense_Mutation_p.V349A|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V395A|NOX4_ENST00000375979.3_Missense_Mutation_p.V67A|NOX4_ENST00000542487.1_Missense_Mutation_p.V350A|NOX4_ENST00000343727.5_Missense_Mutation_p.V350A|NOX4_ENST00000527956.1_Missense_Mutation_p.V350A|NOX4_ENST00000534731.1_Missense_Mutation_p.V374A|NOX4_ENST00000263317.4_Missense_Mutation_p.V374A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	374	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAGTCTCCTACTATTTTAAG	0.274000													32	93					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57503104	57503104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57503104G>A	ENST00000219252.5	+	5	624	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	96	Cys-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GTTCTGCCCCGAGTGCTCGGT	0.572000													38	48					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236363	42236363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42236363C>A	ENST00000541110.1	-	5	1534	c.966G>T	c.(964-966)caG>caT	p.Q322H	TRERF1_ENST00000372917.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q322H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	322	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGAGGTATCTGCATTGAAC	0.587000													5	73					1.23904e-05	1.39987e-05	1	1	0
DLC1	10395	broad.mit.edu	37	8	13357024	13357024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13357024G>T	ENST00000276297.4	-	2	966	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DLC1_ENST00000316609.5_Missense_Mutation_p.S186Y|DLC1_ENST00000511869.1_Missense_Mutation_p.S186Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	186					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACTTATAGAGTCAGTAAC	0.363000													56	93					4.58403e-41	6.18418e-41	1	1	0
PRRX1	5396	broad.mit.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562000													20	42					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619587	8619587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8619587T>C	ENST00000338257.8	-	3	449	c.182A>G	c.(181-183)aAg>aGg	p.K61R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	61	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCATCTGCTTGAAGGGGTT	0.607000													6	73					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621608	621608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:621608C>T	ENST00000358353.3	-	6	783	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CDHR5_ENST00000349570.7_Missense_Mutation_p.R154H|CDHR5_ENST00000397542.2_Missense_Mutation_p.R154H			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCCTTGTCGCGGTCCTCAGC	0.637000													29	47					0	0	1	0	0
NEURL	0	broad.mit.edu	37	10	105349997	105349997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105349997G>A	ENST00000369780.4	+	6	2002	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.T514T	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		531					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGGTGGACACGGTCATCTACA	0.637000													23	42					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673327	141673327	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141673327A>G	ENST00000547270.1	-	1	246	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	55					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGCACACAATCACTGTTG	0.498000													4	86					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128767870	128767870	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128767870G>A	ENST00000357702.5	-	7	1051	c.920C>T	c.(919-921)gCg>gTg	p.A307V	SAP130_ENST00000259235.3_Missense_Mutation_p.A307V|SAP130_ENST00000259234.6_Missense_Mutation_p.A281V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	307					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCATGCGCCGCTGTCGTAGT	0.517000													8	26					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324243G>A	ENST00000428797.2	+	11	1541	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000													41	53					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587000													32	52					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127159	45127159	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45127159G>A	ENST00000575173.1	-	0	418																											CCAAGGGCGCGCCTTCTACCT	0.522000													6	54					0	0	1	0	0
TCL6	0	broad.mit.edu	37	14	96134556	96134556	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96134556G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGGCTCGGACGAAGTGTTTCC	0.473000			T	TRA@	T-ALL								36	51					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077072	81077072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81077072C>A	ENST00000566488.1	+	3	1464	c.501C>A	c.(499-501)tcC>tcA	p.S167S	ATMIN_ENST00000299575.4_Silent_p.S323S|ATMIN_ENST00000564241.1_Silent_p.S167S|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	323					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGCCGACTCCTCAGCCCAGC	0.517000													31	58					4.11147e-13	5.20562e-13	1	1	0
BMPER	168667	broad.mit.edu	37	7	34125702	34125702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34125702C>T	ENST00000297161.2	+	14	2117	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	BMPER_ENST00000426693.1_Silent_p.Y581Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	581					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACTTTCTACCGGTAAGTAC	0.483000													16	38					0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972809	110972809	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110972809G>A	ENST00000394607.3	-	5	646	c.483C>T	c.(481-483)gcC>gcT	p.A161A	ELOVL6_ENST00000302274.3_Silent_p.A161A			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	161					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AACCTCCCCCGGCAACCATGT	0.507000													3	35					0	0	1	0	0
GBAP1	0	broad.mit.edu	37	1	155188193	155188193	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155188193C>T	ENST00000486869.1	-	0	173					NR_002188.2																						CTGATGCCCACGACACTGCCT	0.542000													13	148					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766665	111766665	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111766665G>A	ENST00000452346.2	+	7	813	c.810G>A	c.(808-810)agG>agA	p.R270R	TMPRSS7_ENST00000419127.1_Silent_p.R144R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	270	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCAGGGAGGCTGATGTGTC	0.517000													16	22					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92436087	92436087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92436087G>A	ENST00000267622.4	-	21	6243	c.5870C>T	c.(5869-5871)aCa>aTa	p.T1957I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1957					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGGTGTAAATGTGGGCAAAAC	0.502000			T	PDGFRB	AML								5	73					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43851062	43851062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43851062G>A	ENST00000420765.1	-	29	3498	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	PPIP5K1_ENST00000396923.3_Missense_Mutation_p.R1106C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1102C|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1082C	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1106					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTCACTTGACGTAGGGAAAGG	0.473000													41	43					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8430878	8430878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8430878T>C	ENST00000301455.2	+	2	530	c.359T>C	c.(358-360)tTc>tCc	p.F120S	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.F120S|ANGPTL4_ENST00000541807.1_5'UTR	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	120					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGCAACTCTTCCACAAGGTG	0.552000													16	17					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215959	46215959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215959G>A	ENST00000317683.3	-	2	928	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	265							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGTTGGAGATGCGGAAGG	0.731000													3	18					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260120	28260120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28260120C>A	ENST00000305242.5	-	8	1151	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ARMC4_ENST00000537576.1_Missense_Mutation_p.K45N|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K210N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	353							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTTGGTTCTTCTCCAGTG	0.423000													31	62					1.80694e-10	2.22694e-10	1	1	0
ARL14EP	120534	broad.mit.edu	37	11	30354443	30354443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30354443C>T	ENST00000282032.3	+	3	672	c.457C>T	c.(457-459)Caa>Taa	p.Q153*	ARL14EP_ENST00000533457.1_3'UTR	NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		GAGGTCATTACAATTTACGAA	0.353000													5	60					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570584	570584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:570584C>T	ENST00000262305.4	+	13	2530	c.2142C>T	c.(2140-2142)tcC>tcT	p.S714S	RAB11FIP3_ENST00000450428.1_Silent_p.S418S|RAB11FIP3_ENST00000457159.1_Silent_p.S759S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	714	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAGCTCCGTCTCCCGAG	0.597000													50	56					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210419	100210419	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210419G>T	ENST00000317233.4	-	14	1939	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	AFF3_ENST00000409236.1_Silent_p.P568P|AFF3_ENST00000409579.1_Silent_p.P593P|AFF3_ENST00000356421.2_Silent_p.P593P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	568					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCGCACAGGGCACTGCGG	0.751000													5	29					1.23904e-05	1.39987e-05	1	1	0
SLMO2	51012	broad.mit.edu	37	20	57610078	57610078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57610078G>A	ENST00000355937.4	-	6	747	c.569C>T	c.(568-570)gCg>gTg	p.A190V	SLMO2_ENST00000371033.5_Missense_Mutation_p.A160V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	190										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCTGCAAACGCTGCTGCTGC	0.403000													14	19					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45399573	45399573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45399573G>T	ENST00000389039.6	-	14	2048	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	DUOX2_ENST00000603300.1_Missense_Mutation_p.L555M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	555	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGGCTGCAGGGCACTGGGG	0.537000													6	105					3.59834e-05	4.01776e-05	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10480458	10480458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10480458C>T	ENST00000382483.3	-	2	477	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	85					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATGCAGGCCCCGGGGTGTGGT	0.652000													10	18					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509327	228509327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509327G>A	ENST00000570156.2	+	66	17730	c.17656G>A	c.(17656-17658)Gcc>Acc	p.A5886T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2563T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2048T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4929T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4929T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4929					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGTGCGAGCCCGCTGGCT	0.637000													18	21					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117246731	117246731	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246731C>A	ENST00000332958.2	+	16	1810	c.1794C>A	c.(1792-1794)acC>acA	p.T598T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	598					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGAGACAACCTATCTCCCTC	0.542000													38	41					1.36161e-19	1.78291e-19	1	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43531164	43531164	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531164A>G	ENST00000430334.3	-	7	2187	c.2054T>C	c.(2053-2055)aTc>aCc	p.I685T	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.I596T	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	685	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGACTCCTTGATGGCATCTGG	0.567000													26	47					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58559985	58559985	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559985C>A	ENST00000317147.5	-	45	6843	c.6511G>T	c.(6511-6513)Gta>Tta	p.V2171L	CNOT1_ENST00000569240.1_Missense_Mutation_p.V2166L|CNOT1_ENST00000245138.4_Missense_Mutation_p.V1022L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2171					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTGGCATTACTCCAGTGAAA	0.413000													33	62					1.36615e-20	1.79416e-20	1	1	0
ZFP64	55734	broad.mit.edu	37	20	50769213	50769213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50769213G>A	ENST00000216923.4	-	6	1867	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	ZFP64_ENST00000346617.4_Silent_p.P452P|ZFP64_ENST00000371515.4_Silent_p.P504P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTTCGCCTGGGGCACCTGAT	0.652000													14	17					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65319442	65319442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65319442C>T	ENST00000301873.5	-	8	1800		c.e8+1		LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3							extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCAGGCTAGACCTCTCTCTTC	0.602000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	98					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988801	21988801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988801G>T	ENST00000292779.3	+	3	724	c.563G>T	c.(562-564)aGg>aTg	p.R188M		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCTGTGAGGGACAAACTC	0.627000													6	44					3.59834e-05	4.01776e-05	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10470542	10470542	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470542C>A	ENST00000382483.3	-	4	1289	c.1066G>T	c.(1066-1068)Gac>Tac	p.D356Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	356					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAACGGGGTCTTCCCCACTG	0.682000													31	63					1.88708e-17	2.44853e-17	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29454613	29454613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29454613C>A	ENST00000283351.4	-	13	2118	c.1783G>T	c.(1783-1785)Ggc>Tgc	p.G595C	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G595C|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G541C	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	595					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGACCAGCCTTTTCCTTTG	0.363000													25	55					6.07407e-21	7.98272e-21	1	1	0
FSTL1	11167	broad.mit.edu	37	3	120121677	120121677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120121677G>A	ENST00000295633.3	-	9	1139	c.783C>T	c.(781-783)gtC>gtT	p.V261V	FSTL1_ENST00000424703.2_Silent_p.V226V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	261	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGCTGTACAGACCCAATTTC	0.522000													24	60					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691371	153691371	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408000													39	90					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430170	76430170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76430170C>T	ENST00000388942.3	+	3	437	c.161C>T	c.(160-162)gCt>gTt	p.A54V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	54						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTGGCTGCTGTCGATCTC	0.522000													7	79					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56658533	56658533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56658533G>A	ENST00000431842.2	-	16	4070	c.3146C>T	c.(3145-3147)gCt>gTt	p.A1049V	FAM208A_ENST00000493960.2_Missense_Mutation_p.A1486V|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000355628.5_Missense_Mutation_p.A1425V	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1486										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ATTCTCATTAGCACCAAGCTG	0.378000													6	111					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134583151	134583151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134583151G>T	ENST00000367858.5	-	2	802	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	SGK1_ENST00000524929.1_Missense_Mutation_p.L69M	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGTTCACCCAGGCATGTTTGA	0.527000													10	119					0.0581538	0.0593651	1	1	0
FAM159A	348378	broad.mit.edu	37	1	53122674	53122674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53122674T>C	ENST00000517870.1	+	3	685	c.535T>C	c.(535-537)Tct>Cct	p.S179P	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	179						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAGGAAGCCTCTGTACCCAA	0.527000													20	279					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746082	94746082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94746082C>A	ENST00000399300.2	-	3	2770	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E733*|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	853							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCGGAGCTTCCCTAAGGTCT	0.527000													7	82					2.7689e-08	3.31013e-08	1	1	0
SOS2	6655	broad.mit.edu	37	14	50623748	50623748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50623748G>A	ENST00000216373.5	-	12	2300	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R643C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	676	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTCCTTGCGAAATCTTTTA	0.358000													7	7					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973325	73973325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73973325C>A	ENST00000476977.1	+	21	3933	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L763M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L780M|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L748M|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	763						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCCAGAACCTGGAGAGGAT	0.577000													6	80					5.18039e-06	5.91835e-06	1	1	0
RP11-175P13.3	0	broad.mit.edu	37	12	100567088	100567088	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100567088C>A	ENST00000548404.2	-	0	813				GOLGA2B_ENST00000397112.4_RNA																							GGGGTATGGCCTTAATGCTCC	0.507000													3	14					0.115264	0.117355	1	1	0
ADCY2	108	broad.mit.edu	37	5	7816988	7816988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7816988C>T	ENST00000338316.4	+	23	2982	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R785W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCCCGAGCGGCAGTACAT	0.507000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928214	230928214	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230928214T>G	ENST00000354537.1	+	15	1769	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.F526V|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000271971.2_Missense_Mutation_p.F589V|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	589	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTCAAAGTGTTCTGGGACAA	0.527000													13	100					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905746	164905746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164905746G>A	ENST00000475390.1	-	2	3316	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A958V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	958						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAAGTTTGGCCCTTAACTC	0.428000										HNSCC(40;0.11)			15	181					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19503154	19503154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19503154C>T	ENST00000375267.2	-	20	2708	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	UBR4_ENST00000375254.3_Missense_Mutation_p.R902Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R902Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	902					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGTTGCCCGGCGGCTGTT	0.428000													10	46					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305146	48305146	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48305146C>A	ENST00000535759.1	-	4	1412	c.1413G>T	c.(1411-1413)caG>caT	p.Q471H	TPRX1_ENST00000322175.3_Missense_Mutation_p.Q374H|TPRX1_ENST00000543508.1_Missense_Mutation_p.Q364H			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	374						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTTCTTGGTACTGAGAGGTCA	0.537000													5	113					0.00116845	0.00124821	1	1	0
ETS1	2113	broad.mit.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128350152G>A	ENST00000392668.3	-	8	1125	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W|ETS1_ENST00000319397.5_Missense_Mutation_p.R309W|ETS1_ENST00000526145.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	309					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597000													14	31					0	0	1	0	0
AANAT	15	broad.mit.edu	37	17	74465918	74465918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74465918C>A	ENST00000250615.3	+	7	1632	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	AANAT_ENST00000392492.3_Missense_Mutation_p.L164M	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	164					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CGAGGACGCGCTGGTACCCTT	0.711000													6	4					8.12818e-05	8.99451e-05	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010251	40010251	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010251A>C	ENST00000319121.3	-	2	1928	c.1868T>G	c.(1867-1869)aTt>aGt	p.I623S		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	623						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTGTTTATCAATATCATCACT	0.453000													35	51					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046261	69046261	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69046261C>A	ENST00000295381.3	+	9	1426	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	336	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAGGGACTCCTCAGATCCAA	0.493000													22	242					3.28513e-13	4.1605e-13	1	1	0
PEX11G	92960	broad.mit.edu	37	19	7550889	7550889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7550889G>A	ENST00000221480.1	-	2	92	c.84C>T	c.(82-84)tgC>tgT	p.C28C	PEX11G_ENST00000593942.1_5'UTR	NM_080662.2	NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	28						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CAACCAGCTGGCAGCAGTACC	0.607000													9	13					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643465	104643465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104643465G>T	ENST00000315264.7	+	11	4301	c.3923G>T	c.(3922-3924)aGc>aTc	p.S1308I	KIF26A_ENST00000423312.2_Missense_Mutation_p.S1447I			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1447					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCGCACAGCAGCAGCAAG	0.701000													8	6					2.74318e-10	3.37541e-10	1	1	0
PCDHB7	0	broad.mit.edu	37	5	140554240	140554240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554240G>A	ENST00000231137.3	+	1	1998	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGCTCAAGGCCACGGAGC	0.711000													9	81					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131291536	131291536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131291536G>A	ENST00000261653.6	-	6	620	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	STX2_ENST00000392373.2_Silent_p.L152L	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	152					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTTATCTCCAGCTGGCGCTGG	0.478000													25	53					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557572	154557572	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154557572G>A	ENST00000409959.3	+	35	4726	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	KIAA0922_ENST00000409663.3_Silent_p.S1558S|KIAA0922_ENST00000440693.1_Silent_p.S1475S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1558						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGGAACATTCGACCCACATGG	0.522000													39	45					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20224082	20224082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20224082G>A	ENST00000375120.3	+	4	534	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	178	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCATATCGGTATGGAGAG	0.507000													16	31					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151829607	151829607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151829607C>T	ENST00000535741.1	-	11	1845	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	LRBA_ENST00000357115.3_Missense_Mutation_p.V458I|LRBA_ENST00000507224.1_Missense_Mutation_p.V458I|LRBA_ENST00000510413.1_Missense_Mutation_p.V458I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	458						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGTTAAAACTGCCTTTACA	0.328000													8	26					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178421775	178421775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178421775C>T	ENST00000448150.3	+	11	2761	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	RASAL2_ENST00000367649.3_Missense_Mutation_p.A666V|RASAL2_ENST00000462775.1_Missense_Mutation_p.A518V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	518					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAACCTGGCCAACTTTGCC	0.428000													6	95					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578926	9578926	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578926T>C	ENST00000301480.4	-	10	910	c.697A>G	c.(697-699)Atg>Gtg	p.M233V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGTACTCATGTTGGTCTTA	0.378000													8	85					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804212	43804212	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804212G>T	ENST00000372470.3	+	3	254		c.e3-1		MPL_ENST00000413998.2_Splice_Site	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene						cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TATGCCAACAGGGAGAAGCCC	0.587000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						9	34					0.00621372	0.00652201	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106797649	106797649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106797649G>A	ENST00000276185.4	+	9	776	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	259	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGAATGAAATGCCTCTTCCGA	0.502000													6	12					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507082	155507082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155507082A>G	ENST00000302053.3	-	5	1577	c.1499T>C	c.(1498-1500)tTg>tCg	p.L500S	FGA_ENST00000403106.3_Missense_Mutation_p.L500S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	500					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TATGCCAGACAATGTGCCTAA	0.488000													8	88					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999910	3999910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3999910C>T	ENST00000381638.2	-	10	1881	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	586							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATAATTCTTATCTGTGT	0.343000													13	153					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25819872	25819872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25819872G>A	ENST00000399878.3	-	9	1574	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	SEL1L3_ENST00000502949.1_Silent_p.L331L|SEL1L3_ENST00000264868.5_Silent_p.L449L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	484						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGCGCTGGAGGTCCAGGT	0.547000													5	4					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21229457	21229457	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21229457T>C	ENST00000540229.1	+	15	2067	c.2002T>C	c.(2002-2004)Tgt>Cgt	p.C668R	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.C560R|RP11-125O5.2_ENST00000590779.1_Silent_p.A60A|LST3_ENST00000381541.3_Missense_Mutation_p.C607R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C607R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C668R																							CACCAACAGCTGTGGAGCACG	0.348000													85	121					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47307308	47307308	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47307308C>T	ENST00000335044.2	-	8	1185	c.828G>A	c.(826-828)gaG>gaA	p.E276E	KIF9_ENST00000444589.2_Silent_p.E276E|KIF9_ENST00000452770.2_Silent_p.E276E|KIF9_ENST00000352910.4_Silent_p.E183E|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.E276E	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	276					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATGGCCTGCTCCAGGAATG	0.542000													31	77					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418000													97	178					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37008826	37008826	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37008826G>T	ENST00000282516.8	+	20	4920		c.e20+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAACTTCAGGTAATTAATTA	0.289000													27	65					1.39806e-14	1.78606e-14	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656869	656869	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656869G>A	ENST00000380907.2	-	1	94	c.76C>T	c.(76-78)Cta>Tta	p.L26L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	26										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACCTTCGCTAGCCTCGCGACG	0.667000													13	20					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57158493	57158493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57158493G>A	ENST00000376149.3	-	6	900	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	TRIM37_ENST00000262294.7_Missense_Mutation_p.R153C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119C|TRIM37_ENST00000393066.3_Missense_Mutation_p.R153C			O94972	TRI37_HUMAN	tripartite motif containing 37	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCATGAGACGCCGACGAAGT	0.318000									Mulibrey Nanism				61	71					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55449462	55449462	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55449462C>A	ENST00000401408.1	-	3	431	c.86G>T	c.(85-87)aGa>aTa	p.R29I	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.R29I|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		AATTATGTATCTTTGCACACT	0.348000													30	83					2.85442e-18	3.71821e-18	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940549	144940549	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940549C>T	ENST00000525985.1	-	2	6944	c.6873G>A	c.(6871-6873)gtG>gtA	p.V2291V				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCGCCCACCACGCCCGCGG	0.721000													7	42					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9487358	9487358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9487358A>C	ENST00000402466.1	+	14	1932	c.1164A>C	c.(1162-1164)gaA>gaC	p.E388D	SETD5_ENST00000302463.6_Missense_Mutation_p.E388D|SETD5_ENST00000406341.1_Missense_Mutation_p.E486D|SETD5_ENST00000407969.1_Missense_Mutation_p.E505D|SETD5_ENST00000402198.1_Missense_Mutation_p.E486D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	486	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAATCCAGAAGAAAAACCAG	0.393000													17	33					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212293204	212293204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212293204G>A	ENST00000342788.4	-	22	2958	c.2648C>T	c.(2647-2649)cCa>cTa	p.P883L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P873L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P883L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	883	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P883L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCATTTAATTGGCATCTATAG	0.328000										TSP Lung(8;0.080)			28	25					0	0	1	0	0
POMP	51371	broad.mit.edu	37	13	29242705	29242705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29242705G>T	ENST00000380842.4	+	4	339	c.258G>T	c.(256-258)gtG>gtT	p.V86V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	86					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCAAGGCAGTGCAGCAGGTGA	0.378000													6	40					3.59834e-05	4.01776e-05	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28530324	28530324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28530324G>A	ENST00000401766.2	-	13	2196	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.Q562*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	562					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGTCGTAGTTGTGGCGGGCTC	0.363000													37	73					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553015	19553015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:19553015G>T	ENST00000536433.1	-	1	3662	c.552C>A	c.(550-552)ttC>ttA	p.F184L	OSR1_ENST00000272223.2_Missense_Mutation_p.F184L			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	184					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGACTTGGTGAAGTGGCGGC	0.562000													36	63					1.7489e-18	2.28119e-18	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79955198	79955198	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79955198A>G	ENST00000360280.3	+	49	7139	c.6879_splice	c.e49+1	p.Q2293_splice	VPS13A_ENST00000376634.4_Splice_Site_p.Q2293_splice|VPS13A_ENST00000357409.5_Splice_Site_p.Q2293_splice|VPS13A_ENST00000376636.3_Splice_Site_p.Q2254_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2293					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGACTATCAAGTGAGTTCAT	0.284000													5	105					0	0	1	0	0
LINC00521	0	broad.mit.edu	37	14	94464466	94464466	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94464466G>A	ENST00000444118.1	+	0	146					NR_024182.1																						CATAGCTTGCGGTGGTGAGGT	0.572000													4	18					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227784	7227784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227784G>A	ENST00000399464.2	-	10	1844	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T610I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T588I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCATTCCCAGTCATCATCCA	0.627000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37297432	37297432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297432C>A	ENST00000233099.5	-	7	963	c.868G>T	c.(868-870)Gga>Tga	p.G290*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G290*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	290							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACATTTCTCCACCGCTCTTT	0.453000													12	139					9.31168e-06	1.06029e-05	1	1	0
WISP1	8840	broad.mit.edu	37	8	134225108	134225108	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134225108C>T	ENST00000250160.6	+	2	177	c.69_splice	c.e2-1	p.A24_splice	WISP1_ENST00000220856.6_Splice_Site_p.A24_splice|WISP1_ENST00000517423.1_Splice_Site_p.A24_splice|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	24					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCCGCAGGCCCTCTCTCCA	0.617000													3	3					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34610806	34610806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34610806G>A	ENST00000297613.4	-	2	768	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RPP25L_ENST00000378959.4_Missense_Mutation_p.S163L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	163							nucleic acid binding										AGGTCTTCACGATCGGGTGTC	0.607000													31	58					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69457922	69457922	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69457922T>C	ENST00000227507.2	+	2	549	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	108	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CACTTGCATGTTCGTGGCCTC	0.617000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			4	13					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035646	16035646	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16035646A>G	ENST00000326742.7	-	5	573	c.572T>C	c.(571-573)aTg>aCg	p.M191T	CYP4F11_ENST00000248041.7_Missense_Mutation_p.M191T|CYP4F11_ENST00000402119.3_Missense_Mutation_p.M191T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	191					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTTCAAACATGTCCAGTCT	0.532000													12	20					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471408	44471408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44471408G>T	ENST00000251269.5	+	6	2082	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I	ZNF221_ENST00000592350.1_Missense_Mutation_p.S585I|ZNF221_ENST00000587682.1_Missense_Mutation_p.S585I	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGACTCCACAGTGGAGAAAAG	0.448000													7	76					2.7689e-08	3.31013e-08	1	1	0
NSF	4905	broad.mit.edu	37	17	44788360	44788360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44788360G>A	ENST00000398238.4	+	14	1609	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N	NSF_ENST00000225282.8_Missense_Mutation_p.S407N|NSF_ENST00000575068.1_Missense_Mutation_p.S496N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	501					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATTATGCAAGTTACATTATG	0.413000													32	47					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	836123	836123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:836123C>T	ENST00000397420.3	+	3	303	c.54C>T	c.(52-54)taC>taT	p.Y18Y	CD151_ENST00000322008.4_Silent_p.Y18Y|CD151_ENST00000397421.1_Silent_p.Y18Y|CD151_ENST00000528011.1_Silent_p.Y18Y			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	18					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCAAGTACCTGCTGTTTA	0.632000													11	17					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987806	50987806	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50987806A>G	ENST00000395676.2	+	1	1345	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	404										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCCTGGACGGGCTGCTC	0.652000													10	68					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958553	121958553	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:121958553C>T	ENST00000379692.4	-	4	1099	c.573G>A	c.(571-573)acG>acA	p.T191T	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	191										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCAAAGTGACCGTGGTGCGCC	0.478000													45	89					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395048	109395048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109395048G>T	ENST00000370001.3	-	2	507	c.239C>A	c.(238-240)gCt>gAt	p.A80D	AKNAD1_ENST00000369994.1_Missense_Mutation_p.A80D|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A80D|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	80										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGTTGGCAGCATTTTCAGT	0.393000													8	189					0.0581538	0.0593651	1	1	0
VWA5A	4013	broad.mit.edu	37	11	123988405	123988405	+	Silent	SNP	C	C	T	rs145152039	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988405C>T	ENST00000456829.2	+	4	320	c.69C>T	c.(67-69)agC>agT	p.S23S	VWA5A_ENST00000392744.4_Silent_p.S39S|VWA5A_ENST00000449321.1_Silent_p.S23S|VWA5A_ENST00000360334.4_Silent_p.S23S|VWA5A_ENST00000361352.5_Silent_p.S23S|VWA5A_ENST00000392748.1_Silent_p.S23S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	23	VIT.							p.S23S(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCTGTGAGCGTGAACATTT	0.458000													24	43					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347827	91347827	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347827G>A	ENST00000358859.2	-	1	1126	c.693C>T	c.(691-693)tcC>tcT	p.S231S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGTCGTTTCCGGAGGATCTGG	0.637000													57	162					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59730237	59730237	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59730237C>A	ENST00000395125.1	+	1	65	c.42C>A	c.(40-42)atC>atA	p.I14I	DAAM1_ENST00000556135.1_Silent_p.I14I|DAAM1_ENST00000351081.1_Silent_p.I14I|DAAM1_ENST00000360909.3_Silent_p.I14I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	14					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCATTCATCTTTTGCTGTT	0.438000													10	86					0.00136819	0.00146042	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144918898G>A	ENST00000529945.1	-	6	2216	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	430					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438000			T	PDGFRB	MPD								32	664					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60234484	60234484	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60234484C>A	ENST00000534668.1	+	6	915	c.626C>A	c.(625-627)gCt>gAt	p.A209D	MS4A1_ENST00000528313.1_Missense_Mutation_p.A42D|MS4A1_ENST00000532073.1_Missense_Mutation_p.A196D|MS4A1_ENST00000345732.4_Missense_Mutation_p.A209D|MS4A1_ENST00000389939.2_Missense_Mutation_p.A209D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	209					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTTGTAATAGCTGGCATCGTT	0.423000													37	56					1.08169e-08	1.30067e-08	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2774977	2774977	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2774977G>T	ENST00000380605.2	-	14	2128	c.2064C>A	c.(2062-2064)acC>acA	p.T688T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	688					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCTTCAAAGGTGACCCGAC	0.632000													13	26					2.61681e-11	3.25769e-11	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47663813	47663813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47663813C>A	ENST00000254480.5	-	25	2784	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	889					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTTCTTTCTTCCACTGCA	0.373000													58	87					2.66076e-39	3.58773e-39	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12122175	12122175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122175C>T	ENST00000379388.2	+	4	2479	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	716			T -> A (in dbSNP:rs2228210).		transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGTCACCACGTCAACACCC	0.527000													24	27					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231795	7231795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231795C>T	ENST00000379938.2	+	10	4000	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	RREB1_ENST00000349384.6_Missense_Mutation_p.R1155W|RREB1_ENST00000379933.3_Missense_Mutation_p.R1155W|RREB1_ENST00000334984.6_Missense_Mutation_p.R1155W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1155					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAGAGGGGCCGGAAAAGGGG	0.677000													9	11					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38960630	38960630	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38960630C>T	ENST00000272252.5	+	7	1204	c.951_splice	c.e7-1	p.P318_splice	GALM_ENST00000410063.1_Splice_Site_p.P170_splice	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	318					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCTTCACAGCCCCGCTTCCC	0.532000													33	79					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337285	144337285	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:144337285G>T	ENST00000370493.3	+	2	929	c.170G>T	c.(169-171)aGg>aTg	p.R57M		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	57								p.R57M(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCTACAGGAAAGCTAAG	0.438000													32	62					1.74807e-11	2.18057e-11	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802047	34802047	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34802047C>A	ENST00000192788.5	+	5	563	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S131Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	131										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATTGTCAATTCTATCACCATC	0.453000													8	30					0.000442599	0.00048047	1	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78317661	78317661	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78317661C>T	ENST00000409931.3	-	5	1097	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TBC1D2B_ENST00000300584.3_Silent_p.L342L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	342						intracellular	protein binding|Rab GTPase activator activity	p.L342L(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGGACCTGCAGTTGCATTT	0.532000													10	87					0	0	1	0	0
CD37	0	broad.mit.edu	37	19	49840409	49840409	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49840409T>C	ENST00000535669.2	+	4	387	c.273T>C	c.(271-273)ttT>ttC	p.F91F	CD37_ENST00000596426.1_3'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Silent_p.F23F|CD37_ENST00000323906.4_Silent_p.F91F|CD37_ENST00000426897.2_Silent_p.F23F			P11049	CD37_HUMAN	CD37 molecule	91						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGTATTTTGGGATGCTGC	0.607000													5	53					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78314123	78314123	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78314123G>C	ENST00000582970.1	+	26	6099	c.5956G>C	c.(5956-5958)Gtt>Ctt	p.V1986L	RNF213_ENST00000336301.6_Missense_Mutation_p.V59L|RNF213_ENST00000508628.2_Missense_Mutation_p.V2035L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGCTGTGTGTTGGGATCGT	0.687000													8	17					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219527966	219527966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219527966G>A	ENST00000431802.1	+	8	1816	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BCS1L_ENST00000439945.1_Missense_Mutation_p.A373T|BCS1L_ENST00000392111.2_Missense_Mutation_p.A373T|BCS1L_ENST00000359273.3_Missense_Mutation_p.A373T|BCS1L_ENST00000392109.1_Missense_Mutation_p.A373T|BCS1L_ENST00000412366.1_Missense_Mutation_p.A373T|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392110.2_Missense_Mutation_p.A373T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	373					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGGGCAGGCACCTTCCTT	0.542000													22	36					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665575	155665575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665575G>T	ENST00000336356.3	+	2	350	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	LRAT_ENST00000507827.1_Missense_Mutation_p.D33Y	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	33					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGCGGGCGAAGACAAAGGGAG	0.562000													28	34					6.12954e-19	8.01027e-19	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10555162	10555162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10555162C>T	ENST00000304519.5	+	3	324	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	99										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TAGAGATTACCGGGGCCATTT	0.567000													51	76					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692000													25	19					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88853609	88853609	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88853609G>T	ENST00000537554.1	-	2	4947	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CNR1_ENST00000428600.2_Missense_Mutation_p.S462Y|CNR1_ENST00000369499.2_Missense_Mutation_p.S462Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S429Y|CNR1_ENST00000549716.1_Missense_Mutation_p.S401Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.S462Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S462Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S462Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	462					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGACACAGACATGGTTAC	0.502000													96	182					1.90054e-66	2.57256e-66	1	1	0
NPAT	4863	broad.mit.edu	37	11	108059858	108059858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108059858G>A	ENST00000278612.8	-	6	636	c.531C>T	c.(529-531)caC>caT	p.H177H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	177	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTGACTGTGAGTGGTTGACCA	0.368000													25	41					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156880106	156880106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156880106A>G	ENST00000338302.3	+	15	1984	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	PEAR1_ENST00000292357.7_Missense_Mutation_p.T587A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	587	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAATGGGGGCACCTGTCTCCC	0.637000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	148					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525904	176525904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176525904G>A	ENST00000367662.3	+	2	1610	c.446G>A	c.(445-447)gGc>gAc	p.G149D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	149					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTATCTCGGCAATCAAAGA	0.552000													50	107					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76130984	76130984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76130984C>A	ENST00000318430.5	+	9	1395	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	TMC8_ENST00000589691.1_Missense_Mutation_p.P118T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	341						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTACCTGCCCCCTGGGGTCAT	0.647000													5	27					0.000602214	0.000649039	1	1	0
PPP1R26	9858	broad.mit.edu	37	9	138379220	138379220	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379220G>T	ENST00000356818.2	+	4	3413	c.2864G>T	c.(2863-2865)aGg>aTg	p.R955M	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R955M	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	955						nucleolus	protein binding										TCAGTGAGCAGGAGAAATGTT	0.657000													28	37					4.06085e-26	5.40767e-26	1	1	0
SV2A	0	broad.mit.edu	37	1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547000													29	80					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267442	48267442	+	Missense_Mutation	SNP	G	G	A	rs137858399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48267442G>A	ENST00000302329.3	+	1	835	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGACAAGATGGTGGCTGTGTT	0.507000													29	46					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49247380	49247380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49247380G>A	ENST00000327979.2	-	2	416	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L|FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662000													4	7					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53345266	53345266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:53345266G>A	ENST00000226067.5	+	2	743	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HLF_ENST00000573945.1_Silent_p.E5E|HLF_ENST00000575345.1_Silent_p.E5E|HLF_ENST00000430986.2_Silent_p.E5E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	90					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ACCTGGAGGAGTTTTTGTCAG	0.582000			T	TCF3	ALL								45	74					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34470767	34470767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34470767G>A	ENST00000241052.4	+	2	184	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	32					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTGGAGCTGGTAACCCAGTA	0.458000													33	44					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023044	134023044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134023044G>T	ENST00000534548.2	-	34	4443	c.4379C>A	c.(4378-4380)cCt>cAt	p.P1460H	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1460					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGTTTATCAGGCAGTGATAA	0.433000													15	160					3.27435e-08	3.90559e-08	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94685814	94685814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94685814C>T	ENST00000260526.6	-	3	522	c.340_splice	c.e3+1	p.A114_splice	ARHGAP29_ENST00000370217.3_Splice_Site_p.A114_splice	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	114					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCCTTACCTTTCACTTTT	0.368000													13	160					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681088	144681088	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144681088G>T	ENST00000504548.2	+	1	1015	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	TIGD5_ENST00000321385.3_Missense_Mutation_p.G290C	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	339					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATTTGTCCCAGGCGTCAAACG	0.677000													3	12					0.004672	0.0049138	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226822474	226822474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226822474G>A	ENST00000429204.1	-	8	3066	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	ITPKB_ENST00000272117.3_Silent_p.D913D	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	913							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGGGGACGTCATGCTGCA	0.607000													11	14					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244418	100244418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100244418C>T	ENST00000160382.5	-	11	1079	c.973G>A	c.(973-975)Gtg>Atg	p.V325M		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	325					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGTCACCACGTGGCCCACA	0.652000													9	41					0	0	1	0	0
NNAT	4826	broad.mit.edu	37	20	36151087	36151087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36151087C>T	ENST00000062104.2	+	3	289	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000467603.1_Intron|NNAT_ENST00000346199.2_Nonsense_Mutation_p.Q31*	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	58					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GTACTCCCTGCAGAAGCTGGC	0.692000													4	6					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958942	78958942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958942C>A	ENST00000370756.3	+	2	751	c.514C>A	c.(514-516)Ctt>Att	p.L172I	PTGFR_ENST00000370758.1_Missense_Mutation_p.L172I|PTGFR_ENST00000370757.3_Missense_Mutation_p.L172I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	172					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTGCCCATCCTTGGACATCG	0.373000													14	182					2.32078e-09	2.82054e-09	1	1	0
ANO3	63982	broad.mit.edu	37	11	26556046	26556046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26556046C>T	ENST00000256737.3	+	9	1765	c.913C>T	c.(913-915)Cga>Tga	p.R305*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.R159*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.R289*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.R289*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGCTACTCGAAGCAGAAT	0.348000													22	53					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	515627	515627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:515627C>T	ENST00000453061.2	+	8	1617	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.S415L|PIGG_ENST00000310340.5_Missense_Mutation_p.S496L|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000509768.1_Missense_Mutation_p.S415L|PIGG_ENST00000383028.4_Missense_Mutation_p.S371L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	504					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGTGGCCTCTCGTGGCTGGCG	0.562000													5	43					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118556191	118556191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556191G>A	ENST00000311085.8	+	35	8055	c.7975G>A	c.(7975-7977)Gct>Act	p.A2659T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A2680T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATAGCAATCGCTTCCAGTCA	0.373000													18	27					0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144102376	144102376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144102376T>G	ENST00000520466.1	+	3	423	c.20T>G	c.(19-21)gTg>gGg	p.V7G	LY6E_ENST00000521182.1_Missense_Mutation_p.V7G|LY6E_ENST00000517503.1_Missense_Mutation_p.S101R|LY6E_ENST00000522024.1_Missense_Mutation_p.V7G|LY6E_ENST00000522971.1_Missense_Mutation_p.V7G|LY6E_ENST00000522528.1_Missense_Mutation_p.V7G|LY6E_ENST00000520531.1_Missense_Mutation_p.V7G|LY6E_ENST00000292494.6_Missense_Mutation_p.V7G|LY6E_ENST00000429120.2_Missense_Mutation_p.V7G|LY6E_ENST00000521003.1_Missense_Mutation_p.V7G|LY6E_ENST00000519611.1_Missense_Mutation_p.V7G|LY6E_ENST00000519546.1_Missense_Mutation_p.V7G|LY6E_ENST00000523847.1_Missense_Mutation_p.V7G|LY6E_ENST00000521699.1_Missense_Mutation_p.V7G			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTCTTGCCAGTGCTGCTGGCT	0.612000													19	30					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37329158	37329158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37329158C>T	ENST00000338564.5	-	9	1203	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MEIS2_ENST00000397620.2_Missense_Mutation_p.D165N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D253N|MEIS2_ENST00000557796.2_Missense_Mutation_p.D240N|MEIS2_ENST00000397624.3_Missense_Mutation_p.D165N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D253N|MEIS2_ENST00000219869.9_Missense_Mutation_p.D107N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D253N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D240N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D240N|MEIS2_ENST00000561208.1_Missense_Mutation_p.D253N|MEIS2_ENST00000382766.2_Missense_Mutation_p.D253N	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	253	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTAAACCATCCCCTAGTAGA	0.408000													29	55					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854674	116854674	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116854674C>A	ENST00000374118.3	-	15	1578	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	580					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTACCACCTCCTCCTCCG	0.602000													10	94					0.00829132	0.00869385	1	1	0
GPR113	165082	broad.mit.edu	37	2	26532842	26532842	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26532842G>T	ENST00000311519.1	-	13	3209	c.3210C>A	c.(3208-3210)tcC>tcA	p.S1070S	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTCTGAGGAGGGCCATG	0.552000													17	19					2.23348e-06	2.57349e-06	1	1	0
ATP2C1	27032	broad.mit.edu	37	3	130714955	130714955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130714955C>T	ENST00000510168.1	+	23	2676	c.2126_splice	c.e23+1	p.T709_splice	ATP2C1_ENST00000428331.2_Splice_Site_p.T709_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.T693_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.T693_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.T709_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.T704_splice|ATP2C1_ENST00000422190.2_Splice_Site_p.T709_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.T743_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.T693_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.T654_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.T709_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.T709_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.T693_splice			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	709			T -> M (in HHD).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CAGCTGAGCACGTAAGTTTGC	0.328000									Hailey-Hailey disease				6	116					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587292	125587292	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125587292A>C	ENST00000316519.6	+	6	844	c.638A>C	c.(637-639)aAt>aCt	p.N213T	AACS_ENST00000261686.6_Missense_Mutation_p.N213T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	213					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTTGTCTATAATGGCAAAGAG	0.517000													78	104					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321301	79321301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79321301C>A	ENST00000428286.1	-	8	6012	c.4812G>T	c.(4810-4812)atG>atT	p.M1604I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1963I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1963					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGACTGGCAGCATGGTGTCCT	0.438000													9	99					0.0692343	0.0706532	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97345702	97345702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97345702C>T	ENST00000517309.1	+	13	1656	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PTDSS1_ENST00000522072.1_Missense_Mutation_p.P241S|PTDSS1_ENST00000455950.2_Missense_Mutation_p.P298S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	444					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGACAGCCCACCCAAGCATGC	0.527000											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	84					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658019	49658019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658019C>A	ENST00000252825.4	-	1	662	c.476G>T	c.(475-477)aGc>aTc	p.S159I	HRC_ENST00000595625.1_Missense_Mutation_p.S159I	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	159	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGATGGCTGTGGCTCCT	0.587000													9	44					1.08611e-07	1.2824e-07	1	1	0
CA7	766	broad.mit.edu	37	16	66886638	66886638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66886638C>T	ENST00000394069.3	+	6	803	c.372C>T	c.(370-372)tgC>tgT	p.C124C	CA7_ENST00000338437.2_Silent_p.C180C|RP11-61A14.1_ENST00000551187.1_RNA	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	180					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGTTCAGCTGCTTCAACCCCA	0.592000													15	32					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38151521	38151521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38151521C>T	ENST00000264639.4	+	8	1363	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259W	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCTAATTATCCGGCTGCGGCA	0.547000													61	95					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934888	30934888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30934888G>A	ENST00000355537.3	+	2	566	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTTCCGCTTCAACAGC	0.637000													16	20					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100174574	100174574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100174574C>T	ENST00000287474.5	-	17	2362	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	FRRS1_ENST00000414213.1_3'UTR	NM_001013660.2	NP_001013682.2	Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAGCCAAGGTCTTTGCTTGCT	0.383000													46	38					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406241	103406241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103406241C>T	ENST00000361246.2	-	33	4923	c.4635G>A	c.(4633-4635)aaG>aaA	p.K1545K		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1545					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGCATCTGCTTCTTGCTGT	0.652000													8	163					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70395365	70395365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70395365G>A	ENST00000302243.7	+	5	501	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000443119.2_Missense_Mutation_p.R23Q|DDX19A_ENST00000417604.2_Intron|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GGCTTCAATCGACCCTCCAAG	0.478000													32	27					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115561378	115561378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:115561378G>A	ENST00000490035.1	-	5	1196	c.697C>T	c.(697-699)Cga>Tga	p.R233*	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Nonsense_Mutation_p.R230*	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	233	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAAGCTTGTCGTCCTGTGGTG	0.517000													11	25					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216658	2216658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216658G>A	ENST00000398665.3	+	20	2338	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	768						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCTAGCCGCACCCGACTA	0.697000													15	22					0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139586632	139586632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139586632C>T	ENST00000370536.2	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	198					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592000													5	37					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230841942C>A	ENST00000366667.4	-	3	1075	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607000													14	31					4.36969e-10	5.35656e-10	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103274445	103274445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103274445C>A	ENST00000233969.2	+	2	854	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	238						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTCTACATCCTGGTCTTTGG	0.527000													11	116					1.08611e-07	1.2824e-07	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	53003474	53003474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53003474A>C	ENST00000281741.4	-	6	726	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	119					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACATCAAACAAGGTGTCAGTA	0.308000													6	11					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114149983	114149983	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114149983G>A	ENST00000434316.2	+	2	446	c.87G>A	c.(85-87)gcG>gcA	p.A29A	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A29A	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAGGTGGCGCAGCGTGTGA	0.647000													12	22					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71169509	71169509	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71169509A>G	ENST00000319023.2	+	3	370	c.182A>G	c.(181-183)gAc>gGc	p.D61G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	61	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACGAGTCGGACACCCTCTTG	0.572000													7	92					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93872794	93872794	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93872794T>G	ENST00000513200.3	-	2	110	c.38A>C	c.(37-39)gAc>gCc	p.D13A	KIAA0825_ENST00000312498.7_Missense_Mutation_p.D13A|KIAA0825_ENST00000329378.7_Missense_Mutation_p.D13A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D13A	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	13										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACAATGTAGGTCAAAAGAATT	0.373000													5	38					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	287504	287504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:287504C>A	ENST00000269812.3	-	3	501	c.452G>T	c.(451-453)aGg>aTg	p.R151M	PPAP2C_ENST00000434325.2_Missense_Mutation_p.R95M|PPAP2C_ENST00000327790.3_Missense_Mutation_p.R172M	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	151					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTTTCCCCTGCACACCTT	0.597000													7	94					0.00307968	0.00325696	1	1	0
OPA1	4976	broad.mit.edu	37	3	193333519	193333519	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193333519G>A	ENST00000361510.2	+	3	642	c.408G>A	c.(406-408)gtG>gtA	p.V136V	OPA1_ENST00000392438.3_Silent_p.V136V|OPA1_ENST00000361908.3_Silent_p.V136V|OPA1_ENST00000361828.2_Silent_p.V136V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Silent_p.V136V|OPA1_ENST00000361715.2_Silent_p.V136V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	136					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGATTGTGCCTGACATTG	0.348000													8	201					0	0	1	0	0
AGPAT5	55326	broad.mit.edu	37	8	6605223	6605223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6605223C>T	ENST00000285518.6	+	6	931	c.619C>T	c.(619-621)Cga>Tga	p.R207*	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	207					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GCTAACACCACGAATAAAGGC	0.373000													7	42					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153628932	153628932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153628932C>T	ENST00000424325.2	+	6	645	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RPL10_ENST00000406022.2_Missense_Mutation_p.R102C|RPL10_ENST00000369817.2_Missense_Mutation_p.R153C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCTGCGCAGGGCCAA	0.572000													25	48					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7027207	7027207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7027207G>A	ENST00000535366.1	+	6	1174	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Missense_Mutation_p.R140Q|ENO2_ENST00000229277.1_Missense_Mutation_p.R183Q|ENO2_ENST00000544774.1_Missense_Mutation_p.R140Q|ENO2_ENST00000541477.1_Missense_Mutation_p.R183Q			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	183					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATGCCATGCGACTAGGTGCA	0.537000													19	32					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14563963	14563963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14563963G>A	ENST00000181796.2	-	4	942	c.709C>T	c.(709-711)Cga>Tga	p.R237*	FAM107B_ENST00000496330.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000479731.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378458.2_Nonsense_Mutation_p.R62*|FAM107B_ENST00000468747.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378465.3_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378462.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378470.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000478076.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378467.4_Nonsense_Mutation_p.R62*	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	62										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTGGTCTCGTTTTCTTTTT	0.398000													24	49					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71534977	71534977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71534977G>T	ENST00000370920.3	-	8	1053	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	251	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S251C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433000													4	35					0.000602214	0.000649039	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15649769	15649769	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15649769G>T	ENST00000378076.3	-	17	2024	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	557					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATCAAGGAAGAGCGTCCGTT	0.428000													7	154					8.12818e-05	8.99451e-05	1	1	0
USH1C	10083	broad.mit.edu	37	11	17544785	17544785	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17544785G>A	ENST00000005226.7	-	11	848	c.849C>T	c.(847-849)agC>agT	p.S283S	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Silent_p.S283S|USH1C_ENST00000527720.1_Silent_p.S252S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	283	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATGGTCAGGCTGCGGCTAC	0.582000													57	73					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65558947	65558947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65558947T>G	ENST00000261888.6	-	3	917	c.472A>C	c.(472-474)Aac>Cac	p.N158H	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	158	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATGGAAGTTTTCTAGGCGG	0.493000													23	45					0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155178807	155178807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155178807C>T	ENST00000368376.3	+	1	318	c.212C>T	c.(211-213)gCg>gTg	p.A71V	MTX1_ENST00000316721.4_Missense_Mutation_p.A71V	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	71					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCGACAGCGCTGTCCCGC	0.751000													5	5					0	0	1	0	0
PINX1	54984	broad.mit.edu	37	8	10623373	10623373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10623373G>T	ENST00000426190.2	-	6	567	c.442C>A	c.(442-444)Ctt>Att	p.L148I	SOX7_ENST00000553390.1_Intron|PINX1_ENST00000314787.3_Silent_p.A175A|PINX1_ENST00000519088.1_Missense_Mutation_p.L150I|SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA					PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GGATGGTGAAGGCGCTGGTTG	0.542000													8	177					3.09899e-07	3.63227e-07	1	1	0
FBXW8	26259	broad.mit.edu	37	12	117461972	117461972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117461972G>A	ENST00000455858.2	+	9	1263	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	FBXW8_ENST00000309909.5_Missense_Mutation_p.R463H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	463							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGACCTCCGCAGTGGTAAC	0.582000													4	39					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48370738	48370738	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48370738A>T	ENST00000367574.4	+	5	690	c.185A>T	c.(184-186)aAg>aTg	p.K62M	PORCN_ENST00000359882.4_Missense_Mutation_p.K133M|PORCN_ENST00000355092.3_Missense_Mutation_p.K133M|PORCN_ENST00000537758.1_Missense_Mutation_p.K133M|PORCN_ENST00000361988.3_Missense_Mutation_p.K133M|PORCN_ENST00000355961.4_Missense_Mutation_p.K133M|PORCN_ENST00000326194.6_Missense_Mutation_p.K133M			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	133	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCCATGAAGGCAGTGTCT	0.607000													4	36					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424888	9424888	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9424888A>T	ENST00000378501.2	+	28	2857	c.2842A>T	c.(2842-2844)Aag>Tag	p.K948*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.K960*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.K948*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.K960*|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	948					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAACATGCAAAGGTACAGTG	0.338000													7	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435367	179435367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179435367G>A	ENST00000589042.1	-	326	75716	c.75492C>T	c.(75490-75492)gaC>gaT	p.D25164D	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.D16099D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.D22596D|TTN_ENST00000359218.5_Silent_p.D16224D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.D16291D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.D23523D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23523	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGCAAAGTCGGTGCTCT	0.408000													30	56					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651394	96651394	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:96651394T>A	ENST00000302103.5	+	3	689	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAATTTACCTCAGCAAGCTA	0.463000													8	41					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119754819	119754819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119754819C>T	ENST00000379735.5	-	2	304	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SEC24D_ENST00000280551.6_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433000													22	48					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494887	1494887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1494887C>T	ENST00000283415.3	-	3	553	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	141					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGGGATGGCGTCGAAGTAG	0.652000													5	31					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11872382	11872382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11872382A>G	ENST00000334049.6	+	10	1755	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	GNAL_ENST00000423027.3_Missense_Mutation_p.T306A|GNAL_ENST00000602628.1_Missense_Mutation_p.T99A|GNAL_ENST00000535121.1_Missense_Mutation_p.T306A|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000269162.5_Missense_Mutation_p.T306A	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	306					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGCAAATTATACTGTTCCTGA	0.323000													9	73					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57835094	57835094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57835094G>T	ENST00000321545.4	+	2	408	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACCCAGGAGGAGTGGGGAC	0.507000													8	108					0.000274275	0.000298791	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219602861	219602861	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219602861T>C	ENST00000392102.1	+	3	802	c.462T>C	c.(460-462)ccT>ccC	p.P154P	TTLL4_ENST00000442769.1_Silent_p.P154P|TTLL4_ENST00000258398.4_Silent_p.P154P|TTLL4_ENST00000457313.1_5'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	154					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTCCCTGTCAGTCTCA	0.542000													12	111					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689094	109689094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689094G>T	ENST00000277225.5	+	3	3190	c.2901G>T	c.(2899-2901)caG>caT	p.Q967H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Q967H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGAGCAGCAGGAAGGGCTGA	0.512000													4	57					0.150653	0.152692	1	1	0
DDX11	1663	broad.mit.edu	37	12	31256654	31256654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31256654G>A	ENST00000407793.2	+	26	2926	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.C892Y|DDX11_ENST00000542838.1_Missense_Mutation_p.A894T|DDX11_ENST00000228264.6_Missense_Mutation_p.A868T|DDX11_ENST00000350437.4_Missense_Mutation_p.A844T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	892					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCATTGCTGCTGTGCAGAA	0.602000										Multiple Myeloma(12;0.14)			35	48					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26272246	26272246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272246C>A	ENST00000335473.7	+	24	4421	c.4171C>A	c.(4171-4173)Ctc>Atc	p.L1391I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L1391I|MYO18B_ENST00000407587.2_Missense_Mutation_p.L1392I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1391						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTTGGTTCCCTCCAGCCTCT	0.592000													12	15					6.40141e-05	7.11719e-05	1	1	0
IL23A	51561	broad.mit.edu	37	12	56733533	56733533	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56733533A>G	ENST00000228534.4	+	3	486	c.320A>G	c.(319-321)gAt>gGt	p.D107G		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	107					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTAGGATCGGATATTTTCACA	0.512000													20	67					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34160752	34160752	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34160752A>G	ENST00000257829.3	+	22	2432	c.2226A>G	c.(2224-2226)ggA>ggG	p.G742G	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.G670G	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	742	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACCTGACCGGAGAGCACTCGT	0.517000													8	90					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67880964	67880964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67880964G>A	ENST00000370994.4	-	7	1106	c.992C>T	c.(991-993)aCg>aTg	p.T331M	SERBP1_ENST00000361219.6_Missense_Mutation_p.T337M|SERBP1_ENST00000370990.5_Missense_Mutation_p.T346M|SERBP1_ENST00000370995.2_Missense_Mutation_p.T352M	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	352					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAGCTGAGACGTTATATCATT	0.512000													4	94					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56925731	56925731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56925731C>A	ENST00000333201.9	+	4	364	c.154C>A	c.(154-156)Cca>Aca	p.P52T	ZNF583_ENST00000291598.7_Missense_Mutation_p.P52T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433000													26	72					1.06801e-11	1.33396e-11	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56619325	56619325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56619325C>T	ENST00000321691.3	-	2	1745	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	522										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGAGACATCTGAAAGT	0.507000													18	33					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7820976	7820976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7820976C>T	ENST00000379562.3	-	5	430	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	KIN_ENST00000543003.1_Missense_Mutation_p.C22Y|KIN_ENST00000535925.1_Missense_Mutation_p.C128Y			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	128					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCCACTTTGCACAAGCCTTA	0.393000													25	53					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31202936	31202936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31202936G>A	ENST00000362065.4	+	4	1786	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	FAN1_ENST00000561594.1_Missense_Mutation_p.A499T|FAN1_ENST00000565466.1_Missense_Mutation_p.A499T|FAN1_ENST00000561607.1_Missense_Mutation_p.A499T	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	499					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCTGGTGGACGCCTTTCTCAA	0.458000								Direct reversal of damage					12	44					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74284028	74284028	+	Splice_Site	SNP	C	C	T	rs149079814	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74284028C>T	ENST00000295897.4	+	12	1741	c.1652_splice	c.e12+1	p.T551_splice	ALB_ENST00000415165.2_Splice_Site_p.T359_splice|ALB_ENST00000509063.1_Splice_Site_p.T551_splice|ALB_ENST00000401494.3_Splice_Site_p.T436_splice|ALB_ENST00000503124.1_Splice_Site_p.T401_splice|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	551	Albumin 3.			T -> A (in Ref. 11; CAH18185).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAAACAAACGTGAGGAGTA	0.358000													15	20					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111553567	111553567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111553567T>C	ENST00000354925.2	-	5	1821	c.116A>G	c.(115-117)gAc>gGc	p.D39G	PITX2_ENST00000394598.2_Missense_Mutation_p.D39G|PITX2_ENST00000394595.3_Missense_Mutation_p.D39G|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	39					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCAGGAGAGTCCGTGAACTC	0.657000													19	31					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138183	151138183	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151138183C>A	ENST00000370325.1	-	3	353	c.300G>T	c.(298-300)gaG>gaT	p.E100D	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E100D			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	100					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGGAGATCTCAACAGTGA	0.522000													21	34					3.62473e-10	4.44982e-10	1	1	0
DSP	1832	broad.mit.edu	37	6	7583868	7583868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583868C>T	ENST00000379802.3	+	24	6714	c.6373C>T	c.(6373-6375)Ctg>Ttg	p.L2125L	DSP_ENST00000418664.2_Silent_p.L1526L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2125	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGCGCCTGCTGGAAGCCCA	0.458000													36	43					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020777	73020777	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020777C>A	ENST00000263674.3	+	1	1444	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	365					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATGTCTGACTCTGTGGGAGGA	0.642000													6	83					0.00116845	0.00124821	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78695850	78695850	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78695850T>C	ENST00000504123.1	-	3	278	c.148A>G	c.(148-150)Aca>Gca	p.T50A	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T50A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	50					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAAGTGATGTACTTAGGCTC	0.418000													5	6					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275879	113275879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113275879G>A	ENST00000297405.5	-	61	10095	c.9851C>T	c.(9850-9852)cCg>cTg	p.P3284L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3214L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3244L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3115L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3284	Sushi 25.					integral to membrane|plasma membrane		p.P3284Q(1)|p.P3244L(1)|p.P3284L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGCACTGCGGTACTTCACC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	15					0	0	1	0	0
PMS2CL	0	broad.mit.edu	37	7	6785753	6785753	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6785753G>A	ENST00000486256.1	+	0	1897					NR_002217.1																						TGTTAATGAAGCTGTTCTGAT	0.338000													9	22					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56839423	56839423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56839423G>A	ENST00000569842.1	+	5	464	c.368G>A	c.(367-369)gGc>gAc	p.G123D	NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.G123D|NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000569595.1_3'UTR			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	123					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGACCTTCGGCATGGCTGAG	0.483000													36	31					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386361	31386361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31386361C>T	ENST00000328111.2	+	15	1907	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DNMT3B_ENST00000456297.2_Missense_Mutation_p.P433L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P521L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P509L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P467L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	529	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTGTCTCCCGCAGCGCTGT	0.627000													8	39					0	0	1	0	0
ATOX1	475	broad.mit.edu	37	5	151125971	151125971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151125971C>T	ENST00000521264.1	-	3	246	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	ATOX1_ENST00000522710.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000313115.6_Missense_Mutation_p.C41Y|ATOX1_ENST00000520382.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000522314.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000524142.1_Missense_Mutation_p.C41Y			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	41	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGATTCAATGCAGACCTTCTT	0.517000													7	80					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43857619	43857619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43857619G>T	ENST00000319294.6	+	11	1446	c.1415G>T	c.(1414-1416)gGt>gTt	p.G472V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G434V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G434V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGACAGTGGTATCAGAATC	0.537000													14	31					1.3612e-06	1.57881e-06	1	1	0
GJA8	2703	broad.mit.edu	37	1	147380559	147380559	+	Silent	SNP	C	C	T	rs144568061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380559C>T	ENST00000240986.4	+	2	530	c.477C>T	c.(475-477)acC>acT	p.T159T	GJA8_ENST00000369235.1_Silent_p.T159T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	159					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTTCAAGACCCTCTTTGAAG	0.597000													62	77					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58697164	58697164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58697164G>T	ENST00000326804.4	+	3	578	c.119G>T	c.(118-120)aGg>aTg	p.R40M	ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000345813.3_Missense_Mutation_p.R40M|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	40	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCCTGTACAGGGAAGTGATG	0.498000													5	69					0.0215528	0.0221649	1	1	0
CYP39A1	51302	broad.mit.edu	37	6	46620341	46620341	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46620341G>T	ENST00000275016.2	-	0	182					NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GCACCTTCCAGAAGCAGAAAA	0.483000													45	76					1.00001e-27	1.33502e-27	1	1	0
FLI1	2313	broad.mit.edu	37	11	128680652	128680652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128680652G>A	ENST00000344954.6	+	9	1417	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	FLI1_ENST00000429175.2_Silent_p.S376S|FLI1_ENST00000281428.8_Silent_p.S310S|FLI1_ENST00000534087.1_Silent_p.S343S|FLI1_ENST00000525560.1_Silent_p.S183S			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	376					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498000			T	EWSR1	Ewing sarcoma								21	16					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621130	41621130	+	Silent	SNP	C	C	T	rs138239258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41621130C>T	ENST00000373050.4	+	4	562	c.375C>T	c.(373-375)tgC>tgT	p.C125C				Q99750	MDFI_HUMAN	MyoD family inhibitor	186					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCCTGGACTGCGCCACCTGTG	0.657000													29	33					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102296	44102296	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44102296A>G	ENST00000259746.9	+	2	159		c.e2-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCCTCTGCCCAGGAGGACCAT	0.642000													5	17					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38318393	38318393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38318393G>T	ENST00000264645.7	+	5	821	c.595G>T	c.(595-597)Gag>Tag	p.E199*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	199	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCAAACTCAGGAGGAGGAAGT	0.448000													5	50					3.59834e-05	4.01776e-05	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695589	109695589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109695589G>A	ENST00000465301.2	+	3	1990	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A582T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	582										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTAATGACAGCCCAAACCTC	0.498000													29	54					0	0	1	0	0
GJB6	0	broad.mit.edu	37	13	20797204	20797204	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20797204C>T	ENST00000356192.6	-	5	1036	c.416G>A	c.(415-417)aGc>aAc	p.S139N	GJB6_ENST00000400066.3_Missense_Mutation_p.S139N|GJB6_ENST00000400065.3_Missense_Mutation_p.S139N|GJB6_ENST00000241124.6_Missense_Mutation_p.S139N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	139			S -> G.		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAAAAAGATGCTGCTGGTGTA	0.453000													11	26					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370464	101370464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101370464C>T	ENST00000312938.4	-	11	3288	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R903H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGACATGGCGTTTTAGAGA	0.423000													5	68					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134015567	134015567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015567G>A	ENST00000338492.4	+	11	1392	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	DPYSL4_ENST00000368627.1_Missense_Mutation_p.V310I|DPYSL4_ENST00000368629.1_Missense_Mutation_p.V310I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	410					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGCTGACCTGGTCATATGGAA	0.547000													18	51					0	0	1	0	0
IGLV4-3	0	broad.mit.edu	37	22	23214094	23214094	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23214094G>A	ENST00000390318.2	+	0	283																											ATCCCCGATCGCTTCATGGGC	0.552000													53	66					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244758	41244758	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244758A>G	ENST00000309486.4	-	9	2929	c.1902T>C	c.(1900-1902)ccT>ccC	p.P634P	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Silent_p.P930P|BRCA1_ENST00000354071.3_Silent_p.P930P|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Silent_p.P930P|BRCA1_ENST00000357654.3_Silent_p.P930P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P883P|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	930					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCAACCACAGGAAAGCCTG	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			14	125					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134152280	134152280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134152280G>A	ENST00000452510.2	+	19	2755	c.2597G>A	c.(2596-2598)gGc>gAc	p.G866D	DDX46_ENST00000354283.4_Missense_Mutation_p.G866D	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	866					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAATTTGGGCATCGAGTCT	0.368000													11	23					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872224	84872224	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84872224C>T	ENST00000262424.5	+	2	347	c.123C>T	c.(121-123)aaC>aaT	p.N41N	CRISPLD2_ENST00000564567.1_Silent_p.N41N|CRISPLD2_ENST00000569090.1_Silent_p.N41N|CRISPLD2_ENST00000567845.1_Silent_p.N41N|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	41						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACCAGCACAACGAGTCTCACT	0.607000													23	59					0	0	1	0	0
OAZ2	4947	broad.mit.edu	37	15	64982604	64982604	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64982604C>A	ENST00000326005.6	-	4	554	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.D108Y			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	108					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	AATAATCCATCTGGGATTTCT	0.488000													12	163					5.50884e-06	6.28354e-06	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72964986	72964986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:72964986G>T	ENST00000262209.4	-	14	1866	c.1659C>A	c.(1657-1659)caC>caA	p.H553Q	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	553						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGCAGCAAAGTGAAGTGCAG	0.458000													10	67					9.70103e-10	1.18443e-09	1	1	0
ATG16L1	55054	broad.mit.edu	37	2	234201945	234201945	+	Missense_Mutation	SNP	C	C	A	rs147191546		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201945C>A	ENST00000392017.4	+	17	1929	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575M|ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395M|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379M|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539M	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGGGCTCTCTGTATATCTG	0.517000													18	47					1.96292e-10	2.41709e-10	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745830	77745830	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:77745830T>C	ENST00000409088.3	-	3	1579	c.1165A>G	c.(1165-1167)Atc>Gtc	p.I389V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I390V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	389						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTTTGAAGATGGTAGGTCTA	0.473000													4	52					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877583	56877583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877583C>A	ENST00000257287.4	+	20	2635	c.2511C>A	c.(2509-2511)atC>atA	p.I837I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	837					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGGAAATCTCATTGGAAT	0.323000													17	21					3.51602e-12	4.4132e-12	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78763663	78763663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78763663C>T	ENST00000436010.2	-	6	1809	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000464233.1_Missense_Mutation_p.R310Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	310	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGATCATCTCGGATTTCATA	0.378000													14	17					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157517441	157517441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157517441C>T	ENST00000346085.5	+	16	4006	c.4005C>T	c.(4003-4005)taC>taT	p.Y1335Y	ARID1B_ENST00000350026.5_Silent_p.Y1322Y|ARID1B_ENST00000275248.4_Silent_p.Y1317Y|ARID1B_ENST00000367148.1_Silent_p.Y1375Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1322					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAGCCAGTTACGACCGAAGGT	0.502000													4	96					0	0	1	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747556	7747556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747556C>T	ENST00000317378.5	+	2	604	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TRAPPC5_ENST00000426877.2_Silent_p.C139C|TRAPPC5_ENST00000595985.1_Silent_p.C72C|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.C139C	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	139					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CGCTCAACTGCGCCAGCTTCA	0.627000													8	9					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47045959	47045959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47045959G>A	ENST00000377604.3	+	24	3496	c.2754G>A	c.(2752-2754)ctG>ctA	p.L918L	RBM10_ENST00000345781.6_Silent_p.L841L|RBM10_ENST00000329236.7_Silent_p.L840L|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	918					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGAGACACTGCACAAGACAA	0.617000													8	8					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027255	50027255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027255G>T	ENST00000261897.1	+	7	972	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCGGACACAGGCAAACCTTA	0.547000													20	249					8.28177e-16	1.06505e-15	1	1	0
CEP97	79598	broad.mit.edu	37	3	101445527	101445527	+	Missense_Mutation	SNP	A	A	G	rs145823858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101445527A>G	ENST00000341893.3	+	2	885	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	CEP97_ENST00000494050.1_Missense_Mutation_p.K45E|CEP97_ENST00000327230.4_Missense_Mutation_p.K45E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	45						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTGGATAAAAATCAGAT	0.343000													4	54					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38228688	38228688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38228688C>T	ENST00000215941.4	-	7	976	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANKRD54_ENST00000411961.2_Missense_Mutation_p.D246N|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D142N|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	262										lung(1)	1	Melanoma(58;0.045)					CAGAGGTCATCCAGGCGTTCT	0.612000													8	41					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489982	237489982	+	Missense_Mutation	SNP	G	G	A	rs149226214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489982G>A	ENST00000272928.3	+	2	1184	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GCTGGAGCACGCCCTCTTCAC	0.592000													35	63					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491199	100491199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491199C>T	ENST00000302913.4	-	2	793	c.655G>A	c.(655-657)Gca>Aca	p.A219T	ACHE_ENST00000241069.5_Missense_Mutation_p.A219T|ACHE_ENST00000419336.2_Missense_Mutation_p.A219T|ACHE_ENST00000412389.1_Missense_Mutation_p.A219T|ACHE_ENST00000411582.1_Missense_Mutation_p.A219T|ACHE_ENST00000428317.1_Missense_Mutation_p.A219T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	219					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGAAGGCTGCCACGTTCTCC	0.701000													18	81					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47887941	47887941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47887941C>T	ENST00000507489.1	-	13	1795	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	NFXL1_ENST00000381538.3_Missense_Mutation_p.G540D|NFXL1_ENST00000329043.3_Missense_Mutation_p.G540D	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	540						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACGTTCTCGGCCACAGGGCAC	0.438000													67	102					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50166499	50166499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50166499G>A	ENST00000442265.2	-	2	181	c.182C>T	c.(181-183)cCc>cTc	p.P61L	IRF3_ENST00000601291.1_Silent_p.S118S|IRF3_ENST00000599223.1_Silent_p.S118S|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000597198.1_Silent_p.S118S|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377135.4_Silent_p.S118S|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000309877.7_Silent_p.S118S|IRF3_ENST00000600911.1_Silent_p.S118S|IRF3_ENST00000377139.3_Silent_p.S118S|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR			Q14653	IRF3_HUMAN	interferon regulatory factor 3	187					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTCTGGCTGGGAAAAGTCCC	0.582000													6	99					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716482	716482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:716482G>T	ENST00000549091.1	+	38	4866	c.4774G>T	c.(4774-4776)Gac>Tac	p.D1592Y	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.D189Y|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000293879.4_Missense_Mutation_p.D1590Y	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1590										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGAGGGCACAGACCTATGGCT	0.632000													19	28					1.40151e-16	1.80976e-16	1	1	0
QARS	5859	broad.mit.edu	37	3	49141388	49141388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49141388G>A	ENST00000306125.6	-	3	620	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	QARS_ENST00000414533.1_Missense_Mutation_p.R84W|QARS_ENST00000420147.2_Missense_Mutation_p.R113W			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	95					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGGTGACTCCGCACATACTCA	0.547000													10	16					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511750	23511750	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511750C>T	ENST00000408907.2	+	1	375	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACCTGGTATCGGGTATTACA	0.597000													30	46					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947407G>A	ENST00000261800.5	-	1	1098	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547000													48	40					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288647	74288647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74288647C>T	ENST00000262765.5	-	4	1842	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	555	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGTTGAGCCAAATCACTC	0.532000													16	33					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002475	27002475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27002475C>T	ENST00000314616.6	+	6	878	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R199W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	199	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCTAAGTGGCGGAAAAAGCT	0.517000													21	49					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106699	121106699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121106699G>A	ENST00000295228.3	+	2	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCCGGGTCCGCCTATACTTC	0.557000													21	39					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140504	178140504	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178140504A>C	ENST00000335815.2	-	5	572	c.375T>G	c.(373-375)ccT>ccG	p.P125P		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	125					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATATATGTAAGGCTTTTCTA	0.378000													6	104					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800488	153800488	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153800488C>T	ENST00000368655.4	-	2	579		c.e2+1			NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGCCATACCTCCGTCTAG	0.478000													38	47					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36490664C>T	ENST00000342292.4	-	8	1727	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642000													7	9					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76907780	76907780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76907780C>T	ENST00000373344.5	-	15	4595	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	ATRX_ENST00000395603.3_Missense_Mutation_p.E1423K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1461	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	tcctcctcctcttcctcctcc	0.388000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						36	76					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521689	39521689	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521689C>A	ENST00000251646.3	-	4	754	c.705G>T	c.(703-705)ctG>ctT	p.L235L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	235	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTTTCCACCAGGGCCTCAT	0.647000													13	17					3.32936e-07	3.90007e-07	1	1	0
RGMA	56963	broad.mit.edu	37	15	93588245	93588245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93588245G>T	ENST00000329082.7	-	4	1607	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	RGMA_ENST00000556658.1_Missense_Mutation_p.L337I|RGMA_ENST00000543599.1_Missense_Mutation_p.L430I|RGMA_ENST00000542321.2_Missense_Mutation_p.L430I|RGMA_ENST00000538818.1_Missense_Mutation_p.L337I|RGMA_ENST00000557301.1_Missense_Mutation_p.L454I|RGMA_ENST00000425933.2_Missense_Mutation_p.L430I|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	446					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AACACAGGGAGCAGGGCCAGG	0.721000													3	2					0.115264	0.117355	1	1	0
ZSCAN12	9753	broad.mit.edu	37	6	28358597	28358597	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28358597A>G	ENST00000361028.1	-	4	1615	c.1470T>C	c.(1468-1470)atT>atC	p.I490I	ZSCAN12_ENST00000396827.3_Silent_p.I490I					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGTGTGAATTCGCTGAT	0.428000													3	4					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128260962	128260962	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128260962C>A	ENST00000295321.4	-	4	1669		c.e4+1		AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Splice_Site	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCACTTACTCTTCTTCAT	0.403000													15	175					3.45872e-05	3.88335e-05	1	1	0
GAA	2548	broad.mit.edu	37	17	78092019	78092019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092019C>T	ENST00000302262.3	+	18	2728	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	GAA_ENST00000390015.3_Missense_Mutation_p.R837C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	837					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACAGAGTCCCGCCAGCAGCC	0.667000													18	42					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685842	248685842	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685842G>T	ENST00000343414.4	+	1	927	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTGAAAGGGGCCTTGAG	0.448000													4	47					0.000602214	0.000649039	1	1	0
ZNF331	55422	broad.mit.edu	37	19	54080795	54080795	+	Silent	SNP	C	C	T	rs149071213	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54080795C>T	ENST00000253144.9	+	7	2314	c.981C>T	c.(979-981)caC>caT	p.H327H	ZNF331_ENST00000449416.1_Silent_p.H327H|ZNF331_ENST00000512387.1_Silent_p.H327H|ZNF331_ENST00000511593.2_Silent_p.H327H|ZNF331_ENST00000511154.1_Silent_p.H327H|ZNF331_ENST00000513999.1_Silent_p.H327H|ZNF331_ENST00000411977.2_Silent_p.H327H|ZNF331_ENST00000513265.1_3'UTR	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H327H(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAGCCTCACGAATGTAAGG	0.507000			T	?	follicular thyroid adenoma								5	56					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57457058	57457058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57457058C>T	ENST00000300128.4	-	7	847	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	TMEM194A_ENST00000379391.3_Missense_Mutation_p.R202Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	275						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGATACTTCGTTCATTCTC	0.428000													34	51					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653381	19653381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653381G>A	ENST00000284885.3	-	22	2677	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	882	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAAATTCCAGATGCATCATG	0.328000													53	100					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500774	179500774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500774C>T	ENST00000589042.1	-	226	41748	c.41524G>A	c.(41524-41526)Gca>Aca	p.A13842T	TTN_ENST00000460472.2_Missense_Mutation_p.A4777T|TTN_ENST00000342992.6_Missense_Mutation_p.A11274T|TTN_ENST00000359218.5_Missense_Mutation_p.A4902T|TTN_ENST00000342175.6_Missense_Mutation_p.A4969T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A12201T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12201							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTGCATCGTTGATG	0.498000													8	80					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99042455	99042455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99042455C>T	ENST00000436336.2	+	2	308	c.147C>T	c.(145-147)tgC>tgT	p.C49C	CPSF4_ENST00000441580.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Silent_p.C49C|CPSF4_ENST00000292476.5_Silent_p.C49C|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	49					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTGCCTGCGGCAAAGGTA	0.547000													61	239					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003547	187003547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187003547G>A	ENST00000296795.2	+	4	811	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	236					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.S236T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGTCCCAGCCTTACAGAG	0.428000													56	78					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48627942	48627942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48627942C>T	ENST00000328333.8	-	14	1963	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G619E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	619	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGACGGGTCCCCAGGCCAC	0.592000													14	24					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314861	233314861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233314861C>T	ENST00000258229.8	-	16	3361	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A176T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1043						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGAAAGGGCGACCAAGAGG	0.527000													14	39					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5089777	5089777	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5089777T>C	ENST00000381652.3	+	20	3169	c.2675T>C	c.(2674-2676)cTa>cCa	p.L892P	JAK2_ENST00000539801.1_Missense_Mutation_p.L892P|JAK2_ENST00000544510.1_Missense_Mutation_p.L743P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	892	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGAGCACCTAAGAGACTTT	0.458000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				3	54					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42954792	42954792	+	Missense_Mutation	SNP	C	C	T	rs77247576	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42954792C>T	ENST00000541208.1	+	4	620	c.251C>T	c.(250-252)cCg>cTg	p.P84L	ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84L|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTGATTTGTCCGGGTAAGTGA	0.423000													23	34					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50785659	50785659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50785659G>A	ENST00000540145.1	+	5	1064	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CYLD_ENST00000564326.1_Missense_Mutation_p.A217T|CYLD_ENST00000566206.1_Missense_Mutation_p.A217T|CYLD_ENST00000568704.2_Missense_Mutation_p.A217T|CYLD_ENST00000398568.2_Missense_Mutation_p.A217T|CYLD_ENST00000311559.9_Missense_Mutation_p.A217T|CYLD_ENST00000569418.1_Missense_Mutation_p.A217T|CYLD_ENST00000427738.3_Missense_Mutation_p.A217T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	217	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGTGATTACGCAGGTCCTGG	0.418000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				34	61					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937048	102937048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102937048G>T	ENST00000260247.5	-	6	847	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.L84M	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	169	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTCCCAAGCAGAAGAGCTAAC	0.333000													4	50					0.00024832	0.0002712	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26227731	26227731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26227731G>A	ENST00000380737.3	+	10	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	PPP2R2A_ENST00000315985.7_Silent_p.S392S	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.S382S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGCATCGCGGGAAAACA	0.418000													22	26					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738582	229738582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738582C>T	ENST00000366675.3	-	4	420	c.332G>A	c.(331-333)aGt>aAt	p.S111N	TAF5L_ENST00000258281.2_Missense_Mutation_p.S111N|TAF5L_ENST00000366676.1_Missense_Mutation_p.S111N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	111					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCTTCGGACTGTTTTGGAC	0.453000													8	81					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726987	145726987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145726987C>T	ENST00000292539.4	+	11	2205	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R430W			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	430						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGACTAGACCGGAGTGTCTC	0.657000													4	3					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825168	52825168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52825168C>A	ENST00000371586.2	-	9	1119	c.981G>T	c.(979-981)caG>caT	p.Q327H	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q327H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	327										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCACGGGCTGCCCCTTCT	0.627000													10	21					6.40141e-05	7.11719e-05	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57254721	57254721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57254721G>A	ENST00000537866.1	+	9	1852	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V327I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	327	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAGCAATGATGTCAGCGAGTA	0.423000													26	41					0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972951	17972951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17972951C>T	ENST00000600147.1	+	3	283	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	RPL18A_ENST00000599870.1_Missense_Mutation_p.R54C|RPL18A_ENST00000599898.1_Missense_Mutation_p.R44C|RPL18A_ENST00000222247.5_Missense_Mutation_p.R83C			Q02543	RL18A_HUMAN	ribosomal protein L18a	83				R -> S (in Ref. 2; CAA56788).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GATCTGGCTGCGCTATGACTC	0.627000													13	35					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648578	85648578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85648578C>T	ENST00000341460.5	-	3	1796	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	583					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAGCAGCGGTGGTTGTG	0.403000													9	160					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970880	201970880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201970880G>T	ENST00000295640.4	+	8	1454	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.V432L|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	471					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAAAAGAGAGTGGATATCAT	0.433000													55	64					5.57489e-27	7.43239e-27	1	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75550024	75550024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75550024C>T	ENST00000604729.1	+	7	1212	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ZSWIM8_ENST00000604524.1_Silent_p.F305F|ZSWIM8_ENST00000398706.2_Silent_p.F305F|ZSWIM8_ENST00000603114.1_Silent_p.F305F|ZSWIM8_ENST00000605216.1_Silent_p.F305F					zinc finger, SWIM-type containing 8									p.F305L(2)									TGCACAAGTTCTGTGGCCCCT	0.542000													41	74					0	0	1	0	0
COG5	0	broad.mit.edu	37	7	106898773	106898773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106898773C>A	ENST00000393603.2	-	15	1995	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	COG5_ENST00000297135.3_Missense_Mutation_p.R575I|COG5_ENST00000347053.3_Missense_Mutation_p.R575I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	575					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACATTTCTTCTCTGTCCTTC	0.328000													18	170					5.35267e-07	6.25286e-07	1	1	0
FER1L5	90342	broad.mit.edu	37	2	97369334	97369334	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97369334G>A	ENST00000457909.1	+	0	5269							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.S1958S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAGGCCAGTCGGAACCCAACC	0.567000													6	27					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609839	105609839	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105609839G>T	ENST00000254765.3	-	0	224				BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTGAAACAGGTAACTAAGT	0.403000													20	34					1.15919e-05	1.31461e-05	1	1	0
SLC35G2	80723	broad.mit.edu	37	3	136573853	136573853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136573853C>T	ENST00000446465.2	+	2	1179	c.551C>T	c.(550-552)aCa>aTa	p.T184I	SLC35G2_ENST00000393079.3_Missense_Mutation_p.T184I|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	184	DUF6 1.					Golgi apparatus|integral to membrane											TGTGCTTATACATCATTTTCA	0.423000													52	93					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124816898	124816898	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124816898G>A	ENST00000356219.3	-	44	7047	c.6892C>T	c.(6892-6894)Ctg>Ttg	p.L2298L	NCOR2_ENST00000404621.1_Silent_p.L2281L|NCOR2_ENST00000397355.1_Silent_p.L2282L|NCOR2_ENST00000429285.2_Silent_p.L2281L|NCOR2_ENST00000405201.1_Silent_p.L2291L|NCOR2_ENST00000404121.2_Silent_p.L1852L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2302					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTGTTCAGCTTCTTGTTG	0.612000											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	96					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450152	36450152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36450152C>T	ENST00000265748.2	+	6	1347	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ANLN_ENST00000396068.2_Missense_Mutation_p.R376C|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	376	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTCCTGGAACGCTTTGGAGA	0.398000													39	20					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35810363	35810363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35810363C>A	ENST00000373825.2	-	14	1924	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	SRPK1_ENST00000423325.2_Missense_Mutation_p.G531C|SRPK1_ENST00000373822.1_Missense_Mutation_p.G439C			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	547	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATAGTCACCTGTGGCCAGT	0.418000													9	21					5.4927e-09	6.6252e-09	1	1	0
PAFAH2	5051	broad.mit.edu	37	1	26310982	26310982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26310982G>A	ENST00000374282.3	-	5	558	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R127C|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	127					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAAGCCACGTGAGGCCAGC	0.517000													9	9					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67486098	67486098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67486098G>A	ENST00000235345.5	-	10	915	c.830C>T	c.(829-831)aCg>aTg	p.T277M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T198M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	277					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	ATTATACTGCGTGCAGAGTAC	0.333000													7	62					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199790	20199790	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20199790T>G	ENST00000400331.5	-	5	502	c.194A>C	c.(193-195)aAt>aCt	p.N65T	MACC1_ENST00000589011.1_Missense_Mutation_p.N65T|MACC1_ENST00000332878.4_Missense_Mutation_p.N65T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	65					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGAATGGATTTGCAACTTT	0.378000													61	44					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187214	98187214	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98187214G>T	ENST00000370192.3	-	5	435	c.335C>A	c.(334-336)gCt>gAt	p.A112D	DPYD_ENST00000306031.5_Missense_Mutation_p.A112D|DPYD_ENST00000423006.2_Missense_Mutation_p.A75D	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	112					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTAGCAGCTCCATAATA	0.323000													18	43					2.39187e-15	3.06793e-15	1	1	0
FAM69A	388650	broad.mit.edu	37	1	93341945	93341945	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93341945A>C	ENST00000370310.4	-	2	167	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	33						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCACTAACCAGGAAAAGAAA	0.348000													8	51					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5994951	5994951	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5994951G>A	ENST00000303657.5	-	18	2216	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	RFX2_ENST00000359161.3_Silent_p.G689G|RFX2_ENST00000592546.1_Silent_p.G664G|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTCATCGCCCATGTCAT	0.662000													21	11					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751326	26751326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:26751326C>A	ENST00000396641.2	+	2	755	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	LRRC3B_ENST00000417744.1_Missense_Mutation_p.L55I|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L55I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	55	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATGCAAATCTCAAGGAAAT	0.413000													6	72					0.00116845	0.00124821	1	1	0
C3AR1	719	broad.mit.edu	37	12	8212652	8212652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212652C>T	ENST00000307637.4	-	2	333	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	44					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACCCACAGCACCAGCCCATTG	0.542000													18	49					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329930	19329930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19329930C>A	ENST00000252575.5	+	3	323	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	94	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTGCCCATCCTGGTGGCCAA	0.642000													9	16					0.00829132	0.00869385	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205053118	205053118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205053118C>T	ENST00000367167.3	-	1	527	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	111	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGTCCAAACTCCAAGATGTCT	0.488000													34	26					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21909784	21909784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21909784G>T	ENST00000358296.6	-	5	1528	c.1330C>A	c.(1330-1332)Ctt>Att	p.L444I	ZNF100_ENST00000305570.6_Missense_Mutation_p.L380I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGTAGTAAGGTTTGAGGAC	0.408000													5	68					3.59834e-05	4.01776e-05	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36976068	36976068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36976068G>T	ENST00000282516.8	+	9	1558	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	NIPBL_ENST00000448238.2_Missense_Mutation_p.K353N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	353					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCCATCCAAGGACTCTACTA	0.368000													20	40					3.51602e-12	4.4132e-12	1	1	0
GOT1L1	137362	broad.mit.edu	37	8	37793302	37793302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37793302C>A	ENST00000307599.4	-	7	948	c.849G>T	c.(847-849)caG>caT	p.Q283H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q24H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	283					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCCACAGGGCCTGGGCTAATC	0.592000													6	40					0.00116845	0.00124821	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102158832	102158832	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158832G>A	ENST00000299314.7	-	13	2125	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	621					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTCTTCATCGTTTGTATTTT	0.403000													50	68					0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541121	5541121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5541121C>T	ENST00000380332.3	-	1	412	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	94	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTGGCCGTCGCCATCCTGGTC	0.706000													4	14					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179519707	179519707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179519707G>A	ENST00000467460.1	-	15	2120	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	PEX5L_ENST00000476138.1_Missense_Mutation_p.A554V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A595V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A562V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.A489V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A405V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A489V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A538V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A573V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	597					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAGAGCGCAATTCTGAG	0.473000													67	151					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946459	150946459	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946459T>G	ENST00000261800.5	-	1	2046	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	678					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGTGAATTGTGTCAATA	0.398000													11	94					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139092102	139092102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092102G>A	ENST00000333188.5	-	9	1228	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	COPB2_ENST00000507777.1_Silent_p.G320G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	349					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCACAACTGCCCATATCCT	0.448000													31	68					0	0	1	0	0
VBP1	7411	broad.mit.edu	37	X	154456691	154456691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154456691G>A	ENST00000286428.5	+	4	428	c.311G>A	c.(310-312)aGa>aAa	p.R104K	VBP1_ENST00000535916.1_Missense_Mutation_p.R99K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	104					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGAGACCAGATTCTTGCTG	0.408000													92	139					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20417380	20417380	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20417380A>G	ENST00000331079.6	+	6	649	c.432A>G	c.(430-432)gtA>gtG	p.V144V	PRMT3_ENST00000437750.2_Silent_p.V82V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	144							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CGGTGTCAGTACCCTTCTCAT	0.373000													29	45					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71496185	71496185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71496185G>A	ENST00000296755.7	+	5	7301	c.7003G>A	c.(7003-7005)Gcc>Acc	p.A2335T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2335						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAAGACCGCCACTGCAGG	0.507000													6	65					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912066	155912066	+	Missense_Mutation	SNP	G	G	A	rs145457936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155912066G>A	ENST00000368318.3	+	1	587	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	189						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGTGTGCGCCTTTGCCTG	0.662000													28	50					0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578569	37578569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37578569C>T	ENST00000337843.2	-	3	571	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	147	C1q.					collagen		p.E166K(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622000													18	36					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158349675	158349675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158349675A>G	ENST00000392185.3	+	12	1400	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	410	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGGCCATGGATGACGGCGTG	0.622000													3	10					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242076463	242076463	+	Missense_Mutation	SNP	C	C	T	rs145134713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242076463C>T	ENST00000403638.3	-	7	1184	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	PASK_ENST00000405260.1_Missense_Mutation_p.A365T|PASK_ENST00000539818.1_Missense_Mutation_p.A149T|PASK_ENST00000544142.1_Missense_Mutation_p.A179T|PASK_ENST00000358649.4_Missense_Mutation_p.A365T|PASK_ENST00000234040.4_Missense_Mutation_p.A365T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	365	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTGTCAGCGCGAAGCTGTGG	0.632000													18	32					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114710691	114710691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114710691C>A	ENST00000545257.1	+	1	683	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	TCF7L2_ENST00000369397.4_Missense_Mutation_p.S59Y|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S59Y|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000355995.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S59Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S59Y			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	59					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAAAACAGCTCCTCCGATTCC	0.502000			T	VTI1A	colorectal								10	16					1.58986e-06	1.84011e-06	1	1	0
ZNF470	388566	broad.mit.edu	37	19	57089032	57089032	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089032T>G	ENST00000330619.8	+	6	1921	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L412R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418000													11	98					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19050474	19050474	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19050474A>G	ENST00000380527.1	+	1	1103	c.817A>G	c.(817-819)Atg>Gtg	p.M273V		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	273					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TACGTACGTGATGGTGGTCAT	0.512000													12	85					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143232G>T	ENST00000055335.6	+	4	2096	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365S|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694						integral to membrane		p.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617000													6	6					0.00116845	0.00124821	1	1	0
KIAA1984	84960	broad.mit.edu	37	9	139697115	139697115	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139697115G>T	ENST00000338005.6	+	6	578		c.e6-1		KIAA1984_ENST00000371682.3_Splice_Site	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTCAACACAGGTGCTGGCAG	0.537000													11	125					1.58986e-06	1.84011e-06	1	1	0
RRAGB	10325	broad.mit.edu	37	X	55757807	55757807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55757807T>G	ENST00000374941.4	+	5	893	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	RRAGB_ENST00000262850.7_Missense_Mutation_p.F130V	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	130					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAAGACACCTTCATGGAAAA	0.373000													5	25					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175130	41175130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41175130C>T	ENST00000402844.3	-	1	1068	c.88G>A	c.(88-90)Gga>Aga	p.G30R	SLC25A17_ENST00000435456.2_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000542412.1_Splice_Site			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	112					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTAACCACTCCTTTAACAAGA	0.378000													4	32					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31611887	31611887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31611887G>T	ENST00000404765.2	-	13	1929	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	BAG6_ENST00000375976.4_Missense_Mutation_p.P511H|BAG6_ENST00000211379.5_Missense_Mutation_p.P511H|BAG6_ENST00000439687.2_Missense_Mutation_p.P511H|BAG6_ENST00000375964.6_Missense_Mutation_p.P517H|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.P511H			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	517	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGGCCCTCCAGGATGGGAAGG	0.637000													12	22					4.36969e-10	5.35656e-10	1	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24942135	24942135	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24942135T>C	ENST00000289968.6	-	19	2554	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T751A|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	829					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGTGCTGTGTTGGTGAGG	0.527000													30	295					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975016	42975016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975016C>T	ENST00000485511.1	+	5	784	c.605C>T	c.(604-606)aCc>aTc	p.T202I	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T170I|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T194I|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T96I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	202					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATGAGCCCACCCTGGAAGCT	0.612000													36	65					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195959363	195959363	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195959363C>T	ENST00000296327.5	+	8	1063	c.854C>T	c.(853-855)tCg>tTg	p.S285L	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ATTGCTTGTTCGCCTCCCTAT	0.552000													22	30					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100129858	100129858	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100129858G>T	ENST00000394897.1	-	6	877	c.795C>A	c.(793-795)ttC>ttA	p.F265L	ADH6_ENST00000394899.2_Missense_Mutation_p.F265L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.F56L|ADH6_ENST00000237653.7_Missense_Mutation_p.F265L|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	265					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCTCAAAGCAGAAGTCTATAC	0.398000													106	167					1.37401e-58	1.85944e-58	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10556805	10556805	+	Missense_Mutation	SNP	C	C	T	rs55800934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10556805C>T	ENST00000316170.3	+	1	566	c.149C>T	c.(148-150)tCt>tTt	p.S50F	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	51						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTTTGCACATCTTTTATCAAT	0.393000													32	86					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012048	57012048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57012048C>T	ENST00000200676.3	+	11	1157	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	CETP_ENST00000566128.1_Missense_Mutation_p.L278F|CETP_ENST00000379780.2_Missense_Mutation_p.L283F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	343					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGTCCACTGCCTCAAGATGCC	0.582000													34	65					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73567057	73567057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73567057A>G	ENST00000339362.5	+	22	3632	c.3185A>G	c.(3184-3186)aAt>aGt	p.N1062S	NEO1_ENST00000558964.1_Intron|NEO1_ENST00000560262.1_Missense_Mutation_p.N1062S|NEO1_ENST00000261908.6_Missense_Mutation_p.N1062S			Q92859	NEO1_HUMAN	neogenin 1	1062					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAATGCCTAATGATCAAGGT	0.378000													13	129					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64608684	64608684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64608684C>T	ENST00000357395.3	+	83	15483	c.4339C>T	c.(4339-4341)Cgt>Tgt	p.R1447C	SYNE2_ENST00000555002.1_Missense_Mutation_p.R1696C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1447C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5062C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4979C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5062C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5062					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGCCGTCTCGTAAAGCAAT	0.373000													9	22					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043735	1043735	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1043735C>A	ENST00000263094.6	+	10	1173	c.942C>A	c.(940-942)acC>acA	p.T314T	ABCA7_ENST00000433129.1_Silent_p.T314T|ABCA7_ENST00000435683.2_Silent_p.T176T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	314					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACCGGACCTTCGAGGAGC	0.632000													53	82					1.67886e-27	2.24113e-27	1	1	0
KBTBD7	84078	broad.mit.edu	37	13	41767128	41767128	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41767128C>T	ENST00000379483.3	-	1	1574	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	422							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CACGACACAGCAAGCGATCTG	0.488000													7	58					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70726546	70726546	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70726546G>T	ENST00000229195.3	+	7	1148		c.e7-1		CNOT2_ENST00000418359.3_Splice_Site|CNOT2_ENST00000548230.1_Splice_Site	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGTACCCAGTATGTCTGGA	0.318000													35	65					2.20474e-14	2.81294e-14	1	1	0
B3GALT2	8707	broad.mit.edu	37	1	193149591	193149591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193149591G>A	ENST00000367434.4	-	2	1857	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	368					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAAGAGACTCGCCAGTGATTG	0.423000													20	69					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119909	103119909	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103119909C>T	ENST00000295269.4	+	3	1180	c.723C>T	c.(721-723)gtC>gtT	p.V241V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	241					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGCCTAGGTCTTATACAATA	0.358000													5	4					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432640	117432640	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117432640T>A	ENST00000160373.3	-	4	701	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	204										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCGTCTTTTTCTTTTCCTCT	0.463000													63	58					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013275	99013275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99013275G>A	ENST00000393504.1	+	8	2059	c.1642G>A	c.(1642-1644)Ggg>Agg	p.G548R	CNGA3_ENST00000436404.2_Missense_Mutation_p.G530R|CNGA3_ENST00000272602.2_Missense_Mutation_p.G548R|CNGA3_ENST00000409937.1_Missense_Mutation_p.G552R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGCTACTTCGGGGAGATCAG	0.562000													9	133					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541585C>T	ENST00000361760.1	+	1	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438000													20	67					0	0	1	0	0
PCDHGC3	0	broad.mit.edu	37	5	140856640	140856640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140856640G>T	ENST00000308177.3	+	1	1061	c.957G>T	c.(955-957)gaG>gaT	p.E319D	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCATGAGATTTACATCC	0.547000													18	30					2.94398e-08	3.51695e-08	1	1	0
STIL	6491	broad.mit.edu	37	1	47725975	47725975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47725975G>T	ENST00000360380.3	-	17	3426	c.3063C>A	c.(3061-3063)aaC>aaA	p.N1021K	STIL_ENST00000371877.3_Missense_Mutation_p.N1022K|STIL_ENST00000243182.6_Missense_Mutation_p.N1021K|STIL_ENST00000337817.5_Missense_Mutation_p.N1021K|STIL_ENST00000396221.2_Missense_Mutation_p.N1004K			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1021					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTGATCCACGTTATGTGCAT	0.308000													22	43					9.95505e-16	1.27953e-15	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657000													10	17					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612975	7612975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7612975G>T	ENST00000340080.4	+	4	1290	c.869G>T	c.(868-870)aGt>aTt	p.S290I	MIOS_ENST00000405785.1_Missense_Mutation_p.S290I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	290										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAGGGATAGTAATATTATT	0.408000													8	139					1.06961e-07	1.26574e-07	1	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291666	141291666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:141291666C>A	ENST00000247452.3	-	3	455	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	36	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCCTCCTCTTCCTCAT	0.527000										HNSCC(46;0.14)			70	107					8.27458e-37	1.11411e-36	1	1	0
PLEC	5339	broad.mit.edu	37	8	144993745	144993745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144993745G>A	ENST00000322810.4	-	32	10824	c.10655C>T	c.(10654-10656)gCg>gTg	p.A3552V	PLEC_ENST00000354589.3_Missense_Mutation_p.A3415V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3415V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3393V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3401V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3419V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3438V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3442V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3383V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3552	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCACGCCCGCCTTCACGGC	0.687000													11	22					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284706	46284706	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284706T>C	ENST00000256413.3	+	8	1296	c.1001T>C	c.(1000-1002)aTc>aCc	p.I334T	CTIF_ENST00000382998.4_Missense_Mutation_p.I334T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	334					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCCGAGCGCATCGGGGAGCGG	0.552000													90	161					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912848	23912848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912848C>T	ENST00000382298.3	-	10	5755	c.5167G>A	c.(5167-5169)Gca>Aca	p.A1723T	SACS_ENST00000382292.3_Missense_Mutation_p.A1723T|SACS_ENST00000402364.1_Missense_Mutation_p.A973T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1723					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTTCAATGCTTTGGAAGAG	0.363000													18	39					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209230	3209230	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209230G>A	ENST00000380059.3	-	18	2546	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	SLC4A11_ENST00000539553.1_Silent_p.F772F|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.F788F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	788	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGTAGAGGAAGAGGCCAT	0.677000													18	38					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146067419G>A	ENST00000454497.2	-	14	1364	c.1227_splice	c.e14+1	p.S409_splice	OTUD4_ENST00000447906.2_Splice_Site_p.S474_splice|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373000													16	43					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34894404	34894404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34894404T>C	ENST00000592983.1	+	2	2034	c.1454T>C	c.(1453-1455)tTt>tCt	p.F485S	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.F485S			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	485					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTATATGTTTTCCAACTGT	0.348000													7	63					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66937019	66937019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66937019T>C	ENST00000269080.2	-	3	318	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ABCA8_ENST00000586539.1_Missense_Mutation_p.T61A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T61A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	61						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGTCCATGGTAAGCAGTGAA	0.363000													8	59					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169842815	169842815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169842815G>A	ENST00000335742.7	+	18	3813	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H	PALLD_ENST00000261509.6_Missense_Mutation_p.R977H|PALLD_ENST00000507735.1_Missense_Mutation_p.R490H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R595H|PALLD_ENST00000505667.1_Missense_Mutation_p.R994H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1201	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTCACGTGATGCCGGC	0.537000									Pancreatic Cancer, Familial Clustering of				17	31					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151101986	151101986	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151101986A>G	ENST00000474524.1	+	33	4839	c.4801A>G	c.(4801-4803)Aat>Gat	p.N1601D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1461D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1601					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCATACATGAATTTAGTAAA	0.363000													8	69					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79746880	79746880	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79746880C>T	ENST00000281127.7	+	1	1125	c.247_splice	c.e1+1	p.H82_splice	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Splice_Site_p.H82_splice|NRXN3_ENST00000557594.1_Splice_Site_p.H82_splice|NRXN3_ENST00000554719.1_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	82					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGGACACGGTAGGTCTC	0.488000													5	90					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45923673	45923673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45923673C>T	ENST00000300853.3	-	4	925	c.334G>A	c.(334-336)Gta>Ata	p.V112I	ERCC1_ENST00000423698.2_Missense_Mutation_p.V40I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V112I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V112I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V112I|ERCC1_ENST00000013807.5_Missense_Mutation_p.V112I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	112					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.V112I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AACTTCAGTACGGGATTGCCC	0.582000								Nucleotide excision repair (NER)					7	11					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31637509	31637509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31637509G>T	ENST00000379416.3	-	1	72	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	8	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATTCACAAAGAAAACCAATT	0.498000													32	106					2.48696e-23	3.29125e-23	1	1	0
DMWD	1762	broad.mit.edu	37	19	46289657	46289657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46289657C>A	ENST00000270223.6	-	3	1142	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	DMWD_ENST00000377735.3_Missense_Mutation_p.G366V	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	366					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTTGTGGCCATGGCCTCG	0.672000													28	41					3.73148e-12	4.68205e-12	1	1	0
SPG11	80208	broad.mit.edu	37	15	44920947	44920947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44920947C>A	ENST00000261866.7	-	10	2003	c.1987G>T	c.(1987-1989)Gat>Tat	p.D663Y	SPG11_ENST00000427534.2_Missense_Mutation_p.D663Y|SPG11_ENST00000558319.1_Missense_Mutation_p.D663Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D663Y|SPG11_ENST00000559193.1_Missense_Mutation_p.D663Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	663					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTATAGCATCTGTTAGCTTC	0.348000													6	119					0.0293803	0.0301098	1	1	0
PHRF1	57661	broad.mit.edu	37	11	609277	609277	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609277T>G	ENST00000264555.5	+	14	3949	c.3821T>G	c.(3820-3822)tTc>tGc	p.F1274C	PHRF1_ENST00000416188.2_Missense_Mutation_p.F1273C|PHRF1_ENST00000533464.1_Missense_Mutation_p.F1270C|PHRF1_ENST00000413872.2_Missense_Mutation_p.F1272C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1274							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TTTGATGATTTCTCAAGCGAC	0.597000													3	80					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519916	62519916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519916G>A	ENST00000394807.3	-	2	1496	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCTGCTTCGTACTCAGAAG	0.542000													18	42					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936679	119936679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119936679C>T	ENST00000297350.4	-	5	1518	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	380					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTTCTGATACAATTTGTACA	0.383000													57	95					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922652	235922652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922652G>T	ENST00000389794.3	-	23	6675	c.6501C>A	c.(6499-6501)agC>agA	p.S2167R	LYST_ENST00000389793.2_Missense_Mutation_p.S2167R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2167					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGACTCACAGCTACTGATGA	0.453000													8	124					5.4927e-09	6.6252e-09	1	1	0
SMC5	23137	broad.mit.edu	37	9	72897424	72897424	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72897424G>A	ENST00000361138.5	+	7	964	c.906G>A	c.(904-906)ggG>ggA	p.G302G		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	302					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAAAGAAGGGCAGATTCCTG	0.368000													36	40					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953937	165953937	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165953937T>G	ENST00000360093.3	-	23	4555	c.4064A>C	c.(4063-4065)aAt>aCt	p.N1355T	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1306T|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1355T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1355						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCAAACAAATTCACACCCAT	0.423000													5	68					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333158	101333158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101333158G>A	ENST00000392979.3	+	3	482	c.121G>A	c.(121-123)Gat>Aat	p.D41N	ANO4_ENST00000538618.1_Missense_Mutation_p.D242N|ANO4_ENST00000392977.3_Missense_Mutation_p.D76N|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	76						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGATGACGATTCTCTTCT	0.403000										HNSCC(74;0.22)			27	60					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923202	111923202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111923202C>T	ENST00000305815.5	-	17	2287	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E631K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	679					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTGCTAACTCGAATATGTTC	0.289000													45	79					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37041325G>T	ENST00000379242.3	+	16	2205		c.e16-1		VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000497382.1_Splice_Site|VIT_ENST00000389975.3_Splice_Site|VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000401530.1_Splice_Site	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512000													20	15					3.51602e-12	4.4132e-12	1	1	0
ANXA6	309	broad.mit.edu	37	5	150512099	150512099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150512099G>A	ENST00000354546.5	-	10	901	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ANXA6_ENST00000523714.1_Missense_Mutation_p.P193L|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.P225L|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	225						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTTCAATCGGCTTCCCTGT	0.542000													5	13					0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99213323	99213323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213323G>A	ENST00000393760.1	+	7	942	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R133Q|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TATAACCATCGGTACTTCTTC	0.488000													62	79					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115651934	115651934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115651934C>T	ENST00000374228.4	-	1	1259	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	343						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAAAGCAGCGGGAGAAGAC	0.527000													8	13					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546566	23546566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23546566G>T	ENST00000449606.1	-	4	632	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	EARS2_ENST00000563459.1_Missense_Mutation_p.L201M|EARS2_ENST00000563232.1_Missense_Mutation_p.L201M|EARS2_ENST00000564501.1_Missense_Mutation_p.L201M|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	201					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CCATAGACCAGGTCCTGGAAG	0.627000													5	54					1.23904e-05	1.39987e-05	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52417476	52417476	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52417476G>A	ENST00000420323.2	+	51	8277	c.8016G>A	c.(8014-8016)gcG>gcA	p.A2672A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATACTGCGGACGAGCAGG	0.557000													4	11					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537538	28537538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28537538T>C	ENST00000401766.2	-	10	1956	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T482A			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	482					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACAAAAGTCAGGGTGACC	0.592000													5	57					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469301	10469301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10469301C>A	ENST00000382483.3	-	4	2530	c.2307G>T	c.(2305-2307)agG>agT	p.R769S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	769					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGAGCATGTCCTGGACCCCG	0.662000													21	41					1.10513e-12	1.39297e-12	1	1	0
PKN3	29941	broad.mit.edu	37	9	131479061	131479061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131479061G>A	ENST00000291906.4	+	16	2237	c.1844G>A	c.(1843-1845)gGc>gAc	p.G615D	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	615	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCTGTGGGCTGCACAGGG	0.582000													50	62					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62259551	62259551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62259551G>A	ENST00000216294.4	+	9	1107	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	335					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ACACAAGGAAGATAAACCTTT	0.289000													27	47					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640600	142640600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142640600G>A	ENST00000355265.2	-	15	2150	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	559					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGAATGGGGGTTGGAGGAG	0.537000													31	26					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504815	7504815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7504815G>A	ENST00000250113.7	-	7	906	c.572C>T	c.(571-573)gCa>gTa	p.A191V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	191						cytosolic large ribosomal subunit	protein binding|RNA binding	p.A191E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAGCAGAGATGCTCGCTTCAC	0.493000													64	93					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482688	95482688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95482688G>A	ENST00000356884.6	-	4	1023	c.956C>T	c.(955-957)aCg>aTg	p.T319M	BICD2_ENST00000375512.3_Missense_Mutation_p.T319M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	319					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGGGCGTGGAGGTCTT	0.622000													30	32					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50112928	50112928	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50112928C>T	ENST00000299192.7	+	7	1231	c.1041_splice	c.e7+1	p.P347_splice	HEATR3_ENST00000285767.4_Splice_Site_p.P261_splice	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	347							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATTTACTTCCGGTAAGTCAG	0.343000													24	57					0	0	1	0	0
TRBV6-5	0	broad.mit.edu	37	7	142180690	142180690	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142180690C>A	ENST00000390368.2	-	0	234																											ATGCCTGGGTCTTGTCGATAC	0.507000													40	467					6.33695e-27	8.44593e-27	1	1	0
SPC25	57405	broad.mit.edu	37	2	169745979	169745979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169745979C>T	ENST00000282074.2	-	2	192	c.51G>A	c.(49-51)tgG>tgA	p.W17*	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	17	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGAATTTATTCCAAAATTCAT	0.368000													13	19					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18682533	18682533	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18682533C>A	ENST00000308799.4	+	12	3327	c.3108C>A	c.(3106-3108)atC>atA	p.I1036I	FBXW10_ENST00000395665.4_Silent_p.I1027I|FBXW10_ENST00000395667.1_Silent_p.I1026I|FBXW10_ENST00000301938.4_Silent_p.I974I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1027										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGGAAGATCAAAGGCCTGC	0.463000													22	30					1.22574e-08	1.47244e-08	1	1	0
B4GALNT3	283358	broad.mit.edu	37	12	667216	667216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:667216C>T	ENST00000266383.5	+	17	2582	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	857						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAACTTTGAACGCTCAGCTGG	0.557000													12	36					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91715584	91715584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91715584C>T	ENST00000359028.2	+	37	9304	c.9079C>T	c.(9079-9081)Cga>Tga	p.R3027*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R2973*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3023*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3027					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAGACTGGCGAGGTGAACT	0.393000			T	BRAF	papillary thyroid								137	99					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170374879	170374879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170374879C>T	ENST00000284669.1	+	4	1633	c.1556C>T	c.(1555-1557)aCa>aTa	p.T519I	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.T457I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.T457I	NM_006063.2	NP_006054.2			kelch-like family member 41																		GACCTTACAACAAATAAGTGA	0.353000													23	39					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258460	25258460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258460C>T	ENST00000328086.7	-	5	1860	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGAGAATTGCCAGGAAAGTC	0.468000													34	59					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310806	75310806	+	Missense_Mutation	SNP	C	C	T	rs138727668	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75310806C>T	ENST00000361900.6	+	7	650	c.443C>T	c.(442-444)gCg>gTg	p.A148V	SCAMP5_ENST00000562212.1_Missense_Mutation_p.A156V|SCAMP5_ENST00000425597.3_Missense_Mutation_p.A148V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A77V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A81V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	148					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATTGGCTCGGCGGTGGTGATG	0.577000													7	105					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161790922	161790922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161790922A>G	ENST00000367942.3	+	9	1225	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	386					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TAGTATTGGCATTTATAATAC	0.318000													8	110					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39648331	39648331	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39648331G>T	ENST00000216832.4	+	7	602	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	179	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTTGAAGTTCAGGCAGA	0.388000													29	44					1.17739e-12	1.48344e-12	1	1	0
OR5B3	441608	broad.mit.edu	37	11	58170821	58170821	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58170821A>G	ENST00000309403.2	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGAACCTGCAGTTCTGAGTC	0.418000													19	122					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748217	8748217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8748217C>T	ENST00000276282.6	-	1	2938	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	784										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACTGATGGAGCTGGGTGGCCC	0.632000													16	32					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418000													53	136					0	0	1	0	0
LNX2	0	broad.mit.edu	37	13	28127484	28127484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28127484C>T	ENST00000316334.3	-	8	1768	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	547	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGGCAACAGCAGGGGACGCG	0.498000													17	44					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067588	46067588	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067588T>A	ENST00000295452.4	-	4	502	c.335A>T	c.(334-336)gAt>gTt	p.D112V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAAAATTATATCTATTGTATA	0.269000													13	6					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794287	6794287	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6794287G>T	ENST00000297435.2	-	2	259	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	45					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCATGCAAAGGAAATAGATA	0.562000													4	58					0.150653	0.152692	1	1	0
SPESP1	246777	broad.mit.edu	37	15	69238356	69238356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69238356G>T	ENST00000310673.3	+	2	637	c.483G>T	c.(481-483)atG>atT	p.M161I	NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	161					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGAATGTTGCCAGTTG	0.438000													38	54					4.92203e-23	6.50827e-23	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46387584	46387584	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46387584G>A	ENST00000302165.3	-	1	1792	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGACAGCTTCGGCCCCCGCTG	0.716000													6	14					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76548828	76548828	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76548828A>G	ENST00000389840.5	-	15	2362	c.2238T>C	c.(2236-2238)atT>atC	p.I746I	DNAH17_ENST00000585328.1_Silent_p.I746I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGACATCAATTGCTTCCA	0.423000													16	183					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50667171	50667171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50667171G>A	ENST00000355832.5	-	21	4250	c.4172C>T	c.(4171-4173)gCt>gTt	p.A1391V	ERCC6_ENST00000542458.1_Missense_Mutation_p.A761V|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1391					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCATTTTAGCCAAGAGTGA	0.507000								Direct reversal of damage;Nucleotide excision repair (NER)					17	111					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262002	36262002	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36262002C>A	ENST00000394571.2	+	4	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P	PNPLA1_ENST00000312917.5_Silent_p.P94P|PNPLA1_ENST00000388715.3_Silent_p.P85P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	180	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCATGCAGCCCTGTGCCTTCT	0.622000													15	31					2.23348e-06	2.57349e-06	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76045849	76045849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76045849G>A	ENST00000335749.4	+	3	1275	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	TNRC6C_ENST00000588061.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V236I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	236	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGTTTCTCAAGTCAGTGGGGG	0.542000													6	120					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70237985	70237985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237985G>A	ENST00000553521.1	+	9	2079	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SRSF5_ENST00000553635.1_Missense_Mutation_p.R206H|SRSF5_ENST00000394366.2_Missense_Mutation_p.R209H|SRSF5_ENST00000557154.1_Missense_Mutation_p.R209H|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	209	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						TCCCGTAGTCGCAAATCTTAC	0.537000													36	67					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31302206	31302206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31302206G>A	ENST00000382310.3	+	12	2647	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T	OSBP2_ENST00000332585.6_Silent_p.T877T|OSBP2_ENST00000403222.3_Silent_p.T711T|OSBP2_ENST00000446658.2_Silent_p.T876T|OSBP2_ENST00000407373.1_Silent_p.T704T|OSBP2_ENST00000401475.1_Silent_p.T510T|OSBP2_ENST00000535268.1_Silent_p.T421T|OSBP2_ENST00000437268.2_Silent_p.T620T			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ATGCCTACACGCCACTGTGGT	0.647000													4	50					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49249026	49249026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49249026G>T	ENST00000332955.2	-	2	638	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	31					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTAGCGCCAGCACGACAGAC	0.572000													7	75					8.12818e-05	8.99451e-05	1	1	0
MGP	4256	broad.mit.edu	37	12	15035207	15035207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15035207C>A	ENST00000539261.1	-	4	312	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Nonsense_Mutation_p.E85*	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	60	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAGAGCGTTCTCGGATCCTA	0.418000													11	100					0.000978159	0.00105116	1	1	0
IVL	3713	broad.mit.edu	37	1	152883903	152883903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152883903G>A	ENST00000368764.3	+	2	1694	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	IVL_ENST00000392667.2_Missense_Mutation_p.V398M			P07476	INVO_HUMAN	involucrin	544					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcCTGTGTTTGCCCC	0.587000													4	33					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202803	28202803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28202803C>T	ENST00000354638.3	-	16	1870	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	OCA2_ENST00000353809.5_Missense_Mutation_p.R548H|OCA2_ENST00000382996.2_Missense_Mutation_p.R572H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	572					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCAGGCGGCGCACAGCTGT	0.657000									Oculocutaneous Albinism				22	23					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657132	33657132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33657132G>A	ENST00000374316.5	+	51	7872	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2271					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATCCTGCGCTCCATCTAC	0.582000													24	39					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101341917	101341917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101341917G>A	ENST00000344327.3	-	9	2830	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	TRPC6_ENST00000348423.4_Silent_p.N686N|TRPC6_ENST00000360497.4_Silent_p.N747N|TRPC6_ENST00000532133.1_Silent_p.N724N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	802					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTTACCTTGTTCATCTCTG	0.378000													48	112					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140161738	140161738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140161738G>A	ENST00000343053.4	+	10	1622	c.1285G>A	c.(1285-1287)Gtc>Atc	p.V429I		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GCTGTACTACGTCCTGCACAT	0.677000													11	13					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47074068	47074068	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47074068C>T	ENST00000395460.2	+	3	317	c.280_splice	c.e3+1	p.G93_splice	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378615.3_Splice_Site_p.G93_splice|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378618.2_Splice_Site_p.G93_splice|C11orf49_ENST00000278460.7_Splice_Site_p.G93_splice	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	93										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GCAAAAATGGCGGTAAGTCTT	0.463000													26	29					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799956	27799956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799956G>A	ENST00000408964.2	+	1	568	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	173										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAGGCATAGATACTGTAGA	0.403000													28	56					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74607198	74607198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74607198C>A	ENST00000253159.8	+	10	1839	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	ZNF236_ENST00000320610.9_Missense_Mutation_p.F549L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	547					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGAGCTTCTCCACCTCTG	0.617000													15	22					6.31663e-08	7.49729e-08	1	1	0
TTK	7272	broad.mit.edu	37	6	80744846	80744846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80744846C>T	ENST00000509894.1	+	15	2585	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	TTK_ENST00000230510.3_Nonsense_Mutation_p.R586*|TTK_ENST00000369798.2_Nonsense_Mutation_p.R587*			P33981	TTK_HUMAN	TTK protein kinase	587	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGATCATCCGACTTTATGA	0.279000													28	47					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44173377	44173377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44173377C>T	ENST00000260665.7	-	21	2142	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	695					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCTTTTTGCATATTCTAAA	0.318000													4	37					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927174	36927174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36927174G>A	ENST00000310758.4	-	18	2352	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ELMO1_ENST00000341056.3_Missense_Mutation_p.R271W|ELMO1_ENST00000396040.2_Missense_Mutation_p.R89W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R569W|ELMO1_ENST00000396045.3_Missense_Mutation_p.R89W|ELMO1_ENST00000448602.1_Missense_Mutation_p.R569W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	569	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGCCTCCGCCGGGCATTG	0.512000													5	42					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346483	116346483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346483C>T	ENST00000374140.2	+	21	3000	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	RGS3_ENST00000350696.5_Silent_p.L931L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.L252L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Silent_p.L650L|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Silent_p.L252L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	931					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTCTCACTGCGTGTGCA	0.672000													26	36					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849401	106849401	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:106849401T>G	ENST00000526355.1	-	3	899	c.431A>C	c.(430-432)aAc>aCc	p.N144T	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N144T|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N144T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	144					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTTCTTTGTTGGAGTGGTC	0.328000													19	32					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158455046	158455046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158455046G>A	ENST00000409339.3	-	16	1942	c.1829C>T	c.(1828-1830)aCa>aTa	p.T610I	NCAPG2_ENST00000356309.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.T402I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T610I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.T111I|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T610I			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	610					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TACTGACAGTGTTTTGTCCAG	0.343000													9	89					0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28306976	28306976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28306976G>A	ENST00000335272.5	-	3	249	c.173C>T	c.(172-174)aCg>aTg	p.T58M	PITPNB_ENST00000455418.3_Missense_Mutation_p.T60M|PITPNB_ENST00000320996.10_Missense_Mutation_p.T58M	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	58					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATTTTGTGCGTATACTGTCC	0.398000													29	64					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512503	61512503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61512503C>A	ENST00000266070.4	-	16	5130	c.4805G>T	c.(4804-4806)gGc>gTc	p.G1602V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1602V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGCGCCTGGCCCACGAGGCC	0.701000													4	11					0.014758	0.0152625	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949529	17949529	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17949529G>A	ENST00000361221.3	+	12	1218	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ARHGEF10L_ENST00000452522.1_Silent_p.A314A|ARHGEF10L_ENST00000375420.3_Silent_p.A111A|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.A314A|ARHGEF10L_ENST00000375408.3_Silent_p.A131A|ARHGEF10L_ENST00000434513.1_Silent_p.A353A|ARHGEF10L_ENST00000167825.4_Silent_p.A131A	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	353	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCAAGGCGCTGAGCGCCC	0.677000													14	25					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417658	46417658	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417658A>G	ENST00000341294.2	-	1	378	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	98					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CGCACACGGGACACACGTAGT	0.652000													4	23					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40744860	40744860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40744860C>T	ENST00000392038.2	-	8	958	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AKT2_ENST00000311278.6_Silent_p.Q220Q|AKT2_ENST00000579047.1_Silent_p.Q158Q|AKT2_ENST00000424901.1_Silent_p.Q220Q	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	220	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTCGTGGGTCTGGAAGGCAT	0.652000			A		"""ovarian, pancreatic """								26	33					0	0	1	0	0
CHRNA3	0	broad.mit.edu	37	15	78894311	78894311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78894311C>T	ENST00000326828.5	-	5	1057	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	225					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGATCTCCTCGCAGCAGTTG	0.547000													3	29					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803351	7803351	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7803351G>T	ENST00000380358.4	+	16	2860	c.2859_splice	c.e16+1	p.K953_splice	CHD3_ENST00000358181.4_Splice_Site_p.K894_splice|CHD3_ENST00000330494.7_Splice_Site_p.K894_splice	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	894					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGTCCAAGGTGAGTGAGG	0.473000													13	15					4.3838e-07	5.12524e-07	1	1	0
CDC45	8318	broad.mit.edu	37	22	19484966	19484966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19484966C>A	ENST00000407835.1	+	9	905	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	CDC45_ENST00000404724.3_Missense_Mutation_p.L171M|CDC45_ENST00000437685.2_Missense_Mutation_p.L249M|CDC45_ENST00000263201.1_Missense_Mutation_p.L217M			O75419	CDC45_HUMAN	cell division cycle 45	217					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAATGACATGCTGTGGTACGT	0.547000													40	51					3.78316e-11	4.70432e-11	1	1	0
OR11A1	0	broad.mit.edu	37	6	29394836	29394836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29394836C>T	ENST00000377149.1	-	5	1055	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	OR11A1_ENST00000377148.1_Missense_Mutation_p.V195M|OR11A1_ENST00000377147.2_Missense_Mutation_p.V195M|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						ACCTGAGCCACTCTGGGATCC	0.522000													4	31					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099767	110099767	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110099767T>G	ENST00000518632.1	+	2	377	c.26T>G	c.(25-27)cTg>cGg	p.L9R	TRHR_ENST00000311762.2_Missense_Mutation_p.L9R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	9						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCAGTGAACTGAACCAAACA	0.458000													5	41					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108116774	108116774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108116774G>T	ENST00000370056.4	-	26	2671	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	VAV3_ENST00000415432.2_Missense_Mutation_p.F239L|VAV3_ENST00000544443.1_Missense_Mutation_p.F203L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.F827L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTGCACAGAAGTCATACC	0.428000													13	141					1.05317e-09	1.28483e-09	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41009792	41009792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41009792C>T	ENST00000352632.3	+	12	1504	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A473V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A473V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	473					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAACACGAAGCGATCGAGGCA	0.627000													4	24					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56468377	56468377	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468377T>G	ENST00000370754.5	-	40	10826	c.10827A>C	c.(10825-10827)caA>caC	p.Q3609H	DST_ENST00000312431.6_Missense_Mutation_p.Q3431H|DST_ENST00000370769.4_Missense_Mutation_p.Q3431H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.Q3431H|DST_ENST00000446842.2_Missense_Mutation_p.Q3105H			Q03001	DYST_HUMAN	dystonin	3431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGTCTAAGTTGATTCTTCA	0.388000													24	182					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21900676	21900676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21900676A>G	ENST00000379484.5	+	11	1562	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	488					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAGACAATGATGTCAAAGAT	0.453000													64	110					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536109	186536109	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536109A>T	ENST00000431808.1	-	18	3322	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	SORBS2_ENST00000418609.1_Missense_Mutation_p.L824H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.L551H|SORBS2_ENST00000284776.7_Missense_Mutation_p.L920H|SORBS2_ENST00000393528.3_Missense_Mutation_p.L486H|SORBS2_ENST00000449407.2_Missense_Mutation_p.L464H|SORBS2_ENST00000355634.5_Missense_Mutation_p.L1020H|SORBS2_ENST00000437304.2_Missense_Mutation_p.L644H|SORBS2_ENST00000448662.2_Missense_Mutation_p.L481H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	920	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493000													7	99					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776289	38776289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776289T>C	ENST00000308973.4	-	4	1528	c.923A>G	c.(922-924)cAt>cGt	p.H308R	TLR10_ENST00000361424.2_Missense_Mutation_p.H308R|TLR10_ENST00000506111.1_Missense_Mutation_p.H308R|TLR10_ENST00000508334.1_Missense_Mutation_p.H308R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	308					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACTCTGAAATGTACATGCTC	0.343000													6	82					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827295	182827295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182827295C>A	ENST00000367549.3	+	8	840	c.730C>A	c.(730-732)Ctg>Atg	p.L244M		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	244	DRBM 2.|Interaction with BRCA1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTGTGCCCTGTCACTTGT	0.408000													27	62					6.32553e-13	7.99037e-13	1	1	0
PCDHGA6	0	broad.mit.edu	37	5	140754977	140754977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140754977G>A	ENST00000517434.1	+	1	1327	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAATGTGGCAGACACCAA	0.498000													9	105					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224501	77224501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77224501G>T	ENST00000458128.1	-	1	634	c.635C>A	c.(634-636)aCt>aAt	p.T212N	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	212					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						GGGAATACCAGTCGGCAGGTT	0.512000													7	148					9.70103e-10	1.18443e-09	1	1	0
TPRG1L	127262	broad.mit.edu	37	1	3545130	3545130	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3545130T>C	ENST00000378344.2	+	5	853	c.782T>C	c.(781-783)cTg>cCg	p.L261P	TPRG1L_ENST00000344579.5_Missense_Mutation_p.L202P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	261						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGGCGAAACTGGGCTACTCC	0.602000													14	24					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20990276	20990276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20990276C>A	ENST00000380249.1	+	44	5523	c.5159C>A	c.(5158-5160)cCa>cAa	p.P1720Q	FOCAD_ENST00000605086.1_Missense_Mutation_p.P1156Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.P1720Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1720						integral to membrane	binding										GGCAGGAGTCCAATGCACAGG	0.587000													4	25					0.00909568	0.00947522	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3428618	3428618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3428618C>T	ENST00000356575.4	-	8	1154	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	MEGF6_ENST00000294599.4_Missense_Mutation_p.V205M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	310	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGACACACGCACTTGAAG	0.667000													38	49					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751594	57751594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751594C>A	ENST00000274289.3	-	11	1697	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	466					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCCATGGTACTGTCTTCAAG	0.438000													6	54					3.59834e-05	4.01776e-05	1	1	0
CEP164	22897	broad.mit.edu	37	11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587000													37	71					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139290161	139290161	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139290161G>T	ENST00000298532.2	-	3	607	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	80					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGGTCTTCAGGGAGGGTTTT	0.567000													11	200					0.00136819	0.00146042	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76789241	76789241	+	Silent	SNP	C	C	T	rs147158118		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789241C>T	ENST00000287239.4	+	18	5148	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	KAT6B_ENST00000372724.1_Silent_p.S1261S|KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372725.1_Silent_p.S1261S|KAT6B_ENST00000372714.1_Silent_p.S1261S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1553					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AGGAGAGCAGCGAACAGGACG	0.527000													22	32					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160831	12160831	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12160831A>G	ENST00000263035.4	+	15	2548	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	829					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGAAGCATGACTTTGCCATC	0.468000													25	155					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634963	33634963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33634963G>A	ENST00000380099.3	+	4	1755	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	583	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCCCAGATCGCTTTACTCCA	0.507000													37	38					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35748188	35748188	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35748188G>T	ENST00000400441.3	-	18	2282	c.2283C>A	c.(2281-2283)cgC>cgA	p.R761R	MROH8_ENST00000441008.2_Silent_p.R747R|MROH8_ENST00000217333.8_Silent_p.R590R					maestro heat-like repeat family member 8																		AGTCTTTAAAGCGGGCAACAG	0.498000													12	78					3.07112e-06	3.52574e-06	1	1	0
C1orf186	440712	broad.mit.edu	37	1	206243553	206243553	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206243553C>A	ENST00000331555.5	-	0	588					NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186							integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAACCACCCTGGCACCTCG	0.557000													7	41					0.00307968	0.00325696	1	1	0
VIL1	7429	broad.mit.edu	37	2	219301972	219301972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219301972G>T	ENST00000248444.5	+	17	2185	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	VIL1_ENST00000392114.2_Missense_Mutation_p.K388N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	699	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTGAAGCAGGGACACG	0.602000													13	32					0.00010058	0.000111121	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143074516	143074516	+	Missense_Mutation	SNP	G	G	A	rs78304150	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074516G>A	ENST00000367603.2	-	10	7811	c.7069C>T	c.(7069-7071)Ccc>Tcc	p.P2357S	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2357S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2357S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTGGTGGGGCTCCTGCACC	0.567000													12	29					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139543	75139543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75139543C>T	ENST00000539798.1	-	2	1009	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KLHL35_ENST00000376292.4_Missense_Mutation_p.G117D	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	117										lung(2)|stomach(1)	3						GCGAGTGTAGCCGGGCAGGCT	0.642000													14	36					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923412G>A	ENST00000367097.3	+	13	4074	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652000													30	36					0	0	1	0	0
RP11-707M1.1	0	broad.mit.edu	37	11	49805585	49805585	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49805585G>A	ENST00000527477.1	+	0	1273																											ATGGCCATGAGGCGCCTGGGT	0.527000													22	38					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43524058	43524058	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43524058G>T	ENST00000282041.5	-	8	1739	c.1705C>A	c.(1705-1707)Ctc>Atc	p.L569I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	569					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTAAGGAGAATCCAACTG	0.393000													35	55					1.36161e-19	1.78291e-19	1	1	0
PCM1	5108	broad.mit.edu	37	8	17814820	17814820	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17814820A>T	ENST00000325083.8	+	12	2133	c.1694A>T	c.(1693-1695)aAt>aTt	p.N565I	PCM1_ENST00000519253.1_Missense_Mutation_p.N565I|PCM1_ENST00000524226.1_Missense_Mutation_p.N565I	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	565					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTCATAGTAATGCACAGTGT	0.358000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								8	116					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216472	139216472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139216472C>T	ENST00000274710.3	+	10	1685	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	494					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGACGCGAATCCTGGA	0.577000													39	62					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231349664G>A	ENST00000444294.3	+	9	3079	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T|TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652000													7	42					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704226	46704226	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704226G>T	ENST00000454366.1	+	4	360	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCAAATGAAGATGATGAAGT	0.393000													11	118					0.00829132	0.00869385	1	1	0
MEGF11	84465	broad.mit.edu	37	15	66190420	66190420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66190420C>T	ENST00000409699.2	-	23	3159	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	MEGF11_ENST00000395625.2_Missense_Mutation_p.S921N|MEGF11_ENST00000288745.3_Missense_Mutation_p.S921N|MEGF11_ENST00000422354.1_Missense_Mutation_p.S996N|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	996						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGACCACACTGACTGTGGG	0.448000													5	24					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219227	133219227	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219227A>T	ENST00000320574.5	-	37	4860	c.4817T>A	c.(4816-4818)tTc>tAc	p.F1606Y	POLE_ENST00000535270.1_Missense_Mutation_p.F1579Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1606					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACCAGTGGGAATTCCTCCAA	0.602000								DNA polymerases (catalytic subunits)					8	43					0	0	1	0	0
ZNF264	0	broad.mit.edu	37	19	57723301	57723301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57723301G>A	ENST00000263095.6	+	4	1250	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R279Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGCACCAGCGGATTCACAGT	0.517000													24	33					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241835229	241835229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241835229G>T	ENST00000388934.4	-	1	344	c.186C>A	c.(184-186)tcC>tcA	p.S62S		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	62										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGCCACGGGAGTAGTCCA	0.662000													12	24					3.07112e-06	3.52574e-06	1	1	0
GEMIN4	50628	broad.mit.edu	37	17	649630	649630	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:649630G>A	ENST00000576778.1	-	1	2961	c.1620C>T	c.(1618-1620)cgC>cgT	p.R540R	GEMIN4_ENST00000319004.5_Silent_p.R551R			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	551					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTATGACCAGGCGGGCCACGG	0.552000													8	41					0	0	1	0	0
AC027763.2	0	broad.mit.edu	37	17	6913121	6913121	+	Missense_Mutation	SNP	C	C	T	rs151263719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6913121C>T	ENST00000399540.2	-	2	234	c.91G>A	c.(91-93)Gca>Aca	p.A31T	AC027763.2_ENST00000575727.1_Missense_Mutation_p.A31T|AC027763.2_ENST00000574377.1_Missense_Mutation_p.A43T|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Missense_Mutation_p.A31T|ALOX12_ENST00000251535.6_Silent_p.C532C																							TCACCATGTGCGTCTTCACGT	0.552000													32	54					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679256	100679256	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100679256C>A	ENST00000306151.4	+	3	4623	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1520	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.478000													54	186					5.99346e-17	7.75334e-17	1	1	0
CPN1	1369	broad.mit.edu	37	10	101841303	101841303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101841303C>T	ENST00000370418.3	-	1	331	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	27	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCATCATAGCGGTGGTGGCG	0.567000													8	27					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155232	35155232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35155232C>T	ENST00000373913.3	+	13	3248	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L	DLGAP4_ENST00000401952.2_Missense_Mutation_p.P923L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P926L|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P387L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P926L|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	926					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAACCACCCCCTCCGGTC	0.562000													6	5					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54763817	54763817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763817C>T	ENST00000307259.8	-	3	791	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PPAP2A_ENST00000264775.5_Missense_Mutation_p.G125D|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CCGCAGTCTGCCTATTGAATA	0.423000													46	51					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716623	11716623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11716623C>A	ENST00000381486.2	+	5	899	c.599C>A	c.(598-600)aCt>aAt	p.T200N	GREB1_ENST00000389825.3_Missense_Mutation_p.T90N|GREB1_ENST00000234142.5_Missense_Mutation_p.T200N|GREB1_ENST00000263834.5_Missense_Mutation_p.T200N|GREB1_ENST00000381483.2_Missense_Mutation_p.T200N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498000													26	78					9.39395e-14	1.19386e-13	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762300	92762300	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762300G>A	ENST00000318238.4	-	5	4201	c.2985C>T	c.(2983-2985)taC>taT	p.Y995Y	SAMD9L_ENST00000437805.1_Silent_p.Y995Y|SAMD9L_ENST00000411955.1_Silent_p.Y995Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	995										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTAGACAGTACAGGGCAA	0.353000													38	97					0	0	1	0	0
MSL3P1	0	broad.mit.edu	37	2	234775381	234775381	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775381G>A	ENST00000438684.1	-	0	733					NR_024322.1																						TGTAGACTGCGGCCTGGATGG	0.537000													6	9					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303270	243303270	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243303270A>C	ENST00000366542.1	-	16	4250	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	CEP170_ENST00000366544.1_Missense_Mutation_p.I1302S|CEP170_ENST00000366543.1_Missense_Mutation_p.I1276S|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000481987.1_Missense_Mutation_p.I136S|CEP170_ENST00000490813.1_Missense_Mutation_p.I109S|CEP170_ENST00000468254.1_5'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1400	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGCCTTGTAATTGTTAAGTG	0.428000													5	37					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362350	105362350	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362350G>A	ENST00000369774.4	-	15	2901	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	SH3PXD2A_ENST00000540321.1_Silent_p.S742S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.S710S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	875	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617000													23	27					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508090	139508090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139508090G>A	ENST00000333305.3	+	1	2570	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	10						extracellular region											ATGAAGAAACGCAGTGTGTCG	0.373000													19	48					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443582	78443582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78443582G>A	ENST00000278550.7	-	21	3379	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGCTCGAACCGCAGGATGATG	0.547000													9	12					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19369969	19369969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19369969G>T	ENST00000307015.9	+	27	4975	c.3223G>T	c.(3223-3225)Ggc>Tgc	p.G1075C	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1838C|DENND4C_ENST00000540671.1_Missense_Mutation_p.G932C|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1887C|DENND4C_ENST00000380432.2_Missense_Mutation_p.G1602C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1602						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAAGCCAGGCATGAAAAG	0.333000													6	79					5.9392e-07	6.91975e-07	1	1	0
PCCB	5096	broad.mit.edu	37	3	136048855	136048855	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136048855A>C	ENST00000468777.1	+	16	1721	c.1700A>C	c.(1699-1701)aAt>aCt	p.N567T	PCCB_ENST00000466072.1_Missense_Mutation_p.N556T|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.N556T|PCCB_ENST00000251654.4_Missense_Mutation_p.N536T|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Missense_Mutation_p.N479T|PCCB_ENST00000482086.1_Missense_Mutation_p.N420T|PCCB_ENST00000462637.1_Missense_Mutation_p.N513T|PCCB_ENST00000483687.1_Missense_Mutation_p.N517T			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	536					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAACATGCAAATATTCCATTG	0.443000													8	67					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55086459	55086459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55086459C>T	ENST00000505374.1	+	16	1320	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DDX4_ENST00000353507.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R261*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R390*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	410	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTCAATTCGACAAATAGT	0.343000													60	92					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39851175	39851175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39851175C>A	ENST00000564288.1	+	57	14695	c.13918C>A	c.(13918-13920)Cta>Ata	p.L4640I	MACF1_ENST00000545844.1_Missense_Mutation_p.L2578I|MACF1_ENST00000289893.4_Missense_Mutation_p.L3080I|MACF1_ENST00000567887.1_Missense_Mutation_p.L4677I|MACF1_ENST00000372915.3_Missense_Mutation_p.L4645I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2578I|MACF1_ENST00000361689.2_Missense_Mutation_p.L2578I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2557I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4645					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGGCATCCTAACAGGCCC	0.458000													10	22					0.0581538	0.0593651	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36564678	36564678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36564678G>A	ENST00000397799.1	-	4	828	c.604C>T	c.(604-606)Cga>Tga	p.R202*	COL8A2_ENST00000303143.4_Nonsense_Mutation_p.R202*|COL8A2_ENST00000481785.1_Nonsense_Mutation_p.R137*			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	202	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAGGCCTCGATCACCTGGG	0.726000													3	4					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241285	66241285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66241285G>A	ENST00000349459.6	+	6	941	c.657G>A	c.(655-657)ccG>ccA	p.P219P	PELI3_ENST00000524466.1_Silent_p.P243P|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Silent_p.P243P|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	243						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATGCACCCGGCAGGCGGCT	0.637000													34	24					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100162563	100162563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100162563C>A	ENST00000300176.4	+	12	1517	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	465					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACTGGACCCTCATCAAGCC	0.517000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204					0.00621372	0.00652201	1	1	0
LRRC37BP1	0	broad.mit.edu	37	17	28958955	28958955	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28958955G>A	ENST00000412831.1	+	0	183				SMURF2P1_ENST00000578265.1_RNA																							TGTTAGCAGCGCACTAAGTTA	0.458000													73	105					0	0	1	0	0
PCDHGA5	0	broad.mit.edu	37	5	140745793	140745793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140745793G>A	ENST00000518069.1	+	1	1896	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCCCTGCTGGACAGAG	0.677000													7	95					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899862	189899862	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189899862T>C	ENST00000374866.3	-	53	4407	c.4133A>G	c.(4132-4134)cAa>cGa	p.Q1378R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1378	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAGGTGATTGGTGGTCTCC	0.358000													6	58					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152507377C>T	ENST00000427231.2	-	53	7140	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393000													56	84					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73581732	73581732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73581732G>T	ENST00000394936.3	-	8	957	c.810C>A	c.(808-810)ttC>ttA	p.F270L	PSAP_ENST00000394934.1_Missense_Mutation_p.F272L			P07602	SAP_HUMAN	prosaposin	270	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTCATCACAGAACCCAACCA	0.567000													12	28					0.0931896	0.095068	1	1	0
MUC4	4585	broad.mit.edu	37	3	195538617	195538617	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195538617A>G	ENST00000463781.3	-	1	531	c.72T>C	c.(70-72)caT>caC	p.H24H	MUC4_ENST00000349607.4_Silent_p.H24H|MUC4_ENST00000475231.1_Silent_p.H24H|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000346145.4_Silent_p.H24H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	24					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGACCACATGCGGAAGGA	0.642000													7	79					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988138	92988138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92988138G>A	ENST00000268164.3	+	5	1058	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622000													19	48					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822991	19822991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822991G>A	ENST00000344099.3	-	4	1237	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGCCACATCGTTTACATTCA	0.363000													27	48					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3419179	3419179	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3419179A>G	ENST00000336727.3	+	9	3576	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.K891R|RGS12_ENST00000344733.5_Missense_Mutation_p.K891R|RGS12_ENST00000338806.4_Missense_Mutation_p.K243R|RGS12_ENST00000306648.7_Missense_Mutation_p.K289R|RGS12_ENST00000538395.1_Missense_Mutation_p.K233R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	891						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCGAGAAGAAGCGGAAA	0.537000													5	48					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036320	57036320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57036320G>A	ENST00000308031.5	+	5	1017	c.884G>A	c.(883-885)tGc>tAc	p.C295Y	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.A155T	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTAAGGAATGCAGAAAAGCC	0.383000													51	105					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441573	1441573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1441573C>T	ENST00000270349.9	-	3	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V107I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	107					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCAATGACCATGAAGAGC	0.587000													3	37					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10254557	10254557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10254557G>T	ENST00000340748.4	-	28	3188	c.2953C>A	c.(2953-2955)Ctg>Atg	p.L985M	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L985M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1001M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	985	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCATCCAGGTTGCTGCCT	0.562000													34	198					1.36161e-19	1.78291e-19	1	1	0
SENP6	26054	broad.mit.edu	37	6	76385598	76385598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76385598G>T	ENST00000370014.3	+	13	2068	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SENP6_ENST00000447266.2_Missense_Mutation_p.E483D|SENP6_ENST00000327284.8_Missense_Mutation_p.E476D|SENP6_ENST00000370010.2_Missense_Mutation_p.E476D|SENP6_ENST00000541192.1_Missense_Mutation_p.E79D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	483					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCCTGTAGAGATTATATTAA	0.343000													19	41					3.99206e-14	5.08633e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179582375	179582375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179582375G>T	ENST00000589042.1	-	87	25450	c.25226C>A	c.(25225-25227)tCt>tAt	p.S8409Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7165Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8092Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8092	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACAAAAGATGTCTGCAA	0.418000													12	18					2.80697e-09	3.39963e-09	1	1	0
WDR7	23335	broad.mit.edu	37	18	54424345	54424345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424345G>T	ENST00000254442.3	+	15	2732	c.2521G>T	c.(2521-2523)Gga>Tga	p.G841*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.G841*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	841										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTTGTCAAGAGGAGGCCATAT	0.512000													5	132					0.014758	0.0152625	1	1	0
LRRN3	54674	broad.mit.edu	37	7	110764150	110764150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764150C>A	ENST00000451085.1	+	4	2368	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LRRN3_ENST00000422987.3_Missense_Mutation_p.S441Y|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S441Y	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	441	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTATGTTTCCTTTCACTGT	0.433000													9	200					0.000673444	0.000724755	1	1	0
XPO6	23214	broad.mit.edu	37	16	28123322	28123322	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28123322C>A	ENST00000304658.5	-	17	2657	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H	XPO6_ENST00000565698.1_Missense_Mutation_p.Q705H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	719					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACACCAACACCTGGGCCTACA	0.602000													3	7					0.004672	0.0049138	1	1	0
STMN1	3925	broad.mit.edu	37	1	26227579	26227579	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26227579C>A	ENST00000399728.1	-	5	742		c.e5-1		STMN1_ENST00000426559.2_Intron|STMN1_ENST00000455785.2_Splice_Site|STMN1_ENST00000374291.1_Splice_Site|STMN1_ENST00000357865.2_Splice_Site|STMN1_ENST00000465604.1_Splice_Site	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTTATCCTGTAAAGGAA	0.443000													13	105					1.05317e-09	1.28483e-09	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123477114	123477114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123477114G>T	ENST00000280562.5	-	15	2541	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	PITPNM2_ENST00000392428.1_Missense_Mutation_p.A500D|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A779D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A779D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	779	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCGGCAGGGCGTGAAAGCG	0.682000													7	40					2.0095e-06	2.31757e-06	1	1	0
ATP4A	495	broad.mit.edu	37	19	36053484	36053484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36053484C>T	ENST00000262623.3	-	4	301	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	91					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGGTGGCCGCAGTGCGTTGG	0.706000													7	5					0	0	1	0	0
INIP	58493	broad.mit.edu	37	9	115451815	115451815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115451815C>T	ENST00000374242.4	-	4	516	c.211G>A	c.(211-213)Gct>Act	p.A71T	INIP_ENST00000374234.1_Intron|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_Intron|INIP_ENST00000374236.1_Missense_Mutation_p.A41T	NM_021218.1	NP_067041.1			INTS3 and NABP interacting protein																		ACCTGCAAAGCTGCCTTCTGT	0.478000													22	37					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619141	48619141	+	Missense_Mutation	SNP	G	G	A	rs144663654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48619141G>A	ENST00000328333.8	-	48	4827	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1574W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1574	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTTACCCGTTCCCCTTGG	0.582000													8	95					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39796515	39796515	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39796515T>C	ENST00000373272.2	+	20	2730	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	PLCG1_ENST00000373271.1_Silent_p.Y775Y|PLCG1_ENST00000244007.3_Silent_p.Y775Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	775					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGCCCTGTATGAGGGACGCA	0.557000													15	22					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155317611	155317611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155317611C>T	ENST00000368346.3	-	20	8293	c.7654G>A	c.(7654-7656)Gcc>Acc	p.A2552T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2547T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2552					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAATCTGGGCTGATGCCTCA	0.488000													51	82					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592606	83592606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592606C>A	ENST00000265362.3	-	16	2089	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S592I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	592	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAAAAATGTGCTACTATTCTC	0.438000													9	125					0.307466	0.308846	1	1	0
SYT14	255928	broad.mit.edu	37	1	210329132	210329132	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210329132C>A	ENST00000537238.1	+	8	1508	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.L411I|SYT14_ENST00000534859.1_Missense_Mutation_p.L411I|SYT14_ENST00000422431.1_Missense_Mutation_p.L456I|SYT14_ENST00000367015.1_Missense_Mutation_p.L373I|SYT14_ENST00000367019.1_Missense_Mutation_p.L411I|SYT14_ENST00000472886.1_Missense_Mutation_p.L411I	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	411	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388000													23	58					3.62473e-10	4.44982e-10	1	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10206720	10206720	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10206720G>C	ENST00000253109.4	-	2	758	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Q174E|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.Q174E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	174					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGACTGCTCTGCTGGGTGACG	0.716000													11	13					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3728653	3728653	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3728653G>A	ENST00000539908.2	+	0	111				TJP3_ENST00000587686.1_Missense_Mutation_p.G53S|TJP3_ENST00000589378.1_Missense_Mutation_p.G43S|TJP3_ENST00000262968.9_Missense_Mutation_p.G53S|TJP3_ENST00000541714.2_Missense_Mutation_p.G34S|TJP3_ENST00000382008.3_Missense_Mutation_p.G34S			O95049	ZO3_HUMAN	tight junction protein 3							tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCGGCCCGGTGGATCCAT	0.642000													18	26					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272762	77272762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77272762C>T	ENST00000251089.2	-	5	1489	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	459										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ATTTCACCTTCCAGGCTGGCA	0.537000													8	26					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212964948	212964948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212964948C>T	ENST00000366977.3	-	1	176	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	NSL1_ENST00000422588.2_Missense_Mutation_p.C53Y|NSL1_ENST00000366975.6_Missense_Mutation_p.C53Y|NSL1_ENST00000366976.1_Missense_Mutation_p.C53Y|NSL1_ENST00000473995.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	53					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAAGCGGCCGCACAGTTGTAG	0.637000													86	103					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628933	51628933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51628933C>A	ENST00000440804.3	+	2	568	c.501C>A	c.(499-501)ccC>ccA	p.P167P	SIGLEC9_ENST00000250360.3_Silent_p.P167P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	167	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTGTGCCCTGGGCCTGTG	0.657000													6	99					3.59834e-05	4.01776e-05	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21730484	21730484	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21730484T>C	ENST00000328843.6	+	36	6078	c.6047T>C	c.(6046-6048)cTc>cCc	p.L2016P	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2009P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2016	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGGAAAATCTCAAAGCTCTT	0.418000									Kartagener syndrome				46	136					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519733	113519733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519733C>A	ENST00000284601.3	-	4	1482	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	472					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCTCCTCCTTCATGTTTT	0.398000													23	65					1.10513e-12	1.39297e-12	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53686377	53686377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53686377G>T	ENST00000257934.4	+	29	6023	c.5932G>T	c.(5932-5934)Gtg>Ttg	p.V1978L	ESPL1_ENST00000552462.1_Missense_Mutation_p.V1978L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1978					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGAGAGGAGTGGTTGGGGA	0.537000													9	36					6.40141e-05	7.11719e-05	1	1	0
PRKACA	5566	broad.mit.edu	37	19	14218163	14218163	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14218163A>T	ENST00000308677.4	-	2	301	c.105T>A	c.(103-105)gcT>gcA	p.A35A	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Silent_p.A35A|PRKACA_ENST00000589994.1_Silent_p.A27A	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	35					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GCCTTACCTGAGCGGGACTTT	0.527000													6	155					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081189	67081189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67081189G>A	ENST00000284425.2	-	32	4338	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1388	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGAGCCTCGCGTCCGCTTTCC	0.552000													11	9					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463865	247463865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247463865G>T	ENST00000294753.4	-	9	2184	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	ZNF496_ENST00000366498.2_Missense_Mutation_p.L610M|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	574					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCATGTGCAGGCGCTCGTGG	0.637000													23	35					4.26978e-12	5.35206e-12	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090698	91090698	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91090698A>G	ENST00000373094.1	+	1	1040	c.195A>G	c.(193-195)ctA>ctG	p.L65L	PCDH11X_ENST00000373097.1_Silent_p.L65L|PCDH11X_ENST00000395337.2_Silent_p.L65L|PCDH11X_ENST00000406881.1_Silent_p.L65L|PCDH11X_ENST00000361724.1_Silent_p.L65L|PCDH11X_ENST00000504220.1_Silent_p.L65L|PCDH11X_ENST00000298274.8_Silent_p.L65L|PCDH11X_ENST00000361655.2_Silent_p.L65L|PCDH11X_ENST00000373088.1_Silent_p.L65L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	65	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAAGCTAGTGTACAAGA	0.448000													4	107					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	612697	612697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612697C>T	ENST00000397566.1	-	9	1908	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	IRF7_ENST00000330243.5_Missense_Mutation_p.S500N|IRF7_ENST00000397570.1_Missense_Mutation_p.S458N|IRF7_ENST00000397574.2_Missense_Mutation_p.S487N|IRF7_ENST00000348655.6_Missense_Mutation_p.S458N|IRF7_ENST00000397562.3_Missense_Mutation_p.S194N|IRF7_ENST00000525445.1_Missense_Mutation_p.S381N	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	487					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCATAGAGGCTGTTGGCGCT	0.597000													3	57					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25773856	25773856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773856G>T	ENST00000428257.1	-	9	1432	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	NGLY1_ENST00000280700.5_Missense_Mutation_p.S460Y|NGLY1_ENST00000417874.2_Missense_Mutation_p.S418Y|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.S460Y	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	460					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACTGACCCAGATATTCTTCC	0.413000													6	74					7.48243e-07	8.70085e-07	1	1	0
KLK13	26085	broad.mit.edu	37	19	51559997	51559997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51559997T>C	ENST00000595793.1	-	5	723	c.681A>G	c.(679-681)acA>acG	p.T227T	KLK13_ENST00000335422.3_Silent_p.T75T|KLK13_ENST00000595547.1_Silent_p.T154T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	227	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCATACAGTGTTCTGTTAC	0.572000													8	72					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107097	14107097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14107097C>A	ENST00000235372.7	+	8	3663	c.2807C>A	c.(2806-2808)cCt>cAt	p.P936H	PRDM2_ENST00000343137.4_Missense_Mutation_p.P735H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P936H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P735H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	936	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCCCTGCCCCTACTGTTGAG	0.562000													6	103					0.00116845	0.00124821	1	1	0
C3orf17	25871	broad.mit.edu	37	3	112732162	112732162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112732162T>C	ENST00000314400.5	-	4	621	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C3orf17_ENST00000393857.2_Missense_Mutation_p.K8E|C3orf17_ENST00000383675.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	144						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCAACAACTTGCAGGCTCCC	0.398000													18	63					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605592	54605592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54605592G>A	ENST00000371330.1	-	4	1798	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	317	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCGCCAGATGGTCAAAGTCAC	0.637000													11	19					0	0	1	0	0
IRAK3	0	broad.mit.edu	37	12	66641677	66641677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641677C>A	ENST00000261233.4	+	12	1938	c.1517C>A	c.(1516-1518)cCt>cAt	p.P506H	IRAK3_ENST00000457197.2_Missense_Mutation_p.P445H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	506					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAAAACTCCTTTTGAATGC	0.418000													38	73					1.42033e-22	1.8754e-22	1	1	0
SPN	0	broad.mit.edu	37	16	29675059	29675059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29675059C>T	ENST00000360121.3	+	2	102	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.L4F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	4					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AATGGCCACGCTTCTCCTTCT	0.627000													80	118					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	859132	859132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:859132C>T	ENST00000316157.3	-	17	1991	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	651							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAAATCTCTGCGTAGCTGGGC	0.453000													10	72					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208811164	208811164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208811164C>T	ENST00000457206.1	-	4	2046	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S540N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S540N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	540					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCAGCTACTGCAGTAATA	0.458000													48	71					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460361	27460361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27460361C>T	ENST00000337929.3	+	9	1847	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Silent_p.D458D|IL21R_ENST00000564089.1_Silent_p.D458D|IL21R_ENST00000395755.1_Silent_p.D458D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	458					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ATGGGGAGGACTGGGCTGGGG	0.662000			T	BCL6	NHL								11	24					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801251	27801251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801251G>T	ENST00000408964.2	+	1	1863	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	604										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAATCTGAGGAGTTAGCAC	0.413000													19	28					6.49762e-13	8.19883e-13	1	1	0
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23915088C>T	ENST00000382298.3	-	10	3515	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348000													37	40					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93590921	93590921	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93590921G>T	ENST00000371627.4	+	11	1637	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	420					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGAAGTAGTGGTGAAACATGA	0.353000													5	154					0.0215528	0.0221649	1	1	0
ZP1	22917	broad.mit.edu	37	11	60638464	60638464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60638464C>T	ENST00000278853.5	+	5	861	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	287	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTACTTCGTCCTCGTAGTGT	0.582000													9	190					0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47842396	47842396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47842396G>T	ENST00000371873.5	+	6	815	c.666G>T	c.(664-666)caG>caT	p.Q222H	CMPK1_ENST00000450808.2_Missense_Mutation_p.Q173H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	190					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	AAGTTGTGCAGATTTTTGACA	0.318000													6	31					0.00198382	0.00210581	1	1	0
VRTN	55237	broad.mit.edu	37	14	74824775	74824775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824775G>T	ENST00000256362.4	+	2	1530	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	430					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGTTCCCTGGCATCTCACGG	0.577000													8	62					1.26484e-09	1.54084e-09	1	1	0
ACTN4	81	broad.mit.edu	37	19	39214701	39214701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39214701C>A	ENST00000252699.2	+	14	1752	c.1676C>A	c.(1675-1677)aCc>aAc	p.T559N	ACTN4_ENST00000424234.2_Missense_Mutation_p.T169N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T340N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	559					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGTCCATACCATCGAGGAG	0.642000													22	37					6.36457e-07	7.41396e-07	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17414591	17414591	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17414591G>T	ENST00000302539.4	-	39	4821	c.4696C>A	c.(4696-4698)Ctg>Atg	p.L1566M	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1565M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1565	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGCTGAGCAGCTTCTCTGGC	0.607000													10	62					5.16669e-11	6.41398e-11	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50292706	50292706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50292706G>A	ENST00000338821.5	-	10	1105	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ATP9A_ENST00000402822.1_Missense_Mutation_p.R160W|ATP9A_ENST00000311637.5_Missense_Mutation_p.R145W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACACTCCGGAGTTCTCTG	0.443000													5	38					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685778	125685778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685778C>T	ENST00000371126.1	-	1	1056	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGTTCTTGCCGCCGCAGGCC	0.637000													19	31					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36876694	36876694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36876694G>A	ENST00000325718.7	+	15	2316	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	742	Leucine-zipper.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGATCCTGAGCCTGACGGCC	0.647000			T	MLL	AL								12	16					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236175274	236175274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236175274G>A	ENST00000264187.6	-	12	2556	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	825	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACTGGCACGTGAAAGAGCC	0.567000													21	23					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172848174	172848174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172848174G>T	ENST00000264108.4	+	11	1204	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.E305*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	390					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAACCAAATAGAAATAAGCAT	0.368000													32	37					2.16457e-27	2.88848e-27	1	1	0
LRRC55	219527	broad.mit.edu	37	11	56950053	56950053	+	Missense_Mutation	SNP	C	C	T	rs34696547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56950053C>T	ENST00000497933.1	+	1	833	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	199	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGGCCTACCGGGGCTGGTG	0.637000													52	59					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506447	98506447	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98506447G>A	ENST00000359863.4	+	14	1421	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	TRRAP_ENST00000355540.3_Silent_p.K404K|TRRAP_ENST00000446306.3_Silent_p.K404K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	404					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCGCCAAGAACATCGACG	0.642000													3	14					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89034493	89034493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89034493G>A	ENST00000251038.5	+	3	415	c.190G>A	c.(190-192)Gta>Ata	p.V64I	ZC3H14_ENST00000302216.8_Missense_Mutation_p.V64I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V30I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V64I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V30I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	64						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGATTCACCGTATGGTATGT	0.423000													15	16					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73702562	73702562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73702562C>T	ENST00000584667.1	+	11	1145	c.888C>T	c.(886-888)atC>atT	p.I296I	SAP30BP_ENST00000355423.3_Silent_p.I280I	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	296					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGTCATCTCTGCTGTGG	0.622000													50	73					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092388	132092388	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092388G>A	ENST00000370836.2	-	2	658	c.243C>T	c.(241-243)gcC>gcT	p.A81A	HS6ST2_ENST00000521489.1_Silent_p.A81A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	81						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGCGCACGCGGCTCCCGCCA	0.726000													4	12					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279298	50279298	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279298C>G	ENST00000216268.4	+	2	2465	c.1988C>G	c.(1987-1989)gCt>gGt	p.A663G		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	663						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCTCATAGCTGAAATGATT	0.458000													9	81					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3743461	3743461	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3743461A>G	ENST00000252505.3	+	8	828	c.667_splice	c.e8+1	p.I222_splice	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	241							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACAATATAATAGGTAAGATGA	0.433000										HNSCC(21;0.051)			5	28					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547000													5	12					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968380	87968380	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87968380G>A	ENST00000307808.6	+	3	1092	c.672G>A	c.(670-672)acG>acA	p.T224T	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.T231T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	224						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCCCGGACGCAAGGAAGCA	0.498000													6	110					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63994254	63994254	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63994254A>G	ENST00000279206.3	+	2	286	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	NUDT22_ENST00000441250.2_Missense_Mutation_p.I44V	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	44							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CATCACTGCCATCTGGGAGAC	0.697000													14	53					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	217069920	217069920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217069920A>G	ENST00000392133.3	+	23	2655	c.2194A>G	c.(2194-2196)Ata>Gta	p.I732V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I732V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	732					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGGACATGATATAGGTCGT	0.453000								Non-homologous end-joining					50	80					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800872	93800872	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93800872C>A	ENST00000315765.9	+	5	1027	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	340	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCGAGAATCCTGGGAAGTGG	0.453000													8	89					1.26484e-09	1.54084e-09	1	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103410310	103410310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410310G>A	ENST00000361246.2	-	30	4614	c.4326C>T	c.(4324-4326)agC>agT	p.S1442S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1442	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCCCATGTGGCTGAAGCAAA	0.562000													15	23					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15902255	15902255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15902255G>A	ENST00000277632.3	-	1	264	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	15					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCTGCTCTTGGTGCCCCACAC	0.622000													5	11					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152423688C>A	ENST00000427231.2	-	114	18352	c.18150G>T	c.(18148-18150)caG>caT	p.Q6050H	NEB_ENST00000409198.1_Missense_Mutation_p.Q4349H|NEB_ENST00000397345.3_Missense_Mutation_p.Q6050H|NEB_ENST00000603639.1_Missense_Mutation_p.Q6050H|NEB_ENST00000604864.1_Missense_Mutation_p.Q6050H|NEB_ENST00000172853.10_Missense_Mutation_p.Q4349H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6044					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4349Q(1)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398000													10	98					6.40141e-05	7.11719e-05	1	1	0
PCCA	5095	broad.mit.edu	37	13	101182405	101182405	+	Silent	SNP	C	C	T	rs150352833	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101182405C>T	ENST00000376285.1	+	24	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PCCA_ENST00000376286.4_Silent_p.L698L|PCCA_ENST00000376279.3_Silent_p.L677L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	724	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGGATCTGCTCGTGGAGCTGG	0.408000													9	30					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36769414	36769414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36769414C>T	ENST00000354618.5	+	12	2888	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	THRAP3_ENST00000469141.2_Silent_p.G888G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	888					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTGAAGGCGAAGGCAGTG	0.587000			T	USP6	aneurysmal bone cysts								35	50					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719792	41719792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41719792C>A	ENST00000400454.1	-	6	1492	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	339	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCAGTTCCTGTCACGCTG	0.488000													7	140					8.12818e-05	8.99451e-05	1	1	0
CD63	0	broad.mit.edu	37	12	56121015	56121015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56121015C>T	ENST00000549117.1	-	3	611	c.175G>A	c.(175-177)Gca>Aca	p.A59T	CD63_ENST00000257857.4_Missense_Mutation_p.A59T|CD63_ENST00000552692.1_Missense_Mutation_p.A59T|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.A59T|CD63_ENST00000552754.1_Missense_Mutation_p.A36T|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	59					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACACCCACTGCGATGATGACC	0.587000													34	82					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100609688	100609688	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609688G>T	ENST00000370141.2	+	9	812	c.806G>T	c.(805-807)gGt>gTt	p.G269V	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		CATCTGTGTGGTATGGCAACA	0.378000													19	49					4.96729e-08	5.9048e-08	1	1	0
STON1	11037	broad.mit.edu	37	2	48809188	48809188	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48809188G>T	ENST00000309835.3	+	1	1426	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E472D|STON1_ENST00000404752.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E472D|STON1_ENST00000406226.1_Missense_Mutation_p.E472D					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTATTATGAGAAGGACTCAG	0.358000													42	65					2.35958e-20	3.09731e-20	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184297592	184297592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184297592G>A	ENST00000330394.2	+	11	2494	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACTTCCTAAGCGAGGCCTCC	0.577000													27	24					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56391170	56391170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56391170G>A	ENST00000370754.5	-	69	18024	c.18025C>T	c.(18025-18027)Cga>Tga	p.R6009*	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.R5831*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3743*|DST_ENST00000370788.2_Nonsense_Mutation_p.R3634*|DST_ENST00000244364.6_Nonsense_Mutation_p.R3417*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5720*|DST_ENST00000446842.2_Nonsense_Mutation_p.R5505*|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5829					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGTGATCGCAGAATGGCT	0.443000													21	43					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060732	20060732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20060732G>A	ENST00000379651.3	-	7	790	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	MAP7D2_ENST00000379643.5_Missense_Mutation_p.R299W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R143W|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R213W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R206W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	258										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CGTTGCCCCCGCTTCACCTTC	0.493000													62	102					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31467908	31467908	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31467908C>A	ENST00000373747.3	-	6	979	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	PUM1_ENST00000426105.2_Missense_Mutation_p.D294Y|PUM1_ENST00000373741.4_Missense_Mutation_p.D330Y|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Missense_Mutation_p.D234Y|PUM1_ENST00000423018.2_Missense_Mutation_p.D198Y|PUM1_ENST00000440538.2_Missense_Mutation_p.D294Y|PUM1_ENST00000257075.5_Missense_Mutation_p.D294Y	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	294					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AACCTAAAATCTTTGACGTCT	0.373000													12	146					0.0809354	0.0825713	1	1	0
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160999636G>A	ENST00000447678.1	-	28	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527000													9	63					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253297	174253297	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174253297T>C	ENST00000296503.5	-	5	1437	c.564A>G	c.(562-564)gaA>gaG	p.E188E	HMGB2_ENST00000438704.2_Silent_p.E188E|HMGB2_ENST00000446922.2_Silent_p.E188E			P26583	HMGB2_HUMAN	high mobility group box 2	188	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cctcctcatcttctggttcgt	0.458000													9	91					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964255	94964255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964255G>A	ENST00000341228.2	-	3	1275	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SERPINA12_ENST00000556881.1_Silent_p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	160					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A160A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443000													31	68					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497084	152497084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152497084C>T	ENST00000427231.2	-	61	8672	c.8470G>A	c.(8470-8472)Gcc>Acc	p.A2824T	NEB_ENST00000409198.1_Missense_Mutation_p.A2824T|NEB_ENST00000397345.3_Missense_Mutation_p.A2824T|NEB_ENST00000603639.1_Missense_Mutation_p.A2824T|NEB_ENST00000604864.1_Missense_Mutation_p.A2824T|NEB_ENST00000172853.10_Missense_Mutation_p.A2824T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2824					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATCTTGGCCACGTGCATG	0.527000													111	169					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217850G>A	ENST00000258840.6	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R398C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368000													23	24					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109559	36109559	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36109559T>G	ENST00000203166.5	+	12	999	c.974T>G	c.(973-975)cTg>cGg	p.L325R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	325					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCCAGGGCCTGGTGGAGGAG	0.662000													5	44					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410781	5410781	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5410781C>A	ENST00000328611.3	+	1	175	c.153C>A	c.(151-153)atC>atA	p.I51I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGCCATCTCAGGCAATT	0.453000													7	117					0.000157383	0.00017284	1	1	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727362	25727362	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25727362G>T	ENST00000274764.2	+	1	226	c.226G>T	c.(226-228)Gcg>Tcg	p.A76S		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TGAGCGTATAGCGAGCGAGGC	0.507000													19	32					6.33239e-15	8.10486e-15	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33635017	33635017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33635017C>A	ENST00000374316.5	+	16	2723	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	ITPR3_ENST00000605930.1_Missense_Mutation_p.L555M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	555					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCGCCTGTGCTACCG	0.647000													10	17					7.48243e-07	8.70085e-07	1	1	0
MAP2K2	5605	broad.mit.edu	37	19	4110573	4110573	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4110573C>T	ENST00000262948.5	-	3	637	c.384G>A	c.(382-384)ccG>ccA	p.P128P	MAP2K2_ENST00000394867.4_Silent_p.P31P|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGATGTACGGCGAGTTGC	0.622000													19	23					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68264211	68264211	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68264211G>T	ENST00000473183.2	-	15	2610	c.2072C>A	c.(2071-2073)gCt>gAt	p.A691D	ESRP2_ENST00000565858.1_Missense_Mutation_p.A701D			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	701					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GTAGTCATCAGCGGGTAGCTA	0.577000											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	102					0.014758	0.0152625	1	1	0
PPP1R14B	26472	broad.mit.edu	37	11	64012292	64012292	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64012292G>T	ENST00000309318.3	-	4	645	c.378C>A	c.(376-378)gcC>gcA	p.A126A	PPP1R14B_ENST00000542235.1_Silent_p.A51A|PPP1R14B_ENST00000392210.2_Silent_p.A24A	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	126					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CAGAAATGAAGGCCTGGATGG	0.632000													27	47					1.39806e-14	1.78606e-14	1	1	0
RFX7	64864	broad.mit.edu	37	15	56385982	56385982	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56385982G>T	ENST00000423270.1	-	9	3943	c.3944C>A	c.(3943-3945)tCt>tAt	p.S1315Y	RFX7_ENST00000559447.2_Missense_Mutation_p.S1218Y|RFX7_ENST00000422057.1_Missense_Mutation_p.S1218Y|RFX7_ENST00000317318.6_Missense_Mutation_p.S1315Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1218					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGAGGTAAGATGGTGTTTG	0.388000													25	42					2.79863e-10	3.44159e-10	1	1	0
HSH2D	84941	broad.mit.edu	37	19	16268152	16268152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16268152C>T	ENST00000593154.2	+	8	1138	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	HSH2D_ENST00000588246.1_Missense_Mutation_p.L203F|HSH2D_ENST00000253680.6_Missense_Mutation_p.L203F|HSH2D_ENST00000397372.4_Missense_Mutation_p.L114F	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	203						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGCCAGAAACTCTGGAGGAG	0.552000													18	29					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29546951	29546951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29546951G>A	ENST00000222792.6	+	11	1629	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	CHN2_ENST00000421775.2_Missense_Mutation_p.D173N|CHN2_ENST00000424025.2_Missense_Mutation_p.D186N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.D231N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.D223N|CHN2_ENST00000495789.2_Missense_Mutation_p.D380N|CHN2_ENST00000546235.1_Missense_Mutation_p.D352N|CHN2_ENST00000539406.1_Missense_Mutation_p.D442N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	367	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CATCACATATGATACCTATTC	0.338000													4	88					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693227	33693227	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33693227G>A	ENST00000451316.1	-	6	1291	c.756C>T	c.(754-756)tgC>tgT	p.C252C	IP6K3_ENST00000293756.4_Silent_p.C252C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	252					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCTGCATGCCGCAGATGCGCA	0.667000													11	18					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16921465	16921465	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16921465G>A	ENST00000430580.2	-	0	461					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACGATTCGTTTTCTTGTA	0.363000													3	33					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430313	135430313	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135430313A>G	ENST00000394143.1	+	6	4739	c.4448A>G	c.(4447-4449)gAc>gGc	p.D1483G	GPR112_ENST00000412101.1_Missense_Mutation_p.D1278G|GPR112_ENST00000370652.1_Missense_Mutation_p.D1483G|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420G|GPR112_ENST00000394141.1_Missense_Mutation_p.D1278G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTCCGACAGGATCACT	0.438000													13	181					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481641	95481641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481641A>G	ENST00000356884.6	-	5	1353	c.1286T>C	c.(1285-1287)aTc>aCc	p.I429T	BICD2_ENST00000375512.3_Missense_Mutation_p.I429T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	429					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCCCGTTGATGTCCACCTC	0.647000													13	29					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70292106	70292106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70292106C>A	ENST00000261772.8	-	15	2150	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	669					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGGGCAATCCTGGGTATAGA	0.597000													6	2					0.217242	0.218821	1	1	0
CHD4	1108	broad.mit.edu	37	12	6702687	6702687	+	Silent	SNP	G	G	A	rs112803905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6702687G>A	ENST00000309577.6	-	16	2572	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	CHD4_ENST00000544040.1_Silent_p.V796V|CHD4_ENST00000544484.1_Silent_p.V800V|CHD4_ENST00000357008.2_Silent_p.V803V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	803	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CATAGGTTACGACATACATGT	0.527000													40	61					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161015120C>A	ENST00000447678.1	-	23	3619	c.3499G>T	c.(3499-3501)Gat>Tat	p.D1167Y	LPA_ENST00000316300.5_Missense_Mutation_p.D1167Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478000													6	61					0.0381472	0.0390147	1	1	0
ITGB7	3695	broad.mit.edu	37	12	53589427	53589427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53589427C>T	ENST00000267082.5	-	8	1285	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	ITGB7_ENST00000338737.4_Missense_Mutation_p.A352T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A352T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A352T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	352	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGGCAGTGCGGCACTGGTG	0.567000													43	58					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153719517	153719517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153719517C>A	ENST00000318967.2	+	4	971	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.L135M|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	135					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGAAGTACCTGAAGCTGCA	0.458000													35	36					3.33393e-15	4.27331e-15	1	1	0
ZNF558	148156	broad.mit.edu	37	19	8922631	8922631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8922631G>T	ENST00000601372.1	-	10	1246	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	ZNF558_ENST00000301475.1_Missense_Mutation_p.P179T|ZNF558_ENST00000444186.2_Missense_Mutation_p.P108T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCATAGGGTTTTTCTCCA	0.383000													33	34					1.74807e-11	2.18057e-11	1	1	0
TTC5	91875	broad.mit.edu	37	14	20757814	20757814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757814G>A	ENST00000258821.3	-	10	1351	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	432					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGATGCCACTGTGGCAACAGC	0.562000													3	24					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195332	18195332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18195332G>T	ENST00000314254.3	+	1	949	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAACGTCAGATTTCATCCC	0.517000													12	178					1.5842e-08	1.90059e-08	1	1	0
MKI67	4288	broad.mit.edu	37	10	129906300	129906300	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906300T>C	ENST00000368654.3	-	13	4179	c.3804A>G	c.(3802-3804)cgA>cgG	p.R1268R	MKI67_ENST00000368653.3_Silent_p.R908R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTTGGGTCGTTGCTTTG	0.502000													18	161					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74337240	74337240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74337240G>T	ENST00000565898.1	+	8	2480	c.2396G>T	c.(2395-2397)gGc>gTc	p.G799V	PML_ENST00000268058.3_Missense_Mutation_p.G847V			P29590	PML_HUMAN	promyelocytic leukemia	847					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGCTCTGGGCACCTACTTT	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""								22	50					3.28513e-13	4.1605e-13	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37117086	37117086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37117086A>G	ENST00000262879.6	+	2	295	c.11A>G	c.(10-12)gAg>gGg	p.E4G	RALGAPB_ENST00000537204.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E4G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E4G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	4					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTACTCTGAGTGGAGGTCA	0.418000													13	79					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824314	70824314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70824314C>T	ENST00000258111.4	+	3	973	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	172					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGTCCTCCTGCATTGCTTCCT	0.517000													58	87					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838834	222838834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838834G>A	ENST00000344922.5	+	28	5622	c.5597G>A	c.(5596-5598)gGt>gAt	p.G1866D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.G744D|MIA3_ENST00000344441.6_Missense_Mutation_p.G1866D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1866	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAACCCATGGTCCCCAGGAA	0.537000													17	286					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152048841	152048841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152048841C>T	ENST00000409598.4	-	19	3283	c.2116G>A	c.(2116-2118)Gta>Ata	p.V706I	SH3D19_ENST00000427414.2_Missense_Mutation_p.V670I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706I|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670I|SH3D19_ENST00000304527.4_Missense_Mutation_p.V729I|SH3D19_ENST00000409252.2_Missense_Mutation_p.V729I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	729	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCTTCGGTACTATGGCCAAC	0.358000													17	17					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78045282	78045282	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78045282G>T	ENST00000370801.3	-	10	2487	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	ZZZ3_ENST00000370798.1_Missense_Mutation_p.P177H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	671	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAGGAGGGTATTTGAT	0.373000													30	183					5.60225e-13	7.08299e-13	1	1	0
RUNX1	861	broad.mit.edu	37	21	36228737	36228737	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36228737C>T	ENST00000486278.2	-	7	764	c.549G>A	c.(547-549)ttG>ttA	p.L183L	RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000344691.4_Intron|RUNX1_ENST00000437180.1_Intron			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	353					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						gaggccaggtcaaagagTCTA	0.398000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								9	38					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110907762	110907762	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110907762G>T	ENST00000316534.4	-	12	1396	c.1323C>A	c.(1321-1323)ccC>ccA	p.P441P	NPHP1_ENST00000393272.3_Silent_p.P440P|NPHP1_ENST00000417665.1_Silent_p.P384P|NPHP1_ENST00000355301.4_Silent_p.P322P|NPHP1_ENST00000445609.2_Silent_p.P385P			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	440					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACTTACCTGGGGAGAAAAGG	0.373000													33	71					2.80507e-11	3.49135e-11	1	1	0
PHC3	80012	broad.mit.edu	37	3	169863241	169863241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863241C>T	ENST00000494943.1	-	6	674	c.606G>A	c.(604-606)tcG>tcA	p.S202S	PHC3_ENST00000467570.1_Silent_p.S161S|PHC3_ENST00000495893.1_Silent_p.S214S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	202	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGAAGATGACGATGACGACG	0.438000													10	19					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119745835	119745835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119745835G>T	ENST00000379735.5	-	3	459	c.188C>A	c.(187-189)cCt>cAt	p.P63H	SEC24D_ENST00000280551.6_Missense_Mutation_p.P63H|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	63	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGGTCCAGGAGGTGGGGGACC	0.552000													6	146					0.00116845	0.00124821	1	1	0
TFIP11	24144	broad.mit.edu	37	22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26890245C>T	ENST00000407690.1	-	14	2301	c.2018G>A	c.(2017-2019)aGc>aAc	p.S673N	TFIP11_ENST00000407148.1_Missense_Mutation_p.S673N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S673N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S673N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAATTTGGGCTGTTACTGAG	0.443000													25	36					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114997178	114997178	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114997178C>A	ENST00000334318.6	-	9	1082		c.e9-1		PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										CCCGGTGCACCTAATGGGAAA	0.378000													13	20					0.00244969	0.00259885	1	1	0
OR52W1	120787	broad.mit.edu	37	11	6221156	6221156	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221156A>G	ENST00000311352.2	+	1	781	c.703A>G	c.(703-705)Acc>Gcc	p.T235A		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTACCTACCCGGGAGGC	0.517000													19	193					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70972621	70972621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70972621C>T	ENST00000393567.2	-	44	7041	c.6891G>A	c.(6889-6891)gaG>gaA	p.E2297E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2297										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAGACGCTCCTTCTCTT	0.532000													12	23					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833163	24833163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24833163C>T	ENST00000376451.2	+	14	4273	c.4013C>T	c.(4012-4014)aCt>aTt	p.T1338I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1655I|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1655					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTTCAAGAACTGATGAAATT	0.453000													24	47					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24458474	24458474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24458474G>A	ENST00000398319.2	+	13	2067	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	CABIN1_ENST00000405822.2_Missense_Mutation_p.G511D|CABIN1_ENST00000263119.5_Missense_Mutation_p.G561D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	561					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGACCAAAGGCAGAAGCTCT	0.542000													13	25					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118514577	118514577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118514577G>T	ENST00000336338.5	-	45	6300	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2079						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGATGGGAGAAGATGGAAC	0.448000													27	31					2.44723e-14	3.12147e-14	1	1	0
DLGAP1	9229	broad.mit.edu	37	18	3582061	3582061	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3582061G>T	ENST00000315677.3	-	8	2372	c.1777C>A	c.(1777-1779)Ctg>Atg	p.L593M	DLGAP1_ENST00000400145.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.L283M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.L593M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.L301M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.L277M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.L309M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	593					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATACTGTCCAGGCTCTCGGTG	0.577000													31	26					1.39806e-14	1.78606e-14	1	1	0
PER3	8863	broad.mit.edu	37	1	7887365	7887365	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887365C>A	ENST00000377532.3	+	17	2600	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	PER3_ENST00000361923.2_Silent_p.T784T|RP3-467L1.4_ENST00000451646.1_RNA			P56645	PER3_HUMAN	period circadian clock 3	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCCGACCTTCCCACCTG	0.701000													11	21					0.00244969	0.00259885	1	1	0
ALG5	29880	broad.mit.edu	37	13	37569720	37569720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37569720G>A	ENST00000239891.3	-	2	146	c.80C>T	c.(79-81)gCa>gTa	p.A27V	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.A27V|ALG5_ENST00000413537.2_Missense_Mutation_p.A27V	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTTGTAAATGCAACGATGGA	0.343000													14	38					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534981	5534981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534981G>A	ENST00000397747.3	+	3	540	c.292G>A	c.(292-294)Gga>Aga	p.G98R	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G98R	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	98	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAGGGACGAAGGACAGTACCA	0.517000													11	25					0	0	1	0	0
LYRM5	144363	broad.mit.edu	37	12	25357176	25357176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25357176C>T	ENST00000557540.2	+	3	366	c.197C>T	c.(196-198)gCt>gTt	p.A66V	LYRM5_ENST00000556885.1_Missense_Mutation_p.A66V|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556927.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556351.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000381356.4_Missense_Mutation_p.A68V			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	66										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			GAGCTAGAAGCTTTGTACTTC	0.333000													7	62					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52337985	52337985	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52337985A>G	ENST00000296585.5	+	3	372	c.229A>G	c.(229-231)Atg>Gtg	p.M77V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	77					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAGAACCGAATGGGAGATGT	0.353000													34	65					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612000													11	12					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872275	125872275	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125872275C>T	ENST00000455064.2	-	6	768	c.345G>A	c.(343-345)cgG>cgA	p.R115R	ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393434.2_Intron			O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	0	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACCCACAGCCGTGCCCTTA	0.562000													4	41					0	0	1	0	0
WBP11P1	0	broad.mit.edu	37	18	30092242	30092242	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30092242C>T	ENST00000567636.1	+	0	617					NR_003558.1																						ACCAGATATGCCACATGCTTC	0.463000													5	8					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897599	104897599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897599A>G	ENST00000533400.1	-	8	1121	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	CASP1_ENST00000531166.1_Silent_p.C46C|CASP1_ENST00000598974.1_Silent_p.C362C|CASP1_ENST00000393136.4_Silent_p.C341C|CASP1_ENST00000525825.1_Silent_p.C341C|CASP1_ENST00000534497.1_Silent_p.C221C|CASP1_ENST00000594519.1_Silent_p.C221C|CASP1_ENST00000353247.5_Silent_p.C46C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000527979.1_Silent_p.C325C|CASP1_ENST00000593315.1_Silent_p.C341C|CASP1_ENST00000446369.1_Silent_p.C221C|CASP1_ENST00000526568.1_Silent_p.C269C|CASP1_ENST00000415981.2_Silent_p.C46C|CASP1_ENST00000436863.3_Silent_p.C362C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	362					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CATCACAGGAACAGGCATATT	0.398000													17	74					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91852280	91852280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91852280G>A	ENST00000394507.1	-	14	2050	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R375*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R423*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	423	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTATATTCGAACTTTTTCA	0.343000													17	52					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24227140	24227140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24227140C>T	ENST00000379177.1	+	10	1644	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZFX_ENST00000539115.1_Missense_Mutation_p.S177F|ZFX_ENST00000338565.3_Missense_Mutation_p.S356F|ZFX_ENST00000379188.3_Missense_Mutation_p.S406F|ZFX_ENST00000540034.1_Missense_Mutation_p.S445F|ZFX_ENST00000304543.5_Missense_Mutation_p.S406F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGACCTGATTCCAGGCAGTAC	0.532000													28	36					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134023989	134023989	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134023989G>T	ENST00000398844.2	+	11	2011	c.1723_splice	c.e11+1	p.D575_splice	SEC24A_ENST00000322887.4_Splice_Site_p.D575_splice	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	575					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATATTGAAGGTATAGATTT	0.308000													5	41					1.23904e-05	1.39987e-05	1	1	0
KYNU	8942	broad.mit.edu	37	2	143790850	143790850	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:143790850C>A	ENST00000264170.4	+	12	1259	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	KYNU_ENST00000409512.1_Missense_Mutation_p.P334H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	334					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTCAAATCCTCCCATTTTG	0.378000													9	279					2.17888e-05	2.45068e-05	1	1	0
SNX4	8723	broad.mit.edu	37	3	125170247	125170247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125170247C>T	ENST00000251775.4	-	13	1231	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	SNX4_ENST00000536067.1_Missense_Mutation_p.A258T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	403					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCAGCCCATGCGTTTTTCACA	0.358000													45	89					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452870	123452870	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123452870A>G	ENST00000360772.3	-	11	1351	c.973T>C	c.(973-975)Tgc>Cgc	p.C325R	MYLK_ENST00000346322.5_Missense_Mutation_p.C325R|MYLK_ENST00000360304.3_Missense_Mutation_p.C325R|MYLK_ENST00000359169.1_Missense_Mutation_p.C325R|MYLK_ENST00000475616.1_Missense_Mutation_p.C325R			Q15746	MYLK_HUMAN	myosin light chain kinase	325					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGTCCTTGCATGACTCCAGC	0.632000													4	59					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841666	208841666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208841666C>T	ENST00000457206.1	-	3	1682	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D419N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.D419N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	419	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAGCCATCCAGGTTGTCC	0.552000													15	16					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73811413	73811413	+	Silent	SNP	C	C	T	rs144390075	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73811413C>T	ENST00000223398.6	+	14	3057	c.2730C>T	c.(2728-2730)aaC>aaT	p.N910N	CLIP2_ENST00000361545.5_Silent_p.N875N|CLIP2_ENST00000395060.1_Silent_p.N910N	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	910						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGAGCCTGAACGAACTGCGGG	0.632000													4	84					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805573	222805573	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222805573C>A	ENST00000344922.5	+	5	3261	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P1079H|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1079					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTGCAGGTTCCTGAAGAACCC	0.483000													14	114					1.05317e-09	1.28483e-09	1	1	0
TTC6	319089	broad.mit.edu	37	14	38266099	38266099	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38266099A>C	ENST00000553443.1	+	20	3976	c.3976A>C	c.(3976-3978)Atg>Ctg	p.M1326L	TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.M57L|TTC6_ENST00000382320.3_Missense_Mutation_p.M40L|TTC6_ENST00000476979.1_Missense_Mutation_p.M57L					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TAGAGCTGAGATGACCATGTG	0.403000													6	44					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052921	90052921	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052921T>G	ENST00000405460.2	+	57	11979	c.11883T>G	c.(11881-11883)agT>agG	p.S3961R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3961					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCAGACAGTGCTGGCCTGG	0.448000													14	42					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91072448	91072448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91072448G>A	ENST00000265431.3	-	11	920	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	CALB1_ENST00000518457.1_Silent_p.L190L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	247						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTTCGGTACAGCTTCCCTCCA	0.393000													55	70					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300722	56300722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56300722C>T	ENST00000443188.1	-	10	3267	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	NLRP11_ENST00000592953.1_Missense_Mutation_p.A754T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799T|NLRP11_ENST00000589093.1_Missense_Mutation_p.A853T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAACTATGGCAATATATTGA	0.413000													36	84					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47689770	47689770	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47689770G>A	ENST00000294339.3	-	3	1023	c.446_splice	c.e3-1	p.S149_splice	TAL1_ENST00000371883.3_Silent_p.S151S|TAL1_ENST00000371884.2_Splice_Site_p.S149_splice	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	149					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAAGAACCCGCTGTGGGAGG	0.557000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								30	48					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302238	114302238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114302238C>T	ENST00000408937.3	+	15	2215	c.1841C>T	c.(1840-1842)aCa>aTa	p.T614I	FOXP2_ENST00000393494.2_Missense_Mutation_p.T589I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T404I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T606I|FOXP2_ENST00000393489.3_Missense_Mutation_p.T497I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T568I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.T589I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	589					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAAAGATAACAGGGTATGTT	0.413000													10	73					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56376782	56376782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56376782A>G	ENST00000348428.3	+	5	1080	c.822A>G	c.(820-822)ctA>ctG	p.L274L	MALT1_ENST00000345724.3_Silent_p.L274L|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	274	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAAAAAGCTATACATGGTAG	0.368000			T	BIRC3	MALT								20	27					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825811	55825811	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55825811T>C	ENST00000272313.5	-	4	989	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMEK2_ENST00000407823.3_Missense_Mutation_p.D221G|SMEK2_ENST00000345102.5_Missense_Mutation_p.D221G	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	221						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCCACGACATCCATGATACA	0.368000													4	80					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220356155	220356155	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220356155C>A	ENST00000358951.2	-	20	2233	c.2117G>T	c.(2116-2118)gGt>gTt	p.G706V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	706					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGGCAACACACCATCTTTATC	0.353000													6	77					0.0293803	0.0301098	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41000856	41000856	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41000856A>C	ENST00000399564.4	-	38	4724	c.4274T>G	c.(4273-4275)tTt>tGt	p.F1425C	MROH2B_ENST00000506092.2_Missense_Mutation_p.F980C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCAGCAAAAAAAATCTTCCA	0.458000													11	7					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393000													6	113					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39321445	39321445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39321445C>A	ENST00000373001.3	-	3	752	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	192					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATGTCCCTCTGTGTTTCTA	0.383000													28	106					4.7796e-09	5.77107e-09	1	1	0
ERN1	2081	broad.mit.edu	37	17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62125289G>A	ENST00000433197.2	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	820	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468000													17	28					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306918	162306918	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162306918A>C	ENST00000306100.5	-	16	2961	c.2525T>G	c.(2524-2526)aTt>aGt	p.I842S	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.I841S|FSTL5_ENST00000427802.2_Missense_Mutation_p.I832S|FSTL5_ENST00000379164.4_Missense_Mutation_p.I841S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	842						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCAACCCAAATGACTGTATT	0.348000													20	56					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35255925	35255925	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35255925C>A	ENST00000381318.3	+	36	4914	c.4626C>A	c.(4624-4626)atC>atA	p.I1542I	ITSN1_ENST00000381285.4_Silent_p.I1542I|ITSN1_ENST00000437442.2_Silent_p.I1481I|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.I1537I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1542	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTTCCACATCTCCCACATTG	0.517000													6	92					3.59834e-05	4.01776e-05	1	1	0
CSRNP3	80034	broad.mit.edu	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	rs150240455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166532972C>T	ENST00000314499.7	+	6	935	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493000													90	138					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338671	103338671	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103338671C>T	ENST00000267273.6	-	4	510	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	169							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATACCAGTTCTTTCACTTCA	0.423000													16	38					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23523968	23523968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23523968C>T	ENST00000397359.3	-	4	863	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CDH24_ENST00000554034.1_Missense_Mutation_p.D202N|CDH24_ENST00000487137.2_Missense_Mutation_p.D202N|CDH24_ENST00000267383.5_Missense_Mutation_p.D202N	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	202	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGGGGGTCCACAGAGAAG	0.592000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78601108	78601108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78601108C>T	ENST00000545128.1	+	3	896	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	PCSK5_ENST00000376752.4_Missense_Mutation_p.R120C|PCSK5_ENST00000376767.3_Missense_Mutation_p.R120C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	120	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGACTTCAGTCGTGCCCAGTC	0.473000													19	35					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866335	208866335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866335C>T	ENST00000457206.1	-	2	456	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S10N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S10N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	10					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAGGCTGGGCTGATATCATC	0.478000													6	123					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113960824	113960824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113960824C>T	ENST00000332556.4	+	2	280	c.86C>T	c.(85-87)gCa>gTa	p.A29V	LAMP1_ENST00000397181.3_Missense_Mutation_p.A29V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	29	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGTCAGCAGCAATGTTTATG	0.488000													45	61					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18586428	18586428	+	Missense_Mutation	SNP	C	C	T	rs141266099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18586428C>T	ENST00000399799.1	-	16	2709	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	590	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTAAAATTCGATTTCTCTC	0.403000													6	124					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89182670	89182670	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89182670C>T	ENST00000535633.1	-	4	525	c.215G>A	c.(214-216)aGa>aAa	p.R72K	NOX4_ENST00000532825.1_Missense_Mutation_p.R72K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.R72K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.R71K|NOX4_ENST00000525196.1_Missense_Mutation_p.R96K|NOX4_ENST00000413594.2_Missense_Mutation_p.R117K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.R72K|NOX4_ENST00000343727.5_Missense_Mutation_p.R72K|NOX4_ENST00000527956.1_Missense_Mutation_p.R72K|NOX4_ENST00000534731.1_Missense_Mutation_p.R96K|NOX4_ENST00000263317.4_Missense_Mutation_p.R96K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	96	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCCAACAATCTCCTGGTTCT	0.303000													18	28					0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24705324	24705324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24705324G>A	ENST00000557854.1	+	4	774	c.497G>A	c.(496-498)cGc>cAc	p.R166H	GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000456667.3_Missense_Mutation_p.R120H|GMPR2_ENST00000348719.7_Missense_Mutation_p.R148H|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000420554.2_Missense_Mutation_p.R166H|GMPR2_ENST00000399440.2_Missense_Mutation_p.R148H|GMPR2_ENST00000355299.4_Missense_Mutation_p.R148H|GMPR2_ENST00000559836.1_Missense_Mutation_p.R148H			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	148					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GTACGGAAGCGCTTCCCCCAG	0.438000													36	60					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100600	8100600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8100600G>A	ENST00000379328.3	+	3	1142	c.574G>A	c.(574-576)Gac>Aac	p.D192N	GATA3_ENST00000346208.3_Missense_Mutation_p.D192N|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	192					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCCCTGCCCGACAGCATGAA	0.682000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						21	59					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101451113	101451113	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101451113C>A	ENST00000554693.2	+	0	886				SNORD114-24_ENST00000365029.1_RNA																							ATGATCCATCCTGGATCGATG	0.353000													31	61					3.11337e-16	4.01248e-16	1	1	0
IMPACT	55364	broad.mit.edu	37	18	22020582	22020582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22020582G>T	ENST00000284202.4	+	6	631	c.490_splice	c.e6+1	p.E164_splice		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	164										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AACTCGGACAGGTATAATGTT	0.343000													7	152					2.0095e-06	2.31757e-06	1	1	0
TAAR5	9038	broad.mit.edu	37	6	132910361	132910361	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132910361G>T	ENST00000258034.2	-	1	516	c.465C>A	c.(463-465)atC>atA	p.I155I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	155					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCCTGCCAGGATGTACCTGA	0.542000													4	54					0.00909568	0.00947522	1	1	0
SYT15	83849	broad.mit.edu	37	10	46968587	46968587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46968587C>T	ENST00000374323.3	-	2	1095	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	SYT15_ENST00000374321.4_Missense_Mutation_p.G117S|SYT15_ENST00000503753.1_Missense_Mutation_p.G117S|SYT15_ENST00000374325.3_Missense_Mutation_p.G117S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	117	C2 1.					integral to membrane|plasma membrane		p.G117S(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAAGGCCGCCGCTGGAG	0.657000													4	18					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:53103889G>T	ENST00000408890.4	+	1	541	c.525G>T	c.(523-525)cgG>cgT	p.R175R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716000													5	31					0.00116845	0.00124821	1	1	0
HTT	3064	broad.mit.edu	37	4	3174046	3174046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3174046G>T	ENST00000355072.5	+	30	4009		c.e30-1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTCTACAGTGTGTTGAAG	0.383000													11	119					2.27111e-07	2.66951e-07	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63113871	63113871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113871C>T	ENST00000251157.5	-	6	671	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DOCK7_ENST00000340370.5_Missense_Mutation_p.R213Q|DOCK7_ENST00000404627.2_Missense_Mutation_p.R213Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	213					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTGGAGTTCGATCAAGTAA	0.403000													31	70					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443000													11	27					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9452542	9452542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9452542C>T	ENST00000379719.3	+	16	2015	c.1873C>T	c.(1873-1875)Cat>Tat	p.H625Y	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	625					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGAAGATCATAAAGAGGT	0.383000													24	33					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478000													5	73					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422336	49422336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422336T>C	ENST00000405315.4	+	9	1200	c.866T>C	c.(865-867)aTg>aCg	p.M289T	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.M289T|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289T	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	289	Binds to GNAI2 and GNAI3 (By similarity).					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCGGGAGATGGAGGAGGAG	0.617000													4	29					0	0	1	0	0
KDELR2	0	broad.mit.edu	37	7	6505922	6505922	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6505922G>A	ENST00000258739.4	-	4	568	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	128					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	p.S128S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGATAGCCACGGACTCCAGGT	0.542000													4	85					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499519	75499519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75499519G>T	ENST00000360639.2	+	2	1450	c.1130G>T	c.(1129-1131)aGt>aTt	p.S377I	C15orf39_ENST00000394987.4_Missense_Mutation_p.S377I|C15orf39_ENST00000567617.1_Missense_Mutation_p.S377I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	377										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACACTGAGTTTTCCTTAT	0.622000													8	142					0.000442599	0.00048047	1	1	0
SMC3	9126	broad.mit.edu	37	10	112359426	112359426	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112359426G>T	ENST00000361804.4	+	21	2409	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	761					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAGCTTACAGAGTTTGGAGG	0.353000													21	51					0.00278032	0.00294944	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123935588	123935588	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123935588C>A	ENST00000373855.1	+	41	6745	c.6485C>A	c.(6484-6486)tCt>tAt	p.S2162Y	CNTRL_ENST00000238341.5_Missense_Mutation_p.S2162Y|CNTRL_ENST00000373850.1_Missense_Mutation_p.S1610Y|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2162	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACACTTAAATCTGAGGTGAAG	0.368000													5	54					1	1	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182325	57182325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182325C>T	ENST00000504228.1	+	6	2762	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A886V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A879V			Q6ZU35	K1211_HUMAN	KIAA1211	886										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617000													10	13					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611422	56611422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56611422G>T	ENST00000407595.2	+	6	2096	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	532										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAACTTGGAGATGCTGCAGG	0.393000													6	60					8.12818e-05	8.99451e-05	1	1	0
SREBF2	6721	broad.mit.edu	37	22	42273399	42273399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42273399G>A	ENST00000361204.4	+	8	1719	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	518					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGCTCTGGCCGCAGTGTC	0.612000													19	15					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191146	11191146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:11191146A>G	ENST00000379446.5	-	5	1122	c.956T>C	c.(955-957)gTc>gCc	p.V319A	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V319A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	319					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCTCGGGGGACATCATATGC	0.577000													24	38					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894466	123894466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123894466C>T	ENST00000375024.1	+	1	747	c.747C>T	c.(745-747)tgC>tgT	p.C249C		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCTTTGCTTTTTTGTTC	0.532000													7	111					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24569430	24569430	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24569430C>T	ENST00000396973.4	+	7	1489	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000216780.4_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	0					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577000													7	17					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52084922	52084922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52084922G>A	ENST00000495880.1	-	3	1352	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P339L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	390					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGTCGCACGGGCTGCTTAG	0.572000													20	24					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423035	47423035	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47423035C>T	ENST00000361866.3	+	34	2550	c.2434_splice	c.e34-1	p.D812_splice	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	812	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTTTTACAGACAAGAAGTGTC	0.632000													9	24					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207200840	207200840	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207200840G>T	ENST00000359470.5	-	2	353	c.105_splice	c.e2+1	p.S35_splice	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	35						cytoplasm|plasma membrane	receptor activity	p.S35F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATTACGTACAGATCCAGAGCG	0.637000													6	72					5.9392e-07	6.91975e-07	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37169450	37169450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37169450G>A	ENST00000274258.7	-	34	6903	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2226S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2226S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCAAAGGAAAGCCATCA	0.423000													32	59					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113132260	113132260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113132260C>T	ENST00000401783.2	-	47	10973	c.10637G>A	c.(10636-10638)tGt>tAt	p.C3546Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.C3523Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1472Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3546	EGF-like 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTCTTACACATTTTCCACC	0.368000													8	9					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129252543	129252543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129252543C>T	ENST00000296271.3	+	5	1123	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	343					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGAGACGAGCCAGGTGGCCC	0.627000													33	32					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													11	78					4.68919e-08	5.58064e-08	1	1	0
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607000													13	34					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	381365	381365	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:381365A>G	ENST00000352684.2	+	3	425	c.8A>G	c.(7-9)aAa>aGa	p.K3R	FBXO25_ENST00000350302.3_Silent_p.E53E|FBXO25_ENST00000382824.1_Missense_Mutation_p.K3R|FBXO25_ENST00000276326.5_Silent_p.E53E	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	0	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AAGATGGAGAAATATTCAATA	0.269000													6	39					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53835325	53835325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53835325G>A	ENST00000288139.3	+	43	5459	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1761T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.A140T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1746T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1761					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCTCAATAATGCCAATATGTC	0.468000													20	30					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231837741	231837741	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231837741A>G	ENST00000439617.2	+	3	1141	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	DISC1_ENST00000537876.1_Missense_Mutation_p.D363G|DISC1_ENST00000317586.4_Intron|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.D363G|DISC1_ENST00000366636.4_Missense_Mutation_p.D363G|DISC1_ENST00000539444.1_Missense_Mutation_p.D363G|DISC1_ENST00000602281.1_Missense_Mutation_p.D363G|DISC1_ENST00000366633.3_Missense_Mutation_p.D363G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	363	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTCAGGAAGATGCAGTTGAG	0.274000													7	43					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763514	102763514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102763514C>A	ENST00000370220.1	+	2	3722	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	LZTS2_ENST00000370223.3_Missense_Mutation_p.S220Y			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	220	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTATCCGACTCTGGCCGAAAC	0.647000													9	124					0.0477658	0.0488009	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23528361	23528361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23528361C>T	ENST00000262710.1	-	19	4349	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	ACIN1_ENST00000605057.1_Missense_Mutation_p.R1283H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R583H|ACIN1_ENST00000397341.3_Missense_Mutation_p.R583H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R582H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R614H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1301H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1328H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1341	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCAGCTAGCGGCGCCCACC	0.652000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17850612	17850612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17850612C>T	ENST00000378814.5	-	8	658	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KIF13A_ENST00000259711.6_Missense_Mutation_p.R220H|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220H|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCATGGGAGCGGCTGCTTTC	0.468000													21	30					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43668133	43668133	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43668133A>G	ENST00000593152.2	-	6	1130	c.591T>C	c.(589-591)gtT>gtC	p.V197V	ATP5A1_ENST00000282050.2_Silent_p.V247V|ATP5A1_ENST00000398752.6_Silent_p.V247V|ATP5A1_ENST00000590665.1_Silent_p.V225V	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	247					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACCAATAGCAACATAAATAC	0.353000													55	88					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432170	45432170	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45432170T>C	ENST00000361462.2	+	1	729	c.546T>C	c.(544-546)ccT>ccC	p.P182P	FAM179B_ENST00000361577.3_Silent_p.P182P|FAM179B_ENST00000382233.2_Silent_p.P182P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	182							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACTTTTGCCTCAACTAGTTG	0.537000													8	95					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69637830	69637830	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69637830G>T	ENST00000374403.3	+	29	3430	c.3348G>T	c.(3346-3348)aaG>aaT	p.K1116N		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1116	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCCCACAAAGTGTCGGAACC	0.532000													23	34					1.85244e-09	2.25385e-09	1	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917784	32917784	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32917784A>T	ENST00000361627.3	+	6	1534	c.812A>T	c.(811-813)gAa>gTa	p.E271V	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E82V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	271					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAAGAAGGTGAATATGAAACT	0.423000													13	140					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831971	58831971	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831971C>A	ENST00000355431.3	+	20	3537	c.3164C>A	c.(3163-3165)tCt>tAt	p.S1055Y	ARID4A_ENST00000431317.2_Missense_Mutation_p.S1055Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1055Y|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1055Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1055					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATGTTGCCTCTGGTACCTGT	0.378000													4	79					1.23904e-05	1.39987e-05	1	1	0
CNST	163882	broad.mit.edu	37	1	246805289	246805289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246805289T>C	ENST00000366513.4	+	8	1156	c.887T>C	c.(886-888)tTa>tCa	p.L296S	CNST_ENST00000366512.3_Missense_Mutation_p.L296S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	296					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCACGCAGTTACTAGTGTCT	0.408000													6	18					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091117	52091117	+	Silent	SNP	C	C	A	rs140917490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091117C>A	ENST00000262259.2	+	5	1891	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	511					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGAAAAACCTTCACCCAAA	0.413000													15	25					1.5739e-10	1.9432e-10	1	1	0
C15orf60	283677	broad.mit.edu	37	15	73848684	73848684	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73848684G>A	ENST00000331090.6	+	5	616	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C15orf60_ENST00000560581.1_Silent_p.A168A	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	196										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGTAACAGCGGGCACAGGCG	0.463000													4	43					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172281	9172281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9172281G>T	ENST00000328194.3	-	14	2872	c.2552C>A	c.(2551-2553)tCt>tAt	p.S851Y	DENND5A_ENST00000527700.1_Missense_Mutation_p.S194Y|DENND5A_ENST00000530044.1_Missense_Mutation_p.S851Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	851	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCATCAGACTTCCTACG	0.438000													19	39					1.2644e-06	1.46818e-06	1	1	0
PDCD4	27250	broad.mit.edu	37	10	112641242	112641242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112641242T>A	ENST00000393104.2	+	4	622	c.262T>A	c.(262-264)Ttg>Atg	p.L88M	PDCD4_ENST00000280154.7_Missense_Mutation_p.L99M	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	99					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAAGGGAAGGTTGCTGGATAG	0.483000													24	43					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410721	63410721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410721G>A	ENST00000330258.3	-	2	2718	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCCATCCCGTTCCACATCA	0.502000													14	14					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183273936	183273936	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183273936C>T	ENST00000294868.4	-	0	73				NMNAT2_ENST00000287713.6_Intron	NM_170706.3	NP_733820.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGAGTAACACAAAGTGGTGC	0.488000													4	40					0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49593597	49593597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593597G>A	ENST00000221448.5	+	3	393	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R66H	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	66					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGAGAGGAGCGCATGGAGAGG	0.527000													10	35					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1980185	1980185	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1980185C>T	ENST00000255641.8	+	12	1726	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	411					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAAATCGCTGCAGCGACA	0.657000													23	29					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169105788	169105788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169105788C>T	ENST00000359299.3	+	11	1048	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	288							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CATAAGGAAACGATACAAAGA	0.363000													45	89					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844333	52844333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52844333C>A	ENST00000252252.3	-	2	659	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	204	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCTCACAGTCTTGGTGCCCT	0.577000													8	70					0.0477658	0.0488009	1	1	0
TTN	7273	broad.mit.edu	37	2	179429822	179429822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179429822G>A	ENST00000589042.1	-	326	81261	c.81037C>T	c.(81037-81039)Cga>Tga	p.R27013*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R17948*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24445*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18073*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18140*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R25372*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25372	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTATCTCGCTTCTCTACA	0.428000													42	75					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140215580	140215580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140215580C>T	ENST00000525929.1	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.682000													40	77					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841384	100841384	+	Missense_Mutation	SNP	C	C	T	rs141685162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841384C>T	ENST00000369208.3	-	11	2331	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	SIM1_ENST00000262901.4_Missense_Mutation_p.A517T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	517	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGACTGAAGCGATGTGAGGC	0.572000													32	51					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19963209	19963209	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19963209C>A	ENST00000263207.3	-	11	2251	c.1960_splice	c.e11+1	p.G654_splice	ARVCF_ENST00000406259.1_Splice_Site_p.G648_splice|ARVCF_ENST00000344269.3_Splice_Site_p.G591_splice|ARVCF_ENST00000406522.1_Splice_Site_p.G585_splice|ARVCF_ENST00000401994.1_Splice_Site_p.G591_splice	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	654					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCCCACTCACCTTTGGCGGCC	0.587000													4	35					0.00909568	0.00947522	1	1	0
FAF2	23197	broad.mit.edu	37	5	175913417	175913417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175913417C>A	ENST00000261942.6	+	3	247	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	65					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AACCCACCTCCATCACGACCC	0.493000													26	48					1.66031e-10	2.04717e-10	1	1	0
CIC	23152	broad.mit.edu	37	19	42797910	42797910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797910G>A	ENST00000572681.2	+	17	6751	c.6683G>A	c.(6682-6684)cGc>cAc	p.R2228H	CIC_ENST00000160740.3_Missense_Mutation_p.R1319H|CIC_ENST00000575354.2_Missense_Mutation_p.R1321H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCGGAGCGCAAGGAGGCG	0.687000			"""Mis, F, S"""		oligodendroglioma								21	24					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463000													29	55					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44250038	44250038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44250038G>T	ENST00000371505.4	-	4	1227	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	369										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAGACGTAGGTTGAGGGAA	0.602000													10	110					0.000673444	0.000724755	1	1	0
ATR	545	broad.mit.edu	37	3	142226890	142226890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142226890C>A	ENST00000350721.4	-	28	5035	c.4914G>T	c.(4912-4914)caG>caT	p.Q1638H	ATR_ENST00000383101.3_Missense_Mutation_p.Q1574H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1638					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAGAGTATCCTGGGGTATGA	0.363000								Other conserved DNA damage response genes					6	63					0.000157383	0.00017284	1	1	0
IGFBP5	3488	broad.mit.edu	37	2	217543716	217543716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217543716T>C	ENST00000233813.4	-	2	1173	c.424A>G	c.(424-426)Acc>Gcc	p.T142A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	142					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGATGCGGGTGTGTTTGGGC	0.602000													19	38					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117752685	117752685	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117752685G>A	ENST00000276204.6	+	31	3539	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	DOCK11_ENST00000276202.7_Silent_p.Q1155Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1155					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGATACCAGCACAAGGTAA	0.338000													17	40					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75651070	75651070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75651070G>A	ENST00000361470.2	+	1	3025	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	916	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGCCTTGCGATATGTGGCC	0.493000													16	25					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607493	15607493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15607493C>T	ENST00000281513.5	-	19	2082	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R686Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	686										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATAACTTCCGTCTACAACG	0.318000													5	58					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89989955	89989955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89989955C>T	ENST00000405460.2	+	33	7478	c.7382C>T	c.(7381-7383)cCc>cTc	p.P2461L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2461					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGGGTCCCCAGTGTTTC	0.483000													22	19					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521469	129521469	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129521469T>C	ENST00000305031.4	+	3	2992	c.2634T>C	c.(2632-2634)aaT>aaC	p.N878N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	878						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCAGGTACAATCGAACTCTCT	0.393000													26	33					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329824	152329824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152329824G>T	ENST00000388718.5	-	3	510	c.438C>A	c.(436-438)caC>caA	p.H146Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	146	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTTGAGTGCCCAGAAC	0.463000													37	201					6.33695e-27	8.44593e-27	1	1	0
CTNND1	1500	broad.mit.edu	37	11	57569568	57569568	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57569568C>T	ENST00000524630.1	+	7	1833	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	CTNND1_ENST00000530094.1_Silent_p.D339D|CTNND1_ENST00000534579.1_Silent_p.D386D|CTNND1_ENST00000528232.1_Silent_p.D339D|CTNND1_ENST00000529526.1_Silent_p.D386D|CTNND1_ENST00000428599.2_Silent_p.D440D|CTNND1_ENST00000399039.4_Silent_p.D440D|CTNND1_ENST00000399050.4_Silent_p.D440D|CTNND1_ENST00000415361.2_Silent_p.D339D|CTNND1_ENST00000529919.1_Silent_p.D440D|CTNND1_ENST00000525902.1_Silent_p.D117D|CTNND1_ENST00000529873.1_Silent_p.D386D|CTNND1_ENST00000531014.1_Silent_p.D117D|CTNND1_ENST00000358694.6_Silent_p.D440D|CTNND1_ENST00000532787.1_Silent_p.D339D|CTNND1_ENST00000426142.2_Silent_p.D339D|CTNND1_ENST00000532649.1_Silent_p.D386D|CTNND1_ENST00000532844.1_Silent_p.D386D|CTNND1_ENST00000529986.1_Silent_p.D339D|CTNND1_ENST00000361332.4_Silent_p.D440D|CTNND1_ENST00000532463.1_Silent_p.D339D|CTNND1_ENST00000528621.1_Silent_p.D386D|CTNND1_ENST00000533667.1_Silent_p.D117D|CTNND1_ENST00000526357.1_Silent_p.D386D|CTNND1_ENST00000526938.1_Silent_p.D440D|CTNND1_ENST00000361391.6_Silent_p.D440D|CTNND1_ENST00000532245.1_Silent_p.D339D|CTNND1_ENST00000361796.4_Silent_p.D440D|CTNND1_ENST00000530748.1_Silent_p.D386D|CTNND1_ENST00000360682.6_Silent_p.D440D|CTNND1_ENST00000527467.1_Silent_p.D117D|CTNND1_ENST00000526772.1_Silent_p.D117D			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	440					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGACGTGACCAGGATAACA	0.473000													72	172					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51097980	51097980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51097980G>T	ENST00000301180.5	+	20	2417	c.2383G>T	c.(2383-2385)Gga>Tga	p.G795*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	795						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCCGATCAGGATTGCTGGG	0.383000													13	87					1.5739e-10	1.9432e-10	1	1	0
SLC29A3	55315	broad.mit.edu	37	10	73115972	73115972	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73115972C>A	ENST00000373189.5	+	5	797	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	249					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGACTCTACCTGCTGCTGTC	0.552000													14	43					2.31682e-05	2.60394e-05	1	1	0
DAPK3	1613	broad.mit.edu	37	19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3959164C>T	ENST00000545797.2	-	9	1543	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	DAPK3_ENST00000301264.3_Missense_Mutation_p.V434M			O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721000													5	1					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15175059	15175059	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15175059G>T	ENST00000378165.4	-	5	675	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L186M|NMT2_ENST00000535341.1_Missense_Mutation_p.L186M|NMT2_ENST00000540259.1_Missense_Mutation_p.L11M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	199					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TACCACAACAGGAACTCGGGT	0.433000													5	63					1.23904e-05	1.39987e-05	1	1	0
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557000													13	109					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46233126	46233126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46233126C>A	ENST00000334344.6	+	11	1517	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	ARID2_ENST00000444670.1_Intron|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L300M	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTAGTGTGTCTGGTTTCTAT	0.338000			"""N, S, F"""		hepatocellular carcinoma								13	42					1.5842e-08	1.90059e-08	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047197	42047197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42047197G>A	ENST00000372584.1	-	3	4286	c.3272C>T	c.(3271-3273)gCg>gTg	p.A1091V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1091V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1091V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1091V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1091					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGAGGTGGCCGCAGAGGAAAT	0.607000													29	33					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48151344	48151344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48151344G>A	ENST00000320031.8	+	8	1551	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	ITGA3_ENST00000007722.7_Silent_p.K407K|ITGA3_ENST00000544892.1_Silent_p.K182K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	407					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTAGCTCTAAGGGGCTCCTTA	0.557000													3	38					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44189185	44189185	+	Nonsense_Mutation	SNP	C	C	T	rs140304122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44189185C>T	ENST00000291539.6	+	17	1570	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R402*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R370*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R451*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R403*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R377*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R478*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R437*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R444*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R376*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R376*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R418*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R344*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R463*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	504	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCATGGACCGAGACAAAGT	0.507000													5	58					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112621023	112621023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112621023G>A	ENST00000550722.1	-	62	10784	c.10389C>T	c.(10387-10389)aaC>aaT	p.N3463N	HECTD4_ENST00000430131.2_Silent_p.N3187N|HECTD4_ENST00000377560.5_Silent_p.N3437N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGTCATTATTGTTAAATAAAC	0.383000													58	80					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118352537	118352537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352537G>A	ENST00000534358.1	+	7	3765	c.3742G>A	c.(3742-3744)Gca>Aca	p.A1248T	KMT2A_ENST00000389506.5_Missense_Mutation_p.A1248T|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1248T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TACCCCATCAGCAAGAGAGGA	0.498000													5	59					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388602	48388602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48388602G>A	ENST00000224600.4	-	1	2389	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	759	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCCCCACGGCCTTCACTGT	0.627000													7	12					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	111983139	111983139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111983139G>A	ENST00000354650.3	-	14	2023	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FYN_ENST00000368667.2_Missense_Mutation_p.R473W|FYN_ENST00000368678.4_Missense_Mutation_p.R470W|FYN_ENST00000229470.5_Missense_Mutation_p.R421W|FYN_ENST00000356013.2_Missense_Mutation_p.R418W|FYN_ENST00000229471.4_Missense_Mutation_p.R418W|FYN_ENST00000538466.1_Missense_Mutation_p.R470W|FYN_ENST00000368682.3_Missense_Mutation_p.R470W	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	473	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCACCTCCCGGTTGTTCATG	0.602000													10	71					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37111187	37111187	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37111187C>A	ENST00000378079.2	-	5	629		c.e5-1			NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47											NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGCAGGAAACCTGTAAAGAAA	0.333000													13	28					1.49906e-05	1.69169e-05	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71426140	71426140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71426140G>A	ENST00000373657.1	-	3	2710	c.2108C>T	c.(2107-2109)aCt>aTt	p.T703I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.T826I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	826					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGAAGAGTTAGTACAAAGTTC	0.408000													6	68					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89899961	89899961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89899961G>A	ENST00000435811.1	-	5	981	c.527C>T	c.(526-528)aCa>aTa	p.T176I	GABRR1_ENST00000454853.2_Missense_Mutation_p.T193I|GABRR1_ENST00000369451.3_Missense_Mutation_p.T106I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCAGTTACTGTAACCCTAGG	0.438000													7	51					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52992099	52992099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:52992099G>T	ENST00000575882.1	+	6	951	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E165*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E193*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E200*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	200	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATTGGTCCCAGAACAGGtaac	0.383000													73	85					1.26778e-28	1.69481e-28	1	1	0
MPST	4357	broad.mit.edu	37	22	37425477	37425477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37425477C>T	ENST00000397225.2	+	3	1731	c.816C>T	c.(814-816)taC>taT	p.Y272Y	MPST_ENST00000397129.1_Silent_p.Y292Y|MPST_ENST00000429360.2_Silent_p.Y272Y|MPST_ENST00000404802.3_Silent_p.Y272Y|MPST_ENST00000341116.3_Silent_p.Y272Y|MPST_ENST00000401419.3_Silent_p.Y272Y|MPST_ENST00000404393.1_3'UTR			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	272	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TGCCCATCTACGATGGCTCCT	0.657000													12	17					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37118182	37118182	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118182C>T	ENST00000378079.2	-	3	499	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	100										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGTCAGGCAGCTCAAGGTTAT	0.383000													39	71					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10026343	10026343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10026343G>A	ENST00000378380.3	+	5	1147	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.R273Q(1)									ATAGCTCAGCGAGGTAAAATT	0.408000													7	56					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101598314	101598314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101598314A>G	ENST00000536262.2	-	2	939	c.381T>C	c.(379-381)gtT>gtC	p.V127V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	127					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAGACGAACACATTTGT	0.333000													6	50					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110348	36110348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36110348G>A	ENST00000203166.5	+	14	1227	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	401					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GAACAGGTCCGCCTGCTCATC	0.632000													18	22					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631313	140631313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:140631313C>T	ENST00000520439.1	-	2	376	c.313G>A	c.(313-315)Gcg>Acg	p.A105T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A105T			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCTTGCCCGCATCGGTGCCA	0.607000													9	17					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23596045	23596045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23596045C>T	ENST00000305877.8	+	2	2090	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	BCR_ENST00000359540.3_Missense_Mutation_p.R447C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGAGGAGCAGCGCCGGCACCA	0.627000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								23	34					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188949	98188949	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188949T>G	ENST00000332650.5	+	1	626	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCAACCACTTTTACTGTGA	0.398000													16	208					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	rs148128733	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121340550G>A	ENST00000338040.4	+	3	688	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	92					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567000													23	30					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152806914	152806914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152806914G>A	ENST00000370186.1	+	3	632	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ATP2B3_ENST00000370181.2_Silent_p.V102V|ATP2B3_ENST00000359149.3_Silent_p.V102V|ATP2B3_ENST00000393842.1_Silent_p.V102V|ATP2B3_ENST00000349466.2_Silent_p.V102V|ATP2B3_ENST00000263519.4_Silent_p.V102V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	102					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGTGTGGGAGGCCC	0.612000													17	37					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689080	74689080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689080C>T	ENST00000233616.4	-	4	1998	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	MOGS_ENST00000452063.2_Silent_p.T506T|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	612					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGCCAGCCGCGTCAGCACAC	0.657000													23	40					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490882	100490882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100490882G>A	ENST00000302913.4	-	2	1110	c.972C>T	c.(970-972)agC>agT	p.S324S	ACHE_ENST00000241069.5_Silent_p.S324S|ACHE_ENST00000419336.2_Silent_p.S324S|ACHE_ENST00000412389.1_Silent_p.S324S|ACHE_ENST00000411582.1_Silent_p.S324S|ACHE_ENST00000428317.1_Silent_p.S324S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	324					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACCGGAAGACGCTTTCTTGAG	0.602000													9	36					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10503785	10503785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503785C>T	ENST00000222005.2	-	7	1011	c.958G>A	c.(958-960)Gcc>Acc	p.A320T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	320					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.A320T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTGCTGATGGCGTCCTGCAGC	0.662000													4	44					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35351961	35351961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35351961G>T	ENST00000374748.1	-	4	462	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CUL2_ENST00000374749.3_Missense_Mutation_p.P50H|CUL2_ENST00000602371.1_Missense_Mutation_p.L8M|CUL2_ENST00000537177.1_Missense_Mutation_p.P69H|CUL2_ENST00000374746.1_Missense_Mutation_p.P50H|CUL2_ENST00000374742.1_Missense_Mutation_p.P50H|CUL2_ENST00000374751.3_Missense_Mutation_p.P50H			Q13617	CUL2_HUMAN	cullin 2	50					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGGGGTTCAGGATAGGCCAC	0.303000													5	72					0.184627	0.186383	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853330	2853330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853330C>T	ENST00000334241.4	+	4	1405	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	ZNF555_ENST00000591539.1_Missense_Mutation_p.P422S|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGAAACCCTATGAGTG	0.453000													7	15					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169863247	169863247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863247C>T	ENST00000494943.1	-	6	668	c.600G>A	c.(598-600)tcG>tcA	p.S200S	PHC3_ENST00000467570.1_Silent_p.S159S|PHC3_ENST00000495893.1_Silent_p.S212S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	200	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGACGATGACGACGAGACAA	0.438000													12	15					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84636118	84636118	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84636118C>A	ENST00000284136.6	-	16	1951	c.1908_splice	c.e16+1	p.E636_splice	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	636	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGCTTACCTCCTCTCGAT	0.373000													14	296					5.01169e-05	5.58345e-05	1	1	0
DNAJC19	131118	broad.mit.edu	37	3	180705837	180705837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180705837G>A	ENST00000382564.2	-	3	273	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	DNAJC19_ENST00000479269.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000486355.1_Nonsense_Mutation_p.Q35*|DNAJC19_ENST00000491873.1_Nonsense_Mutation_p.Q10*	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	35					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TGAAAAACTTGTTTTACTTGA	0.378000													19	40					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	438011	438011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:438011T>C	ENST00000338977.5	-	2	257	c.209A>G	c.(208-210)cAa>cGa	p.Q70R	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q82R|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGCATTACATTGAAATATTTT	0.318000													6	68					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97944811	97944811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97944811G>A	ENST00000005260.8	-	7	815	c.600C>T	c.(598-600)caC>caT	p.H200H	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	200	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCACAGTGCTTATCAA	0.408000													18	195					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29691857	29691857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29691857G>A	ENST00000261593.3	+	3	709	c.251G>A	c.(250-252)gGt>gAt	p.G84D	RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	84					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGTTTTCTGGTAGCTGCAGA	0.413000													20	31					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514703	34514703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514703C>A	ENST00000242317.4	+	18	1955	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	595					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCATACTCTTCTACTGTGTTC	0.567000									Kartagener syndrome				8	81					0.00448238	0.00472561	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36793350	36793350	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:36793350C>A	ENST00000399881.3	+	27	3399	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTCAGATACCTTTAGGTGAC	0.388000													7	89					0.00198382	0.00210581	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55161339	55161339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161339C>T	ENST00000257290.5	+	23	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S817F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1057	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCAGCAGTTCCACCTTCATC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			31	47					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837158	12837158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12837158C>A	ENST00000357726.4	+	3	895	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	290										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGTGTCTCCAGGCCCC	0.527000													63	97					7.59065e-32	1.01804e-31	1	1	0
VPS16	64601	broad.mit.edu	37	20	2843290	2843290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2843290C>T	ENST00000380445.3	+	12	1209	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Silent_p.A33A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	379					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACCCAGGCCGTGCAGCAGT	0.647000													18	28					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895295	39895295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39895295C>T	ENST00000373186.4	-	1	160	c.23G>A	c.(22-24)cGc>cAc	p.R8H	MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000432280.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000425303.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373175.4_Missense_Mutation_p.R8H|MOCS1_ENST00000340692.5_Intron	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	0	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACATCTGTGCGGAGCTTCCA	0.592000													4	9					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10781697	10781697	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10781697G>T	ENST00000449870.1	+	3	368	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ILF3_ENST00000589998.1_Missense_Mutation_p.K17N|ILF3_ENST00000588657.1_Missense_Mutation_p.K17N|ILF3_ENST00000250241.8_Missense_Mutation_p.K17N|ILF3_ENST00000318511.3_Missense_Mutation_p.K17N|ILF3_ENST00000592763.1_Missense_Mutation_p.K17N|ILF3_ENST00000420083.1_Missense_Mutation_p.K17N|ILF3_ENST00000590261.1_Missense_Mutation_p.K17N|ILF3_ENST00000407004.3_Missense_Mutation_p.K17N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	17					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGATGGCAAAGCATTCTTCCG	0.488000													5	15					2.0095e-06	2.31757e-06	1	1	0
CD55	1604	broad.mit.edu	37	1	207499017	207499017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207499017C>T	ENST00000367064.3	+	4	787	c.529C>T	c.(529-531)Cca>Tca	p.P177S	CD55_ENST00000367063.2_Missense_Mutation_p.P177S|CD55_ENST00000367065.5_Missense_Mutation_p.P177S|CD55_ENST00000391921.4_Missense_Mutation_p.P113S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.P177S|CD55_ENST00000391920.4_Missense_Mutation_p.P177S|CD55_ENST00000314754.8_Missense_Mutation_p.P177S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	177	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GATTGATGTACCAGGTGGCAT	0.343000													20	101					0	0	1	0	0
TMEM106A	113277	broad.mit.edu	37	17	41367929	41367929	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41367929T>C	ENST00000331615.3	+	5	635	c.398T>C	c.(397-399)tTt>tCt	p.F133S	TMEM106A_ENST00000588659.1_Missense_Mutation_p.F133S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.F85S|TMEM106A_ENST00000536052.1_Missense_Mutation_p.F133S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	133						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		ACAGTGGCCTTTGATGAGGCT	0.542000													5	189					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004302	42004302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004302C>A	ENST00000395925.3	-	15	4453	c.4369G>T	c.(4369-4371)Gct>Tct	p.A1457S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1457					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGAACCAGCTTTCGTGTCT	0.517000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	48					3.41278e-10	4.19267e-10	1	1	0
CYFIP1	23191	broad.mit.edu	37	15	22940758	22940758	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22940758T>C	ENST00000313077.7	+	11	1148	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	CYFIP1_ENST00000560848.1_Silent_p.P341P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	341					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCCCTCAGTACAACA	0.642000													6	10					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819737	110819737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110819737C>T	ENST00000282356.4	+	11	1393	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A332V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	332	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCGGTGAAGGCTGTGGTGGCC	0.557000													19	30					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75549186	75549186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75549186C>A	ENST00000604729.1	+	4	816	c.519C>A	c.(517-519)aaC>aaA	p.N173K	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N173K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.N173K					zinc finger, SWIM-type containing 8																		GGGCCTACAACGTGGCTGTGA	0.607000													3	12					1	1	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86355288	86355288	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86355288C>A	ENST00000370571.2	-	32	3297	c.2931G>T	c.(2929-2931)caG>caT	p.Q977H	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q977H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	977	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCAATCCCTGTAAACCCT	0.383000													12	125					3.27435e-08	3.90559e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152718083	152718083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152718083G>A	ENST00000367255.5	-	50	7984	c.7383C>T	c.(7381-7383)agC>agT	p.S2461S	SYNE1_ENST00000341594.5_Silent_p.S2500S|SYNE1_ENST00000265368.4_Silent_p.S2461S|SYNE1_ENST00000448038.1_Silent_p.S2468S|SYNE1_ENST00000423061.1_Silent_p.S2468S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCAAGTTTGCTCTGCCCAT	0.383000										HNSCC(10;0.0054)			32	69					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116750643	116750643	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116750643C>T	ENST00000288466.7	+	3	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	ZNF618_ENST00000374126.5_Silent_p.G40G	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGGAGGGCCCAGAGCCAG	0.587000													13	16					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749164	51749164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749164C>A	ENST00000395052.3	+	4	1609	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	GRM2_ENST00000442933.2_Missense_Mutation_p.L459M|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	459					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTTCACCTATCTGCGTGCAGG	0.597000													14	21					2.35188e-11	2.93101e-11	1	1	0
YWHAZ	7534	broad.mit.edu	37	8	101936203	101936203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101936203A>C	ENST00000395957.2	-	6	999	c.658T>G	c.(658-660)Tta>Gta	p.L220V	YWHAZ_ENST00000522819.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395948.2_Missense_Mutation_p.L143V|YWHAZ_ENST00000395956.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000521309.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000353245.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000457309.1_Missense_Mutation_p.L220V|YWHAZ_ENST00000395951.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000419477.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000522542.1_Missense_Mutation_p.L145V|YWHAZ_ENST00000395958.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395953.2_Missense_Mutation_p.L220V			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	220					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TCTCTCAGTAATTGCATTATT	0.323000													57	74					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914444	145914444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145914444C>T	ENST00000354952.2	-	7	1001	c.761G>A	c.(760-762)gGc>gAc	p.G254D	PLSCR4_ENST00000493382.1_Missense_Mutation_p.G254D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G164D|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G149D|PLSCR4_ENST00000446574.2_Missense_Mutation_p.G254D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	254					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGAACCACAGCCATAGGTTGA	0.403000													40	59					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811176	45811176	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45811176A>G	ENST00000397928.1	+	11	1907	c.1462A>G	c.(1462-1464)Atg>Gtg	p.M488V	TRPM2_ENST00000300482.5_Missense_Mutation_p.M488V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.M488V|TRPM2_ENST00000397932.2_Missense_Mutation_p.M488V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	488						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACCCCACGATGACAGCTGC	0.527000													4	62					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140905645	140905645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140905645C>A	ENST00000253811.6	-	26	3677	c.3537G>T	c.(3535-3537)gaG>gaT	p.E1179D	DIAPH1_ENST00000389054.3_Missense_Mutation_p.E1175D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E1170D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E1166D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E1154D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E1121D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E1178D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E1169D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1178					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTGCTTCTCTAGCCGCT	0.522000													6	118					0.27861	0.279982	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67130869	67130869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67130869C>A	ENST00000284425.2	-	5	649	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	159					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCACCATATCCATCCCAGCAA	0.378000													6	55					0.217242	0.218821	1	1	0
MARK2	2011	broad.mit.edu	37	11	63676648	63676648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63676648C>T	ENST00000402010.2	+	19	2885	c.2306C>T	c.(2305-2307)tCg>tTg	p.S769L	MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	769	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S726L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCGGATATCGGGCACCTCC	0.612000													6	74					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804430	220804430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220804430G>A	ENST00000402574.1	+	10	1560	c.558G>A	c.(556-558)aaG>aaA	p.K186K	MARK1_ENST00000366917.4_Silent_p.K321K|MARK1_ENST00000366918.4_Silent_p.K299K	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	321	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAACTAAAGCCATATACTG	0.378000													25	59					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60527781	60527781	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60527781C>A	ENST00000400316.4	+	4	2258	c.477C>A	c.(475-477)ttC>ttA	p.F159L	PHLPP1_ENST00000262719.5_Missense_Mutation_p.F671L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	671					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AACAAAACTTCCTAAGGCAGA	0.502000													4	21					0.00024832	0.0002712	1	1	0
UTRN	7402	broad.mit.edu	37	6	145142120	145142120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:145142120G>A	ENST00000367545.3	+	65	9460	c.9460G>A	c.(9460-9462)Gtc>Atc	p.V3154I	UTRN_ENST00000367526.4_Missense_Mutation_p.V709I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3154	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTACCTGCCTGTCCAGACAGT	0.373000													11	62					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100196	7100196	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7100196C>T	ENST00000399510.2	-	11	1944	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	DLG4_ENST00000399506.2_Silent_p.T321T|DLG4_ENST00000302955.6_Silent_p.T318T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	321	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGCCCAGGCCCGTGGAGCCCC	0.642000													7	14					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560997	44560997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44560997G>A	ENST00000332567.4	-	1	991	c.639C>T	c.(637-639)ggC>ggT	p.G213G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	213					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGGGTTGGCCCTGGCAGC	0.672000													12	26					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788617	65788617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65788617G>A	ENST00000312106.5	-	5	1868	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	577					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAGGACTGGCCCAGGGTCC	0.647000													6	11					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100321	72100321	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72100321T>A	ENST00000355790.4	-	3	697	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	LRRC20_ENST00000395010.1_Missense_Mutation_p.S74C|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.S74C|LRRC20_ENST00000395011.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	74										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CGGAGCTGACTGAATGTGGTC	0.582000													17	27					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247053278	247053278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247053278G>A	ENST00000366508.1	-	17	2375	c.2239C>T	c.(2239-2241)Cgt>Tgt	p.R747C	AHCTF1_ENST00000391829.2_Missense_Mutation_p.R712C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R721C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	712	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGATAAACGCTCAAACTTC	0.338000													67	86					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44290430	44290430	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44290430T>G	ENST00000262915.3	+	5	459	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.V63V|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361392.4_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000361746.4_Silent_p.V94V|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372372.2_Silent_p.V63V|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.V79V|ST3GAL3_ENST00000372368.2_Silent_p.V79V	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	76				L -> S (in Ref. 3; AAO38810).	protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAcggtggtttttggccttg	0.458000													25	48					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448000													3	56					0	0	1	0	0
KLHL4	0	broad.mit.edu	37	X	86890607	86890607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:86890607C>T	ENST00000373119.4	+	9	1902	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	KLHL4_ENST00000373114.4_Missense_Mutation_p.S586L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCCTCAAATCAATGGAATAC	0.398000													17	23					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	270254	270254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:270254G>A	ENST00000360321.2	-	3	271	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	C20orf96_ENST00000382369.5_Intron|C20orf96_ENST00000400269.3_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	45										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGTTGGCTTGTTGGACTGGA	0.502000													44	57					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990794	63990794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990794G>A	ENST00000279227.5	+	15	1929	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E608K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	612					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592000													51	116					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172535773	172535773	+	Nonsense_Mutation	SNP	C	C	T	rs142630557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172535773C>T	ENST00000540014.1	+	5	1688	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CREBRF_ENST00000296953.2_Nonsense_Mutation_p.R457*			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	457							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TGAGTGGAACCGAGATACTTT	0.403000													36	68					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37152312	37152312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37152312C>T	ENST00000263918.4	-	2	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	STRN_ENST00000379213.2_Missense_Mutation_p.E80K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	92					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCAAATTTTCTTGGCCCTTC	0.373000													4	78					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177094487	177094487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177094487G>A	ENST00000393643.2	+	26	3611	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	WDR17_ENST00000508596.1_Missense_Mutation_p.R1105H|WDR17_ENST00000280190.4_Missense_Mutation_p.R1144H|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333000													12	30					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768488	77768488	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77768488G>A	ENST00000269385.4	-	5	1233	c.1116C>T	c.(1114-1116)acC>acT	p.T372T		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	372					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAATGGTGACGGTCAAAAAGT	0.542000													4	157					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626519	48626519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48626519G>A	ENST00000006658.6	+	6	752	c.632G>A	c.(631-633)cGc>cAc	p.R211H	SPATA20_ENST00000393244.3_Missense_Mutation_p.R151H|SPATA20_ENST00000356488.4_Missense_Mutation_p.R195H|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	195					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTCGGCTTCCGCACAGTGTTG	0.622000													28	33					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36749446	36749446	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36749446C>A	ENST00000280527.2	+	13	2785	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	806	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGTGTTGTCCCTACTGCATAG	0.413000													8	71					0.000157383	0.00017284	1	1	0
UBE2U	148581	broad.mit.edu	37	1	64671402	64671402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64671402G>T	ENST00000371077.4	+	2	571	c.148_splice	c.e2+1	p.Q49_splice	UBE2U_ENST00000371076.3_Splice_Site_p.Q49_splice			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	49							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGTTTGGCAGGGTTTGTATT	0.313000													5	51					0.00116845	0.00124821	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537000													32	45					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665995	19665995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19665995C>T	ENST00000328041.6	+	12	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	438						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCATTCGACACCCCCT	0.468000													30	49					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100183511	100183511	+	Splice_Site	SNP	G	G	A	rs147748659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100183511G>A	ENST00000325103.6	-	15	1764	c.1532_splice	c.e15+1	p.R511_splice	HPS1_ENST00000361490.4_Splice_Site_p.R511_splice|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	511					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGCACTTACCGCATGAGCCTC	0.672000									Hermansky-Pudlak syndrome				21	37					0	0	1	0	0
ADM5	199800	broad.mit.edu	37	19	50193108	50193108	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50193108T>A	ENST00000420022.3	+	1	1188	c.14T>A	c.(13-15)aTc>aAc	p.I5N	CTB-33G10.6_ENST00000596472.1_RNA	NM_001101340.1	NP_001094810.1			adrenomedullin 5 (putative)																		ACTATCCACATCCTCATCCTG	0.682000											OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	44					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170489682	170489682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170489682C>A	ENST00000260970.3	+	12	1162	c.942C>A	c.(940-942)aaC>aaA	p.N314K	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.N299K|PPIG_ENST00000462903.1_Missense_Mutation_p.N314K|PPIG_ENST00000448752.2_Missense_Mutation_p.N314K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	314					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCCACCTAACTCCCAGCCTG	0.393000													16	38					1.33834e-09	1.62941e-09	1	1	0
GBP6	163351	broad.mit.edu	37	1	89848258	89848258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89848258G>A	ENST00000370456.4	+	8	1281	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	GBP6_ENST00000535065.1_Silent_p.L266L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	396							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCTTGCTGCAGAATGAAG	0.418000													7	159					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74451985	74451985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74451985C>T	ENST00000339953.5	-	3	549	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	143	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCGTTGCGAGCACACTC	0.627000													9	17					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382050	3382050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3382050C>T	ENST00000589123.1	+	2	464	c.344C>T	c.(343-345)gCg>gTg	p.A115V	NFIC_ENST00000443272.2_Missense_Mutation_p.A124V|NFIC_ENST00000346156.5_Missense_Mutation_p.A115V|NFIC_ENST00000341919.3_Missense_Mutation_p.A124V|NFIC_ENST00000590282.1_Missense_Mutation_p.A124V|NFIC_ENST00000395111.3_Missense_Mutation_p.A115V|NFIC_ENST00000586919.1_Missense_Mutation_p.A115V	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	124					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCCGGCAGGCGGACAAGGTG	0.662000													44	63					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12762982	12762982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12762982C>T	ENST00000456935.2	-	16	2071	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	MAN2B1_ENST00000221363.4_Silent_p.Q676Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	677					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGGTGGATCTGAGCCCAGC	0.557000													18	45					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32793451	32793451	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32793451A>C	ENST00000427716.2	+	17	2709	c.2285A>C	c.(2284-2286)aAa>aCa	p.K762T	FGD4_ENST00000546442.1_Missense_Mutation_p.K669T|FGD4_ENST00000534526.2_Missense_Mutation_p.K899T|FGD4_ENST00000531134.1_Missense_Mutation_p.K847T|FGD4_ENST00000525053.1_Missense_Mutation_p.K874T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	762					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAACCTAAGAAAAAATCAGAA	0.488000													4	42					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904319	73904319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73904319G>A	ENST00000342056.2	+	15	2436	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.V661M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	661					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCAAAGCCCTGTGGATAGCAA	0.502000													7	66					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13063631	13063631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13063631C>A	ENST00000586534.1	+	8	1003	c.942C>A	c.(940-942)atC>atA	p.I314I	RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000316856.3_Silent_p.I313I|RAD23A_ENST00000541222.1_Silent_p.I149I			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	314					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGAACTACATCCAGGTGACGC	0.622000								Nucleotide excision repair (NER)					16	29					2.32078e-09	2.82054e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179606396	179606396	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606396A>C	ENST00000589042.1	-	48	11788	c.11564T>G	c.(11563-11565)tTt>tGt	p.F3855C	TTN_ENST00000460472.2_Missense_Mutation_p.F3492C|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.F3617C|TTN_ENST00000342175.6_Missense_Mutation_p.F3684C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F3538C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCATTAAAGAACCACTG	0.413000													34	58					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831672	36831672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36831672G>A	ENST00000270001.7	-	5	1171	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGTTGTTGGCATATTCTAA	0.393000													30	46					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149619269	149619269	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149619269T>C	ENST00000398376.3	-	14	1018	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	CAMK2A_ENST00000348628.6_Intron|CAMK2A_ENST00000351010.6_Intron			Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	328					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCACCATTAACTGAACG	0.562000													14	18					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914982	23914982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23914982C>T	ENST00000382298.3	-	10	3621	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	SACS_ENST00000382292.3_Silent_p.Q1011Q|SACS_ENST00000402364.1_Silent_p.Q261Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1011					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACATAAGCTGTGTTACCT	0.328000													55	79					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70969450	70969450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70969450G>A	ENST00000322954.6	-	12	1214	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	UACA_ENST00000539319.1_Silent_p.S234S|UACA_ENST00000379983.2_Silent_p.S330S|UACA_ENST00000560441.1_Silent_p.S330S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	343						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACCCTACCTCGCTTTCCAGAT	0.303000													33	43					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350230	134350230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350230C>A	ENST00000275230.5	-	2	888	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	245						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCAGTTGTATCTGAGAGTGCT	0.443000													25	56					1.16021e-09	1.41486e-09	1	1	0
YIPF6	286451	broad.mit.edu	37	X	67731767	67731767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67731767G>A	ENST00000462683.1	+	2	878	c.134G>A	c.(133-135)cGc>cAc	p.R45H	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	45						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						ATGAGATCTCGCATCCGGGAG	0.423000													48	92					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56536281	56536281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56536281G>A	ENST00000323777.3	-	5	1677	c.1568C>T	c.(1567-1569)aCc>aTc	p.T523I		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	523						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGTGAACTGGTCTGGCATTT	0.398000													8	202					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785424	52785424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52785424G>T	ENST00000439461.1	+	2	122	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	ZNF766_ENST00000593612.1_Missense_Mutation_p.D42Y|ZNF766_ENST00000600821.1_Missense_Mutation_p.D22Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.D42Y|ZNF766_ENST00000599581.1_Missense_Mutation_p.D27Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAATGCCTGGACCCTGTGCA	0.488000													18	149					9.16793e-09	1.10245e-08	1	1	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003220	23003220	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23003220G>T	ENST00000312584.3	-	5	791	c.697C>A	c.(697-699)Cgg>Agg	p.R233R		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	233					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AATTTCTTCCGACATGAAAAG	0.517000													23	25					1.10513e-12	1.39297e-12	1	1	0
CDS2	8760	broad.mit.edu	37	20	5159552	5159552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159552G>A	ENST00000460006.1	+	5	786	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CDS2_ENST00000379062.4_Missense_Mutation_p.R40Q|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	160					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCTTTGCGGATTCTCAGT	0.393000													42	79					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44441973	44441973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44441973C>A	ENST00000342649.4	+	9	1439	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	TCAIM_ENST00000417237.1_Missense_Mutation_p.L338I	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		AGTATTGACACTTGAAGAATA	0.343000													9	77					0.00448238	0.00472561	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17794856	17794856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17794856C>T	ENST00000378814.5	-	24	3021	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	KIF13A_ENST00000259711.6_Missense_Mutation_p.E1008K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1008K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1008K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1008					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGAAGTTCCACTGCAGCA	0.388000													10	17					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804047	21804047	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804047T>C	ENST00000449193.2	-	4	4957	c.2705A>G	c.(2704-2706)aAa>aGa	p.K902R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K823R	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TTTCCTGAATTTGTGACTAGG	0.388000													4	23					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140552833	140552833	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140552833C>A	ENST00000231137.3	+	1	591	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		139	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGATTTCCTTGAAAATAT	0.428000													32	44					6.97489e-18	9.07097e-18	1	1	0
MKNK1	8569	broad.mit.edu	37	1	47030791	47030791	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47030791G>T	ENST00000371946.4	-	10	853	c.690C>A	c.(688-690)atC>atA	p.I230I	MKNK1_ENST00000341183.5_Silent_p.I189I|MKNK1_ENST00000428112.2_Silent_p.I189I|MKNK1_ENST00000371944.4_Silent_p.I94I|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Silent_p.I189I	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	230	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAAAGTCACAGATTTTCACTG	0.512000													26	139					7.76418e-22	1.02329e-21	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112424426	112424426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112424426G>A	ENST00000312814.5	-	2	1015	c.455C>T	c.(454-456)aCt>aTt	p.T152I	TMEM168_ENST00000454074.1_Missense_Mutation_p.T152I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	152						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTAGTAAAGTGGGCCGATG	0.408000													8	82					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264467	65264467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65264467G>T	ENST00000389722.3	-	9	1215	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	SPTB_ENST00000556626.1_Missense_Mutation_p.L388I|SPTB_ENST00000542895.1_Missense_Mutation_p.L388I|SPTB_ENST00000389720.3_Missense_Mutation_p.L388I|SPTB_ENST00000389721.5_Missense_Mutation_p.L388I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	388					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGACACTAGTTTCCCATCG	0.453000													9	109					1.12685e-05	1.27857e-05	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212543838	212543838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212543838G>T	ENST00000342788.4	-	13	1871	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L521M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L521M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	521	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGACACGACAGACATTGGTCT	0.498000										TSP Lung(8;0.080)			5	26					1.23904e-05	1.39987e-05	1	1	0
ARVCF	421	broad.mit.edu	37	22	19960456	19960456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19960456G>A	ENST00000263207.3	-	15	2833	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	ARVCF_ENST00000406259.1_Missense_Mutation_p.R842C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R785C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R779C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R785C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	848					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCTGGAAGCGCGCCTTGGTC	0.567000													14	95					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039292	47039292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47039292C>T	ENST00000377604.3	+	10	1657	c.915C>T	c.(913-915)cgC>cgT	p.R305R	RBM10_ENST00000345781.6_Silent_p.R228R|RBM10_ENST00000329236.7_Silent_p.R228R|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	305	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATTTTGCGCAACCTGAACC	0.602000													6	5					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132491285	132491285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132491285G>A	ENST00000333577.4	+	16	3384	c.3275G>A	c.(3274-3276)aGa>aAa	p.R1092K	EP400_ENST00000332482.4_Missense_Mutation_p.R1019K|EP400_ENST00000389561.2_Missense_Mutation_p.R1056K|EP400_ENST00000389562.2_Missense_Mutation_p.R1055K|EP400_ENST00000330386.6_Missense_Mutation_p.R1056K			Q96L91	EP400_HUMAN	E1A binding protein p400	1092	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGGCTCTCAGAGATTATCAG	0.428000													27	36					0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24376858	24376858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24376858G>A	ENST00000248935.5	-	4	544	c.492C>T	c.(490-492)tcC>tcT	p.S164S	GSTT1_ENST00000439996.2_Silent_p.S46S	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	164	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGTCAGCTAAGGAGATGTGAG	0.577000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				16	3					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140431571	140431571	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140431571G>A	ENST00000306549.3	+	1	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACACCCTGAGTGCCAATG	0.562000													6	37					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967899	58967899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967899C>T	ENST00000391696.1	+	3	2490	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	ZNF324B_ENST00000336614.4_Missense_Mutation_p.R530C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R530C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGGAAGGTGCGCCGGGGAGG	0.607000													21	26					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119307642	119307642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119307642G>T	ENST00000553456.3	+	3	1482	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.R158I	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAGGCTCAGATTCGCAACA	0.488000													9	12					2.80697e-09	3.39963e-09	1	1	0
RBM41	55285	broad.mit.edu	37	X	106310818	106310818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310818A>G	ENST00000372487.1	-	7	1207	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	RBM41_ENST00000372479.3_Missense_Mutation_p.L394P	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	394							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						AGTCGCTTGGAGATTTGACCG	0.383000													7	262					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71447271	71447271	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71447271G>T	ENST00000355327.3	+	3	233	c.99_splice	c.e3+1	p.K33_splice	RP11-673C5.2_ENST00000561571.1_RNA|THSD4_ENST00000261862.6_Splice_Site_p.K33_splice			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	33						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACACAGGAAGGTAAGCCATG	0.527000													20	31					2.32416e-17	3.01417e-17	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109812366	109812366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109812366G>A	ENST00000271332.3	+	22	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2344	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632000													76	61					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135974142	135974142	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135974142C>T	ENST00000393160.3	-	18	2765	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	RALGDS_ENST00000393157.3_Silent_p.K858K|RALGDS_ENST00000372062.3_Silent_p.K830K|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.K847K|RALGDS_ENST00000372050.3_Silent_p.K859K|RALGDS_ENST00000542690.1_Silent_p.K930K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	859	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTCAGGGATCTTCAGCTCTG	0.562000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	36					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145552302	145552302	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145552302T>C	ENST00000510191.1	-	0	171				LARS_ENST00000545646.1_Missense_Mutation_p.Y54C|LARS_ENST00000274562.9_Missense_Mutation_p.Y54C|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000394434.2_Missense_Mutation_p.Y54C			Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCATTCATATATGGATATGG	0.348000													7	45					0	0	1	0	0
MIR450A2	0	broad.mit.edu	37	X	133674608	133674608	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133674608T>C	ENST00000385022.1	-	0	29					NR_030227.1																						TAGGAACACATCGCAAAAATA	0.318000													4	77					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113633583	113633583	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113633583G>A	ENST00000416617.2	-	5	1337	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	IQCD_ENST00000299732.2_Missense_Mutation_p.R281W			Q96DY2	IQCD_HUMAN	IQ motif containing D	383										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTGATCTCCCGCTCTTCCCGG	0.597000													36	51					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31367254	31367254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31367254G>A	ENST00000268296.4	+	2	199	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ITGAX_ENST00000562522.1_Silent_p.E26E|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	26					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACACAGAGGAGCTGACAGCCT	0.577000													98	134					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376235	200376235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376235C>T	ENST00000294740.2	-	2	2723	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	ZNF281_ENST00000367353.1_Missense_Mutation_p.D867N|ZNF281_ENST00000367352.3_Missense_Mutation_p.D831N	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	867					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGAGAAATCTGACACTGAA	0.443000													45	90					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390913	107390913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390913C>T	ENST00000429433.2	-	5	2131	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	BEND3_ENST00000369042.1_Silent_p.P494P	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	494										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCATCACGCGGGGGGTCGC	0.672000													6	25					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965517	22965517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965517G>A	ENST00000374642.3	+	3	559	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	C1QA_ENST00000402322.1_Missense_Mutation_p.A119T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	119	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTCTCCGCCATTCGGCG	0.637000													9	8					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58379786	58379786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58379786G>A	ENST00000316059.6	+	7	1064	c.893G>A	c.(892-894)cGt>cAt	p.R298H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R298H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	298					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAAAGTCCACGTTTACCCAAA	0.398000													9	27					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95577792	95577792	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95577792G>A	ENST00000526495.1	-	16	2409	c.2116_splice	c.e16-1	p.G706_splice	DICER1_ENST00000527414.1_Splice_Site_p.G706_splice|DICER1_ENST00000541352.1_Splice_Site_p.G706_splice|DICER1_ENST00000343455.3_Splice_Site_p.G706_splice|DICER1_ENST00000393063.1_Splice_Site_p.G706_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	706	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATCCAGTTCGCCTAACAAAT	0.368000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				47	69					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823149	12823149	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12823149G>A	ENST00000379672.5	+	6	764		c.e6+1		ARHGAP44_ENST00000262444.9_Splice_Site|ARHGAP44_ENST00000340825.3_Splice_Site	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CACGAACCAGGTAGAATCTCT	0.403000													6	11					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5700881	5700881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700881G>A	ENST00000360614.3	-	9	1582	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	LONP1_ENST00000590729.1_Silent_p.N345N|LONP1_ENST00000585374.1_Silent_p.N361N|LONP1_ENST00000593119.1_Silent_p.N411N|LONP1_ENST00000540670.2_Silent_p.N279N	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	475					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGGTTCTCGTTGCTGTACT	0.607000													39	70					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836002	82836002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82836002A>G	ENST00000265077.3	+	8	7745	c.7180A>G	c.(7180-7182)Aca>Gca	p.T2394A	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1407A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2394	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTAACGAAACAACAACCTC	0.383000													11	38					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866313	208866313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866313C>A	ENST00000457206.1	-	2	478	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E17D|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.E17D			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	17					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATTCCTCCGTAACTT	0.498000													7	119					5.18039e-06	5.91835e-06	1	1	0
TRIM16	10626	broad.mit.edu	37	17	15532148	15532148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532148G>A	ENST00000578237.1	-	11	2331	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.F362F|TRIM16_ENST00000336708.7_Silent_p.F492F|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.F276F					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CGAGCCTCCGGAAAGGGCCAG	0.532000													19	32					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19426999	19426999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19426999G>A	ENST00000261537.6	+	16	2570	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	769					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGAGCATTCGAAATAAGAAG	0.453000													20	30					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773181	51773181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51773181C>T	ENST00000543196.2	-	2	590	c.385G>A	c.(385-387)Gag>Aag	p.E129K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E129K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	129					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGGTCTCCAGGGGGGTC	0.587000													37	46					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61196686	61196686	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61196686T>C	ENST00000340437.4	-	2	231	c.151A>G	c.(151-153)Att>Gtt	p.I51V	CPSF7_ENST00000448745.1_Missense_Mutation_p.I8V|CPSF7_ENST00000439958.3_Missense_Mutation_p.I8V|CPSF7_ENST00000541963.1_Missense_Mutation_p.I8V|CPSF7_ENST00000394888.4_Missense_Mutation_p.I8V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	8	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATATATCAATCAAGTCCACT	0.478000													70	85					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844828	47844828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47844828G>A	ENST00000595464.1	+	2	990	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	C5AR2_ENST00000600626.1_Missense_Mutation_p.V258M|C5AR2_ENST00000257267.2_Missense_Mutation_p.V258M	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GGTGCTCACTGTGGCGGCCCC	0.677000													25	28					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983118	58983118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983118C>T	ENST00000536459.2	+	4	1968	c.1259C>T	c.(1258-1260)aCa>aTa	p.T420I	ZNF324_ENST00000535298.1_Missense_Mutation_p.T197I|ZNF324_ENST00000196482.3_Missense_Mutation_p.T420I			O75467	Z324A_HUMAN	zinc finger protein 324	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGTGCACACAGGCGAGAAG	0.672000													4	37					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149677	18149677	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18149677C>T	ENST00000375406.1	+	2	390	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	58						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCGACATTTGCCATCCTGACA	0.582000													26	57					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876185	10876185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10876185G>A	ENST00000379491.4	-	4	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	174					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463000													45	71					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967882	58967882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967882G>A	ENST00000391696.1	+	3	2473	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	ZNF324B_ENST00000336614.4_Missense_Mutation_p.G524E|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G524E			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCTTCAGGGACATCATCGG	0.632000													22	35					0	0	1	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184302	104184302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104184302G>A	ENST00000369937.4	-	4	379	c.234C>T	c.(232-234)gaC>gaT	p.D78D		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	78						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTGCATCATGTCCCCTATTG	0.582000													49	82					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63870168	63870168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63870168G>A	ENST00000371108.4	+	5	607	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ALG6_ENST00000263440.4_Missense_Mutation_p.R101H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	101					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACATCACGTGGATATGAG	0.348000													7	88					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846149	230846149	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230846149C>A	ENST00000366667.4	-	2	662	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	150					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGTCCAAGGCTCCCAGATAG	0.592000													52	60					3.76997e-23	4.98813e-23	1	1	0
TTN	7273	broad.mit.edu	37	2	179577432	179577432	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179577432T>C	ENST00000589042.1	-	94	27544	c.27320A>G	c.(27319-27321)tAc>tGc	p.Y9107C	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Y7863C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y8790C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8790	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTATGTAGAGATGTGT	0.338000													31	44					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795843	96795843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96795843G>T	ENST00000359933.4	-	12	2752	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	620										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAGGAACAGAATGAAAATC	0.313000													7	70					0.00198382	0.00210581	1	1	0
ASPA	443	broad.mit.edu	37	17	3379573	3379573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3379573G>T	ENST00000263080.2	+	1	278	c.120G>T	c.(118-120)gaG>gaT	p.E40D	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E40D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	40					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ATGGCGCTGAGATTCAGAGAA	0.428000													59	98					1.27334e-21	1.67702e-21	1	1	0
METTL17	64745	broad.mit.edu	37	14	21463327	21463327	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21463327C>T	ENST00000339374.6	+	10	1113	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	METTL17_ENST00000556670.2_Silent_p.L294L|METTL17_ENST00000382985.4_Silent_p.L294L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	294					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGAACAGGTACTGGTGGAGAA	0.463000													51	86					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93467605	93467605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93467605T>C	ENST00000394196.4	+	3	1185	c.117T>C	c.(115-117)agT>agC	p.S39S	CHD2_ENST00000420239.2_Silent_p.S39S|CHD2_ENST00000536619.1_Silent_p.S52S|CHD2_ENST00000557381.1_Silent_p.S39S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	39	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCGGAAAGTGAGCAGGGAA	0.468000													12	85					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39440589	39440589	+	Silent	SNP	G	G	A	rs140286102		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440589G>A	ENST00000378803.1	-	3	314	c.315C>T	c.(313-315)agC>agT	p.S105S	CDKL4_ENST00000395035.3_Silent_p.S105S	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	105	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCCATAATACGCTTTTGATCA	0.343000													26	43					0	0	1	0	0
METTL18	92342	broad.mit.edu	37	1	169762769	169762769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169762769C>T	ENST00000310392.4	-	2	421	c.68G>A	c.(67-69)gGa>gAa	p.G23E	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G23E	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	23						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						GGTCAAAGCTCCATCTCTAAT	0.373000													52	50					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964116	123964116	+	Silent	SNP	C	C	T	rs139940405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:123964116C>T	ENST00000314393.4	+	3	1201	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	122						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGTACGACTCCCTAT	0.478000													15	39					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17017756	17017756	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17017756C>T	ENST00000492551.1	-	0	1971					NR_026567.1																						CACCTCCAGGCGGGCATGCTG	0.662000													5	14					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8261009	8261009	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8261009G>A	ENST00000402384.3	-	5	542	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ICA1_ENST00000407906.1_Silent_p.N92N|ICA1_ENST00000265577.7_Silent_p.N91N|ICA1_ENST00000401396.1_Silent_p.N80N|ICA1_ENST00000406470.2_Silent_p.N92N|ICA1_ENST00000422063.2_Silent_p.N92N|ICA1_ENST00000396675.3_Silent_p.N92N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	92	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCCAGTTCGTTTTCTTCTT	0.423000													15	78					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403000													19	22					1.01871e-10	1.25892e-10	1	1	0
ZNF592	9640	broad.mit.edu	37	15	85342424	85342424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85342424G>T	ENST00000299927.3	+	6	3142	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K1040N			Q92610	ZN592_HUMAN	zinc finger protein 592	1040					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACACAGTAAAGAAGTTCTACA	0.547000													18	96					4.81078e-24	6.37752e-24	1	1	0
TPO	7173	broad.mit.edu	37	2	1499859	1499859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1499859C>T	ENST00000345913.4	+	12	2196	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	TPO_ENST00000329066.4_Missense_Mutation_p.T702I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T702I|TPO_ENST00000349624.3_Missense_Mutation_p.T529I|TPO_ENST00000382201.3_Missense_Mutation_p.T645I|TPO_ENST00000337415.3_Missense_Mutation_p.T702I|TPO_ENST00000382198.1_Missense_Mutation_p.T529I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	702					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTGGCCTCACCAGGGTGCCC	0.567000													4	37					0	0	1	0	0
CHIAP2	0	broad.mit.edu	37	1	111825270	111825270	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825270A>G	ENST00000369743.4	+	0	1059					NR_003928.1																						CGCCAGTATGAGTTTGACGGG	0.527000													4	60					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83433159	83433159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83433159G>A	ENST00000296591.5	-	5	787	c.369C>T	c.(367-369)tgC>tgT	p.C123C	EDIL3_ENST00000380138.3_Silent_p.C113C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	123	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTCAACTTCGCATTCATTTA	0.333000													31	47					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662000													10	15					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70738645	70738645	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70738645T>C	ENST00000354185.4	+	13	2048	c.1950T>C	c.(1948-1950)atT>atC	p.I650I		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	650						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCAAATATTAGTTATGCTT	0.383000													11	86					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778417	5778417	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778417C>A	ENST00000381624.3	+	22	2188	c.2127C>A	c.(2125-2127)atC>atA	p.I709I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	709						integral to membrane											TCTTTAGCATCTACGTGTATG	0.572000													6	53					0.0381472	0.0390147	1	1	0
GPAM	57678	broad.mit.edu	37	10	113932026	113932026	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:113932026A>G	ENST00000348367.4	-	9	905	c.708T>C	c.(706-708)taT>taC	p.Y236Y	GPAM_ENST00000369425.1_Silent_p.Y236Y|GPAM_ENST00000423155.1_Silent_p.Y236Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	236					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAGCAGCAGATAGTCAATAT	0.373000													23	41					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21508203	21508203	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21508203A>G	ENST00000313654.9	+	63	8535	c.8295_splice	c.e63+1	p.K2765_splice	LAMA3_ENST00000399516.3_Splice_Site_p.K2709_splice|LAMA3_ENST00000587184.1_Splice_Site_p.K1100_splice|LAMA3_ENST00000269217.6_Splice_Site_p.K1156_splice|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2765					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGACTGGAAGGTAAGTGAA	0.453000													3	24					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123428988	123428988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123428988T>C	ENST00000542678.1	-	7	4168	c.1330A>G	c.(1330-1332)Aac>Gac	p.N444D	ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000392439.3_Missense_Mutation_p.N444D|ABCB9_ENST00000540285.1_Missense_Mutation_p.N444D|ABCB9_ENST00000442028.2_Missense_Mutation_p.N444D|ABCB9_ENST00000344275.7_Missense_Mutation_p.N444D|ABCB9_ENST00000280560.8_Missense_Mutation_p.N444D|ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000442833.2_Missense_Mutation_p.N444D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	444	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCGATGAGGTTGCCGCTGGTC	0.587000													10	93					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858323	12858323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858323T>C	ENST00000456430.2	+	10	1933	c.1892T>C	c.(1891-1893)aTc>aCc	p.I631T	CAND2_ENST00000295989.5_Missense_Mutation_p.I538T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	631					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCCCGCCATCAAGGCGCTT	0.627000													49	74					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398094	37398094	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37398094C>T	ENST00000405091.2	-	4	524	c.273G>A	c.(271-273)agG>agA	p.R91R	TEX33_ENST00000381821.1_Silent_p.R91R|TEX33_ENST00000402860.3_Silent_p.R6R			O43247	EAN57_HUMAN	testis expressed 33	91																	TCTTCAGGGACCTGGACTGTG	0.642000													10	10					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455951	30455951	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30455951G>T	ENST00000478753.2	-	1	1551	c.1098C>A	c.(1096-1098)acC>acA	p.T366T	SEPHS2_ENST00000500504.2_Silent_p.T366T|SEPHS2_ENST00000542752.1_Silent_p.T309T			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	366					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTTCAGCTGAGGTTCCTTGAA	0.478000													4	74					0.217242	0.218821	1	1	0
MKL1	57591	broad.mit.edu	37	22	40827453	40827453	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40827453G>T	ENST00000396617.3	-	6	685	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	MKL1_ENST00000407029.1_Missense_Mutation_p.S32Y|MKL1_ENST00000355630.3_Missense_Mutation_p.S32Y|MKL1_ENST00000402630.1_Missense_Mutation_p.S32Y|MKL1_ENST00000402042.1_Missense_Mutation_p.S32Y			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCCGGCCGGGAACGAATCTT	0.468000			T	RBM15	acute megakaryocytic leukemia								17	223					1.33834e-09	1.62941e-09	1	1	0
CMTM5	0	broad.mit.edu	37	14	23848328	23848328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23848328C>T	ENST00000359320.3	+	3	812	c.368C>T	c.(367-369)gCt>gTt	p.A123V	CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.A72V|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.A190V|CMTM5_ENST00000555731.1_Missense_Mutation_p.A85V	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	190	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCATTGCTGCTTTTGTGAGT	0.582000													20	23					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15292681	15292681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15292681C>T	ENST00000253693.2	+	21	2609	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	786	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAATATCATTCCTAGTACCTT	0.338000													51	77					0	0	1	0	0
PCDHAC1	0	broad.mit.edu	37	5	140307659	140307659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140307659C>A	ENST00000253807.2	+	1	1182	c.1182C>A	c.(1180-1182)taC>taA	p.Y394*	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.Y394*|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAACTACTACAGCCTGC	0.517000													4	22					0.00909568	0.00947522	1	1	0
SRPX2	27286	broad.mit.edu	37	X	99901318	99901318	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99901318G>T	ENST00000481988.1	+	2	295		c.e2-1		SRPX2_ENST00000373004.3_5'UTR			O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2						angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCCTTTCAAGGATGGCCAGT	0.453000													39	52					1.52319e-26	2.02909e-26	1	1	0
OR2K2	26248	broad.mit.edu	37	9	114089774	114089774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114089774C>T	ENST00000374428.1	-	1	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E314K(1)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408000													20	41					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	486833	486833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486833C>T	ENST00000280886.6	-	4	459	c.372G>A	c.(370-372)tcG>tcA	p.S124S	DIP2C_ENST00000381496.3_Silent_p.S17S|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	124						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGCGTCCATCGAGGTCTGCA	0.612000													24	32					0	0	1	0	0
ABHD10	55347	broad.mit.edu	37	3	111697940	111697940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111697940C>T	ENST00000273359.3	+	1	59	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ABHD10_ENST00000494817.1_Missense_Mutation_p.A11V|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	11						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCTGTGGCGGCCTGGGTACCT	0.687000													6	14					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35093169	35093169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35093169G>A	ENST00000378617.3	-	6	1371	c.977C>T	c.(976-978)aCg>aTg	p.T326M	PIGO_ENST00000361778.2_Missense_Mutation_p.T326M|PIGO_ENST00000298004.5_Missense_Mutation_p.T326M|PIGO_ENST00000341666.3_Missense_Mutation_p.T326M	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	326					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCCAGCGTGGGCACAAG	0.542000													13	21					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56148787	56148787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56148787G>A	ENST00000452681.2	-	11	1369	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	PHKG1_ENST00000537360.1_Missense_Mutation_p.P321L|PHKG1_ENST00000297373.2_Missense_Mutation_p.P375L	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	375					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGCCTTGGGTGTGTTCTC	0.637000													3	58					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997794	27997794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27997794C>T	ENST00000441525.1	-	1	1772	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	553										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAACAGGTGACGCACGAAGAA	0.478000													29	62					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875554	46875554	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46875554A>T	ENST00000359759.4	+	1	131	c.110A>T	c.(109-111)gAc>gTc	p.D37V	COL18A1_ENST00000355480.5_Missense_Mutation_p.D37V|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	37					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AATAATGAGGACACCAGCCAT	0.627000													22	49					0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135231130	135231130	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135231130G>T	ENST00000274520.1	-	3	192	c.183_splice	c.e3+1	p.S61_splice		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	61					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATACTTACAGAGGGAATGCC	0.294000													8	66					1.76689e-08	2.11513e-08	1	1	0
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	C	T	rs138614817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16504355C>T	ENST00000304523.5	-	8	1356	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.A343T|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	345							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCCCAGCGCGGGTGAATTG	0.532000													16	173					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43506021	43506021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43506021G>T	ENST00000306862.2	-	4	1136	c.761C>A	c.(760-762)cCt>cAt	p.P254H	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	254										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAAAGACAAAGGATATTTCCA	0.398000													12	86					7.03913e-09	8.47891e-09	1	1	0
CXorf48	54967	broad.mit.edu	37	X	134305083	134305083	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134305083G>T	ENST00000344129.2	-	1	239	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	CXorf48_ENST00000276241.6_Missense_Mutation_p.L5M	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	5										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTCAGAAGCCTGAGC	0.632000													28	34					1.2476e-16	1.61147e-16	1	1	0
IL20RA	53832	broad.mit.edu	37	6	137330486	137330486	+	Missense_Mutation	SNP	C	C	T	rs143005532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137330486C>T	ENST00000367748.1	-	3	800	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	IL20RA_ENST00000367746.3_Missense_Mutation_p.V183M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V134M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.V183M			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	183	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AACACAGACACGTTATACTTC	0.418000													35	79					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308747	248308747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308747C>T	ENST00000366476.1	+	1	298	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGTGCCACACAAATTTTCTT	0.463000													17	314					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155174654	155174654	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155174654T>G	ENST00000368378.3	-	4	658	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	213					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGCACTGTGGATGGACTC	0.532000													9	113					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234855	103234855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103234855G>T	ENST00000428762.1	-	26	3783	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E	RELN_ENST00000424685.2_Missense_Mutation_p.D1208E|RELN_ENST00000343529.5_Missense_Mutation_p.D1208E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGTCATAGTCCTCCCCTG	0.493000													170	98					1.0846e-72	1.46864e-72	1	1	0
MTHFD2	10797	broad.mit.edu	37	2	74432916	74432916	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74432916C>A	ENST00000394053.2	+	2	266	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Silent_p.A62A|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Silent_p.A62A|MTHFD2_ENST00000264090.4_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	62					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGTGGGTGGCCTCAGGCAACA	0.537000													14	32					4.3838e-07	5.12524e-07	1	1	0
CHD6	0	broad.mit.edu	37	20	40033814	40033814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40033814G>T	ENST00000373233.3	-	37	7744	c.7567C>A	c.(7567-7569)Cca>Aca	p.P2523T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2523					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCATGCCTGGCAGCATCATG	0.597000													28	39					1.12875e-08	1.35699e-08	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6638999	6638999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6638999C>T	ENST00000315579.5	+	29	4511	c.3712C>T	c.(3712-3714)Cga>Tga	p.R1238*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R1193*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1238					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCTCACAGAGCGAGGCCTCCG	0.522000													41	47					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201569	24201569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201569G>T	ENST00000536471.1	-	3	797	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	CNR2_ENST00000374472.4_Missense_Mutation_p.S180Y			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	180					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAAAAGCTCAGAGCAGGGCCT	0.567000													4	40					0.184627	0.186383	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6807113	6807113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6807113C>T	ENST00000307401.4	+	1	866	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAATTGTCACTCCAGCCCTG	0.507000													28	34					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805642	157805642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157805642G>T	ENST00000368174.4	-	3	455	c.359C>A	c.(358-360)gCt>gAt	p.A120D		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	120	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCCCCAGCATCTTCATC	0.498000													71	96					7.25294e-45	9.79468e-45	1	1	0
SETDB1	9869	broad.mit.edu	37	1	150936218	150936218	+	Splice_Site	SNP	G	G	A	rs111660370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468000													30	43					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474911	78474911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78474911A>G	ENST00000258873.4	-	7	996	c.791T>C	c.(790-792)cTg>cCg	p.L264P	ACSBG1_ENST00000560817.1_Missense_Mutation_p.L22P|ACSBG1_ENST00000541759.1_Missense_Mutation_p.L22P	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	264					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GATGGCGTCCAGGGCTTCCTC	0.587000													4	32					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356327	42356327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356327G>T	ENST00000554171.1	+	5	2931	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	LRFN5_ENST00000298119.4_Missense_Mutation_p.V167F|LRFN5_ENST00000554120.1_Missense_Mutation_p.V167F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	167						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGGATGCTGTTGAGAAGAT	0.423000										HNSCC(30;0.082)			21	25					4.35082e-09	5.25983e-09	1	1	0
FAT1	2195	broad.mit.edu	37	4	187524130	187524130	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187524130G>A	ENST00000441802.2	-	20	11618	c.11409C>T	c.(11407-11409)tcC>tcT	p.S3803S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3803	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACACATTCGGATCCCTCAG	0.517000										HNSCC(5;0.00058)			39	54					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2413265C>T	ENST00000202625.2	+	13	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567000													33	47					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36515309	36515309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36515309C>T	ENST00000360535.4	-	7	1134	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CLIP3_ENST00000593074.1_Missense_Mutation_p.D303N|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	303					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCATCCAGCAGCACG	0.622000													6	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413090	179413090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179413090A>G	ENST00000589042.1	-	339	93487	c.93263T>C	c.(93262-93264)tTc>tCc	p.F31088S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28520S|TTN_ENST00000359218.5_Missense_Mutation_p.F22148S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22215S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29447S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29447	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACACGGAAATAGTACGG	0.478000													15	151					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122170392	122170392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122170392C>A	ENST00000344337.6	-	8	918	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	248	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTGCAAATTCTGGAGGTGGA	0.398000													5	83					0.217242	0.218821	1	1	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100169	27100169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27100169T>C	ENST00000607124.1	-	1	360	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K121E|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K121E			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	121					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGTGTACTTGGTGACGGCC	0.562000													19	36					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485034	100485034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100485034G>A	ENST00000388793.4	+	16	2286	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	SRRT_ENST00000432932.1_Missense_Mutation_p.R689H|SRRT_ENST00000347433.4_Missense_Mutation_p.R690H|SRRT_ENST00000457580.2_Missense_Mutation_p.R690H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	690					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGATGGGGCGCAAAGACCCA	0.552000													54	31					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110431221	110431221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110431221C>T	ENST00000265175.5	+	8	1785	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	SEC24B_ENST00000399100.2_Missense_Mutation_p.A542V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A607V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	577					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGAATAAAGCTAAGCTTCCT	0.343000													13	24					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247771	41247771	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41247771G>A	ENST00000446533.3	+	3	903	c.594G>A	c.(592-594)gcG>gcA	p.A198A	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Silent_p.A153A	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	198					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGGCCCTGCGCCTGAAGAGG	0.597000													52	86					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175605	79175605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79175605G>T	ENST00000554719.1	+	4	639	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A50S|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCTCGCCTGGCCCGGATTGC	0.463000													4	55					0.00024832	0.0002712	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19639072	19639072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19639072G>T	ENST00000438132.3	+	16	1643	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	C16orf62_ENST00000543152.1_Missense_Mutation_p.R192M|C16orf62_ENST00000417362.2_Missense_Mutation_p.R376M|C16orf62_ENST00000251143.5_Missense_Mutation_p.R443M|C16orf62_ENST00000448695.1_Missense_Mutation_p.R293M|C16orf62_ENST00000542263.1_Missense_Mutation_p.R465M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	443						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATCGCCACAAGGTCTATGGAT	0.483000													7	101					0.00307968	0.00325696	1	1	0
SULF2	55959	broad.mit.edu	37	20	46318928	46318928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46318928C>T	ENST00000359930.4	-	5	1530	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	SULF2_ENST00000484875.1_Missense_Mutation_p.G227S|SULF2_ENST00000361612.4_Missense_Mutation_p.G227S|SULF2_ENST00000467815.1_Missense_Mutation_p.G227S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	227					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCTCAGGGCCGTGGGGGGCT	0.567000													19	27					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964872	40964872	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40964872A>C	ENST00000313164.9	+	14	2138	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	593	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGGGGAAAAATGTAGTGT	0.378000													26	49					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709443	19709443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19709443G>A	ENST00000438754.2	+	9	1209	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	SEPT5_ENST00000455784.2_Missense_Mutation_p.E305K|SEPT5_ENST00000383045.3_Missense_Mutation_p.E314K|SEPT5_ENST00000406395.1_Missense_Mutation_p.R301Q	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGCACTACGAGAACTACCG	0.632000													15	25					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636938	45636938	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45636938G>A	ENST00000273317.4	+	1	588	c.567G>A	c.(565-567)aaG>aaA	p.K189K	LIMD1_ENST00000440097.1_Silent_p.K189K|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	189					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAGCCCAAAGTGGGGTGACA	0.597000													7	61					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11049593G>A	ENST00000470054.1	-	0	515									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383000													14	191					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118503347	118503347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118503347G>A	ENST00000311085.8	+	23	5266	c.5186G>A	c.(5185-5187)aGa>aAa	p.R1729K	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1729K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1729										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATAGCAAGACTCTATGAG	0.318000													9	21					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478000													4	53					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55408813	55408813	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55408813A>G	ENST00000401408.1	-	10	1419	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Silent_p.S358S|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Silent_p.S236S	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		GAAAAGCATGACTTGTGATAA	0.373000													19	32					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90025469	90025469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025469C>T	ENST00000563594.1	+	6	1417	c.420C>T	c.(418-420)cgC>cgT	p.R140R	DEF8_ENST00000268676.7_Silent_p.R201R|DEF8_ENST00000563795.1_Silent_p.R140R|DEF8_ENST00000570182.1_Silent_p.R130R|DEF8_ENST00000418391.2_Silent_p.R140R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Silent_p.R140R|DEF8_ENST00000567874.1_Silent_p.R80R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	201					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTGAGCACCGCTTTTACAAGG	0.562000													8	123					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73108321	73108321	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73108321G>T	ENST00000423166.2	+	8	564		c.e8-1		WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCTGCAGGGGCTGAGTG	0.587000													5	66					0.184627	0.186383	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780630	37780630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37780630G>A	ENST00000447769.1	+	4	924	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GPR141_ENST00000334425.1_Missense_Mutation_p.R212H|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAAGCTACGCCACTCTTTA	0.413000													49	149					0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80950356	80950356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80950356G>T	ENST00000379096.5	-	6	664	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	TPD52_ENST00000518937.1_Missense_Mutation_p.L207M|TPD52_ENST00000448733.2_Missense_Mutation_p.L238M|TPD52_ENST00000517427.1_Missense_Mutation_p.L233M|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000520527.1_Missense_Mutation_p.L247M|TPD52_ENST00000379097.3_Missense_Mutation_p.L224M|TPD52_ENST00000519303.2_Missense_Mutation_p.L60M	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	224					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GAATCTCACAGGCTCTCCTGT	0.498000													10	101					3.86212e-05	4.30401e-05	1	1	0
YY1AP1	55249	broad.mit.edu	37	1	155649258	155649258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649258C>A	ENST00000368340.5	-	3	589	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.E89*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000438245.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000405763.3_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.E12*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.E23*	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTCCTCTTCTGGGCCATCA	0.493000													24	63					4.7796e-09	5.77107e-09	1	1	0
FLG	2312	broad.mit.edu	37	1	152275432	152275432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152275432C>T	ENST00000368799.1	-	3	11965	c.11930G>A	c.(11929-11931)gGc>gAc	p.G3977D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3977					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGCCATGTCTCCA	0.418000									Ichthyosis				81	101					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57605281	57605281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57605281G>A	ENST00000243077.3	+	85	13569	c.13103G>A	c.(13102-13104)gGc>gAc	p.G4368D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4368	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCACGGATGGCCGGGTGGCC	0.647000													4	32					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27737199	27737199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27737199C>T	ENST00000354914.3	-	8	1723	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	413	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667000													27	36					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87369043	87369043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87369043C>T	ENST00000311635.7	-	7	875	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	288					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGTAGATGCGGCGGTAGGT	0.637000													7	17					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296260	29296260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29296260C>T	ENST00000331664.5	-	1	867	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	290					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGAAGCTGCCGGTGAGCGAG	0.557000													34	59					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618224	37618224	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618224A>G	ENST00000399151.3	+	19	4031	c.3946A>G	c.(3946-3948)Acc>Gcc	p.T1316A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1316					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGCTGCTCACCTACCTCTG	0.597000													40	74					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119674287G>T	ENST00000371322.5	-	11	1635	c.1574C>A	c.(1573-1575)gCc>gAc	p.A525D	CUL4B_ENST00000404115.3_Missense_Mutation_p.A543D|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	543					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313000													26	45					1.5548e-18	2.02858e-18	1	1	0
EML2	24139	broad.mit.edu	37	19	46142120	46142120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46142120T>G	ENST00000536630.1	-	5	611	c.473A>C	c.(472-474)gAa>gCa	p.E158A	EML2_ENST00000589876.1_Missense_Mutation_p.E11A|EML2_ENST00000587152.1_Missense_Mutation_p.E212A|EML2_ENST00000245925.3_Missense_Mutation_p.E11A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	11					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAAGATAACTTCTTTGGTTTT	0.522000													26	42					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608054	29608054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29608054T>A	ENST00000431530.3	+	2	2326	c.2268T>A	c.(2266-2268)tgT>tgA	p.C756*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	746	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTTTTGTTCTCCTCCCT	0.443000													11	19					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218469	48218469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48218469G>A	ENST00000394747.1	-	22	3489	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1047V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1047V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1047V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1047	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGCCTCAATGCCATCCATCG	0.483000													6	89					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455116	76455116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76455116T>C	ENST00000389840.5	-	61	9910	c.9786A>G	c.(9784-9786)caA>caG	p.Q3262Q	DNAH17_ENST00000585328.1_Silent_p.Q3271Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGCTTCTCTTGTGCCTCTG	0.597000													4	88					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88317493	88317493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88317493C>T	ENST00000392844.3	+	6	578	c.530C>T	c.(529-531)aCa>aTa	p.T177I	ORC3_ENST00000417380.2_Missense_Mutation_p.T124I|ORC3_ENST00000546266.1_Missense_Mutation_p.T34I|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.T177I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	177					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAAGAAAGACACATTATTCA	0.363000													22	40					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484689	118484689	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484689G>A	ENST00000311085.8	+	18	3247	c.3167G>A	c.(3166-3168)cGt>cAt	p.R1056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATACAAATCGTTTAGCAGTA	0.403000													62	100					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814102	137814102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814102C>T	ENST00000409968.1	+	3	430	c.252C>T	c.(250-252)agC>agT	p.S84S	THSD7B_ENST00000272643.3_Silent_p.S84S|THSD7B_ENST00000413152.2_Silent_p.S53S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTGAGAGCAACAGGCCTC	0.532000													16	21					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382238	27382238	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27382238C>T	ENST00000323372.4	+	6	1291	c.966_splice	c.e6+1	p.T322_splice	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	322					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGCATGTACACGGTAAGGGGT	0.572000													8	96					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74513320	74513320	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74513320G>T	ENST00000373379.1	+	2	565	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	UPRT_ENST00000530743.1_5'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.G134C|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	134					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCCAGTAGAGGTGACTTCAT	0.343000													77	153					2.93434e-44	3.96179e-44	1	1	0
RNF2	6045	broad.mit.edu	37	1	185067376	185067376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067376G>T	ENST00000367510.3	+	5	925	c.637G>T	c.(637-639)Gca>Tca	p.A213S	RNF2_ENST00000367509.4_Missense_Mutation_p.A141S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	213					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TAACAATGCAGCAATGGCAAT	0.428000													45	45					8.01111e-26	1.06612e-25	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145368641	145368641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368641G>A	ENST00000342960.5	+	84	10654	c.10619G>A	c.(10618-10620)aGt>aAt	p.S3540N	NBPF10_ENST00000369339.2_Missense_Mutation_p.S658N|NBPF10_ENST00000369338.1_Missense_Mutation_p.S656N	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3540										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACGGTGACAAGTCTCCACCTG	0.463000													23	381					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562000													19	40					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53230839	53230839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53230839C>T	ENST00000452825.3	-	12	2285	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	KDM5C_ENST00000404049.3_Missense_Mutation_p.A651T|KDM5C_ENST00000375379.3_Missense_Mutation_p.A652T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A611T|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.A652T	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	652	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCAGGCAGCCATCTTGCAG	0.582000			"""N, F, S"""		clear cell renal carcinoma								17	37					0	0	1	0	0
COX7A1	1346	broad.mit.edu	37	19	36642626	36642626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36642626G>A	ENST00000292907.3	-	2	508	c.47C>T	c.(46-48)tCc>tTc	p.S16F	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	16					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCGGTGGAGCTGAAGGA	0.692000													5	4					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845839	44845839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44845839G>A	ENST00000225512.5	-	4	1077	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	305					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CATCGATGCCGTGGGAGGTGA	0.587000													14	115					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116130640	116130640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116130640C>T	ENST00000374183.4	+	5	698	c.659C>T	c.(658-660)aCg>aTg	p.T220M	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	220	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTGGGCAACGGCGGTTCTT	0.532000													30	67					0	0	1	0	0
KRBOX4	55634	broad.mit.edu	37	X	46322661	46322661	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46322661C>A	ENST00000344302.4	+	5	802	c.171C>A	c.(169-171)atC>atA	p.I57I	KRBOX4_ENST00000360017.5_Silent_p.I57I|KRBOX4_ENST00000377919.2_Silent_p.I57I|KRBOX4_ENST00000478600.1_Silent_p.I57I|KRBOX4_ENST00000487081.1_Silent_p.I57I|KRBOX4_ENST00000298190.6_Silent_p.I57I	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4																		CAGATGTGATCTTCAGGTTGG	0.567000													21	42					3.8784e-16	4.99462e-16	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114860832	114860832	+	Silent	SNP	C	C	T	rs139934700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114860832C>T	ENST00000374270.3	-	10	1564	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	SUSD1_ENST00000374264.2_Silent_p.T464T|SUSD1_ENST00000374263.3_Silent_p.T464T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	464						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATAATCAGTCGTAGGGTACA	0.478000													23	39					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30701893	30701893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30701893C>A	ENST00000399921.1	+	4	1898	c.1655C>A	c.(1654-1656)cCa>cAa	p.P552Q	BACH1_ENST00000286800.3_Missense_Mutation_p.P552Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	552						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGCTTACTCCAGAACAGCTG	0.373000													10	24					7.48243e-07	8.70085e-07	1	1	0
GBF1	8729	broad.mit.edu	37	10	104120794	104120794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104120794C>T	ENST00000369983.3	+	13	1665	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	469					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGCATAGAGCGACTAAACCT	0.473000													52	110					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15744416	15744416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15744416C>T	ENST00000380701.3	+	17	2523	c.2195C>T	c.(2194-2196)gCa>gTa	p.A732V	CCDC171_ENST00000297641.3_Missense_Mutation_p.A732V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	732																	GCAGCCTGTGCATTAATGGCT	0.448000													36	56					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56160646	56160646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56160646G>A	ENST00000399503.3	+	4	920	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	307					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAACCGCCGTGTTAACAAA	0.498000													8	42					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P116P			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	116						nucleus	DNA binding	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567000													39	64					0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151179873	151179873	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151179873A>G	ENST00000394123.3	+	10	1195	c.1050A>G	c.(1048-1050)gaA>gaG	p.E350E	G3BP1_ENST00000356245.3_Silent_p.E350E|G3BP1_ENST00000543466.1_Silent_p.E168E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	350	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGCCTCATGAAGTGGACAAAT	0.433000													6	65					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11735422	11735422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11735422C>T	ENST00000381486.2	+	12	2042	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	GREB1_ENST00000234142.5_Missense_Mutation_p.A581V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	581						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCACTCCTGCGGAGTACCAG	0.522000													14	19					0	0	1	0	0
HIST2H2BA	0	broad.mit.edu	37	1	120906237	120906237	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120906237C>A	ENST00000430394.1	+	0	210					NR_027337.1																						TCATGAACTCCTTCGTCAACG	0.617000													14	105					3.27435e-08	3.90559e-08	1	1	0
WDSUB1	151525	broad.mit.edu	37	2	160092648	160092648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160092648G>A	ENST00000409990.3	-	11	1583	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	WDSUB1_ENST00000409124.1_Missense_Mutation_p.R396C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R443C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R443C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R351C	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	443	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGACTTGTACGTTTCTTTTTG	0.363000													15	24					0	0	1	0	0
TRAX	0	broad.mit.edu	37	1	231665031	231665031	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231665031A>G	ENST00000602962.1	+	2	205	c.47A>G	c.(46-48)gAc>gGc	p.D16G	TSNAX_ENST00000366639.4_Missense_Mutation_p.D16G|TSNAX_ENST00000602825.1_3'UTR																							AGGAAGCATGACAATTTCCCA	0.383000													22	102					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93429188	93429188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93429188C>A	ENST00000267615.6	-	6	544	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ITPK1_ENST00000555495.1_Missense_Mutation_p.R5M|ITPK1_ENST00000556603.2_Missense_Mutation_p.R124M|ITPK1_ENST00000354313.3_Missense_Mutation_p.R124M|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	124	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGAGCAGATCCTGTCGTCTAG	0.647000													14	29					9.31168e-06	1.06029e-05	1	1	0
EFNB1	1947	broad.mit.edu	37	X	68060409	68060409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:68060409A>G	ENST00000204961.4	+	5	1733	c.953A>G	c.(952-954)gAg>gGg	p.E318G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	318					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCCCACTATGAGAAGGTGAGT	0.612000													10	15					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49963374	49963374	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49963374G>C	ENST00000376056.2	-	2	180	c.30C>G	c.(28-30)agC>agG	p.S10R	AKAP4_ENST00000358526.2_Missense_Mutation_p.S19R|AKAP4_ENST00000376058.2_Missense_Mutation_p.S10R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S10R			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	19					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCCCTGTGGCTGCGTAACC	0.433000													11	13					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52427409	52427409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52427409A>G	ENST00000420323.2	+	66	10795	c.10534A>G	c.(10534-10536)Aac>Gac	p.N3512D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3577					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCTACAGCAACGTCTGCCG	0.542000													17	30					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	rs148702312	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000355385.3_Missense_Mutation_p.V861I|BOC_ENST00000273395.4_Missense_Mutation_p.V862I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612000													27	56					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103018615	103018615	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103018615G>T	ENST00000375735.2	+	19	2961	c.2818_splice	c.e19+1	p.Q939_splice	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.Q939_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	939	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTCCATACAGGGTAAATACA	0.274000													5	37					1.23904e-05	1.39987e-05	1	1	0
DNM1P46	0	broad.mit.edu	37	15	100331336	100331336	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331336G>T	ENST00000341853.1	-	0	2855					NR_003260.1																						TGCTCACGTGGCCCCAACCCC	0.567000													7	57					0.0293803	0.0301098	1	1	0
C11orf16	56673	broad.mit.edu	37	11	8948649	8948649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8948649G>A	ENST00000326053.5	-	4	503	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.Q133*|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACTCTCTGCTGCTGGGCTGGC	0.547000													17	32					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949379	56949379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56949379C>T	ENST00000497933.1	+	1	159	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTCAGAAGCCCCACCTTCA	0.597000													6	23					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962830	12962830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12962830C>T	ENST00000251472.4	+	8	896	c.857C>T	c.(856-858)gCg>gTg	p.A286V	MAST1_ENST00000591495.1_Missense_Mutation_p.A282V	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	286					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACGCCCTGCGAGGCTGCTG	0.612000													28	27					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169831808	169831808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169831808C>A	ENST00000367772.4	-	10	1283	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.E362D|SCYL3_ENST00000367771.5_Missense_Mutation_p.E362D	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	362					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACGTAGGCCTCGATGTGAG	0.542000													26	294					1.42536e-11	1.77909e-11	1	1	0
IFNA8	3445	broad.mit.edu	37	9	21409185	21409185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21409185A>C	ENST00000380205.1	+	1	40	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AATGGCCTTGACTTTTTATTT	0.498000													5	64					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506742	44506742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44506742G>A	ENST00000255152.2	+	2	1754	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ZSWIM3_ENST00000454862.2_Silent_p.E509E	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	515							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGAGTGGGAGGTGGTACAGA	0.567000													14	24					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12123223C>A	ENST00000379388.2	+	4	3527	c.3195C>A	c.(3193-3195)ggC>ggA	p.G1065G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403000													27	61					1.50538e-07	1.77473e-07	1	1	0
TRAX	0	broad.mit.edu	37	1	231673028	231673028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231673028C>T	ENST00000602962.1	+	3	349	c.191C>T	c.(190-192)aCt>aTt	p.T64I	TSNAX_ENST00000366639.4_Missense_Mutation_p.T64I|TSNAX_ENST00000602825.1_3'UTR																							CGGGATATAACTGTTGAAAGT	0.328000													20	43					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61488197	61488197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61488197C>T	ENST00000257215.5	+	3	258	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	48					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTATAACCCGCACGAGGCCTG	0.617000													4	53					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448840	89448840	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448840C>A	ENST00000399794.2	-	3	1385	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D224Y|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	224							nucleotide binding|RNA binding										CTTGGGTAATCTCTGCTTGAA	0.453000													49	132					2.24722e-20	2.95023e-20	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40840894	40840894	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40840894G>A	ENST00000264638.4	+	10	1674	c.1456_splice	c.e10-1	p.G486_splice	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	486	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTGCTCCAGGTTGTCCCAAG	0.602000													20	50					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294946	62294946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62294946G>A	ENST00000378024.4	-	5	7217	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2315					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACATCAGGCATGGAGATC	0.468000													46	108					0	0	1	0	0
PROSER2	254427	broad.mit.edu	37	10	11908610	11908610	+	Silent	SNP	C	C	T	rs142720162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11908610C>T	ENST00000277570.5	+	3	373	c.219C>T	c.(217-219)gaC>gaT	p.D73D	PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		ACTCCCTAGACGAGGACTTTG	0.547000													42	60					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92732292C>T	ENST00000379958.2	-	3	3388	c.3119G>A	c.(3118-3120)cGc>cAc	p.R1040H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363000													6	132					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142168414	142168414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142168414G>A	ENST00000350721.4	-	47	7913	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R2534*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2598					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGTAGTCGCTGCTCAATG	0.353000								Other conserved DNA damage response genes					15	29					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182635856	182635856	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182635856C>A	ENST00000323116.5	+	30	3758	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1166					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACAGGAGCATCTTGACTCTCT	0.428000													5	93					0.00116845	0.00124821	1	1	0
TAS2R46	259292	broad.mit.edu	37	12	11214399	11214399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11214399C>A	ENST00000533467.1	-	1	494	c.495G>T	c.(493-495)aaG>aaT	p.K165N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	165					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCAGTTTGATCTTCCAAGTCA	0.363000													26	46					1.55469e-16	2.00715e-16	1	1	0
SULT2A1	6822	broad.mit.edu	37	19	48389406	48389406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389406C>T	ENST00000222002.3	-	1	248	c.109G>A	c.(109-111)Gta>Ata	p.V37I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	37					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AATATTATTACATCTTCATCC	0.413000													14	197					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578855	149578855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149578855C>T	ENST00000230671.2	+	5	1020	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L217F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	217						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCGCTGGAACCTCTGCCTCTG	0.637000													29	29					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194307	154194307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154194307T>C	ENST00000360256.4	-	9	1581	c.1381A>G	c.(1381-1383)Att>Gtt	p.I461V	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	461	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATGCTGAATAGCTTCACGA	0.393000													56	97					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100353533	100353533	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353533G>A	ENST00000294724.4	+	21	3159		c.e21-1		AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000361915.3_Splice_Site|AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000361302.3_Splice_Site|AGL_ENST00000370163.3_Splice_Site|AGL_ENST00000370161.2_Splice_Site	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAATTCTTAGTCTTGCCTCC	0.348000													4	78					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65739321	65739321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65739321G>A	ENST00000341861.5	-	20	4178	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	DPP8_ENST00000559233.1_Silent_p.S866S|DPP8_ENST00000321118.7_Silent_p.S817S|DPP8_ENST00000339244.5_Silent_p.S693S|DPP8_ENST00000300141.6_Silent_p.S850S|DPP8_ENST00000358939.4_Silent_p.S750S|DPP8_ENST00000321147.6_Silent_p.S815S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	866					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAACTCTTATGCTGTGTCTCT	0.343000													25	79					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418936	53418936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53418936G>A	ENST00000377942.3	-	3	3175	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	991					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607000													16	34					0	0	1	0	0
MCCD1	401250	broad.mit.edu	37	6	31496809	31496809	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31496809C>A	ENST00000376191.2	+	1	316	c.18C>A	c.(16-18)ccC>ccA	p.P6P		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	6						mitochondrion				skin(1)	1						TCCCTCTGCCCTGGCTCTCTC	0.627000													4	82					0.0215528	0.0221649	1	1	0
USHBP1	83878	broad.mit.edu	37	19	17373578	17373578	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17373578C>A	ENST00000252597.3	-	4	598	c.425G>T	c.(424-426)aGc>aTc	p.S142I	USHBP1_ENST00000431146.2_Missense_Mutation_p.S78I|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	142							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCAGAATGGCTGGGGGGCTG	0.677000													5	68					0.0381472	0.0390147	1	1	0
FBXO43	286151	broad.mit.edu	37	8	101153262	101153262	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153262G>T	ENST00000428847.2	-	2	1536	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	407					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTTTTTCAGAGTCAGGGTG	0.473000													47	60					3.10996e-30	4.16621e-30	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160326407	160326407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160326407C>T	ENST00000368063.1	+	16	1877	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y	NCSTN_ENST00000535857.1_Missense_Mutation_p.H415Y|NCSTN_ENST00000294785.5_Missense_Mutation_p.H553Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.H533Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.H295Y			Q92542	NICA_HUMAN	nicastrin	553					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTCTTCAACATTACATCGC	0.527000													7	105					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144093464	144093464	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144093464T>G	ENST00000427704.2	+	7	1399	c.1269T>G	c.(1267-1269)tcT>tcG	p.S423S	PHACTR2_ENST00000367582.3_Silent_p.S354S|PHACTR2_ENST00000440869.2_Silent_p.S434S|PHACTR2_ENST00000367584.4_Silent_p.S411S|PHACTR2_ENST00000305766.6_Silent_p.S343S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	423							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGGCGAATCTTCAGAATCCT	0.512000													5	46					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129036	152129036	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152129036G>T	ENST00000316073.3	-	3	603	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	180	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTGTGGTGAGAATCTCTGTC	0.463000													11	422					4.36969e-10	5.35656e-10	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10085059	10085059	+	Missense_Mutation	SNP	C	C	T	rs140683403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10085059C>T	ENST00000264828.3	-	46	3453	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1123	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGGGGTCCCCGGCGCCCCTG	0.602000													10	22					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611316	17611316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17611316C>T	ENST00000381869.3	-	2	2474	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTUS1_ENST00000381862.3_Silent_p.K667K|MTUS1_ENST00000262102.6_Silent_p.K667K|MTUS1_ENST00000519263.1_Silent_p.K667K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	667						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTTTCACCCTTCTTTTCAG	0.353000													7	64					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746182	150746182	+	Missense_Mutation	SNP	C	C	A	rs62001891	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150746182C>A	ENST00000357922.4	+	1	804	c.210C>A	c.(208-210)ttC>ttA	p.F70L	ASIC3_ENST00000349064.5_Missense_Mutation_p.F70L|ASIC3_ENST00000297512.8_Missense_Mutation_p.F70L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	70					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										ACAGGGAGTTCCACCACCAGA	0.657000													17	61					1.55795e-14	1.98882e-14	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46771765	46771765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771765C>A	ENST00000394809.4	-	3	974	c.859G>T	c.(859-861)Gga>Tga	p.G287*	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	287					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GACGATGCTCCTTGTCCTGCA	0.662000													12	89					2.80697e-09	3.39963e-09	1	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848935	29848935	+	Missense_Mutation	SNP	C	C	T	rs145696920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29848935C>T	ENST00000325874.8	+	6	990	c.761C>T	c.(760-762)gCg>gTg	p.A254V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A152V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	254	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAATCAGTGCGGGGCAGACG	0.502000													12	29					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050780	32050780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32050780T>C	ENST00000271064.7	+	8	962	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S265P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	296					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCCCTTCTCGGGCCGTGA	0.652000													40	67					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861280	38861280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38861280G>A	ENST00000409235.3	+	29	3443	c.3328G>A	c.(3328-3330)Gcc>Acc	p.A1110T	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1070T|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAACCTCATTGCCTCAGAATC	0.547000													34	44					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532000													82	141					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134491471	134491471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134491471C>T	ENST00000367858.5	-	14	2113	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	SGK1_ENST00000475719.2_Missense_Mutation_p.V367I|SGK1_ENST00000413996.3_Missense_Mutation_p.V425I|SGK1_ENST00000237305.7_Missense_Mutation_p.V411I|SGK1_ENST00000528577.1_Missense_Mutation_p.V439I|SGK1_ENST00000367857.5_Missense_Mutation_p.V401I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	411					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTTCCTTGACGCTGGCTGTG	0.552000													14	13					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626764	128626764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626764C>T	ENST00000335251.5	+	11	1688	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	529										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATATGCAGTCATTTGCCCAA	0.368000													47	100					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128550	30128550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30128550G>A	ENST00000484663.1	-	5	1623	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MAPK3_ENST00000403394.1_Nonsense_Mutation_p.R278*|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000263025.4_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.R210*			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	278	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AGGTAGTTTCGGGCCTTCATG	0.517000													15	43					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076370	54076370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54076370G>A	ENST00000373970.3	+	4	743	c.604G>A	c.(604-606)Gct>Act	p.A202T		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	202	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATTGTGTTGTGCTAGACACTT	0.433000													41	83					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647534	125647534	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125647534G>A	ENST00000485843.1	+	0	679					NR_024251.1																						CACTGGACTGGAATGTTTGGA	0.443000													7	16					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649430	75649430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75649430G>A	ENST00000361470.2	+	1	1385	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	369	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCTGTGCCGCCCACCGCCT	0.672000													7	15					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163714	154163714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154163714G>T	ENST00000368530.2	-	2	383	c.191C>A	c.(190-192)gCt>gAt	p.A64D	TPM3_ENST00000271850.7_Missense_Mutation_p.A64D	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	63					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATCCTTCAAAGCTTCAGAATA	0.488000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								21	87					2.37509e-13	3.01126e-13	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53879183	53879183	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53879183T>C	ENST00000267079.2	-	6	1024	c.799A>G	c.(799-801)Aag>Gag	p.K267E	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGACATCTTGGTGCTCTTG	0.507000													108	153					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559424	210559424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559424C>T	ENST00000360351.4	+	7	3036	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R840C	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	844					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGATAGTCGTACTGGCTT	0.493000													5	94					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552133	50552133	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50552133A>G	ENST00000262794.5	+	6	883	c.800A>G	c.(799-801)aAc>aGc	p.N267S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.N247S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N267S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.N267S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	267					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGAAGAACAAAGGTGAT	0.463000													10	70					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102631870	102631870	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102631870G>A	ENST00000251808.3	+	9	1540	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	GRHL2_ENST00000395927.1_Missense_Mutation_p.R385H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	401						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATAACAATCGTAGCAATAAA	0.363000													31	58					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124215217	124215217	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124215217C>A	ENST00000360013.3	+	33	5013	c.4886C>A	c.(4885-4887)tCc>tAc	p.S1629Y	KALRN_ENST00000460856.1_Missense_Mutation_p.S1620Y|KALRN_ENST00000240874.3_Missense_Mutation_p.S1629Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCATCTCCATTGCTTCT	0.547000													10	61					0.000151284	0.000166931	1	1	0
PADI3	51702	broad.mit.edu	37	1	17593293	17593293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17593293T>C	ENST00000375460.3	+	5	528	c.488T>C	c.(487-489)gTc>gCc	p.V163A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	163					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGTGATGTCCAGGACAAT	0.602000													43	49					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100452273	100452273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100452273G>T	ENST00000354161.3	+	3	338	c.213G>T	c.(211-213)caG>caT	p.Q71H	SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q71H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	71						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTACTGCAGGCCCTGGCCA	0.632000													5	97					0.0215528	0.0221649	1	1	0
PTH	5741	broad.mit.edu	37	11	13514211	13514211	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13514211T>G	ENST00000282091.1	-	3	203	c.89A>C	c.(88-90)aAg>aCg	p.K30T	PTH_ENST00000529816.1_Missense_Mutation_p.K30T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	30					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CACAGATCTCTTCCTGGGAAG	0.438000													4	66					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706483	128706483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706483C>T	ENST00000265068.5	-	4	810	c.643G>A	c.(643-645)Gac>Aac	p.D215N	KIAA1257_ENST00000515659.1_Missense_Mutation_p.D103N|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D215N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GCTCCCACGTCGTCTGTGAAG	0.423000													25	44					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6549437	6549437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6549437G>A	ENST00000263125.5	-	4	439	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.R114*|PRKCQ_ENST00000539722.1_Intron	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	114	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTAGCATTCGGCCTTGAGGT	0.468000													65	110					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080469	23080469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23080469T>G	ENST00000219689.7	-	16	2956	c.2957A>C	c.(2956-2958)aAt>aCt	p.N986T	USP31_ENST00000567975.1_Missense_Mutation_p.N279T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	986	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GATCTGATTATTGTTATCAAA	0.532000													5	85					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010629	70010629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70010629T>G	ENST00000532298.1	-	7	648	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GCTGCCGCCATTCTGACCTGT	0.517000													4	33					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937777	67937777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67937777C>T	ENST00000252336.6	+	5	1153	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	STARD8_ENST00000374599.3_Missense_Mutation_p.R341C|STARD8_ENST00000374597.3_Missense_Mutation_p.R261C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	261					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGTGAGGGGCGCCGGGGCTC	0.637000													7	5					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168817	113168817	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113168817A>C	ENST00000401783.2	-	38	9399	c.9063T>G	c.(9061-9063)gaT>gaG	p.D3021E	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2998E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D947E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3021	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTCAAAATCTGTCCCAT	0.522000													11	13					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297126	28297126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28297126G>A	ENST00000414429.1	-	6	1238	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.A112V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.A112V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.A112V					zinc finger and SCAN domain containing 31																		TTCAACTACAGCCACAGCCTC	0.537000													27	182					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123732462	123732462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123732462G>A	ENST00000223642.1	-	32	4177	c.4148C>T	c.(4147-4149)aCt>aTt	p.T1383I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1383					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATATCCTGAGTATCGATTTT	0.343000													13	25					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650213	23650213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23650213T>C	ENST00000478691.1	-	5	479	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374612.1_Missense_Mutation_p.K171E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.K171E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.K171E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.K133E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.K32E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	171	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTGGTATTTTGCCTACAAAT	0.408000													7	62					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81899628	81899628	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81899628T>G	ENST00000220597.4	-	6	961	c.251A>C	c.(250-252)aAt>aCt	p.N84T		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	84					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTGCCCCATTCTGCTCACT	0.463000													5	43					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076929	93076929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076929G>A	ENST00000510627.4	-	1	414	c.341C>T	c.(340-342)cCg>cTg	p.P114L	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCTGGCGGCGGCAACTTCGG	0.627000													12	28					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737282	44737282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737282G>A	ENST00000222673.5	+	17	2301	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	OGDH_ENST00000449767.1_Silent_p.T749T|OGDH_ENST00000439616.2_Silent_p.T603T|OGDH_ENST00000444676.1_Silent_p.T768T|OGDH_ENST00000447398.1_Silent_p.T764T|OGDH_ENST00000543843.1_Silent_p.T704T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	753					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCCACAACACGGCCCAGTGTA	0.582000													8	94					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42225804	42225804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42225804G>T	ENST00000319977.4	+	3	870	c.633G>T	c.(631-633)aaG>aaT	p.K211N	C17orf53_ENST00000585683.1_Missense_Mutation_p.K211N|C17orf53_ENST00000245382.6_Missense_Mutation_p.K211N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	211										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTGCCAGAAGGGGCCTGTGC	0.562000													9	110					7.48243e-07	8.70085e-07	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160998528	160998528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160998528C>T	ENST00000283249.2	-	8	1309	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ITGB6_ENST00000409872.1_Missense_Mutation_p.G358R|ITGB6_ENST00000428609.2_Missense_Mutation_p.G316R|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.G358R			P18564	ITB6_HUMAN	integrin, beta 6	358	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAATGTTTCCGGAGTCCTTC	0.363000													13	24					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227169	7227169	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227169C>T	ENST00000399464.2	-	12	2240	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	NEURL4_ENST00000315614.7_Missense_Mutation_p.R742H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R720H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R742H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTCGCTGCGACAGTTGTG	0.612000													29	54					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853555	176853555	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176853555G>T	ENST00000367654.2	-	19	3183	c.3170C>A	c.(3169-3171)cCa>cAa	p.P1057Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1049Q			O14525	ASTN1_HUMAN	astrotactin 1	1057	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCCGATTGGTGGCTCTGA	0.532000													13	76					0.0135373	0.0140872	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120489701	120489701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120489701G>A	ENST00000283875.5	+	3	668	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	192					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R192L(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGCTTCGGGAGACAGAG	0.463000													123	187					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18768031	18768031	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18768031G>A	ENST00000361511.4	+	7	851	c.357G>A	c.(355-357)acG>acA	p.T119T	PPEF1_ENST00000359763.6_Intron|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Silent_p.T119T|PPEF1_ENST00000543630.1_Silent_p.T119T|PPEF1_ENST00000544635.1_Silent_p.T54T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	119					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACTTGTACGGATATTGATT	0.433000													66	115					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17413088	17413088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17413088G>A	ENST00000444885.2	-	5	599	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PADI2_ENST00000375481.1_Silent_p.G254G|PADI2_ENST00000375486.4_Silent_p.G254G			Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	0					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAAACAGAGGCCTTCCACGA	0.622000													30	41					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140723715	140723715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140723715C>A	ENST00000253812.6	+	1	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAGGAGCTAGATAAAGG	0.622000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	107					2.94884e-30	3.95093e-30	1	1	0
HIP1	3092	broad.mit.edu	37	7	75184725	75184725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75184725G>A	ENST00000336926.6	-	19	1984	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	HIP1_ENST00000434438.2_Missense_Mutation_p.S653F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	653					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTACCTGCAGACCCAGCGCA	0.557000			T	PDGFRB	CMML								12	51					0	0	1	0	0
C12orf76	400073	broad.mit.edu	37	12	110488836	110488836	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110488836A>G	ENST00000548191.1	-	2	532	c.275T>C	c.(274-276)gTc>gCc	p.V92A	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000309050.5_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATGTTAAAGACACTGTGCAC	0.468000													5	7					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198779	91198779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91198779G>A	ENST00000341233.4	-	6	910	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	SLC16A12_ENST00000371790.4_Missense_Mutation_p.R204W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	174						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAGGCTCCCCGCCAGGAAAAC	0.498000													4	68					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891356	1891356	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1891356T>A	ENST00000399161.2	-	17	3293	c.2546A>T	c.(2545-2547)gAg>gTg	p.E849V	MYT1L_ENST00000428368.2_Missense_Mutation_p.E847V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	849					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTAGAGCCTCCTGGAATGG	0.527000													30	81					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42630635	42630635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42630635T>A	ENST00000318010.8	+	16	2030	c.1790T>A	c.(1789-1791)aTt>aAt	p.I597N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	597					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACTTGAAAATTTCTATCCCA	0.423000													22	31					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005007	102005007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102005007A>G	ENST00000372735.1	+	4	1669	c.1084A>G	c.(1084-1086)Aac>Gac	p.N362D	BHLHB9_ENST00000448867.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N362D|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N362D			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	362						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTTTATTAACGAAGTAGG	0.388000													6	62					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944893	43944893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43944893G>A	ENST00000343694.3	+	10	1159	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Missense_Mutation_p.G363S|RBPJL_ENST00000372741.3_Missense_Mutation_p.G363S	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	363					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GACCATCATCGGCACCGAGTC	0.632000													24	50					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66575796	66575796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66575796C>T	ENST00000299697.7	-	3	567	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	TK2_ENST00000527284.1_Missense_Mutation_p.A42T|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000564917.1_Missense_Mutation_p.A73T|TK2_ENST00000417693.3_Missense_Mutation_p.A73T|TK2_ENST00000545043.2_Intron|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000544898.1_Missense_Mutation_p.A24T|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000451102.2_Missense_Mutation_p.A73T	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACGTCTGTCGCGTTGGAGAAG	0.473000													27	46					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806727C>T	ENST00000260908.7	-	2	619	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000													18	12					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471094	76471094	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76471094C>T	ENST00000396423.2	+	8	1039	c.915C>T	c.(913-915)atC>atT	p.I305I	HNF4G_ENST00000354370.1_Silent_p.I268I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	268					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGCAGATCGGTTTGGAGG	0.468000													5	58					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086349	171086349	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086349A>G	ENST00000367755.4	+	9	1477	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	FMO3_ENST00000542847.1_Missense_Mutation_p.K436E|FMO3_ENST00000538429.1_Missense_Mutation_p.K393E|FMO3_ENST00000392085.2_Missense_Mutation_p.K456E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGATCCCAAATTGGCCAT	0.498000													9	52					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2284592	2284592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2284592G>A	ENST00000301727.4	+	11	1650	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Silent_p.Q534Q	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	534	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAACGCACAGCAGGTGCACT	0.647000													3	3					0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2519811	2519811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2519811G>A	ENST00000378424.4	+	4	463	c.447G>A	c.(445-447)gcG>gcA	p.A149A	FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000378425.5_Intron|FAM213B_ENST00000444521.2_Silent_p.A119A|FAM213B_ENST00000484099.1_Intron|FAM213B_ENST00000419916.2_Intron			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	106					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TTGGCCAAGCGACCTGGTGTC	0.637000													27	32					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160165307	160165307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160165307G>A	ENST00000368079.3	+	5	891	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CASQ1_ENST00000368078.3_Missense_Mutation_p.A212T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	212						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCTTCTTCGCCACCTTCGA	0.552000													26	32					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846456	28846456	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28846456C>A	ENST00000336783.4	+	19	2678	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	ATXN2L_ENST00000325215.6_Silent_p.S837S|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.S843S|ATXN2L_ENST00000340394.8_Silent_p.S837S|ATXN2L_ENST00000570200.1_Silent_p.S837S|ATXN2L_ENST00000382686.4_Silent_p.S837S|ATXN2L_ENST00000395547.2_Silent_p.S837S|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	837						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGTGTCATCCTCTACCCCTC	0.642000													33	79					6.84511e-11	8.47551e-11	1	1	0
PHF13	148479	broad.mit.edu	37	1	6680296	6680297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6680296_6680297insA	ENST00000377648.4	+	3	957_958	c.575_576insA	c.(574-576)aaafs	p.K192fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	192					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAAAGAAATAAAAACTGAAG	0.554													11	23	---	---	---	---					
ZC3H12A	80149	broad.mit.edu	37	1	37941142	37941143	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37941142_37941143insA	ENST00000373087.6	+	2	161_162	c.45_46insA	c.(43-48)ccccatfs	p.H16fs		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	16					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCAGCCCCACCATGAGTCT	0.634													37	67	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)cgcfs	p.R345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													18	49	---	---	---	---					
DOCK7	85440	broad.mit.edu	37	1	62941476	62941477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62941476_62941477insA	ENST00000251157.5	-	45	5862_5863	c.5829_5830insT	c.(5827-5832)cagggafs	p.Q1943fs	DOCK7_ENST00000340370.5_Frame_Shift_Ins_p.Q1923fs|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1954	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAGTTCCCCATGGGCACGGC	0.391													18	150	---	---	---	---					
RAVER2	55225	broad.mit.edu	37	1	65296646	65296647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65296646_65296647insA	ENST00000294428.3	+	12	2132_2133	c.2054_2055insA	c.(2053-2055)taafs	p.*685fs	RAVER2_ENST00000430964.2_Frame_Shift_Ins_p.*224fs|RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.*672fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446													9	142	---	---	---	---					
TYW3	127253	broad.mit.edu	37	1	75229674	75229675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75229674_75229675insA	ENST00000370867.3	+	6	746_747	c.657_658insA	c.(655-660)aaaaaafs	p.KK219fs	TYW3_ENST00000457880.2_Frame_Shift_Ins_p.KK186fs|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000421739.2_Frame_Shift_Ins_p.KK135fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	219					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342													30	60	---	---	---	---					
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-426)tttfs	p.F142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411													32	119	---	---	---	---					
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958518_78958519insT	ENST00000370756.3	+	2	327_328	c.90_91insT	c.(88-93)gtttttfs	p.VF30fs	PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	30					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.450													27	96	---	---	---	---					
IFI44	10561	broad.mit.edu	37	1	79116271	79116272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79116271_79116272insA	ENST00000370747.4	+	2	476_477	c.391_392insA	c.(391-393)aaafs	p.K131fs	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	131					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGACAATGGAAAATCTTGGA	0.327													41	113	---	---	---	---					
EVI5	7813	broad.mit.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)tgfs	p.M408fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318													40	126	---	---	---	---					
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100889837delC	ENST00000370125.2	+	5	857	c.369delC	c.(367-369)aafs	p.N123fs	CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403													7	142	---	---	---	---					
C1orf162	128346	broad.mit.edu	37	1	112019956	112019957	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112019956_112019957insA	ENST00000343534.5	+	4	358_359	c.107_splice	c.e4-1	p.KK36_splice	C1orf162_ENST00000369718.3_Splice_Site_p.KK36_splice|C1orf162_ENST00000464591.1_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	36						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCAAAACAGCAAAAAACATTT	0.431													31	40	---	---	---	---					
WARS2	10352	broad.mit.edu	37	1	119618995	119618996	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119618995_119618996insT	ENST00000369426.5	-	2	328_329	c.325_326insA	c.(325-327)catfs	p.H109fs	WARS2_ENST00000235521.4_Frame_Shift_Ins_p.H109fs|WARS2_ENST00000537870.1_Frame_Shift_Ins_p.H15fs			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	109					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAAAAGGATGCTTTTTTCCGGG	0.446													50	79	---	---	---	---					
ADAM30	11085	broad.mit.edu	37	1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438116delT	ENST00000369400.1	-	1	1002	c.844delA	c.(844-846)gtfs	p.S282fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTAATACACTTTTTTTATAT	0.343													12	61	---	---	---	---					
S100A7	6278	broad.mit.edu	37	1	153430402	153430403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153430402_153430403insT	ENST00000368723.3	-	3	295_296	c.185_186insA	c.(184-186)agafs	p.R62fs	S100A7_ENST00000368722.1_Frame_Shift_Ins_p.R62fs	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	62	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTCTTGTCCTTTTTCTCAAA	0.416													50	74	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155349914	155349915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155349914_155349915insA	ENST00000368346.3	-	8	6750_6751	c.6111_6112insT	c.(6109-6114)tttttcfs	p.FF2037fs	ASH1L_ENST00000392403.3_Intron			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2037					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAAACAAAAAACACTA	0.322													21	58	---	---	---	---					
IFI16	3428	broad.mit.edu	37	1	158984476	158984476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158984476delA	ENST00000295809.7	+	2	261	c.6delA	c.(4-6)ggfs	p.G2fs	IFI16_ENST00000368132.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000430894.2_Frame_Shift_Del_p.G6fs|IFI16_ENST00000368131.4_Frame_Shift_Del_p.G2fs|IFI16_ENST00000359709.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000448393.2_Frame_Shift_Del_p.G2fs|IFI16_ENST00000340979.6_Frame_Shift_Del_p.G2fs			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	2	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAGATGGGAAAAAAATACA	0.313													11	64	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161018566	161018567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161018566_161018567insT	ENST00000368013.3	-	12	2564_2565	c.2244_2245insA	c.(2242-2247)aaaaatfs	p.N749fs	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.N572fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	749	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCAATTTCTTTTTCCTTCT	0.485													81	195	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176708801	176708802	+	Frame_Shift_Ins	INS	-	-	T	rs75317943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176708801_176708802insT	ENST00000367662.3	+	13	5002_5003	c.3838_3839insT	c.(3838-3840)tttfs	p.F1280fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1280					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCAATTTTTATTTTTTTGACA	0.446													38	73	---	---	---	---					
SWT1	54823	broad.mit.edu	37	1	185143874	185143875	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185143874_185143875insA	ENST00000367500.4	+	5	760_761	c.595_596insA	c.(595-597)aaafs	p.K199fs	SWT1_ENST00000367501.3_Frame_Shift_Ins_p.K199fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	199										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGACAATTCTGAAAAATGTGTC	0.347													25	63	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186031667	186031667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186031667delA	ENST00000271588.4	+	48	7677	c.7448delA	c.(7447-7449)gafs	p.E2483fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.E2483fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2483	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGGGTGAAAATACATTG	0.378													34	60	---	---	---	---					
PTGS2	5743	broad.mit.edu	37	1	186645975	186645976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186645975_186645976insT	ENST00000367468.5	-	6	848_849	c.712_713insA	c.(712-714)gaafs	p.E238fs	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	238					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTGATATTTCATTTTTCCATCC	0.312													7	416	---	---	---	---					
KDM5B	10765	broad.mit.edu	37	1	202724582	202724583	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202724582_202724583insA	ENST00000367265.3	-	11	2521		c.e11-2		KDM5B_ENST00000456180.1_Splice_Site|KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATACTCCTAAAAATAAGAA	0.347													37	90	---	---	---	---					
ZC3H11A	9877	broad.mit.edu	37	1	203819706	203819707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819706_203819707insA	ENST00000545588.1	+	15	5830_5831	c.2003_2004insA	c.(2002-2004)caafs	p.Q668fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.Q668fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	668							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATTGGCCCCAAAACGTAAGG	0.505													44	95	---	---	---	---					
SOX13	9580	broad.mit.edu	37	1	204082240	204082241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082240_204082241insT	ENST00000367204.1	+	2	306_307	c.197_198insT	c.(196-198)cggfs	p.R66fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	66					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCCAGCCCAGGGGAATTTCA	0.688													4	4	---	---	---	---					
PGBD2	0	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)ttfs	p.F99fs	PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													18	164	---	---	---	---					
MSH2	4436	broad.mit.edu	37	2	47643491	47643492	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47643491_47643492insA	ENST00000406134.1	+	6	1061_1062	c.999_1000insA	c.(997-1002)tgaaacfs	p.N334fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.N268fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.N334fs			P43246	MSH2_HUMAN	mutS homolog 2	334					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATAAGTGTAAAACCCCTCA	0.391			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	130	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													48	109	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61633019	61633020	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61633019_61633020insT	ENST00000398571.2	-	3	451_452	c.375_376insA	c.(373-378)aacaaafs	p.NK125fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	125					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAGAGTTTGATTTTTTTTCTA	0.347													34	58	---	---	---	---					
TPRKB	51002	broad.mit.edu	37	2	73957782	73957783	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73957782_73957783insT	ENST00000318190.7	-	5	582_583	c.462_463insA	c.(460-465)aaaaatfs	p.N155fs	TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Frame_Shift_Ins_p.N116fs|TPRKB_ENST00000409716.2_Frame_Shift_Ins_p.N155fs			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	116					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TGATTTATTTGTTTTTCTCCCT	0.292													22	59	---	---	---	---					
MRPS5	64969	broad.mit.edu	37	2	95775727	95775728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95775727_95775728insT	ENST00000272418.2	-	4	544_545	c.336_337insA	c.(334-339)aagaagfs	p.K113fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	113					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCCTCTTCCTTTTTTTGCTC	0.381													48	92	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96521244	96521245	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96521244_96521245insT	ENST00000456556.1	-	63	4848_4849	c.4764_4765insA	c.(4762-4767)aaaaaafs	p.KK1588fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.KK839fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.KK615fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AACATATTTTGTTTTTTTAGTT	0.332													21	152	---	---	---	---					
BUB1	699	broad.mit.edu	37	2	111399019	111399019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111399019delT	ENST00000535254.1	-	21	2655	c.2588delA	c.(2587-2589)atfs	p.N863fs	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Frame_Shift_Del_p.N883fs|BUB1_ENST00000409311.1_Intron	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	883	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCAGGGGTATTTTTATAGAG	0.378													7	178	---	---	---	---					
SCN9A	6335	broad.mit.edu	37	2	167055991	167055992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167055991_167055992insT	ENST00000303354.6	-	27	5500_5501	c.5160_5161insA	c.(5158-5163)aattcafs	p.NS1720fs	SCN9A_ENST00000409672.1_Frame_Shift_Ins_p.NS1708fs|SCN9A_ENST00000375387.4_Frame_Shift_Ins_p.NS1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Frame_Shift_Ins_p.NS1719fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGGATGAACTTTTTTTGGGT	0.421													18	277	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168115079	168115080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115079_168115080insA	ENST00000409728.1	+	11	2211_2212	c.2122_2123insA	c.(2122-2124)aaafs	p.K708fs	XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.K675fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.K708fs|XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.K453fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.K675fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAATGAAAAAACTAAC	0.342													10	30	---	---	---	---					
CCDC141	285025	broad.mit.edu	37	2	179720988	179720989	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179720988_179720989insT	ENST00000420890.2	-	18	2977_2978	c.2860_2861insA	c.(2860-2862)gcafs	p.A954fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.A379fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	379							protein binding	p.M379fs*4(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGCA	0.297													24	73	---	---	---	---					
ZSWIM2	151112	broad.mit.edu	37	2	187702251	187702251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187702251delT	ENST00000295131.2	-	5	564	c.525delA	c.(523-525)aafs	p.K175fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	175					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTCATGCATTTTATATGAA	0.318													31	49	---	---	---	---					
RFTN2	130132	broad.mit.edu	37	2	198480648	198480648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198480648delC	ENST00000295049.3	-	7	1642	c.1106delG	c.(1105-1107)gafs	p.G369fs		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	369						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGAAGCCATCCGAATTCAGC	0.398													2	4	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202569277	202569278	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202569277_202569278insA	ENST00000264276.6	-	32	5109_5110	c.4737_4738insT	c.(4735-4740)ttaggafs	p.LG1579fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1579	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGATCTCCTCAAAAGTCTGCT	0.426													30	47	---	---	---	---					
NBEAL1	65065	broad.mit.edu	37	2	204000598	204000599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204000598_204000599insA	ENST00000449802.1	+	27	4258_4259	c.3925_3926insA	c.(3925-3927)aaafs	p.K1309fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1309							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTCTGATGAAAAAACAGAT	0.361													20	34	---	---	---	---					
MOGAT1	116255	broad.mit.edu	37	2	223554072	223554073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554072_223554073insT	ENST00000446656.3	+	3	362_363	c.362_363insT	c.(361-363)attfs	p.I121fs		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	121					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCCTTTGGGAATTTTTCTGTAA	0.406													24	39	---	---	---	---					
IRAK2	3656	broad.mit.edu	37	3	10283837	10283838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10283837_10283838insA	ENST00000256458.4	+	13	1893_1894	c.1803_1804insA	c.(1801-1806)gcaaagfs	p.AK601fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	601					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAATGAGGCCAAAAGGAAACT	0.406													27	66	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14562059	14562059	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14562059delA	ENST00000273083.3	-	0	778							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATGACGGAGAAAAAAAGTTT	0.512													10	30	---	---	---	---					
CNOT10	25904	broad.mit.edu	37	3	32754743	32754744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32754743_32754744insT	ENST00000328834.5	+	5	771_772	c.455_456insT	c.(454-456)tttfs	p.F152fs	CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.F152fs|CNOT10_ENST00000538368.1_Intron|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.F212fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	152					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAGCAGTGTGTTTTTTGCTTG	0.361													21	55	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47163376	47163377	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163376_47163377insT	ENST00000409792.3	-	3	2791_2792	c.2749_2750insA	c.(2749-2751)ttcfs	p.F917fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACTCTGAACTTTTTTTACTC	0.431			"""N, F, S, Mis"""		clear cell renal carcinoma								44	105	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52668759	52668760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52668759_52668760insA	ENST00000356770.4	-	10	1065_1066	c.1063_1064insT	c.(1063-1065)tcafs	p.S355fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.S387fs			Q86U86	PB1_HUMAN	polybromo 1	387					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAAGCTGATAAAAAGGATTT	0.371			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								53	55	---	---	---	---					
APPL1	26060	broad.mit.edu	37	3	57276920	57276921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57276920_57276921insA	ENST00000288266.3	+	7	599_600	c.452_453insA	c.(451-453)taafs	p.*151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCCGTTTATCAAAAAAAAGAG	0.297													20	49	---	---	---	---					
GXYLT2	727936	broad.mit.edu	37	3	73024186	73024187	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73024186_73024187insG	ENST00000389617.4	+	7	1369_1370	c.1208_1209insG	c.(1207-1209)tgafs	p.*403fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	403					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTGAAGTTTTTGGAGACTGTGC	0.371													41	87	---	---	---	---					
HTR1F	3355	broad.mit.edu	37	3	88040823	88040823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040823delT	ENST00000319595.4	+	1	978	c.924delT	c.(922-924)ccfs	p.P308fs		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	308					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTTGGCTTCCTTTTTTTGTAA	0.368													17	26	---	---	---	---					
DCBLD2	131566	broad.mit.edu	37	3	98518429	98518429	+	Frame_Shift_Del	DEL	C	C	-	rs141432727	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98518429delC	ENST00000326840.6	-	16	2477	c.2115delG	c.(2113-2115)ggfs	p.G705fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.G719fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	705					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGGTTGGTTCCCCGTAGCCT	0.552													10	113	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													19	73	---	---	---	---					
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133329880delT	ENST00000260810.5	-	25	4272	c.4141delA	c.(4141-4143)tcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTGCTGGATTTTTTTTCTC	0.343								Other conserved DNA damage response genes					18	192	---	---	---	---					
RP11-319G6.1	0	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317																											GATGACCAAGGCCCCCCCTTGT	0.530													7	9	---	---	---	---					
WWTR1	25937	broad.mit.edu	37	3	149290789	149290790	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:149290789_149290790insA	ENST00000465804.1	-	4	688		c.e4-2		WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTATGTGACTAAAAGAAGGAA	0.386			T	CAMTA1	epitheliod hemangioendothelioma								22	61	---	---	---	---					
P2RY13	53829	broad.mit.edu	37	3	151046359	151046360	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151046359_151046360insT	ENST00000325602.5	-	2	503_504	c.484_485insA	c.(484-486)ggtfs	p.G162fs	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	162						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GATTGAGACCGTTTTTGCAAAA	0.406													20	35	---	---	---	---					
DHX36	170506	broad.mit.edu	37	3	154041998	154041999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154041998_154041999insT	ENST00000496811.1	-	1	287_288	c.207_208insA	c.(205-210)aaagggfs	p.G70fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.G70fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.G70fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.G70fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	70						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCCCCTGTTTTTTCGCGT	0.634													10	189	---	---	---	---					
SLC33A1	9197	broad.mit.edu	37	3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155560396delA	ENST00000392845.2	-	2	1168	c.788delT	c.(787-789)tcfs	p.F263fs	SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.F263fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	263					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCCCCAGAAAAAAAGGAA	0.244													10	23	---	---	---	---					
NLGN1	22871	broad.mit.edu	37	3	173993227	173993228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:173993227_173993228insT	ENST00000457714.1	+	5	1198_1199	c.769_770insT	c.(769-771)tttfs	p.F257fs	NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.F257fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.F297fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.F257fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	274					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAATCACTGTTTTTGGATCT	0.431													38	67	---	---	---	---					
NAALADL2	254827	broad.mit.edu	37	3	174814914	174814914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:174814914delA	ENST00000454872.1	+	2	506	c.378delA	c.(376-378)ttfs	p.L126fs	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	126					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCACGTCTTAAAAATACTTT	0.388													12	116	---	---	---	---					
ACAP2	23527	broad.mit.edu	37	3	195017950	195017950	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195017950delT	ENST00000326793.6	-	16	1686	c.1456delA	c.(1456-1458)tgfs	p.M486fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	486	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTATTCCCATTTTTTCCACA	0.313													9	123	---	---	---	---					
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196857544_196857545insA	ENST00000346964.2	-	12	1309		c.e12-2		DLG1_ENST00000452595.1_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000422288.1_Splice_Site|DLG1_ENST00000419354.1_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000314062.3_Splice_Site	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													22	36	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gafs	p.D228fs	FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522													33	72	---	---	---	---					
JAKMIP1	152789	broad.mit.edu	37	4	6066711	6066712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066711_6066712insA	ENST00000409021.3	-	9	1775_1776	c.1326_1327insT	c.(1324-1329)ttgattfs	p.LI442fs	JAKMIP1_ENST00000409831.1_Frame_Shift_Ins_p.LI442fs|JAKMIP1_ENST00000410077.2_Frame_Shift_Ins_p.LI277fs|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Frame_Shift_Ins_p.LI442fs|JAKMIP1_ENST00000409371.3_Frame_Shift_Ins_p.LI257fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	442	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.490													22	60	---	---	---	---					
SH3TC1	54436	broad.mit.edu	37	4	8218777	8218778	+	Frame_Shift_Ins	INS	-	-	T	rs149468044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8218777_8218778insT	ENST00000539824.1	+	7	868_869	c.494_495insT	c.(493-495)tggfs	p.W165fs	SH3TC1_ENST00000245105.3_Frame_Shift_Ins_p.W241fs			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	241							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCAGGCTTCGGGGGCACCCC	0.673													8	36	---	---	---	---					
MED28	80306	broad.mit.edu	37	4	17623272	17623273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17623272_17623273insA	ENST00000237380.6	+	3	313_314	c.289_290insA	c.(289-291)aaafs	p.K97fs		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TTTTTTCTTACAAAAAAGATTG	0.337													33	61	---	---	---	---					
PGM2	55276	broad.mit.edu	37	4	37863187	37863188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37863187_37863188insT	ENST00000381967.4	+	14	1893_1894	c.1793_1794insT	c.(1792-1794)cttfs	p.L598fs	PGM2_ENST00000537241.1_Frame_Shift_Ins_p.L438fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	598					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTGAAGAACATTTTTTCCAGC	0.411													41	168	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46067578	46067578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067578delA	ENST00000295452.4	-	4	512	c.345delT	c.(343-345)ttfs	p.F115fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGGTTTGGGCAAAAATTATAT	0.284													21	16	---	---	---	---					
GABRA4	2557	broad.mit.edu	37	4	46981050	46981050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46981050delT	ENST00000264318.3	-	3	1253	c.271delA	c.(271-273)tgfs	p.M91fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	91					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATACCTACCATTTCAACATCA	0.333													9	43	---	---	---	---					
OCIAD1	54940	broad.mit.edu	37	4	48859372	48859372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48859372delA	ENST00000381473.3	+	8	1108	c.690delA	c.(688-690)ccfs	p.P230fs	OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000264312.7_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000513391.2_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000396448.2_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Del_p.P203fs|OCIAD1_ENST00000508293.1_Frame_Shift_Del_p.P230fs	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	230						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAGAGTGCCAAAAAAAGAAG	0.303													8	97	---	---	---	---					
CSN1S1	0	broad.mit.edu	37	4	70810694	70810695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70810694_70810695insA	ENST00000246891.4	+	15	578_579	c.529_530insA	c.(529-531)aaafs	p.K177fs	CSN1S1_ENST00000507772.1_Frame_Shift_Ins_p.K169fs|CSN1S1_ENST00000505782.1_Frame_Shift_Ins_p.K161fs|CSN1S1_ENST00000507763.1_Frame_Shift_Ins_p.K168fs|CSN1S1_ENST00000444405.3_Frame_Shift_Ins_p.K168fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	177						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAAAATTATGAAAAAAATAAC	0.391													45	86	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83279883	83279883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279883delT	ENST00000313899.7	-	4	827	c.550delA	c.(550-552)ttfs	p.I184fs	HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.I30fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.I165fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.I132fs|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.I184fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	184	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CCAACAAAAATTTTTTTAACC	0.368													12	92	---	---	---	---					
HPSE	10855	broad.mit.edu	37	4	84216533	84216533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84216533delA	ENST00000405413.2	-	13	1732	c.1596delT	c.(1594-1596)ttfs	p.F532fs	HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	532	Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTATCACAAAAAAACTAT	0.383													14	117	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85719252	85719253	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85719252_85719253insA	ENST00000322366.6	-	18	3238_3239	c.2831_2832insT	c.(2830-2832)tcgfs	p.S944fs	WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.S944fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	944						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCCAAACGTAAAAACTCCCT	0.317													34	49	---	---	---	---					
STPG2	285555	broad.mit.edu	37	4	99027104	99027105	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99027104_99027105insT	ENST00000295268.3	-	5	700_701	c.612_splice	c.e5+1	p.K204_splice		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTCAACTTACCTTTTTTTTCTC	0.302													8	20	---	---	---	---					
CENPE	1062	broad.mit.edu	37	4	104053958	104053959	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104053958_104053959insA	ENST00000265148.3	-	42	6904_6905	c.6815_6816insT	c.(6814-6816)tgafs	p.*2272fs	CENPE_ENST00000380026.3_Frame_Shift_Ins_p.*2151fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2272	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCACTCTTCCAAAAACTGTGT	0.312													26	68	---	---	---	---					
TET2	54790	broad.mit.edu	37	4	106158447	106158447	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106158447delA	ENST00000513237.1	+	3	4208	c.3411delA	c.(3409-3411)atfs	p.I1137fs	TET2_ENST00000305737.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.I1116fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I1116fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1116					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATACTCCTATAAAAAATTTAT	0.363			"""Mis N, F"""		MDS								40	56	---	---	---	---					
IL15	3600	broad.mit.edu	37	4	142653933	142653934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142653933_142653934insA	ENST00000477265.1	+	7	5348_5349	c.340_341insA	c.(340-342)aaafs	p.K114fs	IL15_ENST00000514653.1_Frame_Shift_Ins_p.K114fs|IL15_ENST00000320650.4_Frame_Shift_Ins_p.K141fs|IL15_ENST00000296545.7_Frame_Shift_Ins_p.K141fs|IL15_ENST00000394159.1_Frame_Shift_Ins_p.K114fs|IL15_ENST00000529613.1_Frame_Shift_Ins_p.K141fs			P40933	IL15_HUMAN	interleukin 15	141					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGAACTGGAGGAAAAAAATATT	0.272													26	82	---	---	---	---					
ABCE1	6059	broad.mit.edu	37	4	146044650	146044651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146044650_146044651insG	ENST00000296577.4	+	16	2053_2054	c.1538_1539insG	c.(1537-1539)aacfs	p.N513fs	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	513	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.K513R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATGCAAAAAAGACAGCCTTTG	0.371													22	38	---	---	---	---					
C4orf27	54969	broad.mit.edu	37	4	170663239	170663240	+	Frame_Shift_Ins	INS	-	-	T	rs34118589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170663239_170663240insT	ENST00000393381.2	-	5	591_592	c.516_517insA	c.(514-519)aattagfs	p.N*172fs		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	172						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTCTCTAAGTTTTTTCGTCA	0.361													7	63	---	---	---	---					
CLDN22	53842	broad.mit.edu	37	4	184241250	184241250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184241250delT	ENST00000323319.5	-	1	677	c.122delA	c.(121-123)atfs	p.N41fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	41					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCCATTTCATTTAAGTCCAG	0.468													8	111	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13781003	13781004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13781003_13781004insT	ENST00000265104.4	-	53	8989_8990	c.8885_8886insA	c.(8884-8886)acafs	p.T2962fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2962	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGCTCTGCTTTCCTGATCC	0.465									Kartagener syndrome				19	20	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													35	84	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36986241	36986242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36986241_36986242insA	ENST00000282516.8	+	10	3458_3459	c.2959_2960insA	c.(2959-2961)aaafs	p.K987fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.K987fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	987					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACAAAGTAGAAAAAATAGGA	0.337													28	151	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37148318	37148319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37148318_37148319insT	ENST00000274258.7	-	42	8544_8545	c.4957_4958insA	c.(4957-4959)attfs	p.I1653fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.I2755fs|C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.I2755fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2755										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCTAATGTTTTTTTGAAT	0.371													19	29	---	---	---	---					
ITGA2	3673	broad.mit.edu	37	5	52376441	52376441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376441delA	ENST00000296585.5	+	25	3172	c.3029delA	c.(3028-3030)cafs	p.Q1010fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1010					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGGGGTGCAAACAGACAAG	0.378													7	53	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52397989	52397990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397989_52397990insA	ENST00000396954.3	-	4	840_841	c.163_164insT	c.(163-165)agtfs	p.S55fs	MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTCATCTACTGAAAGTTTCTCG	0.347													17	24	---	---	---	---					
PLK2	10769	broad.mit.edu	37	5	57750455	57750456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57750455_57750456insT	ENST00000274289.3	-	14	2312_2313	c.2012_2013insA	c.(2011-2013)acgfs	p.T671fs	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	671	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATTCCATTCGATTTTTTAATTC	0.401													42	89	---	---	---	---					
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70791221delA	ENST00000358731.4	+	12	2048	c.1785delA	c.(1783-1785)ctfs	p.L595fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303													39	76	---	---	---	---					
PAM	5066	broad.mit.edu	37	5	102309948	102309949	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102309948_102309949insA	ENST00000438793.3	+	14	1761_1762	c.1291_1292insA	c.(1291-1293)aaafs	p.K431fs	PAM_ENST00000348126.2_Intron|PAM_ENST00000274392.9_Frame_Shift_Ins_p.K334fs|PAM_ENST00000304400.7_Frame_Shift_Ins_p.K431fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Frame_Shift_Ins_p.K431fs|PAM_ENST00000346918.2_Frame_Shift_Ins_p.K431fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	431	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAATGTAGTCCAAAAAAAGGAT	0.426													20	56	---	---	---	---					
CCDC112	153733	broad.mit.edu	37	5	114610915	114610916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114610915_114610916insT	ENST00000379611.5	-	6	1202_1203	c.915_916insA	c.(913-918)aaagtcfs	p.V306fs	CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.V223fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.V223fs|CCDC112_ENST00000512261.1_Frame_Shift_Ins_p.V223fs	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	223								p.E306fs*20(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATTATTACCTCTTTTTTTCTTT	0.332													11	29	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118500926	118500927	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500926_118500927insT	ENST00000311085.8	+	21	5001_5002	c.4921_4922insT	c.(4921-4923)tttfs	p.F1641fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.F1641fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGATGCTGCCATTTTTTACCTT	0.302													23	45	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118502316	118502316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118502316delA	ENST00000311085.8	+	22	5056	c.4976delA	c.(4975-4977)gafs	p.E1659fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318													33	54	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118506838	118506839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118506838_118506839insA	ENST00000311085.8	+	24	6432_6433	c.6352_6353insA	c.(6352-6354)aaafs	p.K2118fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.K2118fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2118										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATTTTCAGGAAAAAAGACAG	0.386													29	63	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610311	127610311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127610311delC	ENST00000508053.1	-	66	8633	c.7659delG	c.(7657-7659)ggfs	p.G2553fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.G2553fs			P35556	FBN2_HUMAN	fibrillin 2	2553	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAGGTAAACCCCCCCAGGG	0.423													37	56	---	---	---	---					
DDX46	9879	broad.mit.edu	37	5	134113367	134113367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134113367delA	ENST00000452510.2	+	6	875	c.717delA	c.(715-717)gtfs	p.V239fs	DDX46_ENST00000354283.4_Frame_Shift_Del_p.V239fs	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	239					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAAGTAAAAAAATTTA	0.378													36	92	---	---	---	---					
SLC4A9	83697	broad.mit.edu	37	5	139742030	139742031	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139742030_139742031insT	ENST00000230993.6	+	6	827_828	c.791_splice	c.e6-1	p.SF264_splice	SLC4A9_ENST00000506545.1_Splice_Site_p.SF240_splice|SLC4A9_ENST00000507527.1_Splice_Site_p.SF264_splice|SLC4A9_ENST00000432095.2_Splice_Site_p.SF240_splice|SLC4A9_ENST00000506757.2_Splice_Site_p.SF240_splice	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	264						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCAGGTTTTTCTGCCT	0.594													30	45	---	---	---	---					
ANKHD1	54882	broad.mit.edu	37	5	139876355	139876356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139876355_139876356insA	ENST00000297183.6	+	15	2620_2621	c.2496_2497insA	c.(2494-2499)aaaaatfs	p.N833fs	ANKHD1_ENST00000360839.2_Frame_Shift_Ins_p.N833fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.N833fs|ANKHD1_ENST00000462121.1_3'UTR	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGAA	0.376													31	77	---	---	---	---					
PCDHB13	0	broad.mit.edu	37	5	140594043	140594044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140594043_140594044insT	ENST00000341948.4	+	1	535_536	c.348_349insT	c.(346-351)gattttfs	p.DF116fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		116	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTCGAGTTTTTTCAAGC	0.460													8	23	---	---	---	---					
RNF145	153830	broad.mit.edu	37	5	158596065	158596066	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158596065_158596066insA	ENST00000424310.2	-	8	1298		c.e8-2		RNF145_ENST00000521606.2_Splice_Site|RNF145_ENST00000518802.1_Splice_Site|RNF145_ENST00000274542.2_Splice_Site|RNF145_ENST00000519865.1_Splice_Site|RNF145_ENST00000520638.1_Splice_Site	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCAT	0.361													23	92	---	---	---	---					
SNORA70	0	broad.mit.edu	37	5	170793158	170793159	+	RNA	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170793158_170793159insG	ENST00000384182.1	+	0	37_38																											CCTTTCCTCATGGGGGCCCAGT	0.475													13	13	---	---	---	---					
FOXF2	2295	broad.mit.edu	37	6	1390670	1390671	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1390670_1390671insG	ENST00000259806.1	+	1	602_603	c.488_489insG	c.(487-489)aggfs	p.R163fs		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	163					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCTGCCTAAGGGCCTCGGGC	0.673													40	56	---	---	---	---					
SLC39A7	7922	broad.mit.edu	37	6	33170830	33170831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33170830_33170831insA	ENST00000374677.3	+	6	1457_1458	c.1084_1085insA	c.(1084-1086)cgafs	p.R362fs	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.R362fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	362						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGAAGTGCCCCACGAGGTCGGA	0.550													10	244	---	---	---	---					
ENPP4	22875	broad.mit.edu	37	6	46107506	46107507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107506_46107507insA	ENST00000321037.4	+	2	416_417	c.186_187insA	c.(184-189)gtaaaafs	p.VK62fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	62						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGAGCATGTTAAAAATGTTTT	0.356													28	68	---	---	---	---					
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56362694_56362695insT	ENST00000370754.5	-	81	19959_19960	c.19960_19961insA	c.(19960-19962)agafs	p.R6654fs	DST_ENST00000370788.2_Frame_Shift_Ins_p.R4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.R6365fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.R6476fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.R4062fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.R6150fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.R4388fs|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													14	35	---	---	---	---					
CD109	135228	broad.mit.edu	37	6	74517834	74517835	+	Frame_Shift_Ins	INS	-	-	T	rs35580099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74517834_74517835insT	ENST00000437994.2	+	26	3649_3650	c.3218_3219insT	c.(3217-3219)cttfs	p.L1073fs	CD109_ENST00000422508.2_Frame_Shift_Ins_p.L996fs|CD109_ENST00000287097.5_Frame_Shift_Ins_p.L1073fs	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1073						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCTATCCATTTTTTGGAGT	0.356													17	47	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87970355	87970356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970355_87970356insA	ENST00000369577.3	+	8	7051_7052	c.7008_7009insA	c.(7006-7011)aaaaaafs	p.KK2336fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.KK2331fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAAACGAAAGAAAAAAAATAA	0.366													10	26	---	---	---	---					
KIAA1919	91749	broad.mit.edu	37	6	111587479	111587480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587479_111587480insT	ENST00000368847.4	+	4	1067_1068	c.714_715insT	c.(712-717)ttttttfs	p.FF238fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	238					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATGT	0.401													23	27	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111695487	111695488	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695487_111695488insT	ENST00000435970.1	-	15	4652_4653	c.3836_3837insA	c.(3835-3837)aatfs	p.N1279fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTCAAATATATTTTTTTGAAT	0.307								DNA polymerases (catalytic subunits)					39	74	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)cccfs	p.P337fs	PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584													18	29	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6771663	6771664	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6771663_6771664insT	ENST00000486256.1	+	0	619					NR_002217.1																						AGGATTCCTACttttttttttc	0.416													37	42	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	TT	rs72390141		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6775132_6775133insTT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													5	1	---	---	---	---					
COL28A1	340267	broad.mit.edu	37	7	7410484	7410484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7410484delT	ENST00000399429.3	-	33	3078	c.2938delA	c.(2938-2940)ttfs	p.I980fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	980	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTCACAAATTTTTTGAAAC	0.338													7	88	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12668726	12668727	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12668726_12668727insT	ENST00000297029.5	+	9	1299_1300	c.1197_splice	c.e9-1	p.L400_splice	SCIN_ENST00000445618.2_Splice_Site_p.L153_splice|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Splice_Site_p.L153_splice	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	400	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCCTTCCAGATTTGGCGTGTA	0.322													12	55	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													11	106	---	---	---	---					
SFRP4	6424	broad.mit.edu	37	7	37953882	37953883	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37953882_37953883insA	ENST00000436072.2	-	3	904		c.e3-2		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCAG	0.426													29	91	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72286071	72286071	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72286071delA	ENST00000438125.1	-	0	234							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTAATAGGACAAAAAAAAACT	0.378													12	57	---	---	---	---					
AC005077.12	0	broad.mit.edu	37	7	75737852	75737853	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75737852_75737853insA	ENST00000434037.1	-	0	244_245																											gactccttctcaaaaaaataac	0.470													7	9	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													7	333	---	---	---	---					
DMTF1	9988	broad.mit.edu	37	7	86824052	86824052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86824052delA	ENST00000414194.2	+	17	3075	c.1283delA	c.(1282-1284)gafs	p.E428fs	DMTF1_ENST00000413276.2_Frame_Shift_Del_p.E624fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.E606fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000394703.5_Frame_Shift_Del_p.E694fs			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	694	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGATGATGAAACAATACTT	0.333													7	82	---	---	---	---					
DBF4	10926	broad.mit.edu	37	7	87526619	87526620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87526619_87526620insA	ENST00000265728.1	+	8	1149_1150	c.645_646insA	c.(643-648)ctaaaafs	p.LK215fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	215					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGGAAGACTCAAAAAGCCTTT	0.317													7	451	---	---	---	---					
SAMD9	54809	broad.mit.edu	37	7	92730919	92730919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92730919delT	ENST00000379958.2	-	3	4761	c.4492delA	c.(4492-4494)ttfs	p.I1498fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1498						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGGTCAATTTTTCCTTTG	0.378													13	101	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													12	40	---	---	---	---					
GPR22	0	broad.mit.edu	37	7	107114902	107114903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107114902_107114903insT	ENST00000304402.4	+	3	1740_1741	c.397_398insT	c.(397-399)tttfs	p.F133fs	COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	133						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGCAATCAACGTTTTTGCTATC	0.391													92	75	---	---	---	---					
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115594657delT	ENST00000265440.7	-	5	602	c.422delA	c.(421-423)agfs	p.K141fs	TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs|TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333													18	82	---	---	---	---					
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-492)aggfs	p.R164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													12	44	---	---	---	---					
EPHB6	0	broad.mit.edu	37	7	142561789	142561794	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142561789_142561794delGGCAGG	ENST00000392957.2	+	7	1018_1023	c.231_236delGGCAGG	c.(229-237)gtg>gt	p.VAG77del	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_In_Frame_Del_p.VAG77del	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	77						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CATGTCATGTGGCAGGGGCCCCTCCA	0.636													7	320	---	---	---	---					
TAS2R41	259287	broad.mit.edu	37	7	143175406	143175407	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175406_143175407insT	ENST00000408916.1	+	1	441_442	c.441_442insT	c.(439-444)ctttttfs	p.LF147fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	147					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L147L(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TAACCCTGCTGTTTTTTTGGGT	0.441													20	56	---	---	---	---					
OR2A7	401427	broad.mit.edu	37	7	143956719	143956720	+	Translation_Start_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143956719_143956720insA	ENST00000493325.1	-	0	95_96				RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATTGTCCCCCATATCCCTATG	0.436													9	435	---	---	---	---					
NAT1	9	broad.mit.edu	37	8	18080414	18080415	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18080414_18080415insT	ENST00000539092.1	+	5	1549_1550	c.858_859insT	c.(856-861)agttttfs	p.SF286fs	NAT1_ENST00000517492.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.SF348fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.SF286fs	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	286					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGATAGATTTTTTACTAT	0.342													30	39	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41122976	41122977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41122976_41122977insT	ENST00000220772.3	-	3	991_992	c.654_655insA	c.(652-657)aaaaaafs	p.KK218fs	SFRP1_ENST00000379845.3_Frame_Shift_Ins_p.KK82fs	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	218	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCGCCATTTTCTTTTTTCACTT	0.421													18	36	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43152139	43152140	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43152139_43152140insA	ENST00000522175.2	+	0	301							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAATTTCCTAAAAAAGTCTC	0.381													27	53	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68995502	68995503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68995502_68995503insT	ENST00000288368.4	+	18	2183_2184	c.1906_1907insT	c.(1906-1908)tttfs	p.F636fs	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	636	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTATT	0.317													29	62	---	---	---	---					
SAMD12	401474	broad.mit.edu	37	8	119593026	119593027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119593026_119593027insT	ENST00000409003.4	-	2	247_248	c.119_120insA	c.(118-120)aaafs	p.K40fs	SAMD12_ENST00000314727.4_Frame_Shift_Ins_p.K40fs	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	40										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAAATTTTTATTTTTAATGGA	0.450													26	55	---	---	---	---					
KIAA0196	9897	broad.mit.edu	37	8	126073352	126073353	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126073352_126073353insT	ENST00000318410.7	-	12	1841_1842	c.1492_1493insA	c.(1492-1494)tgtfs	p.C498fs	KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.C350fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	498					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTTGTACAGTTTTTCTGCCC	0.376													10	34	---	---	---	---					
C9orf72	203228	broad.mit.edu	37	9	27548406	27548406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27548406delT	ENST00000380003.3	-	11	1337	c.1274delA	c.(1273-1275)agfs	p.K425fs	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	425										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTTAAAGGGCTTTTTTCCCTT	0.318													26	39	---	---	---	---					
SMC5	23137	broad.mit.edu	37	9	72962005	72962006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72962005_72962006insT	ENST00000361138.5	+	20	2650_2651	c.2592_2593insT	c.(2590-2595)actggafs	p.G865fs	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	865					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCAAACACATTGGATGAAAT	0.356													7	50	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77386687	77386687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77386687delT	ENST00000451710.3	-	25	3705	c.3468delA	c.(3466-3468)aafs	p.K1156fs	TRPM6_ENST00000449912.2_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.K1156fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1156					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGAAGTATTTTTCCACGC	0.353													14	81	---	---	---	---					
C9orf156	51531	broad.mit.edu	37	9	100667245	100667246	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100667245_100667246insA	ENST00000375119.3	-	5	1171_1172	c.1095_1096insT	c.(1093-1098)ttagtcfs	p.LV365fs		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	365					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTGCTGACTGAAAATATTTAA	0.436													28	59	---	---	---	---					
C9orf84	158401	broad.mit.edu	37	9	114456636	114456636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114456636delT	ENST00000394779.3	-	21	3125	c.2881delA	c.(2881-2883)ttfs	p.I961fs	C9orf84_ENST00000318737.4_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000374287.3_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000394777.4_Frame_Shift_Del_p.I926fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1000										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGGGCAATTATAAGCTAA	0.294													30	308	---	---	---	---					
C9orf114	51490	broad.mit.edu	37	9	131591120	131591120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131591120delT	ENST00000361256.5	-	3	142	c.102delA	c.(100-102)aafs	p.K34fs		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	34										kidney(2)|large_intestine(4)|ovary(1)	7						GATCCTTCCATTTTTTTTTCT	0.527													66	111	---	---	---	---					
KIN	22944	broad.mit.edu	37	10	7817764	7817765	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7817764_7817765insA	ENST00000379562.3	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317													12	25	---	---	---	---					
SGPL1	8879	broad.mit.edu	37	10	72637079	72637080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72637079_72637080insA	ENST00000373202.3	+	15	1894_1895	c.1694_1695insA	c.(1693-1695)caafs	p.Q565fs		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	565					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AATGGTTCTCCAAAACCCCACT	0.500													8	59	---	---	---	---					
CAMK2G	818	broad.mit.edu	37	10	75609093	75609094	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75609093_75609094insA	ENST00000423381.1	-	6	465		c.e6-2		CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site|CAMK2G_ENST00000444854.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATACAGTGGCTAAAAAAGCAGA	0.515											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	22	---	---	---	---					
RP11-399K21.11	0	broad.mit.edu	37	10	77142072	77142073	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77142072_77142073insA	ENST00000418818.2	-	0	142																											CCTTACTAAGGAAAAAATGGGA	0.342													8	19	---	---	---	---					
HELLS	3070	broad.mit.edu	37	10	96317912	96317912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96317912delA	ENST00000348459.5	+	4	398	c.293delA	c.(292-294)gafs	p.E98fs	HELLS_ENST00000394045.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.E98fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	98					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAAGAAAGAAAAATTGGAG	0.269													24	57	---	---	---	---					
ZNF518A	9849	broad.mit.edu	37	10	97917704	97917704	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917704delA	ENST00000534948.1	+	0	2482							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATATGCTTCAAACAATGGAT	0.323													10	105	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103292718	103292718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103292718delA	ENST00000370187.3	+	9	1106	c.988delA	c.(988-990)aafs	p.K330fs	BTRC_ENST00000408038.2_Frame_Shift_Del_p.K294fs|BTRC_ENST00000393441.4_Frame_Shift_Del_p.K289fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCTGGGATAAAAACACATT	0.438													8	112	---	---	---	---					
ABCC8	6833	broad.mit.edu	37	11	17429002	17429003	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17429002_17429003insA	ENST00000302539.4	-	24	2949		c.e24-2		ABCC8_ENST00000389817.3_Splice_Site	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGTCTCCTAAAAGACAGAT	0.520													27	40	---	---	---	---					
HNRNPKP3	0	broad.mit.edu	37	11	43283606	43283608	+	RNA	DEL	AAA	AAA	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43283606_43283608delAAA	ENST00000511537.1	-	0	1327_1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAAAA	0.389													2	4	---	---	---	---					
SSH3	54961	broad.mit.edu	37	11	67074909	67074910	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67074909_67074910insA	ENST00000308127.4	+	6	780		c.e6+2		SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000308298.7_Splice_Site|SSH3_ENST00000532181.1_Splice_Site	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCATGTGGTAAGGACAGAGA	0.619													9	19	---	---	---	---					
PITPNM1	9600	broad.mit.edu	37	11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267648_67267649insG	ENST00000356404.3	-	6	1109_1110	c.884_885insC	c.(883-885)cggfs	p.R295fs	PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.R295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.R295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693													16	52	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412163	77412164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412163_77412164insT	ENST00000308488.6	-	6	2412_2413	c.2110_2111insA	c.(2110-2112)caafs	p.Q704fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.Q452fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.Q673fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	704					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGAATTTGCTTTTTTGCATA	0.406													47	74	---	---	---	---					
SLC36A4	120103	broad.mit.edu	37	11	92917608	92917609	+	Translation_Start_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92917608_92917609insT	ENST00000529184.1	-	0	465_466				SLC36A4_ENST00000326402.4_Frame_Shift_Ins_p.S86fs			Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATGCCTGCATTTTTTATTGC	0.351													111	144	---	---	---	---					
MTMR2	8898	broad.mit.edu	37	11	95582927	95582928	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95582927_95582928insT	ENST00000393223.3	-	11	1349_1350	c.687_688insA	c.(685-690)aaacctfs	p.P230fs	MTMR2_ENST00000346299.5_Frame_Shift_Ins_p.P302fs|MTMR2_ENST00000352297.7_Frame_Shift_Ins_p.P230fs|MTMR2_ENST00000409459.1_Frame_Shift_Ins_p.P230fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	302	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTGAAGGTATTTTTCATCTT	0.441													77	130	---	---	---	---					
C11orf70	85016	broad.mit.edu	37	11	101937226	101937227	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937226_101937227insA	ENST00000434758.2	+	4	307_308	c.279_280insA	c.(277-282)gtaaaafs	p.VK93fs	C11orf70_ENST00000526781.1_Frame_Shift_Ins_p.VK93fs|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	93										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GAACTGAAGTGAAAAAAATTGA	0.287													30	36	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102736573	102736574	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736573_102736574insT	ENST00000532855.1	-	0	1233_1234							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCACA	0.366													10	25	---	---	---	---					
DYNC2H1	79659	broad.mit.edu	37	11	103039600	103039600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103039600delA	ENST00000375735.2	+	32	5023	c.4879delA	c.(4879-4881)aafs	p.K1628fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.K1628fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1628	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGCTTGGAAAAAACAACT	0.323													7	42	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104874010_104874011insT	ENST00000393141.2	-	4	603_604	c.572_573insA	c.(571-573)acafs	p.T191fs	CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T191fs|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T120fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.T178fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.T36fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													25	130	---	---	---	---					
CUL5	8065	broad.mit.edu	37	11	107965657	107965658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965657_107965658insA	ENST00000393094.2	+	15	2302_2303	c.1686_1687insA	c.(1684-1689)taaaaafs	p.*K562fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	562					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATCA	0.371													41	49	---	---	---	---					
EXPH5	23086	broad.mit.edu	37	11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108409862delT	ENST00000265843.4	-	3	442	c.332delA	c.(331-333)agfs	p.K111fs	EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K104fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K35fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTGTCGGCTTTTTTTGATT	0.348													7	127	---	---	---	---					
LAYN	143903	broad.mit.edu	37	11	111425990	111425991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111425990_111425991insA	ENST00000436913.2	+	4	599_600	c.198_199insA	c.(196-201)gcaaaafs	p.AK66fs	LAYN_ENST00000375615.3_Frame_Shift_Ins_p.AK219fs|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Frame_Shift_Ins_p.AK211fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.AK211fs|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.AK219fs	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	219	C-type lectin.		E -> K (in dbSNP:rs11827718).			cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.T214fs*10(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAGAAGATGCCAAAAAAACATT	0.406													25	35	---	---	---	---					
MCAM	4162	broad.mit.edu	37	11	119182354	119182355	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119182354_119182355insG	ENST00000392814.1	-	6	1868_1869	c.1139_1140insC	c.(1138-1140)ctgfs	p.L380fs	MCAM_ENST00000264036.4_Frame_Shift_Ins_p.L431fs			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	431	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609													46	54	---	---	---	---					
C11orf63	79864	broad.mit.edu	37	11	122775123	122775123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122775123delA	ENST00000227349.2	+	3	1132	c.835delA	c.(835-837)aafs	p.K280fs	C11orf63_ENST00000531316.1_Frame_Shift_Del_p.K280fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.K280fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	280										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTCACAATAAAAAAAGAGG	0.403													26	325	---	---	---	---					
OR8A1	390275	broad.mit.edu	37	11	124440612	124440613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124440612_124440613insT	ENST00000284287.3	+	1	720_721	c.648_649insT	c.(646-651)tttttcfs	p.FF216fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGACAGTCTTCTTTTCGGCTGG	0.480													32	54	---	---	---	---					
SRPR	6734	broad.mit.edu	37	11	126137106	126137107	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126137106_126137107insT	ENST00000332118.6	-	4	643_644	c.489_490insA	c.(487-492)aacaaafs	p.NK163fs	SRPR_ENST00000532259.1_Frame_Shift_Ins_p.NK135fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	163					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTATTCTTTGCTTTTTCCTTGG	0.450													17	276	---	---	---	---					
KLRC1	3821	broad.mit.edu	37	12	10603615	10603615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10603615delT	ENST00000544822.1	-	3	528	c.141delA	c.(139-141)aafs	p.K47fs	KLRC1_ENST00000408006.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000359151.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000347831.5_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000536188.1_Frame_Shift_Del_p.K47fs	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	47					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCTGAGAAGCTTTTTGAAGGT	0.393													45	129	---	---	---	---					
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)tatfs	p.Y196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													43	88	---	---	---	---					
PLCZ1	89869	broad.mit.edu	37	12	18841024	18841025	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18841024_18841025insT	ENST00000447925.2	-	13	1852_1853	c.1585_splice	c.e13+1	p.S528_splice	PLCZ1_ENST00000539875.1_Splice_Site_p.S337_splice|PLCZ1_ENST00000534932.1_Splice_Site_p.S11_splice|PLCZ1_ENST00000266505.7_Splice_Site_p.S530_splice|PLCZ1_ENST00000541695.1_Splice_Site_p.R393_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.S335_splice|PLCZ1_ENST00000538330.1_Splice_Site_p.S312_splice	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAAT	0.292													9	98	---	---	---	---					
LRMP	4033	broad.mit.edu	37	12	25255145	25255146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25255145_25255146insA	ENST00000354454.3	+	16	1732_1733	c.903_904insA	c.(901-906)ataaaafs	p.IK301fs	LRMP_ENST00000548766.1_Frame_Shift_Ins_p.IK301fs|LRMP_ENST00000547044.1_Frame_Shift_Ins_p.IK301fs	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	357					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGCCAAATTAAAAAACGTTC	0.297													18	27	---	---	---	---					
PUS7L	83448	broad.mit.edu	37	12	44139908	44139909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44139908_44139909insT	ENST00000416848.2	-	4	1691_1692	c.1203_1204insA	c.(1201-1206)aaaaatfs	p.N402fs	PUS7L_ENST00000551923.1_Frame_Shift_Ins_p.N402fs|PUS7L_ENST00000344862.5_Frame_Shift_Ins_p.N402fs|PUS7L_ENST00000431332.3_Frame_Shift_Ins_p.N89fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	402					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAAT	0.317													14	24	---	---	---	---					
LARP4	113251	broad.mit.edu	37	12	50829360	50829361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829360_50829361insA	ENST00000398473.2	+	5	600_601	c.488_489insA	c.(487-489)aaafs	p.K163fs	LARP4_ENST00000522085.1_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.K93fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.K162fs|LARP4_ENST00000347328.5_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.K169fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGGAAGAAATAAAAAAGTTGA	0.287													23	56	---	---	---	---					
TMEM5	10329	broad.mit.edu	37	12	64174847	64174847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64174847delA	ENST00000261234.6	+	2	376	c.218delA	c.(217-219)gafs	p.E73fs	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	73						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAGATGAAAAAAATGAG	0.358													7	68	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67703936	67703936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67703936delA	ENST00000545606.1	+	13	3637	c.3200delA	c.(3199-3201)gafs	p.E1067fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1067					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAACAGGTAGAAATGGGTCCA	0.358													13	165	---	---	---	---					
PTPRB	0	broad.mit.edu	37	12	70938360	70938361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70938360_70938361insA	ENST00000334414.6	-	22	5514_5515	c.5470_5471insT	c.(5470-5472)tttfs	p.F1824fs	PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.F1736fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.F1606fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1606	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGGTAAAGAAAAAAATGTG	0.411													11	17	---	---	---	---					
NR2C1	7181	broad.mit.edu	37	12	95451579	95451580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95451579_95451580insT	ENST00000333003.5	-	6	949_950	c.619_620insA	c.(619-621)ctafs	p.L207fs	NR2C1_ENST00000393101.3_Frame_Shift_Ins_p.L207fs|NR2C1_ENST00000330677.7_Frame_Shift_Ins_p.L207fs|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	207					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCGGATATAGATTTTTTCTGTT	0.366													49	87	---	---	---	---					
NEDD1	121441	broad.mit.edu	37	12	97339521	97339522	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97339521_97339522insA	ENST00000266742.4	+	14	2044_2045	c.1705_1706insA	c.(1705-1707)aaafs	p.K569fs	NEDD1_ENST00000557644.1_Frame_Shift_Ins_p.K576fs|NEDD1_ENST00000411739.2_Frame_Shift_Ins_p.K480fs|NEDD1_ENST00000457368.2_Frame_Shift_Ins_p.K480fs|NEDD1_ENST00000429527.2_Frame_Shift_Ins_p.K569fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	569					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTCACTCTCAGAAAAAATAGCC	0.376													25	38	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122862486	122862487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862486_122862487insT	ENST00000358808.2	-	3	260_261	c.106_107insA	c.(106-108)catfs	p.H36fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.H36fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	36					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGGATATGGTTTTTTCTACT	0.386													13	161	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													22	52	---	---	---	---					
EPSTI1	94240	broad.mit.edu	37	13	43538202	43538203	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:43538202_43538203insT	ENST00000313640.7	-	4	468_469	c.405_splice	c.e4+1	p.T135_splice	EPSTI1_ENST00000398762.3_Splice_Site_p.T135_splice|EPSTI1_ENST00000313624.7_Splice_Site_p.T135_splice|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	135										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAATTCTGACCTTTTGCTTGTA	0.351													8	19	---	---	---	---					
CCDC122	160857	broad.mit.edu	37	13	44433879	44433880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44433879_44433880insT	ENST00000444614.3	-	5	741_742	c.483_484insA	c.(481-486)aataaafs	p.NK161fs	CCDC122_ENST00000281508.3_Frame_Shift_Ins_p.NK161fs|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	161										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTCTTTAATTTTTTAACAA	0.317													37	74	---	---	---	---					
SPRYD7	57213	broad.mit.edu	37	13	50489224	50489225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50489224_50489225insT	ENST00000378195.2	-	4	702_703	c.448_449insA	c.(448-450)attfs	p.I150fs	SPRYD7_ENST00000361840.3_Frame_Shift_Ins_p.I189fs	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	189	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAAATAATATTTTTTCAAAA	0.297													10	37	---	---	---	---					
DZIP1	22873	broad.mit.edu	37	13	96241463	96241464	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241463_96241464insA	ENST00000347108.3	-	17	2406		c.e17-2		DZIP1_ENST00000361156.3_Splice_Site|DZIP1_ENST00000376829.2_Splice_Site|DZIP1_ENST00000361396.2_Splice_Site			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAAC	0.277													16	25	---	---	---	---					
TUBGCP3	10426	broad.mit.edu	37	13	113153377	113153378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113153377_113153378insT	ENST00000261965.3	-	20	2615_2616	c.2429_2430insA	c.(2428-2430)aaafs	p.K810fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.K810fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	810					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACGCTGTTTCTTTTTCTCTTC	0.356													27	38	---	---	---	---					
TRAV21	0	broad.mit.edu	37	14	22520952	22520953	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22520952_22520953insA	ENST00000390449.3	+	0	53																											TGTGGAAATTGAAAAAATAAAT	0.421													17	27	---	---	---	---					
TINF2	26277	broad.mit.edu	37	14	24709323	24709324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24709323_24709324insA	ENST00000267415.7	-	8	1508_1509	c.1167_1168insT	c.(1165-1170)atgggafs	p.M389fs	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.M354fs|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	389					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACCAAGTCCCCTATGGTAATGA	0.500									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				33	331	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39716859	39716860	+	Frame_Shift_Ins	INS	-	-	A	rs141053276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39716859_39716860insA	ENST00000553728.1	+	4	1294_1295	c.1081_1082insA	c.(1081-1083)aaafs	p.K361fs	MIA2_ENST00000556784.1_Frame_Shift_Ins_p.K360fs|MIA2_ENST00000280082.3_Frame_Shift_Ins_p.K361fs																							AATATTAACAGAAAAAAAAGAC	0.347													29	35	---	---	---	---					
KLHDC2	23588	broad.mit.edu	37	14	50238339	50238339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50238339delT	ENST00000298307.5	+	2	1042	c.181delT	c.(181-183)ttfs	p.F61fs	KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.F61fs|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.F61fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	61						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTATATGACTTTTATCTGCC	0.313													33	49	---	---	---	---					
NIN	51199	broad.mit.edu	37	14	51224050	51224050	+	Frame_Shift_Del	DEL	T	T	-	rs34636266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51224050delT	ENST00000245441.5	-	18	3888	c.3698delA	c.(3697-3699)agfs	p.K1234fs	NIN_ENST00000453196.1_Frame_Shift_Del_p.K1234fs|NIN_ENST00000324330.9_Frame_Shift_Del_p.K1234fs|NIN_ENST00000382041.3_Frame_Shift_Del_p.K1234fs|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Frame_Shift_Del_p.K1234fs	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1234					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCAGTTTCTTTTTTAGCAC	0.418			T	PDGFRB	MPD								68	129	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58814450	58814451	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58814450_58814451insA	ENST00000355431.3	+	15	1631_1632	c.1258_1259insA	c.(1258-1260)aaafs	p.K420fs	ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.K420fs|ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.K420fs|ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.K420fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	420					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTAAAAGAGGAAAAAAAAGAC	0.356													46	20	---	---	---	---					
RP11-112J1.2	0	broad.mit.edu	37	14	59295080	59295080	+	RNA	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59295080delG	ENST00000553762.1	+	0	129																											CCATGCTTCCGGGGAGCTCCT	0.577													2	4	---	---	---	---					
PCNXL4	64430	broad.mit.edu	37	14	60581478	60581479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60581478_60581479insT	ENST00000406854.1	+	3	1304_1305	c.750_751insT	c.(748-753)gtttttfs	p.VF250fs	PCNXL4_ENST00000406949.1_Frame_Shift_Ins_p.VF16fs|PCNXL4_ENST00000317623.4_Frame_Shift_Ins_p.VF16fs|PCNXL4_ENST00000404681.2_Frame_Shift_Ins_p.VF250fs					pecanex-like 4 (Drosophila)																		TCTTGTTTGTATTTTTACCCTT	0.406													44	87	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256767	69256768	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69256767_69256768insA	ENST00000439696.2	-	2	800_801	c.499_500insT	c.(499-501)cccfs	p.P167fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.P167fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	52	---	---	---	---					
FLVCR2	55640	broad.mit.edu	37	14	76090972	76090972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76090972delA	ENST00000238667.4	+	3	1185	c.829delA	c.(829-831)aafs	p.K277fs	FLVCR2_ENST00000556856.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000553587.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000539311.1_Frame_Shift_Del_p.K72fs|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	277					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGAGAAACCTAAATATCCCCC	0.488													9	82	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aafs	p.K628fs	GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308													10	179	---	---	---	---					
KCNK10	54207	broad.mit.edu	37	14	88792790	88792791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88792790_88792791insA	ENST00000340700.5	-	1	460_461	c.9_10insT	c.(7-12)tttctafs	p.L4fs		NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	4					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGTGTAGAGAAAAAACATCC	0.500													13	20	---	---	---	---					
MYO5A	4644	broad.mit.edu	37	15	52671910	52671910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52671910delA	ENST00000399231.3	-	18	2363	c.2120delT	c.(2119-2121)tcfs	p.F707fs	MYO5A_ENST00000358212.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000553916.1_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000356338.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000399233.2_Frame_Shift_Del_p.F707fs	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	707	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGCGGCTGAAAAATTCTTG	0.388													49	107	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62316028	62316029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62316028_62316029insT	ENST00000261517.5	-	7	537_538	c.464_465insA	c.(463-465)acafs	p.T155fs	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.T155fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	155	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTTTTTTGTGCTTTTTACGTTT	0.332													31	61	---	---	---	---					
DENND4A	10260	broad.mit.edu	37	15	65959878	65959879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65959878_65959879insA	ENST00000443035.3	-	29	5361_5362	c.5146_5147insT	c.(5146-5148)gaafs	p.E1716fs	DENND4A_ENST00000431932.2_Frame_Shift_Ins_p.E1673fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACCAGGTTCCAAAAAACAATT	0.386													32	48	---	---	---	---					
RASGRF1	5923	broad.mit.edu	37	15	79294017	79294018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79294017_79294018insT	ENST00000419573.3	-	17	2883_2884	c.2609_2610insA	c.(2608-2610)aaafs	p.K870fs	RASGRF1_ENST00000558480.2_Frame_Shift_Ins_p.K854fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Frame_Shift_Ins_p.K86fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	872					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGAATTTTTGTTTTTGACTGA	0.411													8	137	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81565500	81565501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81565500_81565501insT	ENST00000394660.2	+	6	1105_1106	c.745_746insT	c.(745-747)tttfs	p.F249fs	IL16_ENST00000302987.4_Frame_Shift_Ins_p.F249fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	249	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.510													21	41	---	---	---	---					
AKAP13	11214	broad.mit.edu	37	15	86077162	86077163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86077162_86077163insT	ENST00000560302.1	+	4	699_700	c.529_530insT	c.(529-531)tttfs	p.F177fs	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000394518.2_Intron			Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	177					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATATTTCTACTTTTTTTTTAA	0.396													13	13	---	---	---	---					
USP7	7874	broad.mit.edu	37	16	9010900	9010901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9010900_9010901insT	ENST00000344836.4	-	7	1031_1032	c.833_834insA	c.(832-834)attfs	p.I278fs	USP7_ENST00000535863.1_Frame_Shift_Ins_p.I179fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.I262fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	278					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTTGTTAACTTTTTTGTTCC	0.361													33	89	---	---	---	---					
ZKSCAN2	342357	broad.mit.edu	37	16	25255310	25255311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25255310_25255311insG	ENST00000328086.7	-	6	2579_2580	c.1776_1777insC	c.(1774-1779)ccgcacfs	p.H593fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	593					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGAG	0.545													36	62	---	---	---	---					
MAPK3	5595	broad.mit.edu	37	16	30134477	30134478	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30134477_30134478insA	ENST00000403394.1	-	1	152_153	c.53_54insT	c.(52-54)gggfs	p.G18fs	MAPK3_ENST00000395199.3_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000322266.5_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000263025.4_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000395202.1_Frame_Shift_Ins_p.G18fs	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	18					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGCCGACCCCCTCGGTTCTACG	0.772													4	7	---	---	---	---					
CIRH1A	84916	broad.mit.edu	37	16	69197042	69197043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197042_69197043insA	ENST00000563094.1	+	14	1642_1643	c.1608_1609insA	c.(1606-1611)ccatacfs	p.Y537fs	CIRH1A_ENST00000314423.7_Frame_Shift_Ins_p.Y537fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.Y422fs			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	537						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTATTGCCCCCAATACCAACAA	0.480													28	177	---	---	---	---					
AP1G1	164	broad.mit.edu	37	16	71803439	71803440	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71803439_71803440insA	ENST00000423132.2	-	7	921	c.642_splice	c.e7-1	p.K215_splice	AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron			O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	214					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTTGCTTTCAAAAAAAAATA	0.376													12	23	---	---	---	---					
CTU2	348180	broad.mit.edu	37	16	88776649	88776649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88776649delG	ENST00000567949.1	+	4	250	c.241delG	c.(241-243)ggfs	p.G82fs	CTU2_ENST00000378384.3_5'UTR|CTU2_ENST00000453996.2_Frame_Shift_Del_p.G82fs|CTU2_ENST00000312060.5_Frame_Shift_Del_p.G82fs			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	82					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGTGGTCTGGGGGGCCTTC	0.637													49	75	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-540)gccfs	p.A180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													7	177	---	---	---	---					
SPEM1	374768	broad.mit.edu	37	17	7324242	7324243	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7324242_7324243insA	ENST00000323675.3	+	3	273_274	c.248_249insA	c.(247-249)caafs	p.Q83fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	83					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCCAGCCCCCTAAGAAGCAGA	0.594													16	122	---	---	---	---					
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19729453delT	ENST00000395544.4	-	11	1333	c.835_splice	c.e11+1	p.K278_splice	ULK2_ENST00000580130.1_Intron|ULK2_ENST00000361658.2_Splice_Site_p.K278_splice	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	278					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.K278fs*130(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GATACTCACATTTTTTTACTG	0.294													12	91	---	---	---	---					
PROCA1	147011	broad.mit.edu	37	17	27030736	27030737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27030736_27030737insT	ENST00000301039.2	-	4	1043_1044	c.850_851insA	c.(850-852)gggfs	p.G284fs	PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.G286fs	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	312					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.R284W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCCTGCCCCCGGCCATTGTAA	0.569													17	107	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963207	27963208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27963207_27963208insA	ENST00000269033.3	-	14	2110_2111	c.1959_1960insT	c.(1957-1962)ttgtgcfs	p.LC653fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.LC680fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	653					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTAGGGCACTAAAAAAGTCAA	0.505													30	83	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)cccfs	p.P676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	27	---	---	---	---					
OMG	4974	broad.mit.edu	37	17	29622442	29622443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622442_29622443insT	ENST00000247271.4	-	2	1168_1169	c.907_908insA	c.(907-909)accfs	p.T303fs	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	303					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTTTGGGTATTTTGGTCACT	0.431													15	131	---	---	---	---					
AP2B1	163	broad.mit.edu	37	17	33935342	33935342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33935342delA	ENST00000262325.7	+	5	1014	c.461delA	c.(460-462)cafs	p.Q154fs	AP2B1_ENST00000592545.1_Frame_Shift_Del_p.Q116fs|AP2B1_ENST00000589344.1_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000538556.1_Frame_Shift_Del_p.Q97fs|AP2B1_ENST00000537622.2_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000312678.8_Frame_Shift_Del_p.Q154fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	154					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCAATGCCCAAATGGTGGAA	0.448													7	124	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													8	84	---	---	---	---					
ARHGAP28	79822	broad.mit.edu	37	18	6882228	6882229	+	Frame_Shift_Ins	INS	-	-	T	rs80166861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6882228_6882229insT	ENST00000419673.2	+	10	1123_1124	c.906_907insT	c.(904-909)gcttttfs	p.AF302fs	ARHGAP28_ENST00000383472.4_Frame_Shift_Ins_p.AF461fs|ARHGAP28_ENST00000400091.2_Frame_Shift_Ins_p.AF461fs|ARHGAP28_ENST00000531294.1_Frame_Shift_Ins_p.AF297fs|ARHGAP28_ENST00000532996.1_Frame_Shift_Ins_p.AF284fs|ARHGAP28_ENST00000418986.1_Frame_Shift_Ins_p.AF302fs|ARHGAP28_ENST00000314319.3_Frame_Shift_Ins_p.AF302fs|ARHGAP28_ENST00000262227.3_Frame_Shift_Ins_p.AF409fs	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	284					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGTTGAAAGCGTTTTTCAGAGA	0.391													32	42	---	---	---	---					
MPPE1	65258	broad.mit.edu	37	18	11886499	11886499	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11886499delT	ENST00000588072.1	-	9	2087	c.867_splice	c.e9+1	p.K289_splice	MPPE1_ENST00000399978.2_Splice_Site_p.K290_splice|MPPE1_ENST00000344987.7_Splice_Site_p.K267_splice|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	289					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGGCAAACCTTTTGTGATGC	0.502													7	96	---	---	---	---					
WBP11P1	0	broad.mit.edu	37	18	30091781	30091782	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30091781_30091782insT	ENST00000567636.1	+	0	156_157					NR_003558.1																						ttttctttttctttttttttAA	0.416													15	32	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56648824	56648824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56648824delA	ENST00000336078.4	+	10	4162	c.3386delA	c.(3385-3387)gafs	p.E1129fs	ZNF532_ENST00000591808.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591230.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591083.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATGAGGAGGAAACAGAAATA	0.408													7	53	---	---	---	---					
MUM1	84939	broad.mit.edu	37	19	1364551	1364552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1364551_1364552insA	ENST00000311401.5	+	7	1439_1440	c.1053_1054insA	c.(1051-1056)caaaaafs	p.QK351fs	MUM1_ENST00000415183.3_Frame_Shift_Ins_p.QK420fs|MUM1_ENST00000591806.1_Frame_Shift_Ins_p.QK420fs|MUM1_ENST00000344663.3_Frame_Shift_Ins_p.QK420fs			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	419					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATAAACATAAAAAATACCC	0.337											OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	51	---	---	---	---					
RANBP3	8498	broad.mit.edu	37	19	5923913	5923914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5923913_5923914insT	ENST00000340578.6	-	12	1065_1066	c.1008_1009insA	c.(1006-1011)aataaafs	p.NK336fs	RANBP3_ENST00000439268.2_Frame_Shift_Ins_p.NK331fs|RANBP3_ENST00000541471.1_Frame_Shift_Ins_p.NK208fs|RANBP3_ENST00000034275.8_Frame_Shift_Ins_p.NK268fs|RANBP3_ENST00000591092.1_Frame_Shift_Ins_p.NK263fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	336					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTCGTTTAATTTTGGGGGGC	0.559													9	24	---	---	---	---					
ZNF69	7620	broad.mit.edu	37	19	12015805	12015806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015805_12015806insA	ENST00000429654.2	+	4	733_734	c.593_594insA	c.(592-594)gaafs	p.E198fs	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAAGAATGTGGAAAAACTTTTA	0.401													12	128	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461740	12461741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12461740_12461741insA	ENST00000242804.4	-	6	1240_1241	c.658_659insT	c.(658-660)gccfs	p.A220fs	ZNF442_ENST00000438182.1_Frame_Shift_Ins_p.A151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAAACTAGGCCAAAAAAAGGCT	0.401													43	100	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17394492	17394493	+	Frame_Shift_Ins	INS	-	-	A	rs139428363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17394492_17394493insA	ENST00000394458.3	+	5	1195_1196	c.919_920insA	c.(919-921)acgfs	p.T307fs	ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.T307fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.T296fs|ANKLE1_ENST00000433424.2_Frame_Shift_Ins_p.T361fs|ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.T329fs	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	307						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCATAGCCCCCCACGGACACCA	0.609													8	69	---	---	---	---					
CEBPG	1054	broad.mit.edu	37	19	33870462	33870463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33870462_33870463insA	ENST00000284000.3	+	2	979_980	c.317_318insA	c.(316-318)gaafs	p.E106fs		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	106	Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CGGTTGGAAGCAAAAATCAAAT	0.416													9	15	---	---	---	---					
ZNF30	90075	broad.mit.edu	37	19	35435001	35435002	+	Frame_Shift_Ins	INS	-	-	G	rs78688282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35435001_35435002insG	ENST00000439785.1	+	5	1578_1579	c.1134_1135insG	c.(1132-1137)tgggagfs	p.E379fs	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Frame_Shift_Ins_p.E379fs|ZNF30_ENST00000601142.1_Frame_Shift_Ins_p.E378fs|ZNF30_ENST00000426813.2_Frame_Shift_Ins_p.E297fs	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	378			R -> K (in dbSNP:rs1345658).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAAGGAATGCGGGAGAACCTT	0.460													11	30	---	---	---	---					
ZNF585A	199704	broad.mit.edu	37	19	37643466	37643466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643466delT	ENST00000356958.4	-	5	1593	c.1335delA	c.(1333-1335)aafs	p.K445fs	ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAACAATTTCCCACAGT	0.423													13	153	---	---	---	---					
ZNF585B	92285	broad.mit.edu	37	19	37678054	37678055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37678054_37678055insT	ENST00000532828.2	-	5	635_636	c.384_385insA	c.(382-387)aacctafs	p.NL128fs	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.NL73fs|ZNF585B_ENST00000527838.1_Frame_Shift_Ins_p.NL128fs	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCATAGGATTTTTCCCCAG	0.371													36	54	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38951154	38951155	+	Frame_Shift_Ins	INS	-	-	A	rs140686309	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38951154_38951155insA	ENST00000355481.4	+	20	2631_2632	c.2500_2501insA	c.(2500-2502)gggfs	p.G834fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G834fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G834fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	834					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGGGCCCCGGGGGCCTCAC	0.639													18	124	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47422504	47422505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47422504_47422505insA	ENST00000404338.3	+	1	572_573	c.572_573insA	c.(571-573)aaafs	p.K191fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	191					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTGCAAAAACAAAAAAGCCCA	0.426													29	53	---	---	---	---					
ZNF749	388567	broad.mit.edu	37	19	57955361	57955361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57955361delG	ENST00000334181.4	+	3	1095	c.845delG	c.(844-846)agfs	p.R282fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTTTCAAAAAGGTCTGACCCC	0.443													29	53	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13763274	13763275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13763274_13763275insT	ENST00000202816.1	-	2	619_620	c.512_513insA	c.(511-513)aatfs	p.N171fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTGAACAATGTTTTTTTTCTC	0.317													7	46	---	---	---	---					
TTPAL	79183	broad.mit.edu	37	20	43113129	43113129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43113129delT	ENST00000372904.3	+	4	741	c.598delT	c.(598-600)ttfs	p.F200fs	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Frame_Shift_Del_p.F200fs	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	200	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCATCTCACTTTGGCCCTTT	0.458													13	145	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44673721	44673722	+	Frame_Shift_Ins	INS	-	-	A	rs41282782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44673721_44673722insA	ENST00000454036.1	+	12	1656_1657	c.1580_1581insA	c.(1579-1581)aggfs	p.R527fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.R504fs|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	527					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGAGCCTCACGGGGGCCCCAC	0.619													15	135	---	---	---	---					
DDX27	55661	broad.mit.edu	37	20	47858511	47858512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858511_47858512insG	ENST00000371764.4	+	17	2081_2082	c.2072_2073insG	c.(2071-2073)aggfs	p.R691fs	ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAAAAAAAGGGGGAGATGA	0.510													36	67	---	---	---	---					
ADNP	23394	broad.mit.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)agfs	p.K1016fs	ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458													12	134	---	---	---	---					
LIPI	149998	broad.mit.edu	37	21	15561361	15561362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15561361_15561362insT	ENST00000344577.2	-	2	513_514	c.488_489insA	c.(487-489)actfs	p.T163fs	LIPI_ENST00000536861.1_Frame_Shift_Ins_p.T142fs	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	142					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTACCAAAAGATTTTTAATGTG	0.332													20	46	---	---	---	---					
SLC5A1	6523	broad.mit.edu	37	22	32482206	32482207	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32482206_32482207insA	ENST00000266088.4	+	10	1271_1272		c.e10-1		SLC5A1_ENST00000543737.1_Splice_Site	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1						carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTCTTCCCAGAAAAAATTGCC	0.446													75	127	---	---	---	---					
TTLL8	164714	broad.mit.edu	37	22	50479633	50479634	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50479633_50479634insG	ENST00000266182.6	-	8	902_903	c.903_904insC	c.(901-906)cccagcfs	p.S302fs	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTCGGGCTGTGGGGGGCTCAA	0.559													9	107	---	---	---	---					
GPR143	4935	broad.mit.edu	37	X	9709462	9709463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9709462_9709463insA	ENST00000467482.1	-	7	946_947	c.800_801insT	c.(799-801)tttfs	p.F267fs	GPR143_ENST00000380929.2_Frame_Shift_Ins_p.F287fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	267					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAAGATAGAATAAAAGGCTTTC	0.371													10	23	---	---	---	---					
TBC1D25	4943	broad.mit.edu	37	X	48418637	48418638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48418637_48418638insC	ENST00000376771.4	+	6	1682_1683	c.1341_1342insC	c.(1339-1344)ggccccfs	p.GP447fs	TBC1D25_ENST00000537536.1_Frame_Shift_Ins_p.GP193fs|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	447						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCTGGTTGGACCCCCCAGCCA	0.614													10	20	---	---	---	---					
RP11-382F24.2	0	broad.mit.edu	37	X	55307776	55307777	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55307776_55307777insT	ENST00000440645.1	+	0	10																											TTCTTACACACTTTTTCCAAAT	0.307													10	12	---	---	---	---					
DLG3	1741	broad.mit.edu	37	X	69712375	69712376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69712375_69712376insA	ENST00000194900.4	+	13	2097_2098	c.1756_1757insA	c.(1756-1758)aaafs	p.K586fs	DLG3_ENST00000374360.3_Frame_Shift_Ins_p.K568fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.K231fs|DLG3_ENST00000542398.1_Frame_Shift_Ins_p.K85fs			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	568					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAACAGGGTGGAAAAGAAAGAA	0.480													10	13	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73044276	73044277	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73044276_73044277insT	ENST00000604411.1	+	0	32237_32238				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						gtattgccttatttTTGGCTGT	0.322													8	11	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107976513	107976513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107976513delA	ENST00000372129.2	-	1	3138	c.3062delT	c.(3061-3063)tcfs	p.F1021fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1021						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTGAGTTGAAAATTACTTC	0.488													9	102	---	---	---	---					
SLC6A14	11254	broad.mit.edu	37	X	115573968	115573968	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573968delA	ENST00000371900.4	+	4	548	c.460delA	c.(460-462)aafs	p.K154fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	154					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTACCATGGAAAAATTGTTC	0.308													63	107	---	---	---	---					
AKAP14	158798	broad.mit.edu	37	X	119048673	119048674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119048673_119048674insA	ENST00000371431.3	+	5	547_548	c.273_274insA	c.(271-276)tcaaaafs	p.SK91fs	AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	91						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGTGTGTTTCTAAAAAATGCTG	0.401													41	59	---	---	---	---					
THOC2	57187	broad.mit.edu	37	X	122755386	122755387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122755386_122755387insT	ENST00000245838.8	-	31	3868_3869	c.3837_3838insA	c.(3835-3840)aaagaafs	p.E1280fs	THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1165fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1280fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1280	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tcttttttctctttttctttct	0.322													17	52	---	---	---	---					
UTP14A	10813	broad.mit.edu	37	X	129053459	129053459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129053459delG	ENST00000394422.3	+	8	774	c.746delG	c.(745-747)atfs	p.S249fs	UTP14A_ENST00000371051.5_Frame_Shift_Del_p.S195fs|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Frame_Shift_Del_p.S197fs|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.S81fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	249					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATCAAAAGTAAAAAGTAA	0.478													9	74	---	---	---	---					
ARHGAP36	158763	broad.mit.edu	37	X	130219946	130219947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:130219946_130219947insA	ENST00000276211.5	+	9	1509_1510	c.1164_1165insA	c.(1162-1167)ctaaaafs	p.LK388fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Ins_p.LK376fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Ins_p.LK252fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	388	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTCTCCTGAAAAAAGGAAA	0.465													123	189	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135428148	135428148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135428148delA	ENST00000394143.1	+	6	2574	c.2283delA	c.(2281-2283)ctfs	p.L761fs	GPR112_ENST00000412101.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.L698fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.L761fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTACTACTAAAAACAATAC	0.358													9	88	---	---	---	---					
ZIC3	7547	broad.mit.edu	37	X	136649846	136649846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136649846delC	ENST00000287538.5	+	1	1546	c.996delC	c.(994-996)ttfs	p.F332fs	ZIC3_ENST00000370606.3_Frame_Shift_Del_p.F332fs	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	332	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CATGCCCCTTCCCGGGCTGCG	0.597													59	119	---	---	---	---					
FMR1	2332	broad.mit.edu	37	X	147014219	147014219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147014219delA	ENST00000218200.8	+	9	1046	c.817delA	c.(817-819)aafs	p.K274fs	FMR1_ENST00000439526.2_Frame_Shift_Del_p.K274fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.K274fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	274					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCAGTGAAAAAAGCTAG	0.333									Fragile X syndrome				15	161	---	---	---	---